@prefix rdf: . @prefix owl: . @prefix rdfs: . @prefix xml: . @prefix xsd: . a owl:Ontology; owl:versionIRI ; """Copyright 2026 EMBL - European Bioinformatics Institute Licensed under the Apache License, Version 2.0 (the \"License\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License."""; "An ontology for the consistent identification and description of human cohorts across EMBL-EBI resources. Each cohort is represented as a named individual with a stable identifier and minimal metadata: a definition, synonyms, the number of participants it reports, the diseases it studies (MONDO terms, with their hierarchy), the environmental exposures it studies (ECTO terms, with their hierarchy), the locations where its data were collected, its relations to sub-cohorts and cohort aggregations, and example studies from EMBL-EBI resources such as the GWAS Catalog, EGA, MetaboLights and PRIDE. This enables linkage, discovery and integration of cohort-related data while supporting both named and implicitly defined cohorts."; ; ; "Cohort Ontology"; ; owl:versionInfo "2026-10-07"; ; . a owl:AnnotationProperty . a owl:AnnotationProperty; "editor preferred term"@en; ; "The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English)"@en; "PERSON:Daniel Schober"@en; "GROUP:OBI:"@en; rdfs:label "editor preferred term"@en . a owl:AnnotationProperty; "example of usage"@en; ; "A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold."@en; "PERSON:Daniel Schober"@en; "GROUP:OBI:"@en; rdfs:label "example of usage", "example of usage"@en . a owl:AnnotationProperty; "in branch"@en; "An annotation property indicating which module the terms belong to. This is currently experimental and not implemented yet."@en; "GROUP:OBI"@en; "OBI_0000277"@en; rdfs:label "in branch"@en . a owl:AnnotationProperty; "has curation status"@en; "PERSON:Alan Ruttenberg"@en, "PERSON:Bill Bug"@en, "PERSON:Melanie Courtot"@en; rdfs:label "has curation status"@en . a owl:AnnotationProperty; "definition"@en; ; "The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions."@en; """2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with."""@en, """2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with. """@en; "PERSON:Daniel Schober"@en; "GROUP:OBI:"@en; rdfs:label "definition", "definition"@en . a owl:AnnotationProperty; "editor note"@en; ; "An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology."@en; "PERSON:Daniel Schober"@en; "GROUP:OBI:"@en; rdfs:label "editor note"@en . a owl:AnnotationProperty; "term editor"@en; ; "Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people"@en; "20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115."@en; "PERSON:Daniel Schober"@en; "GROUP:OBI:"@en; rdfs:label "term editor"@en . a owl:AnnotationProperty; "alternative label"@en; ; "A label for a class or property that can be used to refer to the class or property instead of the preferred rdfs:label. Alternative labels should be used to indicate community- or context-specific labels, abbreviations, shorthand forms and the like."@en; "OBO Operations committee", "PERSON:Daniel Schober"@en; "GROUP:OBI:"@en; rdfs:comment "Consider re-defing to: An alternative name for a class or property which can mean the same thing as the preferred name (semantically equivalent, narrow, broad or related)."; rdfs:label "alternative label"@en . a owl:AnnotationProperty; "definition source"@en; ; "Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007"@en; "PERSON:Daniel Schober"@en; "Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w"@en, "GROUP:OBI:"@en; rdfs:label "definition source"@en . a owl:AnnotationProperty; "has obsolescence reason"@en; "Relates an annotation property to an obsolescence reason. The values of obsolescence reasons come from a list of predefined terms, instances of the class obsolescence reason specification."@en; "PERSON:Alan Ruttenberg"@en, "PERSON:Melanie Courtot"@en; rdfs:label "has obsolescence reason"@en . a owl:AnnotationProperty; "curator note"@en; ; "An administrative note of use for a curator but of no use for a user"@en; "PERSON:Alan Ruttenberg"@en; rdfs:label "curator note"@en . a owl:AnnotationProperty; "term tracker item"@en; "the URL for an ontology term tracker issue, such as https://github.com/monarch-initiative/mondo/issues/7588"@en; ; "A URL for a request or discussion of an ontology term."@en; "Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg"@en; "Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg"@en; rdfs:comment "The 'tracker item' can associate a tracker with a specific ontology term."@en; rdfs:label "term tracker item"@en; rdfs:range xsd:anyURI . a owl:AnnotationProperty; "ontology term requester"@en; ; "The name of the person, project, or organization that motivated inclusion of an ontology term by requesting its addition."@en; "Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg"@en; "Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg"@en; rdfs:comment "The 'term requester' can credit the person, organization or project who request the ontology term."; rdfs:label "ontology term requester"@en . a owl:AnnotationProperty; "is denotator type"@en; "Relates an class defined in an ontology, to the type of it's denotator"@en; "In OWL 2 add AnnotationPropertyRange('is denotator type' 'denotator type')"@en; "Alan Ruttenberg"@en; rdfs:label "is denotator type"@en . a owl:AnnotationProperty; "imported from"@en; ; "For external terms/classes, the ontology from which the term was imported"@en; "PERSON:Alan Ruttenberg"@en, "PERSON:Melanie Courtot"@en; "GROUP:OBI:"@en; rdfs:label "imported from"@en . a owl:AnnotationProperty; "expand expression to"@en; """ObjectProperty: RO_0002104 Label: has plasma membrane part Annotations: IAO_0000424 \"http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.org/obo/owl/GO#GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)\" """@en; "A macro expansion tag applied to an object property (or possibly a data property) which can be used by a macro-expansion engine to generate more complex expressions from simpler ones"@en; "Chris Mungall"@en; rdfs:label "expand expression to"@en . a owl:AnnotationProperty; "expand assertion to"@en; """ObjectProperty: RO??? Label: spatially disjoint from Annotations: expand_assertion_to \"DisjointClasses: (http://purl.obolibrary.org/obo/BFO_0000051 some ?X) (http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)\" """@en; "A macro expansion tag applied to an annotation property which can be expanded into a more detailed axiom."@en; "Chris Mungall"@en; rdfs:label "expand assertion to"@en . a owl:AnnotationProperty; "first order logic expression"@en; "PERSON:Alan Ruttenberg"@en; rdfs:label "first order logic expression"@en . a owl:AnnotationProperty; "antisymmetric property"@en; "part_of antisymmetric property xsd:true"@en; "Use boolean value xsd:true to indicate that the property is an antisymmetric property"@en; "Alan Ruttenberg"@en; rdfs:label "antisymmetric property"@en; rdfs:subPropertyOf . a owl:AnnotationProperty; "OBO foundry unique label"@en; ; "An alternative name for a class or property which is unique across the OBO Foundry."@en; "The intended usage of that property is as follow: OBO foundry unique labels are automatically generated based on regular expressions provided by each ontology, so that SO could specify unique label = 'sequence ' + [label], etc. , MA could specify 'mouse + [label]' etc. Upon importing terms, ontology developers can choose to use the 'OBO foundry unique label' for an imported term or not. The same applies to tools ."@en; "PERSON:Alan Ruttenberg"@en, "PERSON:Bjoern Peters"@en, "PERSON:Chris Mungall"@en, "PERSON:Melanie Courtot"@en; "GROUP:OBO Foundry "@en; rdfs:label "OBO foundry unique label"@en . a owl:AnnotationProperty; "has ID digit count"@en; """Ontology: Annotations: 'has ID prefix': \"http://purl.obolibrary.org/obo/RO_\" 'has ID digit count' : 7, rdfs:label \"RO id policy\" 'has ID policy for': \"RO\""""@en; "Relates an ontology used to record id policy to the number of digits in the URI. The URI is: the 'has ID prefix\" annotation property value concatenated with an integer in the id range (left padded with \"0\"s to make this many digits)"@en; "Person:Alan Ruttenberg"@en; rdfs:label "has ID digit count"@en . a owl:AnnotationProperty; "has ID range allocated"@en; """Datatype: idrange:1 Annotations: 'has ID range allocated to': \"Chris Mungall\" EquivalentTo: xsd:integer[> 2151 , <= 2300] """@en; "Relates a datatype that encodes a range of integers to the name of the person or organization who can use those ids constructed in that range to define new terms"@en; "Person:Alan Ruttenberg"@en; rdfs:label "has ID range allocated to"@en . a owl:AnnotationProperty; "has ID policy for"@en; """Ontology: Annotations: 'has ID prefix': \"http://purl.obolibrary.org/obo/RO_\" 'has ID digit count' : 7, rdfs:label \"RO id policy\" 'has ID policy for': \"RO\""""@en; "Relating an ontology used to record id policy to the ontology namespace whose policy it manages"@en; "Person:Alan Ruttenberg"@en; rdfs:label "has ID policy for"@en . a owl:AnnotationProperty; "has ID prefix"@en; """Ontology: Annotations: 'has ID prefix': \"http://purl.obolibrary.org/obo/RO_\" 'has ID digit count' : 7, rdfs:label \"RO id policy\" 'has ID policy for': \"RO\""""@en; "Relates an ontology used to record id policy to a prefix concatenated with an integer in the id range (left padded with \"0\"s to make this many digits) to construct an ID for a term being created."@en; "Person:Alan Ruttenberg"@en; rdfs:label "has ID prefix"@en . a owl:AnnotationProperty; "elucidation"@en; "person:Alan Ruttenberg"@en; "Person:Barry Smith"@en; "Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms"@en; rdfs:label "elucidation"@en . a owl:AnnotationProperty; "has associated axiom(nl)"@en; "Person:Alan Ruttenberg"@en; "Person:Alan Ruttenberg"@en; "An axiom associated with a term expressed using natural language"@en; rdfs:label "has associated axiom(nl)"@en . a owl:AnnotationProperty; "has associated axiom(fol)"@en; "Person:Alan Ruttenberg"@en; "Person:Alan Ruttenberg"@en; "An axiom expressed in first order logic using CLIF syntax"@en; rdfs:label "has associated axiom(fol)"@en . a owl:AnnotationProperty; "is allocated id range"@en; "Relates an ontology IRI to an (inclusive) range of IRIs in an OBO name space. The range is give as, e.g. \"IAO_0020000-IAO_0020999\""@en; "PERSON:Alan Ruttenberg"@en; rdfs:comment "Add as annotation triples in the granting ontology"@en; rdfs:label "is allocated id range"@en . a owl:AnnotationProperty; "has ontology root term"@en; "Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root."@en; "Nicolas Matentzoglu"@en; rdfs:label "has ontology root term"@en . a owl:AnnotationProperty; "may be identical to"@en; "A annotation relationship between two terms in an ontology that may refer to the same (natural) type but where more evidence is required before terms are merged."@en; "David Osumi-Sutherland"@en; "#40"@en; "VFB"@en; rdfs:comment "Edges asserting this should be annotated with to record evidence supporting the assertion and its provenance."@en; rdfs:label "may be identical to"@en . a owl:AnnotationProperty; "scheduled for obsoletion on or after"@en; "Used when the class or object is scheduled for obsoletion/deprecation on or after a particular date."@en; "Chris Mungall, Jie Zheng"@en; "https://github.com/geneontology/go-ontology/issues/15532"@en, "https://github.com/information-artifact-ontology/ontology-metadata/issues/32"@en; "GO ontology"@en; rdfs:label "scheduled for obsoletion on or after"@en; rdfs:range xsd:dateTime . a owl:AnnotationProperty; "has axiom id"@en; "Person:Alan Ruttenberg"@en; "Person:Alan Ruttenberg"@en; "A URI that is intended to be unique label for an axiom used for tracking change to the ontology. For an axiom expressed in different languages, each expression is given the same URI"@en; rdfs:label "has axiom label"@en . a owl:AnnotationProperty; "term replaced by"@en; ; "Use on obsolete terms, relating the term to another term that can be used as a substitute"@en; "Person:Alan Ruttenberg"@en; "Person:Alan Ruttenberg"@en; rdfs:comment "Add as annotation triples in the granting ontology"@en; rdfs:label "term replaced by", "term replaced by"@en . a owl:AnnotationProperty; "This is an annotation used on an object property to indicate a logical characterstic beyond what is possible in OWL."; "OBO Operations call"; ; rdfs:label "logical characteristic of object property" . a owl:AnnotationProperty; """'part disjoint with' 'defined by construct' \"\"\" PREFIX owl: PREFIX : "Links an annotation property to a SPARQL CONSTRUCT query which is meant to provide semantics for a shortcut relation."; ; , ; rdfs:label "defined by construct" . a owl:AnnotationProperty; "The property is intended to be used exclusively on synonym assertions, to express that the synonym in question is the preference of a specific community. For example, one community may prefer to say call a disease \"A\" and another one \"B\" (but they are the same thing)."; "A provenance property that denotes a synonym to be the preferred one for a specific community."; ; ; "2025-06-02"^^xsd:date; rdfs:label "preferred label for community" . a owl:AnnotationProperty; "CHEBI:26523 (reactive oxygen species) has an exact synonym (ROS), which is of type OMO:0003000 (abbreviation)"; "A synonym type for describing abbreviations or initialisms"; ; ; "2023-03-03"^^xsd:date; rdfs:label "abbreviation"; rdfs:subPropertyOf . a owl:AnnotationProperty; "A synonym type for describing ambiguous synonyms"; ; ; "2023-03-03"^^xsd:date; rdfs:label "ambiguous synonym"; rdfs:subPropertyOf . a owl:AnnotationProperty; "A synonym type for describing dubious synonyms"; ; ; "2023-03-03"^^xsd:date; rdfs:label "dubious synonym"; rdfs:subPropertyOf . a owl:AnnotationProperty; "EFO:0006346 (severe cutaneous adverse reaction) has an exact synonym (scar), which is of the type OMO:0003003 (layperson synonym)"; "A synonym type for describing layperson or colloquial synonyms"; ; ; "2023-03-03"^^xsd:date; rdfs:label "layperson synonym"; rdfs:subPropertyOf . a owl:AnnotationProperty; "CHEBI:23367 (molecular entity) has an exact synonym (molecular entities), which is of the type OMO:0003004 (plural form)"; "A synonym type for describing pluralization synonyms"; ; ; "2023-03-03"^^xsd:date; rdfs:label "plural form"; rdfs:subPropertyOf . a owl:AnnotationProperty; "CHEBI:16189 (sulfate) has an exact synonym (sulphate), which is of the type OMO:0003005 (UK spelling synonym)"; "A synonym type for describing UK spelling variants"; ; ; "2023-03-03"^^xsd:date; rdfs:label "UK spelling synonym"; rdfs:subPropertyOf . a owl:AnnotationProperty; "A synonym type for common misspellings"; ; ; "2023-03-03"^^xsd:date; rdfs:label "misspelling"; rdfs:subPropertyOf . a owl:AnnotationProperty; "A synonym type for misnomers, i.e., a synonym that is not technically correct but is commonly used anyway"; ; ; "2023-03-03"^^xsd:date; rdfs:label "misnomer"; rdfs:subPropertyOf . a owl:AnnotationProperty; "MAPT, the gene that encodes the Tau protein, has a previous name DDPAC. Note: in this case, the name type is more specifically the gene symbol."; "A synonym type for names that have been used as primary labels in the past."; ; ; "2023-07-25"^^xsd:date; rdfs:label "previous name"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The legal name for Harvard University (https://ror.org/03vek6s52) is President and Fellows of Harvard College"; "A synonym type for the legal entity name"; ; ; "2023-07-27"^^xsd:date; rdfs:label "legal name"; rdfs:subPropertyOf . a owl:AnnotationProperty; "CHEBI:46195 has been assigned the english International Nonproproprietary Name (INN) \"paracetamol\". In some cases such as this one, the INN might be the same as the ontology's primary label"; "The International Nonproprietary Name (INN) is a standardize name for a pharmaceutical drug or active ingredient issued by the World Health Organization (WHO) meant to address the issues with country- or language-specific brand names. These are issued in several languages, including English, Latin, French, Russian, Spanish, Arabic, and Chinese."; ; ; "2023-09-30"^^xsd:date; "INN"; rdfs:label "International Nonproprietary Name"; rdfs:subPropertyOf . a owl:AnnotationProperty; "nasopharynx (UBERON:0001728) has the latin name \"pars nasalis pharyngis"; "A synonym type for describing Latin term synonyms."; ; ; "2023-10-12"^^xsd:date; rdfs:label "latin term"; rdfs:subPropertyOf . a owl:AnnotationProperty; "NASA is an word acronym for the US National Aeronautics and Space Administration because the acronym is pronounced. FBI is an initialism (also known as alphabetism) for the US Federal Bureau of Investigation since the letters are pronounced one at a time. JPEG is an acronym for Joint Photographic Experts Group but does not count as a word acronym nor an initialism since it is mixed how it is pronounced."; "A synonym type for describing abbreviations that are a part of the full name's words, such as initialisms or alphabetisms."; ; ; "2023-11-01"^^xsd:date; rdfs:label "acronym"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The Developing Mouse Brain Atlas Ontology (DBMA) ontology uses part-of in its hierarchy, so this would correspond to the following turtle: ` a owl:Ontology; OMO:0003014 rdfs:subClassOf, BFO:0000050`."; "Relates an ontology to predicates/properties that should be used by user interfaces to render the hierarchical structure of the ontology. Typically, this is rdfs:subClassOf, but in ontologies that are partonomies, this might also include BFO:0000050 (part of). Tools like OLS can use predicates annotated with this property for rendering the ontology class hierarchy. There can be more than one hierarchical property. In the absence of any, it should be assumed that it is rdfs:subClassOf."; ; ; "2025-09-17"^^xsd:date; rdfs:label "has ontology hierarchical property" . a owl:AnnotationProperty; "A serial number such as \"12324X\"; a stop sign; a written proper name such as \"OBI"; "An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity."; ; ; "2024-03-25"^^xsd:date; rdfs:label "has symbol" . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:subPropertyOf . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty; "The cohorts that studies in the European Genome-phenome Archive (EGA) draw on."@en; rdfs:label "EGA_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The cohorts listed in the Global Exposome Cohort Catalogue, the Global Exposome Cohorts network of the MOLGENIS catalogue."@en; rdfs:label "GEC_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The cohorts that studies in the GWAS Catalog draw on."@en; rdfs:label "GWAS_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The cohorts listed in the IHCC Cohort Atlas, the International Health Cohorts Consortium's directory of its member cohorts."@en; rdfs:label "IHCC_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The cohorts that studies in MetaboLights draw on."@en; rdfs:label "MetaboLight_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The cohorts that scores in the PGS Catalog draw on."@en; rdfs:label "PGS_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The cohorts that datasets in the PRIDE proteomics archive draw on."@en; rdfs:label "PRIDE_subset"; rdfs:subPropertyOf . a owl:AnnotationProperty; "The number of cases a cohort reports, as its own design or profile paper or website states it: the participants with the condition under study in a case-control study. It is the number a source states, never one derived; the assertion carries that source, the sentence stating the number and what it counts. Asserted beside numberOfParticipants, or instead of it where no source states a total."@en; rdfs:label "numberOfCases"@en; rdfs:range xsd:integer . a owl:AnnotationProperty; "The number of controls a cohort reports, as its own design or profile paper or website states it: the participants without the condition under study in a case-control study. It is the number a source states, never one derived; the assertion carries that source, the sentence stating the number and what it counts. Asserted beside numberOfParticipants, or instead of it where no source states a total."@en; rdfs:label "numberOfControls"@en; rdfs:range xsd:integer . a owl:AnnotationProperty; "The number of participants a cohort reports: the people it enrolled or recruited, as its own design or profile paper or website states them, or, for a cohort aggregation, the pooled number of participants in its main analysis. It is the number a source states, never one computed, summed or inferred; the assertion carries that source, the sentence stating the number and what it counts. A definition never gives a size."@en; rdfs:label "numberOfParticipants"@en; rdfs:range xsd:integer . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty; rdfs:label "consider" . a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty; "An alternative label for a class or property which has a more general meaning than the preferred name/primary label."; ; "https://github.com/information-artifact-ontology/ontology-metadata/issues/18"; rdfs:label "has broad synonym"@en; rdfs:seeAlso "https://github.com/information-artifact-ontology/ontology-metadata/issues/18"; rdfs:subPropertyOf . a owl:AnnotationProperty; "disease characteristic (MONDO:0021125) has cross-reference (http://www.geneontology.org/formats/oboInOwl#hasDbXref) \"NCIT:C41009\"^^xsd:string"; "An annotation property that links an ontology entity or a statement to a prefixed identifier or URI."; ; ; "2024-03-18"^^xsd:date; rdfs:label "database_cross_reference", "has cross-reference", "xRef" . a owl:AnnotationProperty; "An alternative label for a class or property which has the exact same meaning than the preferred name/primary label."; ; "https://github.com/information-artifact-ontology/ontology-metadata/issues/20"; rdfs:label "has exact synonym"@en; rdfs:seeAlso "https://github.com/information-artifact-ontology/ontology-metadata/issues/20"; rdfs:subPropertyOf . a owl:AnnotationProperty; "An alternative label for a class or property which has a more specific meaning than the preferred name/primary label."; ; "https://github.com/information-artifact-ontology/ontology-metadata/issues/19"; rdfs:label "has narrow synonym"@en; rdfs:seeAlso "https://github.com/information-artifact-ontology/ontology-metadata/issues/19"; rdfs:subPropertyOf . a owl:AnnotationProperty; "An alternative label for a class or property that has been used synonymously with the primary term name, but the usage is not strictly correct."; ; "https://github.com/information-artifact-ontology/ontology-metadata/issues/21"; rdfs:label "has related synonym"@en, "has_related_synonym"; rdfs:seeAlso "https://github.com/information-artifact-ontology/ontology-metadata/issues/21"; rdfs:subPropertyOf . a owl:AnnotationProperty; rdfs:label "has_synonym_type" . a owl:AnnotationProperty; rdfs:label "in subset", "in_subset" . rdfs:label a owl:AnnotationProperty . a owl:AnnotationProperty . a owl:AnnotationProperty . xsd:date a rdfs:Datatype . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; owl:inverseOf ; "my brain is part of my body (continuant parthood, two material entities)"@en, "my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)"@en, "this day is part of this year (occurrent parthood)"@en; "a core relation that holds between a part and its whole"@en; "Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other."@en, "Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/"@en, """Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'."""@en; rdfs:label "part of"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; "my body has part my brain (continuant parthood, two material entities)"@en, "my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)"@en, "this year has part this day (occurrent parthood)"@en; "a core relation that holds between a whole and its part"@en; "Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part."@en, "Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/"@en, """Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'."""@en; rdfs:label "has part"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:2cd2; "x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point."@en; "An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other."@en; rdfs:label "preceded by"@en . _:2cd2 rdf:first ; rdf:rest _:2ce2 . _:2ce2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:2cf2; "x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point."@en; rdfs:label "precedes"@en . _:2cf2 rdf:first ; rdf:rest _:2d02 . _:2d02 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty, owl:FunctionalProperty; rdfs:subPropertyOf ; owl:inverseOf ; "this fragility is a characteristic of this vase"@en, "this red color is a characteristic of this apple"@en; "a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence."@en; rdfs:label "characteristic of"@en . a owl:ObjectProperty, owl:InverseFunctionalProperty; rdfs:range ; "this apple is bearer of this red color"@en, "this vase is bearer of this fragility"@en; "Inverse of characteristic_of"@en; "A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist."@en; rdfs:label "has characteristic"@en . a owl:ObjectProperty; owl:inverseOf ; rdfs:domain ; rdfs:range ; "this blood clot participates in this blood coagulation"@en, "this input material (or this output material) participates in this process"@en, "this investigator participates in this investigation"@en; "a relation between a continuant and a process, in which the continuant is somehow involved in the process"@en; rdfs:label "participates in"@en . a owl:ObjectProperty; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:2d12; "this blood coagulation has participant this blood clot"@en, "this investigation has participant this investigator"@en, "this process has participant this input material (or this output material)"@en; "a relation between a process and a continuant, in which the continuant is somehow involved in the process"@en; "Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time."@en; rdfs:label "has participant"@en . _:2d12 rdf:first ; rdf:rest _:2d22 . _:2d22 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; "this catalysis function is a function of this enzyme"@en; "a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence"@en; "A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists."@en; rdfs:label "function of"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; "this red color is a quality of this apple"@en; "a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence"@en; "A quality inheres in its bearer at all times for which the quality exists."@en; rdfs:label "quality of"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; "this investigator role is a role of this person"@en; "a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence"@en; "A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists."@en; rdfs:label "role of"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function)"@en; "a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence"@en; "A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists."@en; rdfs:label "has function"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:range ; "this apple has quality this red color"@en; "a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence"@en; "A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist."@en; rdfs:label "has quality"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "this person has role this investigator role (more colloquially: this person has this role of investigator)"@en; "a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence"@en; "A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists."@en; rdfs:label "has role"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; rdfs:range ; "a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence"@en; rdfs:label "has disposition"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "inverse of has disposition"; rdfs:label "disposition of"@en . a owl:ObjectProperty, owl:TransitiveProperty; owl:inverseOf ; "my head is the location of my brain"@en, "this cage is the location of this rat"@en; "a relation between two independent continuants, the location and the target, in which the target is entirely within the location"@en; "Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/"@en; rdfs:label "location of"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:domain , _:2d32; rdfs:range , _:2d72; owl:propertyChainAxiom _:2db2; "my brain is located in my head"@en, "this rat is located in this cage"@en; "a relation between two independent continuants, the target and the location, in which the target is entirely within the location"@en; "Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus"@en, "Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/"@en; rdfs:label "located in"@en . _:2d32 a owl:Class; owl:intersectionOf _:2d42 . _:2d42 rdf:first ; rdf:rest _:2d62 . _:2d62 rdf:first _:2d52; rdf:rest rdf:nil . _:2d52 a owl:Class; owl:complementOf . _:2d72 a owl:Class; owl:intersectionOf _:2d82 . _:2d82 rdf:first ; rdf:rest _:2da2 . _:2da2 rdf:first _:2d92; rdf:rest rdf:nil . _:2d92 a owl:Class; owl:complementOf . _:2db2 rdf:first ; rdf:rest _:2dc2 . _:2dc2 rdf:first ; rdf:rest rdf:nil . _:2dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:range; owl:annotatedTarget ; "This is redundant with the more specific 'independent and not spatial region' constraint. We leave in the redundant axiom for use with reasoners that do not use negation." . _:2de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdfs:domain; owl:annotatedTarget ; "This is redundant with the more specific 'independent and not spatial region' constraint. We leave in the redundant axiom for use with reasoners that do not use negation." . a owl:ObjectProperty; rdfs:subPropertyOf , ; "A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B."; rdfs:label "has regulatory component activity" . a owl:ObjectProperty; rdfs:subPropertyOf , ; "A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B."; rdfs:label "has negative regulatory component activity" . a owl:ObjectProperty; rdfs:subPropertyOf , ; "A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B."; rdfs:label "has positive regulatory component activity" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "has component activity" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type."; rdfs:label "has component process" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:label "directly regulated by" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; "Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1."; rdfs:label "directly negatively regulated by" . _:2df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1."; . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; "Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1."; rdfs:label "directly positively regulated by" . _:2e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1."; . a owl:ObjectProperty, owl:FunctionalProperty; rdfs:subPropertyOf ; "A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity."; rdfs:label "has effector activity" . _:2e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity."; . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; rdfs:label "ends after"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:label "immediately preceded by"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "immediately precedes"@en . a owl:ObjectProperty, owl:SymmetricProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:2e22, _:2e42, _:2e62; ; "x overlaps y if and only if there exists some z such that x has part z and z part of y"; rdfs:label "overlaps"@en . _:2e22 rdf:first ; rdf:rest _:2e32 . _:2e32 rdf:first ; rdf:rest rdf:nil . _:2e42 rdf:first ; rdf:rest _:2e52 . _:2e52 rdf:first ; rdf:rest rdf:nil . _:2e62 rdf:first ; rdf:rest _:2e72 . _:2e72 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; ; "w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type."; "The definition of 'has component' is still under discussion. The challenge is in providing a definition that does not imply transitivity."; rdfs:label "has component"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:2e82, _:2ea2; "p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q."; , "GO"; rdfs:label "regulates"@en . _:2e82 rdf:first ; rdf:rest _:2e92 . _:2e92 rdf:first ; rdf:rest rdf:nil . _:2ea2 rdf:first ; rdf:rest _:2eb2 . _:2eb2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:inverseOf ; "p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q."; ; rdfs:label "negatively regulates"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf , ; owl:inverseOf ; owl:propertyChainAxiom _:2ec2; "p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q."; ; rdfs:label "positively regulates"@en . _:2ec2 rdf:first ; rdf:rest _:2ed2 . _:2ed2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "mechanosensory neuron capable of detection of mechanical stimulus involved in sensory perception (GO:0050974)", "osteoclast SubClassOf 'capable of' some 'bone resorption'"; "A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. "; , ; rdfs:label "capable of"@en . a owl:ObjectProperty; rdfs:subPropertyOf , ; "c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p."; rdfs:label "capable of part of"@en . a owl:ObjectProperty; rdfs:domain ; rdfs:range ; ; ; rdfs:label "temporally related to"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; rdfs:domain ; ; "p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p."; rdfs:label "has input"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:2ee2; "A faulty traffic light (material entity) whose malfunctioning (a process) is causally upstream of a traffic collision (a process): the traffic light acts upstream of the collision."; "c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes."; rdfs:label "acts upstream of" . _:2ee2 rdf:first ; rdf:rest _:2ef2 . _:2ef2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:2f02; "A gene product that has some activity, where that activity may be a part of a pathway or upstream of the pathway."; "c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process."; "affects"; rdfs:label "acts upstream of or within" . _:2f02 rdf:first ; rdf:rest _:2f12 . _:2f12 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q."; rdfs:label "causally upstream of, positive effect" . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q."; rdfs:label "causally upstream of, negative effect" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:2f22; "q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w."; "Because part_of is transitive, inheres in is a sub-relation of characteristic of part of"; ; rdfs:label "characteristic of part of"@en . _:2f22 rdf:first ; rdf:rest _:2f32 . _:2f32 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; "A mereological relationship or a topological relationship"; rdfs:label "mereotopologically related to"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; owl:propertyChainAxiom _:2f42, _:2f62; "a particular instances of akt-2 enables some instance of protein kinase activity"; "c enables p iff c is capable of p and c acts to execute p."; rdfs:label "enables"@en . _:2f42 rdf:first ; rdf:rest _:2f52 . _:2f52 rdf:first ; rdf:rest rdf:nil . _:2f62 rdf:first ; rdf:rest _:2f72 . _:2f72 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; "A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities."; rdfs:label "functionally related to"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "this relation holds between c and p when c is part of some c', and c' is capable of p."; rdfs:label "part of structure that is capable of"@en . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:2f82, _:2fa2; "c involved_in p if and only if c enables some process p', and p' is part of p"; rdfs:label "involved in"@en . _:2f82 rdf:first ; rdf:rest _:2f92 . _:2f92 rdf:first ; rdf:rest rdf:nil . _:2fa2 rdf:first ; rdf:rest _:2fb2 . _:2fb2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , ; "inverse of enables"; rdfs:label "enabled by"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "inverse of regulates"; rdfs:label "regulated by"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "inverse of negatively regulates"; rdfs:label "negatively regulated by"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "inverse of positively regulates"; rdfs:label "positively regulated by"@en . a owl:ObjectProperty; rdfs:subPropertyOf , ; "inverse of has input"; rdfs:label "input of"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:2fc2; "A lump of clay and a statue"; "x spatially_coextensive_with y if and inly if x and y have the same location"; rdfs:label "spatially coextensive with"@en . _:2fc2 rdf:first ; rdf:rest _:2fe2 . _:2fe2 rdf:first _:2fd2; rdf:rest rdf:nil . _:2fd2 owl:inverseOf . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:inverseOf ; ; "inverse of upstream of"; rdfs:label "causally downstream of"@en . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:inverseOf ; ; rdfs:label "immediately causally downstream of"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:2ff2, _:3012, _:3032, _:3052; "p indirectly positively regulates q iff p is indirectly causally upstream of q and p positively regulates q."; rdfs:label "indirectly positively regulates"@en . _:2ff2 rdf:first ; rdf:rest _:3002 . _:3002 rdf:first ; rdf:rest rdf:nil . _:3012 rdf:first ; rdf:rest _:3022 . _:3022 rdf:first ; rdf:rest rdf:nil . _:3032 rdf:first ; rdf:rest _:3042 . _:3042 rdf:first ; rdf:rest rdf:nil . _:3052 rdf:first ; rdf:rest _:3062 . _:3062 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:3072, _:3092, _:30b2; "p indirectly negatively regulates q iff p is indirectly causally upstream of q and p negatively regulates q."; rdfs:label "indirectly negatively regulates"@en . _:3072 rdf:first ; rdf:rest _:3082 . _:3082 rdf:first ; rdf:rest rdf:nil . _:3092 rdf:first ; rdf:rest _:30a2 . _:30a2 rdf:first ; rdf:rest rdf:nil . _:30b2 rdf:first ; rdf:rest _:30c2 . _:30c2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; "relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause."; """This branch of the ontology deals with causal relations between entities. It is divided into two branches: causal relations between occurrents/processes, and causal relations between material entities. We take an 'activity flow-centric approach', with the former as primary, and define causal relations between material entities in terms of causal relations between occurrents. To define causal relations in an activity-flow type network, we make use of 3 primitives: * Temporal: how do the intervals of the two occurrents relate? * Is the causal relation regulatory? * Is the influence positive or negative? The first of these can be formalized in terms of the Allen Interval Algebra. Informally, the 3 bins we care about are 'direct', 'indirect' or overlapping. Note that all causal relations should be classified under a RO temporal relation (see the branch under 'temporally related to'). Note that all causal relations are temporal, but not all temporal relations are causal. Two occurrents can be related in time without being causally connected. We take causal influence to be primitive, elucidated as being such that has the upstream changed, some qualities of the donwstream would necessarily be modified. For the second, we consider a relationship to be regulatory if the system in which the activities occur is capable of altering the relationship to achieve some objective. This could include changing the rate of production of a molecule. For the third, we consider the effect of the upstream process on the output(s) of the downstream process. If the level of output is increased, or the rate of production of the output is increased, then the direction is increased. Direction can be positive, negative or neutral or capable of either direction. Two positives in succession yield a positive, two negatives in succession yield a positive, otherwise the default assumption is that the net effect is canceled and the influence is neutral. Each of these 3 primitives can be composed to yield a cross-product of different relation types."""; rdfs:label "causally related to"@en . _:30d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause."; "https://en.wikipedia.org/wiki/Causality" . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf , ; "p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q."; rdfs:label "causally upstream of"@en . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q."; rdfs:label "immediately causally upstream of"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; owl:inverseOf ; owl:propertyChainAxiom _:30e2; "p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q."; "We would like to make this disjoint with 'preceded by', but this is prohibited in OWL2"; "affects"; rdfs:label "causally upstream of or within" . _:30e2 rdf:first ; rdf:rest _:30f2 . _:30f2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:subPropertyOf ; "inverse of causally upstream of or within"; ; rdfs:label "causally downstream of or within" . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:3102, _:3122; "c involved in regulation of p if c is involved in some p' and p' regulates some p"; rdfs:label "involved in regulation of" . _:3102 rdf:first ; rdf:rest _:3112 . _:3112 rdf:first ; rdf:rest rdf:nil . _:3122 rdf:first ; rdf:rest _:3132 . _:3132 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3142, _:3162; "c involved in regulation of p if c is involved in some p' and p' positively regulates some p"; rdfs:label "involved in positive regulation of" . _:3142 rdf:first ; rdf:rest _:3152 . _:3152 rdf:first ; rdf:rest rdf:nil . _:3162 rdf:first ; rdf:rest _:3172 . _:3172 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3182, _:31a2; "c involved in regulation of p if c is involved in some p' and p' negatively regulates some p"; rdfs:label "involved in negative regulation of" . _:3182 rdf:first ; rdf:rest _:3192 . _:3192 rdf:first ; rdf:rest rdf:nil . _:31a2 rdf:first ; rdf:rest _:31b2 . _:31b2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , , ; "c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p"; "OWL does not allow defining object properties via a Union"; rdfs:label "involved in or involved in regulation of" . a owl:ObjectProperty, owl:SymmetricProperty; rdfs:domain ; rdfs:range ; "A relationship that holds between two entities in which the processes executed by the two entities are causally connected."; "Considering relabeling as 'pairwise interacts with'", "This relation and all sub-relations can be applied to either (1) pairs of entities that are interacting at any moment of time (2) populations or species of entity whose members have the disposition to interact (3) classes whose members have the disposition to interact."; rdfs:label "interacts with" . a owl:ObjectProperty, owl:SymmetricProperty; rdfs:subPropertyOf ; "An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other."; rdfs:label "molecularly interacts with" . a owl:ObjectProperty; rdfs:subPropertyOf ; "Axiomatization to GO to be added later"; rdfs:label "phosphorylates" . a owl:ObjectProperty; rdfs:subPropertyOf , ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:31c2; """The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B."""; rdfs:label "directly regulates activity of" . _:31c2 rdf:first ; rdf:rest _:31d2 . _:31d2 rdf:first ; rdf:rest _:31e2 . _:31e2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:31f2; """The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B."""; rdfs:label "directly negatively regulates activity of" . _:31f2 rdf:first ; rdf:rest _:3202 . _:3202 rdf:first ; rdf:rest _:3212 . _:3212 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:3222; """The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B."""; rdfs:label "directly positively regulates activity of" . _:3222 rdf:first ; rdf:rest _:3232 . _:3232 rdf:first ; rdf:rest _:3242 . _:3242 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:label "helper property (not for use in curation)" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "is kinase activity" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; "A relationship between a material entity and a process where the material entity has some causal role that influences the process"; ; rdfs:label "causal agent in process" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q."; ; rdfs:label "causal relation between processes" . a owl:ObjectProperty; rdfs:label "depends on" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "The intent is that the process branch of the causal property hierarchy is primary (causal relations hold between occurrents/processes), and that the material branch is defined in terms of the process branch"; ; rdfs:label "causal relation between entities" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:inverseOf ; ; rdfs:label "causally influenced by" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "interaction relation helper property" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "molecular interaction relation helper property" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:3252, _:3282; "The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size)."; ; rdfs:label "causally influences" . _:3252 rdf:first ; rdf:rest _:3262 . _:3262 rdf:first ; rdf:rest _:3272 . _:3272 rdf:first ; rdf:rest rdf:nil . _:3282 rdf:first ; rdf:rest _:3292 . _:3292 rdf:first ; rdf:rest _:32a2 . _:32a2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p directly regulates q iff p is immediately causally upstream of q and p regulates q."; ; rdfs:label "directly regulates" . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:32b2; "gland SubClassOf 'has part structure that is capable of' some 'secretion by cell'"; "s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p"; rdfs:label "has part structure that is capable of" . _:32b2 rdf:first ; rdf:rest _:32c2 . _:32c2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity."; "Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect."; ; rdfs:label "causal relation between material entity and a process" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:32d2; "pyrethroid -> growth"; "Holds between c and p if and only if c is capable of some activity a, and a regulates p."; ; rdfs:label "capable of regulating" . _:32d2 rdf:first ; rdf:rest _:32e2 . _:32e2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:32f2; "Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p."; ; rdfs:label "capable of negatively regulating" . _:32f2 rdf:first ; rdf:rest _:3302 . _:3302 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3312; "renin -> arteriolar smooth muscle contraction"; "Holds between c and p if and only if c is capable of some activity a, and a positively regulates p."; ; rdfs:label "capable of positively regulating" . _:3312 rdf:first ; rdf:rest _:3322 . _:3322 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; "Inverse of 'causal agent in process'"; ; rdfs:label "process has causal agent" . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p directly positively regulates q iff p is immediately causally upstream of q, and p positively regulates q."; ; rdfs:label "directly positively regulates" . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p directly negatively regulates q iff p is immediately causally upstream of q, and p negatively regulates q."; ; rdfs:label "directly negatively regulates" . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3332; "Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P."; rdfs:label "enables subfunction" . _:3332 rdf:first ; rdf:rest _:3342 . _:3342 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3352; rdfs:label "acts upstream of or within, positive effect" . _:3352 rdf:first ; rdf:rest _:3362 . _:3362 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3372; rdfs:label "acts upstream of or within, negative effect" . _:3372 rdf:first ; rdf:rest _:3382 . _:3382 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:3392; "c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive"; rdfs:label "acts upstream of, positive effect" . _:3392 rdf:first ; rdf:rest _:33a2 . _:33a2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf , ; owl:propertyChainAxiom _:33b2; "c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative"; rdfs:label "acts upstream of, negative effect" . _:33b2 rdf:first ; rdf:rest _:33c2 . _:33c2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "causally upstream of or within, negative effect" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:label "causally upstream of or within, positive effect" . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; "The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B."; rdfs:label "regulates activity of" . a owl:ObjectProperty; rdfs:subPropertyOf ; "p is indirectly causally upstream of q iff p is causally upstream of q and there exists some process r such that p is causally upstream of r and r is causally upstream of q."; rdfs:label "indirectly causally upstream of"@en . a owl:ObjectProperty; rdfs:subPropertyOf , ; "p indirectly regulates q iff p is indirectly causally upstream of q and p regulates q."; rdfs:label "indirectly regulates"@en . a owl:ObjectProperty; owl:propertyChainAxiom _:33d2; "A diagnostic testing device utilizes a specimen."; "X device utilizes material Y means X and Y are material entities, and X is capable of some process P that has input Y."; , ; rdfs:label "device utilizes material"@en . _:33d2 rdf:first ; rdf:rest _:33e2 . _:33e2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; rdfs:domain ; rdfs:range ; owl:propertyChainAxiom _:33f2; "A relationship that holds between a process and a characteristic in which process (P) regulates characteristic (C) iff: P results in the existence of C OR affects the intensity or magnitude of C."; ; rdfs:label "regulates characteristic" . _:33f2 rdf:first ; rdf:rest _:3402 . _:3402 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3412; "A relationship that holds between a process and a characteristic in which process (P) positively regulates characteristic (C) iff: P results in an increase in the intensity or magnitude of C."; ; rdfs:label "positively regulates characteristic" . _:3412 rdf:first ; rdf:rest _:3422 . _:3422 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; owl:propertyChainAxiom _:3432, _:3452; "A relationship that holds between a process and a characteristic in which process (P) negatively regulates characteristic (C) iff: P results in a decrease in the intensity or magnitude of C."; ; rdfs:label "negatively regulates characteristic" . _:3432 rdf:first ; rdf:rest _:3442 . _:3442 rdf:first ; rdf:rest rdf:nil . _:3452 rdf:first ; rdf:rest _:3462 . _:3462 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; "Inverse of 'has component'."; ; rdfs:label "component of" . a owl:ObjectProperty; owl:inverseOf ; rdfs:domain ; rdfs:range _:3472; "A relation between a cohort aggregation and a cohort, or another cohort aggregation, whose participants or data it combines or compares."@en; rdfs:label "hasCohort"@en . _:3472 a owl:Class; owl:unionOf _:3482 . _:3482 rdf:first ; rdf:rest _:3492 . _:3492 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; owl:inverseOf ; rdfs:domain ; rdfs:range ; "A relation between a cohort and a cohort whose participants are drawn from it: a sub-study, a sub-sample or a component trial. The inverse of isSubCohortOf."@en; rdfs:label "hasSubCohort"@en . a owl:ObjectProperty, owl:TransitiveProperty; rdfs:range ; owl:propertyChainAxiom _:34a2; "A relation between a cohort and a geographical area in which its participants were recruited. Where the data were analysed or are stored does not count."@en; rdfs:label "has_data_collection_location"@en . _:34a2 rdf:first ; rdf:rest _:34b2 . _:34b2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:domain _:34c2; "A relation between a cohort and a disease it is about: the disease its participants have, the disease they were selected for their risk of, or the disease a population study was set up to study. Asserted only through its sub-properties, which say which of these it is, as a type of the cohort (has_patients_with some D) carrying the sentence that shows the recruitment basis or purpose, its source and the disease as the source names it. A general population cohort, a biobank of unselected donors or a cohort with a broad purpose has no disease of interest."@en; rdfs:label "has_disease_of_interest"@en . _:34c2 a owl:Class; owl:unionOf _:34d2 . _:34d2 rdf:first ; rdf:rest _:34e2 . _:34e2 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:domain _:34f2; "A relation between a cohort and an environmental exposure it is about: the exposure its participants were selected for, or the exposure the cohort was designed to study. Asserted only through its sub-properties, which say which of these it is, as a type of the cohort (has_participants_with_exposure some E) carrying the sentence that shows the recruitment basis or purpose, its source and the exposure as the source names it. A general population, biobank, disease or trial cohort that measures exposures among many other variables has no exposure of interest, and a genotype, a medication, a medical procedure or socio-economic status by itself is not an exposure here."@en; rdfs:label "has_exposure_of_interest"@en . _:34f2 a owl:Class; owl:unionOf _:3502 . _:3502 rdf:first ; rdf:rest _:3512 . _:3512 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:subPropertyOf ; "A relation between a cohort and a disease its participants were selected for their risk of: relatives of patients, carriers of a mutation, people with a pre-disease state, or a group chosen for its high risk of the disease."@en; rdfs:label "has_participants_at_risk_of"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "A relation between a cohort and an environmental exposure its participants were selected for, or are followed for: residents of a contaminated or disaster area, survivors of an event, workers in an industry or trade, smokers recruited as smokers, veterans of a deployment, or a birth cohort exposed to a famine."@en; rdfs:label "has_participants_with_exposure"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "A relation between a cohort and a disease its participants have: a patient series, a disease registry, the cases of a case-control study, the participants of a trial of the condition, or a biobank of patients with the disease."@en; rdfs:label "has_patients_with"@en . a owl:ObjectProperty; rdfs:domain _:3522; rdfs:range ; "A relation between a cohort, or a cohort aggregation, and a cohort aggregation that combines or compares its participants or data. The inverse of hasCohort."@en; rdfs:label "isCohortOf"@en . _:3522 a owl:Class; owl:unionOf _:3532 . _:3532 rdf:first ; rdf:rest _:3542 . _:3542 rdf:first ; rdf:rest rdf:nil . a owl:ObjectProperty; rdfs:domain ; rdfs:range ; "A relation between a cohort and the cohort its participants are drawn from, of which it is a sub-study, a sub-sample or a component trial."@en; rdfs:label "isSubCohortOf"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "A relation between a cohort and an environmental exposure that its stated purpose or design centres on measuring, with its effects, its participants not being selected for the exposure: an exposome cohort, a birth cohort built around prenatal exposure to a pollutant, an air pollution cohort, a diet and cancer cohort, or an occupational health cohort."@en; rdfs:label "is_designed_to_study_exposure"@en . a owl:ObjectProperty; rdfs:subPropertyOf ; "A relation between a cohort and a disease, or a family of diseases, that a general population or birth cohort was set up to study, its participants not being selected for having the disease or for their risk of it."@en; rdfs:label "is_population_study_of"@en . a owl:Class; "BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81"@en; rdfs:label "entity"@en . a owl:Class; rdfs:subClassOf , _:3552; owl:disjointWith , _:3562; "An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts."@en; "BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240"@en; rdfs:label "continuant"@en . _:3552 a owl:Restriction; owl:onProperty ; owl:allValuesFrom . _:3562 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf , _:3572; owl:disjointWith _:3582; "An entity that has temporal parts and that happens, unfolds or develops through time."@en; rdfs:label "occurrent"@en . _:3572 a owl:Restriction; owl:onProperty ; owl:allValuesFrom . _:3582 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf , _:3592; owl:disjointWith ; "b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])"@en; rdfs:label "independent continuant"@en . _:3592 a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf ; rdfs:label "spatial region"@en . a owl:Class; rdfs:subClassOf ; "p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])"@en; rdfs:label "process"@en . a owl:Class; rdfs:subClassOf ; owl:disjointWith ; "BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type."@en; rdfs:label "disposition"@en . a owl:Class; rdfs:subClassOf , _:35a2; owl:disjointWith ; "A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances."@en; rdfs:label "realizable entity"@en . _:35a2 a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf , _:35b2; rdfs:label "quality"@en . _:35b2 a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf , _:35c2; "b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])"@en; rdfs:label "specifically dependent continuant"@en . _:35c2 a owl:Restriction; owl:onProperty ; owl:allValuesFrom . a owl:Class; rdfs:subClassOf ; "A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts."@en; rdfs:label "role"@en . a owl:Class; rdfs:subClassOf ; rdfs:label "function"@en . a owl:Class; rdfs:subClassOf ; owl:disjointWith , _:35d2; "An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time."@en; "Elucidation: An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time."@en; rdfs:label "material entity"@en . _:35d2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf ; owl:disjointWith _:35e2; rdfs:label "immaterial entity"@en . _:35e2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to radiation."; rdfs:label "exposure to radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to electromagnetic radiation."; rdfs:label "exposure to electromagnetic radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to ultraviolet radiation."; rdfs:label "exposure to ultraviolet radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to environmental material."; rdfs:label "exposure to environmental material" . a owl:Class; rdfs:subClassOf ; "An exposure to organic molecular entity."; rdfs:label "exposure to organic compound" . a owl:Class; rdfs:subClassOf ; "An exposure to organic cyclic compound."; rdfs:label "exposure to organic cyclic compound" . a owl:Class; rdfs:subClassOf ; "An exposure to lipid."; rdfs:label "exposure to lipid" . a owl:Class; rdfs:subClassOf ; "An exposure to chemical entity."; rdfs:label "exposure to chemical" . a owl:Class; rdfs:subClassOf ; "An exposure to oxygen molecular entity."; rdfs:label "exposure to oxygen molecular entity" . a owl:Class; rdfs:subClassOf ; "An exposure to transition element molecular entity."; rdfs:label "exposure to transition element" . a owl:Class; rdfs:subClassOf ; "An exposure to biological role."; rdfs:label "exposure to chemical with biological effect" . a owl:Class; rdfs:subClassOf ; "An exposure to application."; rdfs:label "exposure to chemical with application" . a owl:Class; rdfs:subClassOf ; "An exposure to chemical role."; rdfs:label "exposure to chemical with chemical role" . a owl:Class; rdfs:subClassOf ; "An exposure to drug."; rdfs:label "exposure to drug" . a owl:Class; rdfs:subClassOf ; "An exposure to herbicide."; rdfs:label "exposure to herbicide" . a owl:Class; rdfs:subClassOf , ; "An exposure to hormone."; rdfs:label "exposure to hormone" . a owl:Class; rdfs:subClassOf ; "An exposure to mycotoxin."; rdfs:label "exposure to mycotoxin" . a owl:Class; rdfs:subClassOf ; "An exposure to pesticide."; rdfs:label "exposure to pesticide" . a owl:Class; rdfs:subClassOf ; "An exposure to toxin."; rdfs:label "exposure to toxin" . a owl:Class; rdfs:subClassOf ; "An exposure to molecular messenger."; rdfs:label "exposure to molecular messenger" . a owl:Class; rdfs:subClassOf ; "An exposure to agonist."; rdfs:label "exposure to agonist" . a owl:Class; rdfs:subClassOf ; "An exposure to allergen."; rdfs:label "exposure to allergen" . a owl:Class; rdfs:subClassOf ; "An exposure to environmental contaminant."; rdfs:label "exposure to environmental contaminant" . a owl:Class; rdfs:subClassOf , ; "A exposure event involving the interaction of an exposure receptor to decreased temperature."; rdfs:label "exposure to decreased temperature" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Alcohol Consumption"; rdfs:label "exposure to alcohol consumption" . a owl:Class; rdfs:subClassOf , ; "An exposure to aflatoxin."; rdfs:label "exposure to aflatoxin" . a owl:Class; rdfs:subClassOf , ; "An exposure to organochlorine compound."; rdfs:label "exposure to organochlorine compound" . a owl:Class; rdfs:subClassOf ; "An exposure to cadmium molecular entity."; rdfs:label "exposure to cadmium" . a owl:Class; rdfs:subClassOf ; "An exposure to mercury molecular entity."; rdfs:label "exposure to mercury" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Occupation"; rdfs:label "exposure to occupation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to quality."; rdfs:label "exposure to environmental quality" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to qualitative."; rdfs:label "exposure to qualitative environmental quality" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to physical object quality."; rdfs:label "exposure to environmental physical object quality" . a owl:Class; rdfs:subClassOf ; "An exposure event involving mediterranean diet"; rdfs:label "exposure to mediterranean diet" . a owl:Class; rdfs:subClassOf ; "An exposure to rye bread (enriched) via ingestion."; rdfs:label "exposure to rye bread via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to tea (steeped) via ingestion."; rdfs:label "exposure to tea (steeped) via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to walnut (raw) via ingestion."; rdfs:label "exposure to walnuts via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to omega-3- fatty acid supplement via ingestion."; rdfs:label "exposure to omega-3- fatty acid supplement via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to legume food product via ingestion."; rdfs:label "exposure to legume food product via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to cow milk (liquid) via ingestion."; rdfs:label "exposure to cow milk (liquid) via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to sodium chloride food material via ingestion."; rdfs:label "exposure to sodium chloride food material via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to human milk (raw) via ingestion."; rdfs:label "exposure to human milk (raw) via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to vegetable food product via ingestion."; rdfs:label "exposure to vegetable food product via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to dietary supplement, vitamin(s) and fatty acids via ingestion."; rdfs:label "exposure to dietary supplement, vitamin(s) and fatty acids via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to arsenic atom mixed in liquid water via ingestion route."; rdfs:label "exposure to arsenic in water via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure event involving nicotine consumption of an addictive substance"; rdfs:label "exposure to nicotine addictive consumption" . a owl:Class; rdfs:subClassOf ; "An exposure event involving nicotine smoking behavior"; rdfs:label "exposure to smoking nicotine" . a owl:Class; rdfs:subClassOf ; "An exposure event involving nicotine cigarette smoking behavior"; rdfs:label "exposure to cigarette smoking" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Cannabis sativa consumption of an addictive substance"; rdfs:label "exposure to cannabis" . a owl:Class; rdfs:subClassOf ; "An exposure event involving morphinane alkaloid consumption of an addictive substance"; rdfs:label "exposure to morphiane alkaloid" . a owl:Class; rdfs:subClassOf ; "An exposure event involving nicotine tobacco consumption"; rdfs:label "exposure to tobacco" . a owl:Class; rdfs:subClassOf ; "An exposure event involving nicotine smoking behavior via maternal"; rdfs:label "exposure to smoking nicotine via maternal" . a owl:Class; rdfs:subClassOf , ; "An exposure event involving nicotine cigarette smoking behavior via maternal"; rdfs:label "exposure to cigarette smoking via maternal" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to environmental system."; rdfs:label "exposure to environmental system" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to child care environment."; rdfs:label "exposure to child care environment" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to environmental system process happening in exposure route of the receptor."; rdfs:label "exposure to environmental process route" . a owl:Class; rdfs:subClassOf , ; "A exposure event involving the interaction of an exposure receptor to air pollution happening in maternal of the receptor."; rdfs:label "exposure to air pollution via maternal" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to famine happening in maternal of the receptor."; rdfs:label "exposure to famine via maternal" . a owl:Class; rdfs:subClassOf , ; "An exposure to mercury molecular entity via ingestion route."; rdfs:label "exposure to mercury via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to B vitamin via ingestion route."; rdfs:label "exposure to vitamin B via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to potassium atom via ingestion route."; rdfs:label "exposure to potassium via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to chemical entity via ingestion route."; rdfs:label "exposure to chemical entity via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to allergen via inhalation route."; rdfs:label "exposure to allergen via inhalation" . a owl:Class; rdfs:subClassOf , ; "An exposure to caffeine via ingestion route."; rdfs:label "exposure to caffeine via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to polyunsaturated fatty acid via ingestion route."; rdfs:label "exposure to polyunsaturated fatty acid via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to nutrient via ingestion route."; rdfs:label "exposure to nutrient via ingestion" . a owl:Class; rdfs:subClassOf , , ; "An exposure to nicotinamide via ingestion route."; rdfs:label "exposure to nicotinamide via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to food component via ingestion route."; rdfs:label "exposure to food component via ingestion" . a owl:Class; rdfs:subClassOf ; "An exposure to antioxidant via ingestion route."; rdfs:label "exposure to antioxidant via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to nitrate via ingestion route."; rdfs:label "exposure to nitrate via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to micronutrient via ingestion route."; rdfs:label "exposure to micronutrient via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to lipid via ingestion route."; rdfs:label "exposure to lipid via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to organonitrogen compound via ingestion route."; rdfs:label "exposure to organonitrogen compound via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to sodium chloride via ingestion route."; rdfs:label "exposure to sodium chloride via ingestion" . a owl:Class; rdfs:subClassOf , ; "An exposure to alkaloid via ingestion route."; rdfs:label "exposure to alkaloid via ingestion" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to the condition of environmental condition."; rdfs:label "exposure to environmental condition" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to the condition of weather."; rdfs:label "exposure to weather" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to farm."; rdfs:label "exposure to farm" . a owl:Class; rdfs:subClassOf ; "An exposure to medical action."; rdfs:label "exposure to medical action" . a owl:Class; rdfs:subClassOf ; "An exposure to calorie restrictive diet intake."; rdfs:label "exposure to calorie restrictive diet intake" . a owl:Class; rdfs:subClassOf ; "An exposure to dietary intervention."; rdfs:label "exposure to dietary intervention" . a owl:Class; rdfs:subClassOf ; "An exposure to high fat diet intake."; rdfs:label "exposure to high fat diet intake" . a owl:Class; rdfs:subClassOf ; "An exposure to pregnancy diet intake."; rdfs:label "exposure to pregnancy diet intake" . a owl:Class; rdfs:subClassOf ; "An exposure to radiation therapy."; rdfs:label "exposure to radiation therapy" . a owl:Class; rdfs:subClassOf ; "An exposure to iron supplementation."; rdfs:label "exposure to iron supplementation" . a owl:Class; rdfs:subClassOf ; "An exposure to fasting intervention."; rdfs:label "exposure to fasting intervention" . a owl:Class; rdfs:subClassOf ; "An exposure to low fat diet intake."; rdfs:label "exposure to low fat diet intake" . a owl:Class; rdfs:subClassOf , ; "An exposure to multivitamin supplementation."; rdfs:label "exposure to multivitamin supplementation" . a owl:Class; rdfs:subClassOf ; "A history of exposure to root."; rdfs:label "exposure to organism" . a owl:Class; rdfs:subClassOf ; "A history of exposure to Viruses."; rdfs:label "exposure to virus" . a owl:Class; rdfs:subClassOf ; "A history of exposure to Schistosoma mansoni."; rdfs:label "exposure to Schistosoma mansoni" . a owl:Class; rdfs:subClassOf ; "A history of exposure to human gammaherpesvirus 4."; rdfs:label "exposure to human gammaherpesvirus 4" . a owl:Class; rdfs:subClassOf ; "A history of exposure to Human immunodeficiency virus."; rdfs:label "exposure to Human immunodeficiency virus" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Activity"; rdfs:label "exposure to behavior" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Violence"; rdfs:label "exposure to violence" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Exercise"; rdfs:label "exposure to exercise" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Substance Abuse"; rdfs:label "exposure to substance abuse" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Drug Abuse"; rdfs:label "exposure to drug abuse" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Alcohol Abuse"; rdfs:label "exposure to alcohol abuse" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Smoking"; rdfs:label "exposure to smoking" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Smoking Cessation"; rdfs:label "exposure to smoking cessation" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Lifestyle"; rdfs:label "exposure to lifestyle" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Personal Behavior"; rdfs:label "exposure to personal behavior" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Dietary Practices"; rdfs:label "exposure to eating behavior" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Social Circumstances"; rdfs:label "exposure to social circumstances" . a owl:Class; rdfs:subClassOf , ; "An exposure event involving Tobacco Smoking"; rdfs:label "exposure to tobacco smoking" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Cigarette Smoking"; rdfs:label "exposure to Cigarette Smoking" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Physical Activity"; rdfs:label "exposure to Physical Activity" . a owl:Class; rdfs:subClassOf ; "An exposure event involving Tobacco Use"; rdfs:label "exposure to Tobacco Use" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to dust."; rdfs:label "exposure to dust" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to cement dust."; rdfs:label "exposure to cement dust" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to dust from plant parts."; rdfs:label "exposure to dust from plant parts" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to wood."; rdfs:label "exposure to wood" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to ionizing radiation."; rdfs:label "exposure to ionizing radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to gaseous environmental material."; rdfs:label "exposure to gaseous environmental material" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to smoke."; rdfs:label "exposure to smoke" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to liquid water."; rdfs:label "exposure to water in environment" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to particulate environmental material."; rdfs:label "exposure to particulate matter" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to organic material."; rdfs:label "exposure to organic material" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to aerosol."; rdfs:label "exposure to aerosol" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to respirable suspended particulate matter."; rdfs:label "exposure to respirable suspended particulate matter" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to fine respirable suspended particulate matter."; rdfs:label "exposure to fine respirable suspended particulate matter" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to ultrafine respirable suspended particulate matter."; rdfs:label "exposure to ultrafine respirable suspended particulate matter" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to drinking water."; rdfs:label "exposure to drinking water" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to diesel exhaust."; rdfs:label "exposure to diesel exhaust" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to emissions from petroleum combustion."; rdfs:label "exposure to emissions from petroleum combustion" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to environmental system process."; rdfs:label "exposure to environmental process" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to climate change."; rdfs:label "exposure to climate change" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to earthquake."; rdfs:label "exposure to earthquake" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to environmental pollution."; rdfs:label "exposure to environmental pollution" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to air pollution."; rdfs:label "exposure to air pollution" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to water pollution."; rdfs:label "exposure to water pollution" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to acoustic radiation."; rdfs:label "exposure to sound radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to gamma-ray radiation."; rdfs:label "exposure to gamma radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to radio wave radiation."; rdfs:label "exposure to radiowave radiation" . a owl:Class; rdfs:subClassOf ; "A exposure event involving the interaction of an exposure receptor to Solar radiation."; rdfs:label "exposure to Solar radiation" . a owl:Class; rdfs:subClassOf ; "An exposure to estrogen."; rdfs:label "exposure to estrogens" . a owl:Class; rdfs:subClassOf ; "An exposure to alkali metal salt."; rdfs:label "exposure to alkali metal salt" . a owl:Class; rdfs:subClassOf , ; "An exposure to alcohol."; rdfs:label "exposure to alcohol" . a owl:Class; rdfs:subClassOf ; "An exposure to arsenic molecular entity."; rdfs:label "exposure to arsenic" . a owl:Class; rdfs:subClassOf ; "An exposure to asbestos."; rdfs:label "exposure to asbestos" . a owl:Class; rdfs:subClassOf , ; "An exposure to ketone."; rdfs:label "exposure to ketone" . a owl:Class; rdfs:subClassOf ; "An exposure to biphenyls."; rdfs:label "exposure to biphenyls" . a owl:Class; rdfs:subClassOf , ; "An exposure to polychlorobiphenyl."; rdfs:label "exposure to polychlorobiphenyl" . a owl:Class; rdfs:subClassOf ; "An exposure to chlorine molecular entity."; rdfs:label "exposure to chlorine" . a owl:Class; rdfs:subClassOf ; "An exposure to radon molecular entity."; rdfs:label "exposure to radon" . a owl:Class; rdfs:subClassOf ; "An exposure to inorganic molecular entity."; rdfs:label "exposure to inorganic compound" . a owl:Class; rdfs:subClassOf ; "An exposure to metal cation."; rdfs:label "exposure to metal cation" . a owl:Class; rdfs:subClassOf , , ; "An exposure to nitrate."; rdfs:label "exposure to nitrate" . a owl:Class; rdfs:subClassOf , ; "An exposure to organonitrogen compound."; rdfs:label "exposure to organonitrogen compound" . a owl:Class; rdfs:subClassOf , ; "An exposure to purines."; rdfs:label "exposure to purines" . a owl:Class; rdfs:subClassOf ; "An exposure to amine."; rdfs:label "exposure to amine" . a owl:Class; rdfs:subClassOf , ; "An exposure to caffeine."; rdfs:label "exposure to caffeine" . a owl:Class; rdfs:subClassOf , ; "An exposure to lipopolysaccharide."; rdfs:label "exposure to lipopolysaccharide" . a owl:Class; rdfs:subClassOf ; "An exposure to nicotine."; rdfs:label "exposure to nicotine" . a owl:Class; rdfs:subClassOf , , ; "An exposure to nitrogen dioxide."; rdfs:label "exposure to nitrogen dioxide" . a owl:Class; rdfs:subClassOf , , ; "An exposure to cocaine."; rdfs:label "exposure to cocaine" . a owl:Class; rdfs:subClassOf ; "An exposure to alkaloid."; rdfs:label "exposure to alkaloid" . a owl:Class; rdfs:subClassOf , ; "An exposure to DDT."; rdfs:label "exposure to DDT" . a owl:Class; rdfs:subClassOf , ; "An exposure to organophosphorus compound."; rdfs:label "exposure to organophosphorus compound" . a owl:Class; rdfs:subClassOf , ; "An exposure to fatty acid."; rdfs:label "exposure to fatty acid" . a owl:Class; rdfs:subClassOf ; "An exposure to nitrogen molecular entity."; rdfs:label "exposure to nitrogen" . a owl:Class; rdfs:subClassOf ; "An exposure to salt."; rdfs:label "exposure to salt" . a owl:Class; rdfs:subClassOf ; "An exposure to polycyclic arene."; rdfs:label "exposure to polycyclic arene" . a owl:Class; rdfs:subClassOf , , ; "An exposure to atrazine."; rdfs:label "exposure to atrazine" . a owl:Class; rdfs:subClassOf , ; "An exposure to organofluorine compound."; rdfs:label "exposure to organofluorine compound" . a owl:Class; rdfs:subClassOf , ; "An exposure to chlordecone."; rdfs:label "exposure to chlordecone" . a owl:Class; rdfs:subClassOf , ; "An exposure to phthalate ester."; rdfs:label "exposure to phthalate ester" . a owl:Class; rdfs:subClassOf ; "An exposure to lead molecular entity."; rdfs:label "exposure to lead" . a owl:Class; rdfs:subClassOf ; "An exposure to manganese molecular entity."; rdfs:label "exposure to manganese" . a owl:Class; rdfs:subClassOf ; "An exposure to fluorine molecular entity."; rdfs:label "exposure to fluorine" . a owl:Class; rdfs:subClassOf ; "An exposure to phosphorus molecular entity."; rdfs:label "exposure to phosphorus" . a owl:Class; rdfs:subClassOf , , , ; "An exposure to sodium chloride."; rdfs:label "exposure to sodium chloride" . a owl:Class; rdfs:subClassOf , ; "An exposure to phenols."; rdfs:label "exposure to phenols" . a owl:Class; rdfs:subClassOf ; "An exposure to organochlorine insecticide."; rdfs:label "exposure to organochlorine insecticide" . a owl:Class; rdfs:subClassOf ; "An exposure to organochlorine pesticide."; rdfs:label "exposure to organochlorine pesticide" . a owl:Class; rdfs:subClassOf ; "An exposure to polychlorinated dibenzodioxines and related compounds."; rdfs:label "exposure to polychlorinated dibenzodioxines and related compounds" . a owl:Class; rdfs:subClassOf ; "An exposure to perfluorinated compound."; rdfs:label "exposure to perfluorinated compound" . a owl:Class; rdfs:subClassOf ; "An exposure to endocrine disruptor."; rdfs:label "exposure to endocrine disruptor" . a owl:Class; rdfs:subClassOf ; "An exposure to metalloid atom."; rdfs:label "exposure to metalloid" . a owl:Class; rdfs:subClassOf ; "An exposure to antioxidant."; rdfs:label "exposure to antioxidant" . a owl:Class; rdfs:subClassOf ; "An exposure to micronutrient."; rdfs:label "exposure to micronutrient" . a owl:Class; rdfs:subClassOf ; "An exposure to nutrient."; rdfs:label "exposure to nutrient" . a owl:Class; rdfs:subClassOf ; "An exposure to agrochemical."; rdfs:label "exposure to agrochemical" . a owl:Class; rdfs:subClassOf , ; "An exposure to B vitamin."; rdfs:label "exposure to B vitamin" . a owl:Class; rdfs:subClassOf ; "An exposure to phytoestrogen."; rdfs:label "exposure to phytoestrogen" . a owl:Class; rdfs:subClassOf ; "An exposure to persistent organic pollutant."; rdfs:label "exposure to persistent organic pollutant" . a owl:Class; rdfs:subClassOf ; "An exposure to food component."; rdfs:label "exposure to food component" . a owl:Class; rdfs:subClassOf ; "An exposure to plasticiser."; rdfs:label "exposure to plasticiser" . a owl:Class; rdfs:subClassOf , ; "An exposure to environmental food contaminant."; rdfs:label "exposure to environmental food contaminant" . a owl:Class; rdfs:subClassOf ; "An exposure to sex hormone."; rdfs:label "exposure to sex hormone" . a owl:Class; rdfs:subClassOf , , ; "An exposure to glyphosate."; rdfs:label "exposure to glyphosate" . a owl:Class; rdfs:subClassOf ; "An exposure to polycyclic hydrocarbon."; rdfs:label "exposure to polycyclic hydrocarbon" . a owl:Class; rdfs:subClassOf , ; "An exposure to isocyanates."; rdfs:label "exposure to isocyanates" . a owl:Class; rdfs:subClassOf , ; "An exposure to chlorobiphenyl."; rdfs:label "exposure to chlorobiphenyl" . a owl:Class; rdfs:subClassOf ; "An exposure to perfluoroalkyl substance."; rdfs:label "exposure to perfluoroalkyl substance" . a owl:Class; rdfs:subClassOf ; "An exposure to arsenic atom."; rdfs:label "exposure to arsenic atom" . a owl:Class; rdfs:subClassOf ; "An exposure to terpenoid."; rdfs:label "exposure to terpenoid" . a owl:Class; rdfs:subClassOf ; "An exposure to metabolite."; rdfs:label "exposure to metabolite" . a owl:Class; rdfs:subClassOf , , ; "An exposure to nicotinamide."; rdfs:label "exposure to nicotinamide" . a owl:Class; rdfs:subClassOf ; "An exposure to polyunsaturated fatty acid."; rdfs:label "exposure to polyunsaturated fatty acid" . a owl:Class; rdfs:subClassOf ; "An exposure to polyamine."; rdfs:label "exposure to polyamine" . a owl:Class; rdfs:subClassOf ; "An exposure to omega-3 fatty acid."; rdfs:label "exposure to omega-3 fatty acid" . a owl:Class; rdfs:subClassOf ; "An exposure to vitamin B3."; rdfs:label "exposure to vitamin B3" . a owl:Class; rdfs:subClassOf ; "An interaction between an exposure stressor and an exposure_receptor."; rdfs:label "exposure event" . a owl:Class; rdfs:subClassOf ; "A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs."; "This is the same as GO molecular function"@en; rdfs:label "gene product or complex activity"@en, "molecular_function" . _:35f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs."; "GOC:pdt" . a owl:Class; rdfs:subClassOf ; "A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence."; "Wikipedia:Biological_process"; "single organism process", "single-organism process"; rdfs:label "biological process"@en, "biological_process" . _:3602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence."; "GOC:pdt" . a owl:Class; rdfs:subClassOf , _:3612; "Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule."; "Reactome:R-HSA-6788855", "Reactome:R-HSA-6788867"; rdfs:label "kinase activity" . _:3612 a owl:Restriction; owl:onProperty ; owl:hasSelf true . _:3622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule."; "ISBN:0198506732" . _:3632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reactome:R-HSA-6788855"; rdfs:label "FN3KRP phosphorylates PsiAm, RibAm" . _:3642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Reactome:R-HSA-6788867"; rdfs:label "FN3K phosphorylates ketosamines" . a owl:Class; rdfs:label "All" . a owl:Class; rdfs:subClassOf ; "Deviation from the norm of height with respect to that which is expected according to age and gender norms."; rdfs:label "Abnormality of body height" . a owl:Class; rdfs:subClassOf ; "An abnormality of the urinary system."; rdfs:label "Abnormality of the urinary system" . a owl:Class; rdfs:subClassOf ; "A phenotypic abnormality."; rdfs:label "Phenotypic abnormality" . a owl:Class; rdfs:subClassOf ; "The presence of any abnormality of the genitourinary system."; "Genitourinary disease", "Genitourinary dysplasia"; rdfs:label "Abnormality of the genitourinary system" . a owl:Class; rdfs:subClassOf ; "An abnormality of head and neck."; rdfs:label "Abnormality of head or neck" . a owl:Class; rdfs:subClassOf ; "An abnormality of the head."; rdfs:label "Abnormality of the head" . a owl:Class; rdfs:subClassOf ; "Any abnormality of the size of the skull."; rdfs:label "Abnormality of skull size" . a owl:Class; rdfs:subClassOf , ; "Head circumference below 2 standard deviations below the mean for age and gender."; "Fyler:4310"; rdfs:label "Microcephaly" . a owl:Class; rdfs:subClassOf ; "Any abnormality of the eye, including location, spacing, and intraocular abnormalities."; "Eye disease"; rdfs:label "Abnormality of the eye" . _:3652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Eye disease"; . a owl:Class; rdfs:subClassOf ; "Abnormality of eyesight (visual perception)."; rdfs:label "Abnormality of vision" . a owl:Class; rdfs:subClassOf ; "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery."; rdfs:label "Visual impairment" . a owl:Class; rdfs:subClassOf ; "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina."; rdfs:label "Abnormality of refraction" . a owl:Class; rdfs:subClassOf ; "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry."; rdfs:label "Myopia" . a owl:Class; rdfs:subClassOf ; "An abnormality of the nervous system."; rdfs:label "Abnormality of the nervous system" . a owl:Class; rdfs:subClassOf ; "Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will."; rdfs:label "Atypical behavior" . a owl:Class; rdfs:subClassOf , ; "Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior."; "Depressive disorder"; rdfs:label "Depression" . a owl:Class; rdfs:subClassOf ; "A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action."; rdfs:label "Abnormal diminished volition" . a owl:Class; rdfs:subClassOf ; "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels."; rdfs:label "Insulin resistance" . a owl:Class; rdfs:subClassOf ; "An abnormality of the skeletal system."; rdfs:label "Abnormality of the skeletal system" . a owl:Class; rdfs:subClassOf ; "Any abnormality of the vertebral column."; "Abnormality of the backbone"; rdfs:label "Abnormality of the vertebral column" . _:3662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abnormality of the backbone"; . a owl:Class; rdfs:subClassOf , ; "An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone."; rdfs:label "Abnormal skull morphology" . a owl:Class; rdfs:subClassOf ; "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities."; rdfs:label "Abnormality of prenatal development or birth" . a owl:Class; rdfs:subClassOf ; "Loss of previously present mental abilities, generally in adults."; rdfs:label "Mental deterioration" . a owl:Class; rdfs:subClassOf ; "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain."; "Cerebrovascular accidents"; rdfs:label "Stroke" . a owl:Class; rdfs:subClassOf ; "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state."; rdfs:label "Encephalopathy" . a owl:Class; rdfs:subClassOf ; "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax."; "Abdomen abnormality"; rdfs:label "Abnormal abdomen morphology" . _:3672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Abdomen abnormality"; . a owl:Class; rdfs:subClassOf ; rdfs:label "Growth abnormality" . a owl:Class; rdfs:subClassOf ; "A deficiency or slowing down of growth pre- and postnatally."; "Very poor growth"; rdfs:label "Growth delay" . a owl:Class; rdfs:subClassOf ; "An abnormality of the larynx."; rdfs:label "Abnormality of the larynx" . a owl:Class; rdfs:subClassOf ; rdfs:label "Subglottic stenosis" . a owl:Class; rdfs:subClassOf ; "The birth of a baby of less than 37 weeks of gestational age."; rdfs:label "Premature birth" . a owl:Class; rdfs:subClassOf ; "Any abnormality of the cardiovascular system."; "Cardiovascular disease"; rdfs:label "Abnormality of the cardiovascular system" . _:3682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cardiovascular disease"; . a owl:Class; rdfs:subClassOf ; "Any structural anomaly of the heart."; rdfs:label "Abnormal heart morphology" . a owl:Class; rdfs:subClassOf , ; "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)."; rdfs:label "Sudden cardiac death" . a owl:Class; rdfs:subClassOf ; "Any abnormality of the aortic valve."; "Fyler:1400", "Fyler:1408"; rdfs:label "Abnormal aortic valve morphology" . a owl:Class; rdfs:subClassOf ; "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)."; rdfs:label "Bicuspid aortic valve" . a owl:Class; rdfs:subClassOf ; "A rapid heartrate that exceeds the range of the normal resting heartrate for age."; "Elevated heart rate", "Increased heart rate", "Rapid heart beat"; rdfs:label "Tachycardia" . _:3692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Elevated heart rate"; . _:36a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Increased heart rate"; . _:36b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rapid heart beat"; . a owl:Class; rdfs:subClassOf ; "Any structural abnormality of a cardiac valve."; "Valvular heart disease"; rdfs:label "Abnormal heart valve morphology" . a owl:Class; rdfs:subClassOf ; "A slower than normal heart rate (in adults, slower than 60 beats per minute)."; rdfs:label "Bradycardia" . a owl:Class; rdfs:subClassOf , , ; "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia."; rdfs:label "Coronary artery atherosclerosis" . a owl:Class; rdfs:subClassOf , ; "An abnormality of the aorta."; "Fyler:1453"; rdfs:label "Abnormal aortic morphology" . a owl:Class; rdfs:subClassOf ; "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia."; rdfs:label "Angina pectoris" . a owl:Class; rdfs:subClassOf ; "An abrupt loss of heart function."; rdfs:label "Cardiac arrest" . a owl:Class; rdfs:subClassOf ; "Rapid and unexpected death."; rdfs:label "Sudden death" . a owl:Class; rdfs:subClassOf ; "An abnormality of the hematopoietic system."; "Hematologic disease"; rdfs:label "Abnormality of blood and blood-forming tissues" . a owl:Class; rdfs:subClassOf ; rdfs:label "Abnormality of metabolism/homeostasis" . a owl:Class; rdfs:subClassOf ; "Body temperature elevated above the normal range."; rdfs:label "Fever" . a owl:Class; rdfs:subClassOf ; "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)."; rdfs:label "Glucose intolerance" . a owl:Class; rdfs:subClassOf ; "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)."; rdfs:label "Abnormal thrombosis" . a owl:Class; rdfs:subClassOf ; "A structural abnormality of the central nervous system."; "Central nervous system disease"; rdfs:label "Morphological central nervous system abnormality" . a owl:Class; rdfs:subClassOf ; "Any structural abnormality of the telencephalon, which is also known as the cerebrum."; rdfs:label "Abnormal cerebral morphology" . a owl:Class; rdfs:subClassOf ; "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles."; rdfs:label "Abnormality of the respiratory system" . a owl:Class; rdfs:subClassOf ; "An abnormality of the upper respiratory tract."; rdfs:label "Abnormality of the upper respiratory tract" . a owl:Class; rdfs:subClassOf , , ; "Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured."; rdfs:label "Ischemic stroke" . a owl:Class; rdfs:subClassOf ; "An abnormal pattern in the quality, quantity, or characteristics of sleep."; rdfs:label "Sleep disturbance" . a owl:Class; rdfs:subClassOf ; "An abnormality of the vasculature."; rdfs:label "Abnormality of the vasculature" . a owl:Class; rdfs:subClassOf ; "An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm)."; "Fyler:2399"; "Aneurysmal disease"; rdfs:label "Vascular dilatation" . _:36c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aneurysmal disease"; . a owl:Class; rdfs:subClassOf ; "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow."; rdfs:label "Atherosclerosis" . a owl:Class; rdfs:subClassOf ; "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected."; rdfs:label "Deep venous thrombosis" . a owl:Class; rdfs:subClassOf ; "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity."; rdfs:label "Arteriosclerosis" . a owl:Class; rdfs:subClassOf ; "Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue."; rdfs:label "Cerebral ischemia" . a owl:Class; rdfs:subClassOf ; "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor)."; "NCIT:C3262"; "Cancer", "Oncology"; rdfs:label "Neoplasm" . _:36d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cancer"; . a owl:Class; rdfs:subClassOf ; "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells."; "NCIT:C7065"; rdfs:label "Lymphoma" . a owl:Class; rdfs:subClassOf ; "An abnormality of the immune system."; rdfs:label "Abnormality of the immune system" . a owl:Class; rdfs:subClassOf ; "Abnormal function of the respiratory system."; "Fyler:4200"; "Impaired pulmonary function", "Respiratory problem"; rdfs:label "Abnormal respiratory system physiology" . _:36e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Respiratory problem"; . a owl:Class; rdfs:subClassOf ; "Absence or underdevelopment of tissue in the central nervous system."; rdfs:label "Aplasia/Hypoplasia involving the central nervous system" . a owl:Class; rdfs:subClassOf ; "Abnormality originating in one or more muscles, i.e., of the set of muscles of body."; rdfs:label "Abnormality of the musculature" . a owl:Class; rdfs:subClassOf ; "Any deviation from the normal concentration of cholesterol in the blood circulation."; rdfs:label "Abnormal circulating cholesterol concentration" . a owl:Class; rdfs:subClassOf , ; "An abnormality of the composition of urine or the levels of its components."; rdfs:label "Abnormality of urine homeostasis" . a owl:Class; rdfs:subClassOf ; "Any deviation from the normal concentration of lipid in the blood circulation."; "Dyslipidaemia", "Dyslipidemia"; rdfs:label "Abnormal circulating lipid concentration" . _:36f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dyslipidaemia"; . a owl:Class; rdfs:subClassOf ; "An increased concentration of cholesterol in the blood."; rdfs:label "Hypercholesterolemia" . a owl:Class; rdfs:subClassOf ; "The presence of skeletal muscular atrophy (which is also known as amyotrophy)."; rdfs:label "Skeletal muscle atrophy" . a owl:Class; rdfs:subClassOf , ; "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back."; rdfs:label "Back pain" . a owl:Class; rdfs:subClassOf ; "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back."; rdfs:label "Low back pain" . a owl:Class; rdfs:subClassOf , ; "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)."; rdfs:label "Short stature" . a owl:Class; rdfs:subClassOf ; "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body."; "Abnormality of habitus"; rdfs:label "Abnormality of body weight" . a owl:Class; rdfs:subClassOf ; "Abnormally increased body weight."; "Weight gain"; rdfs:label "Increased body weight" . _:3702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Weight gain"; . a owl:Class; rdfs:subClassOf ; "An abnormality of temperature homeostasis."; "Body temperature changes"; rdfs:label "Abnormality of temperature regulation" . _:3712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Body temperature changes"; . a owl:Class; rdfs:subClassOf , ; "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)."; rdfs:label "Hematological neoplasm" . a owl:Class; rdfs:subClassOf ; rdfs:label "Precocious atherosclerosis" . a owl:Class; rdfs:subClassOf , ; "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles."; rdfs:label "Supraventricular tachycardia" . a owl:Class; rdfs:subClassOf ; "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow."; rdfs:label "Venous thrombosis" . a owl:Class; rdfs:subClassOf , ; "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter."; "Fyler:2301", "Fyler:2708"; rdfs:label "Aortic aneurysm" . a owl:Class; rdfs:subClassOf ; "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta."; "Fyler:2310", "Fyler:2701"; rdfs:label "Ascending tubular aorta aneurysm" . a owl:Class; rdfs:subClassOf ; "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm."; rdfs:label "Supraventricular arrhythmia" . a owl:Class; rdfs:subClassOf ; "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole."; rdfs:label "Abnormal left ventricular function" . a owl:Class; rdfs:subClassOf ; "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45."; rdfs:label "Premature coronary artery atherosclerosis" . a owl:Class; rdfs:subClassOf ; "Obstruction of conducting airways of the lung."; rdfs:label "Airway obstruction" . a owl:Class; rdfs:subClassOf ; "Any structural abnormality of the coronary arteries."; "Fyler:3100"; rdfs:label "Abnormal coronary artery morphology" . a owl:Class; rdfs:subClassOf ; "Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event."; rdfs:label "Transient psychotic episodes" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Aplasia/Hypoplasia of the cerebrum" . a owl:Class; rdfs:subClassOf , ; "A tumor (abnormal growth of tissue) of the genitourinary system."; "NCIT:C3262"; "Genitourinary tract neoplasia"; rdfs:label "Neoplasm of the genitourinary tract" . a owl:Class; rdfs:subClassOf ; "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum."; "Abnormality of the axial skeleton"; rdfs:label "Abnormal axial skeleton morphology" . a owl:Class; rdfs:subClassOf ; "A functional abnormality of the immune system."; rdfs:label "Abnormality of immune system physiology" . a owl:Class; rdfs:subClassOf ; "A severe form of myopia with greater than -6.00 diopters."; rdfs:label "High myopia" . a owl:Class; rdfs:subClassOf ; "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries."; "Fyler:2600"; "Arterial abnormalities"; rdfs:label "Abnormal systemic arterial morphology" . a owl:Class; rdfs:subClassOf ; "A deviation from the normal concentration of a carbohydrate in the blood circulation."; rdfs:label "Abnormal circulating carbohydrate concentration" . a owl:Class; rdfs:subClassOf ; "Abnormality of glucose homeostasis."; rdfs:label "Abnormal glucose homeostasis" . a owl:Class; rdfs:subClassOf , ; "An abnormality of the concentration of glucose in the blood."; rdfs:label "Abnormal blood glucose concentration" . a owl:Class; rdfs:subClassOf ; "Abnormal functionality of the cardiovascular system."; rdfs:label "Abnormal cardiovascular system physiology" . a owl:Class; rdfs:subClassOf ; rdfs:label "Abnormality of the urinary system physiology" . a owl:Class; rdfs:subClassOf ; "Cognitive, psychiatric, or memory anomaly."; rdfs:label "Abnormality of mental function" . a owl:Class; rdfs:subClassOf ; "Head circumference below 2 standard deviations below the mean for age and gender at birth."; "Head circumference small for gestational age"; rdfs:label "Primary microcephaly" . a owl:Class; rdfs:subClassOf ; "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both."; rdfs:label "Arrhythmia" . a owl:Class; rdfs:subClassOf ; "Neoplasm categorized according to the anatomical site of origin of the neoplasm."; rdfs:label "Neoplasm by anatomical site" . a owl:Class; rdfs:subClassOf ; "A structural abnormality of a skeletal muscle."; rdfs:label "Abnormal skeletal muscle morphology" . a owl:Class; rdfs:subClassOf ; "An abnormality of the form, structure, or size of the skeletal system."; rdfs:label "Abnormal skeletal morphology" . a owl:Class; rdfs:subClassOf ; "A type of lymphoma that originates in B-cells."; rdfs:label "B-cell lymphoma" . a owl:Class; rdfs:subClassOf ; "A structural anomaly of the respiratory system."; "Fyler:4235"; rdfs:label "Abnormal respiratory system morphology" . a owl:Class; rdfs:subClassOf ; "An anomaly in the processes involved in the maintenance of an internal equilibrium."; "MP:0001764"; rdfs:label "Abnormal homeostasis" . a owl:Class; rdfs:subClassOf ; "A functional anomaly of the eye."; rdfs:label "Abnormal eye physiology" . a owl:Class; rdfs:subClassOf ; "An allergy is an immune response or reaction to substances that are usually not harmful."; rdfs:label "Allergy" . a owl:Class; rdfs:subClassOf ; "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain."; rdfs:label "Abnormal brain morphology" . a owl:Class; rdfs:subClassOf ; "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage."; rdfs:label "Pain" . a owl:Class; rdfs:subClassOf ; "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells."; rdfs:label "Non-Hodgkin lymphoma" . a owl:Class; rdfs:subClassOf ; "Increased concentration of albumin in the urine."; rdfs:label "Albuminuria" . a owl:Class; rdfs:subClassOf ; "The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol)."; rdfs:label "Moderate albuminuria" . a owl:Class; rdfs:subClassOf ; "A functional anomaly of the nervous system."; rdfs:label "Abnormal nervous system physiology" . a owl:Class; rdfs:subClassOf ; "A structural anomaly of the nervous system."; "Fyler:4135", "Fyler:4300"; rdfs:label "Abnormal nervous system morphology" . a owl:Class; rdfs:subClassOf ; "An abnormal localized widening (dilatation) of the thoracic aorta."; rdfs:label "Thoracic aortic aneurysm" . a owl:Class; rdfs:subClassOf ; "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease."; rdfs:label "Persistent human papillomavirus infection" . a owl:Class; rdfs:subClassOf ; "Any deviation of the concentration of one or more proteins in the urine."; rdfs:label "Abnormal urine protein level" . a owl:Class; rdfs:subClassOf ; "An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy."; rdfs:label "Abnormal drug response" . a owl:Class; rdfs:subClassOf ; "An unpleasant or harmful reaction resulting from treatment with a drug."; rdfs:label "Adverse drug response" . a owl:Class; rdfs:subClassOf ; "A deviation from the normal concentration of a monosaccharide in the blood circulation."; rdfs:label "Abnormal circulating monosaccharide concentration" . a owl:Class; rdfs:subClassOf , ; rdfs:label "Abnormal vascular morphology" . a owl:Class; rdfs:subClassOf ; rdfs:label "Abnormality of the digestive system" . a owl:Class; rdfs:subClassOf ; "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual."; rdfs:label "Constitutional symptom" . a owl:Class; rdfs:subClassOf ; "Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent."; rdfs:label "Left ventricular systolic dysfunction" . a owl:Class; rdfs:subClassOf ; "An anomaly of arterial function."; rdfs:label "Abnormal arterial physiology" . a owl:Class; rdfs:subClassOf ; "Any anomaly of the structure of the larynx."; rdfs:label "Abnormal larynx morphology" . a owl:Class; rdfs:subClassOf ; "Increased body weight with a body mass index of 25-29.9 kg per square meter."; rdfs:label "Overweight" . a owl:Class; rdfs:subClassOf ; "A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors."; rdfs:label "Cerebral infarct" . a owl:Class; rdfs:subClassOf ; "An anomaly in intensity, frequency, or duration of the verbal or behavioral expression of emotions, feelings, or thoughts."; rdfs:label "Abnormal affect" . a owl:Class; rdfs:subClassOf ; "An abnormality of internal states of motivation or drive that compromise, or interfere with, the ability of the person to attend to basic personal, social, or vocational activities."; "Abnormal energy", "Abnormal motivation"; rdfs:label "Abnormal volitional state" . a owl:Class; rdfs:subClassOf , ; "Abnormality of vascular function."; rdfs:label "Abnormal vascular physiology" . a owl:Class; rdfs:subClassOf ; "Any structural anomaly of the heart and blood vessels."; rdfs:label "Abnormal cardiovascular system morphology" . a owl:Class; rdfs:subClassOf ; "A high-pitched whistling sound associated with labored breathing."; rdfs:label "Wheezing" . a owl:Class; rdfs:subClassOf ; "An anomalous (adventitious) sound produced by the breathing process."; rdfs:label "Abnormal breath sound" . a owl:Class; rdfs:subClassOf ; "When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything."; rdfs:label "Addictive behavior" . a owl:Class; rdfs:subClassOf ; "An abnormality of the cardiac ventricular function."; rdfs:label "Abnormal cardiac ventricular function" . a owl:Class; rdfs:subClassOf ; "An anomaly of the electrical conduction physiology of the heart."; rdfs:label "Abnormality of cardiovascular system electrophysiology" . a owl:Class; rdfs:subClassOf ; "A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta."; rdfs:label "Abnormal morphology of the great vessels" . a owl:Class; rdfs:subClassOf ; "An abnormal enlargement or swelling in the pelvic region."; rdfs:label "Pelvic mass" . a owl:Class; rdfs:subClassOf ; "Any structural anomaly of the aortic valve leaflets."; "Fyler:1480"; rdfs:label "Abnormal aortic valve cusp morphology" . a owl:Class; rdfs:subClassOf ; "Increased susceptibility to infection, as manifested by recurrent infection, severe or invasive infection, infection occurring in an unusual anatomical location, or infection with opportunistic organisms, that is unusual for a healthy individual of the same age."; rdfs:label "Unusual infection" . a owl:Class; rdfs:subClassOf ; "A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection."; rdfs:label "Severe infection" . a owl:Class; rdfs:subClassOf ; "An abnormal level of an analyte measured in the blood."; rdfs:label "Abnormal circulating metabolite concentration" . a owl:Class; rdfs:subClassOf ; "A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain."; rdfs:label "Lacunar stroke" . a owl:Class; rdfs:subClassOf ; "An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body."; rdfs:label "Abnormality of the musculoskeletal system" . a owl:Class; rdfs:subClassOf ; "Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein)."; rdfs:label "Abnormal blood vessel morphology" . a owl:Class; rdfs:subClassOf ; "Any deviation from the normal amount of a metabolite in urine."; rdfs:label "Abnormal urine metabolite level" . a owl:Class; rdfs:subClassOf ; "Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion."; rdfs:label "Tissue ischemia" . a owl:Class; rdfs:subClassOf ; "Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones."; rdfs:label "Pelvic pain" . a owl:Class; rdfs:subClassOf ; "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean."; rdfs:label "Decreased head circumference" . a owl:Class; rdfs:subClassOf ; "Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens."; rdfs:label "Immunologic hypersensitivity" . a owl:Class; rdfs:subClassOf ; "Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering."; rdfs:label "Cognitive impairment" . a owl:Class; rdfs:subClassOf ; "Narrowing or constriction of the inner surface (lumen) of an artery."; rdfs:label "Arterial stenosis" . a owl:Class; rdfs:subClassOf ; "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle."; rdfs:label "Abnormal forebrain morphology" . a owl:Class; rdfs:subClassOf , ; "An anomaly of the cerebral blood vessels."; rdfs:label "Abnormal cerebral vascular morphology" . a owl:Class; rdfs:subClassOf ; "Self-aggression."; rdfs:label "Self-injurious behavior" . a owl:Class; rdfs:subClassOf ; "A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events."; rdfs:label "Abnormal emotional state" . a owl:Class; rdfs:subClassOf ; "A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death."; rdfs:label "Epileptic encephalopathy" . a owl:Class; rdfs:subClassOf ; "Hypersensitivity in form of an adverse immune reaction against dust mites."; rdfs:label "Dust mite allergy" . a owl:Class; rdfs:subClassOf ; "Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom."; rdfs:label "Abnormal circulating organic compound concentration" . a owl:Class; rdfs:subClassOf ; "A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions."; rdfs:label "Recurrent maladaptive behavior" . a owl:Class; rdfs:subClassOf ; "Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea."; rdfs:label "Sleep-related breathing disorders" . a owl:Class; rdfs:subClassOf ; "Suicide attempts or preparations"; rdfs:label "Suicide behaviors" . a owl:Class; rdfs:subClassOf ; "Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences."; rdfs:label "Abnormal experience of reality" . a owl:Class; rdfs:subClassOf ; "Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality."; rdfs:label "Abnormal psychotic pattern" . a owl:Class; rdfs:subClassOf ; "Increased susceptibility to bacterial infections as manifested by recurrent or severe/invasive bacterial infection, or by bacterial infection in an unusual anatomical location."; rdfs:label "Unusual bacterial infection" . a owl:Class; rdfs:subClassOf ; "Increased susceptibility to gram-positive bacterial infections as manifested by recurrent or severe/invasive infection with gram-positive organisms."; rdfs:label "Unusual gram-positive bacterial infection" . a owl:Class; rdfs:subClassOf ; "Increased susceptibility to Streptococcus infections as manifested by recurrent or severe/invasive infection with Streptococcus, or by Streptococcus infection occurring in an unusual anatomical location."; rdfs:label "Unusual Streptococcus infection" . a owl:Class; rdfs:subClassOf ; "Increased susceptibility to Streptococcus pyogenes infections as manifested by recurrent or severe/invasive infection with Streptococcus pyogenes, or by Streptococcus pyogenes infection occurring in an unusual anatomical location."; rdfs:label "Unusual Streptococcus pyogenes infection" . a owl:Class; rdfs:subClassOf ; "Increased susceptibility to Streptococcus pyogenes infections as manifested by a severe or invasive infection with Streptococcus pyogenes."; rdfs:label "Severe Streptococcus pyogenes infection" . a owl:Class; rdfs:subClassOf ; "data entity"@en; rdfs:label "data entity"@en . a owl:Class; "information content entity"@en; rdfs:label "information content entity"@en . a owl:Class; owl:equivalentClass _:3722; rdfs:subClassOf ; "curation status specification"@en; ; "The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value."@en; "Better to represent curation as a process with parts and then relate labels to that process (in IAO meeting)"@en; "PERSON:Bill Bug"@en; "GROUP:OBI:"@en, "OBI_0000266"@en; rdfs:label "curation status specification"@en . _:3722 a owl:Class; owl:oneOf _:3732 . _:3732 rdf:first ; rdf:rest _:3742 . _:3742 rdf:first ; rdf:rest _:3752 . _:3752 rdf:first ; rdf:rest _:3762 . _:3762 rdf:first ; rdf:rest _:3772 . _:3772 rdf:first ; rdf:rest _:3782 . _:3782 rdf:first ; rdf:rest _:3792 . _:3792 rdf:first ; rdf:rest _:37a2 . _:37a2 rdf:first ; rdf:rest _:37b2 . _:37b2 rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf ; "data about an ontology part"@en; "Data about an ontology part is a data item about a part of an ontology, for example a term"@en; "Person:Alan Ruttenberg"@en; rdfs:label "data about an ontology part"@en . a owl:Class; owl:equivalentClass _:37c2; rdfs:subClassOf ; "obsolescence reason specification"@en; ; "The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value."@en; "The creation of this class has been inspired in part by Werner Ceusters' paper, Applying evolutionary terminology auditing to the Gene Ontology."@en; "PERSON: Alan Ruttenberg"@en, "PERSON: Melanie Courtot"@en; rdfs:label "obsolescence reason specification"@en . _:37c2 a owl:Class; owl:oneOf _:37d2 . _:37d2 rdf:first ; rdf:rest _:37e2 . _:37e2 rdf:first ; rdf:rest _:37f2 . _:37f2 rdf:first ; rdf:rest _:3802 . _:3802 rdf:first ; rdf:rest _:3812 . _:3812 rdf:first ; rdf:rest _:3822 . _:3822 rdf:first ; rdf:rest rdf:nil . a owl:Class; owl:equivalentClass _:3832; rdfs:subClassOf ; "denotator type"@en; "The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are \"natural kinds\" and the latter arbitrary collections of entities."@en; "A denotator type indicates how a term should be interpreted from an ontological perspective."@en; "Alan Ruttenberg"@en; "Barry Smith, Werner Ceusters"@en; rdfs:label "denotator type"@en . _:3832 a owl:Class; owl:oneOf _:3842 . _:3842 rdf:first ; rdf:rest _:3852 . _:3852 rdf:first ; rdf:rest _:3862 . _:3862 rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf ; "ontology module"@en; "I have placed this under 'data about an ontology part', but this can be discussed. I think this is OK if 'part' is interpreted reflexively, as an ontology module is the whole ontology rather than part of it."@en; "ontology file"@en; "This class and it's subclasses are applied to OWL ontologies. Using an rdf:type triple will result in problems with OWL-DL. I propose that dcterms:type is instead used to connect an ontology URI with a class from this hierarchy. The class hierarchy is not disjoint, so multiple assertions can be made about a single ontology."@en; rdfs:label "ontology module"@en . a owl:Class; rdfs:subClassOf ; "base ontology module"@en; "An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies."@en; rdfs:label "base ontology module"@en; rdfs:seeAlso . a owl:Class; rdfs:subClassOf ; "editors ontology module"@en; "An ontology module that is intended to be directly edited, typically managed in source control, and typically not intended for direct consumption by end-users."@en; "source ontology module"@en; rdfs:label "editors ontology module"@en . a owl:Class; rdfs:subClassOf ; "main release ontology module"@en; "An ontology module that is intended to be the primary release product and the one consumed by the majority of tools."@en; "TODO: Add logical axioms that state that a main release ontology module is derived from (directly or indirectly) an editors module"@en; rdfs:label "main release ontology module"@en . a owl:Class; rdfs:subClassOf ; "bridge ontology module"@en; "An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module."@en; rdfs:label "bridge ontology module"@en; rdfs:seeAlso . a owl:Class; rdfs:subClassOf ; "import ontology module"@en; "A subset ontology module that is intended to be imported from another ontology."@en; "TODO: add axioms that indicate this is the output of a module extraction process."@en; "import file"@en; rdfs:label "import ontology module"@en; rdfs:seeAlso . a owl:Class; rdfs:subClassOf ; "subset ontology module"@en; "An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms."@en; "ontology slim"@en, "subset ontology"@en; rdfs:label "subset ontology module"@en; rdfs:seeAlso , . a owl:Class; rdfs:subClassOf ; "curation subset ontology module"@en; "A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation."@en; rdfs:label "curation subset ontology module"@en . a owl:Class; rdfs:subClassOf ; "analysis ontology module"@en; "An ontology module that is intended for usage in analysis or discovery applications."@en; rdfs:label "analysis subset ontology module"@en . a owl:Class; rdfs:subClassOf ; "single layer ontology module"@en; "A subset ontology that is largely comprised of a single layer or strata in an ontology class hierarchy. The purpose is typically for rolling up for visualization. The classes in the layer need not be disjoint."@en; "ribbon subset"@en; rdfs:label "single layer subset ontology module"@en . a owl:Class; rdfs:subClassOf ; "exclusion subset ontology module"@en; "A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes."@en; "antislim"@en; rdfs:label "exclusion subset ontology module"@en . a owl:Class; rdfs:subClassOf ; "external import ontology module"@en; "An imported ontology module that is derived from an external ontology. Derivation methods include the OWLAPI SLME approach."@en; "external import"@en; rdfs:label "external import ontology module"@en . a owl:Class; rdfs:subClassOf ; "species subset ontology module"@en; "A subset ontology that is crafted to either include or exclude a taxonomic grouping of species."@en; "taxon subset"@en; rdfs:label "species subset ontology module"@en; rdfs:seeAlso . a owl:Class; rdfs:subClassOf ; "reasoned ontology module"@en; "An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available."@en; rdfs:label "reasoned ontology module"@en; rdfs:seeAlso . a owl:Class; rdfs:subClassOf ; "generated ontology module"@en; "An ontology module that is automatically generated, for example via a SPARQL query or via template and a CSV."@en; "TODO: Add axioms (using PROV-O?) that indicate this is the output-of some reasoning process"@en; rdfs:label "generated ontology module"@en . a owl:Class; rdfs:subClassOf ; "template generated ontology module"@en; "An ontology module that is automatically generated from a template specification and fillers for slots in that template."@en; rdfs:label "template generated ontology module"@en; rdfs:seeAlso , , . a owl:Class; rdfs:subClassOf ; "taxonomic bridge ontology module"@en; rdfs:label "taxonomic bridge ontology module"@en . a owl:Class; rdfs:subClassOf ; "ontology module subsetted by expressivity"@en; rdfs:label "ontology module subsetted by expressivity"@en . a owl:Class; rdfs:subClassOf ; "obo basic subset ontology module"@en; """A subset ontology that is designed for basic applications to continue to make certain simplifying assumptions; many of these simplifying assumptions were based on the initial version of the Gene Ontology, and have become enshrined in many popular and useful tools such as term enrichment tools. Examples of such assumptions include: traversing the ontology graph ignoring relationship types using a naive algorithm will not lead to cycles (i.e. the ontology is a DAG); every referenced term is declared in the ontology (i.e. there are no dangling clauses). An ontology is OBO Basic if and only if it has the following characteristics: DAG Unidirectional No Dangling Clauses Fully Asserted Fully Labeled No equivalence axioms Singly labeled edges No qualifier lists No disjointness axioms No owl-axioms header No imports"""@en; rdfs:label "obo basic subset ontology module"@en; rdfs:seeAlso . a owl:Class; rdfs:subClassOf ; "ontology module subsetted by OWL profile"@en; rdfs:label "ontology module subsetted by OWL profile"@en . a owl:Class; rdfs:subClassOf ; "EL++ ontology module"@en; rdfs:label "EL++ ontology module"@en . a owl:Class; rdfs:subClassOf ; "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism."; rdfs:label "disease" . a owl:Class; rdfs:subClassOf ; "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)."; "hypoadrenalism"; rdfs:label "adrenocortical insufficiency" . a owl:Class; rdfs:subClassOf ; "A disease involving the lower respiratory tract."; rdfs:label "lower respiratory tract disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "primary bacterial infectious disease" . a owl:Class; rdfs:subClassOf , ; "A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development."; rdfs:label "orofacial cleft" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the respiratory system"; rdfs:label "respiratory system cancer" . a owl:Class; rdfs:subClassOf , ; "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor."; rdfs:label "benign reproductive system neoplasm" . a owl:Class; rdfs:subClassOf ; "A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \"oat cells\" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early."; rdfs:label "small cell carcinoma" . a owl:Class; rdfs:subClassOf ; owl:disjointWith ; "Autosomal dominant form of disease."; rdfs:label "autosomal dominant disease" . a owl:Class; rdfs:subClassOf ; "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."; rdfs:label "autosomal genetic disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the ocular adnexa."; rdfs:label "eye adnexa disorder" . a owl:Class; rdfs:subClassOf ; "An impairment of the structure or function of the blood vessels which carry blood away from the heart."; "ICD9:447.8", "ICD9:447.9"; rdfs:label "arterial disorder" . a owl:Class; rdfs:subClassOf ; "A hardening of the kidney glomerulus caused by scarring of the blood vessels."; rdfs:label "glomerulosclerosis" . a owl:Class; rdfs:subClassOf , ; "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]"; rdfs:label "synucleinopathy" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the central nervous system."; rdfs:label "autoimmune disorder of central nervous system" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the endocrine system."; rdfs:label "autoimmune disorder of endocrine system" . a owl:Class; rdfs:subClassOf ; "A hypersensitivity reaction type II disease that involves the exocrine system."; rdfs:label "autoimmune disorder of exocrine system" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system."; rdfs:label "autoimmune disorder of gastrointestinal tract" . a owl:Class; rdfs:subClassOf , ; "A hypersensitivity reaction type II disease that involves the musculoskeletal system."; rdfs:label "autoimmune disorder of musculoskeletal system" . a owl:Class; rdfs:subClassOf ; "A cardiomyopathy that is due to abnormalities in heart muscle cells."; rdfs:label "intrinsic cardiomyopathy" . a owl:Class; rdfs:subClassOf ; "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination."; rdfs:label "specific developmental disorder" . a owl:Class; rdfs:subClassOf , ; "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions."; "pervasive child development disorders", "pervasive development disorders"; rdfs:label "pervasive developmental disorder" . a owl:Class; rdfs:subClassOf ; "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system."; rdfs:label "hypersensitivity reaction disease" . a owl:Class; rdfs:subClassOf ; rdfs:label "progesterone-receptor negative breast cancer" . a owl:Class; rdfs:subClassOf ; rdfs:label "Her2-receptor negative breast cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the immune system"; rdfs:label "immune system cancer" . a owl:Class; rdfs:subClassOf , ; "A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor."; rdfs:label "benign female reproductive system neoplasm" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the musculoskeletal system"; rdfs:label "musculoskeletal system cancer" . a owl:Class; rdfs:subClassOf , ; "A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma."; rdfs:label "ovarian benign neoplasm" . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm involving the sensory system"; rdfs:label "sensory system cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the integumental system"; rdfs:label "integumentary system cancer" . a owl:Class; rdfs:subClassOf ; "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes."; rdfs:label "bipolar II disorder" . a owl:Class; rdfs:subClassOf , , ; "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age."; rdfs:label "stutter disorder" . a owl:Class; rdfs:subClassOf , ; "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors."; rdfs:label "specific language impairment" . a owl:Class; rdfs:subClassOf ; "Cessation of breathing and/or cardiac function."; rdfs:label "cardiac arrest" . a owl:Class; rdfs:subClassOf , ; "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene."; rdfs:label "epithelial-stromal TGFBI dystrophy" . a owl:Class; rdfs:subClassOf , ; "A respiratory system disease with a basis in a pathological type I hypersensitivity reaction."; rdfs:label "allergic respiratory disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the vertebral column."; "ICD9:724.9"; rdfs:label "vertebral column disorder" . a owl:Class; rdfs:subClassOf , , ; rdfs:label "abdominal obesity-metabolic syndrome" . a owl:Class; rdfs:subClassOf ; "A bone disease that results in formation or resorption abnormalities located in bone."; rdfs:label "bone remodeling disease" . a owl:Class; rdfs:subClassOf ; "A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products."; rdfs:label "bone resorption disease" . a owl:Class; rdfs:subClassOf , , ; "An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias."; rdfs:label "childhood acute lymphoblastic leukemia" . a owl:Class; rdfs:subClassOf , ; "A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma."; "lymphoma, lymphoblastic"; rdfs:label "lymphoblastic lymphoma" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma."; rdfs:label "endometrial disorder" . a owl:Class; rdfs:subClassOf ; "Infection with protozoa of the genus trypanosoma."; "Trypanosomiases"; rdfs:label "trypanosomiasis" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma."; rdfs:label "corneal disorder" . a owl:Class; rdfs:subClassOf ; "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia."; "adult chronic leukaemia"; rdfs:label "chronic leukemia" . _:3872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adult chronic leukaemia"; . a owl:Class; rdfs:subClassOf ; "Decreased vision that results from abnormal visual development."; rdfs:label "amblyopia" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the stomach."; rdfs:label "gastric cancer" . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm involving the cardia of stomach."; rdfs:label "cardia cancer" . a owl:Class; rdfs:subClassOf , ; rdfs:label "toxic diffuse goiter" . a owl:Class; rdfs:subClassOf ; "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood."; rdfs:label "kidney failure" . a owl:Class; rdfs:subClassOf ; "Hypertension that presents without an identifiable cause."; rdfs:label "essential hypertension" . a owl:Class; rdfs:subClassOf ; "A disease involving the saliva-secreting gland."; rdfs:label "salivary gland disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the lens of camera-type eye."; rdfs:label "lens disorder" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the bladder."; rdfs:label "urinary bladder cancer" . a owl:Class; rdfs:subClassOf , ; "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock."; rdfs:label "acute respiratory failure" . a owl:Class; rdfs:subClassOf ; "A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning."; rdfs:label "schizophreniform disorder" . a owl:Class; rdfs:subClassOf ; "ICD9:306.4", "ICD9:536.9"; rdfs:label "functional gastric disease" . a owl:Class; rdfs:subClassOf , ; "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome."; rdfs:label "familial hyperlipidemia" . a owl:Class; rdfs:subClassOf ; "A disease involving the bronchus."; "ICD9:519.19"; rdfs:label "bronchial disorder" . a owl:Class; rdfs:subClassOf , ; rdfs:label "vitreous syneresis" . a owl:Class; rdfs:subClassOf , , ; "The condition in which the individual does not see far distances clearly."; rdfs:label "myopia" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths."; rdfs:label "peripheral nervous system neoplasm" . a owl:Class; rdfs:subClassOf , ; "An acute or chronic inflammatory disease affecting the esophageal wall."; rdfs:label "esophagitis" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma."; rdfs:label "female reproductive organ cancer" . a owl:Class; rdfs:subClassOf ; "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood."; rdfs:label "blood coagulation disease" . a owl:Class; rdfs:subClassOf ; "A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing."; rdfs:label "acoustic neuroma" . a owl:Class; rdfs:subClassOf ; rdfs:label "ocular motility disease" . a owl:Class; rdfs:subClassOf ; "A disease that involves the rectum."; rdfs:label "rectal disorder" . a owl:Class; rdfs:subClassOf ; "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents."; "HP:0100546"; rdfs:label "carotid stenosis" . a owl:Class; rdfs:subClassOf ; "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders."; rdfs:label "dementia" . a owl:Class; rdfs:subClassOf ; "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness."; rdfs:label "proliferative diabetic retinopathy" . a owl:Class; rdfs:subClassOf ; "A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process."; rdfs:label "reading disorder" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus."; rdfs:label "lacrimal apparatus disorder" . a owl:Class; rdfs:subClassOf ; "A bipolar disorder that is characterized by at least one manic or mixed episode."; rdfs:label "bipolar I disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the endocrine pancreas."; rdfs:label "endocrine pancreas disorder" . a owl:Class; rdfs:subClassOf ; "The lack of vision. It is caused by neurological or physiological factors."; rdfs:label "blindness (disorder)" . a owl:Class; rdfs:subClassOf ; "An episode of depression lasting two or more weeks without an intervening episode of mania."; "MFOMD:0000143"; rdfs:label "major depressive disorder" . a owl:Class; rdfs:subClassOf ; "A disease that involves the orbital region."; rdfs:label "disorder of orbital region" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia."; "MFOMD:0000004"; rdfs:label "psychiatric disorder" . a owl:Class; rdfs:subClassOf ; "Pathological developments in the cecum."; rdfs:label "cecal disorder" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor."; rdfs:label "pleural disorder" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; rdfs:label "head and neck carcinoma" . a owl:Class; rdfs:subClassOf ; "A disease affects cognitive processes."; rdfs:label "cognitive disorder" . a owl:Class; rdfs:subClassOf ; "A melancholy feeling of sadness and despair."; "MFOMD:0000013"; "melancholia", "melancholias", "syndrome, depressive", "syndromes, depressive"; rdfs:label "depressive disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the integumental system."; rdfs:label "integumentary system disorder" . a owl:Class; rdfs:subClassOf , ; "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process."; rdfs:label "lymphadenitis" . a owl:Class; rdfs:subClassOf ; "A disease involving the musculoskeletal system."; rdfs:label "musculoskeletal system disorder" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma."; rdfs:label "endocrine gland neoplasm" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the peritoneum"; rdfs:label "peritoneum cancer" . a owl:Class; rdfs:subClassOf , ; "A peritoneum cancer that is located in the inside of the abdomen."; rdfs:label "peritoneal carcinoma" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue."; "tumour of exocrine pancreas"; rdfs:label "malignant exocrine pancreas neoplasm" . _:3882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumour of exocrine pancreas"; . a owl:Class; rdfs:subClassOf ; "A disease involving the renal system."; rdfs:label "urinary system disorder" . a owl:Class; rdfs:subClassOf , , ; "A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma."; rdfs:label "neuroendocrine carcinoma" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage."; rdfs:label "bone cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the reproductive organ"; rdfs:label "reproductive system cancer" . a owl:Class; rdfs:subClassOf ; "A disease involving the fallopian tube."; rdfs:label "fallopian tube disorder" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma."; rdfs:label "fallopian tube cancer" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms."; rdfs:label "rectal neoplasm" . a owl:Class; rdfs:subClassOf ; rdfs:label "degeneration of macula and posterior pole" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing."; rdfs:label "communication disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "tooth hard tissue disease" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor."; "OVT"; rdfs:label "ovarian epithelial tumor" . a owl:Class; rdfs:subClassOf , ; "A disease involving the nasal cavity."; rdfs:label "nasal cavity disorder" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant neoplasm affecting the structures of the eye."; rdfs:label "ocular cancer" . a owl:Class; rdfs:subClassOf ; "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding."; rdfs:label "coagulation protein disease" . a owl:Class; rdfs:subClassOf , ; "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders."; "Hepatitides"; rdfs:label "hepatitis" . a owl:Class; rdfs:subClassOf ; "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."; rdfs:label "syndromic disease" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma."; rdfs:label "cervix disorder" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the testis or the ovary."; rdfs:label "gonadal disorder" . a owl:Class; rdfs:subClassOf , ; "An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland."; rdfs:label "hidradenitis" . a owl:Class; rdfs:subClassOf ; "A disease involving the female reproductive system."; "gynaecological disease"; rdfs:label "female reproductive system disorder" . _:3892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gynaecological disease"; . a owl:Class; rdfs:subClassOf ; "Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent."; rdfs:label "obstructive lung disease" . a owl:Class; rdfs:subClassOf , ; "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting."; rdfs:label "gastroenteritis" . a owl:Class; rdfs:subClassOf ; "An inherited metabolic disorder that involves plasma protein metabolism malfunction."; rdfs:label "plasma protein metabolism disease" . a owl:Class; rdfs:subClassOf ; "A vascular disorder characterized by thickening and hardening of the walls of the arteries."; rdfs:label "arteriosclerosis disorder" . a owl:Class; rdfs:subClassOf ; "A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome."; rdfs:label "thrombophilia" . a owl:Class; rdfs:subClassOf , , ; "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage."; rdfs:label "retinal vascular disorder" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia."; rdfs:label "testicular disorder" . a owl:Class; rdfs:subClassOf ; "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA."; rdfs:label "nephrosis" . a owl:Class; rdfs:subClassOf , ; "Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003"; "malignant haematopoietic neoplasm"; rdfs:label "hematopoietic and lymphoid system neoplasm" . _:38a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant haematopoietic neoplasm"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas."; rdfs:label "larynx cancer" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms."; "ICD9:577.9"; "disease, pancreatic", "diseases, pancreatic", "pancreatic disease"; rdfs:label "pancreas disorder" . a owl:Class; rdfs:subClassOf , ; "Primary or metastatic malignant neoplasm involving the kidney."; rdfs:label "kidney cancer" . a owl:Class; rdfs:subClassOf , ; "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis."; rdfs:label "dermatitis" . a owl:Class; rdfs:subClassOf ; "A disease involving the auditory system."; rdfs:label "auditory system disorder" . a owl:Class; rdfs:subClassOf ; "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia."; rdfs:label "cerebellar disorder" . a owl:Class; rdfs:subClassOf ; "An infection that is caused by protozoans."; rdfs:label "protozoa infectious disease" . a owl:Class; rdfs:subClassOf , ; "A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis)."; rdfs:label "idiopathic interstitial pneumonia" . a owl:Class; rdfs:subClassOf ; "A disease involving the nose."; rdfs:label "nasal disorder" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation."; rdfs:label "endometrial carcinoma" . a owl:Class; rdfs:subClassOf ; "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath."; rdfs:label "bronchiolitis" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells."; rdfs:label "endometrioid tumor" . a owl:Class; rdfs:subClassOf ; "A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ."; rdfs:label "intraductal breast neoplasm" . a owl:Class; rdfs:subClassOf ; "The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed."; rdfs:label "substance abuse" . a owl:Class; rdfs:subClassOf , ; "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria."; rdfs:label "acute kidney injury" . a owl:Class; rdfs:subClassOf ; "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)."; rdfs:label "substance-related disorder" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma."; rdfs:label "hepatobiliary neoplasm" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma."; rdfs:label "hepatobiliary disorder" . a owl:Class; rdfs:subClassOf , , ; "A primary or metastatic malignant neoplasm involving any part of the digestive system."; rdfs:label "digestive system cancer" . a owl:Class; rdfs:subClassOf ; "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."; rdfs:label "inherited lipid metabolism disorder" . a owl:Class; rdfs:subClassOf , ; "A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated."; "CSCC"; rdfs:label "skin squamous cell carcinoma" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma."; "skin"; rdfs:label "skin neoplasm" . a owl:Class; rdfs:subClassOf ; "A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example."; rdfs:label "squamous cell neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease involving the spinal cord."; rdfs:label "spinal cord disorder" . a owl:Class; rdfs:subClassOf , , ; "A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported."; "SCHW", "neurolemmoma"; rdfs:label "schwannoma" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor."; rdfs:label "nerve sheath neoplasm" . a owl:Class; rdfs:subClassOf , ; "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others."; rdfs:label "demyelinating disease" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma."; rdfs:label "tracheal disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the central nervous system."; rdfs:label "central nervous system disorder" . a owl:Class; rdfs:subClassOf ; "Inflammation of the bone."; rdfs:label "bone inflammation disease" . a owl:Class; rdfs:subClassOf ; "A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma."; rdfs:label "mesenchymal cell neoplasm" . a owl:Class; rdfs:subClassOf ; "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support."; rdfs:label "periodontal disorder" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma."; rdfs:label "uterine disorder" . a owl:Class; rdfs:subClassOf , , ; "A carcinoma that arises from epithelial cells of the zone of skin"; rdfs:label "skin carcinoma" . a owl:Class; rdfs:subClassOf ; "A disease involving the breast."; rdfs:label "breast disorder" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris."; rdfs:label "uveal cancer" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma."; "disorder of uveal tract", "uveal diseases"; rdfs:label "uveal disorder" . a owl:Class; rdfs:subClassOf , ; "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries."; rdfs:label "cerebral infarction" . a owl:Class; rdfs:subClassOf , , ; "An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma."; "primary cancer of liver", "primary tumor of the liver", "primary tumour of the liver"; rdfs:label "liver cancer" . _:38b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary tumour of the liver"; . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the central nervous system"; rdfs:label "central nervous system cancer" . a owl:Class; rdfs:subClassOf , ; "Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix."; rdfs:label "uterine cancer" . a owl:Class; rdfs:subClassOf , ; "An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma."; rdfs:label "ovarian adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "A disease involving the adrenal cortex."; rdfs:label "adrenal cortex disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the cardial valve."; rdfs:label "heart valve disorder" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the zone of skin"; rdfs:label "skin cancer" . a owl:Class; rdfs:subClassOf ; "A metabolic disorder characterized by abnormal blood glucose levels."; rdfs:label "glucose metabolism disease" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003"; rdfs:label "cerebellar neoplasm" . a owl:Class; rdfs:subClassOf ; "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements."; "mixed Mullerian tumor", "mixed Mullerian tumour", "mixed tumor, Mullerian"; rdfs:label "carcinosarcoma" . _:38c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "mixed Mullerian tumour"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the cervix."; rdfs:label "cervical cancer" . a owl:Class; rdfs:subClassOf , ; "A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis."; rdfs:label "autoimmune disorder of the nervous system" . a owl:Class; rdfs:subClassOf ; "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."; rdfs:label "macular degeneration" . a owl:Class; rdfs:subClassOf , ; "An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge."; rdfs:label "rhinitis" . a owl:Class; rdfs:subClassOf ; "A disease involving the prostate gland."; rdfs:label "prostate disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the male reproductive system."; rdfs:label "male reproductive system disorder" . a owl:Class; rdfs:subClassOf ; "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis."; rdfs:label "anterior horn disorder" . a owl:Class; rdfs:subClassOf , ; "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics."; "AIS"; rdfs:label "adenocarcinoma in situ" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction."; "esophagogastric adenocarcinoma"; rdfs:label "gastroesophageal junction adenocarcinoma" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the gall bladder"; rdfs:label "gallbladder carcinoma" . a owl:Class; rdfs:subClassOf , , ; "Any disease of the bone marrow."; rdfs:label "bone marrow disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the thyroid gland."; rdfs:label "thyroid gland disorder" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm affecting the tissues of the thorax."; rdfs:label "thoracic cancer" . a owl:Class; rdfs:subClassOf , ; "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath."; rdfs:label "pleural mesothelioma" . a owl:Class; rdfs:subClassOf ; "Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. These can include dyssomnias such as circadian rhythm disorders, hypersomnia, and sleep apnea and parasomnias such as bruxism and rapid eye movement sleep disorder."; "Subwakefullness syndrome", "Subwakefullness syndromes", "Tachypneas, sleep-related neurogenic", "disorder, sleep", "disorder, sleep wake", "disorders, sleep", "disorders, sleep wake", "long sleeper syndrome", "long sleeper syndromes", "neurogenic Tachypneas, sleep-related", "neurogenic tachypnea, sleep-related", "phenotype, short sleep", "phenotypes, short sleep", "short sleep phenotype", "short sleep phenotypes", "short sleeper syndrome", "short sleeper syndromes", "sleep disorder", "sleep disorders", "sleep phenotypes, short", "sleep related neurogenic tachypnea", "sleep-related neurogenic Tachypneas", "sleep-related neurogenic tachypnea", "sleeper syndrome, long", "sleeper syndrome, short", "sleeper syndromes, long", "sleeper syndromes, short", "syndrome, Subwakefullness", "syndrome, long sleeper", "syndrome, short sleeper", "syndromes, Subwakefullness", "syndromes, long sleeper", "syndromes, short sleeper", "tachypnea, sleep-related neurogenic", "wake disorder, sleep", "wake disorders, sleep"; rdfs:label "sleep-wake disorder" . a owl:Class; rdfs:subClassOf ; "Pathological processes in the colon region of the large intestine (intestine, large)."; rdfs:label "colonic disorder" . a owl:Class; rdfs:subClassOf ; "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected."; rdfs:label "strabismus" . a owl:Class; rdfs:subClassOf ; "A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003"; rdfs:label "precursor lymphoblastic lymphoma/leukemia" . a owl:Class; rdfs:subClassOf ; "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves."; rdfs:label "cranial nerve neuropathy" . a owl:Class; rdfs:subClassOf , ; "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer."; "HBOC syndrome", "HBOC syndromes", "syndrome, HBOC", "syndromes, HBOC"; rdfs:label "hereditary breast ovarian cancer syndrome" . a owl:Class; rdfs:subClassOf ; "A disease involving the peripheral nervous system."; rdfs:label "peripheral nervous system disorder" . a owl:Class; rdfs:subClassOf , ; "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood."; rdfs:label "pediatric lymphoma" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas."; rdfs:label "esophageal disorder" . a owl:Class; rdfs:subClassOf ; "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord."; "severe or complete loss of motor function in the lower extremities and lower portions of the trunk"; rdfs:label "paraplegia" . a owl:Class; rdfs:subClassOf ; "A disease involving the mitral valve."; "ICD9:394.9"; rdfs:label "mitral valve disorder" . a owl:Class; rdfs:subClassOf ; "A disorder in which the immune system is unable to mount an adequate immune response."; "antibody deficiency syndrome", "antibody deficiency syndromes", "deficiency syndrome, antibody", "deficiency syndrome, immunologic", "deficiency syndrome, immunological", "deficiency syndromes, antibody", "deficiency syndromes, immunologic", "deficiency syndromes, immunological", "immunologic deficiency syndrome", "immunological deficiency syndrome", "immunological deficiency syndromes", "syndrome, antibody deficiency", "syndrome, immunologic deficiency", "syndrome, immunological deficiency", "syndromes, antibody deficiency", "syndromes, immunologic deficiency", "syndromes, immunological deficiency"; rdfs:label "inborn error of immunity" . a owl:Class; rdfs:subClassOf ; "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective."; rdfs:label "T-cell immunodeficiency" . a owl:Class; rdfs:subClassOf , ; "An acute or chronic inflammatory process affecting the bronchi."; rdfs:label "bronchitis" . a owl:Class; rdfs:subClassOf , , ; "A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements."; "malignant mixed Müllerian tumour of the ovary", "ovarian carcinosarcoma/malignant mixed mesodermal tumor", "ovarian carcinosarcoma/malignant mixed mesodermal tumour"; rdfs:label "ovarian carcinosarcoma" . _:38d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed Müllerian tumour of the ovary"; . _:38e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ovarian carcinosarcoma/malignant mixed mesodermal tumour"; . a owl:Class; rdfs:subClassOf , , ; "A disease involving the aortic valve."; rdfs:label "aortic valve disorder" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells."; rdfs:label "ovarian endometrial cancer" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the cardia of stomach."; rdfs:label "gastric cardia carcinoma" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from glandular epithelial cells of the cardia of stomach."; rdfs:label "gastric cardia adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."; rdfs:label "hereditary disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the connective tissue."; rdfs:label "connective tissue disorder" . a owl:Class; rdfs:subClassOf ; "An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity."; rdfs:label "overnutrition" . a owl:Class; rdfs:subClassOf , ; "The inflammation of a vertebra."; rdfs:label "spondylitis" . a owl:Class; rdfs:subClassOf ; "A disease involving the muscle tissue."; rdfs:label "muscle tissue disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the basal ganglia."; "disorder of basal ganglia"; rdfs:label "basal ganglia disorder" . a owl:Class; rdfs:subClassOf ; "A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma."; rdfs:label "breast intraductal proliferative lesion" . a owl:Class; rdfs:subClassOf , ; "A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes."; "lymphoma, B-cell"; rdfs:label "B-cell neoplasm" . a owl:Class; rdfs:subClassOf , ; "Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis."; rdfs:label "thyroiditis" . a owl:Class; rdfs:subClassOf ; "A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade."; rdfs:label "superficial urinary bladder carcinoma" . a owl:Class; rdfs:subClassOf ; "A disease involving the stomach."; rdfs:label "stomach disorder" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the digestive system."; rdfs:label "digestive system disorder" . a owl:Class; rdfs:subClassOf , ; "An acute or chronic leukemia that occurs during childhood."; rdfs:label "childhood leukemia" . a owl:Class; rdfs:subClassOf ; "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min."; rdfs:label "end stage renal failure" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma."; rdfs:label "laryngeal disorder" . a owl:Class; rdfs:subClassOf ; "Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor."; rdfs:label "hyperthyroidism" . a owl:Class; rdfs:subClassOf ; "Degeneration of the retina."; rdfs:label "retinal degeneration" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the oropharynx."; rdfs:label "oropharynx cancer" . a owl:Class; rdfs:subClassOf , ; "A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia."; rdfs:label "myeloid leukemia" . a owl:Class; rdfs:subClassOf , , ; "A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion."; rdfs:label "in situ carcinoma" . a owl:Class; rdfs:subClassOf , ; "A in situ carcinoma that involves the breast."; rdfs:label "breast carcinoma in situ" . a owl:Class; rdfs:subClassOf ; "A parasitic infection characterized by the infestation with worms, mainly in the intestine."; rdfs:label "helminthiasis" . a owl:Class; rdfs:subClassOf , ; "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus."; rdfs:label "lupus erythematosus" . a owl:Class; rdfs:subClassOf ; "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect."; rdfs:label "learning disability" . a owl:Class; rdfs:subClassOf ; "A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders."; rdfs:label "speech disorder" . a owl:Class; rdfs:subClassOf ; "A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect."; rdfs:label "language disorder" . a owl:Class; rdfs:subClassOf , ; "Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations."; rdfs:label "acute myocardial infarction" . a owl:Class; rdfs:subClassOf , ; "A asthma with a basis in a pathological type I hypersensitivity reaction."; rdfs:label "allergic asthma" . a owl:Class; rdfs:subClassOf ; "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis."; rdfs:label "fatty liver disease" . a owl:Class; rdfs:subClassOf , ; "A disease involving leukocytes."; rdfs:label "leukocyte disorder" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma."; rdfs:label "nasopharyngeal disorder" . a owl:Class; rdfs:subClassOf ; "Vaginal bleeding preceding the 20th week of gestation."; rdfs:label "placental abruption" . a owl:Class; rdfs:subClassOf ; "A cataract with no obvious cause occurring in persons over 50 years old."; rdfs:label "senile cataract" . a owl:Class; rdfs:subClassOf ; "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing."; rdfs:label "pulmonary emphysema" . a owl:Class; rdfs:subClassOf ; "A disease involving the vitreous humor."; rdfs:label "vitreous disorder" . a owl:Class; rdfs:subClassOf ; "A disease involving the upper respiratory tract."; rdfs:label "upper respiratory tract disorder" . a owl:Class; rdfs:subClassOf ; "A neurodegenerative disease that involves the eye."; rdfs:label "eye degenerative disorder" . a owl:Class; rdfs:subClassOf ; "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)"; rdfs:label "hyperopia" . a owl:Class; rdfs:subClassOf ; "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia."; rdfs:label "refractive error" . a owl:Class; rdfs:subClassOf ; "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia."; rdfs:label "mitral valve prolapse" . a owl:Class; rdfs:subClassOf ; "Any disorder of the lymph nodes."; rdfs:label "lymph node disorder" . a owl:Class; rdfs:subClassOf ; "The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence."; rdfs:label "substance dependence" . a owl:Class; rdfs:subClassOf , ; "A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)"; rdfs:label "B-cell acute lymphoblastic leukemia" . a owl:Class; rdfs:subClassOf , , , ; "B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades."; "leukemia, chronic LYMPHOCYTIC", "leukemia, lymphocytic, chronic"; rdfs:label "B-cell chronic lymphocytic leukemia" . a owl:Class; rdfs:subClassOf ; "A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)."; "mature B-cell neoplasms"; rdfs:label "neoplasm of mature B-cells" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the stomach."; rdfs:label "gastric carcinoma" . a owl:Class; rdfs:subClassOf , ; "A heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes."; "Hodgkin's sarcoma", "lymphoma, Hodgkin's"; rdfs:label "Hodgkins lymphoma" . a owl:Class; rdfs:subClassOf ; "A carcinoma that arises from the prostate gland and has spread to other anatomic sites."; rdfs:label "metastatic prostate carcinoma" . a owl:Class; rdfs:subClassOf ; "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance."; rdfs:label "plasma cell neoplasm" . a owl:Class; rdfs:subClassOf , , , , ; "Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia."; rdfs:label "acute lymphoblastic leukemia" . a owl:Class; rdfs:subClassOf , ; owl:disjointWith ; "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma."; "ADNOS"; rdfs:label "adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract."; rdfs:label "adenoma" . a owl:Class; rdfs:subClassOf , ; "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language."; rdfs:label "Alzheimer disease" . a owl:Class; rdfs:subClassOf , ; "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord."; rdfs:label "amyotrophic lateral sclerosis" . a owl:Class; rdfs:subClassOf ; "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety."; rdfs:label "asthma" . a owl:Class; rdfs:subClassOf , ; "A common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life."; rdfs:label "atopic eczema" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)"; rdfs:label "atrial fibrillation" . a owl:Class; rdfs:subClassOf , ; "Inflammation of the pancreas."; rdfs:label "pancreatitis" . a owl:Class; rdfs:subClassOf ; "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression."; "MAFD"; rdfs:label "bipolar disorder" . _:38f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAFD"; . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the urinary bladder"; rdfs:label "urinary bladder carcinoma" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003"; rdfs:label "urinary bladder neoplasm" . a owl:Class; rdfs:subClassOf , , ; "A carcinoma that arises from glandular epithelial cells of the breast"; rdfs:label "breast adenocarcinoma" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the breast"; rdfs:label "breast carcinoma" . a owl:Class; rdfs:subClassOf ; owl:disjointWith ; "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas."; "MT"; rdfs:label "cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas."; rdfs:label "carcinoma" . a owl:Class; rdfs:subClassOf , ; "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive."; rdfs:label "cardiomyopathy" . a owl:Class; rdfs:subClassOf ; "A disease involving the cardiovascular system."; "circulatory system disease"; rdfs:label "cardiovascular disorder" . a owl:Class; rdfs:subClassOf , ; "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema."; rdfs:label "chronic obstructive pulmonary disease" . a owl:Class; rdfs:subClassOf ; "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus."; rdfs:label "chronic pancreatitis" . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid."; rdfs:label "clear cell adenocarcinoma" . a owl:Class; rdfs:subClassOf , , ; "A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common."; "clear-cell metastatic renal cell carcinoma", "hypernephroma"; rdfs:label "clear cell renal carcinoma" . _:3902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "hypernephroma"; . a owl:Class; rdfs:subClassOf , ; "The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma."; rdfs:label "colorectal adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales."; rdfs:label "congestive heart failure" . a owl:Class; rdfs:subClassOf , ; "Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)"; rdfs:label "coronary artery disorder" . a owl:Class; rdfs:subClassOf ; "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement."; rdfs:label "Crohn disease" . a owl:Class; rdfs:subClassOf , , ; "A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma."; rdfs:label "cutaneous melanoma" . a owl:Class; rdfs:subClassOf , ; "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization."; rdfs:label "diabetes mellitus" . a owl:Class; rdfs:subClassOf , ; "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis."; rdfs:label "diabetic kidney disease" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the small or large intestine."; "disease, intestinal", "diseases, intestinal"; rdfs:label "intestinal disorder" . a owl:Class; rdfs:subClassOf ; "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure."; "familial dilated cardiomyopathy", "idiopathic dilation cardiomyopathy"; rdfs:label "dilated cardiomyopathy" . a owl:Class; rdfs:subClassOf , , , ; "A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS."; "breast ductal carcinoma in situ"; rdfs:label "ductal breast carcinoma in situ" . a owl:Class; rdfs:subClassOf ; "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions."; rdfs:label "epilepsy" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor."; rdfs:label "esophageal adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age."; rdfs:label "fetal growth restriction" . a owl:Class; rdfs:subClassOf ; "A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern."; rdfs:label "fibromatosis" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from glandular epithelial cells of the stomach"; "STAD"; rdfs:label "gastric adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "A disease involving the reproductive system."; rdfs:label "reproductive system disorder" . a owl:Class; rdfs:subClassOf ; "A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor."; "germ cells tumors", "germ cells tumours", "malignant tumour of the germ cell"; rdfs:label "germ cell tumor" . _:3912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "germ cells tumours"; . _:3922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant tumour of the germ cell"; . a owl:Class; rdfs:subClassOf ; "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor."; rdfs:label "glaucoma" . a owl:Class; rdfs:subClassOf ; "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more."; rdfs:label "hypertensive disorder" . a owl:Class; rdfs:subClassOf ; "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract."; rdfs:label "hypertrophic cardiomyopathy" . a owl:Class; rdfs:subClassOf ; "A disorder resulting from an abnormality in the immune system."; rdfs:label "immune system disorder" . a owl:Class; rdfs:subClassOf , ; "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two)."; rdfs:label "irritable bowel syndrome" . a owl:Class; rdfs:subClassOf ; "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation."; rdfs:label "ischemic disease" . a owl:Class; rdfs:subClassOf ; "A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years."; "leukaemia NOS"; rdfs:label "leukemia" . _:3932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "leukaemia NOS"; . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor."; rdfs:label "lung adenocarcinoma" . a owl:Class; rdfs:subClassOf , ; "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas."; "MLYM"; rdfs:label "lymphoma" . a owl:Class; rdfs:subClassOf ; "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos."; rdfs:label "mesothelioma" . a owl:Class; rdfs:subClassOf ; "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process."; rdfs:label "metabolic disease" . a owl:Class; rdfs:subClassOf ; "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis."; rdfs:label "myocardial infarction" . a owl:Class; rdfs:subClassOf ; "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias."; "ONCOTREE:OTHER"; rdfs:label "neoplasm" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."; rdfs:label "nervous system disorder" . a owl:Class; rdfs:subClassOf , ; "Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system."; "NB"; rdfs:label "neuroblastoma" . a owl:Class; rdfs:subClassOf , ; "An acute or chronic inflammatory process that affects the tissues that surround and support the teeth."; "periodontosis"; rdfs:label "periodontitis" . a owl:Class; rdfs:subClassOf ; "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations."; rdfs:label "polyp" . a owl:Class; rdfs:subClassOf , ; "Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia."; "toxaemia of pregnancy"; rdfs:label "preeclampsia" . _:3942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "toxaemia of pregnancy"; . a owl:Class; rdfs:subClassOf , , ; "An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp."; rdfs:label "psoriasis" . a owl:Class; rdfs:subClassOf , ; "A disease that has its basis in the disruption of mental process."; rdfs:label "mental disorder" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from glandular epithelial cells of the kidney"; "kidney adenocarcinoma", "renal cell adenocarcinoma"; rdfs:label "renal cell carcinoma" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."; rdfs:label "respiratory system disorder" . a owl:Class; rdfs:subClassOf ; "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma."; "tumour of soft tissue and skeleton"; rdfs:label "sarcoma" . _:3952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumour of soft tissue and skeleton"; . a owl:Class; rdfs:subClassOf ; "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality."; "SCZD"; rdfs:label "schizophrenia" . _:3962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCZD"; . a owl:Class; rdfs:subClassOf ; "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs."; rdfs:label "skin disorder" . a owl:Class; rdfs:subClassOf , ; "A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis."; "spondylarthropathy"; rdfs:label "spondyloarthropathy" . a owl:Class; rdfs:subClassOf , ; "A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma."; rdfs:label "squamous cell carcinoma" . a owl:Class; rdfs:subClassOf ; "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event."; "HP:0001297"; rdfs:label "stroke disorder" . a owl:Class; rdfs:subClassOf , ; "A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension."; rdfs:label "systemic sclerosis" . a owl:Class; rdfs:subClassOf ; "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage."; rdfs:label "ulcerative colitis" . a owl:Class; rdfs:subClassOf ; "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain."; rdfs:label "melanoma" . a owl:Class; rdfs:subClassOf ; "Any disease caused by a virus."; "infections, Viruses"; rdfs:label "viral infectious disease" . a owl:Class; rdfs:subClassOf , ; "An infection caused by the human immunodeficiency virus."; rdfs:label "HIV infectious disease" . a owl:Class; rdfs:subClassOf , , ; "A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive."; rdfs:label "malignant pleural mesothelioma" . a owl:Class; rdfs:subClassOf ; "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections."; "infections, bacterial"; rdfs:label "bacterial infectious disease" . a owl:Class; rdfs:subClassOf , ; "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)"; rdfs:label "cataract" . a owl:Class; rdfs:subClassOf , , , ; "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet."; rdfs:label "celiac disease" . a owl:Class; rdfs:subClassOf ; "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs."; rdfs:label "endometriosis" . a owl:Class; rdfs:subClassOf ; "A successful invasion of a host by an organism that uses the host for food and shelter."; "disease, parasitic", "diseases, parasitic"; rdfs:label "parasitic infectious disease" . a owl:Class; rdfs:subClassOf , , ; "Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired."; rdfs:label "malaria" . a owl:Class; rdfs:subClassOf ; "Any condition related to a disturbance between proper intake and utilization of nourishment."; rdfs:label "nutritional disorder" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the lung"; rdfs:label "lung carcinoma" . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002"; rdfs:label "ovarian carcinoma" . a owl:Class; rdfs:subClassOf ; "Infections with bacteria of the genus pseudomonas."; rdfs:label "Pseudomonas infection" . a owl:Class; rdfs:subClassOf ; "Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history."; rdfs:label "sporadic amyotrophic lateral sclerosis" . a owl:Class; rdfs:subClassOf ; "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term."; rdfs:label "post-traumatic stress disorder" . a owl:Class; rdfs:subClassOf , , ; "A chronic condition characterized by minimal or absent production of insulin by the pancreas."; rdfs:label "type 1 diabetes mellitus" . a owl:Class; rdfs:subClassOf ; "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity."; rdfs:label "type 2 diabetes mellitus" . a owl:Class; rdfs:subClassOf ; "Increased pressure within the pulmonary circulation due to lung or heart disorder."; "MedDRA:10037400"; rdfs:label "pulmonary hypertension" . a owl:Class; rdfs:subClassOf , ; "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."; rdfs:label "age-related macular degeneration" . a owl:Class; rdfs:subClassOf ; "A disease involving the endocrine system."; rdfs:label "endocrine system disorder" . a owl:Class; rdfs:subClassOf , ; "A disease involving the liver."; rdfs:label "liver disorder" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy."; rdfs:label "cirrhosis of liver" . a owl:Class; rdfs:subClassOf ; "A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms."; rdfs:label "lymphoid neoplasm" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the prostate gland."; rdfs:label "prostate carcinoma" . a owl:Class; rdfs:subClassOf ; "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta."; rdfs:label "aortic aneurysm" . a owl:Class; rdfs:subClassOf ; "An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth."; rdfs:label "human papilloma virus infection" . a owl:Class; rdfs:subClassOf ; "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites."; "benign tumour", "benign unclassifiable tumour"; rdfs:label "benign neoplasm" . _:3972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign tumour"; . _:3982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "benign unclassifiable tumour"; . a owl:Class; rdfs:subClassOf ; "A neoplasm arising from immature B and T cells"; rdfs:label "neoplasm of immature B and T cells" . a owl:Class; rdfs:subClassOf ; "Proliferation of myeloid cells originating from a primitive stem cell."; rdfs:label "myeloid neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease involving the skeletal system."; rdfs:label "skeletal system disorder" . a owl:Class; rdfs:subClassOf ; "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity."; rdfs:label "osteoarthritis" . a owl:Class; rdfs:subClassOf , ; "A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression."; rdfs:label "Parkinson disease" . a owl:Class; rdfs:subClassOf , ; "An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor."; rdfs:label "pancreatic ductal adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance."; rdfs:label "cocaine dependence" . a owl:Class; rdfs:subClassOf ; "A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain."; rdfs:label "metastatic melanoma" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from epithelial cells of the exocrine pancreas"; "pancreatic carcinoma, familial"; rdfs:label "exocrine pancreatic carcinoma" . a owl:Class; rdfs:subClassOf , ; "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade."; rdfs:label "prostate intraepithelial neoplasia" . a owl:Class; rdfs:subClassOf ; "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms."; rdfs:label "atopic IgE-mediated allergic disorder" . a owl:Class; rdfs:subClassOf ; "An antiphospholipid syndrome that occurs as an isolated disorder."; rdfs:label "primary antiphospholipid syndrome" . a owl:Class; rdfs:subClassOf , ; "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms."; rdfs:label "renal carcinoma" . a owl:Class; rdfs:subClassOf , , ; "An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia."; "malignant ovarian serous tumour", "serous ovarian cancer"; rdfs:label "ovarian serous adenocarcinoma" . _:3992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant ovarian serous tumour"; . a owl:Class; rdfs:subClassOf ; "A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites."; rdfs:label "rhabdomyosarcoma" . a owl:Class; rdfs:subClassOf , ; "A carcinoma involving a uterus."; rdfs:label "uterine carcinoma" . a owl:Class; rdfs:subClassOf , ; "An infectious disease caused by bacteria causing sepsis."; rdfs:label "bacterial infectious disease with sepsis" . a owl:Class; rdfs:subClassOf ; "A viral infection caused by the hepatitis C virus."; rdfs:label "hepatitis C virus infection" . a owl:Class; rdfs:subClassOf ; "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy."; rdfs:label "non-small cell lung carcinoma" . a owl:Class; rdfs:subClassOf ; "A disease involving the kidney."; rdfs:label "kidney disorder" . a owl:Class; rdfs:subClassOf , ; "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."; rdfs:label "peripheral neuropathy" . a owl:Class; rdfs:subClassOf , ; "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness."; rdfs:label "pneumonia" . a owl:Class; rdfs:subClassOf ; "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction."; rdfs:label "heart failure" . a owl:Class; rdfs:subClassOf ; "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors."; rdfs:label "autism spectrum disorder" . a owl:Class; rdfs:subClassOf ; "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior."; rdfs:label "autism" . a owl:Class; rdfs:subClassOf , ; "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit."; rdfs:label "transient ischemic attack" . a owl:Class; rdfs:subClassOf , , ; "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type."; rdfs:label "inflammatory bowel disease" . a owl:Class; rdfs:subClassOf , ; "A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness."; rdfs:label "diabetic retinopathy" . a owl:Class; rdfs:subClassOf ; "A disease involving the heart and/or pericardium."; rdfs:label "heart disorder" . a owl:Class; rdfs:subClassOf , ; "A disease involving the carotid artery segment."; rdfs:label "carotid artery disorder" . a owl:Class; rdfs:subClassOf ; owl:disjointWith ; "An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures."; rdfs:label "allergic disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the lung."; rdfs:label "lung disorder" . a owl:Class; rdfs:subClassOf ; "The decay of a tooth, in which it becomes softened, discolored, and/or porous."; rdfs:label "dental caries" . a owl:Class; rdfs:subClassOf , , ; "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity."; rdfs:label "migraine disorder" . a owl:Class; rdfs:subClassOf ; "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma."; rdfs:label "serous adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung."; rdfs:label "pulmonary embolism" . a owl:Class; rdfs:subClassOf ; "A disease involving the gall bladder."; rdfs:label "gallbladder disorder" . a owl:Class; rdfs:subClassOf , ; "Any disease or disorder of the retina."; rdfs:label "retinal disorder" . a owl:Class; rdfs:subClassOf , , ; "Inflammation of the colon."; rdfs:label "colitis" . a owl:Class; rdfs:subClassOf ; "Any disorder affecting blood flow through the veins or arteries outside of the heart."; rdfs:label "peripheral vascular disease" . a owl:Class; rdfs:subClassOf , ; "A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep."; "apnea syndrome, sleep", "apnea syndromes, sleep", "apnea, sleep", "apneas, sleep", "breathing, sleep-disordered", "hypersomnia with periodic respiration", "hypopnea, sleep", "hypopneas, sleep", "mixed central and obstructive sleep apnea", "mixed sleep Apneas", "mixed sleep apnea", "sleep apnea, mixed", "sleep apnea, mixed central and obstructive", "sleep apneas, mixed", "sleep hypopnea", "sleep hypopneas"; rdfs:label "sleep apnea syndrome" . a owl:Class; rdfs:subClassOf , ; "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)."; rdfs:label "osteoporosis" . a owl:Class; rdfs:subClassOf , ; "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage."; rdfs:label "brain ischemia" . a owl:Class; rdfs:subClassOf ; "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months."; rdfs:label "chronic kidney disease" . a owl:Class; rdfs:subClassOf , , , ; "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers."; rdfs:label "multiple sclerosis" . a owl:Class; rdfs:subClassOf ; "Drug dependence - replaced the term \"drug addiction\" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug."; rdfs:label "drug dependence" . a owl:Class; rdfs:subClassOf , , , ; "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine."; rdfs:label "ankylosing spondylitis" . a owl:Class; rdfs:subClassOf ; "A disease characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen."; "ICD9:440.8"; rdfs:label "atherosclerosis" . a owl:Class; rdfs:subClassOf ; "Breaks in bones."; rdfs:label "bone fracture" . a owl:Class; rdfs:subClassOf ; "Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side."; rdfs:label "hip fracture" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."; rdfs:label "eye disorder" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms."; rdfs:label "colorectal neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."; rdfs:label "myopathy" . a owl:Class; rdfs:subClassOf ; "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage."; rdfs:label "open-angle glaucoma" . a owl:Class; rdfs:subClassOf , ; "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas."; rdfs:label "skin basal cell carcinoma" . a owl:Class; rdfs:subClassOf , ; "A viral infection caused by the hepatitis B virus."; rdfs:label "hepatitis B virus infection" . a owl:Class; rdfs:subClassOf ; "A laboratory test result indicating elevated triglyceride concentration in the blood."; rdfs:label "hypertriglyceridemia" . a owl:Class; rdfs:subClassOf ; "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs."; rdfs:label "abdominal aortic aneurysm" . a owl:Class; rdfs:subClassOf ; "A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea."; rdfs:label "anorexia nervosa" . a owl:Class; rdfs:subClassOf ; "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment."; rdfs:label "drug-induced liver injury" . a owl:Class; rdfs:subClassOf , ; "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs)."; rdfs:label "eosinophilic esophagitis" . a owl:Class; rdfs:subClassOf , , ; "Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery."; "Basedow disease", "Graves' hyperthyroidism", "parry disease"; rdfs:label "Graves disease" . a owl:Class; rdfs:subClassOf ; "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central."; "hearing impairment"; rdfs:label "hearing loss disorder" . a owl:Class; rdfs:subClassOf ; "Physical and psychological dependence on the drug heroin."; rdfs:label "heroin dependence" . a owl:Class; rdfs:subClassOf ; "A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement."; rdfs:label "carcinoid tumor" . a owl:Class; rdfs:subClassOf ; "A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature."; rdfs:label "mood disorder" . a owl:Class; rdfs:subClassOf , ; "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow)."; rdfs:label "bone marrow neoplasm" . a owl:Class; rdfs:subClassOf , , , ; "A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma."; rdfs:label "nasopharyngeal neoplasm" . a owl:Class; rdfs:subClassOf , ; "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction."; rdfs:label "nephrotic syndrome" . a owl:Class; rdfs:subClassOf ; "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears."; "Psychoneuroses", "disorder, neurotic", "disorders, neurotic", "neuroses"; rdfs:label "neurotic disorder" . a owl:Class; rdfs:subClassOf ; "Diseases of bones."; rdfs:label "bone disorder" . a owl:Class; rdfs:subClassOf ; "A seizure caused by a localized disorder."; rdfs:label "focal epilepsy" . a owl:Class; rdfs:subClassOf ; "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."; "vasculopathy"; rdfs:label "vascular disorder" . a owl:Class; rdfs:subClassOf , ; "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest."; rdfs:label "peripheral arterial disease" . a owl:Class; rdfs:subClassOf ; "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs."; rdfs:label "restless legs syndrome" . a owl:Class; rdfs:subClassOf ; "A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals."; rdfs:label "gout" . a owl:Class; rdfs:subClassOf ; "Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis."; rdfs:label "brain infarction" . a owl:Class; rdfs:subClassOf ; "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."; rdfs:label "movement disorder" . a owl:Class; rdfs:subClassOf ; "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing."; rdfs:label "goiter" . a owl:Class; rdfs:subClassOf ; "Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)"; rdfs:label "upper aerodigestive tract neoplasm" . a owl:Class; rdfs:subClassOf ; "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream."; rdfs:label "venous thromboembolism" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms."; rdfs:label "colonic neoplasm" . a owl:Class; rdfs:subClassOf , ; "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias."; rdfs:label "lymphoid leukemia" . a owl:Class; rdfs:subClassOf ; "Asthma that starts in childhood."; rdfs:label "childhood onset asthma" . a owl:Class; owl:equivalentClass _:39a2; rdfs:subClassOf , ; "Carbohydrate intolerance first diagnosed during pregnancy."; rdfs:label "gestational diabetes" . _:39a2 a owl:Class; owl:intersectionOf _:39b2 . _:39b2 rdf:first ; rdf:rest _:39c2 . _:39c2 rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the gall bladder"; rdfs:label "gallbladder cancer" . a owl:Class; rdfs:subClassOf ; "Schizophrenia which does not respond to commonly used treatments."; rdfs:label "treatment-refractory schizophrenia" . a owl:Class; rdfs:subClassOf ; "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)"; rdfs:label "osteoarthritis, knee" . a owl:Class; rdfs:subClassOf , ; "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood."; rdfs:label "familial hypercholesterolemia" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma."; "paediatric testicular neoplasm"; rdfs:label "testicular cancer" . _:39d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "paediatric testicular neoplasm"; . a owl:Class; rdfs:subClassOf , ; "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake."; rdfs:label "eating disorder" . a owl:Class; rdfs:subClassOf , ; "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma."; "pulmonary neuroendocrine tumour"; rdfs:label "lung neuroendocrine neoplasm" . _:39e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pulmonary neuroendocrine tumour"; . a owl:Class; rdfs:subClassOf , ; "A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death."; rdfs:label "human African trypanosomiasis" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors."; rdfs:label "primitive neuroectodermal tumor" . a owl:Class; rdfs:subClassOf ; "Any condition affecting the anatomic and functional characteristics of the temporomandibular joint."; rdfs:label "temporomandibular joint disorder" . a owl:Class; rdfs:subClassOf , ; "An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis."; rdfs:label "colorectal adenoma" . a owl:Class; rdfs:subClassOf , ; "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities."; rdfs:label "psychotic disorder" . a owl:Class; rdfs:subClassOf ; "A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms."; rdfs:label "schizoaffective disorder" . a owl:Class; rdfs:subClassOf ; "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension."; rdfs:label "dyslexia" . a owl:Class; rdfs:subClassOf , , ; "An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)."; rdfs:label "triple-negative breast carcinoma" . a owl:Class; rdfs:subClassOf ; "A disease involving the adrenal gland."; rdfs:label "adrenal gland disorder" . a owl:Class; rdfs:subClassOf ; "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development."; rdfs:label "developmental disorder of mental health" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas."; rdfs:label "oral cavity cancer" . a owl:Class; rdfs:subClassOf , , , , ; "A primary or metastatic malignant neoplasm that affects the pharynx."; rdfs:label "pharynx cancer" . a owl:Class; rdfs:subClassOf ; "Disorders related or resulting from abuse or mis-use of opioids."; rdfs:label "opiate dependence" . a owl:Class; rdfs:subClassOf , , ; "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction."; "acute coronary syndromes", "coronary syndrome, acute", "coronary syndromes, acute", "syndrome, acute coronary", "syndromes, acute coronary"; rdfs:label "acute coronary syndrome" . a owl:Class; rdfs:subClassOf ; "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy."; rdfs:label "renal cell adenocarcinoma" . a owl:Class; rdfs:subClassOf ; owl:disjointWith ; "A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact."; rdfs:label "infectious disease" . a owl:Class; rdfs:subClassOf , ; "A disorder that is caused by pathologic changes in the ocular vasculature."; rdfs:label "ocular vascular disorder" . a owl:Class; rdfs:subClassOf ; "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."; "disease, rheumatic", "diseases, rheumatic", "enthesopathies", "enthesopathy", "rheumatism"; rdfs:label "rheumatic disorder" . a owl:Class; rdfs:subClassOf , ; "A disease involving the ovary."; rdfs:label "ovarian disorder" . a owl:Class; rdfs:subClassOf ; "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function."; rdfs:label "neurodegenerative disease" . a owl:Class; rdfs:subClassOf ; "A disease affecting the brain or part of the brain."; rdfs:label "brain disorder" . a owl:Class; rdfs:subClassOf ; "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)"; rdfs:label "aortic disorder" . a owl:Class; rdfs:subClassOf ; "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003"; "EMBT"; rdfs:label "embryonal neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease involving the hematopoietic system."; "GTR:AN1320635"; "haematological disorders and malignancies", "hematological disorders and malignancies"; rdfs:label "hematologic disorder" . _:39f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haematological disorders and malignancies"; . a owl:Class; rdfs:subClassOf , ; "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration."; rdfs:label "tauopathy" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."; "CRC"; rdfs:label "colorectal cancer" . _:3a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRC"; . a owl:Class; rdfs:subClassOf , , ; "An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain."; rdfs:label "arthritic joint disease" . a owl:Class; rdfs:subClassOf ; "A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures."; rdfs:label "idiopathic generalized epilepsy" . a owl:Class; rdfs:subClassOf , ; "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third."; rdfs:label "esophageal squamous cell carcinoma" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; rdfs:label "head and neck neoplasm" . a owl:Class; rdfs:subClassOf ; "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist."; rdfs:label "breast ductal adenocarcinoma" . a owl:Class; rdfs:subClassOf ; "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma."; rdfs:label "tubular adenocarcinoma" . a owl:Class; rdfs:subClassOf , ; "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath."; rdfs:label "chronic bronchitis" . a owl:Class; rdfs:subClassOf ; "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety."; rdfs:label "anxiety disorder" . a owl:Class; rdfs:subClassOf , ; "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis."; "autoimmune thyroiditides", "autoimmune thyroiditis", "lymphocytic thyroiditides", "lymphocytic thyroiditis", "lymphomatous thyroiditides", "lymphomatous thyroiditis", "thyroiditides, autoimmune", "thyroiditides, lymphocytic", "thyroiditides, lymphomatous", "thyroiditis, lymphocytic", "thyroiditis, lymphomatous"; rdfs:label "autoimmune thyroid disease" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas."; rdfs:label "epithelial neoplasm" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."; rdfs:label "head and neck cancer" . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm involving the male breast."; "breast cancer in men", "breast cancer, male"; rdfs:label "male breast carcinoma" . a owl:Class; rdfs:subClassOf , , ; "Acute inflammation of the vermiform appendix."; rdfs:label "appendicitis" . a owl:Class; rdfs:subClassOf ; "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting."; rdfs:label "coccidiosis" . a owl:Class; rdfs:subClassOf ; "Virus diseases caused by coronaviridae."; rdfs:label "Coronaviridae infectious disease" . a owl:Class; rdfs:subClassOf ; "Virus diseases caused by the hepadnaviridae."; rdfs:label "Hepadnaviridae infectious disease" . a owl:Class; rdfs:subClassOf , ; "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system."; rdfs:label "influenza" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the intestine"; rdfs:label "intestinal cancer" . a owl:Class; rdfs:subClassOf , , ; "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)."; "Islet of Langerhans tumor", "Islet of Langerhans tumour"; rdfs:label "pancreatic neuroendocrine neoplasm" . _:3a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Islet of Langerhans tumour"; . a owl:Class; rdfs:subClassOf ; "A disease involving the lymphatic part of lymphoid system."; rdfs:label "lymphatic system disorder" . a owl:Class; rdfs:subClassOf , ; "An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present."; rdfs:label "Lynch syndrome" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma."; rdfs:label "male reproductive organ cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung."; "malignant mixed tumors", "malignant mixed tumours", "mixed tumors, malignant", "tumor, malignant mixed", "tumors, malignant mixed"; rdfs:label "malignant mixed neoplasm" . _:3a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "malignant mixed tumours"; . a owl:Class; rdfs:subClassOf , ; "Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms."; rdfs:label "mixed connective tissue disease" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the nervous system."; rdfs:label "nervous system cancer" . a owl:Class; rdfs:subClassOf ; "Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections."; rdfs:label "Nidovirales infectious disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the parotid gland."; rdfs:label "parotid disorder" . a owl:Class; rdfs:subClassOf , ; "A disease involving the placenta."; "disease, placenta", "disease, placental", "diseases, placenta", "diseases, placental", "disorder, placenta", "disorders, placenta", "placental disease", "placental diseases"; rdfs:label "placenta disorder" . a owl:Class; rdfs:subClassOf ; "A type of clinical depression that occurs after childbirth."; "depression, post-Natal", "depression, post-partum", "depression, postnatal", "post Natal depression", "post partum depression", "post-Natal depression", "post-partum depression"; rdfs:label "postpartum depression" . a owl:Class; rdfs:subClassOf , , ; "An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis."; rdfs:label "viral hepatitis" . a owl:Class; rdfs:subClassOf ; "Autosomal recessive form of disease."; rdfs:label "autosomal recessive disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the urinary bladder."; rdfs:label "urinary bladder disorder" . a owl:Class; rdfs:subClassOf , ; "A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis."; "lung carcinoid"; rdfs:label "lung carcinoid tumor" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from glandular epithelial cells of the pancreas"; "PAAD"; rdfs:label "pancreatic adenocarcinoma" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system."; rdfs:label "reproductive system neoplasm" . a owl:Class; rdfs:subClassOf , ; "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix."; rdfs:label "Wilms tumor" . a owl:Class; rdfs:subClassOf ; "A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the \"false lumen\" created by the new space within the wall of the artery."; rdfs:label "cervical artery dissection" . a owl:Class; rdfs:subClassOf ; "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma."; rdfs:label "breast carcinoma by gene expression profile" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia."; rdfs:label "central nervous system neoplasm" . a owl:Class; rdfs:subClassOf , ; "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation."; rdfs:label "digestive system adenoma" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma."; rdfs:label "digestive system carcinoma" . a owl:Class; rdfs:subClassOf , ; "A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts."; rdfs:label "fibroblastic neoplasm" . a owl:Class; rdfs:subClassOf ; "A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)."; rdfs:label "HER2 positive breast carcinoma" . a owl:Class; rdfs:subClassOf ; "A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000)."; rdfs:label "hyperplastic polyp" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women."; "BRCA"; rdfs:label "invasive breast carcinoma" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos."; "MESOM"; rdfs:label "malignant mesothelioma" . _:3a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESOM"; . a owl:Class; rdfs:subClassOf , , ; "A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site."; rdfs:label "pleural cancer" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas."; rdfs:label "malignant urinary system neoplasm" . a owl:Class; rdfs:subClassOf ; "A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells."; rdfs:label "neuroblastic tumor" . a owl:Class; rdfs:subClassOf , ; "A melanoma that arises from the structures of the eye or ocular adnexa."; "OM"; rdfs:label "ocular melanoma" . a owl:Class; rdfs:subClassOf ; "A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males."; rdfs:label "palmar fibromatosis" . a owl:Class; rdfs:subClassOf ; "A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."; "SOFT_TISSUE"; rdfs:label "soft tissue neoplasm" . a owl:Class; rdfs:subClassOf ; "A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries."; rdfs:label "transitional cell carcinoma" . a owl:Class; rdfs:subClassOf , ; "A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma."; "uterine carcinosarcoma/uterine malignant mixed mullerian tumor", "uterine carcinosarcoma/uterine malignant mixed mullerian tumour"; rdfs:label "uterine carcinosarcoma" . _:3a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "uterine carcinosarcoma/uterine malignant mixed mullerian tumour"; . a owl:Class; rdfs:subClassOf , ; "A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B."; rdfs:label "uveal melanoma" . a owl:Class; rdfs:subClassOf ; "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)"; rdfs:label "palsy" . a owl:Class; rdfs:subClassOf , ; "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain."; rdfs:label "cerebral palsy" . a owl:Class; rdfs:subClassOf , ; "Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition."; "ALI", "Stiff lung", "acute lung injury", "increased-permeability pulmonary edema", "increased-permeability pulmonary oedema", "non-cardiogenic pulmonary edema", "non-cardiogenic pulmonary oedema"; rdfs:label "acute respiratory distress syndrome" . _:3a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "increased-permeability pulmonary oedema"; . _:3a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "non-cardiogenic pulmonary oedema"; . a owl:Class; rdfs:subClassOf ; "A subtype of breast cancer that is estrogen-receptor positive"; rdfs:label "estrogen-receptor positive breast cancer" . a owl:Class; rdfs:subClassOf ; "A subtype of breast cancer that is estrogen-receptor negative"; rdfs:label "estrogen-receptor negative breast cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor)."; rdfs:label "childhood malignant neoplasm" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma."; rdfs:label "rectal cancer" . a owl:Class; rdfs:subClassOf ; "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident."; rdfs:label "hidradenitis suppurativa" . a owl:Class; rdfs:subClassOf ; "A disease involving the sweat gland."; rdfs:label "sweat gland disorder" . a owl:Class; rdfs:subClassOf ; "A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction."; rdfs:label "diabetic neuropathy" . a owl:Class; rdfs:subClassOf , ; "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages."; rdfs:label "alcoholic liver cirrhosis" . a owl:Class; rdfs:subClassOf ; "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens."; rdfs:label "CNS demyelinating autoimmune disease" . a owl:Class; rdfs:subClassOf , ; "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation."; rdfs:label "fibromuscular dysplasia" . a owl:Class; rdfs:subClassOf ; "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine."; rdfs:label "gastroparesis" . a owl:Class; rdfs:subClassOf ; "Any disorder of the joints."; rdfs:label "arthropathy" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003"; rdfs:label "mesothelial neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease involving the mouth."; rdfs:label "mouth disorder" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma."; rdfs:label "peritoneal neoplasm" . a owl:Class; rdfs:subClassOf ; "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes."; rdfs:label "prediabetes syndrome" . a owl:Class; rdfs:subClassOf ; "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium."; rdfs:label "retinal drusen" . a owl:Class; rdfs:subClassOf ; "A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia."; rdfs:label "retinopathy of prematurity" . a owl:Class; rdfs:subClassOf ; "Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying."; rdfs:label "systolic heart failure" . a owl:Class; rdfs:subClassOf , ; "A disease involving the calcareous tooth."; rdfs:label "tooth disorder" . a owl:Class; rdfs:subClassOf , ; "Physical and psychological dependence on alcohol."; rdfs:label "alcohol dependence" . a owl:Class; rdfs:subClassOf , ; "Cessation of air flow during sleep due to upper airway obstruction."; "Apneas, obstructive sleep", "OSAHS", "apnea, obstructive sleep", "obstructive sleep Apneas", "sleep Apneas, obstructive", "sleep apnea hypopnea syndrome", "sleep apnea syndrome, obstructive", "syndrome, obstructive sleep apnea", "syndrome, sleep apnea, obstructive", "syndrome, upper airway resistance, sleep apnea", "upper airway resistance sleep apnea syndrome"; rdfs:label "obstructive sleep apnea syndrome" . a owl:Class; rdfs:subClassOf ; "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)."; rdfs:label "autoimmune disease" . a owl:Class; rdfs:subClassOf , , , ; "A rare form of malignant mature B-cell non-Hodgkin lymphoma."; "BL"; rdfs:label "Burkitt lymphoma" . _:3a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BL"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males."; rdfs:label "breast cancer" . a owl:Class; rdfs:subClassOf , ; "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation."; rdfs:label "hepatocellular carcinoma" . a owl:Class; rdfs:subClassOf ; "Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart."; rdfs:label "cardiac rhythm disease" . a owl:Class; rdfs:subClassOf , ; "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease."; "dementia, Lewy body"; rdfs:label "Lewy body dementia" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the esophagus."; rdfs:label "esophageal cancer" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type."; "ADHD"; rdfs:label "attention deficit-hyperactivity disorder" . _:3a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADHD"; . a owl:Class; rdfs:subClassOf ; "RCC", "renal cell carcinoma, nonpapillary"; rdfs:label "nonpapillary renal cell carcinoma" . _:3a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RCC"; . a owl:Class; rdfs:subClassOf , ; "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific."; rdfs:label "systemic lupus erythematosus" . a owl:Class; rdfs:subClassOf , ; "A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity."; "CPNET", "MDB", "infratentorial primitive neuroectodermal tumour", "localised primitive neuroectodermal tumour"; rdfs:label "medulloblastoma" . _:3aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPNET"; . _:3ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDB"; . _:3ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infratentorial primitive neuroectodermal tumour"; . _:3ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "localised primitive neuroectodermal tumour"; . a owl:Class; rdfs:subClassOf ; "A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission."; rdfs:label "transient myeloproliferative syndrome" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."; rdfs:label "ovarian cancer" . a owl:Class; rdfs:subClassOf , ; "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins."; "CAON"; rdfs:label "nephrolithiasis" . _:3ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAON"; . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas."; rdfs:label "prostate cancer" . a owl:Class; rdfs:subClassOf , , ; "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor."; rdfs:label "rheumatoid arthritis" . a owl:Class; rdfs:subClassOf , , ; "Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure."; "SCLC1"; rdfs:label "small cell lung carcinoma" . _:3af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCLC1"; . a owl:Class; rdfs:subClassOf , , ; "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity."; rdfs:label "polycystic ovary syndrome" . a owl:Class; rdfs:subClassOf ; "Physical and psychological dependence on nicotine."; "tobacco use disorder"; rdfs:label "nicotine dependence" . a owl:Class; rdfs:subClassOf ; "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects."; rdfs:label "Down syndrome" . a owl:Class; rdfs:subClassOf , , ; "A malignant neoplasm involving the lung."; rdfs:label "lung cancer" . a owl:Class; rdfs:subClassOf , ; "Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations."; "fibrocystic disease of the pancreas"; rdfs:label "cystic fibrosis" . a owl:Class; rdfs:subClassOf , , ; "A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)"; "myeloma - multiple"; rdfs:label "plasma cell myeloma" . a owl:Class; rdfs:subClassOf ; "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs."; rdfs:label "osteosarcoma" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm involving the pancreas."; "pancreatic tumour"; rdfs:label "malignant pancreatic neoplasm" . _:3b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pancreatic tumour"; . a owl:Class; rdfs:subClassOf , , , ; "An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain"; rdfs:label "Sjogren syndrome" . a owl:Class; rdfs:subClassOf , ; "A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor."; "Male germ cell tumour", "endodermal sinus tumour", "nonseminomatous germ cell tumours"; rdfs:label "testicular germ cell tumor" . _:3b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Male germ cell tumour"; . _:3b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "endodermal sinus tumour"; . _:3b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nonseminomatous germ cell tumours"; . a owl:Class; rdfs:subClassOf , ; "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands."; "squamous cell carcinoma, head and neck"; rdfs:label "head and neck squamous cell carcinoma" . a owl:Class; rdfs:subClassOf , ; "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)."; "stem cell leukaemia", "stem cell leukaemia (disease)", "stem cell leukemia (disease)"; rdfs:label "acute leukemia" . _:3b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "stem cell leukaemia"; . _:3b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "stem cell leukaemia (disease)"; . a owl:Class; rdfs:subClassOf , ; "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction."; rdfs:label "cerebrovascular disorder" . a owl:Class; rdfs:subClassOf ; "A disorder involving an excessive amount of body fat."; rdfs:label "obesity disorder" . a owl:Class; rdfs:subClassOf , ; "SPCH1", "articulatory apraxia", "das", "developmental apraxia of speech", "developmental verbal apraxia", "speech-language disorder 1", "speech-language disorder-1"; rdfs:label "childhood apraxia of speech" . _:3b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPCH1"; . a owl:Class; rdfs:subClassOf , ; "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur."; "HPA 1 recognition polymorphism, beta-globin-related", "HPA1", "Haemoglobin S disease", "HbS disease", "Hemoglobin S disease"; rdfs:label "sickle cell disease" . _:3b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPA1"; . _:3b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Haemoglobin S disease"; . a owl:Class; rdfs:subClassOf , ; "Any disease of a degenerative nature that affects the intervertebral disk."; rdfs:label "intervertebral disk degenerative disorder" . a owl:Class; rdfs:subClassOf , , ; "Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases)."; rdfs:label "juvenile idiopathic arthritis" . a owl:Class; rdfs:subClassOf ; "AOMS1", "abdominal obesity metabolic syndrome"; rdfs:label "metabolic syndrome X" . _:3b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AOMS1"; . a owl:Class; rdfs:subClassOf , ; "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life."; rdfs:label "allergic rhinitis" . a owl:Class; rdfs:subClassOf , ; "Joint inflammation associated with psoriasis."; rdfs:label "psoriatic arthritis" . a owl:Class; rdfs:subClassOf , ; "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment."; "ACD", "CDA", "combined granular-lattice corneal dystrophies", "corneal dystrophy Avellino type", "corneal dystrophy, AVELLINO type", "granular and lattice corneal dystrophies", "granular-lattice (Avellino) corneal dystrophy"; rdfs:label "granular corneal dystrophy type II" . _:3ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACD"; . _:3bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CDA"; . a owl:Class; rdfs:subClassOf , ; "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)."; rdfs:label "endometrial cancer" . a owl:Class; rdfs:subClassOf ; "SSD"; rdfs:label "speech-sound disorder" . _:3bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SSD"; . a owl:Class; rdfs:subClassOf , ; "A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood."; rdfs:label "AIDS" . a owl:Class; rdfs:subClassOf , ; "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation."; rdfs:label "preterm premature rupture of the membranes" . a owl:Class; rdfs:subClassOf , ; "A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated."; rdfs:label "Kawasaki disease" . a owl:Class; rdfs:subClassOf ; "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene."; rdfs:label "inflammatory bowel disease 28" . a owl:Class; rdfs:subClassOf ; "Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver."; "NAFLD1", "fatty liver disease, nonalcoholic, susceptibility to, 1"; rdfs:label "metabolic dysfunction-associated steatotic liver disease" . _:3bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAFLD1"; . a owl:Class; rdfs:subClassOf , , ; "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis."; "A1AT deficiency", "A1ATD", "AATD", "Alpha 1 antitrypsin deficiency", "Alpha-1 antitrypsin deficiency"; rdfs:label "alpha 1-antitrypsin deficiency" . _:3be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A1ATD"; . a owl:Class; rdfs:subClassOf ; "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)"; "adenocarcinoma of oesophagus"; rdfs:label "Barrett esophagus" . _:3bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "adenocarcinoma of oesophagus"; . a owl:Class; rdfs:subClassOf , ; "An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen."; "disease, homologous wasting", "disease, runt", "graft-VS-host diseases", "graft-versus-host disease, susceptibility to", "graft-versus-host diseases", "homologous wasting disease"; rdfs:label "graft versus host disease" . a owl:Class; rdfs:subClassOf ; "A cerebrovascular disorder characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma."; rdfs:label "intracerebral hemorrhage" . a owl:Class; rdfs:subClassOf ; "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary."; rdfs:label "primary adrenal insufficiency" . a owl:Class; rdfs:subClassOf ; "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones."; "adrenal gland hypofunction", "hypoadrenocorticism familial"; rdfs:label "chronic primary adrenal insufficiency" . a owl:Class; rdfs:subClassOf , ; "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old."; "early-onset, autosomal dominant Alzheimer disease"; rdfs:label "early-onset autosomal dominant Alzheimer disease" . a owl:Class; rdfs:subClassOf ; "A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes."; rdfs:label "intestinal polyposis syndrome" . a owl:Class; rdfs:subClassOf , ; "An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic."; rdfs:label "schistosomiasis" . a owl:Class; rdfs:subClassOf , , ; "The inherited predisposition toward getting a tumor."; rdfs:label "hereditary neoplastic syndrome" . a owl:Class; rdfs:subClassOf , , , ; "A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma."; rdfs:label "nasopharyngeal carcinoma" . a owl:Class; rdfs:subClassOf , ; "Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea."; "Cryptosporidioses"; rdfs:label "cryptosporidiosis" . a owl:Class; rdfs:subClassOf , , ; "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances."; "KC", "noninflammatory corneal thining"; rdfs:label "keratoconus" . a owl:Class; rdfs:subClassOf , ; "An instance of dementia that is caused by an inherited genomic modification in an individual."; rdfs:label "hereditary dementia" . a owl:Class; rdfs:subClassOf , ; "A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background, affecting the palms and soles, sometimes also the lateral aspects of hands and feet. The lesions are usually painful. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking."; rdfs:label "palmoplantar pustulosis" . a owl:Class; rdfs:subClassOf ; "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme."; rdfs:label "acute myeloid leukemia by FAB classification" . a owl:Class; rdfs:subClassOf ; "A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement."; rdfs:label "primary peritoneal carcinoma" . a owl:Class; rdfs:subClassOf ; rdfs:label "myeloid hemopathy" . a owl:Class; rdfs:subClassOf ; rdfs:label "lymphoid hemopathy" . a owl:Class; rdfs:subClassOf , ; "The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003"; rdfs:label "B-cell non-Hodgkin lymphoma" . a owl:Class; rdfs:subClassOf ; "A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003"; rdfs:label "T-cell non-Hodgkin lymphoma" . a owl:Class; rdfs:subClassOf ; "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."; rdfs:label "interstitial lung disease" . a owl:Class; rdfs:subClassOf ; "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern."; rdfs:label "superficial Fibromatosis" . a owl:Class; rdfs:subClassOf , ; "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate."; rdfs:label "cleft lip/palate" . a owl:Class; rdfs:subClassOf ; "A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion."; rdfs:label "borderline epithelial tumor of ovary" . a owl:Class; rdfs:subClassOf ; "An instance of skeletal muscle disease that is acquired during the lifetime of the individual."; rdfs:label "acquired skeletal muscle disease" . a owl:Class; rdfs:subClassOf ; "Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)"; rdfs:label "specific learning disability" . a owl:Class; rdfs:subClassOf ; rdfs:label "specific language disorder" . a owl:Class; rdfs:subClassOf , , , ; "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma."; "AIH", "autoimmune chronic hepatitis"; rdfs:label "autoimmune hepatitis" . a owl:Class; rdfs:subClassOf ; "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features."; "mild form of FAP"; rdfs:label "attenuated familial adenomatous polyposis" . a owl:Class; rdfs:subClassOf , , , ; "A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."; "autosomal recessive early-onset IBD", "autosomal recessive early-onset inflammatory bowel disease"; rdfs:label "IL10-related early-onset inflammatory bowel disease" . a owl:Class; rdfs:subClassOf ; "A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)"; "meningothelial cell tumour", "primary meningeal tumour"; rdfs:label "meningioma" . _:3c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "meningothelial cell tumour"; . _:3c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary meningeal tumour"; . a owl:Class; rdfs:subClassOf , ; rdfs:label "overlapping connective tissue disease" . a owl:Class; rdfs:subClassOf , ; rdfs:label "low-grade astrocytoma" . a owl:Class; rdfs:subClassOf ; "Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported."; rdfs:label "pilocytic astrocytoma" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions."; "meningothelial tumor", "meningothelial tumour"; rdfs:label "tumor of meninges" . _:3c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "meningothelial tumour"; . a owl:Class; rdfs:subClassOf ; rdfs:label "tumor of cranial and spinal nerves" . a owl:Class; rdfs:subClassOf ; rdfs:label "benign peripheral nerve sheath tumor" . a owl:Class; rdfs:subClassOf ; "Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes."; rdfs:label "hypnic headache" . a owl:Class; rdfs:subClassOf , ; "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy."; "MSTD", "frontotemporal lobe dementia (FLDEM)"; rdfs:label "frontotemporal dementia" . a owl:Class; rdfs:subClassOf , ; rdfs:label "virus associated tumor" . a owl:Class; rdfs:subClassOf ; rdfs:label "Epstein-Barr virus-related tumor" . a owl:Class; rdfs:subClassOf ; "A range of lymphoproliferative diseases characterized by uncontrolled proliferation of B cells, T cells, or NK cells infected with Epstein-Barr virus. Depending on host immunity and viral factors, viral persistence in host cells can induce lymphoproliferation with a diverse clinical spectrum ranging from simple reactive hyperplasia to aggressive lymphoma/leukemia with unique clinical and pathological presentations."; rdfs:label "Epstein-Barr virus-associated lymphoproliferative disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "Epstein-Barr virus-associated carcinoma" . a owl:Class; rdfs:subClassOf ; "B cell lymphoma, indolent", "indolent B cell lymphoma"; rdfs:label "indolent B-cell non-Hodgkin lymphoma" . a owl:Class; rdfs:subClassOf ; rdfs:label "aggressive B-cell non-Hodgkin lymphoma" . a owl:Class; rdfs:subClassOf , ; "A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use."; "Kochs disease", "TB"; rdfs:label "tuberculosis" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones."; rdfs:label "soft tissue sarcoma" . a owl:Class; rdfs:subClassOf ; "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value."; rdfs:label "corneal dystrophy" . a owl:Class; rdfs:subClassOf ; "Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production."; rdfs:label "lateral sclerosis" . a owl:Class; rdfs:subClassOf ; rdfs:label "gonadal germ cell tumor" . a owl:Class; rdfs:subClassOf , , ; "An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor."; rdfs:label "malignant epithelial tumor of ovary" . a owl:Class; rdfs:subClassOf ; rdfs:label "eosinophilic gastrointestinal disease" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma."; "hepatocellular carcinoma plus intrahepatic cholangiocarcinoma"; rdfs:label "carcinoma of liver and intrahepatic biliary tract" . a owl:Class; rdfs:subClassOf , ; "A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age."; rdfs:label "hereditary nonpolyposis colon cancer" . a owl:Class; rdfs:subClassOf ; "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency."; rdfs:label "hemophilia" . a owl:Class; rdfs:subClassOf ; "A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation."; rdfs:label "progressive muscular atrophy" . a owl:Class; rdfs:subClassOf ; "Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis."; "acute myeloblastic leukaemia type 7", "acute myeloblastic leukemia type 7", "megakaryocytic leukaemia"; rdfs:label "acute megakaryoblastic leukemia" . _:3c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute myeloblastic leukaemia type 7"; . _:3c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "megakaryocytic leukaemia"; . a owl:Class; rdfs:subClassOf , ; "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections."; "acute non lymphoblastic leukaemia", "acute non lymphoblastic leukemia", "leukemia, acute myeloid"; rdfs:label "acute myeloid leukemia" . _:3c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "acute non lymphoblastic leukaemia"; . a owl:Class; rdfs:subClassOf , ; "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)"; rdfs:label "myelodysplastic syndrome" . a owl:Class; rdfs:subClassOf , ; "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease."; rdfs:label "vasculitis" . a owl:Class; rdfs:subClassOf , ; "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common."; rdfs:label "diffuse large B-cell lymphoma" . a owl:Class; rdfs:subClassOf , ; "Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved."; "lymphoma, follicular"; rdfs:label "follicular lymphoma" . a owl:Class; rdfs:subClassOf ; "Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage."; rdfs:label "non-Hodgkin lymphoma" . a owl:Class; rdfs:subClassOf , ; "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver."; rdfs:label "kidney Wilms tumor" . a owl:Class; rdfs:subClassOf ; "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"; "autosomal chromosome disorder", "autosomal chromosome disorders", "chromosome abnormality disorder", "chromosome abnormality disorders", "chromosome disorder, autosomal", "chromosome disorders, autosomal", "disorder, chromosome abnormality"; rdfs:label "chromosomal disorder" . a owl:Class; rdfs:subClassOf , ; "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule."; rdfs:label "inherited hemoglobinopathy" . a owl:Class; rdfs:subClassOf , ; "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."; rdfs:label "inborn errors of metabolism" . a owl:Class; rdfs:subClassOf ; "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions."; rdfs:label "neuromuscular disease" . a owl:Class; rdfs:subClassOf , ; "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage."; "primary bone cancer", "primary malignant neoplasm of bone", "rare bone tumour"; rdfs:label "bone neoplasm" . _:3c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "rare bone tumour"; . a owl:Class; rdfs:subClassOf , , ; "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."; "FSP", "familial spastic paraparesis"; rdfs:label "hereditary spastic paraplegia" . a owl:Class; rdfs:subClassOf , ; "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)."; rdfs:label "carcinoma of esophagus" . a owl:Class; rdfs:subClassOf , ; "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."; rdfs:label "inherited retinal dystrophy" . a owl:Class; rdfs:subClassOf ; "A skin disease that involves the epidermis."; rdfs:label "epidermal disease" . a owl:Class; rdfs:subClassOf ; "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs."; rdfs:label "sarcoidosis" . a owl:Class; rdfs:subClassOf , ; "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)."; rdfs:label "scleroderma" . a owl:Class; rdfs:subClassOf , , ; "An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement."; "blastic plasmacytoid dendritic cell"; rdfs:label "CD4+/CD56+ hematodermic neoplasm" . a owl:Class; rdfs:subClassOf ; "Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion)."; rdfs:label "neuroendocrine neoplasm" . a owl:Class; rdfs:subClassOf , ; "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness."; "exudative vitreoretinopathy, familial"; rdfs:label "exudative vitreoretinopathy" . a owl:Class; rdfs:subClassOf ; "An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases."; rdfs:label "undifferentiated connective tissue syndrome" . a owl:Class; rdfs:subClassOf , , ; "Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi."; rdfs:label "Lyme disease" . a owl:Class; rdfs:subClassOf ; "A disease involving the renal glomerulus."; "GTR:AN0966176"; "glomerulopathies"; rdfs:label "glomerular disorder" . a owl:Class; rdfs:subClassOf , ; "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."; rdfs:label "autoinflammatory syndrome" . a owl:Class; rdfs:subClassOf ; "A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma."; rdfs:label "astrocytoma (excluding glioblastoma)" . a owl:Class; rdfs:subClassOf ; "Chromosomal disorder in which the chromosomal anomaly involves an autosome."; rdfs:label "autosomal anomaly" . a owl:Class; rdfs:subClassOf , , ; "A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)"; "chronic myeloproliferative disorders", "myeloproliferative neoplasms"; rdfs:label "myeloproliferative neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease involving the skeletal muscle tissue."; rdfs:label "skeletal muscle disorder" . a owl:Class; rdfs:subClassOf , , ; "An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies."; "idiopathic inflammatory myopathy, familial"; rdfs:label "acquired idiopathic inflammatory myopathy" . a owl:Class; rdfs:subClassOf , ; "Neurological disease involving the motor neuron."; rdfs:label "motor neuron disorder" . a owl:Class; rdfs:subClassOf ; "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy."; rdfs:label "stromal corneal dystrophy" . a owl:Class; rdfs:subClassOf , ; "HP:0007773"; rdfs:label "inherited vitreoretinopathy" . a owl:Class; rdfs:subClassOf , ; "HP:0007964"; rdfs:label "vitreoretinal degeneration" . a owl:Class; rdfs:subClassOf , ; "An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision."; rdfs:label "uveitis" . a owl:Class; rdfs:subClassOf ; "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions."; "genetic predisposition", "genetic predispositions", "genetic susceptibilities", "genetic susceptibility", "predisposition, genetic", "predispositions, genetic", "susceptibilities, genetic", "susceptibility, genetic"; rdfs:label "inherited disease susceptibility" . a owl:Class; rdfs:subClassOf ; "Inflammation of the mucous membranes."; rdfs:label "mucositis" . a owl:Class; rdfs:subClassOf ; "Infection due to organisms from the genus Mycobacteria."; rdfs:label "mycobacterial infectious disease" . a owl:Class; rdfs:subClassOf , ; "A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma."; rdfs:label "disorder of pharynx" . a owl:Class; rdfs:subClassOf ; "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."; rdfs:label "malabsorption syndrome" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract."; rdfs:label "respiratory tract neoplasm" . a owl:Class; rdfs:subClassOf ; rdfs:label "high grade malignant neoplasm" . a owl:Class; rdfs:subClassOf ; "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)."; "HP:0000407"; rdfs:label "sensorineural hearing loss disorder" . a owl:Class; rdfs:subClassOf ; "Disease having a short and relatively severe course."; "ICD9:799.89"; rdfs:label "acute disease" . a owl:Class; rdfs:subClassOf ; "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19."; rdfs:label "Orthocoronavirinae infectious disease" . a owl:Class; rdfs:subClassOf ; "A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas."; "neoplasm, basal cell"; rdfs:label "basal cell neoplasm" . a owl:Class; rdfs:subClassOf ; "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system."; "ICD9:341.8", "ICD9:341.9"; rdfs:label "demyelinating disease of central nervous system" . a owl:Class; rdfs:subClassOf , ; "A carcinoma involving the basal cells."; rdfs:label "basal cell carcinoma" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm involving the pancreas."; "pancreas"; rdfs:label "pancreatic neoplasm" . a owl:Class; rdfs:subClassOf ; "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas."; rdfs:label "glioma" . a owl:Class; rdfs:subClassOf ; "A neoplasm composed of at least two distinct cellular populations."; rdfs:label "mixed neoplasm" . a owl:Class; rdfs:subClassOf ; "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP."; rdfs:label "classic or attenuated familial adenomatous polyposis" . a owl:Class; rdfs:subClassOf , ; "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired."; rdfs:label "neoplastic syndrome" . a owl:Class; rdfs:subClassOf , ; "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma."; rdfs:label "malignant colon neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura."; rdfs:label "pleural neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003"; rdfs:label "urinary system neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant neoplasm involving the ovary."; rdfs:label "ovarian neoplasm" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma."; rdfs:label "malignant endocrine neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm involving the larynx."; rdfs:label "laryngeal neoplasm" . a owl:Class; rdfs:subClassOf ; "A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia."; rdfs:label "precancerous condition" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue."; rdfs:label "pancreatic exocrine neoplasm" . a owl:Class; rdfs:subClassOf ; "A benign or malignant neoplasm arising during childhood."; rdfs:label "childhood neoplasm" . a owl:Class; rdfs:subClassOf ; "Any impairment to the vision."; "MedDRA:10047518"; rdfs:label "vision disorder" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm involving the stomach."; rdfs:label "gastric neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma."; rdfs:label "fallopian tube neoplasm" . a owl:Class; rdfs:subClassOf , ; "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."; "immunodeficiency syndrome"; rdfs:label "immunodeficiency disease" . a owl:Class; rdfs:subClassOf ; "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."; rdfs:label "parkinsonian disorder" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males."; rdfs:label "breast neoplasm" . a owl:Class; rdfs:subClassOf ; "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function."; "acute and chronic respiratory failure"; rdfs:label "respiratory failure" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma."; "lung", "neoplasm, lung", "neoplasm, pulmonary", "neoplasms, lung", "neoplasms, pulmonary"; rdfs:label "lung neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm involving the small or large intestine."; "bowel neoplasm"; rdfs:label "intestinal neoplasm" . a owl:Class; rdfs:subClassOf , , ; "Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003"; rdfs:label "bone marrow cancer" . a owl:Class; rdfs:subClassOf , ; "melanomas and nevi"; rdfs:label "melanocytic neoplasm" . a owl:Class; rdfs:subClassOf ; "Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"; "cephalgia syndrome", "cephalgia syndromes", "chronic daily headache", "chronic daily headaches", "chronic headache", "chronic headaches", "daily headache, chronic", "daily headaches, chronic", "headache syndrome", "headache syndromes", "headache, chronic", "headache, chronic daily", "headache, intractable", "headaches, chronic", "headaches, chronic daily", "headaches, intractable", "intractable headache", "intractable headaches", "syndrome, headache"; rdfs:label "headache disorder" . a owl:Class; rdfs:subClassOf ; "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."; rdfs:label "disorder of development or morphogenesis" . a owl:Class; rdfs:subClassOf , ; "A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma."; rdfs:label "female reproductive system neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma."; rdfs:label "kidney neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease involving a pathogenic inflammatory response in the anatomical structure."; rdfs:label "inflammatory disease" . a owl:Class; rdfs:subClassOf , ; "An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue."; rdfs:label "myositis disease" . a owl:Class; "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity."; rdfs:label "injury" . a owl:Class; rdfs:subClassOf , ; "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins."; "proteinopathy", "proteopathic disease", "proteopathy"; rdfs:label "proteostasis deficiencies" . a owl:Class; rdfs:subClassOf ; "ICD9:272.4"; "hyperlipemia", "hyperlipemias", "lipemia", "lipemias", "lipidemia", "lipidemias"; rdfs:label "hyperlipidemia" . a owl:Class; rdfs:subClassOf ; "A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors."; "primary neuroepithelial tumor", "primary neuroepithelial tumour"; rdfs:label "neuroepithelial neoplasm" . _:3c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "primary neuroepithelial tumour"; . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the brain."; rdfs:label "brain neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the eye."; rdfs:label "eye neoplasm" . a owl:Class; rdfs:subClassOf ; "A neoplasm (disease) that involves the digestive system."; rdfs:label "digestive system neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the uvea."; rdfs:label "uvea neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the uterine cervix."; "cervix"; rdfs:label "uterine cervix neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the parotid gland."; rdfs:label "parotid gland neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the oral cavity."; "tumour of mouth"; rdfs:label "oral cavity neoplasm" . _:3c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "tumour of mouth"; . a owl:Class; rdfs:subClassOf ; "A neoplasm (disease) that involves the pharynx."; rdfs:label "pharynx neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the nervous system."; rdfs:label "nervous system neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the endometrium."; rdfs:label "endometrium neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the gall bladder."; rdfs:label "gallbladder neoplasm" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the prostate gland."; rdfs:label "prostate neoplasm" . a owl:Class; rdfs:subClassOf , ; "A cancer that involves the neck."; rdfs:label "malignant tumor of neck" . a owl:Class; rdfs:subClassOf , ; "A cancer that involves the nasopharynx."; rdfs:label "malignant tumor of nasopharynx" . a owl:Class; rdfs:subClassOf , ; "A carcinoma that involves the pharynx."; rdfs:label "carcinoma of pharynx" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the testis."; rdfs:label "neoplasm of testis" . a owl:Class; rdfs:subClassOf ; "A neoplasm (disease) that involves the thoracic segment of trunk."; rdfs:label "neoplasm of thorax" . a owl:Class; rdfs:subClassOf ; "A neoplasm (disease) that involves the neck."; rdfs:label "neoplasm of neck" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the uterus."; rdfs:label "tumor of uterus" . a owl:Class; rdfs:subClassOf , ; "A neoplasm (disease) that involves the esophagus."; rdfs:label "neoplasm of esophagus" . a owl:Class; rdfs:subClassOf , , ; "A neoplasm (disease) that involves the saliva-secreting gland."; rdfs:label "tumor of salivary gland" . a owl:Class; rdfs:subClassOf , , , ; "A neoplasm (disease) that involves the oropharynx."; rdfs:label "neoplasm of oropharynx" . a owl:Class; rdfs:subClassOf ; "A neoplasm (disease) that involves the major salivary gland."; rdfs:label "neoplasm of major salivary gland" . a owl:Class; rdfs:subClassOf , ; "A polyp that involves the large intestine."; rdfs:label "polyp of large intestine" . a owl:Class; rdfs:subClassOf , ; "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue."; "connective tissue neoplasms", "neoplasm, connective tissue"; rdfs:label "connective tissue neoplasm" . a owl:Class; rdfs:subClassOf , ; "A melanocytic neoplasm that involves the zone of skin."; rdfs:label "melanocytic skin neoplasm" . a owl:Class; rdfs:subClassOf ; rdfs:label "primary brain neoplasm" . a owl:Class; rdfs:subClassOf , ; "A epithelial neoplasm that involves the zone of skin."; rdfs:label "epithelial skin neoplasm" . a owl:Class; rdfs:subClassOf ; "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."; rdfs:label "neurocristopathy" . a owl:Class; rdfs:subClassOf ; "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma."; rdfs:label "astrocytic tumor" . a owl:Class; rdfs:subClassOf ; "A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma."; rdfs:label "low grade glioma" . a owl:Class; rdfs:subClassOf , ; "A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II)."; rdfs:label "low grade astrocytic tumor" . a owl:Class; rdfs:subClassOf ; "A disorder that follows infection but is distinct from the infection itself and its usual manifestations."; rdfs:label "post-infectious disorder" . a owl:Class; rdfs:subClassOf ; "A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations."; rdfs:label "post-viral disorder" . a owl:Class; rdfs:subClassOf ; "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method."; "Gram Positive bacterial infections", "Gram-positive bacterial infection", "Gramme Positive bacterial infections", "bacterial infection, Gram-positive", "bacterial infections, Gram Positive", "bacterial infections, Gram-positive", "bacterial infections, Gramme Positive", "infection, Gram-positive bacterial", "infections, Gram Positive bacterial", "infections, Gram-positive bacterial", "infections, Gramme Positive bacterial"; rdfs:label "gram-positive bacterial infections" . _:3c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gramme Positive bacterial infections"; . _:3ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "bacterial infections, Gramme Positive"; . _:3cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "infections, Gramme Positive bacterial"; . a owl:Class; rdfs:subClassOf ; "Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G."; "infection, streptococcal", "infections, streptococcal"; rdfs:label "streptococcal infection" . a owl:Class; rdfs:subClassOf , ; "A Disease due to or propagated by sexual contact."; "STDs", "STI", "STIs", "Transmitted infection, sexually", "Transmitted infections, sexually", "disease, sexually Transmitted", "disease, venereal", "diseases, sexually Transmitted", "diseases, venereal", "infection, sexually Transmitted", "infections, sexually Transmitted", "sexually Transmitted infection", "sexually Transmitted infections", "venereal disease", "venereal diseases"; rdfs:label "sexually transmitted disease" . a owl:Class; rdfs:subClassOf , ; "Viral diseases which are potentially transmitted or propagated by sexual conduct."; "disease, viral venereal", "diseases, viral venereal", "sexually Transmitted disease, viral", "venereal disease, viral", "venereal diseases, viral", "viral sexually Transmitted diseases", "viral venereal disease", "viral venereal diseases"; rdfs:label "viral sexually transmitted disease" . a owl:Class; rdfs:subClassOf ; "Disorders related to or resulting from abuse or mis-use of alcohol."; "alcohol related disorders", "alcohol-related disorder", "disorder, alcohol-related", "disorders, alcohol-related"; rdfs:label "alcohol-related disorders" . a owl:Class; rdfs:subClassOf ; "Disorders stemming from the misuse and abuse of alcohol."; "alcohol induced disorders", "alcohol-induced disorder"; rdfs:label "alcohol-induced disorders" . a owl:Class; rdfs:subClassOf ; "Infections with bacteria of the order SPIROCHAETALES."; "INFECT SPIROCHAETALES", "INFECT SPIROCHETE", "Infection, Spirochaetales", "Infection, Spirochete", "Infections, Spirochaetales", "Infections, Spirochete", "SPIROCHAETALES INFECT", "SPIROCHETE INFECT", "Spirochaetales Infection", "Spirochetal infection", "Spirochete Infection", "Spirochete Infections", "Spirochetosis"; rdfs:label "spirochaetales infections" . a owl:Class; rdfs:subClassOf , ; "Inflammation of the tracheobronchial tree."; rdfs:label "tracheobronchitis" . a owl:Class; rdfs:subClassOf ; "A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear."; rdfs:label "hearing disorder" . a owl:Class; rdfs:subClassOf ; "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection."; "Disease caused by Lentivirus", "Disease due to Lentivirus", "Infection, Lentivirus", "Infections, Lentivirus", "Lentivirus Infections"; rdfs:label "lentivirus infection" . a owl:Class; rdfs:subClassOf ; "ICD9:696.1"; rdfs:label "pustular psoriasis" . a owl:Class; rdfs:subClassOf , ; "ICD9:508.9"; "Occupational inhalation disease", "Occupational lung disorder", "Occupational pulmonary disease", "Occupational respiratory disease"; rdfs:label "occupational lung disease" . a owl:Class; rdfs:subClassOf , ; "Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE."; "Asthma, Occupational", "Asthmas, Occupational", "Industrial asthma", "Occupational Asthmas"; rdfs:label "occupational asthma" . a owl:Class; rdfs:subClassOf , ; "Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories."; "colorectal cancer, familial"; rdfs:label "familial colorectal cancer" . a owl:Class; rdfs:subClassOf ; "A disease that involves the facial skeleton."; rdfs:label "disorder of facial skeleton" . a owl:Class; owl:equivalentClass _:3cc2; rdfs:subClassOf ; "Either an isolated neoplasm or a syndrome with neoplasm as a major feature."; rdfs:label "neoplastic disease or syndrome" . _:3cc2 a owl:Class; owl:unionOf _:3cd2 . _:3cd2 rdf:first ; rdf:rest _:3ce2 . _:3ce2 rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf , ; "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."; "Inherited disorder of connective tissue"; rdfs:label "hereditary disorder of connective tissue" . a owl:Class; rdfs:subClassOf , ; "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."; rdfs:label "inherited neurodegenerative disorder" . a owl:Class; rdfs:subClassOf , , ; "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."; rdfs:label "hereditary motor neuron disease" . a owl:Class; rdfs:subClassOf , , ; "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS."; "disease, parasitic intestinal", "diseases, parasitic intestinal", "intestinal disease, parasitic", "parasitic intestinal diseases"; rdfs:label "parasitic intestinal disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "glandular cell neoplasm" . a owl:Class; rdfs:subClassOf , ; "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas."; rdfs:label "colorectal carcinoma" . a owl:Class; rdfs:subClassOf , ; "A neoplasm involving a urothelium."; rdfs:label "urothelial neoplasm" . a owl:Class; rdfs:subClassOf , ; "A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus."; rdfs:label "viral respiratory tract infection" . a owl:Class; rdfs:subClassOf , ; "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases."; "infection, respiratory tract", "infections, respiratory", "infections, respiratory tract", "infections, upper respiratory", "infections, upper respiratory tract", "respiratory infections", "respiratory tract infection"; rdfs:label "respiratory tract infectious disorder" . a owl:Class; rdfs:subClassOf ; "A disease that involves the visual system."; rdfs:label "disorder of visual system" . a owl:Class; rdfs:subClassOf ; "A disease that involves the apocrine sweat gland."; rdfs:label "apocrine sweat gland disorder" . a owl:Class; rdfs:subClassOf , ; "A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia)."; rdfs:label "intraepithelial neoplasia" . a owl:Class; rdfs:subClassOf , , ; "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma."; rdfs:label "liver and intrahepatic bile duct neoplasm" . a owl:Class; rdfs:subClassOf , , ; "A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)."; "GEP tumors", "GEP tumours", "carcinoid tumor", "carcinoid tumour"; rdfs:label "digestive system neuroendocrine neoplasm" . _:3cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEP tumours"; . _:3d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "carcinoid tumour"; . a owl:Class; rdfs:subClassOf ; "A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor."; "Complications, pregnancy", "complication, pregnancy", "pregnancy complication"; rdfs:label "pregnancy disorder" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma."; rdfs:label "male reproductive system neoplasm" . a owl:Class; rdfs:subClassOf ; "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases."; "ENT disease", "ENT diseases", "disease, ENT", "disease, otolaryngologic", "disease, otolaryngological", "disease, otorhinolaryngologic", "disease, otorhinolaryngological", "diseases, ENT", "diseases, otolaryngologic", "diseases, otolaryngological", "diseases, otorhinolaryngologic", "diseases, otorhinolaryngological", "otolaryngologic disease", "otolaryngologic diseases", "otolaryngological disease", "otolaryngological diseases", "otorhinolaryngological disease", "otorhinolaryngological diseases"; rdfs:label "otorhinolaryngologic disease" . a owl:Class; rdfs:subClassOf ; "A disease that involves the lacrimal gland."; rdfs:label "disorder of lacrimal gland" . a owl:Class; rdfs:subClassOf ; "Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria."; rdfs:label "hypertensive nephropathy" . a owl:Class; rdfs:subClassOf ; "A disease that involves the large intestine."; rdfs:label "large intestine disorder" . a owl:Class; rdfs:subClassOf ; "A disease that involves the small intestine."; rdfs:label "small intestine disorder" . a owl:Class; rdfs:subClassOf , ; "A malignant neoplasm arising exclusively from the soft tissues."; rdfs:label "malignant soft tissue neoplasm" . a owl:Class; rdfs:subClassOf ; "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy."; rdfs:label "myocardial disorder" . a owl:Class; rdfs:subClassOf , ; "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction)."; "disease, ischaemic heart", "disease, ischemic heart", "diseases, ischaemic heart", "diseases, ischemic heart", "heart disease, ischaemic", "heart disease, ischemic", "heart diseases, ischaemic", "heart diseases, ischemic", "ischaemic heart diseases", "ischemia, myocardial", "ischemias, myocardial", "ischemic heart diseases", "myocardial Ischemias"; rdfs:label "myocardial ischemia" . _:3d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "disease, ischaemic heart"; . _:3d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "diseases, ischaemic heart"; . _:3d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart disease, ischaemic"; . _:3d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "heart diseases, ischaemic"; . _:3d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ischaemic heart diseases"; . a owl:Class; rdfs:subClassOf ; "Stone(s) within the urinary tract."; rdfs:label "urolithiasis" . a owl:Class; rdfs:subClassOf ; "A non-neoplastic or neoplastic disorder that affects structures of the skull."; rdfs:label "skull disorder" . a owl:Class; owl:equivalentClass _:3d62; rdfs:subClassOf , ; "A hypertensive disorder that develops during pregnancy."; "gestational hypertension", "hypertension, gestational", "hypertension, pregnancy induced", "hypertension, pregnancy transient", "hypertensions, pregnancy induced", "induced Hypertensions, pregnancy", "induced hypertension, pregnancy", "pregnancy induced hypertension", "pregnancy transient hypertension", "transient hypertension, pregnancy"; rdfs:label "hypertension, pregnancy-induced" . _:3d62 a owl:Class; owl:intersectionOf _:3d72 . _:3d72 rdf:first ; rdf:rest _:3d82 . _:3d82 rdf:first ; rdf:rest rdf:nil . a owl:Class; rdfs:subClassOf , ; "An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma."; rdfs:label "malignant ovarian serous tumor" . a owl:Class; rdfs:subClassOf ; "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic."; "Tick borne diseases", "Tick borne infections", "Tick-borne disease", "Tick-borne infection", "Tick-borne infections", "disease, Tick-borne", "diseases, Tick-borne", "infection, Tick-borne", "infections, Tick borne", "infections, Tick-borne"; rdfs:label "tick-borne infectious disease" . a owl:Class; rdfs:subClassOf ; "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent."; "Poisonings"; rdfs:label "poisoning" . a owl:Class; rdfs:subClassOf ; rdfs:label "multisystem inflammatory syndrome in children and adults" . a owl:Class; rdfs:subClassOf ; rdfs:label "transitional cell neoplasm" . a owl:Class; rdfs:subClassOf , ; "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage."; rdfs:label "ovarian serous tumor" . a owl:Class; rdfs:subClassOf ; rdfs:label "serous neoplasm" . a owl:Class; rdfs:subClassOf ; "An elevated concentration of lipoproteins."; rdfs:label "hyperlipoproteinemia" . a owl:Class; rdfs:subClassOf , ; "A disease that involves the intervertebral joint."; rdfs:label "vertebral joint disorder" . a owl:Class; rdfs:subClassOf ; "A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma."; rdfs:label "invasive carcinoma" . a owl:Class; rdfs:subClassOf , , ; "A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary."; rdfs:label "urothelial carcinoma" . a owl:Class; rdfs:subClassOf ; rdfs:label "Pseudomonas aeruginosa infectious disease" . a owl:Class; rdfs:subClassOf ; "pregnancy with abortive outcome"; rdfs:label "pregnancy disorder with abortive outcome" . a owl:Class; rdfs:subClassOf ; "A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG."; rdfs:label "ST-elevation myocardial infarction" . a owl:Class; rdfs:subClassOf ; "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases."; "diatheses", "diathesis", "disease susceptibilities", "susceptibilities, disease", "susceptibility, disease"; rdfs:label "disease susceptibility" . a owl:Class; rdfs:subClassOf , ; "Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever."; "valvular aortic stenosis"; rdfs:label "aortic valve stenosis" . a owl:Class; rdfs:subClassOf , ; "A disorder of the nervous system related to a vascular etiology."; rdfs:label "neurovascular disorder" . a owl:Class; rdfs:subClassOf , ; "A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system."; rdfs:label "digestive system infectious disorder" . a owl:Class; rdfs:subClassOf , ; "Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits."; "brain Traumas", "brain trauma"; rdfs:label "brain injury" . a owl:Class; rdfs:subClassOf , ; "A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis."; "liver disease, alcoholic"; rdfs:label "alcoholic liver disease" . a owl:Class; rdfs:subClassOf , ; "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia."; rdfs:label "pneumonitis" . a owl:Class; rdfs:subClassOf ; "Any disease affecting the vitreous body of the eye."; "ICD9:379.29"; rdfs:label "vitreous body disorder" . a owl:Class; rdfs:subClassOf ; "A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue."; rdfs:label "connective and soft tissue neoplasm" . a owl:Class; rdfs:subClassOf ; "Any degenerative disorder affecting one or more vertebral disks of the lumbar spine."; "lumbar disc degeneration, susceptibility to", "lumbar disc disease", "lumbar disc herniation, susceptibility to"; rdfs:label "lumbar disk degenerative disorder" . _:3d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lumbar disc degeneration, susceptibility to"; . _:3da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lumbar disc disease"; . _:3db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "lumbar disc herniation, susceptibility to"; . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the erythrocyte."; "ICD9:289.9"; rdfs:label "erythrocyte disorder" . a owl:Class; rdfs:subClassOf ; "ICD9:282.7"; "haemoglobin disease", "haemoglobin disorder"; rdfs:label "hemoglobinopathy" . _:3dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haemoglobin disease"; . _:3dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "haemoglobin disorder"; . a owl:Class; rdfs:subClassOf , ; "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures."; "Injuries, craniocervical", "Injuries, nervous system", "craniocervical Injuries", "craniocervical injury", "injury, craniocervical", "injury, nervous system", "nervous system Injuries", "nervous system Traumas", "nervous system trauma"; rdfs:label "nervous system injury" . a owl:Class; rdfs:subClassOf ; "A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes."; rdfs:label "hematopoietic and lymphoid cell neoplasm" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the lymphoid system."; rdfs:label "lymphoid system disorder" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the upper digestive tract."; rdfs:label "upper digestive tract disorder" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the cerebral cortex."; rdfs:label "cerebral cortex disorder" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the cardiac ventricle."; rdfs:label "cardiac ventricle disorder" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the vertebra."; rdfs:label "vertebral disorder" . a owl:Class; rdfs:subClassOf ; "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions."; "cell proliferation disorder"; rdfs:label "cancer or benign tumor" . a owl:Class; rdfs:subClassOf ; "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria."; rdfs:label "toxemia of pregnancy" . a owl:Class; rdfs:subClassOf ; "A disease or disorder that involves the vermiform appendix."; "ICD9:543.9"; rdfs:label "disorder of appendix" . a owl:Class; rdfs:subClassOf ; "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."; rdfs:label "complex neurodevelopmental disorder" . a owl:Class; rdfs:subClassOf ; "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep."; rdfs:label "sleep disorder" . a owl:Class; rdfs:subClassOf , , ; "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner."; rdfs:label "familial Alzheimer disease" . a owl:Class; rdfs:subClassOf ; "A disease caused by infection with severe acute respiratory syndrome coronavirus 2."; "2019 novel coronavirus", "2019-nCoV", "SARS-CoV-2", "SARS-coronavirus 2", "beta-CoV", "beta-CoVs", "betacoronavirus", "severe acute respiratory syndrome coronavirus 2", "β-CoV", "β-CoVs", "β-coronavirus"; rdfs:label "COVID-19" . a owl:Class; rdfs:subClassOf , ; "An instance of skin disease that is caused by a modification of the individual's genome."; rdfs:label "hereditary skin disorder" . a owl:Class; rdfs:subClassOf ; "An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector."; rdfs:label "vector-borne disease" . a owl:Class; rdfs:subClassOf , ; "A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms."; rdfs:label "COVID-19–associated multisystem inflammatory syndrome in children" . a owl:Class; rdfs:subClassOf ; "A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction."; rdfs:label "long COVID-19" . a owl:Class; rdfs:subClassOf , ; "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure."; rdfs:label "focal segmental glomerulosclerosis" . a owl:Class; rdfs:subClassOf ; "A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection."; rdfs:label "post-COVID-19 disorder" . a owl:Class; rdfs:subClassOf ; "The initial viral infectious disase that causes illness."; rdfs:label "primary viral infectious disease" . a owl:Class; rdfs:subClassOf , , ; "A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma."; rdfs:label "malignant glioma" . a owl:Class; rdfs:subClassOf ; "Any disorder that is realized in response to an exposure to occupation."; rdfs:label "occupational disorder" . a owl:Class; rdfs:subClassOf ; "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands."; rdfs:label "autoimmune primary adrenal insufficiency" . a owl:Class; rdfs:subClassOf , ; "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."; rdfs:label "hereditary neurological disease" . a owl:Class; rdfs:subClassOf , ; "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."; rdfs:label "hereditary neuromuscular disease" . a owl:Class; rdfs:subClassOf ; "Epilepsy that is characterized by generalized seizure types and may have typical interictal and/or ictal EEG findings that accompany generalized seizure types (for example generalized spike-wave)."; rdfs:label "generalized epilepsy" . a owl:Class; rdfs:subClassOf ; "A generalized epilepsy that is understood to have a genetic etiology. This does not always mean that the epilepsy is inherited or can be transmitted to offspring, as the genetic etiology may be a de novo pathogenic variant, or the genetic etiology may have complex/polygenic inheritance."; rdfs:label "genetic generalized epilepsy" . a owl:Class; rdfs:subClassOf , ; "An instance of generalized epilepsy that is caused by an inherited genomic modification in an individual."; rdfs:label "hereditary generalized epilepsy" . a owl:Class; rdfs:subClassOf ; "An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions."; rdfs:label "ocular growth disorder" . a owl:Class; rdfs:subClassOf ; "A myopathy caused by exposure to a drug."; rdfs:label "drug-induced myopathy" . a owl:Class; rdfs:subClassOf ; "Idiopathic form of inflammatory myopathy."; rdfs:label "idiopathic inflammatory myopathy" . a owl:Class; rdfs:subClassOf ; "Disorder associated with pregnancy, childbirth, and puerperium."; rdfs:label "obstetric disorder" . a owl:Class; rdfs:subClassOf ; "A disease or disorder for which the cause is of uncertain or unknown."; rdfs:label "idiopathic disease" . a owl:Class; rdfs:subClassOf ; "Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease."; rdfs:label "TDP-43 proteinopathy" . a owl:Class; rdfs:subClassOf ; "A nervous system disorder that has pain as a major feature."; rdfs:label "neurological pain disorder" . a owl:Class; rdfs:subClassOf ; "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."; rdfs:label "neurodevelopmental disorder" . a owl:Class; rdfs:subClassOf ; rdfs:label "human disease" . a owl:Class; rdfs:subClassOf ; "Chromosomal disorder in which chromosome 21 is affected."; rdfs:label "chromosome 21 disorder" . a owl:Class; rdfs:subClassOf ; "Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation."; rdfs:label "disease related to transplantation" . a owl:Class; rdfs:subClassOf ; "Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation."; rdfs:label "disease related to hematopoietic stem cell transplant" . a owl:Class; rdfs:subClassOf ; "A glomerular disorder caused by the structural or functional impairment of podocytes, which leads to proteinuria and often nephrotic syndrome."; rdfs:label "podocytopathy" . a owl:Class; rdfs:subClassOf , ; "Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin."; rdfs:label "platinum-induced ototoxicity" . a owl:Class; rdfs:subClassOf ; "A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease."; rdfs:label "metabolic bone disorder" . a owl:Class; rdfs:subClassOf , ; "An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause."; rdfs:label "idiopathic pulmonary fibrosis" . a owl:Class; rdfs:subClassOf ; "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene."; rdfs:label "myeloid leukemia associated with down syndrome" . a owl:Class; rdfs:subClassOf ; "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints."; rdfs:label "subjective cognitive decline" . a owl:Class; rdfs:subClassOf ; "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head."; rdfs:label "traumatic brain injury" . a owl:Class; rdfs:subClassOf ; rdfs:label "idiopathic subglottic stenosis" . a owl:Class; rdfs:subClassOf ; "A disease related to transplantation that occurs when transplant tissue is rejected by the recipient's immune system, which destroys the transplanted tissue."; rdfs:label "transplant rejection" . a owl:Class; rdfs:subClassOf ; "An atrial fibrillation disorder characterized by intermittent atrial fibrillation that lasts less than seven days from onset."; rdfs:label "paroxysmal atrial fibrillation" . a owl:Class; rdfs:subClassOf ; "An infectious disease characterized by life-threatening organ dysfunction due to a dysreguated host response."; rdfs:label "infectious disease with sepsis" . a owl:Class; rdfs:subClassOf ; "Any exudative vitreoretinopathy caused by a variant in the FZD4 gene."; rdfs:label "FZD4-related exudative vitreoretinopathy" . a owl:Class; rdfs:subClassOf ; "Any cardiovascular disease resulting from atherosclerosis."; rdfs:label "atherosclerotic cardiovascular disease" . a owl:Class; rdfs:subClassOf ; "A stroke disorder caused by obstruction of blood flow to the brain, due to thrombotic (local blood clot formation) or embolic (due to a blood clot or other material traveling from another site) event."; rdfs:label "ischemic stroke" . a owl:Class; rdfs:subClassOf ; "A stroke disorder caused by bleeding into the brain parenchyma or surrounding spaces. Hemorrhagic stroke includes intracerebral hemorrhage (bleeding within the brain tissue) and subarachnoid hemorrhage (bleeding in the space between the brain and the surrounding membrane)."; rdfs:label "hemorrhagic stroke" . a owl:Class; rdfs:subClassOf ; "A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology within the thyroid gland itself. Primary hyperthyroidism is characterized by low TSH levels and elevated T3/T4 levels."; rdfs:label "primary hyperthyroidism" . a owl:Class; rdfs:subClassOf ; "A retinal drusen characterized by subretinal deposits located internal to the retinal pigment epithelium, composed of material aggregations in the subretinal space between photoreceptors and the retinal pigment epithelium. These deposits have a bluish-white appearance by biomicroscopy and appear as hyperreflective lesions above the retinal pigment epithelium on optical coherence tomography."; rdfs:label "reticular pseudodrusen" . a owl:Class; rdfs:subClassOf ; "A form of diabetes mellitus unique to individuals with cystic fibrosis (CF), arising primarily from progressive fibrotic destruction of the pancreas leading to insulin deficiency, with additional contributions from insulin resistance. CFRD affects approximately 20% of adolescents and 40-50% of adults with CF. It shares features with both type 1 and type 2 diabetes but is a distinct clinical entity with its own diagnostic criteria and management guidelines."; rdfs:label "cystic fibrosis-related diabetes" . a owl:Class; rdfs:subClassOf ; "A liver disorder that arises as a consequence of cystic fibrosis. Cystic fibrosis-related liver disease encompasses a spectrum of hepatobiliary abnormalities caused by CFTR dysfunction in cholangiocytes, including focal biliary cirrhosis, multilobular biliary cirrhosis, hepatic steatosis, and cholangiopathy. It is a significant cause of non-pulmonary morbidity and mortality in CF, affecting approximately 5-10% of CF patients."; rdfs:label "cystic fibrosis-related liver disease" . a owl:Class; rdfs:subClassOf ; "A grouping class for human diseases classified by the body system or anatomical component primarily affected."; rdfs:label "disease by body system or component" . a owl:Class; rdfs:subClassOf ; "A grouping class for human diseases classified by the molecular, biochemical, cellular, anatomic, developmental or physiological process that is disrupted."; rdfs:label "disease by developmental or physiological process" . a owl:Class; rdfs:subClassOf ; "A grouping class for human diseases classified by their etiologic mechanism, encompassing primarily intrinsic (genetic, genomic), primarily extrinsic (e.g., infections, toxins, radiation), and complex multifactorial (e.g. nutritional) causes."; rdfs:label "disease by etiologic mechanism" . a owl:Class; rdfs:subClassOf ; "A grouping class for human diseases caused by genetic or genomic alterations, including chromosomal abnormalities and heritable mutations."; rdfs:label "disease of genetic or genomic mechanism" . a owl:Class; rdfs:subClassOf ; "A grouping class for human diseases caused primarily by extrinsic factors, including infections, toxins, nutritional deficiencies, iatrogenic causes, and environmental exposures."; rdfs:label "disease of primarily extrinsic mechanism" . a owl:Class; rdfs:subClassOf ; "A grouping class for human diseases classified by their underlying molecular or pathophysiological mechanism, such as protein aggregation, ion channel dysfunction, or signal transduction disruption."; rdfs:label "disease by molecular mechanism" . a owl:Class; rdfs:subClassOf , ; "A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease."; rdfs:label "antiphospholipid syndrome" . a owl:Class; rdfs:subClassOf ; rdfs:label "Geographic Area" . a owl:Class; rdfs:label "Conceptual Entity" . a owl:Class; rdfs:subClassOf ; rdfs:label "Country" . a owl:Class; rdfs:subClassOf ; "A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities"; rdfs:label "quality" . _:3de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities"; "PATOC:GVG" . a owl:Class; "A group of individuals grouped together based on a shared characteristic or property of interest."; "EFO:0004445", "NCIT:C61512"; rdfs:label "cohort"@en . a owl:Class; rdfs:subClassOf _:3df2, _:3e02; "A study, project or consortium that compares multiple cohorts."; rdfs:label "cohort aggregation"@en . _:3df2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e02 a owl:Restriction; owl:onProperty ; owl:minQualifiedCardinality "2"^^xsd:nonNegativeInteger; owl:onClass . a owl:Class; "A holding class for a cohort individual that has not yet been classified as a cohort or a cohort aggregation. Nothing should remain here."@en; rdfs:label "temporary unclassified"@en . a owl:NamedIndividual, ; "GAZ:00000457"; rdfs:label "Africa" . a owl:NamedIndividual, ; ; "GAZ:00002928"; rdfs:label "Argentina" . a owl:NamedIndividual, ; ; "GAZ:00004094"; rdfs:label "Armenia" . a owl:NamedIndividual, ; "GAZ:00000465"; rdfs:label "Asia" . a owl:NamedIndividual, ; ; "GAZ:00000463"; rdfs:label "Australia" . a owl:NamedIndividual, ; ; "GAZ:00002942"; rdfs:label "Austria" . a owl:NamedIndividual, ; ; "GAZ:00004941"; rdfs:label "Azerbaijan" . a owl:NamedIndividual, ; ; "GAZ:00003750"; rdfs:label "Bangladesh" . a owl:NamedIndividual, ; ; "GAZ:00001251"; rdfs:label "Barbados" . a owl:NamedIndividual, ; ; "GAZ:00006886"; rdfs:label "Belarus" . a owl:NamedIndividual, ; ; "GAZ:00002938"; rdfs:label "Belgium" . a owl:NamedIndividual, ; ; "GAZ:00001097"; rdfs:label "Botswana" . a owl:NamedIndividual, ; ; "GAZ:00002828"; rdfs:label "Brazil" . a owl:NamedIndividual, ; ; "GAZ:00002950"; rdfs:label "Bulgaria" . a owl:NamedIndividual, ; ; "GAZ:00000905"; rdfs:label "Burkina Faso" . a owl:NamedIndividual, ; ; "GAZ:00001093"; rdfs:label "Cameroon" . a owl:NamedIndividual, ; ; "GAZ:00002560"; rdfs:label "Canada" . a owl:NamedIndividual, ; ; "GAZ:00000588"; rdfs:label "Central Africa" . a owl:NamedIndividual, ; ; "GAZ:00002891"; rdfs:label "Central America" . a owl:NamedIndividual, ; ; "GAZ:00002825"; rdfs:label "Chile" . a owl:NamedIndividual, ; ; "GAZ:00002845"; rdfs:label "China" . a owl:NamedIndividual, ; ; "GAZ:00002929"; rdfs:label "Colombia" . a owl:NamedIndividual, ; ; "GAZ:00002901"; rdfs:label "Costa Rica" . a owl:NamedIndividual, ; ; "GAZ:00002719"; rdfs:label "Croatia" . a owl:NamedIndividual, ; ; "GAZ:00003762"; rdfs:label "Cuba" . a owl:NamedIndividual, ; ; "GAZ:00453362"; rdfs:label "Cyprus" . a owl:NamedIndividual, ; ; "GAZ:00002954"; rdfs:label "Czech Republic" . a owl:NamedIndividual, ; ; "GAZ:00001086"; rdfs:label "Democratic Republic of the Congo" . a owl:NamedIndividual, ; ; "GAZ:00002635"; rdfs:label "Denmark" . a owl:NamedIndividual, ; ; "GAZ:00003952"; rdfs:label "Dominican Republic" . a owl:NamedIndividual, ; ; "GAZ:00000556"; rdfs:label "Eastern Africa" . a owl:NamedIndividual, ; ; "GAZ:00002471"; rdfs:label "Eastern Asia" . a owl:NamedIndividual, ; ; "GAZ:00002912"; rdfs:label "Ecuador" . a owl:NamedIndividual, ; ; "GAZ:00003934"; rdfs:label "Egypt" . a owl:NamedIndividual, ; ; "GAZ:00002935"; rdfs:label "El Salvador" . a owl:NamedIndividual, ; ; "GAZ:00002959"; rdfs:label "Estonia" . a owl:NamedIndividual, ; ; "GAZ:00000567"; rdfs:label "Ethiopia" . a owl:NamedIndividual, ; "GAZ:00000464"; rdfs:label "Europe" . a owl:NamedIndividual, ; ; "GAZ:00002937"; rdfs:label "Finland" . a owl:NamedIndividual, ; ; "GAZ:00002940"; rdfs:label "France" . a owl:NamedIndividual, ; ; "GAZ:00002646"; rdfs:label "Germany" . a owl:NamedIndividual, ; ; "GAZ:00000908"; rdfs:label "Ghana" . a owl:NamedIndividual, ; ; "GAZ:00002945"; rdfs:label "Greece" . a owl:NamedIndividual, ; ; "GAZ:00002936"; rdfs:label "Guatemala" . a owl:NamedIndividual, ; ; "GAZ:00001550"; rdfs:label "Guernsey" . a owl:NamedIndividual, ; ; "GAZ:00000909"; rdfs:label "Guinea" . a owl:NamedIndividual, ; ; "GAZ:00000910"; rdfs:label "Guinea-Bissau" . a owl:NamedIndividual, ; ; "GAZ:00003953"; rdfs:label "Haiti" . a owl:NamedIndividual, ; ; "GAZ:00003203"; rdfs:label "Hong Kong" . a owl:NamedIndividual, ; ; "GAZ:00002952"; rdfs:label "Hungary" . a owl:NamedIndividual, ; ; "GAZ:00000843"; rdfs:label "Iceland" . a owl:NamedIndividual, ; ; "GAZ:00002839"; rdfs:label "India" . a owl:NamedIndividual, ; ; "GAZ:00003727"; rdfs:label "Indonesia" . a owl:NamedIndividual, ; ; "GAZ:00004474"; rdfs:label "Iran" . a owl:NamedIndividual, ; ; "GAZ:00002476"; rdfs:label "Israel" . a owl:NamedIndividual, ; ; "GAZ:00002650"; rdfs:label "Italy" . a owl:NamedIndividual, ; ; "GAZ:00000906"; rdfs:label "Ivory Coast" . a owl:NamedIndividual, ; ; "GAZ:00003781"; rdfs:label "Jamaica" . a owl:NamedIndividual, ; ; "GAZ:00002747"; rdfs:label "Japan" . a owl:NamedIndividual, ; ; "GAZ:00004999"; rdfs:label "Kazakhstan" . a owl:NamedIndividual, ; ; "GAZ:00001101"; rdfs:label "Kenya" . a owl:NamedIndividual, ; ; "GAZ:00005285"; rdfs:label "Kuwait" . a owl:NamedIndividual, ; "GAZ:00000459"; rdfs:label "Latin America and the Caribbean" . a owl:NamedIndividual, ; ; "GAZ:00002958"; rdfs:label "Latvia" . a owl:NamedIndividual, ; ; "GAZ:00002478"; rdfs:label "Lebanon" . a owl:NamedIndividual, ; ; "GAZ:00003858"; rdfs:label "Liechtenstein" . a owl:NamedIndividual, ; ; "GAZ:00002960"; rdfs:label "Lithuania" . a owl:NamedIndividual, ; ; "GAZ:00002947"; rdfs:label "Luxembourg" . a owl:NamedIndividual, ; ; "GAZ:00001105"; rdfs:label "Malawi" . a owl:NamedIndividual, ; ; "GAZ:00003902"; rdfs:label "Malaysia" . a owl:NamedIndividual, ; ; "GAZ:00004017"; rdfs:label "Malta" . a owl:NamedIndividual, ; ; "GAZ:00003745"; rdfs:label "Mauritius" . a owl:NamedIndividual, ; ; "GAZ:00005860"; rdfs:label "Melanesia" . a owl:NamedIndividual, ; ; "GAZ:00002852"; rdfs:label "Mexico" . a owl:NamedIndividual, ; ; "GAZ:00005862"; rdfs:label "Micronesia" . a owl:NamedIndividual, ; ; "GAZ:00003897"; rdfs:label "Moldova" . a owl:NamedIndividual, ; ; "GAZ:00001100"; rdfs:label "Mozambique" . a owl:NamedIndividual, ; ; "GAZ:00001549"; rdfs:label "Netherlands" . a owl:NamedIndividual, ; ; "GAZ:00000469"; rdfs:label "New Zealand" . a owl:NamedIndividual, ; ; "GAZ:00000912"; rdfs:label "Nigeria" . a owl:NamedIndividual, ; ; "GAZ:00006895"; rdfs:label "North Macedonia" . a owl:NamedIndividual, ; ; "GAZ:00000555"; rdfs:label "Northern Africa" . a owl:NamedIndividual, ; "GAZ:00000458"; rdfs:label "Northern America" . a owl:NamedIndividual, ; ; "GAZ:00002699"; rdfs:label "Norway" . a owl:NamedIndividual, ; "GAZ:00000468"; rdfs:label "Oceania" . a owl:NamedIndividual, ; ; "GAZ:00005246"; rdfs:label "Pakistan" . a owl:NamedIndividual, ; ; "GAZ:00002475"; rdfs:label "Palestinian territories" . a owl:NamedIndividual, ; ; "GAZ:00002892"; rdfs:label "Panama" . a owl:NamedIndividual, ; ; "GAZ:00002932"; rdfs:label "Peru" . a owl:NamedIndividual, ; ; "GAZ:00004525"; rdfs:label "Philippines" . a owl:NamedIndividual, ; ; "GAZ:00002939"; rdfs:label "Poland" . a owl:NamedIndividual, ; ; "GAZ:00005861"; rdfs:label "Polynesia" . a owl:NamedIndividual, ; ; "GAZ:00002944"; rdfs:label "Portugal" . a owl:NamedIndividual, ; ; "GAZ:00006935"; rdfs:label "Puerto Rico" . a owl:NamedIndividual, ; ; "GAZ:00005286"; rdfs:label "Qatar" . a owl:NamedIndividual, ; ; "GAZ:00002943"; rdfs:label "Republic of Ireland" . a owl:NamedIndividual, ; ; "GAZ:00002951"; rdfs:label "Romania" . a owl:NamedIndividual, ; ; "GAZ:00002721"; rdfs:label "Russia" . a owl:NamedIndividual, ; ; "GAZ:00006909"; rdfs:label "Saint Lucia" . a owl:NamedIndividual, ; ; "GAZ:00005279"; rdfs:label "Saudi Arabia" . a owl:NamedIndividual, ; ; "GAZ:00002957"; rdfs:label "Serbia" . a owl:NamedIndividual, ; ; "GAZ:00003923"; rdfs:label "Singapore" . a owl:NamedIndividual, ; ; "GAZ:00002956"; rdfs:label "Slovakia" . a owl:NamedIndividual, ; ; "GAZ:00002955"; rdfs:label "Slovenia" . a owl:NamedIndividual, ; ; "GAZ:00000559"; rdfs:label "South-Eastern Asia" . a owl:NamedIndividual, ; "GAZ:00000459"; rdfs:label "South America" . a owl:NamedIndividual, ; ; "GAZ:00000553"; rdfs:label "South Africa" . a owl:NamedIndividual, ; ; "GAZ:00002472"; rdfs:label "South Asia" . a owl:NamedIndividual, ; ; "GAZ:00002802"; rdfs:label "South Korea" . a owl:NamedIndividual, ; ; "GAZ:00000553"; rdfs:label "Southern Africa" . a owl:NamedIndividual, ; ; "GAZ:00000591"; rdfs:label "Spain" . a owl:NamedIndividual, ; ; "GAZ:00003924"; rdfs:label "Sri Lanka" . a owl:NamedIndividual, ; ; "GAZ:00000560"; rdfs:label "Sudan" . a owl:NamedIndividual, ; ; "GAZ:00002729"; rdfs:label "Sweden" . a owl:NamedIndividual, ; ; "GAZ:00002941"; rdfs:label "Switzerland" . a owl:NamedIndividual, ; ; "GAZ:00005341"; rdfs:label "Taiwan" . a owl:NamedIndividual, ; ; "GAZ:00006912"; rdfs:label "Tajikistan" . a owl:NamedIndividual, ; ; "GAZ:00001103"; rdfs:label "Tanzania" . a owl:NamedIndividual, ; ; "GAZ:00003744"; rdfs:label "Thailand" . a owl:NamedIndividual, ; ; "GAZ:00000558"; rdfs:label "Turkey" . a owl:NamedIndividual, ; ; "GAZ:00009715"; rdfs:label "Tuvalu" . a owl:NamedIndividual, ; ; "GAZ:00001102"; rdfs:label "Uganda" . a owl:NamedIndividual, ; ; "GAZ:00002724"; rdfs:label "Ukraine" . a owl:NamedIndividual, ; ; "GAZ:00005282"; rdfs:label "United Arab Emirates" . a owl:NamedIndividual, ; ; "GAZ:00002637"; rdfs:label "United Kingdom" . a owl:NamedIndividual, ; ; "GAZ:00002459"; rdfs:label "United States" . a owl:NamedIndividual, ; ; "GAZ:00002930"; rdfs:label "Uruguay" . a owl:NamedIndividual, ; ; "GAZ:00004979"; rdfs:label "Uzbekistan" . a owl:NamedIndividual, ; ; "GAZ:00002931"; rdfs:label "Venezuela" . a owl:NamedIndividual, ; ; "GAZ:00003756"; rdfs:label "Vietnam" . a owl:NamedIndividual, ; ; "GAZ:00000554"; rdfs:label "Western Africa" . a owl:NamedIndividual, ; ; "GAZ:00001107"; rdfs:label "Zambia" . a owl:NamedIndividual, ; ; "GAZ:00001106"; rdfs:label "Zimbabwe" . a owl:NamedIndividual, ; ; "GAZ:00004942"; rdfs:label "Georgia" . a owl:NamedIndividual; ; "WWF:AA1310", "https://www.worldwildlife.org/ecoregions/aa1310"; rdfs:label "Western Australian Mulga Shrublands Ecoregion"@en . a owl:NamedIndividual; "https://www.worldwildlife.org/biomes/deserts-and-xeric-shrublands"; rdfs:label "Australasia Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1309", "https://www.worldwildlife.org/ecoregions/aa1309"; rdfs:label "Tirari-Sturt Stony Desert Ecoregion" . a owl:NamedIndividual; ; "WWF:AA1308", "https://www.worldwildlife.org/ecoregions/aa1308"; rdfs:label "Simpson Desert Region"@en . a owl:NamedIndividual; ; "WWF:AA1307", "https://www.worldwildlife.org/ecoregions/aa1307"; rdfs:label "Pilbara Shrublands Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1301", "https://www.worldwildlife.org/ecoregions/aa1301"; rdfs:label "Carnarvon Xeric Shrublands Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1302", "https://www.worldwildlife.org/ecoregions/aa1302"; rdfs:label "Central Ranges Xeric Shrub Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1303", "https://www.worldwildlife.org/ecoregions/aa1303"; rdfs:label "Gibson Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1304", "https://www.worldwildlife.org/ecoregions/aa1304"; rdfs:label "The Great Sandy-Tanami Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1305", "https://www.worldwildlife.org/ecoregions/aa1305"; rdfs:label "Great Victoria Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AA1306", "https://www.worldwildlife.org/ecoregions/aa1306"; rdfs:label "Nullarbor Plains Xeric Shrubland Ecoregion"@en . a owl:NamedIndividual; "https://www.worldwildlife.org/biomes/deserts-and-xeric-shrublands"; rdfs:label "Afrotropical Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1322", "https://www.worldwildlife.org/ecoregions/at1322"; rdfs:label "Succulent Karoo Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1321", "https://www.worldwildlife.org/ecoregions/at1321"; rdfs:label "Yemen and Saudi Arabia Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1320", "https://www.worldwildlife.org/ecoregions/at1320"; rdfs:label "Yemen, Saudi Arabia, and Oman Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1319", "https://www.worldwildlife.org/ecoregions/at1319"; rdfs:label "Somali Montane Xeric Woodland Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1318", "https://www.worldwildlife.org/ecoregions/at1318"; rdfs:label "Socotran Archipelago Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1317", "https://www.worldwildlife.org/ecoregions/at1317"; rdfs:label "Red Sea Coastal Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1316", "https://www.worldwildlife.org/ecoregions/at1316"; rdfs:label "Namibian Savanna Woodland Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1315", "https://www.worldwildlife.org/ecoregions/at1315"; rdfs:label "Namib Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1314", "https://www.worldwildlife.org/ecoregions/at1314"; rdfs:label "Nama Karoo Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1313", "https://www.worldwildlife.org/ecoregions/at1313"; rdfs:label "Masai Xeric Grasslands and Shrublands Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1312", "https://www.worldwildlife.org/ecoregions/at1312"; rdfs:label "Madagascar Succulent Woodlands Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1311", "https://www.worldwildlife.org/ecoregions/at1311"; rdfs:label "Madagascar Spiny Thickets Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1310", "https://www.worldwildlife.org/ecoregions/at1310"; rdfs:label "Kaokoveld Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1309", "https://www.worldwildlife.org/ecoregions/at1309"; rdfs:label "Kalahari Xeric Savanna Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1308", "https://www.worldwildlife.org/ecoregions/at1308"; rdfs:label "Ile Europa and Bassas da India Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1307", "https://www.worldwildlife.org/ecoregions/at1307"; rdfs:label "Hobyo Grassland and Shrubland Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1306", "https://www.worldwildlife.org/ecoregions/at1306"; rdfs:label "Oman and United Arab Emirates Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1305", "https://www.worldwildlife.org/ecoregions/at1305"; rdfs:label "Ethiopian Xeric Grasslands and Shrublands Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1304", "https://www.worldwildlife.org/ecoregions/at1304"; rdfs:label "Eritrean Coastal Desert Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1303", "https://www.worldwildlife.org/ecoregions/at1303"; rdfs:label "East Saharan Montane Xeric Woodland Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1302", "https://www.worldwildlife.org/ecoregions/at1302"; rdfs:label "Oman, Yemen, and Saudi Arabia Ecoregion"@en . a owl:NamedIndividual; ; "WWF:AT1301", "https://www.worldwildlife.org/ecoregions/at1301"; rdfs:label "Aldabra Island Xeric Scrub Ecoregion"@en . a owl:NamedIndividual; ; rdfs:label "Indo-Malay Ecoregion"@en . a owl:NamedIndividual; ; , "WWF:IM1304"; "Southern Asia: Western India into Pakistan"; rdfs:label "Thar Desert"@en . a owl:NamedIndividual; ; , "WWF:IM1303"; "Southern Asia: Eastern India and western Pakistan"; rdfs:label "Northwestern Thorn Scrub Forests"@en . a owl:NamedIndividual; ; "Stellar radiation emitted from Sol."; rdfs:label "Solar radiation"@en . a owl:NamedIndividual, ; "example to be eventually removed"@en; rdfs:label "example to be eventually removed"@en . a owl:NamedIndividual, ; "failed exploratory term"@en; "The term was initially used in an attempt to structure part of the ontology, but in retrospect failed to do a good job."@en; "Terms created as placeholders with the expectation of being permanent should instead be deprecated using the \"placeholder removed\" (obo:IAO_0000226) justification."@en; "Person:Alan Ruttenberg"@en; , ; rdfs:label "failed exploratory term"@en . a owl:NamedIndividual, ; "metadata complete"@en; "Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete."@en; rdfs:label "metadata complete"@en . a owl:NamedIndividual, ; "organizational term"@en; "The term was created to ease viewing/sorting terms for development purposes, but will not be included in a release."@en; rdfs:label "organizational term"@en . a owl:NamedIndividual, ; "ready for release"@en; ; "Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking \"ready_for_release\" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed \"ready_for_release\" will also derived from a chain of ancestor classes that are also \"ready_for_release.\""@en; rdfs:label "ready for release"@en . a owl:NamedIndividual, ; "metadata incomplete"@en; "Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors."@en; rdfs:label "metadata incomplete"@en . a owl:NamedIndividual, ; "uncurated"@en; "Nothing done yet beyond assigning a unique class ID and proposing a preferred term."@en; rdfs:label "uncurated"@en . a owl:NamedIndividual, ; "pending final vetting"@en; ; "All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor."@en; rdfs:label "pending final vetting"@en . a owl:NamedIndividual; "Core is an instance of a grouping of terms from an ontology or ontologies. It is used by the ontology to identify main classes."@en; "PERSON: Alan Ruttenberg"@en, "PERSON: Melanie Courtot"@en; ; rdfs:label "obsolete_core"@en; owl:deprecated true . a owl:NamedIndividual, ; "placeholder removed"@en; "The term was created to temporarily stand in for a semantic purpose, but is no longer needed, typically due to another permanent term being defined."@en; "This reason is appropriate for a temporary term even if no permanent term is defined; for example if the need for the term no longer exists. If a permanent (replacement) term is defined, the deprecated term should reference the replacement with IAO:0100001. If no replacement is defined, it may be appropriate to reference alternative terms with oboInOwl:consider."@en; , ; rdfs:label "placeholder removed"@en . a owl:NamedIndividual, ; "terms merged"@en; "The term has been combined with one or more other terms to create a more encompassing (merged) term."@en; "The deprecated term should reference the merged term with obo:IAO_0100001. The replacement term should reference the original terms as sources using obo:RO_0001000 (derives_from). An editor note should explain what were the merged terms and the reason for the merge."@en; , ; rdfs:label "terms merged"@en . a owl:NamedIndividual, ; "term imported"@en; "The term has been replaced by a term imported from another ontology."@en; "This is to be used when the original term has been replaced by a term imported from an other ontology. The deprecated term should reference the imported term with obo:IAO_0100001."@en; , ; rdfs:label "term imported"@en . a owl:NamedIndividual, ; "term split"@en; "The term has been split into two or more new terms."@en; "This is to be used when a term has been split in two or more new terms. An editor note should indicate the reason for the split. The deprecated term should reference the replacement terms with obo:IAO_0100001."@en; , ; rdfs:label "term split"@en . a owl:NamedIndividual, ; "universal"@en; "Hard to give a definition for. Intuitively a \"natural kind\" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents."@en; "Alan Ruttenberg"@en; "A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf"@en; rdfs:label "universal"@en . a owl:NamedIndividual, ; "defined class"@en; "A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal"@en; "\"definitions\", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal."@en; "Alan Ruttenberg"@en; rdfs:label "defined class"@en . a owl:NamedIndividual, ; "named class expression"@en; "A named class expression is a logical expression that is given a name. The name can be used in place of the expression."@en; "named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions"@en; "Alan Ruttenberg"@en; rdfs:label "named class expression"@en . a owl:NamedIndividual, ; "to be replaced with external ontology term"@en; "Terms with this status should eventually replaced with a term from another ontology."@en; "Alan Ruttenberg"@en; "group:OBI"@en; rdfs:label "to be replaced with external ontology term"@en . a owl:NamedIndividual, ; "requires discussion"@en; ; "A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues."@en; "Alan Ruttenberg"@en; "group:OBI"@en; rdfs:label "requires discussion"@en . a owl:NamedIndividual, ; "The term was added to the ontology on the assumption it was in scope, but it turned out later that it was not."@en; "This obsolesence reason should be used conservatively. Typical valid examples in disease ontologies are: unnecessary class grouping; mistaked creation of a disease associated to a phenotype."@en; ; "https://github.com/information-artifact-ontology/ontology-metadata/issues/77"; "https://orcid.org/0000-0001-5208-3432"; , ; rdfs:label "out of scope" . a owl:NamedIndividual, ; "The term was added to the ontology on the assumption it was a valid domain entity, but it turns out the entity does not exist in reality."@en; "This obsolesence reason should be used conservatively. For example: Obsoleting class that describes a breed of cow based on a record in an existing database, that was later retracted as faulty (breed does not exist). Do not use this term to obsolete a historic concept (that was once valid, but not anymore). "@en; ; "https://github.com/information-artifact-ontology/ontology-metadata/issues/136"; "https://orcid.org/0000-0002-4142-7153"; rdfs:label "domain entity does not exist" . a owl:NamedIndividual, ; , , , , ; , , , , , , ; "EGAS00001000642", "GCST90624364"; "A cohort of individuals from 26 populations whose genomes are sequenced and genotyped by the 1000 Genomes Project to catalogue human genetic variation and provide a reference for studies of common disease."; 2504; "1,000 Genomes", "1,000 Genomes Project", "1,000 genomes", "1000 G", "1000 Genome", "1000 Genome Project", "1000 genome", "1000 genome project", "1000-G", "1000G", "1000Genome", "1K Genomes", "thousand genomes"; , ; rdfs:label "1000 Genomes"@en . _:3e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4750478/fullTextXML"; rdfs:comment "individuals were sampled from 26 populations in Africa (AFR), East Asia (EAS), Europe (EUR), South Asia (SAS), and the Americas (AMR)" . _:3e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000642"; "DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly."; "PMID:25236618", "https://ega-archive.org/studies/EGAS00001000642"; rdfs:comment "sequence data from the 1000 Genomes Project" . _:3e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624364"; "Exome sequencing and genome-wide association analyses unveils the genetic predisposition in hydroxychloroquine retinopathy."; "PMID:38548946", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:38548946%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The Chinese Han Southern database from 1000 genomes was used as control group to compare the affected percentage." . _:3e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of individuals from 26 populations whose genomes are sequenced and genotyped by the 1000 Genomes Project to catalogue human genetic variation and provide a reference for studies of common disease."; "PMID:26432245"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:3e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2504; "individuals from 26 populations with reconstructed genomes (final phase 3), 2015"; "PMID:26432245"; rdfs:comment "Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping." . _:3e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "1000 G"; . _:3e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "1000-G"; . _:3e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "1000G"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid285, _:genid-371333f489424440b12a13b9d98ced822608-genid287; , , , , , , ; "GCST000897"; "A cohort of people with Alzheimer disease, mild cognitive impairment and healthy cognition, established in 2006 at centres in Finland, Italy, Greece, Poland, France and the United Kingdom to investigate longitudinal brain changes using magnetic resonance imaging."; 781; "ANM", "AddNeuroMed"; ; rdfs:label "AddNeuroMed Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid285 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid287 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid285; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6804515/fullTextXML"; rdfs:comment "The primary goal of AddNeuroMed has been to assess longitudinal MRI changes in AD, MCI, and healthy controls using image-acquisition protocols compatible with those used in ADNI [17]." . _:3ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid287; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6804515/fullTextXML"; rdfs:comment "The primary goal of AddNeuroMed has been to assess longitudinal MRI changes in AD, MCI, and healthy controls using image-acquisition protocols compatible with those used in ADNI [17]." . _:3eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6804515/fullTextXML"; rdfs:comment "To do so, individuals are followed up and diagnosed as CN/MCI/AD longitudinally at 3- to 12-month intervals at centers across 6 European countries—Finland, Italy, Greece, Poland, France, and the UK" . _:3ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000897"; "Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease."; "PMID:21116278", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5980656/unicode"; rdfs:comment "the AddNeuroMed study" . _:3ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with Alzheimer disease, mild cognitive impairment and healthy cognition, established in 2006 at centres in Finland, Italy, Greece, Poland, France and the United Kingdom to investigate longitudinal brain changes using magnetic resonance imaging."; "PMID:31650008"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:3ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 781; "individuals enrolled at baseline"; "PMID:31650008"; rdfs:comment "The AddNeuroMed study was established in 2006 and enrolled 781 individuals at baseline." . _:3ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANM"; . _:3f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AddNeuroMed"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid295, _:genid-371333f489424440b12a13b9d98ced822608-genid297; , , , , , , ; "GCST002212", "PMID:19336730"; "A randomised trial cohort of adults at high risk of recurrent colorectal adenomas, recruited at centres in the United States, Australia, Canada and Great Britain, comparing celecoxib with placebo for prevention of colorectal adenomas and assessment of treatment safety."; 2035; "APC", "APC Trail", "Adenoma Prevention with Celecoxib"; ; rdfs:label "Adenoma Prevention with Celecoxib trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid295 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid297 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid295; "colorectal adenoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19336730+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Adenoma Prevention with Celecoxib Trial examined the efficacy and safety of the cyclooxygenase (Cox)-2 inhibitor, celecoxib, for sporadic colorectal adenoma prevention in patients at high risk for colorectal cancer." . _:3f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid297; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19336730+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Adenoma Prevention with Celecoxib Trial examined the efficacy and safety of the cyclooxygenase (Cox)-2 inhibitor, celecoxib, for sporadic colorectal adenoma prevention in patients at high risk for colorectal cancer." . _:3f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2976587/unicode"; rdfs:comment "72 in the United States, 8 in Australia, 10 in Canada, and 1 in Great Britain." . _:3f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002212"; "Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study."; "PMID:24084763", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24084763%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "1,406 Caucasian patients (139 advanced adenoma cases and 1,267 controls) from the Adenoma Prevention with Celecoxib (APC) trial were included in a genome-wide association study (GWAS) to identify variants associated with postpolypectomy disease recurrence." . _:3f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19336730"; "Five-year efficacy and safety analysis of the Adenoma Prevention with Celecoxib Trial."; "PMID:19336730", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2976587/unicode"; rdfs:comment "The Adenoma Prevention with Celecoxib (APC) Trial examined the efficacy and safety" . _:3f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of adults at high risk of recurrent colorectal adenomas, recruited at centres in the United States, Australia, Canada and Great Britain, comparing celecoxib with placebo for prevention of colorectal adenomas and assessment of treatment safety."; "PMID:19336730"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:3f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2035; "subjects randomised to placebo or celecoxib"; "PMID:19336730"; rdfs:comment "The trial randomized 2,035 subjects to receive either placebo, celecoxib 200 mg twice daily, or celecoxib 400 mg twice daily." . _:3f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APC"; . _:3f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APC Trail"; . _:3fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Adenoma Prevention with Celecoxib"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid307, _:genid-371333f489424440b12a13b9d98ced822608-genid309; , ; ; "EGAS00001002123", "GCST003877"; "A cohort of adults undergoing elective surgery for aortic valve or ascending aortic disease at Karolinska University Hospital in Stockholm, Sweden, recruited consecutively from 2007 for observational investigation of aortic pathology."; 600; "ASAP"; , ; rdfs:label "Advanced Study of Aortic Pathology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid307 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid309 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid307; "ascending aortic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10961501/fullTextXML"; rdfs:comment "Briefly, the ASAP cohort is a single-centre, observational cohort study of consecutive patients with aortic valve and/or ascending aortic disease undergoing elective open-heart surgery at the Cardiothoracic Surgery Unit, Karolinska University Hospital in Stockholm, Sweden." . _:3fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid309; "aortic valve disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10961501/fullTextXML"; rdfs:comment "Briefly, the ASAP cohort is a single-centre, observational cohort study of consecutive patients with aortic valve and/or ascending aortic disease undergoing elective open-heart surgery at the Cardiothoracic Surgery Unit, Karolinska University Hospital in Stockholm, Sweden." . _:3fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://research.chalmers.se/publication/514203/file/514203_Fulltext.pdf"; rdfs:comment "patients undergoing aortic valve surgery and/or surgery for aortic aneurysm at the Karolinska University Hospital, Stockholm, Sweden" . _:3fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002123"; "Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels."; "PMID:28053049", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5703348/"; rdfs:comment "tested for association with expression levels of nearby genes (defined as located within 500 Mbp in both directions) in a total of 211 human liver samples obtained from the Advanced Study of Aortic Pathology (ASAP) study" . _:3ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003877"; "Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci."; "PMID:27899403", "https://europepmc.org/articles/PMC5253231"; rdfs:comment "eQTL data were also obtained from the ASAP (Advanced Study of Aortic Pathology) data set" . _:4002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults undergoing elective surgery for aortic valve or ascending aortic disease at Karolinska University Hospital in Stockholm, Sweden, recruited consecutively from 2007 for observational investigation of aortic pathology."; "PMID:38508639"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "patients in the original ASAP study population (operated 2007-2013)"; "PMID:40207537"; rdfs:comment "Analysis of the clinical outcomes (aortic events and survival) was performed in 566 of the original 600 patients." . _:4022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASAP"; . a owl:NamedIndividual, ; , , , , , , , ; ; "EGAS00001002482", "GCST90092502"; "A cohort of adults in rural and urban Burkina Faso, Ghana, Kenya and South Africa, established in 2012 and followed longitudinally to investigate genomic, environmental and behavioural influences on body composition and cardiometabolic disease."; 12032; "AWI-Gen", "AWI-Gen, University of the Witwatersrand, Johannesburg", "Africa Wits-INDEPTH Partnership for Genomic Studies"; , , ; rdfs:label "Africa Wits-INDEPTH partnership for Genomics studies"@en; rdfs:seeAlso . _:4032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8844072/fullTextXML"; rdfs:comment "It has over 12,000 participants from four sub-Saharan African countries, Burkina Faso, Ghana, Kenya and South Africa" . _:4042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002482"; "H3Africa - Genomic and Environmental Risk Factors for Cardiometabolic Disease in Africans"; "https://ega-archive.org/studies/EGAS00001002482"; rdfs:comment "The phenotypic data for ~12500 samples of the AWI-Gen Phase 1 Population cross-sectional study of older adults (mostly between 40 and 60 years), men and women. Six study sites in four sub-Saharan African counties including Ghana, Burkina Faso, Kenya and South Africa." . _:4052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90092502"; "Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans."; "PMID:35165267", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8844072/fullTextXML"; rdfs:comment "Africa Wits-INDEPTH Partnership for Genomic Studies cohort" . _:4062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults in rural and urban Burkina Faso, Ghana, Kenya and South Africa, established in 2012 and followed longitudinally to investigate genomic, environmental and behavioural influences on body composition and cardiometabolic disease."; "PMID:39899987"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12032; "participants enrolled in Wave 1 (baseline), 2017"; "PMID:39899987"; rdfs:comment "During Wave 1 (2013–17), 12 032 participants were enrolled." . _:4082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AWI-Gen"; . _:4092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AWI-Gen, University of the Witwatersrand, Johannesburg"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid324; , ; "EGAS00001001017", "GCST90034524"; "A case-control collection of people of European ancestry with severe osteoarthritis and unrelated controls from the United Kingdom, assembled for genome-wide investigation of genetic susceptibility to osteoarthritis."; 7410; 11009; 7410; "arcOGEN"; , ; rdfs:label "Arthritis Research UK Osteoarthritis Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid324 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid324; "osteoarthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "Arthritis Research UK Osteoarthritis Genetics (arcOGEN) is a collection of 7410 unrelated, UK-based individuals of European ancestry with knee and/or hip osteoarthritis from the arcOGEN Consortium (Zeggini et al., 2012)." . _:40b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "Arthritis Research UK Osteoarthritis Genetics (arcOGEN) is a collection of 7410 unrelated, UK-based individuals of European ancestry with knee and/or hip osteoarthritis from the arcOGEN Consortium" . _:40c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001017"; "Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study."; "PMID:22763110", "https://ega-archive.org/studies/EGAS00001001017"; rdfs:comment "The arcOGEN UK nationwide consortium has been funded by the arc to undertake a genome-wide association scan in osteoarthritis. GWA genotyping has been carried out at the Sanger on the illumina 610k array." . _:40d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90034524"; "Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations."; "PMID:34450027", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "Arthritis Research UK Osteoarthritis Genetics" . _:40e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people of European ancestry with severe osteoarthritis and unrelated controls from the United Kingdom, assembled for genome-wide investigation of genetic susceptibility to osteoarthritis."; "PMID:22763110"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:40f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7410; "arcOGEN osteoarthritis cases in the GWAS (controls came from other UK studies), 2012"; "PMID:22763110"; rdfs:comment "We undertook a large genome-wide association study (GWAS) in 7410 unrelated and retrospectively and prospectively selected patients with severe osteoarthritis in the arcOGEN study, 80% of whom had undergone total joint replacement, and 11 009 unrelated controls from the UK." . _:4102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11009; "arcOGEN osteoarthritis cases in the GWAS (controls came from other UK studies), 2012"; "PMID:22763110"; rdfs:comment "We undertook a large genome-wide association study (GWAS) in 7410 unrelated and retrospectively and prospectively selected patients with severe osteoarthritis in the arcOGEN study, 80% of whom had undergone total joint replacement, and 11 009 unrelated controls from the UK." . _:4112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7410; "arcOGEN osteoarthritis cases in the GWAS (controls came from other UK studies), 2012"; "PMID:22763110"; rdfs:comment "We undertook a large genome-wide association study (GWAS) in 7410 unrelated and retrospectively and prospectively selected patients with severe osteoarthritis in the arcOGEN study, 80% of whom had undergone total joint replacement, and 11 009 unrelated controls from the UK." . _:4122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "arcOGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid334; , , ; "PMID:24943594"; "A case-control collection of Asian women with breast cancer and controls in Thailand contributing to investigation of genetic susceptibility to breast cancer."; "The acronym ACP also denotes an Old Order Amish cohort in the GWAS Catalog (e.g. GCST90281184); those studies are not this cohort."@en; 423; 636; "ACP"; rdfs:label "Asian Cancer Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid334 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid334; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4204770/fullTextXML"; rdfs:comment "In the present analysis, we attempted to replicate these associations using the BCAC component of COGS, comprising 53 835 female breast cancer cases and 50 156 controls (Table 1)." . _:4142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://researchmgt.monash.edu/ws/portalfiles/portal/299466323/125481567_oa.pdf"; rdfs:comment "Asian Cancer Project (ACP) Thailand" . _:4152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24943594"; "Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium."; "PMID:24943594", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4204770/unicode"; rdfs:comment "Asian Cancer Project (ACP)" . _:4162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Asian women with breast cancer and controls in Thailand contributing to investigation of genetic susceptibility to breast cancer."; "PMID:24943594"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 423; "cases and controls contributed to the BCAC COGS genotyping (analysed subset), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204770/"; rdfs:comment "Asian Cancer Project (ACP) Thailand 636 423 92 53" . _:4182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 636; "cases and controls contributed to the BCAC COGS genotyping (analysed subset), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204770/"; rdfs:comment "Asian Cancer Project (ACP) Thailand 636 423 92 53" . _:4192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid342, _:genid-371333f489424440b12a13b9d98ced822608-genid344; , ; "GCST002850", "PMID:18762476"; "A randomised trial cohort of men and women aged 50–75 years in central Scotland without clinical cardiovascular disease but with a low ankle brachial index, comparing daily aspirin with placebo during 1998–2008 for prevention of cardiovascular events."; 3350; "AAA"; ; rdfs:label "Aspirin for Asymptomatic Atherosclerosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid342 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid344 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid342; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20197530+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "involving 28,980 men and women aged 50 to 75 years living in central Scotland, free of clinical cardiovascular disease, recruited from a community health registry, and had an ABI screening test. Of those, 3350 with a low ABI (< or = 0.95) were entered into the trial, which was powered to detect a 25% proportional risk reduction in events." . _:41b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid344; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20197530+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "involving 28,980 men and women aged 50 to 75 years living in central Scotland, free of clinical cardiovascular disease, recruited from a community health registry, and had an ABI screening test. Of those, 3350 with a low ABI (< or = 0.95) were entered into the trial, which was powered to detect a 25% proportional risk reduction in events." . _:41c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/20197530"; rdfs:comment "involving 28,980 men and women aged 50 to 75 years living in central Scotland, free of clinical cardiovascular disease" . _:41d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002850"; "GWAS for executive function and processing speed suggests involvement of the CADM2 gene."; "PMID:25869804", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4722802/"; rdfs:comment "AAA: We thank the cohort participants and team members who contributed to this study. Phenotype collection and DNA extraction were supported by the Wellcome Trust, the British Heart Foundation and the Chief Scientist Office of the Scottish Executive. The AAA Trial was performed and the database is maintained by members of the University of Edinburgh Molecular Epidemiology Research Group in the Centre for Population Health Sciences." . _:41e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18762476"; "Low dose aspirin and cognitive function in middle aged to elderly adults: randomised controlled trial."; "PMID:18762476", "https://europepmc.org/articles/PMC2527654"; rdfs:comment "aspirin for asymptomatic atherosclerosis (AAA) trial" . _:41f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of men and women aged 50–75 years in central Scotland without clinical cardiovascular disease but with a low ankle brachial index, comparing daily aspirin with placebo during 1998–2008 for prevention of cardiovascular events."; "PMID:20197530"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3350; "participants randomly assigned to aspirin or placebo"; "PMID:18762476"; rdfs:comment "The 3350 remaining were randomly assigned to aspirin or placebo." . _:4212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid352, _:genid-371333f489424440b12a13b9d98ced822608-genid354; , ; "EGAS00001003107", "GCST002647", "PMID:33784435"; "A biobank of patients undergoing vascular surgery at University Medical Center Utrecht and formerly Antonius Hospital Nieuwegein, with vascular tissue, molecular measurements and at least three years of follow-up to investigate atherosclerotic plaques and subsequent cardiovascular events."; 3500; "AEGS1"; , ; rdfs:label "AtheroExpress"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid352 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid354 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid352; "carotid stenosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13308645/"; rdfs:comment "A data linkage study was performed using patients from the Athero-Express biobank study who underwent CEA in two Dutch tertiary referral hospitals between 2002 and 2020." . _:4232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid354; "atherosclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13308645/"; rdfs:comment "A data linkage study was performed using patients from the Athero-Express biobank study who underwent CEA in two Dutch tertiary referral hospitals between 2002 and 2020." . _:4242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13308645/"; rdfs:comment "AE enrolled patients who underwent CEA (n = 2466 until December 2020) in two tertiary referral hospitals in the Netherlands" . _:4252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003107"; "Genome-wide association study of carotid endarterectomy patients: AEGS1"; "https://ega-archive.org/studies/EGAS00001003107"; rdfs:comment "The results of these GWAS need to be validated in independent cohorts and tested for association with subphenotypes. This was the motivation to undertake GWAS experiments in the Athero-Express." . _:4262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002647"; "Defining the role of common variation in the genomic and biological architecture of adult human height."; "PMID:25282103", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4250049/fullTextXML"; rdfs:comment "New GWAS studies (ASCOT) P.B.M.; (ATCG) P.I.W.d.B., D.W.H., P.J.M.; (Athero-Express Biobank Study) S.W.v.d.L.;" . _:4272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33784435"; "Sclerostin Downregulation Globally by Naturally Occurring Genetic Variants, or Locally in Atherosclerotic Plaques, Does Not Associate With Cardiovascular Events in Humans."; "PMID:33784435", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8360163/unicode"; rdfs:comment "AtheroExpress biobank for the current study" . _:4282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of patients undergoing vascular surgery at University Medical Center Utrecht and formerly Antonius Hospital Nieuwegein, with vascular tissue, molecular measurements and at least three years of follow-up to investigate atherosclerotic plaques and subsequent cardiovascular events."; "https://research.umcutrecht.nl/athero-express/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3500; "patients included in the biobank (stated as a lower bound, 'over 3,500')"; "https://research.umcutrecht.nl/athero-express/"; rdfs:comment "The current number of included AE patients is over 3,500, some 2,400 patients underwent carotid endarterectomy, almost 700 “femoral” patients had surgery, and well over 70 other types of arteries were operated on." . _:42a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AEGS1"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid363, _:genid-371333f489424440b12a13b9d98ced822608-genid365; , ; , , , , , , , , ; "EGAS00001008068", "GCST90134328"; "A cohort of adults aged 45–64 years from Forsyth County, Jackson, Minneapolis suburbs and Washington County in the United States, followed prospectively to investigate atherosclerosis, cardiovascular risk factors and clinical cardiovascular disease."; 15792; "ARIC", "Atherosclerosis Risk In Communities", "Atherosclerosis Risk in Communities"; , ; rdfs:label "Atherosclerosis Risk in Communities Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid363 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid365 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid363; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2646917+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Atherosclerosis Risk in Communities (ARIC) is a new prospective study to investigate the etiology of atherosclerosis and its clinical sequelae and variation in cardiovascular risk factors, medical care, and disease by race, sex, place, and time." . _:42c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid365; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2646917+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Atherosclerosis Risk in Communities (ARIC) is a new prospective study to investigate the etiology of atherosclerosis and its clinical sequelae and variation in cardiovascular risk factors, medical care, and disease by race, sex, place, and time." . _:42d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nhlbi.nih.gov/research/atherosclerosis"; rdfs:comment "the clinical outcomes from four U.S. communities." . _:42e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008068"; "Detection of Cancers Three Years prior to Diagnosis Using Plasma Cell-Free DNA."; "PMID:40402478", "https://ega-archive.org/studies/EGAS00001008068"; rdfs:comment "We here describe such an evaluation, performed on prospectively collected plasma samples from the Atherosclerosis Risk in Communities (ARIC) study, including 26 participants diagnosed with cancer and 26 matched controls." . _:42f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134328"; "A Genome-Wide Association Study of Prediabetes Status Change."; "PMID:35769078", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9234217/fullTextXML"; rdfs:comment "among prediabetes participants of the Atherosclerosis Risk in Communities Study" . _:4302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 45–64 years from Forsyth County, Jackson, Minneapolis suburbs and Washington County in the United States, followed prospectively to investigate atherosclerosis, cardiovascular risk factors and clinical cardiovascular disease."; "PMID:2646917"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15792; "Black and White participants recruited from the 4 communities"; "PMID:35769078"; rdfs:comment "The ARIC is a population-based epidemiologic study among a total of 15,792 Black and White participants recruited from 4 communities (17)." . _:4322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid373; , ; "GCST90091054"; "A consortium of academic medical centres conducting clinical investigations in people with atopic dermatitis to understand skin immunity and susceptibility to bacterial and viral infections and to develop approaches to prevent infectious complications."; 2862; "ADRN"; ; rdfs:label "Atopic Dermatitis Research Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid373 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid373; "atopic dermatitis"; "https://clinicaltrials.gov/api/v2/studies/NCT00550316"; rdfs:comment "The purpose of this multi-center, clinical registry study is to determine genetic markers associated with susceptibility of AD patients to infections and to also serve as a potential participant database for future studies." . _:4342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00550316"; rdfs:comment "United States" . _:4352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091054"; "Multiethnic genome-wide and HLA association study of total serum IgE level."; "PMID:34536413", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8665111/unicode"; rdfs:comment "Atopic Dermatitis Research Network (ADRN)" . _:4362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of academic medical centres conducting clinical investigations in people with atopic dermatitis to understand skin immunity and susceptibility to bacterial and viral infections and to develop approaches to prevent infectious complications."; "https://www.nationaljewish.org/research-science/clinical-translational-research/atopic-dermatitis-research-network-adrn/overview"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2862; "participants with atopic dermatitis enrolled in the ADRN registry at 9 academic centres"; "PMID:37182563"; rdfs:comment "Participants with AD (N = 2862) whose disease was categorized as mild (11.6%), moderate (58.0%), or severe (30.4%) based on Rajka-Langeland scoring were enrolled." . _:4382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADRN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid380; , ; ; "GCST000802"; "A case-control collection of women with epithelial ovarian cancer and population controls in Australia, with cases recruited through the New South Wales and Victorian cancer registries alongside the Australian Ovarian Cancer Study to investigate ovarian-cancer risk."; "The acronym ACS also denotes Amsterdam Cohort Studies on HIV infection and AIDS (COHO:0000971); this term is Australia Cancer Study."@en; "ACS"; ; rdfs:label "Australia Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid380 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid380; "epithelial ovarian cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2666187/unicode"; rdfs:comment "Additional case women missed at the major treatment centers were identified through cancer registries and, with the treating doctor’s permission, invited to participate (recruitment through the New South Wales and Victorian Cancer Registries was conducted in parallel under a separately funded study: the Australian Cancer Study)." . _:43a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2666187/unicode"; rdfs:comment "recruitment through the New South Wales and Victorian Cancer Registries was conducted in parallel under a separately funded study: the Australian Cancer Study" . _:43b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000802"; "A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24."; "PMID:20852632", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=3020231"; rdfs:comment "the Australian Cancer Study (ACS) Management Group" . _:43c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of women with epithelial ovarian cancer and population controls in Australia, with cases recruited through the New South Wales and Victorian cancer registries alongside the Australian Ovarian Cancer Study to investigate ovarian-cancer risk."; "PMID:18086758"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:43d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid386; , ; , ; "EGAS00001004248", "GCST003328"; "A case-control collection of Australian women aged 18–79 years with newly diagnosed epithelial ovarian cancer and population controls, recruited during 2002–2006 to investigate ovarian-cancer susceptibility."; 1859; 1065; "AOCS"; , ; rdfs:label "Australian Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid386 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid386; "epithelial ovarian cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2666187/unicode"; rdfs:comment "The second study was a national population-based case-control study of ovarian cancer, the AOCS." . _:43f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10711013/fullTextXML"; rdfs:comment "AOCS gratefully acknowledges the cooperation of the participating institutions in Australia" . _:4402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004248"; "Whole-exome sequencing of ovarian clear cell carcinoma in clinical outliers"; "https://ega-archive.org/studies/EGAS00001004248"; rdfs:comment "Whole-exome sequencing dataset for the Australian Ovarian Cancer Study" . _:4412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003328"; "Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer."; "PMID:26840454", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4872719/fullTextXML"; rdfs:comment "In Phase 1, we conducted a genome-wide scan on germline DNA from 385 patients from the Australian Ovarian Cancer Study (AOCS, n = 183), the Mayo Clinic (MAYO, n = 68) and The Cancer Genome Atlas (TCGA, n = 134) and performed a meta-analysis summarizing results from these cohorts (refer to Methods for details of genotyping and imputation)." . _:4422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Australian women aged 18–79 years with newly diagnosed epithelial ovarian cancer and population controls, recruited during 2002–2006 to investigate ovarian-cancer susceptibility."; "PMID:18086758"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1859; "women with invasive or borderline ovarian tumours among 2,456 consenting cases (2002-2006); controls enrolled"; "http://www.aocstudy.org/background.html"; rdfs:comment "Between 2002 and 2006, a total of 2,456 women with suspected epithelial ovarian cancer from all Australian states consented to take part in the study, of whom 1859 had invasive or borderline ovarian tumours." . _:4442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1065; "women with invasive or borderline ovarian tumours among 2,456 consenting cases (2002-2006); controls enrolled"; "http://www.aocstudy.org/background.html"; rdfs:comment "Between 2002 and 2006, a total of 2,456 women with suspected epithelial ovarian cancer from all Australian states consented to take part in the study, of whom 1859 had invasive or borderline ovarian tumours." . _:4452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AOCS"; . a owl:NamedIndividual, ; , ; , ; "GCST000289"; "A registry of volunteer twin pairs and higher-order multiples in Australia, enrolling members since the late 1970s to support health, medical and scientific research."; 75000; "ATR"; ; rdfs:label "Australian Twin Registry"@en . _:4462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/23200298"; rdfs:comment "The Australian Twin Registry (ATR) is a national volunteer resource of twin pairs and higher-order multiples willing to consider participating in health, medical, and scientific research" . _:4472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000289"; "Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts."; "PMID:19060911", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2687074/unicode"; rdfs:comment "Australian twin registry" . _:4482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of volunteer twin pairs and higher-order multiples in Australia, enrolling members since the late 1970s to support health, medical and scientific research."; "PMID:23200298"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 75000; "twin members of Twins Research Australia (the renamed Australian Twin Registry), current website"; "https://www.twins.org.au/"; rdfs:comment "We are non-profit with our research made possible through the incredible volunteer efforts of our 75,000 twin members Australia-wide." . _:44a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATR"; . a owl:NamedIndividual, ; ; , ; , , , , ; "EGAS00001005273", "GCST90095158", "PXD037682"; "A birth cohort of children and their families recruited through pregnancies in the Bristol area of the United Kingdom during 1990–1992, with later recruitment of eligible children, followed prospectively to investigate genetic and environmental influences on health and development across the life course."; 14775; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ALSPAC"; "ALSPAC", "Avon Longitudinal Study of Parents and their Children"; , , , ; rdfs:label "Avon Longitudinal Study of Parents and Children"@en; rdfs:seeAlso . _:44b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001005273"; rdfs:comment "Avon Longitudinal Study of Parents and Children (ALSPAC)recruited 14,775 babies of predominantly White ethnicity in the Avon county of south-west England" . _:44c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005273"; "Exome_sequencing_of_UK_Birth_Cohorts___Avon_Longitudinal_Study_of_Parents_and_Children"; "https://ega-archive.org/studies/EGAS00001005273"; rdfs:comment "Avon Longitudinal Study of Parents and Children" . _:44d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095158"; "Genetic Analyses of Common Infections in the Avon Longitudinal Study of Parents and Children Cohort."; "PMID:34804013", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34804013%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Children from the longitudinal birth cohort, the Avon Longitudinal Study of Parents and Children, had 14 antibodies measured in plasma at age 7: Alpha-casein protein, beta-casein protein, cytomegalovirus, Epstein-Barr virus, feline herpes virus, Helicobacter pylori, herpes simplex virus 1, influenza virus subtype H1N1, influenza virus subtype H3N2, measles virus, Saccharomyces cerevisiae, Theiler's virus, Toxoplasma gondii, and SAG1 protein domain, a surface antigen of Toxoplasma gondii measured for greater precision." . _:44e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD037682"; "Functional proteomic profiling links deficient DNA clearance with increased mortality in individuals with severe COVID-19 pneumonia."; "PMID:36462503", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9671605/fullTextXML"; rdfs:comment "Plasmas of healthy donors with and without inflammation signatures were selected from participants in the Avon Longitudinal Study of Parents and Children (ALSPAC)" . _:44f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of children and their families recruited through pregnancies in the Bristol area of the United Kingdom during 1990–1992, with later recruitment of eligible children, followed prospectively to investigate genetic and environmental influences on health and development across the life course."; "PMID:22507743"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14775; "live-born index children in the enrolled sample (from 15 247 enrolled pregnancies, by age 18), 2012"; "PMID:22507743"; rdfs:comment "The ‘Children of the 90s’ ‘enrolled sample’ consists of 14 775 (75.7% of the 19 600 eligible live births) live-born children from the 15 247 pregnancies (15 458 foetuses) where an individual, either the mother/primary caregiver or the child, has provided data." . _:4512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALSPAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid407; , , , ; "EGAS00001007383", "GCST003798"; "A project combining successive Berlin–Frankfurt–Münster treatment trials in children and adolescents with acute lymphoblastic leukaemia at centres in Germany, Austria and Switzerland to evaluate risk-adapted treatment, survival and toxicity."; 6609; "BFM"; , ; rdfs:label "Berlin-Frankfurt-Münster trials"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid407 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid407; "acute lymphoblastic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20010625+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1981 and 2000, 6609 children (<18 years of age) were treated in five consecutive trials of the Berlin-Frankfurt-Münster (BFM) study group for childhood acute lymphoblastic leukemia (ALL)." . _:4532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pubmed.ncbi.nlm.nih.gov/23700060/"; rdfs:comment "Patients were treated in up to 82 centers in Germany, Austria, and Switzerland." . _:4542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007383"; "Recurrent DNMT3B rearrangements are associated with unfavorable outcome in dicentric (9;20)-positive pediatric BCP-ALL."; "PMID:37845283", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10681884/fullTextXML"; rdfs:comment "Survival analyses were restricted to patients enrolled in the AIEOP-BFM ALL 2000 and 2009 studies, because these patients had sufficient follow-up time" . _:4552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003798"; "A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1."; "PMID:27694927", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=5336191"; rdfs:comment "ascertained through the Berlin–Frankfurt–Münster (BFM) trials (1993–2004)" . _:4562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining successive Berlin–Frankfurt–Münster treatment trials in children and adolescents with acute lymphoblastic leukaemia at centres in Germany, Austria and Switzerland to evaluate risk-adapted treatment, survival and toxicity."; "PMID:20010625"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6609; "children treated in the five consecutive ALL-BFM trials 1981-2000 (pooled long-term analysis)"; "PMID:20010625"; rdfs:comment "Between 1981 and 2000, 6609 children (<18 years of age) were treated in five consecutive trials of the Berlin-Frankfurt-Münster (BFM) study group for childhood acute lymphoblastic leukemia (ALL)." . _:4582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BFM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid415; , ; "EGAS00001004358", "GCST008217"; "A cohort of patients with newly diagnosed bladder cancer in the West Midlands, United Kingdom, recruited from December 2005 and followed prospectively to investigate lifestyle factors, molecular predictors, recurrence, progression and quality of life."; 1550; "BCPP"; , ; rdfs:label "Bladder Cancer Prognosis Programme"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid415 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid415; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19751260+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The BCPP is a prospective longitudinal cohort study of all patients with newly diagnosed bladder cancer within the West Midlands (UK), investigating the influence of lifestyle factors on recurrence and progression, health-related quality of life, the predictive effect of a panel of molecular markers on recurrence or progression, and the establishment of Europe's largest comprehensive bladder cancer bio-repository." . _:45a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9164468/fullTextXML"; rdfs:comment "Patients were recruited consecutively from 2005 to 2010 from ten hospitals in the West Midlands (UK)" . _:45b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004358"; "Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes."; "PMID:35655252", "https://europepmc.org/articles/PMC9164468"; rdfs:comment "as part of the Bladder Cancer Prognosis Programme (BCPP)" . _:45c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST008217"; "Genome-wide Association Study for Tumour Stage, Grade, Size, and Age at Diagnosis of Non-muscle-invasive Bladder Cancer."; "PMID:31277774", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31277774%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "A sample of 653 NMIBC cases comes from the Bladder Cancer Prognosis Programme." . _:45d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with newly diagnosed bladder cancer in the West Midlands, United Kingdom, recruited from December 2005 and followed prospectively to investigate lifestyle factors, molecular predictors, recurrence, progression and quality of life."; "PMID:19751260"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:45e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1550; "patients enrolled December 2005-October 2011 on cystoscopic findings suggestive of bladder cancer"; "PMID:30112441"; rdfs:comment "Briefly, during the enrolment period (December 2005–October 2011), a total of 1,550 male and female patients (age ≥18 years) were enrolled based on abnormal cystoscopic findings suggestive of bladder cancer." . _:45f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid423; , ; "EGAS00001004112"; "A cohort of 45 babies from Rio Grande do Norte, Brazil, whose exomes provide population-specific reference variants for genetic investigation and diagnosis of rare diseases."; 45; "Brazil"; ; rdfs:label "Brazilian Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid423; "congenital microcephaly"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7578642/fullTextXML"; rdfs:comment "The sample comprised 45 babies (26 males aged mean ± SD 25.50 ± 7.17 months; 19 females aged mean ± SD 24.79 ± 6.73 months), 44 with confirmed Zika-associated congenital microcephaly and one baby with familial congenital microcephaly." . _:4612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001004112"; rdfs:comment "sequencing the exomes of 45 babies from the State of Rio Grande do Nord in Brazil." . _:4622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004112"; "Reference Exome Data for a Northern Brazilian population"; "https://ega-archive.org/studies/EGAS00001004112"; rdfs:comment "identified in at least one individual in this Brazilian Cohort" . _:4632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 45 babies from Rio Grande do Norte, Brazil, whose exomes provide population-specific reference variants for genetic investigation and diagnosis of rare diseases."; "PMID:33087711"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 45; "babies whose exomes were sequenced"; "PMID:33087711"; rdfs:comment "Here we provide a catalogue of variants called after sequencing the exomes of 45 babies from Rio Grande do Nord in Brazil." . _:4652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Brazil"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid430; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; ; "EGAS50000001477", "GCST90029042"; "A consortium of breast-cancer studies that pools participant-level tumour characteristics and epidemiological data to investigate breast-cancer risk factors and differences in the causes of tumour subtypes."; 35568; 35568; "BCAC"; , ; rdfs:label "Breast Cancer Association Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid430 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid430; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21191117+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We pooled tumor marker and epidemiological risk factor data from 35,568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium." . _:4672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5601244/unicode"; rdfs:comment "Cancer Prevention Study II" . _:4682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Nurses Health Study (56)" . _:4692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5601244/unicode"; rdfs:comment "Melbourne Collaborative Cohort Study" . _:46a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "CTS, NBCS and SKKDKFZS are studies in BCAC but genotyped as part of the triple negative consortium (TNBCC)." . _:46b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:46c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5601244/unicode"; rdfs:comment "Study of Epidemiology and Risk Factors in Cancer Heredity" . _:46d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:46e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:46f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:4702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:4712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "Individual level data were pooled from 26 epidemiological studies, including eight population-based case–control studies, 13 nested studies from prospective cohort studies and five studies with mixed design from the Breast Cancer Association Consortium (BCAC) (Table S1)." . _:4722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "Individual level data were pooled from 26 epidemiological studies, including eight population-based case–control studies, 13 nested studies from prospective cohort studies and five studies with mixed design from the Breast Cancer Association Consortium (BCAC) (Table S1)." . _:4732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "Individual level data were pooled from 26 epidemiological studies, including eight population-based case–control studies, 13 nested studies from prospective cohort studies and five studies with mixed design from the Breast Cancer Association Consortium (BCAC) (Table S1)." . _:4742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:4752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:4762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837703/fullTextXML"; rdfs:comment "KARMA is part of the Breast Cancer Association Consortium." . _:4792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:47a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:47b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5798588/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 1)." . _:47c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "Individual level data were pooled from 26 epidemiological studies, including eight population-based case–control studies, 13 nested studies from prospective cohort studies and five studies with mixed design from the Breast Cancer Association Consortium (BCAC) (Table S1)." . _:47d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:47e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:47f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41588-020-0609-2"; rdfs:comment "BCAC DACC approval is required to access data from the 2SISTER, ABCS, ABCS-F, ABCTB, BBCC, BCEES, BCFR-NY, BCFR-PA, BCINIS, BIGGS, BREOGAN, BSUCH, CECILE, CGPS, CNIO-BCS, CPSII, CTS, DIETCOMPLYF, ESTHER, FHRISK, FHRISK, GENICA, GEPARSIXTO, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KARMA, KBCP, KCONFAB/AOCS, LMBC, MABCS, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NBCS, NCBCS, OBCS, ORIGO, PKARMA, PREFACE, PROCAS, RBCS, SEARCH, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS, UKOPS and USRT studies (Supplementary Table 1)." . _:4802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909613/fullTextXML"; rdfs:comment "Therefore, we were prompted to reanalyze two Swedish breast cancer cohorts—KARMA and KARBAC—consisting of 3200 invasive breast cancer cases and 5021 controls previously analyzed within the BCAC consortium [8,9,10,16,17,18,19]." . _:4812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41588-020-0609-2"; rdfs:comment "BCAC DACC approval is required to access data from the 2SISTER, ABCS, ABCS-F, ABCTB, BBCC, BCEES, BCFR-NY, BCFR-PA, BCINIS, BIGGS, BREOGAN, BSUCH, CECILE, CGPS, CNIO-BCS, CPSII, CTS, DIETCOMPLYF, ESTHER, FHRISK, FHRISK, GENICA, GEPARSIXTO, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KARMA, KBCP, KCONFAB/AOCS, LMBC, MABCS, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NBCS, NCBCS, OBCS, ORIGO, PKARMA, PREFACE, PROCAS, RBCS, SEARCH, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS, UKOPS and USRT studies (Supplementary Table 1)." . _:4822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41588-020-0609-2"; rdfs:comment "BCAC DACC approval is required to access data from the 2SISTER, ABCS, ABCS-F, ABCTB, BBCC, BCEES, BCFR-NY, BCFR-PA, BCINIS, BIGGS, BREOGAN, BSUCH, CECILE, CGPS, CNIO-BCS, CPSII, CTS, DIETCOMPLYF, ESTHER, FHRISK, FHRISK, GENICA, GEPARSIXTO, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KARMA, KBCP, KCONFAB/AOCS, LMBC, MABCS, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NBCS, NCBCS, OBCS, ORIGO, PKARMA, PREFACE, PROCAS, RBCS, SEARCH, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS, UKOPS and USRT studies (Supplementary Table 1)." . _:4872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10544431/fullTextXML"; rdfs:comment "We used individual-level data from two previous studies contributing to the Breast Cancer Association Consortium (BCAC): The Colombian Breast Cancer Case–Control (COL-BCCC) study as described in [23, 39] and the Mexican Cancér de Mama (CAMA) study as described in [22, 40–42]." . _:4892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM2_ESM.xlsx"; rdfs:comment "Crete Cancer Genetics Program CCGP Canadian Breast Cancer Study CBCS Breast Cancer Study of the University of Heidelberg BSUCH Breast Oncology Galicia Network BREOGAN Prospective cohorts: nested case-control studies Breast and Prostate Cancer Cohort Consortium BPC3 Ireland Breast Cancer in Galway Genetic Study BIGGS Israel Breast Cancer in Northern Israel Study BCINIS Utah site of the Breast Cancer Family Registry BCFR-UT Philadelphia site of the Breast Cancer Family Registry BCFR-PA New York site of the Breast Cancer Family Registry BCFR-NY USA, Canada, Australia Breast Cancer Family Registry BCFR Breast Cancer Employment and Environment Study BCEES British Breast Cancer Study BBCS Bavarian Breast Cancer Cases and Controls BBCC Australian Breast Cancer Tissue Bank ABCTB Amsterdam Breast Cancer Study ABCS Australian Breast Cancer Family Study ABCFS Cases Controls GWASs iCOGS OncoArray Study design Country Study Name Acronym Supplementary Table 1: BCAC studies contributing data on estrogen receptor negative cases and controls, by genotyping intiative†" . _:48a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41588-020-0609-2"; rdfs:comment "BCAC DACC approval is required to access data from the 2SISTER, ABCS, ABCS-F, ABCTB, BBCC, BCEES, BCFR-NY, BCFR-PA, BCINIS, BIGGS, BREOGAN, BSUCH, CECILE, CGPS, CNIO-BCS, CPSII, CTS, DIETCOMPLYF, ESTHER, FHRISK, FHRISK, GENICA, GEPARSIXTO, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KARMA, KBCP, KCONFAB/AOCS, LMBC, MABCS, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NBCS, NCBCS, OBCS, ORIGO, PKARMA, PREFACE, PROCAS, RBCS, SEARCH, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS, UKOPS and USRT studies (Supplementary Table 1)." . _:48b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:48c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:48d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "FBCS ICR Familial Breast Cancer Study" . _:48e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:48f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "HKBCS Hong KongBreast Cancer Study8,9 Hospital-basedcase-control study China" . _:4942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Hannover-Minsk Breast Cancer Study HMBCS Belarus" . _:4952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12580823/fullTextXML"; rdfs:comment "The ICICLE and GLACIER studies are part of the Breast Cancer Association Consortium." . _:4972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/fullTextXML"; rdfs:comment "G.C.-T. led the contribution of kConFab cases and AOCS controls to BCAC, J.Beesley and X.C. performed iPLEX genotyping for several of the BCAC sites." . _:4992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15046-w/MediaObjects/41467_2020_15046_MOESM1_ESM.pdf"; rdfs:comment "The studies included in the BCAC that contributed individual-level data 139 to the Asian-specific meta-analysis were listed as Study, Country and BCAC project(s): 140 ACP, Thailand, Oncoarray and iCOGS; CBCS, Canada, Oncoarray; HERPACC, Japan, 141 Oncoarray and iCOGS; HKHBCFR, Hong Kong, Oncoarray; KOHBRA, Korea, 142 Oncoarray" . _:49a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15046-w/MediaObjects/41467_2020_15046_MOESM1_ESM.pdf"; rdfs:comment "The studies included in the BCAC that contributed individual-level data 139 to the Asian-specific meta-analysis were listed as Study, Country and BCAC project(s): 140 ACP, Thailand, Oncoarray and iCOGS; CBCS, Canada, Oncoarray; HERPACC, Japan, 141 Oncoarray and iCOGS; HKHBCFR, Hong Kong, Oncoarray; KOHBRA, Korea, 142 Oncoarray; LAABC, USA, iCOGS" . _:49b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:49c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:49d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:49e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "NGOBCS Nagano Breast CancerStudy11 Hospital-basedcase-control study Japan" . _:49f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41588-020-0609-2"; rdfs:comment "BCAC DACC approval is required to access data from the 2SISTER, ABCS, ABCS-F, ABCTB, BBCC, BCEES, BCFR-NY, BCFR-PA, BCINIS, BIGGS, BREOGAN, BSUCH, CECILE, CGPS, CNIO-BCS, CPSII, CTS, DIETCOMPLYF, ESTHER, FHRISK, FHRISK, GENICA, GEPARSIXTO, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KARMA, KBCP, KCONFAB/AOCS, LMBC, MABCS, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NBCS, NCBCS, OBCS, ORIGO, PKARMA, PREFACE, PROCAS, RBCS, SEARCH, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS, UKOPS and USRT studies (Supplementary Table 1)." . _:4a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM2_ESM.xlsx"; rdfs:comment "SBCS | Sheffield Breast Cancer Study | UK | Case-control study | | | | 848 | 98" . _:4a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8075208/fullTextXML"; rdfs:comment "SGBCC contributed to BCAC and the Asian Breast Cancer Consortium" . _:4a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "CTS, NBCS and SKKDKFZS are studies in BCAC but genotyped as part of the triple negative consortium (TNBCC)." . _:4a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:4ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4204770/unicode"; rdfs:comment "Taiwanese Breast Cancer Study (TWBCS) Taiwan 236 889 460 204" . _:4ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the following studies ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UTAH, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HUBCS, KARBAC, KBCP, LMBC, MARIE, MBCSG, MCBCS, MISS, MMHS, MSKCC, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, PBCS, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS (see Supplementary Table 2—for a list of all studies)." . _:4ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6565553/"; rdfs:comment "TBCS IARC‐Thai Breast Cancer Study Hospital‐based case‐control study Thailand 138 253 6.9 11.7 — — — —" . _:4ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001477"; "BCAC TIIC Data"; "https://ega-archive.org/studies/EGAS50000001477"; rdfs:comment "17,265 breast cancer patients of European descent, from studies participating in the Breast Cancer Association Consortium" . _:4af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90029042"; "Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment."; "PMID:34407845", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34407845%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years." . _:4b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of breast-cancer studies that pools participant-level tumour characteristics and epidemiological data to investigate breast-cancer risk factors and differences in the causes of tumour subtypes."; "PMID:21191117"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 35568; "invasive breast cancer cases from 34 member studies pooled in the 2011 risk-factor and tumour-subtype analysis"; "PMID:21191117"; rdfs:comment "We pooled tumor marker and epidemiological risk factor data from 35568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium." . _:4b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 35568; "invasive breast cancer cases from 34 member studies pooled in the 2011 risk-factor and tumour-subtype analysis"; "PMID:21191117"; rdfs:comment "We pooled tumor marker and epidemiological risk factor data from 35568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium." . _:4b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid509, _:genid-371333f489424440b12a13b9d98ced822608-genid511; , ; "EGAS00001004453", "GCST001361"; "A cohort of residents of Bruneck, Italy, sampled by age and sex in 1990 and followed through repeated examinations to investigate atherosclerosis, cardiovascular disease and other age-related disorders."; 933; "BRUNECK"; , ; rdfs:label "Bruneck study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid509 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid511 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid509; "cardiovascular disease"; "https://epicenter.i-med.ac.at/research/studies/proof-athero/bruneck/"; rdfs:comment "The initial principal aim of the study was to investigate atherosclerosis and cardiovascular disease, but it quickly extended its focus to many age-dependent diseases such as neurological diseases, disorders of the bone, and cancer." . _:4b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid511; "atherosclerosis"; "https://epicenter.i-med.ac.at/research/studies/proof-athero/bruneck/"; rdfs:comment "The initial principal aim of the study was to investigate atherosclerosis and cardiovascular disease, but it quickly extended its focus to many age-dependent diseases such as neurological diseases, disorders of the bone, and cancer." . _:4b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001004453"; rdfs:comment "Here, we study 304 fecal samples collected from the elderly subjects in Italy." . _:4b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004453"; "Elderly microbiome from the Bruneck study"; "https://ega-archive.org/studies/EGAS00001004453"; rdfs:comment "Elderly microbiome from the Bruneck study" . _:4b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001361"; "Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies."; "PMID:22199011", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3303225/"; rdfs:comment "The replication studies included 5 population-based studies and 3 clinically-based studies including a total of over 16,000 participants: the Bruneck Study (n=786)" . _:4b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of residents of Bruneck, Italy, sampled by age and sex in 1990 and followed through repeated examinations to investigate atherosclerosis, cardiovascular disease and other age-related disorders."; "https://epicenter.i-med.ac.at/research/studies/proof-athero/bruneck/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 933; "women and men examined at the 1990 baseline (of 1,000 invited)"; "PMID:32172649"; rdfs:comment "A total of 933 women and men participated in the baseline examination in 1990 (participation rate, 93.3%); 703 of 764 individuals being alive in 2000 participated in the 2000 re‐evaluation (participation rate, 92.0%)." . _:4bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRUNECK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid519; , , , , ; , , ; "EGAS00001007563", "GCST90020034"; "A consortium of institutional cancer trial cohorts, established in 1956 as the Acute Leukemia Group B, that coordinates trials of treatments for adult solid tumours and haematological malignancies to improve patient outcomes and investigate malignant disease biology."; "CALGB"; , ; rdfs:label "Cancer and Leukemia Group B"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid519 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid519; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16740784+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the ensuing 50 years, the Cancer and Leukemia Group B has expanded to national and even international membership, and its research programs have expanded to include all of the common adult solid tumors and hematologic malignancies in a multidisciplinary effort to improve the outcomes for patients with cancer and to better understand the biology of malignant disease." . _:4bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007563"; rdfs:comment "two phase III trials, namely NeoALTTO and CALGB 40601" . _:4be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2917317/"; rdfs:comment "These encouraging data led Cancer and Leukemia Group B (CALGB) to conduct a double-blind, placebo-controlled, randomized phase III trial of gemcitabine/bevacizumab versus gemcitabine/placebo in advanced pancreatic cancer patients." . _:4bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3383121/"; rdfs:comment "The study was designed by the CALGB, endorsed by the ECOG, and approved by the NCI Cancer Therapy Evaluation Program (CTEP)." . _:4c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5012690/"; rdfs:comment "We conducted Cancer and Leukemia Group B (CALGB, now known as Alliance) 40503, a randomized phase III trial, to determine whether bevacizumab can prolong progression-free survival (PFS) when added to first-line ET with letrozole for hormone receptor–positive advanced-stage breast cancer." . _:4c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4500830/"; rdfs:comment "The Cancer and Leukemia Group B (CALGB) 40502 (Paclitaxel, Nab-Paclitaxel, or Ixabepilone With or Without Bevacizumab in Treating Patients With Stage IIIC or Stage IV Breast Cancer) trial was a three-arm randomized phase III trial comparing paclitaxel once per week to nanoparticle albumin-bound nab-paclitaxel once per week and to ixabepilone as first-line chemotherapy with bevacizumab for locally recurrent or metastatic BC." . _:4c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://academic.oup.com/jncics/article/4/1/pkz078/5588850?searchresult=1"; rdfs:comment "Patients were recruited from 508 study sites in the United States and Canada." . _:4c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007563"; "Immunological and clinicopathological features predict HER2-positive breast cancer prognosis in the neoadjuvant NeoALTTO and CALGB 40601 randomized trials."; "PMID:37923752", "https://ega-archive.org/studies/EGAS00001007563"; rdfs:comment "we investigated the complexity of B and T cell receptor (BCR and TCR) repertoires, reflecting antigen-specific immune response, in the context of two phase III trials, namely NeoALTTO and CALGB 40601" . _:4c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90020034"; "Genome-wide association studies of survival in 1520 cancer patients treated with bevacizumab-containing regimens."; "PMID:34528705", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8627468/unicode"; rdfs:comment "The phase III clinical trials included in this study are from the Cancer and Leukemia Group B" . _:4c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of institutional cancer trial cohorts, established in 1956 as the Acute Leukemia Group B, that coordinates trials of treatments for adult solid tumours and haematological malignancies to improve patient outcomes and investigate malignant disease biology."; "PMID:16740784"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CALGB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid531; , , , , , , , , , , , , , , , , , , ; "EGAS00001004001", "GCST90435239", "MTBLS2806", "PXD010437"; "A project combining genomic characterisation of 33 cancer types through collaboration between the United States National Cancer Institute and National Human Genome Research Institute to map cancer-associated molecular changes and support prevention, diagnosis and treatment."; 11160; "TCGA", "The Cancer Genomic Atlas"; , , , ; rdfs:label "Cancer Genome Atlas"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid531 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid531; "cancer"; "https://www.cancer.gov/ccg/research/genome-sequencing"; rdfs:comment "TCGA is a collaboration between the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) that has generated comprehensive, multi-dimensional maps of the key genomic changes in 33 types of cancer." . _:4c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7463948/"; rdfs:comment "the geographic collection of samples spanned 11 countries" . _:4c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004001"; "Expression of let-7i and miR-192 is associated with resistance to cisplatin-based chemoradiotherapy in patients with larynx and hypopharynx cancer."; "PMID:32585557", "https://ega-archive.org/studies/EGAS00001004001"; rdfs:comment "normal mucosa miRNA expression data from The Cancer Genome Atlas database" . _:4ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435239"; "Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study."; "PMID:38836758", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11210444/fullTextXML"; rdfs:comment "Existing datasets of women with breast cancer from The Cancer Genome Atlas (TCGA; ref. 1), Molecular Taxonomy of Breast Cancer International Consortium (METABRIC; ref. 23), and the Welcome Trust Sanger Institute (24) were used for the discovery GxM GWAS." . _:4cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS2806"; "SNAP25 Inhibits Glioma Progression by Regulating Synapse Plasticity via GLS-Mediated Glutaminolysis."; "PMID:34490096", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS2806"; rdfs:comment "Using RNA sequencing data from The Cancer Genome Atlas (TCGA) database, the differential synaptosis-related genes between LGG and GBM were identified as highly correlated." . _:4cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD010437"; "Orthogonal Proteomic Platforms and Their Implications for the Stable Classification of High-Grade Serous Ovarian Cancer Subtypes."; "PMID:32534439", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD010437"; rdfs:comment "The tumor specimens were obtained through The Cancer Genome Atlas (TCGA) Biospecimen Core Resource, and they were previously genomically characterized (Cancer Genome Atlas Research Network, Nature 2011)." . _:4cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining genomic characterisation of 33 cancer types through collaboration between the United States National Cancer Institute and National Human Genome Research Institute to map cancer-associated molecular changes and support prevention, diagnosis and treatment."; "https://www.cancer.gov/ccg/research/genome-sequencing"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11160; "patients whose tumours TCGA characterised across 33 cancer types (TCGA-CDR, whole program), 2018"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6066282/"; rdfs:comment "By the end of this 10-year project, TCGA network investigators had characterized the molecular landscape of tumors from 11,160 patients across 33 cancer types and defined their many molecular subtypes." . _:4cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid541; ; , ; , , ; "GCST90102456", "PMID:37783704"; "A cohort of adult men and women across all United States states, the District of Columbia and Puerto Rico, enrolled by the American Cancer Society in 1982 and followed prospectively for mortality in relation to lifestyle, medical history and other exposures."; 1200000; "ACS_c", "American Cancer Society Prevention Study", "CPS", "CPS-II", "CPSII", "Cancer Prevention Study II", "Cancer Prevention Study II (including the Nutrition cohort)", "Cancer Prevention Study-II"; ; rdfs:label "Cancer Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid541 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid541; "cancer"; "https://www.cancer.org/research/population-science/pop-sci/prevention-studies/cps-2.html"; rdfs:comment "The Cancer Prevention Study II (CPS-II), which began in 1982, is a prospective mortality study of approximately 1.2 million American men and women." . _:4d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.cancer.org/research/population-science/pop-sci/prevention-studies/cps-2.html"; rdfs:comment "recruited participants into the study in all 50 states, the District of Columbia, and Puerto Rico" . _:4d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102456"; "Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival."; "PMID:34996992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8741984/fullTextXML"; rdfs:comment "The following 15 ISACC studies were included: the Cancer Prevention Study-II (CPS-II)" . _:4d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37783704"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704", "https://europepmc.org/articles/PMC10545678"; rdfs:comment "Cancer Prevention Study II (CPSII)" . _:4d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adult men and women across all United States states, the District of Columbia and Puerto Rico, enrolled by the American Cancer Society in 1982 and followed prospectively for mortality in relation to lifestyle, medical history and other exposures."; "https://www.cancer.org/research/population-science/pop-sci/prevention-studies/cps-2.html"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1200000; "American men and women enrolled in CPS-II in 1982"; "https://www.cancer.org/research/population-science/pop-sci/prevention-studies/cps-2.html"; rdfs:comment "The Cancer Prevention Study II (CPS-II), which began in 1982, is a prospective mortality study of approximately 1.2 million American men and women." . _:4d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS_c"; . _:4d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPS"; . _:4d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPS-II"; . _:4d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPSII"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid552; , ; , ; "GCST001942"; "A case-control collection of men with newly diagnosed prostate cancer and controls matched by age and residence in Sweden, used to investigate inherited susceptibility to prostate cancer."; "The acronym CAPS also denotes Caerphilly Prospective Study (COHO:0001555) and Carotid Atherosclerosis Progression Study (COHO:0001566); this term is Cancer Prostate in Sweden."@en; 3161; 2149; "CAPS", "CAncer of the Prostate in Sweden", "Cancer of the Prostate in Sweden"; ; rdfs:label "Cancer Prostate in Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid552 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid552; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3364485/"; rdfs:comment "The population-based, case–control study in Sweden, named Cancer Prostate in Sweden (CAPS) was used to complete fine-mapping in the study.18 Cases with pathologically diagnosed PCa were recruited from regional cancer registries in Sweden, between July 2001 and October 2003." . _:4db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3364485/"; rdfs:comment "Cases with pathologically diagnosed PCa were recruited from regional cancer registries in Sweden" . _:4dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001942"; "Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array."; "PMID:23535732", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=3832790"; rdfs:comment "Cancer of the Prostate in Sweden (CAPS)" . _:4dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of men with newly diagnosed prostate cancer and controls matched by age and residence in Sweden, used to investigate inherited susceptibility to prostate cancer."; "PMID:15087412"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3161; "prostate cancer cases and controls recruited 2001-2003"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "The CAPS (Cancer of the Prostate in Sweden) study represents a large Swedish population- based cancer study, comprising 3,161 cases and 2,149 controls, recruited between 2001 and 2003." . _:4df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2149; "prostate cancer cases and controls recruited 2001-2003"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "The CAPS (Cancer of the Prostate in Sweden) study represents a large Swedish population- based cancer study, comprising 3,161 cases and 2,149 controls, recruited between 2001 and 2003." . _:4e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid560; , , , , , , , , ; "GCST90134326"; "A project combining three parallel placebo-controlled trials of candesartan in people with symptomatic heart failure, with reduced or preserved left ventricular function, across 26 countries, to evaluate mortality and hospitalisation; recruitment begins in March 1999."; 7601; "CHARM", "CHARM-Overall"; ; rdfs:label "Candesartan in Heart failure Assessment of Reduction in Mortality and morbidity"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid560 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid560; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10496201+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CHARM is intended to randomize 6,500 patients with symptomatic heart failure from 26 countries in Europe, the United States, Canada, South Africa, and Australia." . _:4e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/10496201"; rdfs:comment "CHARM is intended to randomize 6,500 patients with symptomatic heart failure from 26 countries in Europe, the United States, Canada, South Africa, and Australia" . _:4e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134326"; "Pharmacogenomic study of heart failure and candesartan response from the CHARM programme."; "PMID:35736394", "https://europepmc.org/articles/PMC9715825"; rdfs:comment "Candesartan in Heart failure Assessment of Reduction in Mortality and morbidity (CHARM)" . _:4e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining three parallel placebo-controlled trials of candesartan in people with symptomatic heart failure, with reduced or preserved left ventricular function, across 26 countries, to evaluate mortality and hospitalisation; recruitment begins in March 1999."; "PMID:10496201"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7601; "patients randomised across the three CHARM trials (CHARM-Overall), 2003"; "PMID:13678868"; rdfs:comment "Overall, 7601 patients (7599 with data) were randomly assigned candesartan (n=3803, titrated to 32 mg once daily) or matching placebo (n=3796), and followed up for at least 2 years." . _:4e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARM"; . a owl:NamedIndividual, ; , , , ; , , , , , , ; ; "GCST90002243"; "An ongoing collaborative network of member studies of Asian populations, including Japanese, Vietnamese and Sri Lankan people, whose participants were recruited in a population-based or hospital-based setting depending on the design of each member study, to investigate genetic and environmental factors, and their interactions, affecting cardiometabolic traits and disorders."; "CAGE", "Cardio-metabolic Genome Epidemiology Study"; ; rdfs:label "Cardio-metabolic Genome Epidemiology Network"@en . _:4e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.834/MediaObjects/41588_2011_BFng834_MOESM19_ESM.pdf"; rdfs:comment "in the 3 population- based studies of Japanese (Amagasaki, Fukuoka, and KING Studies of CAGE Network, N = 21,875 in total)" . _:4e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.834/MediaObjects/41588_2011_BFng834_MOESM19_ESM.pdf"; rdfs:comment "in the 3 population- based studies of Japanese (Amagasaki, Fukuoka, and KING Studies of CAGE Network, N = 21,875 in total)" . _:4e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3158568/unicode"; rdfs:comment "for Fukuoka Study and Kita-Nagoya Genomic Epidemiology [KING]Study of the CAGE Network" . _:4ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4284402/supplementaryFiles"; rdfs:comment "It constitutes a sub-cohort of the study group of the CArdiovascular Genomic Epidemiology (CAGE) Network [4]." . _:4eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4673465/fullTextXML"; rdfs:comment "The Cardio-metabolic Genome Epidemiology (CAGE) Network is an ongoing collaborative effort to investigate genetic and environmental factors, and their interactions affecting cardiometabolic traits/disorders among Asian populations, including the Japanese, Vietnamese and Sri Lankan" . _:4ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002243"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles#EMS120610-supplement-Supplementary_Tables.xlsx"; rdfs:comment "Cardiometabolic Genome Epidemiology 1" . _:4ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing collaborative network of member studies of Asian populations, including Japanese, Vietnamese and Sri Lankan people, whose participants were recruited in a population-based or hospital-based setting depending on the design of each member study, to investigate genetic and environmental factors, and their interactions, affecting cardiometabolic traits and disorders."; "PMID:26648100"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid575, _:genid-371333f489424440b12a13b9d98ced822608-genid577; , , , ; ; "EGAS00001000411", "GCST006259"; "A case-control collection of patients with myocardial infarction and unaffected controls recruited in Cambridge, Leicester, Lübeck, Regensburg and Paris for investigation of coronary-disease genetics, including gene expression in monocytes and macrophages."; 459; 459; 918; "CARDIOGENICS"; , ; rdfs:label "Cardiogenics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid577 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid575; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314981/fullTextXML"; rdfs:comment "The Cardiogenics Study is a European collaboration on genetics of coronary artery disease.14 This initiative recruited 918 participants (459 patients with myocardial infarction and 459 normal controls) in five centres: Cambridge (UK), Leicester (UK), Lübeck (Germany), Regensburg (Germany), and Paris (France)." . _:4f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid577; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314981/fullTextXML"; rdfs:comment "The Cardiogenics Study is a European collaboration on genetics of coronary artery disease.14 This initiative recruited 918 participants (459 patients with myocardial infarction and 459 normal controls) in five centres: Cambridge (UK), Leicester (UK), Lübeck (Germany), Regensburg (Germany), and Paris (France)." . _:4f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/srep35278"; rdfs:comment "recruitment process at Cambridge and Leicester (UK), Luebeck and Regensburg (Germany), and Paris (France)" . _:4f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000411"; "Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy."; "PMID:21965548", "https://ega-archive.org/studies/EGAS00001000411"; rdfs:comment "As part of the Cardiogenics project, RNA from monocytes and macrophages of 363 patients with coronary artery disease" . _:4f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST006259"; "The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals."; "PMID:27618452", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5042863/fullTextXML"; rdfs:comment "CARDIOGENICS: Genotyping or analysis: S.Kanoni, A.H.G. Study PI: P.D., A.H.G., J.E., N.J.S., H.Schunkert" . _:4f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of patients with myocardial infarction and unaffected controls recruited in Cambridge, Leicester, Lübeck, Regensburg and Paris for investigation of coronary-disease genetics, including gene expression in monocytes and macrophages."; "PMID:22325189"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:4f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 459; "participants recruited in five centres (MI patients and controls)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3314981/"; rdfs:comment "This initiative recruited 918 participants (459 patients with myocardial infarction and 459 normal controls) in five centres: Cambridge (UK), Leicester (UK), Lübeck (Germany), Regensburg (Germany), and Paris (France)." . _:4f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 459; "participants recruited in five centres (MI patients and controls)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3314981/"; rdfs:comment "This initiative recruited 918 participants (459 patients with myocardial infarction and 459 normal controls) in five centres: Cambridge (UK), Leicester (UK), Lübeck (Germany), Regensburg (Germany), and Paris (France)." . _:4f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 918; "participants recruited in five centres (MI patients and controls)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3314981/"; rdfs:comment "This initiative recruited 918 participants (459 patients with myocardial infarction and 459 normal controls) in five centres: Cambridge (UK), Leicester (UK), Lübeck (Germany), Regensburg (Germany), and Paris (France)." . _:4f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARDIOGENICS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid587, _:genid-371333f489424440b12a13b9d98ced822608-genid589; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90225531", "PMID:23202125"; "A consortium of coronary-disease genetic studies combining European, South Asian and East Asian case-control data to identify susceptibility variants for coronary artery disease and myocardial infarction. CARDIoGRAMplusC4D joins the Coronary Artery Disease Genome-wide Replication and Meta-analysis and Coronary Artery Disease Genetics consortia."; 60801; 123504; 185000; "coronary artery disease genome-wide replication and meta-analysis plus the coronary artery disease 1000 Genomes meta-analysis"; ; rdfs:label "CARDIoGRAMplusC4D"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid587; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9520490/fullTextXML"; rdfs:comment "The summary statistic for CAD was from the Coronary ARtery DIsease Genome Wide Replication and Meta-analysis plus The Coronary Artery Disease Genetics (CARDIoGRAMplusC4D) Consortium (60,801 cases and 123,504 controls) (Nikpay et al., 2015)." . _:4fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid589; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9520490/fullTextXML"; rdfs:comment "The summary statistic for CAD was from the Coronary ARtery DIsease Genome Wide Replication and Meta-analysis plus The Coronary Artery Disease Genetics (CARDIoGRAMplusC4D) Consortium (60,801 cases and 123,504 controls) (Nikpay et al., 2015)." . _:4fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Cardiogenics" . _:4fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "EGCUT" . _:4fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "EPIC" . _:4fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "GoDARTS" . _:4ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "HPS" . _:5002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "PROCARDIS" . _:5012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "PIVUS" . _:5022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "STR" . _:5032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "PROMIS" . _:5042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "THISEAS" . _:5052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "FGENTCARD" . _:5062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "ULSAM" . _:5072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "METSIM" . _:5082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "PopGen" . _:5092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "COROGENE" . _:50a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "LURIC-EMIL" . _:50b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "AMC-PAS" . _:50c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "FINCAVAS" . _:50d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "LOLIPOP" . _:50e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "DUKE" . _:50f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3679547/unicode"; rdfs:comment "We expanded the CARDIoGRAM discovery data set (22,233 cases and 64,762 controls, stage 1) with 34 additional CAD sample collections (stage 2) of European or south Asian descent comprising 41,513 cases and 65,919 controls (study descriptions and sample characteristics are given in Supplementary Tables 1a and 2a, respectively) and undertook a 2-stage meta-analysis to test SNPs on the Metabochip array for disease association in a total of 63,746 cases and 130,681 controls." . _:5102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5555387/unicode"; rdfs:comment "A subset of the PROMIS study and EPIC-CVD consortium were contributed to the CARDIoGRAMplusC4D 2013 report." . _:5112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4589895/supplementaryFiles"; rdfs:comment "A total of 1616 subjects used in this study are part of the Sikh Diabetes Study/Asian Indian Diabetic Heart Study" . _:5122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "The INTERHEART Study (ITH) used worldwide cases and controls of European ethnicity." . _:5132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "MAYOVDB The Mayo Clinic Vascular Disease Biorepository (MAYOVDB) was initiated in 2006 to archive DNA, plasma, and serum from patients with atherosclerotic vascular disease" . _:5142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "The Lübeck Registry of Structural Heart Disease /KORA (Kooperative Gesundheitsforschung in der Region Augsburg) survey S3/F3 datasets included cases selected from consecutive patients referred for coronary angiography, which were classified as CAD/MI based on the coronary angiogram; cases were < 65 y in males or < 70 y in females." . _:5152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "CCGB Cases had at least one of myocardial infarction, coronary artery bypass graft, percutanaeous intervention or a stenosis of at least 50% in at least one epicardial vessel." . _:5162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "The FRISC II, (Fragmin and Fast Revascularization during Instability in Coronary Artery Disease) study was a prospective, randomised, multicentre trial (58 hospitals in Sweden, Norway and Denmark) with parallel groups to compare invasive and non‐invasive treatments." . _:5172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Subjects of GenRIC (Genomics Research in Cardiovascular Disease) study is composed of 2,099 CAD patients from three teaching hospitals (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine) and 2,690 controls from HEXA (Health Examinee) which is one of the KoGES (Korean Genome Epidemiology Study) population based cohorts that were initiated in 2001 aiming to identify genetic risk factors of complex diseases." . _:5182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/srep35278/tables/1"; rdfs:comment "HSDSWhite European206 (0.0)258 (0.0)45.6" . _:5192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SCARF-SHEEP European Sweden CAD/MI First confirmed myocardial infarction No history, symptoms or signs of cardiovascular disease" . _:51a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90225531"; "Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis."; "PMID:36187959", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9520490/fullTextXML"; rdfs:comment "The summary statistic for CAD was from the Coronary ARtery DIsease Genome Wide Replication and Meta-analysis plus The Coronary Artery Disease Genetics (CARDIoGRAMplusC4D) Consortium (60,801 cases and 123,504 controls) (Nikpay et al., 2015)." . _:51b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23202125"; "Large-scale association analysis identifies new risk loci for coronary artery disease."; "PMID:23202125" . _:51c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of coronary-disease genetic studies combining European, South Asian and East Asian case-control data to identify susceptibility variants for coronary artery disease and myocardial infarction. CARDIoGRAMplusC4D joins the Coronary Artery Disease Genome-wide Replication and Meta-analysis and Coronary Artery Disease Genetics consortia."; "PMID:38060277"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:51d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60801; "CAD cases and controls in the 2015 1000 Genomes-based meta-analysis (approximate)"; "PMID:26343387"; rdfs:comment "Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of ∼185,000 CAD cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequency (0.005 < MAF < 0.05) variants." . _:51e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 123504; "CAD cases and controls in the 2015 1000 Genomes-based meta-analysis (approximate)"; "PMID:26343387"; rdfs:comment "Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of ∼185,000 CAD cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequency (0.005 < MAF < 0.05) variants." . _:51f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 185000; "CAD cases and controls in the 2015 1000 Genomes-based meta-analysis (approximate)"; "PMID:26343387"; rdfs:comment "Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of ∼185,000 CAD cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequency (0.005 < MAF < 0.05) variants." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid628; , ; ; "GCST90085699"; "A case-control collection of people with newly diagnosed squamous-cell head and neck cancer and controls matched by age, race and sex, recruited during 2002–2006 in 46 North Carolina counties to investigate cancer risk factors."; 1389; 1396; "CHANCE"; ; rdfs:label "Carolina Head and Neck Cancer Epidemiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid628 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid628; "squamous cell carcinoma of head and neck"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20049634+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A population-based case-control study of incident SCCHN, the Carolina Head and Neck Cancer Study was carried out in 2002-2006 in 46 counties in North Carolina." . _:5212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3372316/"; rdfs:comment "head and neck SCC carried out among 46 counties in central and eastern North Carolina" . _:5222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90085699"; "Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer."; "PMID:34642315", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8511029/supplementaryFiles#41467_2021_26151_MOESM1_ESM.pdf"; rdfs:comment "Carolina Head and Neck Cancer Epidemiology" . _:5232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with newly diagnosed squamous-cell head and neck cancer and controls matched by age, race and sex, recruited during 2002–2006 in 46 North Carolina counties to investigate cancer risk factors."; "PMID:20049634"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1389; "interviewed head and neck cancer cases and controls, 2002-2006"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2925153/"; rdfs:comment "Interview data were available for 1,389 cases and 1,396 controls." . _:5252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1396; "interviewed head and neck cancer cases and controls, 2002-2006"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2925153/"; rdfs:comment "Interview data were available for 1,389 cases and 1,396 controls." . _:5262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHANCE"; . a owl:NamedIndividual, ; , ; ; "EGAS00001001957", "GCST90711137"; "A biobank of men and women aged 40–69 years sampled from four metropolitan areas in Quebec, with prospective health information and biological specimens for investigating genetic and environmental determinants of chronic disease."; 43000; "CARTaGENE"; , ; rdfs:label "CARTaGENE cohort (CHU Sainte-Justine, Quebec, Canada)"@en . _:5272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11282926/fullTextXML"; rdfs:comment "CARTaGENE is a population-based project including residents from the province of Quebec enrolled at the age of 40–69" . _:5282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001957"; "Relaxed Selection During a Recent Human Expansion."; "PMID:29187508", "https://ega-archive.org/studies/EGAS00001001957"; rdfs:comment "we screened the ascending genealogies of 3916 individuals from the CARTaGENE cohort (Awadalla et al. 2013) that were linked to the BALSAC genealogical database" . _:5292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90711137"; "Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian case-control cohort."; "PMID:38970920", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A38970920+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "20,010 ethnically matched controls from CARTaGENE" . _:52a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of men and women aged 40–69 years sampled from four metropolitan areas in Quebec, with prospective health information and biological specimens for investigating genetic and environmental determinants of chronic disease."; "PMID:23071140"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:52b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 43000; "men and women aged 40-69 recruited in phases A and B (over 43 000)"; "PMID:39153764"; rdfs:comment "CARTaGENE recruited over 43 000 men and women aged 40-69 in two phases (A and B)." . _:52c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARTaGENE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid642; , ; "PMID:22318914"; "A research and clinical centre at the University of California, Los Angeles, that investigates autism, provides patient care and trains researchers and clinicians working with autistic children and adults and their families."; "The acronym ACE also denotes Genome Research at Fundació ACE (COHO:0000258); this term is Center for Autism Research and Treatment."@en; "ACE", "Autism Centre of Excellence", "CART", "Geschwind Autism Center of Excellence", "UCLA Autism Center of Excellence"; rdfs:label "Center for Autism Research and Treatment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid642 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:52d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid642; "autism"; "https://teams.semel.ucla.edu/autism/mission"; rdfs:comment "UCLA Center for Autism Research and Treatment is dedicated to improving the lives of all children and adults with autism, and their families, through its research, patient care, and training of the next generation of researchers and clinical practitioners." . _:52e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3272329/unicode"; rdfs:comment "Participants were recruited through UCLA’s Center for Autism Research and Treatment, fliers distributed in the local community" . _:52f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22318914"; "An fMRI investigation of responses to peer rejection in adolescents with autism spectrum disorders."; "PMID:22318914", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3272329/unicode"; rdfs:comment "Participants were recruited through UCLA’s Center for Autism Research and Treatment" . _:5302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research and clinical centre at the University of California, Los Angeles, that investigates autism, provides patient care and trains researchers and clinicians working with autistic children and adults and their families."; "https://teams.semel.ucla.edu/autism/mission"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACE"; . _:5322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CART"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid649; , ; "GCST90133114"; "A Colorado research centre founded in 1997 that investigates genetic contributions to adolescent externalising behaviours, including drug abuse and conduct disorder."; "CADD"; ; rdfs:label "Center on Antisocial Drug Dependence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid649 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid649; "substance use disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9110300/supplementaryFiles#41588_2022_1062_MOESM1_ESM.pdf"; rdfs:comment "The Center on Antisocial Drug Dependence (CADD) was established in 1997 to investigate the etiology of substance use disorders and related conditions." . _:5342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9110300/fullTextXML"; rdfs:comment "individual study sample sizes ranging from n = 601 for the Colorado based CADD study to n = 40,068 for UK Biobank." . _:5352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90133114"; "Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects."; "PMID:35534559", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9110300/supplementaryFiles#41588_2022_1062_MOESM1_ESM.pdf"; rdfs:comment "The Center on Antisocial Drug Dependence" . _:5362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Colorado research centre founded in 1997 that investigates genetic contributions to adolescent externalising behaviours, including drug abuse and conduct disorder."; "https://www.colorado.edu/ibg/about-ibg/institute-behavioral-genetics-50-years-excellence-1967-2017"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADD"; . a owl:NamedIndividual, ; , , , , , ; "GCST004735", "PMID:26432245"; "A research foundation, the Centre d’Etude du Polymorphisme Humain, that investigates human genetic variation, particularly in complex diseases, to improve understanding, diagnosis and personalised medicine."; "CEPH"; ; rdfs:label "Centre dEtude du Polymorphisme Humain"@en . _:5382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000268.v1.p1"; rdfs:comment "The CEPH collection includes families collected by R. White (Utah), J. Dausset (French), J. Gusella (Venezuelan), and J. Egeland (Amish)." . _:5392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004735"; "Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples."; "PMID:28654678", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5487016/fullTextXML"; rdfs:comment "Utah Residents (CEPH) with Northern and Western European ancestry CEU EUR 96" . _:53a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26432245"; "A global reference for human genetic variation."; "PMID:26432245", "https://europepmc.org/articles/PMC4750478"; rdfs:comment "Utah residents (CEPH) with northern and western European ancestry" . _:53b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research foundation, the Centre d’Etude du Polymorphisme Humain, that investigates human genetic variation, particularly in complex diseases, to improve understanding, diagnosis and personalised medicine."; "https://www.fjd-ceph.org/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:53c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEPH"; . a owl:NamedIndividual; "CNG"; rdfs:comment "Obsoleted 2026-09-22. The Centre National de Génotypage is a French genotyping and sequencing centre, not a participant cohort. Its only hit in an EBI database is a text match of the acronym CNG to EGA study EGAS00001001825 (Institut Curie - CNG neuroblastoma whole-genome sequencing), which the human EGA review marked incorrect, and the GWAS Catalog has no CNG cohort tag. No cohort was identified for the term to be replaced by."@en; rdfs:label "obsolete Centre National de Génotypage"@en; owl:deprecated true . _:53d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid661; , ; "GCST001739"; "A cohort of adults and children aged at least six years with clinically confirmed asthma, recruited through asthma clinics at the University of Chicago Medical Center for genetic investigation of asthma."; "The acronym CAG also denotes Center for Applied Genomics Biobank (COHO:0000489); this term is Chicago Asthma Genetics."@en; "CAG"; ; rdfs:label "Chicago Asthma Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid661 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:53e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid661; "asthma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3548570/unicode"; rdfs:comment "Participants were recruited through the adult and pediatric asthma clinics at the University of Chicago Medical Center as part of the Chicago Asthma Genetics study." . _:53f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3548570/"; rdfs:comment "Participants were recruited through the adult and pediatric asthma clinics at the University of Chicago Medical Center" . _:5402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001739"; "A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations."; "PMID:23146381", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3596497/unicode"; rdfs:comment "the Chicago Asthma Genetics Study (CAG)" . _:5412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults and children aged at least six years with clinically confirmed asthma, recruited through asthma clinics at the University of Chicago Medical Center for genetic investigation of asthma."; "PMID:21798578"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid667, _:genid-371333f489424440b12a13b9d98ced822608-genid669, _:genid-371333f489424440b12a13b9d98ced822608-genid671, _:genid-371333f489424440b12a13b9d98ced822608-genid673; , ; , ; "EGAS00001002746", "GCST002646"; "A birth cohort of children enrolled at three to four months of age between 1994 and 1996 for prospective investigation of environmental, genetic and socioeconomic determinants of childhood asthma, allergic disease and their prognosis."; 4093; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BAMSE"; "BAMSE"; , , ; rdfs:label "Children, Allergy, Milieu, Stockholm, Epidemiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid667 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid669 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid667; "exposure at home and day care"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688617+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Inclusion in the study was made at 3-4 months of age. At that time, and before induction of allergic disease/ asthma of the child, a questionnaire focused on exposure, genetics and socio-economic factors was answered. Settled dust was sampled for later analysis of furred animal and mite allergens." . _:5442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid669; "furred animal and mite allergens"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688617+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Inclusion in the study was made at 3-4 months of age. At that time, and before induction of allergic disease/ asthma of the child, a questionnaire focused on exposure, genetics and socio-economic factors was answered. Settled dust was sampled for later analysis of furred animal and mite allergens." . _:5452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid671; "asthma"; "https://ega-archive.org/studies/EGAS00001002746"; rdfs:comment "The cohort was initially designed to study risk factors for asthma, allergic diseases and lung function in childhood, and to study factors of importance for prognosis at already established disease." . _:5462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid673; "allergic diseases"; "https://ega-archive.org/studies/EGAS00001002746"; rdfs:comment "The cohort was initially designed to study risk factors for asthma, allergic diseases and lung function in childhood, and to study factors of importance for prognosis at already established disease." . _:5472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001002746"; rdfs:comment "population-based prospective birth cohort including 4,089 children born between 1994 and 1996 in Stockholm, Sweden." . _:5482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002746"; "DNA methylation in childhood asthma: an epigenome-wide meta-analysis."; "PMID:29496485", "https://ega-archive.org/studies/EGAS00001002746"; rdfs:comment "Children, Allergy, Milieu, Stockholm, Epidemiology" . _:5492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002646"; "A novel common variant in DCST2 is associated with length in early life and height in adulthood."; "PMID:25281659", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4447786/fullTextXML"; rdfs:comment "one sub-sample from the Avon Longitudinal Study of Parents and Children (ALSPAC, GWA, n = 4816); Children, Allergy, Milieu, Stockholm, Epidemiology [Swedish] (BAMSE, GWA, n = 423);" . _:54a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of children enrolled at three to four months of age between 1994 and 1996 for prospective investigation of environmental, genetic and socioeconomic determinants of childhood asthma, allergic disease and their prognosis."; "PMID:12688617"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:54b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4093; "children enrolled at 3-4 months of age, 1994-1996"; "PMID:12688617"; rdfs:comment "In November 1996, this number was reached (4,093)." . _:54c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAMSE"; . a owl:NamedIndividual, ; , ; ; "GCST000635"; "A cohort of African-American and White men and women completing six weeks of open-label simvastatin treatment to investigate genetic, demographic and clinical determinants of lipid-lowering response."; 944; "CAP", "Cholesterol and Pharmacogenetics", "Cholesterol and Pharmacogenetics clinical trial"; ; rdfs:label "Cholesterol and Atherosclerosis Pharmacogenetics"@en . _:54d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://eprints.gla.ac.uk/135921/1/135921.pdf"; rdfs:comment "They were recruited from two clinical sites located in Los Angeles and San Francisco, California, respectively." . _:54e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000635"; "Genome-wide association of lipid-lowering response to statins in combined study populations."; "PMID:20339536", "https://europepmc.org/articles/PMC2842298"; rdfs:comment "The Cholesterol and Pharmacogenetics (CAP) trial involved 944 healthy volunteers" . _:54f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of African-American and White men and women completing six weeks of open-label simvastatin treatment to investigate genetic, demographic and clinical determinants of lipid-lowering response."; "PMID:16516587"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 944; "African-American and white adults enrolled who completed the 6-week simvastatin trial"; "PMID:16516587"; rdfs:comment "We enrolled 944 African-American and white men and women who completed an open-label, 6-week pharmacogenetics trial of 40 mg of simvastatin." . _:5512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAP"; . a owl:NamedIndividual, ; , ; , ; "EGAS00001000620", "GCST90029072", "PGS000736"; "A cohort of residents of the genetically isolated villages Campora, Gioi and Cardile in Cilento, southern Italy, providing genealogical and genomic data to investigate human genetic variation and the inherited determinants of complex traits and disease."; 2137; "Cilento", "INGI-Cilento", "INGI_CILENTO", "Italian Network on Genetic Isolates-Cliento"; , , ; rdfs:label "Cilento study"@en . _:5522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8376970/fullTextXML"; rdfs:comment "1600 volunteer individuals recruited through a population-based sampling strategy in three small isolated villages of the Cilento region, South Italy" . _:5532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000620"; "Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy."; "PMID:30858532", "https://ega-archive.org/studies/EGAS00001000620"; rdfs:comment "The aim of this project is to identify rare genetic variants of large effect implicated in complex diseases by focusing on the study of cardiovascular diseases and related quantitative traits in a well characterized isolated population in Cilento area, Italy." . _:5542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90029072"; "Genetics of PlGF plasma levels highlights a role of its receptors and supports the link between angiogenesis and immunity."; "PMID:34413389", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8376970/fullTextXML"; rdfs:comment "A GWAS meta-analysis of PlGF circulating levels was performed in 2068 individuals from three isolated populations of Cilento, South Italy" . _:5552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000736"; "Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores."; "PMID:31504448" . _:5562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of residents of the genetically isolated villages Campora, Gioi and Cardile in Cilento, southern Italy, providing genealogical and genomic data to investigate human genetic variation and the inherited determinants of complex traits and disease."; "PMID:30858532"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2137; "participants recruited in Campora, Gioi and Cardile, 2003-2008"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6411969/"; rdfs:comment "The sample for this study was based on the initial cohort of 2,137 participants, which were recruited in the Genetic Park of Cilento and Vallo di Diano Project between 2003 and 2008." . _:5582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cilento"; . _:5592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-Cilento"; . _:55a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI_CILENTO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid695; , , ; "EGAS00001005421", "GCST90095054"; "A randomised trial cohort of patients with advanced colorectal cancer in the Continuous or Intermittent (COIN) trial, comparing uninterrupted oxaliplatin and fluoropyrimidine chemotherapy with planned treatment breaks to assess survival and treatment burden."; 2445; , ; rdfs:label "COIN"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid695 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:55b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid695; "advanced colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26889974+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The phase III COntinuous or INtermittent (COIN) trial failed to show non-inferiority of intermittent compared with continuous chemotherapy for advanced colorectal cancer in overall survival (OS)." . _:55c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://innovative-ctu.ucl.ac.uk/studies/all-studies/c/coin-cr10/"; rdfs:comment "Hospitals throughout the UK and Ireland." . _:55d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005421"; "COIN CRC GWAS data"; "https://ega-archive.org/studies/EGAS00001005421"; rdfs:comment "Genotype data from the COIN and COIN-B trials" . _:55e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095054"; "Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand-foot syndrome."; "PMID:35467766", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:35467766%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We analysed genome-wide association data for 10 toxicities in advanced colorectal cancer (CRC) patients from the COIN and COIN-B trials." . _:55f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of patients with advanced colorectal cancer in the Continuous or Intermittent (COIN) trial, comparing uninterrupted oxaliplatin and fluoropyrimidine chemotherapy with planned treatment breaks to assess survival and treatment burden."; "PMID:26889974"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2445; "patients randomised to the three COIN arms, 2005-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3159416/fullTextXML"; rdfs:comment "Between March 9, 2005, and May 9, 2008, 2445 patients were randomly allocated to treatment groups at 111 centres in the UK and Ireland, with 1630 patients assigned to the comparison of continuous versus intermittent treatment." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid702; , , ; "EGAS00001005421", "GCST90101725"; "A randomised trial cohort of patients with advanced colorectal cancer and no previous chemotherapy for metastases, recruited at 30 UK hospitals and one in Cyprus to compare intermittent chemotherapy combined with either intermittent or continuous cetuximab."; 226; , ; rdfs:label "COIN-B"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid702 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid702; "advanced colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24703531+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We enrolled patients with advanced colorectal cancer who had received no previous chemotherapy for metastases." . _:5622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pubmed.ncbi.nlm.nih.gov/24703531/"; rdfs:comment "COIN-B was an open-label, multicentre, randomised, exploratory phase 2 trial done at 30 hospitals in the UK and one in Cyprus." . _:5632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005421"; "COIN CRC GWAS data"; "https://ega-archive.org/studies/EGAS00001005421"; rdfs:comment "Genotype data from the COIN and COIN-B trials" . _:5642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101725"; "A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients."; "PMID:34794066", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34794066%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed a GWAS for overall survival (OS) in 1926 patients with advanced CRC from the COIN and COIN-B clinical trials." . _:5652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of patients with advanced colorectal cancer and no previous chemotherapy for metastases, recruited at 30 UK hospitals and one in Cyprus to compare intermittent chemotherapy combined with either intermittent or continuous cetuximab."; "PMID:24703531"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 226; "patients enrolled (randomised) in COIN-B, of 401 registered"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4012566/"; rdfs:comment "We registered 401 patients, 226 of whom were enrolled." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid709, _:genid-371333f489424440b12a13b9d98ced822608-genid711; , ; ; "GCST012878"; "A case-control collection of Austrian participants with colorectal cancer or colorectal polyps and colonoscopy-confirmed polyp-free controls, assembled to investigate genetic susceptibility to colorectal neoplasia."; "The acronym CORSA also denotes the Italian SARS-CoV-2 Vaccine Response in Cancer trial (COHO:0000329); this term is the Austrian colorectal cancer study. The EGA study EGAS50000001205 tagged CORSA is the vaccine trial, not this cohort."@en; 13000; "CORSA"; ; rdfs:label "Colorectal Cancer Study of Austria"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid709 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid711 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid709; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22495810+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3,264 participants was genotyped including 142 CRC cases, 492 high-risk polyps, 837 low-risk polyps, and 1,793 polyp-free controls verified by colonoscopy." . _:5682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid711; "colorectal polyps"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22495810+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3,264 participants was genotyped including 142 CRC cases, 492 high-risk polyps, 837 low-risk polyps, and 1,793 polyp-free controls verified by colonoscopy." . _:5692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8389216/"; rdfs:comment "Additional CRC cases have been recruited at four hospitals in Vienna and a hospital in lower Austria." . _:56a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST012878"; "Discovery of common and rare genetic risk variants for colorectal cancer."; "PMID:30510241", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0286-6/MediaObjects/41588_2018_286_MOESM3_ESM.xlsx#text"; rdfs:comment "Colorectal Cancer Study of Austria" . _:56b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Austrian participants with colorectal cancer or colorectal polyps and colonoscopy-confirmed polyp-free controls, assembled to investigate genetic susceptibility to colorectal neoplasia."; "PMID:22495810"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:56c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13000; "participants recruited since 2003 (more than 13,000; cases, adenomas and colonoscopy-negative controls)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0286-6/MediaObjects/41588_2018_286_MOESM1_ESM.pdf"; rdfs:comment "In the ongoing CRC study of Austria (CORSA), more than 13,000 Caucasian participants have been recruited within the province-wide screening project “Burgenland Prevention Trial of Colorectal Disease with Immunological Testing” (B-PREDICT) since 200313 ." . _:56d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid718; , ; "GCST90258645"; "A project combining longitudinal and cross-sectional registry cohorts of African Americans with rheumatoid arthritis recruited through United States clinical centres to investigate genetic, clinical and environmental determinants of disease severity."; "CLEAR"; ; rdfs:label "Consortium for the Longitudinal Evaluation of African Americans with Early Rheumatoid Arthritis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid718 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:56e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid718; "rheumatoid arthritis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3052790/unicode"; rdfs:comment "The CLEAR Registry is a National Institute of Arthritis and Musculoskeletal and Skin Diseases-funded program which enrolls self-defined African Americans with RA as defined by the revised American Rheumatism Association (now the American College of Rheumatology [ACR]) criteria." . _:56f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2652071/"; rdfs:comment "Participants for CLEAR were recruited from the University of Alabama at Birmingham (UAB)" . _:5702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90258645"; "A genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa."; "PMID:35925860", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A35925860+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "Meta-analysis with summary statistics from an African-American cohort (CLEAR study)" . _:5712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining longitudinal and cross-sectional registry cohorts of African Americans with rheumatoid arthritis recruited through United States clinical centres to investigate genetic, clinical and environmental determinants of disease severity."; "PMID:20461784"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLEAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid724, _:genid-371333f489424440b12a13b9d98ced822608-genid726; , , , , , , ; , , , ; "EGAS00001007331", "GCST90482715"; "A consortium of stroke cohorts from minority populations, including African Americans, that combines genome-wide association results to identify genetic susceptibility to stroke."; 3734; 18317; "COMPASS"; , ; rdfs:label "Consortium of Minority Population Genome-Wide Association Studies of Stroke"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid724 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid726 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid724; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26089329+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Consortium of Minority Population Genome-Wide Association Studies of Stroke (COMPASS) was established to identify stroke susceptibility loci in minority populations." . _:5742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid726; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26089329+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Consortium of Minority Population Genome-Wide Association Studies of Stroke (COMPASS) was established to identify stroke susceptibility loci in minority populations." . _:5752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4740911/unicode"; rdfs:comment "Atherosclerosis Risk in Communities" . _:5762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-022-05165-3/MediaObjects/41586_2022_5165_MOESM1_ESM.docx"; rdfs:comment "COMPASS: The authors thank the staff and participants of the ARIC, CHS, VISP, HANDLS, INTERSTROKE, ISGS, JHS, SIGNET-REGARDS, GEOS, SiGN, SLESS, SWISS, and WHI studies" . _:5772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4740911/unicode"; rdfs:comment "Cardiovascular Health Study" . _:5782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4740911/unicode"; rdfs:comment "Women’s Health Initiative" . _:5792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4740911/unicode"; rdfs:comment "Healthy Aging in Neighborhoods of Diversity across the Life Span" . _:57a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4740911/unicode"; rdfs:comment "Dynamics of Health, Aging and Body Composition Study" . _:57b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-022-05165-3/MediaObjects/41586_2022_5165_MOESM1_ESM.docx"; rdfs:comment "COMPASS: The authors thank the staff and participants of the ARIC, CHS, VISP, HANDLS, INTERSTROKE, ISGS, JHS, SIGNET-REGARDS, GEOS, SiGN, SLESS, SWISS, and WHI studies" . _:57c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5354108/fullTextXML"; rdfs:comment "Black patients with stroke were consecutively recruited from South London, United Kingdom." . _:57d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007331"; "Novel functional insights into ischemic stroke biology provided by the first genome-wide association study of stroke in indigenous Africans."; "PMID:38317187", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10840175/fullTextXML"; rdfs:comment "The report also includes an African ancestry meta-analysis combining summary statistics from the COMPASS Consortium" . _:57e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90482715"; "Novel functional insights into ischemic stroke biology provided by the first genome-wide association study of stroke in indigenous Africans."; "PMID:38317187", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10840175/fullTextXML"; rdfs:comment "Consortium of Minority Population GWAS of Stroke" . _:57f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of stroke cohorts from minority populations, including African Americans, that combines genome-wide association results to identify genetic susceptibility to stroke."; "PMID:26089329"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3734; "cases and controls of African ancestry in the 2020 COMPASS meta-analysis of 13 cohorts"; "PMID:32693751"; rdfs:comment "The COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) has conducted a genome-wide association meta-analysis of stroke in >22 000 individuals of African ancestry (3734 cases, 18 317 controls) from 13 cohorts." . _:5812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18317; "cases and controls of African ancestry in the 2020 COMPASS meta-analysis of 13 cohorts"; "PMID:32693751"; rdfs:comment "The COMPASS (Consortium of Minority Population Genome-Wide Association Studies of Stroke) has conducted a genome-wide association meta-analysis of stroke in >22 000 individuals of African ancestry (3734 cases, 18 317 controls) from 13 cohorts." . _:5822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COMPASS"; . a owl:NamedIndividual, ; , ; , ; , ; "EGAS00000000097", "GCST004365", "PXD020261"; "A project combining population surveys, follow-up cohorts and an acute myocardial infarction registry in the Augsburg region, established in 1996 to extend MONICA and support epidemiological, genetic, health-economic and health-care research."; 17602; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/KORA"; "Cooperative Health Research in the Augsburg Region", "Cooperative Research in the Region of Augsburg", "KORA", "KORA - Cooperative Health Research in the Region Augsburg", "KORA - Kooperative Gesundheitsforschung in der Region Augsburg", "KORA Study", "Kooperative Gesundheitsforschung in der Region Augsburg"; , , , ; rdfs:label "Cooperative Health Research in the Region of Augsburg"@en; rdfs:seeAlso . _:5832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "The third KORA survey (KORA S3, n=3,996) is a population-based sample from the general population of the South-German city of Augsburg and surrounding counties from 1994/1995." . _:5842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf"; rdfs:comment "The KORA F4 study (Cooperative Health Research in the Region of Augsburg) is a follow-up study to the KORA-Survey 2000 (S4, 10/1999 – 7/2001) 10 ." . _:5852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5333359/fullTextXML"; rdfs:comment "The KORA F4 study is a population-based cohort of 3,080 subjects living in southern Germany." . _:5862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000097"; "Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP."; "PMID:22210626", "https://ega-archive.org/studies/EGAS00000000097"; rdfs:comment "After quality control we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen), for 491032-511862 SNPs in the European study." . _:5872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004365"; "Connecting genetic risk to disease end points through the human blood plasma proteome."; "PMID:28240269", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5333359/fullTextXML"; rdfs:comment "1,000 individuals of the population-based KORA (Cooperative Health Research in the Region of Augsburg) study" . _:5882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD020261"; "Multiplatform Approach for Plasma Proteomics: Complementarity of Olink Proximity Extension Assay Technology to Mass Spectrometry-Based Protein Profiling."; "PMID:33253581", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD020261"; rdfs:comment "Kora: cooperative health research in the region of augsburg" . _:5892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining population surveys, follow-up cohorts and an acute myocardial infarction registry in the Augsburg region, established in 1996 to extend MONICA and support epidemiological, genetic, health-economic and health-care research."; "PMID:16032513"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:58a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17602; "participants of the four baseline surveys S1-S4 (1984-2001)"; "https://www.helmholtz-munich.de/en/epi/cohort/kora"; rdfs:comment "In total, 17.602 participants were randomly selected from population registries in the study region." . _:58b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORA"; . _:58c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORA Study"; . a owl:NamedIndividual, ; , ; "GCST90132618"; "A biobank of patients receiving hospital care in the Capital Region of Denmark, established at Rigshospitalet in Copenhagen in February 2009 and subsequently expanded to other hospitals, retaining leftover clinical blood samples to enable research on health and disease."; "The acronym CHB also denotes Han Chinese in Beijing, China (COHO:0000808); this term is Copenhagen Hospital Biobank."@en; 425000; "CHB", "Copenhagen BB"; ; rdfs:label "Copenhagen Hospital Biobank"@en . _:58d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12624164/fullTextXML"; rdfs:comment "The Copenhagen Hospital Biobank (CHB) 23 was established in the Capital Region of Denmark" . _:58e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132618"; "Polygenic risk score for ACE-inhibitor-associated cough based on the discovery of new genetic loci."; "PMID:35751511", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10148738/"; rdfs:comment "the Copenhagen Hospital Biobank" . _:58f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of patients receiving hospital care in the Capital Region of Denmark, established at Rigshospitalet in Copenhagen in February 2009 and subsequently expanded to other hospitals, retaining leftover clinical blood samples to enable research on health and disease."; "PMID:33169150"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 425000; "patients in the biobank (approximate), 2023"; "PMID:36852012"; rdfs:comment "At present, the biobank counts ~425,000 patients (Table 4)." . _:5912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHB"; . _:5922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Copenhagen BB"; . a owl:NamedIndividual, ; , ; ; "EGAS00001008043", "GCST90129345"; "A cohort of adult volunteers recruited on Korčula island, Croatia, from 2007 to 2014 for family-based, cross-sectional investigation of genetic variants associated with common diseases, including cardiovascular disease, diabetes, glaucoma and stroke."; 2701; "CROATIA-KORCULA"; , ; rdfs:label "CROATIA-Korcula Study"@en . _:5932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001008043"; rdfs:comment "adult volunteers recruited in the island of Korčula, Croatia between 2007 and 2014." . _:5942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008043"; "CROATIA-Korcula Study"; "https://ega-archive.org/studies/EGAS00001008043"; rdfs:comment "CROATIA-Korcula Study" . _:5952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129345"; "Genetic regulation of post-translational modification of two distinct proteins."; "PMID:35332118", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8948205/fullTextXML"; rdfs:comment "We performed GWAS of 35 ultra-high-performance liquid chromatography (UHPLC)-measured transferrin N-glycan traits and Haplotype Reference Consortium (HRC) r1.135—imputed genetic data in two cohorts of European descent, CROATIA-Korcula (N = 948) and VIKING (N = 952)." . _:5962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adult volunteers recruited on Korčula island, Croatia, from 2007 to 2014 for family-based, cross-sectional investigation of genetic variants associated with common diseases, including cardiovascular disease, diabetes, glaucoma and stroke."; "https://metadata.ega-archive.org/studies/EGAS00001008043"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2701; "adult volunteers recruited 2007-2014 (entire cohort)"; "https://metadata.ega-archive.org/studies/EGAS00001008043"; rdfs:comment "This study describes whole genome sequencing (TruSeq Nano, Illumina) run on a HiSeqX platform at 30X coverage on 200 individuals best capturing the genetic variation of the entire cohort (N= 2701); they were selected using ANCHAP, an identity by descent inference tool (PMID 23361219)." . _:5982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CROATIA-KORCULA"; . a owl:NamedIndividual, ; , ; "GCST011569", "PMID:12871360"; "A cohort of men and women in the Danish Glostrup population examined at age 60 to investigate inflammatory, haemostatic and genetic correlates of atherosclerosis."; "DGC"; ; rdfs:label "Danish Glostrup Cohort"@en . _:5992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/12871360"; rdfs:comment "We have evaluated 325 men and 370 women of 60 years, participating in the Danish Glostrup study" . _:59a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST011569"; "Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity."; "PMID:32944759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7765651/fullTextXML"; rdfs:comment "The 1936-cohort is a population-based prospective age-specific cohort that consists of 1198 Danish subjects born in 1936, who were resident in municipalities nearby Glostrup Hospital (Denmark) in 1976." . _:59b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12871360"; "Inflammation, thrombosis and atherosclerosis: results of the Glostrup study."; "PMID:12871360", "https://europepmc.org/article/MED/12871360"; rdfs:comment "participating in the Danish Glostrup study" . _:59c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men and women in the Danish Glostrup population examined at age 60 to investigate inflammatory, haemostatic and genetic correlates of atherosclerosis."; "PMID:12871360"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:59d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid769; , , ; "GCST001213", "PMID:21949744"; "A case-control collection of people of Punjabi ancestry, predominantly originating from Mirpur, Pakistan, with type 2 diabetes or normal glucose regulation, assembled to investigate genetic susceptibility to diabetes and related glycaemic traits."; 821; 1167; 1988; "DGP"; ; rdfs:label "Diabetes Genetics in Pakistan"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid769 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:59e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid769; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176767/fullTextXML"; rdfs:comment "Participants in the investigation (Table 1) were from two studies of South Asian individuals; the United Kingdom Asian Diabetes Study (UKADS; 857 participants with type 2 diabetes, 417 without) [2], [3] and the Diabetes Genetics in Pakistan study (DGP; 821 participants with type 2 diabetes, 1167 without) [3]." . _:59f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3317653/"; rdfs:comment "Pakistan-based subjects (840 with type 2 diabetes, 1309 normoglycaemic individuals) were recruited from the Mirpur region of Azad Kashmir" . _:5a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001213"; "Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci."; "PMID:21874001", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3773920/"; rdfs:comment "Replication testing amongst South Asians was carried out amongst 13,170 T2D cases and 25,398 controls participants from the following studies: the Chennai Urban Rural Epidemiology Study (CURES)36 the COBRA study37 the Diabetes Genetics in Pakistan (DGP) and UK Asian Diabetes Study (UKADS),38, 39" . _:5a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21949744"; "Effects of 16 genetic variants on fasting glucose and type 2 diabetes in South Asians: ADCY5 and GLIS3 variants may predispose to type 2 diabetes."; "PMID:21949744", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3176767/unicode"; rdfs:comment "Diabetes Genetics in Pakistan study (DGP; 821 participants with type 2 diabetes, 1167 without)" . _:5a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people of Punjabi ancestry, predominantly originating from Mirpur, Pakistan, with type 2 diabetes or normal glucose regulation, assembled to investigate genetic susceptibility to diabetes and related glycaemic traits."; "PMID:21949744"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 821; "DGP participants genotyped in this study (type 2 diabetes cases and normoglycaemic controls), 2011"; "PMID:21949744"; rdfs:comment "All subjects (UKADS, n = 1274; DGP, n = 1988; total, n = 3262) were genotyped for the 16 SNPs using the KASPar method (KBioscience, Hoddesdon, UK)." . _:5a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1167; "DGP participants genotyped in this study (type 2 diabetes cases and normoglycaemic controls), 2011"; "PMID:21949744"; rdfs:comment "All subjects (UKADS, n = 1274; DGP, n = 1988; total, n = 3262) were genotyped for the 16 SNPs using the KASPar method (KBioscience, Hoddesdon, UK)." . _:5a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1988; "DGP participants genotyped in this study (type 2 diabetes cases and normoglycaemic controls), 2011"; "PMID:21949744"; rdfs:comment "All subjects (UKADS, n = 1274; DGP, n = 1988; total, n = 3262) were genotyped for the 16 SNPs using the KASPar method (KBioscience, Hoddesdon, UK)." . _:5a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid779; , ; ; "GCST002317"; "A cohort of people with type 2 diabetes and controls in Mexico City, Mexico, with a prospective design and genetic data used to investigate susceptibility to type 2 diabetes."; 762; 505; "DMS"; ; rdfs:label "Diabetes in Mexico Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid779 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid779; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature12828/MediaObjects/41586_2014_BFnature12828_MOESM230_ESM.pdf"; rdfs:comment "811 unrelated healthy subjects older than 45 years and with fasting glucose levels below 100 mg/dL were classified as controls. 569 unrelated individuals, older than 18 years, with either previous T2D diagnosis or fasting glucose levels above 125 mg/dL were included as T2D cases." . _:5a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4127086/unicode"; rdfs:comment "Diabetes in Mexico Study (DMS) Mexico City, Mexico Prospective Cohort" . _:5a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002317"; "Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico."; "PMID:24390345", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4127086/unicode"; rdfs:comment "Diabetes in Mexico Study (DMS)" . _:5aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with type 2 diabetes and controls in Mexico City, Mexico, with a prospective design and genetic data used to investigate susceptibility to type 2 diabetes."; "PMID:24390345"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 762; "DMS type 2 diabetes cases and controls in the SIGMA T2D dataset, before QC (table row), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4127086/"; rdfs:comment "Diabetes in Mexico Study (DMS) Mexico City, Mexico Prospective Cohort Controls 472 (505) 25.8% 52.5 ± 7.7 – 28.0 ± 4.4 5.0 ± 0.4 T2D Cases 690 (762)" . _:5ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 505; "DMS type 2 diabetes cases and controls in the SIGMA T2D dataset, before QC (table row), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4127086/"; rdfs:comment "Diabetes in Mexico Study (DMS) Mexico City, Mexico Prospective Cohort Controls 472 (505) 25.8% 52.5 ± 7.7 – 28.0 ± 4.4 5.0 ± 0.4 T2D Cases 690 (762)" . _:5ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid787; , ; "EGAS00001001875", "GCST90132306"; "A randomised trial cohort of people with impaired glucose tolerance and elevated fasting glucose recruited at 27 United States centres to compare lifestyle intervention, metformin and placebo for delaying or preventing type 2 diabetes."; 3234; "DPP"; , ; rdfs:label "Diabetes Prevention Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid787 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid787; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10189543+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Diabetes Prevention Program is a randomized clinical trial testing strategies to prevent or delay the development of type 2 diabetes in high-risk individuals with elevated fasting plasma glucose concentrations and impaired glucose tolerance." . _:5af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.niddk.nih.gov/about-niddk/research-areas/diabetes/diabetes-prevention-program-dpp"; rdfs:comment "The DPP was a randomized, controlled clinical trial conducted at 27 clinical centers around the United States from 1996 to 2001." . _:5b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001875"; "Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin."; "PMID:27500523", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5007158/fullTextXML"; rdfs:comment "In the DPP cohort of pre-diabetes participants, Cox proportional hazards regression was used to evaluate the genetic impact on the time to diabetes incidence" . _:5b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132306"; "Genetic Architecture of Plasma Alpha-Aminoadipic Acid Reveals a Relationship With High-Density Lipoprotein Cholesterol."; "PMID:35621206", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9238724/fullTextXML"; rdfs:comment "The DPP (Diabetes Prevention Program) was a randomized clinical trial" . _:5b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of people with impaired glucose tolerance and elevated fasting glucose recruited at 27 United States centres to compare lifestyle intervention, metformin and placebo for delaying or preventing type 2 diabetes."; "PMID:10189543"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3234; "participants randomised"; "PMID:11832527"; rdfs:comment "We randomly assigned 3234 nondiabetic persons with elevated fasting and post-load plasma glucose concentrations to placebo, metformin (850 mg twice daily), or a lifestyle-modification program with the goals of at least a 7 percent weight loss and at least 150 minutes of physical activity per week." . _:5b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid795; "PMID:20628086"; "A randomised trial cohort of people with impaired fasting glucose or impaired glucose tolerance from 21 countries, assigned in a factorial design to ramipril, rosiglitazone or corresponding placebos to evaluate prevention of diabetes and effects on atherosclerosis."; 5269; "DREAM"; rdfs:label "Diabetes Reduction Assessment with Ramipril and Rosiglitazone Medication"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid795 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid795; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15322749+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "People with impaired fasting glucose or impaired glucose tolerance were randomised to ramipril (15 mg/day) or placebo and rosiglitazone (8 mg/day) or placebo with a 2x2 factorial design." . _:5b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20628086"; "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study."; "PMID:20628086", "https://europepmc.org/articles/PMC2945168"; rdfs:comment "We genotyped 4,197 participants of the multiethnic DREAM (Diabetes REduction Assessment with ramipril and rosiglitazone Medication) trial" . _:5b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of people with impaired fasting glucose or impaired glucose tolerance from 21 countries, assigned in a factorial design to ramipril, rosiglitazone or corresponding placebos to evaluate prevention of diabetes and effects on atherosclerosis."; "PMID:15322749"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5269; "participants randomised"; "https://doi.org/10.1007/s00125-004-1485-5"; rdfs:comment "During this period a total of 191 clinical sites in 21 countries screened 24,872 individuals and randomised 5269 participants using a variety of recruitment strategies (Table 2)." . _:5b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DREAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid801, _:genid-371333f489424440b12a13b9d98ced822608-genid803; , , , , , ; ; "GCST90255674"; "A project combining prospective European cohorts of people with prediabetes and newly diagnosed type 2 diabetes to discover biomarkers of glycaemic deterioration, treatment response and diabetes subtypes through repeated metabolic and molecular assessment."; "DIRECT", "IMI DIRECT"; ; rdfs:label "Diabetes Research on Patient Stratification"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid801 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid803 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid801; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24695864+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Prediabetic participants (target sample size 2,200-2,700) and patients with newly diagnosed type 2 diabetes (target sample size ~1,000) are undergoing detailed metabolic phenotyping at baseline and 18 months and 36 months later." . _:5bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid803; "prediabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24695864+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Prediabetic participants (target sample size 2,200-2,700) and patients with newly diagnosed type 2 diabetes (target sample size ~1,000) are undergoing detailed metabolic phenotyping at baseline and 18 months and 36 months later." . _:5bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4018481/fullTextXML"; rdfs:comment "Participants in Study 1 were recruited from existing prospective cohort studies in or around each of the following European cities: Malmö, Sweden (Malmö Diet and Cancer Study [ 12 ]); Amsterdam, The Netherlands (Hoorn Study [ 3 ]); Copenhagen, Denmark (Inter99 [ 10 ]); and Kuopio, Finland […] Participants in Study 2 of DIRECT are recruited from or nearby each of the following European cities: Malmö, Sweden; Amsterdam, the Netherlands; Copenhagen, Denmark; Exeter, UK; Newcastle, UK; Dundee, UK" . _:5bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255674"; "Pharmacogenomics of GLP-1 receptor agonists: a genome-wide analysis of observational data and large randomised controlled trials."; "PMID:36528349", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A36528349+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "four prospective observational cohorts (DIRECT, PRIBA, PROMASTER, and GoDARTS)" . _:5be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining prospective European cohorts of people with prediabetes and newly diagnosed type 2 diabetes to discover biomarkers of glycaemic deterioration, treatment response and diabetes subtypes through repeated metabolic and molecular assessment."; "PMID:24695864"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIRECT"; . _:5c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMI DIRECT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid810; , ; "GCST000340"; "A cohort of residents of Dortmund recruited during 2003–2004 and followed through questionnaires to investigate the frequency and consequences of headache and other chronic conditions, including their relationships with social factors."; "The acronym DHS also denotes Diabetes Heart Study (COHO:0000460), deCODE Health Study (COHO:0000468) and Dallas Heart Study (COHO:0001309); this term is Dortmund Health Study."@en; 2291; "DHS"; ; rdfs:label "Dortmund Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid810 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid810; "headache"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22736161+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the population-based Dortmund health study (DHS) is the assessment of the prevalence and incidence of different headache types as well as other chronic conditions and to analyse their consequences on daily activities of those affected." . _:5c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7213856/fullTextXML"; rdfs:comment "We included cross-sectional data of five population-based longitudinal cohort studies from different areas of Germany: the Dortmund Health Study (DHS) conducted in the city of Dortmund" . _:5c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000340"; "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants."; "PMID:19198609", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=2681011"; rdfs:comment "Acute MI Gene Study/Dortmund Health Study" . _:5c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of residents of Dortmund recruited during 2003–2004 and followed through questionnaires to investigate the frequency and consequences of headache and other chronic conditions, including their relationships with social factors."; "PMID:22736161"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2291; "participants recruited 2003-2004"; "PMID:22736161"; rdfs:comment "From 2003 to 2004 overall 2,291 participants were recruited into the study, 1,312 attended the study centre and the others participated by answering a mailed questionnaire." . _:5c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHS"; . a owl:NamedIndividual, ; , ; "GCST004077"; "A cohort of adults in the United States with cognitive and genetic measurements contributing to research on genetic influences on general cognitive function."; "The acronym DCC also denotes APCDR Diabetes Case Control Study (COHO:0000218); this term is Duke Cognition Cohort."; 1193; "DCC", "DuMS", "Duke Memory study"; ; rdfs:label "Duke Cognition Cohort"@en . _:5c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5322272/fullTextXML"; rdfs:comment "DCC Duke Cognition Cohort USA" . _:5c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004077"; "GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium."; "PMID:28093568", "https://europepmc.org/articles/PMC5322272"; rdfs:comment "DCC Duke Cognition Cohort USA" . _:5c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults in the United States with cognitive and genetic measurements contributing to research on genetic influences on general cognitive function."; "PMID:28093568"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1193; "DCC participants in the COGENT meta-analysis (analysed subset, table row), 2017"; "https://europepmc.org/api/getPdf?pmcid=PMC5322272"; rdfs:comment "DCC Duke Cognition Cohort USA 1193 27.1 11.6 18 77 558 0.47" . _:5cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCC"; . _:5cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DuMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid823; , ; "EGAS00001004410"; "A cohort of patients with high-grade serous ovarian cancer whose matched tumour and blood samples were collected through the Dundee bioresource facility, one of the four Scottish collection sites (Edinburgh, Glasgow, Dundee and Aberdeen) of the Scottish High Grade Serous Ovarian Cancer whole-genome sequencing study."; ; rdfs:label "DUNDEE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid823 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid823; "high-grade serous ovarian cancer"; "https://ega-archive.org/studies/EGAS00001004410"; rdfs:comment "HGSOC patients were determined from pathology records and were included in the study where there was matched tumour and whole blood samples." . _:5ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004410"; rdfs:comment "Scottish HGSOC samples were collected via local Bioresource facilities at Edinburgh, Glasgow, Dundee and Aberdeen" . _:5cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004410"; "Scottish High Grade Serous Ovarian Cancer" . _:5d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with high-grade serous ovarian cancer whose matched tumour and blood samples were collected through the Dundee bioresource facility, one of the four Scottish collection sites (Edinburgh, Glasgow, Dundee and Aberdeen) of the Scottish High Grade Serous Ovarian Cancer whole-genome sequencing study."; "https://ega-archive.org/studies/EGAS00001004410"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid828; , , ; , , ; "EGAS00001002583", "GCST90101745"; "A cohort of urban Black residents of eThekwini Municipality, South Africa, assessed in a population-based cross-sectional survey combining questionnaires, clinical measurements, biomarkers and genetic data to investigate chronic diseases and their risk factors."; 1204; "APCDR Durban Diabetes Study", "DDS"; , ; rdfs:label "Durban Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid828 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid828; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5732575/fullTextXML"; rdfs:comment "We therefore established the DDS as a population-based research framework to investigate a broad range of lifestyle, medical and genetic factors and their association with diabetes – the primary research focus of the study – together with other chronic diseases and traits" . _:5d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4999239/"; rdfs:comment "residing in urban black African communities in Durban (eThekwini municipality) in KwaZulu-Natal (South Africa)" . _:5d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002583"; "APCDR Durban Diabetes Study (DDS)"; "https://ega-archive.org/studies/EGAS00001002583"; rdfs:comment "APCDR Durban Diabetes Study (DDS) Population-based cross-sectional survey using multistage cluster sampling of adults aged ≥18 years in Durban (eThekwini municipality), KwaZulu-Natal" . _:5d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101745"; "Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits."; "PMID:35546142", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9095599/fullTextXML"; rdfs:comment "Durban Diabetes Study" . _:5d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of urban Black residents of eThekwini Municipality, South Africa, assessed in a population-based cross-sectional survey combining questionnaires, clinical measurements, biomarkers and genetic data to investigate chronic diseases and their risk factors."; "PMID:29276614"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1204; "participants recruited to date (interim, recruitment ongoing)"; "PMID:29276614"; rdfs:comment "Of the 1204 participants recruited to date, 28.3% (341) are men compared with 48.2% found in the general population census data." . _:5d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid836, _:genid-371333f489424440b12a13b9d98ced822608-genid838; ; , , ; "EGAS00001000681", "GCST90278455"; "A randomised trial cohort of current and former smokers selected from the Dutch and Belgian general population to compare low-dose computed-tomography screening with no screening for reduction of lung-cancer mortality."; 15428; "NELSON", "NELSON trial", "NELSON-study"; , ; rdfs:label "Dutch and Belgian Lung Cancer Screening Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid836 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid838 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid836; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17131307+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "NELSON investigates whether 16-detector multi-slice computed tomography screening will decrease lung cancer mortality compared to no screening." . _:5d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid838; "smoking exposure (years smoked, cigarettes/day, years quit)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17131307+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Inviting current and former smokers (quit 15 cigarettes/day during >25 years or >10 cigarettes/day during >30 years was most optimal." . _:5da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10121576/"; rdfs:comment "15 822 participants from the Netherlands and Belgium were registered up until July 2006." . _:5db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000681"; "Genome-wide SNP-SNP interactions in COPD"; "https://ega-archive.org/studies/EGAS00001000681"; rdfs:comment "We used the NELSON cohort as a discovery set, comprising 1,030 cases and 1,808 controls, and the LifeLines cohort as a replication set, with 711 cases and 3,013 controls." . _:5dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90278455"; "Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification."; "PMID:37770635", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01518-4/MediaObjects/41588_2023_1518_MOESM4_ESM.xlsx#text"; rdfs:comment "NELSON; European Ancestry; Dutch Minister of Health" . _:5dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of current and former smokers selected from the Dutch and Belgian general population to compare low-dose computed-tomography screening with no screening for reduction of lung-cancer mortality."; "PMID:17131307"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15428; "participants randomised by 18 October 2005 (two recruitment rounds)"; "PMID:17131307"; rdfs:comment "Until October 18, 2005 11,103 (first recruitment round) and 4,325 (second recruitment round) (total = 15,428) participants have been randomised." . _:5df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NELSON"; . a owl:NamedIndividual, ; , ; ; "EGAS00001005027", "GCST90027688"; "A cohort of Dutch Lifelines participants providing faecal samples for metagenomic characterisation of gut microbial composition, function, virulence and antibiotic resistance in relation to health."; 8208; "DMP", "Lifelines Dutch Microbiome Project"; , ; rdfs:label "Dutch Microbiome Project"@en . _:5e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://groningenmicrobiome.org/?page_id=14"; rdfs:comment "collect and analyze gut microbiome samples in ~10,000 participants from the Northern Netherlands" . _:5e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00992-y/MediaObjects/41588_2021_992_MOESM2_ESM.pdf"; rdfs:comment "This study used a subset of 8,208 volunteers from the Lifelines population cohort, enrolled in a parallel project: The Dutch Microbiome Project (DMP)." . _:5e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005027"; "The Dutch Microbiome Project: Defining the (un)healthy gut microbiome"; "https://ega-archive.org/studies/EGAS00001005027"; rdfs:comment "The Dutch Microbiome Project (DMP) data includes raw data generated by shotgun metagenomic sequencing of faecal samples of 8,208 Dutch individuals" . _:5e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027688"; "Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project."; "PMID:35115690", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:35115690%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "To robustly characterize these effects, we performed a genome-wide association study of 207 taxa and 205 pathways representing microbial composition and function in 7,738 participants of the Dutch Microbiome Project." . _:5e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Dutch Lifelines participants providing faecal samples for metagenomic characterisation of gut microbial composition, function, virulence and antibiotic resistance in relation to health."; "https://metadata.ega-archive.org/studies/EGAS00001005027"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8208; "Lifelines participants with sequenced faecal metagenomes (2021)"; "https://metadata.ega-archive.org/studies/EGAS00001005027"; rdfs:comment "The Dutch Microbiome Project (DMP) data includes raw data generated by shotgun metagenomic sequencing of faecal samples of 8,208 Dutch individuals, processed microbiome data analysed using Biobakery2 tools (including taxonomy, pathway, virulence factors and antibiotic resistance gene profiles), and basic phenotypes (age and sex, BMI)." . _:5e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid853; , ; "EGAS00000000103", "GCST90301368"; "A cohort of patients with recent stroke recruited at Western General Hospital in Edinburgh, United Kingdom, from April 2002 to May 2005 and followed prospectively to investigate inflammatory markers, disability and mortality after stroke."; 1408; "ESS"; , ; rdfs:label "Edinburgh Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid853; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2730573/fullTextXML"; rdfs:comment "We prospectively recruited all consenting patients with recent stroke from the emergency department; medical, neurology, and occasionally other (e.g., surgical) wards; stroke unit; and neurovascular clinics of the Western General Hospital, Edinburgh, United Kingdom, between April 2002 and May 2005 into the Edinburgh Stroke Study" . _:5e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2730573/fullTextXML"; rdfs:comment "We prospectively recruited all consenting patients with recent stroke from the emergency department; medical, neurology, and occasionally other (e.g., surgical) wards; stroke unit; and neurovascular clinics of the Western General Hospital, Edinburgh, United Kingdom, between April 2002 and May 2005 into the Edinburgh Stroke Study" . _:5e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000103"; "Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke."; "PMID:22306652", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3303115/fullTextXML"; rdfs:comment "We thank the following who contributed to collection, phenotyping, sample processing and data management for the different cohorts. [...] Edinburgh Stroke Study:" . _:5ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457" . _:5eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with recent stroke recruited at Western General Hospital in Edinburgh, United Kingdom, from April 2002 to May 2005 and followed prospectively to investigate inflammatory markers, disability and mortality after stroke."; "PMID:19901973"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1408; "stroke patients assessed April 2002 - May 2005"; "PMID:19901973"; rdfs:comment "We assessed 1,408 patients, of whom 844 (60%) had blood drawn for markers of inflammation." . _:5ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ESS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid861; "GCST90559230"; "A randomised trial cohort of people with atrial fibrillation in the multinational Effective Anticoagulation with Factor Xa Next Generation in Atrial Fibrillation–Thrombolysis in Myocardial Infarction 48 (ENGAGE AF-TIMI 48) trial, comparing edoxaban with warfarin for prevention of stroke and systemic embolism, with recruitment beginning in November 2008."; "The acronym ENGAGE also denotes European Network for Genetic And Genomic Epidemiology (COHO:0002719); this term is ENGAGE AF-TIMI 48."@en; 21105; "ENGAGE", "ENGAGE_AF-TIMI_48"; ; rdfs:label "ENGAGE AF-TIMI 48"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid861 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:5ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid861; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20934556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ENGAGE AF-TIMI 48 is a phase 3 comparison of the novel oral factor Xa inhibitor edoxaban to warfarin for the prevention of thromboembolism in patients with atrial fibrillation." . _:5ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559230"; "Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases."; "PMID:40050429", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf#text"; rdfs:comment "ENGAGE AF-TIMI 48 (TIMI 48)" . _:5f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of people with atrial fibrillation in the multinational Effective Anticoagulation with Factor Xa Next Generation in Atrial Fibrillation–Thrombolysis in Myocardial Infarction 48 (ENGAGE AF-TIMI 48) trial, comparing edoxaban with warfarin for prevention of stroke and systemic embolism, with recruitment beginning in November 2008."; "PMID:20934556"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 21105; "patients randomised"; "PMID:24251359"; rdfs:comment "We conducted a randomized, double-blind, double-dummy trial comparing two once-daily regimens of edoxaban with warfarin in 21,105 patients with moderate-to-high-risk atrial fibrillation (median follow-up, 2.8 years)." . _:5f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENGAGE"; . _:5f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENGAGE_AF-TIMI_48"; . a owl:NamedIndividual, ; , , ; , ; "EGAS00001001245", "GCST011890", "PMID:26124090"; "A project combining population-based genomic data from northeastern, southeastern and southern Brazil to investigate ancestry, admixture, kinship, inbreeding and deleterious genetic variation, known as the EPIGEN Brazil Initiative."; 6487; "EPIGEN-Brazil Initiative"; , ; rdfs:label "EPIGEN"@en . _:5f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9952852/unicode"; rdfs:comment "We performed admixture mapping (followed by fine-mapping) of BMI using data of ~2.3 million SNPs for three Brazilian population-based cohorts, from Northeast (Salvador), Southeast (Bambuí), and South (Pelotas), with distinct admixture and socio-demographic backgrounds, studied by the EPIGEN-Brazil Initiative (https://epigen.grude.ufmg.br,)." . _:5f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9952852/unicode"; rdfs:comment "We performed admixture mapping (followed by fine-mapping) of BMI using data of ~2.3 million SNPs for three Brazilian population-based cohorts, from Northeast (Salvador), Southeast (Bambuí), and South (Pelotas), with distinct admixture and socio-demographic backgrounds, studied by the EPIGEN-Brazil Initiative (https://epigen.grude.ufmg.br,)." . _:5f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4669662/fullTextXML"; rdfs:comment "The SCAALA composes the EPIGEN-Brazil initiative, it is based on three well-defined ongoing population-based cohorts from Brazil’s regions" . _:5f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/26124090"; rdfs:comment "three populations with different histories from the Northeast (African ancestry: 50%), Southeast, and South (both with European ancestry >70%) of Brazil" . _:5f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001245"; "Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations."; "PMID:26124090", "https://ega-archive.org/studies/EGAS00001001245"; rdfs:comment "The EPIGEN-Brasil Initiative is so far the largest Latin American initiative in population genomics and genetic epidemiology." . _:5f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST011890"; "Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits."; "PMID:33603002", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7893038/fullTextXML"; rdfs:comment "We used the genotype data (Illumina Infinium Omni2.5) from 1442 participants from the Bambui Study in the context of the EPIGEN project39." . _:5fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26124090"; "Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations."; "PMID:26124090", "https://europepmc.org/article/MED/26124090"; rdfs:comment "We present the results of the EPIGEN Brazil Initiative" . _:5fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining population-based genomic data from northeastern, southeastern and southern Brazil to investigate ancestry, admixture, kinship, inbreeding and deleterious genetic variation, known as the EPIGEN Brazil Initiative."; "PMID:26124090"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:5fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6487; "genotyped individuals from the three member cohorts in the flagship 2015 analysis"; "PMID:26124090"; rdfs:comment "A population-based genome-wide analysis of 6,487 individuals was performed in the context of worldwide genomic diversity to elucidate how ancestry, kinship, and inbreeding interact in three populations with different histories from the Northeast (African ancestry: 50%), Southeast, and South (both with European ancestry >70%) of Brazil." . a owl:NamedIndividual, ; , ; , , , , , ; "EGAS00001001134", "GCST90239992"; "A cohort of descendants of 22 founder families and their spouses in southwest Netherlands, examined from 2002 to 2005 as part of the Genetic Research in Isolated Populations programme to identify genetic risk factors for complex disorders."; 2065; "ERF", "Erasmus Rucphen Family"; , ; rdfs:label "Erasmus Rucphen Family Study"@en . _:5fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pure.eur.nl/files/46334370/Koolwijk_%20Leonieke%20Maria%20Elisabeth%20van.pdf"; rdfs:comment "The ERF study is being conducted in a genetically isolated population located in the southwest of the Netherlands." . _:5fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001134"; "Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking."; "PMID:25758996", "https://ega-archive.org/studies/EGAS00001001134"; rdfs:comment "Genome-wide association analysis on five isolated populations - Erasmus Rucphen Family (ERF) Study" . _:5ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239992"; "Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels."; "PMID:26068415" . _:6002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of descendants of 22 founder families and their spouses in southwest Netherlands, examined from 2002 to 2005 as part of the Genetic Research in Isolated Populations programme to identify genetic risk factors for complex disorders."; "https://dss.niagads.org/cohorts/erasmus-rucphen-family-erf/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2065; "participants examined June 2002 to February 2005"; "https://dss.niagads.org/cohorts/erasmus-rucphen-family-erf/"; rdfs:comment "Data collection started in June 2002 and was finished in February 2005 (n=2065)." . _:6022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ERF"; . a owl:NamedIndividual, ; ; , ; , , , , , , , , ; "EGAS00001005900", "GCST90245818"; "A biobank of volunteer adults aged at least 18 years resident throughout Estonia, linking blood samples, health examinations and questionnaires with national registries to support population-based genetic and health research."; 212000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/EST-Biobank"; "EB", "EBB", "EGCUT", "EST-Biobank", "EstBB", "Estonia", "Estonian Genome Center of the University of Tartu"; , , , ; rdfs:label "Estonian Biobank"@en; rdfs:seeAlso . _:6032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://genomics.ut.ee/en/content/estonian-biobank"; rdfs:comment "The Estonian Biobank has established a population-based biobank of Estonia" . _:6042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005900"; "Gut metagenome associations with extensive digital health data in a volunteer-based EstMB cohort"; "https://ega-archive.org/studies/EGAS00001005900"; rdfs:comment "As part of the Estonian Biobank, we established the Estonian Microbiome Cohort" . _:6052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90245818"; "Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris."; "PMID:36922633", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11368920/fullTextXML"; rdfs:comment "We carried out a GWAS with the Estonian Biobank (EstBB) cohort data (30,194 cases, 94,694 controls), followed by a meta-analysis of data from three independent cohorts (34,422 affected individuals and 364,991 population controls) of European ancestry." . _:6062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of volunteer adults aged at least 18 years resident throughout Estonia, linking blood samples, health examinations and questionnaires with national registries to support population-based genetic and health research."; "PMID:24518929"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 212000; "individuals enrolled in the open cohort (stated as more than 212 000), 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10881104/fullTextXML"; rdfs:comment "Because the Estonian Biobank is an open cohort, the sample size has now expanded to >212 000 individuals since the publication of the previous cohort profile,1 covering ∼20% of the adult population in Estonia." . _:6082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EB"; . _:6092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EBB"; . _:60a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGCUT"; . _:60b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EST-Biobank"; . _:60c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EstBB"; . _:60d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Estonia"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid894, _:genid-371333f489424440b12a13b9d98ced822608-genid896, _:genid-371333f489424440b12a13b9d98ced822608-genid898, _:genid-371333f489424440b12a13b9d98ced822608-genid900; , , , , ; , , , , , , , , , , ; , , , , , ; "EGAS00001006432", "GCST002466"; "A cohort of men and women, mostly aged 35–70 years, recruited during 1992–2000 at 23 centres in ten European countries and followed prospectively to investigate relationships between nutrition, lifestyle, cancer and other diseases."; 519978; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/EPIC-EUROPE"; "EPIC", "EPIC-EUROPE", "European Investigation of Cancer and Nutrition (EPIC)", "European Prospective Investigation into Cancer and Nutrition", "European Prospective Investigations into Cancer and Nutrition"; , , , ; rdfs:label "European Prospective Investigation into Cancer"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid894 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid896 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid898 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid900 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:60e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid894; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12639222+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC) is an ongoing multi-centre prospective cohort study designed to investigate the relationship between nutrition and cancer, with the potential for studying other diseases as well." . _:60f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid896; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12639222+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC) is an ongoing multi-centre prospective cohort study designed to investigate the relationship between nutrition and cancer, with the potential for studying other diseases as well." . _:6102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid898; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12639222+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC) is an ongoing multi-centre prospective cohort study designed to investigate the relationship between nutrition and cancer, with the potential for studying other diseases as well." . _:6112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid900; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12639222+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC) is an ongoing multi-centre prospective cohort study designed to investigate the relationship between nutrition and cancer, with the potential for studying other diseases as well." . _:6122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13235047/fullTextXML"; rdfs:comment "From 1992 to 2000, EPIC recruited over 500,000 individuals aged 25–70 years across 23 centres in 10 European countries: Denmark, France, Germany, Greece, Italy, the Netherlands, Norway, Spain, Sweden, and the United Kingdom" . _:6132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006432"; "Malignant mesothelioma EWAS on European prospective study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13047241/fullTextXML"; rdfs:comment "European Prospective Investigation into Cancer and Nutrition" . _:6142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002466"; "Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer."; "PMID:24880342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4074058/fullTextXML"; rdfs:comment "IARC-replication comprised three studies: (i) EPIC Lung2,57, a nested case control study performed within the EPIC (European Prospective Investigation into Cancer and Nutrition) prospective cohort totalling 1,119 lung cancer cases and 2,546 controls (matched 1-2 to cases for age, sex, centre, and time of recruitment), selected from eight of the 10 countries participating in EPIC (Sweden, Netherlands, UK, France, Germany, Spain, Italy and Norway);" . _:6152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men and women, mostly aged 35–70 years, recruited during 1992–2000 at 23 centres in ten European countries and followed prospectively to investigate relationships between nutrition, lifestyle, cancer and other diseases."; "PMID:12639222"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 519978; "participants recruited in 23 centres, 10 countries (2002)"; "PMID:12639222"; rdfs:comment "The study currently includes 519 978 participants (366 521 women and 153 457 men, mostly aged 35-70 years) in 23 centres located in 10 European countries, to be followed for cancer incidence and cause-specific mortality for several decades." . _:6172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC"; . _:6182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-EUROPE"; . _:6192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "European Investigation of Cancer and Nutrition (EPIC)"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid910, _:genid-371333f489424440b12a13b9d98ced822608-genid912, _:genid-371333f489424440b12a13b9d98ced822608-genid914, _:genid-371333f489424440b12a13b9d98ced822608-genid916; ; , ; , , ; ; "EGAS00001002570", "GCST90097055", "MTBLS833"; "A cohort of men and women aged 39–79 recruited in Norwich and surrounding Norfolk communities in 1993–1997, followed through questionnaires and examinations to investigate diet, lifestyle and health as part of the European Prospective Investigation of Cancer."; 30445; "EPIC-Norfolk", "EPIC-Norfolk cohort", "European Prospective Investigation into Cancer-Norfolk"; , , ; rdfs:label "European Prospective Investigation of Cancer-Norfolk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid910 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid916 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:61a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid910; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9671801/fullTextXML"; rdfs:comment "The EPIC-Norfolk study (https://www.epic-norfolk.org.uk) is a population-based prospective cohort study, nested within the European Prospective Investigation of Cancer (EPIC) study, which had the primary aim of exploring the connections between cancer, diet and lifestyle." . _:61b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid912; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9671801/fullTextXML"; rdfs:comment "The EPIC-Norfolk study (https://www.epic-norfolk.org.uk) is a population-based prospective cohort study, nested within the European Prospective Investigation of Cancer (EPIC) study, which had the primary aim of exploring the connections between cancer, diet and lifestyle." . _:61c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid914; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9671801/fullTextXML"; rdfs:comment "The EPIC-Norfolk study (https://www.epic-norfolk.org.uk) is a population-based prospective cohort study, nested within the European Prospective Investigation of Cancer (EPIC) study, which had the primary aim of exploring the connections between cancer, diet and lifestyle." . _:61d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid916; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9671801/fullTextXML"; rdfs:comment "The EPIC-Norfolk study (https://www.epic-norfolk.org.uk) is a population-based prospective cohort study, nested within the European Prospective Investigation of Cancer (EPIC) study, which had the primary aim of exploring the connections between cancer, diet and lifestyle." . _:61e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://epic.iarc.fr/centres/uk/"; rdfs:comment "The EPIC-Norfolk cohort comprises 25 639 men and women resident in Norfolk, United Kingdom" . _:61f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs42003-020-0802-y/MediaObjects/42003_2020_802_MOESM1_ESM.pdf"; rdfs:comment "EPIC-Norfolk , one of the UK arms of EPIC, recruited and examined 25,639 participants aged 40-79 years between 1993 and 1997 for the baseline examination9 ." . _:6202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002570"; "Prediction of acute myeloid leukaemia risk in healthy individuals."; "PMID:29988082", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6485381/fullTextXML"; rdfs:comment "Samples were ascertained from individuals enrolled in the EPIC-Norfolk longitudinal cohort study between 1994 and 2010." . _:6212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90097055"; "Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study."; "PMID:34836419", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8620763/fullTextXML"; rdfs:comment "5841 participants from the EPIC-Norfolk study" . _:6222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS833"; "Rare and common genetic determinants of metabolic individuality and their effects on human health."; "PMID:36357675", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS833"; rdfs:comment "Rare and common genetic determinants of metabolic individuality and their effects on human health (EPIC-Norfolk study assays)" . _:6232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men and women aged 39–79 recruited in Norwich and surrounding Norfolk communities in 1993–1997, followed through questionnaires and examinations to investigate diet, lifestyle and health as part of the European Prospective Investigation of Cancer."; "https://www.epic-norfolk.org.uk/about-epic-norfolk/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30445; "people who consented and completed the baseline health questionnaire, 1993-1997"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4121549/fullTextXML"; rdfs:comment "Of these, 30 445 consented to take part and completed a health questionnaire." . _:6252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-Norfolk"; . _:6262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-Norfolk cohort"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid927; , , , , , , ; "EGAS50000000798", "GCST90133314"; "A project combining prospectively recruited patients with metastatic renal cell cancer from 62 European centres and patients from previous studies to identify host and tumour biomarkers that predict response and toxicity during targeted therapy."; 1210; "EuroTARGET"; , ; rdfs:label "EuroTARGET project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid927 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid927; "metastatic renal cell cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28385611+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "EuroTARGET is a European collaborative project designed as an observational study for which patients with mRCC were recruited prospectively in 62 centers." . _:6282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9220885/fullTextXML"; rdfs:comment "Patients were recruited at participating centres in the Netherlands, the United Kingdom, Iceland, Germany, Romania and Spain" . _:6292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000798"; "Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity."; "PMID:28385611", "https://ega-archive.org/studies/EGAS50000000798"; rdfs:comment "EuroTARGET is a European study on mRCC, collecting clinical data, germline DNA, and tumor samples." . _:62a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90133314"; "Genome-Wide Meta-Analysis Identifies Variants in DSCAM and PDLIM3 That Correlate with Efficacy Outcomes in Metastatic Renal Cell Carcinoma Patients Treated with Sunitinib."; "PMID:35740506", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9220885/fullTextXML"; rdfs:comment "a cohort of mRCC patients as recruited by the EuroTARGET consortium" . _:62b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining prospectively recruited patients with metastatic renal cell cancer from 62 European centres and patients from previous studies to identify host and tumour biomarkers that predict response and toxicity during targeted therapy."; "PMID:28385611"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:62c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1210; "patients with metastatic renal cell cancer included (prospective plus previous studies)"; "PMID:28385611"; rdfs:comment "In total, 1,210 patients with mRCC were included." . _:62d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EuroTARGET"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid935, _:genid-371333f489424440b12a13b9d98ced822608-genid937; , ; ; "EGAS00001003635", "GCST90104362", "PMID:32721520", "PXD041694"; "A birth cohort of infants born before 28 weeks of gestation at 14 sites, followed to investigate exposures associated with brain injury and subsequent neurological and developmental outcomes."; 1506; "ELGAN", "ELGAN Study", "ELGAN cohort", "Extremely Low Gestational Age Newborn Study"; , , ; rdfs:label "Extremely Low Gestational Age Newborns"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid937 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:62e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid935; "cerebral palsy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19765918+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Extremely low gestational age newborns (ELGANs) are at increased risk for structural and functional brain abnormalities." . _:62f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid937; "brain damage"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19765918+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Extremely low gestational age newborns (ELGANs) are at increased risk for structural and functional brain abnormalities." . _:6302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ohiostate.elsevierpure.com/en/publications/histologic-chorioamnionitis-and-risk-of-neurodevelopmental-impair/"; rdfs:comment "enrolled extremely preterm newborns from 2002 to 2004 at 14 hospitals in the United States." . _:6312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003635"; "Genome-wide postnatal changes in immunity following fetal inflammatory response."; "PMID:33006196", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8049052/fullTextXML"; rdfs:comment "raw microarray gene expression data files from paired frozen and unfrozen DBS samples from nine neonates of the US ELGAN cohort, where two were affected by FIR and seven were not." . _:6322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104362"; "Innovative computational approaches shed light on genetic mechanisms underlying cognitive impairment among children born extremely preterm."; "PMID:35240980", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8903548/fullTextXML"; rdfs:comment "we utilized samples from the extremely low gestational age newborns (ELGAN) cohort [37], the largest US-based study of children born extremely preterm, to identify genetic factors associated with cognitive impairment at age 10 years." . _:6332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32721520"; "Placental genomic and epigenomic signatures associated with infant birth weight highlight mechanisms involved in collagen and growth factor signaling."; "PMID:32721520", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7855285/unicode"; rdfs:comment "data were leveraged from the previously established Extremely Low Gestational Age Newborns (ELGAN) cohort" . _:6342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD041694"; "Prenatal Metal Exposure Alters the Placental Proteome in a Sex-Dependent Manner in Extremely Low Gestational Age Newborns: Links to Gestational Age."; "PMID:37834424", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD041694"; rdfs:comment "We hypothesized that sex-specific patterns of metal-associated placental protein expression would be observed, and metals presence would be positively associated with the altered expression of inflammation-associated pathways Using samples banked from the Extremely Low Gestational Age Newborn Study (ELGAN), umbilical cord tissue samples were analyzed via ICP-MS/MS for trace elements, and placental samples underwent a global untargeted proteomics analysis via LC-MS/MS." . _:6352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of infants born before 28 weeks of gestation at 14 sites, followed to investigate exposures associated with brain injury and subsequent neurological and developmental outcomes."; "PMID:19765918"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1506; "infants born before 28 weeks enrolled at 14 sites"; "PMID:19765918"; rdfs:comment "We enrolled 1506 ELGANs born before 28 weeks gestation at 14 sites; 1201 (80%) survived to 2 years corrected age." . _:6372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELGAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid947; , ; "GCST004639", "PMID:30624603"; "A cohort of participants receiving fish-oil supplementation for six weeks, with triglyceride measurements and genotyping used to investigate inherited variation in the metabolic response to omega-3 fatty acids."; 254; "FAS"; ; rdfs:label "Fatty Acid Sensor Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid947 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid947; "omega-3 fatty acid supplementation (fish oil)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30624603+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 208 participants of the Fatty Acid Sensor (FAS) Study received 5 g fish oil/d, containing 1.9-2.2 g eicosapentaenoic acid and 1.1 g docosahexanoic acid, for 6 wk." . _:6392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://eprints.soton.ac.uk/427434/1/revised_article_1_postJuanVrai_FINAL_black.pdf"; rdfs:comment "254 healthy Canadian Caucasian subjects living in the Quebec City metropolitan area were recruited into the FAS study" . _:63a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004639"; "Genome-Wide Association Study of Dietary Pattern Scores."; "PMID:28644415", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5537769/fullTextXML"; rdfs:comment "One hundred and forty-one individuals were selected among the 210 participants who completed the Fatty Acid Sensor (FAS) study, primarily aiming to understand how genes and environment act together to define CVD risk profile [26]." . _:63b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30624603"; "Fine mapping of genome-wide association study signals to identify genetic markers of the plasma triglyceride response to an omega-3 fatty acid supplementation."; "PMID:30624603", "https://europepmc.org/article/MED/30624603"; rdfs:comment "A total of 208 participants of the Fatty Acid Sensor (FAS) Study" . _:63c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of participants receiving fish-oil supplementation for six weeks, with triglyceride measurements and genotyping used to investigate inherited variation in the metabolic response to omega-3 fatty acids."; "PMID:30624603"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:63d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 254; "healthy subjects recruited September 2009 to December 2011"; "https://europepmc.org/api/getPdf?pmcid=PMC6358031"; rdfs:comment "A total of 254 healthy Canadian Caucasian subjects living in the Quebec City metropolitan area were recruited into the FAS study from September 2009 to December 2011 using announcements in local newspapers, as well as electronic messages sent to students and employees of Université Laval (Quebec)." . _:63e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAS"; . a owl:NamedIndividual, ; , , , ; , ; , , ; "GCST90032674"; "A project combining longitudinal Finnish twin cohorts established in the 1970s and 1990s, including the older twin cohort, FinnTwin12 and FinnTwin16, with repeated phenotyping and molecular measurements for investigation of health and disease."; "The acronym FTC also denotes NCI Familial Testicular Cancer Study (COHO:0000825) and Older Finnish Twin Cohort (COHO:0001728); this term is Finnish Twin Cohort Study."@en; "FTC", "FinnTwin", "Finnish Twin Cohort"; ; rdfs:label "Finnish Twin Cohort Study"@en . _:63f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7108792/fullTextXML"; rdfs:comment "This review offers an update on research conducted with FinnTwin12 (FT12), the youngest of the three Finnish Twin Cohorts." . _:6402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4583245/fullTextXML"; rdfs:comment "The NAG-FIN sample was ascertained from the Older Finnish Twin Cohort consisting of adult twins born in 1938–1957." . _:6412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23298696+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Three cohorts have been established: the older twin cohort in the 1970s, and the Finntwin12 and Finntwin16 studies initiated in the 1990s." . _:6422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23298696+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Three cohorts have been established: the older twin cohort in the 1970s, and the Finntwin12 and Finntwin16 studies initiated in the 1990s." . _:6432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1521926/"; rdfs:comment "both twins were living and residing in Finland at the age of 16." . _:6442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90032674"; "Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke."; "PMID:34668383", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8751832/fullTextXML"; rdfs:comment "the Finnish Twin Cohort study consists of Finnish adult twins" . _:6452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining longitudinal Finnish twin cohorts established in the 1970s and 1990s, including the older twin cohort, FinnTwin12 and FinnTwin16, with repeated phenotyping and molecular measurements for investigation of health and disease."; "PMID:23298696"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTC"; . _:6472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinnTwin"; . a owl:NamedIndividual, ; , , ; , ; ; "EGAS00001000020", "GCST90134247"; "A project combining independently sampled Finnish adult population cohorts recruited through five-yearly health surveys during 1972–2012 and followed through national registers to monitor risk factors, health behaviours and non-communicable disease."; , ; rdfs:label "FINRISK"@en . _:6482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000143"; rdfs:comment "will produce whole genome sequencing with 1x coverage on a subset of the Finrisk 2012 sample collection" . _:6492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5465852/fullTextXML"; rdfs:comment "The DIetary, Lifestyle and Genetic determinants of Obesity and Metabolic syndrome (DILGOM) study was conducted in the framework of the National FINRISK study, which is a Finnish population-based chronic disease risk factor monitoring survey carried out at 5-year intervals since 1972" . _:64a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC4210840"; rdfs:comment "FINRISK surveys 1992, 1997 and 2002 were included in the current analysis." . _:64b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8183175/fullTextXML"; rdfs:comment "The FINRISK studies were cross‐sectional population surveys carried out in Finland in a systematic and standardized fashion every 5 years since 1972" . _:64c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000020"; "Genetic_variation_in_Kuusamo"; "https://ega-archive.org/studies/EGAS00001000020"; rdfs:comment "individuals from the FINRISK study both of whose parents are born in Kuusamo, Posio or Taivalkoski" . _:64d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134247"; "Identification of healthspan-promoting genes in Caenorhabditis elegans based on a human GWAS study."; "PMID:35748965", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9388463/fullTextXML"; rdfs:comment "We performed two genome-wide association studies using Finnish FINRISK population surveys from the years 1992, 1997, 2002 and 2007." . _:64e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining independently sampled Finnish adult population cohorts recruited through five-yearly health surveys during 1972–2012 and followed through national registers to monitor risk factors, health behaviours and non-communicable disease."; "PMID:29165699"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . a owl:NamedIndividual, ; , ; "EGAS00001001689", "GCST90002250"; "A cohort of volunteers from Flanders, Belgium, with health and lifestyle questionnaires, biological samples and genetic data assembled to investigate relationships between the gut microbiome, health and lifestyle."; 5000; "FGFP"; , ; rdfs:label "Flemish Gut Flora Project"@en . _:64f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001001689"; rdfs:comment "we studied well-phenotyped individuals from the Flemish Gut Flora Project (FGFP, N=1,106, Belgium)" . _:6502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001689"; "Flemish_Gut_Flora_Project"; "https://ega-archive.org/studies/EGAS00001001689"; rdfs:comment "individuals from the Flemish Gut Flora Project" . _:6512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002250"; "GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome."; "PMID:34957435", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8654685/fullTextXML"; rdfs:comment "These include UK Biobank (UKBB; n = 163,616), LifeLines-DEEP (LLD; n = 942), the Genes for Good study (GFG; n = 1,069), the Flemish Gut Flora Project (FGFP; n = 2,001), and the Population-based Colonoscopy study (PopCol; n = 247) (Table S1; STAR Methods)." . _:6522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of volunteers from Flanders, Belgium, with health and lifestyle questionnaires, biological samples and genetic data assembled to investigate relationships between the gut microbiome, health and lifestyle."; "PMID:34957435"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5000; "participants providing stool samples (stated as more than 5000)"; "https://vib.be/en/research-and-impact/research-areas/microbiology/flemish-gut-flora-project"; rdfs:comment "We collect and examine stool samples from more than 5000 participants." . _:6542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FGFP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid977, _:genid-371333f489424440b12a13b9d98ced822608-genid979, _:genid-371333f489424440b12a13b9d98ced822608-genid981; , , , , ; ; "EGAS00000000077", "GCST003682", "PMID:21345099"; "A multi-phase, stratified, cross-sectional population-based survey of school-aged children in rural regions of southern Germany, Austria and Switzerland and in Poland, run from 2006 within the EU-funded GABRIEL project: a screening questionnaire (phase I), a stratified random subsample with detailed farm-exposure questionnaires and blood, genetic and environmental samples (phase II), and in Bavaria an in-depth respiratory and environmental assessment (phase III), to determine the factors in farming environments that protect against asthma and atopic disease."; 103219; "GABRIEL (a multidisciplinary study to identify the genetic and environmental causes of asthma in the European Community) Advanced studies", "GABRIEL Advanced Studies", "GABRIEL Advanced Survey", "GABRIEL Advanced Surveys", "GABRIEL-AS", "GABRIELA", "GAS"; , ; rdfs:label "Gabriel Advanced Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid977 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid979 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid981 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid977; "exposure to farming environments", "specific exposures to cows, straw, and farm milk"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21819425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GABRIEL Advanced Surveys (GABRIELA) were conducted to determine factors in farming environments which are fundamental to protecting against asthma and atopic disease." . _:6562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid979; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21819425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GABRIEL Advanced Surveys (GABRIELA) were conducted to determine factors in farming environments which are fundamental to protecting against asthma and atopic disease." . _:6572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid981; "atopic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21819425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GABRIEL Advanced Surveys (GABRIELA) were conducted to determine factors in farming environments which are fundamental to protecting against asthma and atopic disease." . _:6582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23621318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In rural Poland, 23 331 families of schoolchildren completed a questionnaire enquiring into farming practices and allergic diseases (Phase I)." . _:6592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22534534+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In rural regions of Austria, Germany, and Switzerland, 79,888 school-aged children answered a recruiting questionnaire (phase I)." . _:65a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000077"; "A large-scale, consortium-based genomewide association study of asthma."; "PMID:20860503", "https://ega-archive.org/studies/EGAS00000000077"; rdfs:comment "Gabriel samples from the German Gabriel Advanced Survey" . _:65b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003682"; "Genome-wide search identifies a gene-gene interaction between 20p13 and 2q14 in asthma."; "PMID:27387956", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4936310/fullTextXML"; rdfs:comment "The largest sub-study available, GABRIEL-AS (GABRIEL Advanced Surveys), was used as a screening dataset." . _:65c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21345099"; "Exposure to environmental microorganisms and childhood asthma."; "PMID:21345099", "https://europepmc.org/article/MED/21345099"; rdfs:comment "GABRIELA (Multidisciplinary Study to Identify the Genetic and Environmental Causes of Asthma in the European Community [GABRIEL] Advanced Study)" . _:65d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-phase, stratified, cross-sectional population-based survey of school-aged children in rural regions of southern Germany, Austria and Switzerland and in Poland, run from 2006 within the EU-funded GABRIEL project: a screening questionnaire (phase I), a stratified random subsample with detailed farm-exposure questionnaires and blood, genetic and environmental samples (phase II), and in Bavaria an in-depth respiratory and environmental assessment (phase III), to determine the factors in farming environments that protect against asthma and atopic disease."; "PMID:21819425", "PMID:22534534", "PMID:23621318", "PMID:34155719"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:65e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 103219; "children in the phase I screening survey"; "PMID:21819425"; rdfs:comment "In a first-screening phase, a comprehensive population-based survey was conducted to assess the prevalence of exposure to farming environments and of asthma and atopic diseases (n = 103,219)." . _:65f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABRIEL-AS"; . _:6602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABRIELA"; . _:6612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAS"; . a owl:NamedIndividual, ; , ; "EGAS00001003018", "GCST90255688"; "A cohort of adults aged 40–65 years in Catalonia, Spain, followed prospectively in Genomes for Life (GCAT) to assess epidemiological, genomic and epigenomic contributions to chronic disease."; 20000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GCAT"; "GCAT", "Genomes For Life- Cohort study of the Genomes of Catalonia"; , , ; rdfs:label "GCAT Genomes for Life"@en . _:6622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5875652/fullTextXML"; rdfs:comment "designed to recruit the general population of the north-east region of Spain, Catalonia" . _:6632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003018"; "GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia."; "PMID:29593016", "https://ega-archive.org/studies/EGAS00001003018"; rdfs:comment "GCAT | Genomes for life: cohort study of the genomes of Catalonia" . _:6642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255688"; "Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort."; "PMID:36672889", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9859115/fullTextXML"; rdfs:comment "Genetic analysis was conducted in a subsample of the GCAT cohort (GCATcore) that is fully genotyped by SNP-array and imputation." . _:6652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 40–65 years in Catalonia, Spain, followed prospectively in Genomes for Life (GCAT) to assess epidemiological, genomic and epigenomic contributions to chronic disease."; "PMID:29593016"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "volunteers recruited 2014-2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11515386/fullTextXML"; rdfs:comment "The GCAT cohort comprises 20,000 volunteers, recruited between 2014 and 2018, from Catalan general population, aged between 40 and 65 years old at the time of recruitment, and 59.16% women." . _:6672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCAT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid999; , ; "PMID:26406445"; "A case-control collection of French women with breast cancer and an affected sister, without a detected BRCA1 or BRCA2 mutation, together with unaffected sisters and unrelated controls. GENESIS (GENE SISters) investigates inherited breast-cancer susceptibility alongside environmental factors and tumour characteristics."; "GENESIS also names the UK GENESIS/DNA Lacunar stroke study; this term is the French GENE SISters breast cancer study."@en; 1721; 1419; 6000; rdfs:label "GENESIS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid999 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid999; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26758370+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibility genes in women attending cancer genetics clinics and with no BRCA1/2 mutation." . _:6692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4583250/"; rdfs:comment "GENESIS (GENE SISters) is a French national study designed to identify new breast cancer susceptibility genes" . _:66a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26406445"; "Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2."; "PMID:26406445", "https://europepmc.org/articles/PMC4583250"; rdfs:comment "GENESIS (GENE SISters) is a French national study" . _:66b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of French women with breast cancer and an affected sister, without a detected BRCA1 or BRCA2 mutation, together with unaffected sisters and unrelated controls. GENESIS (GENE SISters) investigates inherited breast-cancer susceptibility alongside environmental factors and tumour characteristics."; "PMID:26758370"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:66c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1721; "participants included 2007-2013 (stated as over 6000)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4711059/fullTextXML"; rdfs:comment "This is a large study including over 6000 participants, and the biological, clinical and epidemiological data collected are detailed and complete." . _:66d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1419; "participants included 2007-2013 (stated as over 6000)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4711059/fullTextXML"; rdfs:comment "This is a large study including over 6000 participants, and the biological, clinical and epidemiological data collected are detailed and complete." . _:66e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6000; "participants included 2007-2013 (stated as over 6000)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4711059/fullTextXML"; rdfs:comment "This is a large study including over 6000 participants, and the biological, clinical and epidemiological data collected are detailed and complete." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1007; , , , , , , , , , , , , , , , , , , , ; "EGAS00000000101", "GCST009597"; "A case-control collection of people with multiple sclerosis from multiple countries and controls from Sweden, the United Kingdom and published studies, assembled to identify genetic variants associated with multiple-sclerosis susceptibility."; 9772; 17376; "GAMS"; , ; rdfs:label "Genetic Analysis of Multiple Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1007 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:66f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1007; "multiple sclerosis"; "https://metadata.ega-archive.org/studies/EGAS00000000101"; rdfs:comment "We created these data in order to identify genetic variants associated with increased susceptibility to multiple sclerosis. Cases from many parts of the world were genotyped with the Illumina 660 chip along with Swedish controls." . _:6702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182531/supplementaryFiles"; rdfs:comment "a cross-sectional population-based survey conducted in rural areas of Austria, Germany, and Switzerland" . _:6712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000101"; "The Genetic Analysis of multiple sclerosis"; "https://ega-archive.org/studies/EGAS00000000101"; rdfs:comment "The Genetic Analysis of multiple sclerosis" . _:6722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST009597"; "Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility."; "PMID:31604244", "https://pmc.ncbi.nlm.nih.gov/articles/PMC7241648/"; rdfs:comment "The genome wide associations studies used in the discovery phase are available in the following repositories: i) dbGAP: phs000275.v1.p1, phs000139.v1.p1, phs000294.v1.p1, and phs000171.v1.p1, and ii) European Genome-phenome Archive database: EGAD00000000120, EGAD00000000022, and EGAD00000000021." . _:6732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with multiple sclerosis from multiple countries and controls from Sweden, the United Kingdom and published studies, assembled to identify genetic variants associated with multiple-sclerosis susceptibility."; "https://metadata.ega-archive.org/studies/EGAS00000000101"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9772; "cases and controls after QC in the 2011 IMSGC/WTCCC2 GWAS; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182531/fullTextXML"; rdfs:comment "We introduced a number of novel quality control (QC) methods for processing these datasets (see Supplementary Information), which ultimately provided reliable information from 9772 cases and 17376 controls (see Figure 1A)." . _:6752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17376; "cases and controls after QC in the 2011 IMSGC/WTCCC2 GWAS; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182531/fullTextXML"; rdfs:comment "We introduced a number of novel quality control (QC) methods for processing these datasets (see Supplementary Information), which ultimately provided reliable information from 9772 cases and 17376 controls (see Figure 1A)." . _:6762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1016; ; "EGAS00001000913", "GCST002354"; "A consortium of anorexia-nervosa sample collections assembled internationally for genome-wide and exome-array analyses of genetic susceptibility to anorexia nervosa in collaboration with the Wellcome Trust Case Control Consortium 3."; 2907; 14860; "GCAN", "Genetic Consortium for AN"; , ; rdfs:label "Genetic Consortium for Anorexia Nervosa"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1016 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1016; "anorexia nervosa"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4325090/unicode"; rdfs:comment "In recognition of the need for large-scale sample collections to empower GWAS, we established the Genetic Consortium for Anorexia Nervosa (GCAN) in 2007—a worldwide collaboration combining existing DNA samples of AN patients into a single resource." . _:6782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000913"; "WTCCC3_Anorexia_Nervosa"; "https://ega-archive.org/studies/EGAS00001000913"; rdfs:comment "As part of the Genetic Consortium for Anorexia Nervosa" . _:6792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002354"; "A genome-wide association study of anorexia nervosa."; "PMID:24514567", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24514567%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3)." . _:67a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of anorexia-nervosa sample collections assembled internationally for genome-wide and exome-array analyses of genetic susceptibility to anorexia nervosa in collaboration with the Wellcome Trust Case Control Consortium 3."; "https://metadata.ega-archive.org/studies/EGAS00001000913"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:67b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2907; "AN cases and matched controls in the 2014 GCAN/WTCCC3 discovery GWAS; no total stated"; "PMID:24514567"; rdfs:comment "We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3)." . _:67c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14860; "AN cases and matched controls in the 2014 GCAN/WTCCC3 discovery GWAS; no total stated"; "PMID:24514567"; rdfs:comment "We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3)." . _:67d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1024; , , ; ; "GCST90052899"; "A cohort of families in Costa Rica, including extended pedigrees and parent–child trios with asthma probands, assembled to identify common and rare genetic determinants of asthma and related phenotypes through sequencing and family-based analyses."; 4283; "CRA", "GACRS", "Genetic Epidemiology of Asthma in Costa Rica Study", "Genetics of Asthma in Costa Rica Study"; ; rdfs:label "Genetic Epidemiology of Asthma in Costa Rica"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1024 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:67e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1024; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11178010/"; rdfs:comment "In this study, we evaluated the interplay between the plasma metabolome and transcriptome as it relates to total IgE levels among children with asthma from two independent cohorts: 1) the Childhood Asthma Management Program (CAMP) cohort 14 (N=564); and 2) the Genetic Epidemiology of Asthma in Costa Rica Study (GACRS) 15 (N=309)." . _:67f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11178010/"; rdfs:comment "children aged 6–14 years with mild to moderate asthma from 140 schools across the Central Valley of Costa Rica" . _:6802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90052899"; "Novel recessive locus for body mass index in childhood asthma."; "PMID:33888571" . _:6812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of families in Costa Rica, including extended pedigrees and parent–child trios with asthma probands, assembled to identify common and rare genetic determinants of asthma and related phenotypes through sequencing and family-based analyses."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000988.v6.p1"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4283; "consented subjects in the dbGaP/TOPMed release (pedigrees and trios)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000988.v6.p1"; rdfs:comment "Total number of consented subjects: 4283" . _:6832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRA"; . _:6842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GACRS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1032, _:genid-371333f489424440b12a13b9d98ced822608-genid1034; , ; ; "EGAS00001002723", "GCST90132184"; "A case-control collection of people in Greece with schizophrenia, type 2 diabetes or both, analysed alongside population controls from Greek cohorts to investigate shared genetic susceptibility to the two disorders."; 2747; "GOMAP"; , ; rdfs:label "Genetic Overlap between Metabolic and Psychiatric traits"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1032 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1034 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1032; "schizophrenia"; "https://ega-archive.org/studies/EGAS00001002723"; rdfs:comment "The Genetic Overlap between Metabolic and Psychiatric Diseases (GOMAP) study comprises samples from four patient groups: 964 schizophrenia samples, 921 type 2 diabetes patients, 582 patients with comorbid schizophrenia and type 2 diabetes and 280 samples with another psychiatric diagnosis." . _:6862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1034; "type 2 diabetes"; "https://ega-archive.org/studies/EGAS00001002723"; rdfs:comment "The Genetic Overlap between Metabolic and Psychiatric Diseases (GOMAP) study comprises samples from four patient groups: 964 schizophrenia samples, 921 type 2 diabetes patients, 582 patients with comorbid schizophrenia and type 2 diabetes and 280 samples with another psychiatric diagnosis." . _:6872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/30470734"; rdfs:comment "in a Greek sample collection (GOMAP) comprising three patient groups" . _:6882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002723"; "Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia."; "PMID:30470734", "https://ega-archive.org/studies/EGAS00001002723"; rdfs:comment "The Genetic Overlap between Metabolic and Psychiatric Diseases (GOMAP) study comprises samples from four patient groups: 964 schizophrenia samples, 921 type 2 diabetes patients, 582 patients with comorbid schizophrenia and type 2 diabetes and 280 samples with another psychiatric diagnosis." . _:6892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132184"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM3_ESM.xlsx"; rdfs:comment "Genetic Overlap between Metabolic and Psychiatric traits" . _:68a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people in Greece with schizophrenia, type 2 diabetes or both, analysed alongside population controls from Greek cohorts to investigate shared genetic susceptibility to the two disorders."; "PMID:30470734"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:68b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2747; "patients' DNA samples in the GOMAP collection (cases only)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6251918/fullTextXML"; rdfs:comment "The GOMAP (Genetic Overlap between Metabolic and Psychiatric disorders) study comprises a collection of 2,747 DNA samples from four different patient categories: T2D patients, SCZ patients, individuals with both SCZ and T2D (referred to from here on as SCZplusT2D), and individuals with a different psychiatric diagnosis (this last group is not used in further analyses reported here) (Table 1)." . _:68c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOMAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1042; , ; "GCST006085", "PMID:27151655"; "A cohort of men aged 40–69 with a family history of prostate cancer, recruited through London clinics, a UK prostate cancer study and public advertisements to evaluate genetic risk assessment and prostate biopsy for targeted prostate cancer screening."; "The acronym PROFILE also denotes the Crohn's disease trial PRedicting Outcomes For Crohn's disease using a moLecular biomarker (COHO:0000320); this term is the prostate cancer risk study. The EGA study EGAS00001007958 tagged PROFILE is the Crohn's disease trial, not this cohort."@en; 115; "PROFILE"; ; rdfs:label "Genetic Prostate cancer risk stratification for targeted screening"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:68d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1042; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27151655+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The PROFILE pilot study explored the feasibility of using SNP profiling in men with a family history (FH) of PrCa to investigate the probability of detecting PrCa at prostate biopsy (PB)." . _:68e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4912360/fullTextXML"; rdfs:comment "through cancer genetics and uro-oncology clinics at a National Health Service cancer hospital in London" . _:68f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST006085"; "Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci."; "PMID:29892016", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6568012/"; rdfs:comment "Provision of DNA samples and/or phenotypic data: V.L.S., S.M.G., B.D.C., C.M.T., P.J.G., I.M.T., J.B., S.C., L. Moya, J.C., L.H., W.T., G.P.R., H.G., M. Aly, T.N., P. Pharoah, N.P., J.S., T.L.J.T., C. Slavov, A.A., D.A., S.W., A.W., N.H., C.M.L.W., A.M.D., N.B., L.A.M., E.G., G.L.A., O.C.,G.C.T., S.K., L.E.B.F., K.D.S., T.F.O., M.B., L. Maehle, E.M.G., D.E.N., J.L.D., F.C.H., R.M.M., R.C.T., T.J.K., R.J.H., N.E.F., A.F., S.A.I., M.C. Stern, B.S.R., S.L.K., H.O., Y.-J.L., H.-W.Z., N.F., X.M., X.G., G.W., Z.S., G.G.G., M.C. Southey, R.J.M., L.M.F., A.S.K., B.M.K., J. Lubinski, G.C.-V., K.L.P., M.S., J.Y.P., T.A.S., H.-Y.L., J.L.S., C.C., D.W., J. Lim, E.A.O., M.S.G., B.G.N., S.F.N., M.W., R.B., M.A.R., P.I., H.B., K.C., B.H.,C.M., M.L., T.S., J.K., C.J.L., E.M.J., M.R.T., P. Paulo, M.C., S.L.N., L.S., Y.C.D., K.D.R., G.D.M., P.O., A.R., J. Llorca, S.-H.T., D.W.L., L.F.N., D. Lessel, M.G., T.K., R.K., N.U., S.S., C. Sipeky, V.M., M.P., F Canzian, S.J., T.V.d.B., S. Larkin, P.A.T., C.A.H., M.G.D., J.E.C., M.E.M., M.J.R., G.J., R.H.N.v.S., F.M., T.T., Y.A.K., J.X., K.-T.K., L.C.-A., H.P., A.M., S.N.T., S.K.M., D.J.S., S. Lindstrom, C.T., J.M., D.J.H., E.R., A.S., F Claessens, L.N.K., L.L.M., R.N.H., M.J.M., Z.C., P.K., F.W., S.J.C., B.E.H., C.A.-H., R.A.E., A.V., A.G.-C., B.F.D., G.C.-T., APCB investigators, IMPACT Study, Canary PASS investigators, BPC3, PRACTICAL, CAPS, PEGASUS, GAME-ON/ELLIPSE, and Profile Study Steering Committee." . _:6902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27151655"; "The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer."; "PMID:27151655", "https://europepmc.org/articles/PMC4912360"; rdfs:comment "The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer" . _:6912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men aged 40–69 with a family history of prostate cancer, recruited through London clinics, a UK prostate cancer study and public advertisements to evaluate genetic risk assessment and prostate biopsy for targeted prostate cancer screening."; "PMID:27151655"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 115; "men who entered the PROFILE pilot study, December 2010 to January 2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4912360/fullTextXML"; rdfs:comment "The enrollment was closed in January 2013 when 115 men had entered the study and 100 had agreed to undergo PB (Table 1)." . _:6932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROFILE"; . a owl:NamedIndividual, ; ; , ; "EGAS00001001134", "GCST001506"; "A project combining family-based and population-based investigations of a genetically isolated population in southwest Netherlands, initiated in 1995 as Genetic Research in Isolated Populations to identify genetic factors in neuropsychiatric, cardiovascular and metabolic disorders."; "GRIP", "GRIso", "Genetic Research in Isolated", "Genetic Research in Isolated Population"; , ; rdfs:label "Genetic Research in Isolated Populations"@en . _:6942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; rdfs:comment "ERF - Erasmus Rucphen Family Study The Erasmus Rucphen Family study is comprised of a family-based cohort embedded in the Genetic Research in Isolated Populations (GRIP) program in the southwest of the Netherlands." . _:6952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5984098/fullTextXML"; rdfs:comment "subjects from the Erasmus Rucphen Family (ERF), which is a genetically isolated community in the South-West of the Netherlands, and studied as part of the Genetic Research in Isolated Populations (GRIP) program" . _:6962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001134"; "Genome-wide association analysis on five isolated populations - Erasmus Rucphen Family (ERF) Study"; "https://ega-archive.org/studies/EGAS00001001134"; rdfs:comment "ERF is embedded in the Genetic Research in Isolated Population (GRIP) program" . _:6972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001506"; "Common genetic determinants of intraocular pressure and primary open-angle glaucoma."; "PMID:22570627", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3342933/fullTextXML"; rdfs:comment "For rs11656696 A we found a decreased glaucoma risk in the Amsterdam Glaucoma Study (AGS; OR = 0.71, 95%CI = 0.51–0.99) and the Erlangen and Tübingen study (OR = 0.82, 95%CI = 0.69–0.97), but not in RS-I and the Genetic Research in Isolated Populations (GRIP) program." . _:6982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining family-based and population-based investigations of a genetically isolated population in southwest Netherlands, initiated in 1995 as Genetic Research in Isolated Populations to identify genetic factors in neuropsychiatric, cardiovascular and metabolic disorders."; "https://www.epib.nl/research/geneticepi/research.html"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRIP"; . _:69a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRIso"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1057; , ; , , , , ; "EGAS00001002937", "GCST90860840"; "A cohort of people with type 2 diabetes and non-diabetic controls in Tayside, Scotland, recruiting from 1998 and linking biological samples to longitudinal health records to investigate genetic and environmental determinants of diabetes onset, progression and treatment response."; 10149; 8157; 18306; "GoDARTS", "UK Type 2 Diabetes Genetics Consortium", "UK Type 2 Diabetes Genetics Consortium Collection", "UK Type 2 Diabetes Genetics Consortium collection", "UK2 GCC", "UK2_GCC", "UKT2D GCC", "UKT2D-GCC", "UKT2DGC", "United Kingdom Type 2 Diabetes Genetics Consortium"; , ; rdfs:label "Genetics of diabetes Audit and Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1057 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:69b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1057; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5913637/fullTextXML"; rdfs:comment "This gives a current total GoDARTS cohort of 18 306 participants, 10 149 of whom have T2D ( ∼ 44.8% of the DARTS study, representing the diabetic population in Tayside) and 8157 of whom were healthy controls at baseline." . _:69c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1350796/full"; rdfs:comment "Between 1996 and 2015, GoDARTS recruited 10149 type 2 diabetes patients from the Tayside region of Scotland." . _:69d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002937"; "GoDARTS T2D-GENES Exome Sequencing Study is a subset of the ~52,000 Type 2 diabetes exome sequencing project."; "https://ega-archive.org/studies/EGAS00001002937"; rdfs:comment "This data generated from the Genetics of Diabetes and Audit Research Tayside Study (GoDARTS) cohort was part of the T2D-GENES (Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples) consortium" . _:69e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90860840"; "Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy."; "PMID:40136285", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A40136285+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "Genetics of Diabetes Audit and Research in Tayside Scotland study" . _:69f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with type 2 diabetes and non-diabetic controls in Tayside, Scotland, recruiting from 1998 and linking biological samples to longitudinal health records to investigate genetic and environmental determinants of diabetes onset, progression and treatment response."; "PMID:29025058"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10149; "participants recruited 1998-2015 (T2D patients and healthy controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5913637/fullTextXML"; rdfs:comment "This gives a current total GoDARTS cohort of 18 306 participants, 10 149 of whom have T2D ( ∼ 44.8% of the DARTS study, representing the diabetic population in Tayside) and 8157 of whom were healthy controls at baseline." . _:6a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8157; "participants recruited 1998-2015 (T2D patients and healthy controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5913637/fullTextXML"; rdfs:comment "This gives a current total GoDARTS cohort of 18 306 participants, 10 149 of whom have T2D ( ∼ 44.8% of the DARTS study, representing the diabetic population in Tayside) and 8157 of whom were healthy controls at baseline." . _:6a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18306; "participants recruited 1998-2015 (T2D patients and healthy controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5913637/fullTextXML"; rdfs:comment "This gives a current total GoDARTS cohort of 18 306 participants, 10 149 of whom have T2D ( ∼ 44.8% of the DARTS study, representing the diabetic population in Tayside) and 8157 of whom were healthy controls at baseline." . _:6a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GoDARTS"; . _:6a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK2 GCC"; . _:6a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK2_GCC"; . _:6a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKT2D GCC"; . _:6a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKT2D-GCC"; . _:6a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKT2DGC"; . a owl:NamedIndividual, ; , ; "GCST90726611"; "A cohort of siblings aged at least 90 years and younger controls aged 50–75 years, recruited during 2004–2008 in 11 European countries to investigate genetic determinants of healthy ageing and longevity."; 5319; 2548; 7918; "GEHA"; ; rdfs:label "Genetics of Healthy Aging"@en . _:6a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3725963/unicode"; rdfs:comment "nonagenarian sibling pairs have been recruited in eleven countries among 15 study centers." . _:6aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726611"; "Genetic associations with longevity in a Calabrian cohort: an exploratory genome-wide study."; "PMID:42176242" . _:6ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of siblings aged at least 90 years and younger controls aged 50–75 years, recruited during 2004–2008 in 11 European countries to investigate genetic determinants of healthy ageing and longevity."; "PMID:21871552"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5319; "participants (nonagenarian siblings and younger controls) whose samples reached the central DNA extraction centre, recruitment 2004-2008"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3622890/"; rdfs:comment "The central DNA extraction centre in Helsinki received a total of 11392 samples belonging to 7918 participants from the recruitment centres." . _:6ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2548; "participants (nonagenarian siblings and younger controls) whose samples reached the central DNA extraction centre, recruitment 2004-2008"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3622890/"; rdfs:comment "The central DNA extraction centre in Helsinki received a total of 11392 samples belonging to 7918 participants from the recruitment centres." . _:6ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7918; "participants (nonagenarian siblings and younger controls) whose samples reached the central DNA extraction centre, recruitment 2004-2008"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3622890/"; rdfs:comment "The central DNA extraction centre in Helsinki received a total of 11392 samples belonging to 7918 participants from the recruitment centres." . _:6af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEHA"; . a owl:NamedIndividual, ; , , , , ; "EGAS00001002921", "GCST90320240"; "A cohort of people from diverse population groups across Asia whose genomes are sequenced by the GenomeAsia 100K Project, to catalogue genetic variation, population structure, disease associations and founder effects and to support genetic analyses: a pilot phase sequenced people of population groups from countries across Asia, and a second phase (GenomeAsia Phase 2) added people recruited from the healthcare delivery systems of Pakistan, India and Bangladesh and from isolated South Asian population groups."; 6442; "GAsP2", "GAsPh2", "GenomeAsia", "GenomeAsia Phase 2", "GenomeAsia, Phase 2", "GenomeAsia100K"; , ; rdfs:label "GenomeAsia 100K project"@en . _:6b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/31802016"; rdfs:comment "a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia" . _:6b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10250394/fullTextXML"; rdfs:comment "Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations." . _:6b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002921"; "The GenomeAsia 100K Project enables genetic discoveries across Asia."; "PMID:31802016", "https://ega-archive.org/studies/EGAS00001002921"; rdfs:comment "Here we describe the pilot phase of the GenomeAsia 100K Project" . _:6b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90320240"; "The Genetic Drivers of Juvenile, Young, and Early-Onset Parkinson's Disease in India."; "PMID:38014556", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:38014556%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "1376 control subjects were selected from the reference population GenomeAsia, Phase 2." . _:6b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people from diverse population groups across Asia whose genomes are sequenced by the GenomeAsia 100K Project, to catalogue genetic variation, population structure, disease associations and founder effects and to support genetic analyses: a pilot phase sequenced people of population groups from countries across Asia, and a second phase (GenomeAsia Phase 2) added people recruited from the healthcare delivery systems of Pakistan, India and Bangladesh and from isolated South Asian population groups."; "PMID:31802016", "PMID:37291107"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:6b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6442; "high-coverage genomes in the GenomeAsia Phase 2 dataset after QC and relative removal (2023)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10250394/fullTextXML"; rdfs:comment "After standard quality control filters and the removal of one individual from each first-degree relative pair, we obtained a set of 6442 high-coverage genomes (average 25×) for downstream analyses (Supplementary Data 1)." . _:6b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAsP2"; . _:6b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAsPh2"; . _:6b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenomeAsia100K"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1088; ; , ; "EGAS00001005973", "GCST90451657"; "A consortium of multiple-myeloma clinical trial cohorts coordinated through centres across Germany to evaluate treatment strategies for patients at different disease stages."; 5300; "GMMG"; , ; rdfs:label "German Multiple Myeloma Study Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1088 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1088; "multiple myeloma"; "https://gmmg.info/"; rdfs:comment "Durchführung akademischer Phase II und III Studien Für Patienten in allen Krankheitsstadien des Multiplen Myeloms" . _:6ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005973"; rdfs:comment "ENCORAFENIB COMBINED WITH BINIMETINIB FOR BRAFV600E-MUTATED RELAPSED/REFRACTORY MULTIPLE MYELOMA: THE PHASE II GMMG-BIRMA TRIAL (Hipo_K08K)" . _:6bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11300596/fullTextXML"; rdfs:comment "658 German GMMG patients" . _:6bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005973"; "ENCORAFENIB COMBINED WITH BINIMETINIB FOR BRAFV600E-MUTATED RELAPSED/REFRACTORY MULTIPLE MYELOMA: THE PHASE II GMMG-BIRMA TRIAL (Hipo_K08K)"; "https://ega-archive.org/studies/EGAS00001005973"; rdfs:comment "THE PHASE II GMMG-BIRMA TRIAL (Hipo_K08K) Activating BRAF mutations are rare events in multiple myeloma but have been shown to be promising therapeutic targets in small case studies. This multicenter phase II trial assessed the efficacy and safety of the BRAF/MEK inhibitors" . _:6bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451657"; "Deciphering the genetics and mechanisms of predisposition to multiple myeloma."; "PMID:39103364", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11300596/fullTextXML"; rdfs:comment "658 German GMMG patients" . _:6be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of multiple-myeloma clinical trial cohorts coordinated through centres across Germany to evaluate treatment strategies for patients at different disease stages."; "https://gmmg.info/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5300; "patients recruited across GMMG trials (stated as more than 5300), 2026"; "https://gmmg.info/"; rdfs:comment "> 5300 IN GMMG-STUDIEN REKRUTIERTE PATIENTEN" . _:6c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GMMG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1097; , , ; "GCST90447297"; "A case-control collection of men in Accra, Ghana, recruited from population screening and Korle-Bu Teaching Hospital between 2004 and 2012 to investigate prostate-cancer risk factors."; 749; 964; "GPS", "Ghana", "Ghana Prostate", "Ghana_Prostate"; ; rdfs:label "Ghana Prostate Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1097 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1097; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32350862+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We thus examined the relationship between obesity and prostate cancer using a case-control study conducted in Accra, Ghana in 2004 to 2012. Cases and controls were drawn from a population-based sample of 1037 men screened for prostate cancer, yielding 73 cases and 964 controls. An additional 493 incident cases were recruited from the Korle-Bu Teaching Hospital." . _:6c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000838.v1.p1"; rdfs:comment "we recruited 676 prostate cancer cases at Korle Bu Teaching Hospital in Accra, Ghana" . _:6c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90447297"; "Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa."; "PMID:39358599" . _:6c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of men in Accra, Ghana, recruited from population screening and Korle-Bu Teaching Hospital between 2004 and 2012 to investigate prostate-cancer risk factors."; "PMID:32350862"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 749; "prostate cancer cases and population controls, 2004-2012 (no stated overall total)"; "PMID:30530485"; rdfs:comment "The Ghana Prostate Study is a case-control study of PCa that was conducted from 2004 to 2012 in 749 cases and 964 controls." . _:6c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 964; "prostate cancer cases and population controls, 2004-2012 (no stated overall total)"; "PMID:30530485"; rdfs:comment "The Ghana Prostate Study is a case-control study of PCa that was conducted from 2004 to 2012 in 749 cases and 964 controls." . _:6c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GPS"; . _:6c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ghana"; . _:6c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ghana_Prostate"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1107; , ; "GCST000793", "PMID:30267046"; "A cohort of people with glaucoma and their relatives in Tasmania, Australia, recruited through affected probands identified in 1994–1996 and assessed with pedigrees and eye examinations to investigate familial primary open-angle glaucoma."; 2062; "GIST"; ; rdfs:label "Glaucoma Inheritance Study in Tasmania"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1107 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1107; "primary open angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18173405+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1994 and 1996 an audit of Tasmanian patients diagnosed with glaucoma was performed. Identified probands along with their family members were invited to participate." . _:6cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://genepi.qimr.edu.au/contents/publications/staff/Burdon_NatGen_OSI_574-578.pdf"; rdfs:comment "The GIST aimed to recruit all cases of glaucoma in Tasmania (an island state of Australia)" . _:6cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000793"; "Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma."; "PMID:20835238", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3222888/"; rdfs:comment "The Australian sample consisted of three studies—a study from Tasmania (GIST), a study from South Australia (ANZRAG) and the Blue Mountains Eye Study (BMES)—that individually have estimated OR = 1.17 (P = 0.29), OR = 1.25 (P = 0.038) and OR = 1.26 (P = 0.13), respectively." . _:6cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30267046"; "Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies."; "PMID:30267046", "https://europepmc.org/article/MED/30267046"; rdfs:comment "the Glaucoma Inheritance Study in Tasmania, ascertained glaucoma cases" . _:6ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with glaucoma and their relatives in Tasmania, Australia, recruited through affected probands identified in 1994–1996 and assessed with pedigrees and eye examinations to investigate familial primary open-angle glaucoma."; "PMID:18173405"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2062; "probands and family members examined"; "PMID:18173405"; rdfs:comment "Of 2062 participants examined, 1700 were classified as POAG." . _:6d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIST"; . a owl:NamedIndividual, ; , ; , ; "EGAS00001000630", "GCST90059895"; "A project combining the MANOLIS cohort from mountainous villages in Crete and the Pomak cohort from mountainous northern Greece to investigate genetic determinants of complex traits in founder populations."; 2893; "HELIC"; , ; rdfs:label "Greece Hellenic Isolated Cohorts"@en . _:6d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8640022/unicode"; rdfs:comment "The two cohorts included in this analysis, MANOLIS and Pomak, are part of the Hellenic Isolated Cohorts" . _:6d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640022/fullTextXML"; rdfs:comment "The two cohorts included in this analysis, MANOLIS and Pomak, are part of the Hellenic Isolated Cohorts (HELIC; https://www.helmholtz-muenchen.de/itg/projects-and-cohorts/helic/index.html)." . _:6d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640022/fullTextXML"; rdfs:comment "biological samples were collected from the mountainous Mylopomatos villages in Crete, Greece" . _:6d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000630"; "A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates."; "PMID:24343240", "https://ega-archive.org/studies/EGAS00001000630"; rdfs:comment "The HELIC (Hellenic Isolated Cohorts) MANOLIS (Minoan Isolates) collection focuses on Anogia and surrounding Mylopotamos villages." . _:6d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90059895"; "Mapping the serum proteome to neurological diseases using whole genome sequencing."; "PMID:34857772", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640022/fullTextXML"; rdfs:comment "MANOLIS and Pomak, are part of the Hellenic Isolated Cohorts" . _:6d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining the MANOLIS cohort from mountainous villages in Crete and the Pomak cohort from mountainous northern Greece to investigate genetic determinants of complex traits in founder populations."; "PMID:34857772"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2893; "analysed subset: whole-genome-sequenced samples from MANOLIS and Pomak combined (2021)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640022/fullTextXML"; rdfs:comment "We use whole-genome sequencing (WGS) to capture the entire allele frequency spectrum in 2,893 samples from two Greek population-based cohorts, MANOLIS and Pomak." . _:6d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIC"; . a owl:NamedIndividual, ; , ; , ; "GCST006900"; "A cohort of adults aged over 50 years and their households in the United States, surveyed every two years from 1992 to investigate changes in health, cognition, economic circumstances, work, retirement and family relationships during ageing."; 37000; "HRS", "Health Retirement Study"; ; rdfs:label "Health and Retirement Study"@en . _:6d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/24671021"; rdfs:comment "The Health and Retirement Study (HRS) is a nationally representative longitudinal survey of more than 37 000 individuals over age 50 in 23 000 households in the USA" . _:6da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST006900"; "Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry."; "PMID:30124842", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=6488973"; rdfs:comment "an independent sample from the Health and Retirement Study (HRS)" . _:6db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged over 50 years and their households in the United States, surveyed every two years from 1992 to investigate changes in health, cognition, economic circumstances, work, retirement and family relationships during ageing."; "PMID:24671021"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 37000; "individuals over age 50 surveyed since 1992 (stated as more than 37 000), in 23 000 households (2014)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3997380/"; rdfs:comment "The Health and Retirement Study (HRS) is a nationally representative longitudinal survey of more than 37 000 individuals over age 50 in 23 000 households in the USA." . _:6dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HRS"; . a owl:NamedIndividual, ; ; , ; "EGAS00001000162", "GCST90093140"; "A cohort of adults in mainland Finland sampled for health interviews and examinations in 2000–2001, primarily at age 30 or older, to characterise public-health problems, their determinants and treatment, and functional and work capacity."; 8028; "Health 2000 Study", "Health 2000 Survey", "Health 2000 study", "Health 2000 survey", "Health2000"; , ; rdfs:label "Health2000 Study"@en . _:6de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/34847907"; rdfs:comment "This study was based on the data of the national Health 2000 Survey (BRIF8901) in Finland" . _:6df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000162"; "Genetic_background_for_the_major_psychiatric_disorders_in_the_general_Finnish_population"; "https://ega-archive.org/studies/EGAS00001000162"; rdfs:comment "Low coverage (4-6x) sequencing on samples from population cohorts (Finrisk, Health2000) will be done at Wellcome Trust Sanger Institute (WTSI) using Illumina HiSeq sequencing technology." . _:6e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093140"; "Genome-wide association study of periodontal pocketing in Finnish adults."; "PMID:34847907", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A34847907+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "data of the national Health 2000 Survey (BRIF8901) in Finland" . _:6e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults in mainland Finland sampled for health interviews and examinations in 2000–2001, primarily at age 30 or older, to characterise public-health problems, their determinants and treatment, and functional and work capacity."; "https://www.sisuproject.fi/cohorts/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8028; "nationally representative sample of persons aged 30 or over drawn and invited, 2000-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4653280/fullTextXML"; rdfs:comment "In Health 2000 Survey, conducted in Finland in 2000–2001, a nationally representative sample of 8,028 persons aged 30 years or over was drawn from the population register and invited to take part in a two-phased study." . _:6e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health2000"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1134; , ; ; "EGAS00001001427", "GCST90061371"; "A randomised trial cohort of adults aged 40–80 at increased risk of coronary death, recruited in 1994–1997 to evaluate simvastatin and antioxidant vitamins, each against placebo, for prevention of mortality and major vascular events."; 20536; "HPS"; , ; rdfs:label "Heart Protection Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1134 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1134; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10329064+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Men and women aged 40 to 80 years were eligible provided they were considered to be at elevated risk of coronary heart disease death because of past history of myocardial infarction or other coronary heart disease, occlusive disease of non-coronary arteries, diabetes mellitus or treated hypertension" . _:6e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/12114036"; rdfs:comment "20,536 UK adults (aged 40-80 years) with coronary disease, other occlusive arterial disease, or diabetes were randomly allocated" . _:6e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001427"; "Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation."; "PMID:26390057", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4719169/unicode"; rdfs:comment "Participant recruitment, characterization and data generation. [...] Heart Protection Study:" . _:6e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90061371"; "Genome-Wide Association Study of Peripheral Artery Disease."; "PMID:34601942", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8542067/fullTextXML"; rdfs:comment "Heart Protection Study" . _:6e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of adults aged 40–80 at increased risk of coronary death, recruited in 1994–1997 to evaluate simvastatin and antioxidant vitamins, each against placebo, for prevention of mortality and major vascular events."; "PMID:10329064"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20536; "UK adults aged 40-80 randomised, 1994-1997"; "PMID:12114036"; rdfs:comment "20,536 UK adults (aged 40-80 years) with coronary disease, other occlusive arterial disease, or diabetes were randomly allocated to receive 40 mg simvastatin daily (average compliance: 85%) or matching placebo (average non-study statin use: 17%)." . _:6ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1142; , ; "EGAS00001002776", "GCST90061380"; "A cohort of people with type 2 diabetes receiving primary care in West-Friesland, the Netherlands, enrolling from 1998 and assessed annually to investigate the course of diabetes, its complications and treatment."; "The acronym DCS also denotes Doetinchem Cohort Study (COHO:0000906); this term is Hoorn Diabetes Care System."@en; 12673; "DCS", "Diabetes Care System"; , ; rdfs:label "Hoorn Diabetes Care System"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1142 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1142; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28588112+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The DCS consists of persons with T2D in primary care from the West-Friesland region of the Netherlands. Enrolment in the cohort started in 1998 and this prospective dynamic cohort currently holds 12 673 persons with T2D." . _:6ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pubmed.ncbi.nlm.nih.gov/28588112/"; rdfs:comment "The DCS consists of persons with T2D in primary care from the West-Friesland region of the Netherlands." . _:6ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002776"; "The Hoorn Diabetes Care System (DCS) cohort. A prospective cohort of persons with type 2 diabetes treated in primary care in the Netherlands."; "PMID:28588112", "https://ega-archive.org/studies/EGAS00001002776"; rdfs:comment "Hoorn Diabetes Care System (DCS) Cohort" . _:6ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90061380"; "Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas."; "PMID:34607834", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8669535/fullTextXML"; rdfs:comment "Genotyping and quality control procedures for the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS), Hoorn Diabetes Care System (DCS), and Pharmacogenomics of Metformin (PMET) cohorts have previously been described (13,15,16)." . _:6ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with type 2 diabetes receiving primary care in West-Friesland, the Netherlands, enrolling from 1998 and assessed annually to investigate the course of diabetes, its complications and treatment."; "PMID:28588112"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12673; "people with type 2 diabetes enrolled with at least one annual examination, 1998-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5729999/fullTextXML"; rdfs:comment "In 2015, 12 673 individuals with T2D and at least one annual examination at the DCS centre had been enrolled in the study, of which 2497 had died during follow-up." . _:6f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCS"; . a owl:NamedIndividual, ; , ; "EGAS00001006772", "GCST002149", "PMID:32117730"; "A registry of people discharged from inpatient care in Sweden, initiated in 1964 and nationwide since 1987, recording somatic and psychiatric diagnoses for longitudinal population research."; "HDR"; , ; rdfs:label "Hospital Discharge Register Sweden"@en . _:6f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.jthjournal.org/article/S1538-7836%2822%2903883-1/fulltext"; rdfs:comment "The Swedish Hospital Discharge Register, which contains information on all hospital diagnoses for all people in Sweden." . _:6f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006772"; "S3 Swedish schizophrenia case-control study"; "https://www.ebi.ac.uk/ebisearch/ws/rest/ega/entry/EGAS00001006772?fields=name,description,EGA,PUBMED,submitter_keywords&format=json"; rdfs:comment "Population-based sampling was used to recruit cases with schizophrenia, based on data from the Swedish national patient register, as well as controls who had never been hospitalized for schizophrenia or bipolar disorder." . _:6f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002149"; "Genome-wide association analysis identifies 13 new risk loci for schizophrenia."; "PMID:23974872", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3827979/fullTextXML"; rdfs:comment "Cases with schizophrenia were identified via the Swedish Hospital Discharge Register 76,77 which captures all public and private inpatient hospitalizations." . _:6f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32117730"; "The Association Between Cancer and Dementia: A National Cohort Study in Sweden."; "PMID:32117730", "https://europepmc.org/articles/PMC7010720"; rdfs:comment "By using the Swedish Cancer Register and the Swedish Hospital Discharge Register" . _:6f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of people discharged from inpatient care in Sweden, initiated in 1964 and nationwide since 1987, recording somatic and psychiatric diagnoses for longitudinal population research."; "PMID:21658213"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1156; , ; , ; "GCST000387"; "A project combining clinical data and biological materials from psychiatric genetic studies in a shared National Institute of Mental Health repository, organised into disorder-related collections to support research on mental illness."; "The acronym HGI also denotes the COVID-19 Host Genetics Initiative (COHO:0000238); this term is the NIMH Human Genetics Initiative repository."@en; 120000; "HGI"; ; rdfs:label "Human Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1156 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:6f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1156; "mental disorders"; "https://www.nimh.nih.gov/about/advisory-boards-and-groups/namhc/2016/may/namhc-minutes-of-the-245th-meeting"; rdfs:comment "The NIMH-RGR is a principal biorepository resource with more than 200,000 well-characterized, high-quality patient and control samples from a wide-range of mental disorders across diverse ethnicities." . _:6f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nimh.nih.gov/about/advisory-boards-and-groups/namhc/reports/genetics-and-mental-disorders-report-of-the-national-institute-of-mental-healths-genetics-workgroup"; rdfs:comment "Readers will note that Alzheimer’s disease is not included on this list, even though the NIMH Human Genetics Initiative included this severe disorder." . _:6fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/supplementaryFiles"; rdfs:comment "STAR*D genotype and phenotype data are available through the National Institute of Mental Health Human Genetic Initiative (https://www.nimhgenetics.org/)." . _:6fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7287780/"; rdfs:comment "in five waves at 11 sites across the United States" . _:6fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000387"; "Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry."; "PMID:19416921", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=2678639"; rdfs:comment "National Institute of Mental Health Human Genetics Initiative Repository" . _:6fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining clinical data and biological materials from psychiatric genetic studies in a shared National Institute of Mental Health repository, organised into disorder-related collections to support research on mental illness."; "https://www.nimh.nih.gov/about/advisory-boards-and-groups/namhc/2016/may/namhc-minutes-of-the-245th-meeting"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:6fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 120000; "participants with clinical data and biomaterials available in the NIMH repository (approximately), 2016"; "https://www.nimh.nih.gov/about/advisory-boards-and-groups/namhc/2016/may/namhc-minutes-of-the-245th-meeting"; rdfs:comment "Currently, clinical data and biomaterials from approximately 120,000 participants are available, with more than 200,000 to be available soon." . _:6ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGI"; . a owl:NamedIndividual, ; , ; "GCST002770", "PMID:27030319"; "A cohort of men and women aged 55–85 residing in Newcastle, New South Wales, Australia, followed longitudinally with questionnaires, clinical assessments, biological samples and linked health records to investigate health and ageing."; "The acronym HCS also denotes Hertfordshire Cohort Study (COHO:0001855); this term is Hunter Community Study."@en; 3253; "HCS"; ; rdfs:label "Hunter Community Study"@en . _:7002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4814826/fullTextXML"; rdfs:comment "Over 7,500 people were randomly selected from the compulsory electoral roll of Newcastle, Australia, and invited to participate in the Hunter Community Study (HCS)" . _:7012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002770"; "Genetics of hand grip strength in mid to late life."; "PMID:25637336", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25637336%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "GS was measured using handheld dynamometry in community-dwelling men and women aged 55-85 from the Hunter Community Study (HCS, N = 2088) and the Sydney Memory and Ageing Study (Sydney MAS, N = 541)." . _:7022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27030319"; "Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults."; "PMID:27030319", "https://europepmc.org/articles/PMC4814826"; rdfs:comment "The results were replicated in an independent cohort, the Hunter Community Study" . _:7032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men and women aged 55–85 residing in Newcastle, New South Wales, Australia, followed longitudinally with questionnaires, clinical assessments, biological samples and linked health records to investigate health and ageing."; "https://researchdata.edu.au/health-ageing-hunter-nsw-australia/11563"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3253; "men and women aged 55-85 recruited in the first phase"; "https://researchdata.edu.au/health-ageing-hunter-nsw-australia/11563"; rdfs:comment "The first phase of this study sampled 3253 people representing a response rate of 44.5%." . _:7052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1171; , ; "GCST004144", "PMID:39886913"; "A registry of people diagnosed with cancer in Iceland, established in 1954 to record nationwide cancer diagnoses and support cancer research."; "ICR in study text may mean immune checkpoint receptors, not this registry."@en, "The acronym ICR also denotes UK lung cancer GWAS from the Institute for Cancer Research (COHO:0001018); this term is Icelandic Cancer Registry."@en; "ICR"; ; rdfs:label "Icelandic Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1171 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1171; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22974093+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data from the ICR for the period 1955-2009 (41 994 cancer diagnoses) were used, applying established quantitative and semi-quantitative methods." . _:7072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/22974093"; rdfs:comment "The nationwide Icelandic Cancer Registry (ICR) was established in 1954" . _:7082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004144"; "A genome-wide association study yields five novel thyroid cancer risk loci."; "PMID:28195142", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5316879/fullTextXML"; rdfs:comment "Icelanders diagnosed with thyroid cancer were identified based on a nationwide list from the Icelandic Cancer Registry (ICR) (http://www.krabbameinsskra.is/indexen.jsp?icd=C73) that contains all Icelandic thyroid cancer patients diagnosed from 1 January 1955, to 31 December 2015." . _:7092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39886913"; "Lynch syndrome screening in colorectal and endometrial cancers in Iceland."; "PMID:39886913", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC11811529/unicode"; rdfs:comment "All patients diagnosed with CRC and EC according to the Icelandic Cancer Registry in 2020–2022 were included." . _:70a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of people diagnosed with cancer in Iceland, established in 1954 to record nationwide cancer diagnoses and support cancer research."; "PMID:22974093"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:70b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1178; , , , , , , , , , , , ; "GCST006085", "PMID:24484606"; "A cohort of men aged 40–69 years from families with BRCA1 or BRCA2 mutations, including mutation carriers and age-matched non-carriers, undergoing annual prostate-specific antigen testing in an international investigation of targeted prostate-cancer screening."; "The acronym IMPACT also denotes Immune and Metabolic Markers during Pregnancy and Child Development Study (COHO:0000443), written IMPaCT; this term is Identification of Men with a genetic predisposition to ProstAte Cancer."@en; 3063; "IMPACT"; ; rdfs:label "Identification of Men with a genetic predisposition to ProstAte Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1178 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:70c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1178; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20840664+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Men aged 40-69 years from families with BRCA1 or BRCA2 mutations were offered annual prostate specific antigen (PSA) testing, and those with PSA > 3 ng/mL, were offered a prostate biopsy. Controls were men age-matched (± 5 years) who were negative for the familial mutation." . _:70d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8576477/fullTextXML"; rdfs:comment "eight countries (Australia, Israel, Italy, Norway, Portugal, Spain, the UK, and the USA" . _:70e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST006085"; "Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci."; "PMID:29892016", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6568012/"; rdfs:comment "Provision of DNA samples and/or phenotypic data: V.L.S., S.M.G., B.D.C., C.M.T., P.J.G., I.M.T., J.B., S.C., L. Moya, J.C., L.H., W.T., G.P.R., H.G., M. Aly, T.N., P. Pharoah, N.P., J.S., T.L.J.T., C. Slavov, A.A., D.A., S.W., A.W., N.H., C.M.L.W., A.M.D., N.B., L.A.M., E.G., G.L.A., O.C.,G.C.T., S.K., L.E.B.F., K.D.S., T.F.O., M.B., L. Maehle, E.M.G., D.E.N., J.L.D., F.C.H., R.M.M., R.C.T., T.J.K., R.J.H., N.E.F., A.F., S.A.I., M.C. Stern, B.S.R., S.L.K., H.O., Y.-J.L., H.-W.Z., N.F., X.M., X.G., G.W., Z.S., G.G.G., M.C. Southey, R.J.M., L.M.F., A.S.K., B.M.K., J. Lubinski, G.C.-V., K.L.P., M.S., J.Y.P., T.A.S., H.-Y.L., J.L.S., C.C., D.W., J. Lim, E.A.O., M.S.G., B.G.N., S.F.N., M.W., R.B., M.A.R., P.I., H.B., K.C., B.H.,C.M., M.L., T.S., J.K., C.J.L., E.M.J., M.R.T., P. Paulo, M.C., S.L.N., L.S., Y.C.D., K.D.R., G.D.M., P.O., A.R., J. Llorca, S.-H.T., D.W.L., L.F.N., D. Lessel, M.G., T.K., R.K., N.U., S.S., C. Sipeky, V.M., M.P., F Canzian, S.J., T.V.d.B., S. Larkin, P.A.T., C.A.H., M.G.D., J.E.C., M.E.M., M.J.R., G.J., R.H.N.v.S., F.M., T.T., Y.A.K., J.X., K.-T.K., L.C.-A., H.P., A.M., S.N.T., S.K.M., D.J.S., S. Lindstrom, C.T., J.M., D.J.H., E.R., A.S., F Claessens, L.N.K., L.L.M., R.N.H., M.J.M., Z.C., P.K., F.W., S.J.C., B.E.H., C.A.-H., R.A.E., A.V., A.G.-C., B.F.D., G.C.-T., APCB investigators, IMPACT Study, Canary PASS investigators, BPC3, PRACTICAL, CAPS, PEGASUS, GAME-ON/ELLIPSE, and Profile Study Steering Committee." . _:70f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24484606"; "Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study."; "PMID:24484606", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4105321/unicode"; rdfs:comment "IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls)" . _:7102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men aged 40–69 years from families with BRCA1 or BRCA2 mutations, including mutation carriers and age-matched non-carriers, undergoing annual prostate-specific antigen testing in an international investigation of targeted prostate-cancer screening."; "PMID:20840664"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3063; "men aged 40-69 recruited 2005-2015 (BRCA1/2 carriers and non-carrier controls)"; "PMID:41714267"; rdfs:comment "Between 2005 and 2015, 3063 participants aged 40-69 yr (median 54 yr) were recruited from 65 centres in 20 countries in two cohorts: (1) BRCA1/BRCA2 PGV carriers (915 BRCA1, 901 BRCA2); and (2) age-matched noncarriers for a familial PGV (727 BRCA1 and 520 BRCA2 noncarriers)." . _:7122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPACT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1186; "GCST90137949"; "A cohort of genotyped patients with Crohn's disease collected through the International Inflammatory Bowel Disease Genetics Consortium at sites in Europe, North America and Australia to investigate genetic susceptibility and gene–environment interactions."; 10856; 10856; "IIBDGC"; ; rdfs:label "IIBDGC genotyped CD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1186 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1186; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28506689+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used 55 Immunochip-wide datasets that included 19,735 IBD cases (10,856 CD cases and 8879 UC cases) of known smoking status." . _:7142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90137949"; "Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice."; "PMID:28506689", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5526723/unicode"; rdfs:comment "All DNA samples used in the present study were collected through the IIBDGC" . _:7152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of genotyped patients with Crohn's disease collected through the International Inflammatory Bowel Disease Genetics Consortium at sites in Europe, North America and Australia to investigate genetic susceptibility and gene–environment interactions."; "PMID:28506689"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10856; "analysed subset: genotyped Crohn's disease cases of known smoking status (2017)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5526723/"; rdfs:comment "We used 55 immunochip-wide data sets that included 19,735 IBD cases (10,856 CD cases and 8879 UC cases) of known smoking status." . _:7172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10856; "analysed subset: genotyped Crohn's disease cases of known smoking status (2017)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5526723/"; rdfs:comment "We used 55 immunochip-wide data sets that included 19,735 IBD cases (10,856 CD cases and 8879 UC cases) of known smoking status." . _:7182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IIBDGC"; . a owl:NamedIndividual, ; , ; "GCST000598", "PGS000770", "PMID:23074152"; "A cohort of premenopausal women of European-American ancestry, with an extended European-American and African-American sample, providing bone-density and genetic measurements for investigation of inherited variation in skeletal traits."; 1692; "IFS", "IGBFS", "ISS", "Indiana Fragility Study", "Indiana Genetics of Bone Fragility Study", "Indiana Sisters Osteoporosis Study", "Indiana cohort", "Indiana_cohort", "Study of Indiana Women"; , ; rdfs:label "Indiana Sisters Study"@en . _:7192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3153352/"; rdfs:comment "Families with two or more healthy premenopausal sisters were recruited from the state of Indiana to identify genes contributing to bone mass." . _:71a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000598"; "Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women."; "PMID:20164292", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2853986/"; rdfs:comment "To identify genes contributing to BMD, a study of healthy siblings from Indiana was initiated (4,5). Recruitment focused on families with two or more healthy sisters." . _:71b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:71c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23074152"; "Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women."; "PMID:23074152", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3691010/unicode"; rdfs:comment "Indiana Sisters Study" . _:71d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of premenopausal women of European-American ancestry, with an extended European-American and African-American sample, providing bone-density and genetic measurements for investigation of inherited variation in skeletal traits."; "PMID:23074152"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:71e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1692; "healthy premenopausal white (European-American) sisters studied; excludes the extended and African-American samples (2008)"; "PMID:18755304"; rdfs:comment "Healthy premenopausal white sisters (age 33.1+/-7.2, n=1692) and healthy white brothers (age 33.6+/-10.9, n=715) were studied." . _:71f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFS"; . _:7202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGBFS"; . _:7212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISS"; . _:7222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Indiana_cohort"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1203, _:genid-371333f489424440b12a13b9d98ced822608-genid1205, _:genid-371333f489424440b12a13b9d98ced822608-genid1207, _:genid-371333f489424440b12a13b9d98ced822608-genid1209, _:genid-371333f489424440b12a13b9d98ced822608-genid1211, _:genid-371333f489424440b12a13b9d98ced822608-genid1213, _:genid-371333f489424440b12a13b9d98ced822608-genid1215; , ; ; "EGAS00001002169", "GCST007713"; "A project combining cohorts of pregnant women and their children from seven Spanish areas to investigate environmental exposures and child health through coordinated assessments, questionnaires and biological sampling."; 3768; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; "INMA", "INfancia y Medio Ambiente [Environment and Childhood] Project"; , , ; rdfs:label "INfancia y Medio Ambiente Project"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid1203 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1205 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1207 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1209 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1211 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1213 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1215 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1203; "organochlorine compounds"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:7242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1205; "environmental pollutants in the air, water and diet during the pregnancy and beginning of life"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:7252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1207; "air pollution"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:7262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1209; "water pollution"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:7272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1211; "arsenic"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:7282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1213; "metals"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:7292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1215; "hormonal disruptors"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/INMA"; rdfs:comment "INMA – INfancia y Medio Ambiente [Environment and Childhood] Project is a research network of several Spanish groups that created a project with the aim to study the paper of the more relevant environmental pollutants in the air, water and diet during the pregnancy and beginning of life, and their effects in the growth and development." . _:72a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6408457/fullTextXML"; rdfs:comment "Genotypic data for unaffected controls were obtained from 1061 individuals from the INfancia y Medio Ambiente (INMA) project (Valencia, Sabadell and Menorca, Spain" . _:72b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002169"; "The emerging landscape of dynamic DNA methylation in early childhood."; "PMID:28056824", "https://ega-archive.org/studies/EGAS00001002169"; rdfs:comment "MeDALL epigenetics study includes illumina 450k methylation measurements from 4 cohorts: Infancia y Medio Ambiente (INMA), Etudes des Déterminants pré et postnatals précoces du développement et de la santé de l’ENfant (EDEN), Children’s Allergy Environment Stockholm Epidemiology study(BAMSE), and Prevention and Incidence of Asthma and Mite Allergy (PIAMA)" . _:72c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST007713"; "Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02."; "PMID:30850646", "https://europepmc.org/articles/PMC6408457"; rdfs:comment "1061 individuals from the INfancia y Medio Ambiente (INMA) project" . _:72d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining cohorts of pregnant women and their children from seven Spanish areas to investigate environmental exposures and child health through coordinated assessments, questionnaires and biological sampling."; "https://www.proyectoinma.org/en/inma-project/study-design/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:72e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3768; "total N of the base study (mother-child pairs recruited in the seven cohorts, 1997-2008)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837319/fullTextXML"; rdfs:comment "INMA 21471022 http://www.proyectoinma.org/ Population-based birth cohort Spain 1997–2008 3768 >90% European" . _:72f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1223; , ; ; "EGAS00000000092", "GCST004146"; "A cohort of patients with chronic lymphocytic leukaemia whose tumour genomes are analysed within the International Cancer Genome Consortium to identify alterations involved in disease development and progression and potential diagnostic and therapeutic targets."; 452; "Chronic Lymphocytic Leukemia Genome Project", "ICGC CLL Genome Project", "ICGC-CLL"; , ; rdfs:label "International Cancer Genome Consortium-Chronic Lymphocytic Leukemia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1223 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1223; "chronic lymphocytic leukemia"; "https://ega-archive.org/studies/EGAS00000000092"; rdfs:comment "The Chronic Lymphocytic Leukemia (CLL) Genome Project aims to identify genetic alterations involved in the development and progression of the CLL, which are still unknown, with the objective of generating a comprehensive catalogue of genetic alterations in 500 independent tumours." . _:7312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11641350/fullTextXML"; rdfs:comment "Aligned WGS reads from 52 Spanish CLL patients [ 38 , 39 ] were obtained from the International Cancer Genome Consortium" . _:7322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000092"; "Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia."; "PMID:21642962", "https://ega-archive.org/studies/EGAS00000000092"; rdfs:comment "The CLL Genome Project, as a contributing member of the International Cancer Genome Consortium (ICGC)" . _:7332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004146"; "Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia."; "PMID:28165464", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5303820/fullTextXML"; rdfs:comment "In silico replication was performed in 444 cases and 609 controls from International Cancer Genome Consortium (ICGC), and 226 cases and 228 controls from the WHI study38,39." . _:7342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with chronic lymphocytic leukaemia whose tumour genomes are analysed within the International Cancer Genome Consortium to identify alterations involved in disease development and progression and potential diagnostic and therapeutic targets."; "https://metadata.ega-archive.org/studies/EGAS00000000092"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 452; "CLL cases in the project's comprehensive genomic evaluation (excludes 54 patients with monoclonal B-lymphocytosis), 2015"; "PMID:26200345"; rdfs:comment "Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder." . _:7362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGC-CLL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1231; , , , , , , , , , , , , ; "EGAS00001000048", "GCST003720"; "A consortium of headache clinic and population-based cohorts that combines genome-wide association data from migraine cases and controls of European ancestry to identify genetic susceptibility loci for migraine."; 59674; 316078; 375000; "IHGC"; , ; rdfs:label "International Headache Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1231 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1231; "migraine"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "We performed a meta-analysis of 22 genome-wide association (GWA) studies, consisting of 59,674 cases and 316,078 controls collected from six tertiary headache clinics and 27 population-based cohorts through our worldwide collaboration in the International Headache Genetics Consortium (IHGC)." . _:7382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Avon Longitudinal Study of Parents and Children" . _:7392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Estonian Genome Center, University of Tartu" . _:73a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Netherlands Twin Register" . _:73b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Swedish Twin Registry" . _:73c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Twins UK" . _:73d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Nord-Trøndelag Health Study" . _:73e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Young Finns Young Finns 378 2,065" . _:73f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "deCODE Genetics Inc." . _:7402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "NetherlandsStudy of Depression and Anxiety" . _:7412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "23andMe Inc." . _:7422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "Women’s Genome Health Study" . _:7432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "The Tromsø Study" . _:7442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5331903/unicode"; rdfs:comment "ATM Australian Twin Migraine 1,683 2,383" . _:7452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000048"; "Paroxysmal neurological disorders"; "https://ega-archive.org/studies/EGAS00001000048"; rdfs:comment "We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS." . _:7462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003720"; "Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine."; "PMID:27322543", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=5331903"; rdfs:comment "International Headache Genetics Consortium (IHGC)" . _:7472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of headache clinic and population-based cohorts that combines genome-wide association data from migraine cases and controls of European ancestry to identify genetic susceptibility loci for migraine."; "PMID:27322543"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 59674; "migraine cases and controls in the 2016 IHGC meta-analysis of 22 GWA studies (as rounded in the title)"; "PMID:27322543"; rdfs:comment "Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine." . _:7492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 316078; "migraine cases and controls in the 2016 IHGC meta-analysis of 22 GWA studies (as rounded in the title)"; "PMID:27322543"; rdfs:comment "Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine." . _:74a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 375000; "migraine cases and controls in the 2016 IHGC meta-analysis of 22 GWA studies (as rounded in the title)"; "PMID:27322543"; rdfs:comment "Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine." . _:74b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IHGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1253; , , , , , ; "EGAS00001003216", "GCST001505"; "A consortium of research groups that combines multiple sclerosis case collections from people of European descent across 15 countries with control datasets to investigate genetic susceptibility to multiple sclerosis."; 9772; 17376; "IMSGC"; , ; rdfs:label "International Multiple Sclerosis Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1253 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:74c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1253; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182531/fullTextXML"; rdfs:comment "Cases were recruited through the International Multiple Sclerosis Genetics Consortium (IMSGC) and compared with the WTCCC2 common control set12,13 supplemented by data from the control arms of existing GWAS." . _:74d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182531/supplementaryFiles"; rdfs:comment "Gabriel Advanced Survey" . _:74e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182531/supplementaryFiles"; rdfs:comment "PROCARDIS" . _:74f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:7502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343041/fullTextXML"; rdfs:comment "We employed the NINDS dbGaP dataset that includes genomewide genotypes (Affymetrix GeneChip Human Mapping 500K Array Set) for 931 individuals with MS from the IMSGC [8], all drawn from the UK and the USA." . _:7512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3681825/fullTextXML"; rdfs:comment "we performed a GWAS with OCB status using the PROGEMUS/PROGRESSO subset of the IMSGC-WTCCC GWAS [9] as a discovery sample" . _:7522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3283173/"; rdfs:comment "REFGENSEP is a member of the International Multiple Sclerosis Genetics Consortium (IMSGC)." . _:7532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003216"; "Multiple Sclerosis Replication Chip data (MS Chip)"; "https://ega-archive.org/studies/EGAS00001003216"; rdfs:comment "UK Multiple Sclerosis (MS) cases that were recruited through the University of Cambridge and included in the IMSGC Replicationchip experiment" . _:7542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001505"; "Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1."; "PMID:22570697", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343041/fullTextXML"; rdfs:comment "We also analyzed a dataset (named hereafter IMSGC/WT) based on 931 MS cases from the International Multiple Sclerosis Genetic Consortium (IMSGC) [8] and 2938 controls from the Wellcome Trust Case Control Consortium (WTCCC), who had been genotyped using Affymetrix 500K array [9]." . _:7552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of research groups that combines multiple sclerosis case collections from people of European descent across 15 countries with control datasets to investigate genetic susceptibility to multiple sclerosis."; "PMID:21833088"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9772; "cases and controls passing QC in the 2011 IMSGC/WTCCC2 GWAS discovery analysis"; "PMID:21833088"; rdfs:comment "We introduced a number of novel quality control (QC) methods for processing these datasets (see Supplementary Information), which ultimately provided reliable information from 9772 cases and 17376 controls (see Figure 1A)." . _:7572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17376; "cases and controls passing QC in the 2011 IMSGC/WTCCC2 GWAS discovery analysis"; "PMID:21833088"; rdfs:comment "We introduced a number of novel quality control (QC) methods for processing these datasets (see Supplementary Information), which ultimately provided reliable information from 9772 cases and 17376 controls (see Figure 1A)." . _:7582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMSGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1267; ; "EGAS00001001077", "GCST000434"; "A consortium of schizophrenia case-control collections that combines genome-wide genetic data, including European-ancestry samples, to investigate inherited susceptibility to schizophrenia and shared genetic risk with bipolar disorder."; 3322; 3587; "ISC"; , ; rdfs:label "International Schizophrenia Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1267 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1267; "schizophrenia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3912837/unicode"; rdfs:comment "We genotyped the International Schizophrenia Consortium (ISC) case-control sample for up to ~1 million single nucleotide polymorphisms (SNPs) augmented by imputed common HapMap SNPs." . _:75a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3729260/"; rdfs:comment "The PIC has been an integral part of the International Schizophrenia Consortium (ISC)." . _:75b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001077"; "Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation."; "PMID:30218040", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6138682/fullTextXML"; rdfs:comment "Samples were contributed by LifeLines, the Leiden Longevity Study, the Netherlands Twin Registry (NTR), the Rotterdam Study, the Genetic Research in Isolated Populations program, the Cohort on Diabetes and Atherosclerosis Maastricht (CODAM) study, the Prospective ALS study Netherlands (PAN), Avon Longitudinal Study of Parents and Children (ALSPAC), International Schizophrenia Consortium, Cooperative Health Research in the Ausburg Region (KORA), TwinsUK." . _:75c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000434"; "Common polygenic variation contributes to risk of schizophrenia and bipolar disorder."; "PMID:19571811", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3912837/unicode"; rdfs:comment "We genotyped the International Schizophrenia Consortium (ISC) case-control sample" . _:75d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of schizophrenia case-control collections that combines genome-wide genetic data, including European-ancestry samples, to investigate inherited susceptibility to schizophrenia and shared genetic risk with bipolar disorder."; "PMID:19571811"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:75e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3322; "European cases and controls in the 2009 ISC GWAS after QC"; "PMID:19571811"; rdfs:comment "We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls." . _:75f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3587; "European cases and controls in the 2009 ISC GWAS after QC"; "PMID:19571811"; rdfs:comment "We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls." . _:7602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISC"; . a owl:NamedIndividual, ; , , , ; , ; "EGAS00001000458", "GCST90277987", "PMID:31784700"; "A network of Italian studies of genetically isolated populations, among them Val Borbera, Friuli Venezia Giulia, Carlantino and Cilento, combining genomic and phenotypic data to investigate genetic variation and complex traits."; 3292; "INGI"; , ; rdfs:label "Italian Network on Genetic Isolates Studies"@en . _:7612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3315455/fullTextXML"; rdfs:comment "The INGI-Cilento study was supported by grants from the EU (Vasoplus-037254), the Italian Ministry of Universities (FIRB -RBIN064YAT), the Assessorato Ricerca Regione Campania, the Ente Parco Nazionale del Cilento e Vallo di Diano, and the Fondazione Banco di Napoli to M Ciullo." . _:7622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML"; rdfs:comment "All three populations belong to the Italian Network of Genetic Isolates (INGI), a project aimed at studying the genetic basis of complex diseases and phenotypes (including eating habits) [41]." . _:7632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML"; rdfs:comment "All three populations belong to the Italian Network of Genetic Isolates (INGI), a project aimed at studying the genetic basis of complex diseases and phenotypes (including eating habits) [41]." . _:7642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML"; rdfs:comment "All three populations belong to the Italian Network of Genetic Isolates (INGI), a project aimed at studying the genetic basis of complex diseases and phenotypes (including eating habits) [41]." . _:7652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7080768/fullTextXML"; rdfs:comment "We characterised whole-genome sequences from isolated populations localised in three different geographical areas of Italy" . _:7662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000458"; "Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability."; "PMID:34440402", "https://ega-archive.org/studies/EGAS00001000458"; rdfs:comment "This study includes Phase 2 whole-genome sequencing data (at 4x depth)of 100 individuals from an Italian genetic isolate population (Val Borbera, abbreviated VBI) of the Italian Network of Genetic Isolates (INGI)." . _:7672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90277987"; "Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?"; "PMID:37174278", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML"; rdfs:comment "All three populations belong to the Italian Network of Genetic Isolates (INGI), a project aimed at studying the genetic basis of complex diseases and phenotypes (including eating habits) [41]." . _:7682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31784700"; "A bird's-eye view of Italian genomic variation through whole-genome sequencing."; "PMID:31784700", "https://europepmc.org/articles/PMC7080768"; rdfs:comment "These populations belong to the INGI (Italian Network of Genetic Isolates) network." . _:7692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A network of Italian studies of genetically isolated populations, among them Val Borbera, Friuli Venezia Giulia, Carlantino and Cilento, combining genomic and phenotypic data to investigate genetic variation and complex traits."; "PMID:22479191", "PMID:31784700"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:76a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3292; "individuals of the INGI cohorts in the 2019 GWAS meta-analysis (analysed subset)"; "PMID:31784700"; rdfs:comment "GWAS analyses using the different imputation panels comprised a total of 3292 individuals (Supplementary Table 8)." . _:76b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1287; , ; "EGAS00001001158", "GCST90137504"; "A cohort of patients aged 18–75 with newly diagnosed stage I–IIIA primary melanoma, recruited in England from 2000 to 2012 and followed to investigate factors associated with tumour thickness and melanoma survival."; 2183; "LMC"; , ; rdfs:label "Leeds Melanoma Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1287 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:76c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1287; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36064556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Significant (P < 5 × 10-8) results were investigated in the Leeds Melanoma Cohort (LMC; 1,947 patients with melanoma; 370 melanoma deaths)." . _:76d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4065372/"; rdfs:comment "Population-ascertained incident melanoma cases were recruited to an ethically approved case-control study in a geographically defined area of the UK" . _:76e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001158"; "Leeds_Melanoma_Cohort"; "https://ega-archive.org/studies/EGAS00001001158"; rdfs:comment "Leeds Melanoma Cohort" . _:76f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90137504"; "Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting."; "PMID:36064556", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:36064556%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Significant (P < 5 × 10-8) results were investigated in the Leeds Melanoma Cohort (LMC; 1,947 patients with melanoma; 370 melanoma deaths)." . _:7702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients aged 18–75 with newly diagnosed stage I–IIIA primary melanoma, recruited in England from 2000 to 2012 and followed to investigate factors associated with tumour thickness and melanoma survival."; "PMID:31425707"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2183; "melanoma patients recruited 2000-2012"; "PMID:31425707"; rdfs:comment "2183 patients were recruited to the Leeds Melanoma Cohort (LMC) between 2000 and 2012 (Newton-Bishop et al., 2015)." . _:7722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LMC"; . a owl:NamedIndividual, ; , ; "EGAS00001000644", "GCST90239997", "MTBLS974", "PXD057946"; "A cohort of families containing at least two long-lived siblings, with men aged at least 89 years and women at least 91 years, and information on their relatives and spouses, assembled to identify inherited determinants of exceptional longevity."; "The acronym LLS also denotes Women's Health Initiative Long Life Study (COHO:0002569); this term is Leiden Longevity Study."@en; "LLS"; , , , ; rdfs:label "Leiden Longevity Study"@en . _:7732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13548661/fullTextXML"; rdfs:comment "The LLS, initiated in 2002 in the Netherlands, is an ongoing cohort" . _:7742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000644"; "Whole-genome sequence variation, population structure and demographic history of the Dutch population."; "PMID:24974849", "https://ega-archive.org/studies/EGAS00001000644"; rdfs:comment "Samples where contributed by LifeLines (http://lifelines.nl/lifelines-research/general), The Leiden Longevity Study (http://www.healthy-ageing.nl; http://www.langleven.net), The Netherlands Twin Registry" . _:7752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239997"; "Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels."; "PMID:26068415" . _:7762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS974"; "A metabolic profile of all-cause mortality risk identified in an observational study of 44,168 individuals."; "PMID:31431621", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS974"; rdfs:comment "The current dataset Leiden Longevity Study Sibs consists of 965 nonagenarian siblings" . _:7772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD057946"; "Extreme MetaboHealth scores in three cohort studies associate with plasma protein markers for inflammation and cholesterol transport."; "PMID:40926231", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD057946"; rdfs:comment "test for association with plasma proteins by comparing extreme scoring individuals selected from two large population cohorts -the Leiden Longevity Study (LLS) and the Rotterdam Study (RS) and discordant monozygotic twin pairs from the Netherlands Twin Register (NTR)." . _:7782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of families containing at least two long-lived siblings, with men aged at least 89 years and women at least 91 years, and information on their relatives and spouses, assembled to identify inherited determinants of exceptional longevity."; "PMID:16251894"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LLS"; . a owl:NamedIndividual, ; , , ; , ; "EGAS00001003944", "GCST90243958"; "A cohort of residents of the northern Netherlands and their families, recruited during 2006–2013 across three generations, with repeated examinations, questionnaires and stored biological samples to investigate environmental, phenotypic and genomic influences on chronic disease and healthy ageing."; 167729; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/LL"; "LL", "Lifeline study", "Lifelines"; , , ; rdfs:label "LifeLines"@en . _:77a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001003944"; rdfs:comment "Lifelines population living in the Northern parts of the Netherlands, and without recent antimicrobial use and occupational livestock contact" . _:77b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003944"; "Description and determinants of the faecal resistome and microbiome of farmers and slaughterhouse workers: A metagenome-wide cross-sectional study."; "PMID:32679392", "https://ega-archive.org/studies/EGAS00001003944"; rdfs:comment "Lifelines population living in the Northern parts of the Netherlands" . _:77c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243958"; "Rome III Criteria Capture Higher Irritable Bowel Syndrome SNP-Heritability and Highlight a Novel Genetic Link With Cardiovascular Traits."; "PMID:38643935", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:38643935%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We conducted GWAS meta-analyses of Rome III IBS and its subtypes in 24,735 IBS cases and 77,149 asymptomatic control subjects from 2 independent European cohorts (UK Biobank and Lifelines)." . _:77d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of residents of the northern Netherlands and their families, recruited during 2006–2013 across three generations, with repeated examinations, questionnaires and stored biological samples to investigate environmental, phenotypic and genomic influences on chronic disease and healthy ageing."; "PMID:25502107"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:77e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 167729; "participants with baseline data, recruited 2006-2013"; "PMID:25502107"; rdfs:comment "Baseline data were collected for 167 729 participants, aged from 6 months to 93 years." . _:77f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LL"; . a owl:NamedIndividual, ; , , ; "EGAS00001002619", "GCST90011772"; "A biobank of healthy Chinese and Malay participants from Singapore's Multi-Ethnic Cohort and Singapore Health 2012 collections, assembled for phenotype recall investigations of carriers of genetic variants with substantial effects."; 2452; "Living-Biobank", "Singapore Living Biobank"; , ; rdfs:label "Living Biobank"@en . _:7802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://academic.oup.com/jcem/article/105/12/3854/5906591"; rdfs:comment "sampled from 2 population-based cohorts in Singapore: the Multi-Ethnic Cohort (MEC) (14) and the Singapore Health 2012 (SH2012)" . _:7812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002619"; "Estimation of kinship coefficient in structured and admixed populations using sparse sequencing data."; "PMID:28961250", "https://ega-archive.org/studies/EGAS00001002619"; rdfs:comment "We generated whole-exome sequencing data and Illumina OmniExpress array genotyping data for 1,299 Chinese and 1,229 Malays from the Singapore Living Biobank." . _:7822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011772"; "Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia."; "PMID:32936915", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A32936915+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "Living Biobank study (N = 983 on GWAS array and whole-exome sequenced)" . _:7832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of healthy Chinese and Malay participants from Singapore's Multi-Ethnic Cohort and Singapore Health 2012 collections, assembled for phenotype recall investigations of carriers of genetic variants with substantial effects."; "https://ega-archive.org/studies/EGAS00001002619"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2452; "individuals with array genotypes analysed in 2017 (analysed subset)"; "PMID:28961250"; rdfs:comment "Using genotypes across 435,314 SNPs, we compared the ancestry backgrounds of 2,452 individuals in the Singapore Living Biobank with 268 individuals previously reported by the Singapore Genome Variation Project (SGVP) [ 54 ]." . _:7852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Living-Biobank"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1314; , ; "GCST001648", "PMID:42098873"; "A case-control collection of White and African-American women aged 35–64 in Los Angeles, United States, with invasive breast cancer or no previous breast cancer, contributing to the Women's Contraceptive and Reproductive Experiences investigation of breast cancer risk factors."; "The acronym CARE also denotes Canadian Airways Research Group (COHO:0000229), Cholesterol and Recurrent Events (COHO:0001569), Childhood Asthma Research and Education Network (COHO:0001570) and Candidate Gene Association Resource (COHO:0001586); this term is Los Angeles component of The Womens Contraceptive and Reproductive Experiences Study."@en; 380; 224; "CARE"; ; rdfs:label "Los Angeles component of The Womens Contraceptive and Reproductive Experiences Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1314 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1314; "breast cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2754711/unicode"; rdfs:comment "The Women's CARE Study is a population-based case-control study designed to examine risk factors for breast cancer among White and African-American women aged 35 to 64 years in five United States (US) regions (Atlanta, Seattle, Detroit, Philadelphia, and Los Angeles)." . _:7872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2756173/"; rdfs:comment "recruited women aged 35–64 years old diagnosed with invasive breast cancer between 1994–1998 from five metropolitan areas: Atlanta, Detroit, Los Angeles, Philadelphia, and Seattle." . _:7882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001648"; "A genome-wide association study of breast cancer in women of African ancestry."; "PMID:22923054", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3749077/"; rdfs:comment "Stage 1 of the GWAS included African American participants from 9 epidemiological studies of breast cancer, comprising a total of 3,153 cases and 2,831 controls (cases/controls: The Multiethnic Cohort study (MEC), 734/1,003; The Los Angeles component of The Women’s Contraceptive and Reproductive Experiences (CARE) Study, 380/224;" . _:7892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42098873"; "African ancestry and risk variants associated with triple-negative breast cancer susceptibility in African American women."; "PMID:42098873", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13321428/unicode"; rdfs:comment "the Los Angeles component of the Women’s Contraceptive and Reproductive Experiences Study" . _:78a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of White and African-American women aged 35–64 in Los Angeles, United States, with invasive breast cancer or no previous breast cancer, contributing to the Women's Contraceptive and Reproductive Experiences investigation of breast cancer risk factors."; "PMID:18628424"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:78b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 380; "African American cases and controls in the AABC GWAS scan (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; rdfs:comment "Cases in Los Angeles County were diagnosed from July 1, 1994 through April 30, 1998, and controls were sampled by random-digit dialing (RDD) from the same population and time period; 380 African American cases and 224 African American controls were included in Stage 1 of the scan." . _:78c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 224; "African American cases and controls in the AABC GWAS scan (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; rdfs:comment "Cases in Los Angeles County were diagnosed from July 1, 1994 through April 30, 1998, and controls were sampled by random-digit dialing (RDD) from the same population and time period; 380 African American cases and 224 African American controls were included in Stage 1 of the scan." . _:78d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE"; . a owl:NamedIndividual, ; , ; , ; "EGAS00001000910", "GCST001195"; "A research programme comprising two cohorts, the Lothian Birth Cohorts of 1921 and 1936, whose members took an intelligence test at age 11 in the Scottish Mental Surveys of 1932 and 1947 and were recruited in older age, mostly in Edinburgh and the Lothians, for repeated study of cognitive ageing."; "The acronym LBC also denotes Liver Biopsy Cohort (COHO:0002007); this term is Lothian Birth Cohorts."@en; "LBC", "Lothian Birth Cohort"; , ; rdfs:label "Lothian Birth Cohorts"@en . _:78e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6124629/fullTextXML"; rdfs:comment "The original Lothian Birth Cohorts of 1921 (LBC1921) and 1936 (LBC1936) were designed as follow-up studies to the Scottish Mental Surveys of 1932 (SMS1932) and 1947 (SMS1947), respectively." . _:78f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6124629/fullTextXML"; rdfs:comment "The original Lothian Birth Cohorts of 1921 (LBC1921) and 1936 (LBC1936) were designed as follow-up studies to the Scottish Mental Surveys of 1932 (SMS1932) and 1947 (SMS1947), respectively." . _:7902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6124629/"; rdfs:comment "participants of both Surveys, mostly living in Edinburgh and the surrounding area (the Lothians) in older age, were invited to participate" . _:7912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000910"; "DNA methylation repeatability in the Lothian Birth Cohorts of 1921 and 1936."; "https://ega-archive.org/studies/EGAS00001000910"; rdfs:comment "The Lothian Birth Cohort of 1921 and the Lothian Birth Cohort of 1936." . _:7922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001195"; "Genome-wide association studies establish that human intelligence is highly heritable and polygenic."; "PMID:21826061", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182557/fullTextXML"; rdfs:comment "We present here the results of a genome-wide association study (GWAS) which examines cognitive ability phenotype-genotype associations in the five cohorts which constitute the CAGES (Cognitive Ageing Genetics in England and Scotland) project: the Lothian Birth Cohorts of 1921 and 1936 (LBC1921, LBC1936), the Aberdeen Birth Cohort 1936 (ABC1936), and the Manchester and Newcastle Longitudinal Studies of Cognitive Aging (Supplementary Table 1)." . _:7932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research programme comprising two cohorts, the Lothian Birth Cohorts of 1921 and 1936, whose members took an intelligence test at age 11 in the Scottish Mental Surveys of 1932 and 1947 and were recruited in older age, mostly in Edinburgh and the Lothians, for repeated study of cognitive ageing."; "PMID:29546429"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:7942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1330; , ; "EGAS00001000936", "GCST007673"; "A registry of people with a first-ever stroke in the Lund-Orup district, identified through prospective and retrospective surveillance to describe stroke ascertainment, hospitalisation and patient outcomes."; 456; "LSR"; , ; rdfs:label "Lund Stroke Register"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1330 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1330; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24803595+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Ten-year follow-up was conducted among the survivors from a population-based group of 416 patients included in the Lund Stroke Register, Sweden, between March 1, 2001, and February 28, 2002." . _:7962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/24803595"; rdfs:comment "416 patients included in the Lund Stroke Register, Sweden, between March 1, 2001, and February 28, 2002" . _:7972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000936"; "Ischemic stroke in a Swedish case-control study."; "https://ega-archive.org/studies/EGAS00001000936"; rdfs:comment "Lund Stroke Register" . _:7982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST007673"; "Genome-wide association meta-analysis of functional outcome after ischemic stroke."; "PMID:30796134", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6511098/fullTextXML"; rdfs:comment "In 3 studies (Lund Stroke Register, Malmö Diet and Cancer Study, and parts of the Sahlgrenska Academy Study on Ischemic Stroke), data from the Swedish quality register for stroke (Riksstroke) were used to assess mRS by a validated translation algorithm.8,9" . _:7992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of people with a first-ever stroke in the Lund-Orup district, identified through prospective and retrospective surveillance to describe stroke ascertainment, hospitalisation and patient outcomes."; "PMID:17156265"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:79a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 456; "patients with first-ever stroke found in the register's first year of screening (2001-2002)"; "PMID:17156265"; rdfs:comment "A total of 456 patients with first-ever stroke (n = 412 prospective screening methods, n = 17 primary care, n = 12 hospital registers, n = 10 death register, n = 2 autopsy registers, n = 3 other)." . _:79b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LSR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1338; , ; "EGAS00001002123", "GCST90446466"; "A cohort of unrelated patients with documented venous thrombosis recruited at La Timone Hospital in Marseille, France, in 1994–2005, excluding recognised major thrombophilias, for investigation of genetic susceptibility to venous thrombosis."; 1592; "MARTHA", "Marseille Thrombosis Association"; , ; rdfs:label "Marseille Thrombosis Association Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1338 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:79c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1338; "venous thrombosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3181335/fullTextXML"; rdfs:comment "MARTHA patients (n = 1,592) are unrelated VT patients, mainly of French origin, consecutively recruited at the Thrombophilia center of La Timone hospital (Marseille, France) between January 1994 and October 2005." . _:79d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41467-023-38383-y"; rdfs:comment "Recruitment in MARTHA started in 1994 at Timone Hospital in Marseille (France) and is still ongoing." . _:79e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002123"; "Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels."; "PMID:28053049", "https://ega-archive.org/studies/EGAS00001002123"; rdfs:comment "Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analyzed, and results are presented here." . _:79f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446466"; "Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity."; "PMID:39424413", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A39424413+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "MARTHA [Marseille Thrombosis Association]" . _:7a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of unrelated patients with documented venous thrombosis recruited at La Timone Hospital in Marseille, France, in 1994–2005, excluding recognised major thrombophilias, for investigation of genetic susceptibility to venous thrombosis."; "PMID:21980494"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1592; "unrelated venous thrombosis patients recruited 1994-2005"; "PMID:21980494"; rdfs:comment "MARTHA patients (n = 1,592) are unrelated VT patients, mainly of French origin, consecutively recruited at the Thrombophilia center of La Timone hospital (Marseille, France) between January 1994 and October 2005." . _:7a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MARTHA"; . _:7a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marseille Thrombosis Association"; . a owl:NamedIndividual, ; , ; "EGAS00001005797", "GCST90296592", "PGS003443"; "A biobank of individuals from rural and urban localities across all 32 Mexican states, linking genome-wide genotypes to disease and complex-trait information to investigate population history and genetic and environmental contributions to health."; 6057; "MXB", "MXBB"; , , ; rdfs:label "Mexican Biobank"@en . _:7a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41586-023-06560-0"; rdfs:comment "recruited by the National Institute of Public Health (Instituto Nacional de Salud Pública) across all 32 states of Mexico." . _:7a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005797"; "Mexican Biobank Project"; "https://ega-archive.org/studies/EGAS00001005797"; rdfs:comment "we present the data from the Mexican Biobank Project" . _:7a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296592"; "Mexican Biobank advances population and medical genomics of diverse ancestries."; "PMID:37821706", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:37821706%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "To fill this gap, the Mexican Biobank project genotyped 6,057 individuals from 898 rural and urban localities across all 32 states in Mexico at a resolution of 1.8 million genome-wide markers with linked complex trait and disease information creating a valuable nationwide genotype-phenotype database." . _:7a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003443"; "The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes."; "PMID:37148359" . _:7a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of individuals from rural and urban localities across all 32 Mexican states, linking genome-wide genotypes to disease and complex-trait information to investigate population history and genetic and environmental contributions to health."; "PMID:37821706"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6057; "individuals genotyped from 898 localities in all 32 states (2023)"; "PMID:37821706"; rdfs:comment "To fill this gap, the Mexican Biobank project genotyped 6,057 individuals from 898 rural and urban localities across all 32 states in Mexico at a resolution of 1.8 million genome-wide markers with linked complex trait and disease information creating a valuable nationwide genotype–phenotype database." . _:7aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MXB"; . _:7ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MXBB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1355; , , , , , ; , ; "GCST001342"; "A cohort of families including siblings discordant for Alzheimer disease, with African-American and white family samples, assembled for genetic investigation through the Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) programme."; "MIRAGE also names a microRNA ageing score (mirAge) used in Rotterdam Study data; this term is the Multi-Institutional Research on Alzheimer Genetic Epidemiology study."@en; "Multi Institutional Research in Alzheimer's Genetic Epidemiology Study", "Multi-Institutional Research on Alzheimer Genetic Epidemiology"; ; rdfs:label "MIRAGE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1355 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1355; "Alzheimer disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3365264/"; rdfs:comment "MIRAGE is a family-based genetic epidemiological study of AD that enrolled AD cases and unaffected sibling controls at 17 clinical centers in the United States, Canada, Germany and Greece." . _:7ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3365264/"; rdfs:comment "enrolled AD cases and unaffected sibling controls at 17 clinical centers in the United States, Canada, Germany and Greece." . _:7ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001342"; "A comprehensive genetic association study of Alzheimer disease in African Americans."; "PMID:22159054", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=3356921"; rdfs:comment "Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) Study" . _:7af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of families including siblings discordant for Alzheimer disease, with African-American and white family samples, assembled for genetic investigation through the Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) programme."; "PMID:22159054"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1360; ; , ; "GCST000434"; "A consortium of schizophrenia case-control collections from three National Institute of Mental Health repository studies, including people of European and African-American ancestry, combining genetic data to identify schizophrenia-susceptibility variants."; 2681; 2653; "MGS", "MGS_nonGAIN", "Molecular Genetics of Schizophrenia"; ; rdfs:label "Molecular Genetics of Schizophrenia Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1360 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1360; "schizophrenia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2775422/unicode"; rdfs:comment "We carried out a genome-wide association study (GWAS) of common SNPs in the Molecular Genetics of Schizophrenia (MGS) case-control sample, and then a meta-analysis of data from the MGS, International Schizophrenia Consortium (ISC) and SGENE datasets." . _:7b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000167.v1.p1"; rdfs:comment "Cases met criteria for schizophrenia (SCZ) or schizoaffective disorder (SA) per the Diagnostic and Statistical Manual of Mental Disorders version IV (DSM-IV) for all three collections (SGI, MGS1, and MGS2) comprising these cases." . _:7b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000434"; "Common polygenic variation contributes to risk of schizophrenia and bipolar disorder."; "PMID:19571811", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3912837/unicode"; rdfs:comment "We exchanged GWAS summary results with the Molecular Genetics of Schizophrenia (MGS)" . _:7b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of schizophrenia case-control collections from three National Institute of Mental Health repository studies, including people of European and African-American ancestry, combining genetic data to identify schizophrenia-susceptibility variants."; "PMID:19571809"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2681; "European-ancestry cases and controls in the primary 2009 MGS GWAS (African American sample separate)"; "PMID:19571809"; rdfs:comment "Because the frequencies of tag SNPs and disease susceptibility alleles can vary across populations, we carried out a primary analysis of the larger MGS European-ancestry sample (2,681 cases, 2,653 controls) and then additional analyses of the African American sample (1,286 cases, 973 controls) and of both of these samples combined, to test the hypothesis that there are alleles that influence susceptibility in both populations." . _:7b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2653; "European-ancestry cases and controls in the primary 2009 MGS GWAS (African American sample separate)"; "PMID:19571809"; rdfs:comment "Because the frequencies of tag SNPs and disease susceptibility alleles can vary across populations, we carried out a primary analysis of the larger MGS European-ancestry sample (2,681 cases, 2,653 controls) and then additional analyses of the African American sample (1,286 cases, 973 controls) and of both of these samples combined, to test the hypothesis that there are alleles that influence susceptibility in both populations." . _:7b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGS"; . _:7b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGS_nonGAIN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1369; , , ; ; ; "GCST003431", "PMID:22848412"; "A project combining prospective population cohorts from European countries to examine cardiovascular risk factors and their associations with subsequent stroke and other cardiovascular events."; 93695; "MORGAM"; ; rdfs:label "MOnica Risk, Genetics, Archiving and Monograph"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1369 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1369; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19520994+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Follow-up data were collected in 43 cohorts in 18 populations in 8 European countries surveyed for cardiovascular risk factors." . _:7b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.thl.fi/publications/morgam/cohorts/tables/base_summary.htm"; rdfs:comment "ITA-PAM 21 01 1990-93" . _:7ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.thl.fi/publications/morgam/cohorts/tables/base_summary.htm"; rdfs:comment "RUS-NOH 24 02 2002-05" . _:7bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.thl.fi/publications/morgam/cohorts/full/contents.htm"; rdfs:comment "United Kingdom UNK-BEL: Belfast/PRIME Study UNK-CAE: Caerphilly UNK-EDI/GLA/SHH/SHE: Scottish Heart Health Extended Cohort (SHHEC)" . _:7bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/19520994"; rdfs:comment "Follow-up data were collected in 43 cohorts in 18 populations in 8 European countries" . _:7bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003431"; "Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium."; "PMID:26950853", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4780701/fullTextXML"; rdfs:comment "Stage II comprised individuals from: The Health, Aging, and Body Composition (Health ABC) Study; The Health Professionals Follow-Up Study (HPFS); The Nurses’ Health Study (NHS); PROSPER/PHASE Study; the Study of Health in Pomerania (SHIP); The Women’s Genome Health Study (WGHS); the MOnica Risk, Genetics, Archiving and Monograph (MORGAM) Study comprising the Alpha-Tocopherol, Beta-Carotene (ATBC) Study; The FINRISK Study; The PRIME Study (including the PRIME cohorts of Belfast, Lille, Strasbourg and Toulouse); The Northern Sweden Study." . _:7be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22848412"; "Genetic markers enhance coronary risk prediction in men: the MORGAM prospective cohorts."; "PMID:22848412", "https://europepmc.org/articles/PMC3405046"; rdfs:comment "MORGAM (MOnica Risk, Genetics, Archiving, Monograph) cohorts" . _:7bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining prospective population cohorts from European countries to examine cardiovascular risk factors and their associations with subsequent stroke and other cardiovascular events."; "PMID:19520994"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 93695; "persons free of cardiovascular disease at baseline in the 2009 MORGAM stroke analysis (43 cohorts, 18 populations)"; "PMID:19520994"; rdfs:comment "In 93 695 persons aged 19 to 77 years and free of major cardiovascular disease at baseline, total observation years were 1 234 252 and the number of stroke events analyzed was 3142." . _:7c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MORGAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1380; ; "GCST000366", "PMID:22162987"; "A project combining standardised cardiovascular surveillance in populations aged 35–64 years across 26 countries in Europe, North America and the Western Pacific to relate changes in mortality and morbidity to risk factors and medical care."; "MONICA"; ; rdfs:label "Monitoring of Trends and Determinants in Cardiovascular Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1380 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1380; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2807705+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Its objective is to measure trends in cardiovascular mortality and morbidity and to assess the extent to which these trends are related to changes in risk factor levels and/or medical care, measured at the same time in defined communities in different countries." . _:7c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2764985/"; rdfs:comment "The presented data were derived from the third population-based Monitoring of Trends and Determinants in Cardiovascular Disease (MONICA)/Cooperative Health Research in the Region of Augsburg (KORA) survey S3.13 This cross-sectional survey covering the city of Augsburg (Germany) and two adjacent counties was conducted in 1994/95 to estimate the prevalence and distribution of cardiovascular risk factors among individuals aged 25 to 74 years as part of the WHO MONICA study." . _:7c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000366"; "Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts."; "PMID:20031576", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20031576%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We conducted a genome-wide association analysis on 6 population-based studies, the Rotterdam Study, the Framingham Heart Study, the Cardiovascular Health Study, the Atherosclerosis Risk in Communities Study, the Monitoring of Trends and Determinants in Cardiovascular Disease/KORA Augsburg Study, and the British 1958 Birth Cohort Study, including 22 096 participants of European ancestry." . _:7c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22162987"; "RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies."; "PMID:22162987", "https://europepmc.org/articles/PMC3232218"; rdfs:comment "We conducted a case-cohort study within the population-based MONICA/KORA Augsburg studies." . _:7c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining standardised cardiovascular surveillance in populations aged 35–64 years across 26 countries in Europe, North America and the Western Pacific to relate changes in mortality and morbidity to risk factors and medical care."; "PMID:2807705"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONICA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1387; , ; , , , , ; "GCST90095178"; "A cohort of men and women aged 45–84 years from six United States centres, including White, African-American, Hispanic and Chinese-ancestry participants, established in 2000 to investigate the prevalence, determinants and progression of subclinical cardiovascular disease."; 6814; "MESA", "Multiethnic Study of Atherosclerosis"; ; rdfs:label "Multi-Ethnic Study of Atherosclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1387; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12397006+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Multi-Ethnic Study of Atherosclerosis was initiated in July 2000 to investigate the prevalence, correlates, and progression of subclinical cardiovascular disease (CVD) in a population-based sample of 6,500 men and women aged 45-84 years." . _:7c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nhlbi.nih.gov/science/multi-ethnic-study-atherosclerosis-mesa"; rdfs:comment "Patients were enrolled from six field centers across the United States over a two-year period." . _:7ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095178"; "Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation."; "PMID:34732054", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8692416/unicode"; rdfs:comment "Multi-Ethnic Study of Atherosclerosis" . _:7cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men and women aged 45–84 years from six United States centres, including White, African-American, Hispanic and Chinese-ancestry participants, established in 2000 to investigate the prevalence, determinants and progression of subclinical cardiovascular disease."; "PMID:12397006"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6814; "men and women aged 45-84 recruited 2000-2002"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; rdfs:comment "Between 2000 and 2002, MESA recruited 6,814 men and women 45 to 84 years of age from Forsyth County, North Carolina; New York City; Baltimore;" . _:7cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1394; "GCST002149"; "A project combining seven collections of families with multiple members affected by schizophrenia or schizoaffective disorder, including European-ancestry and admixed families from research sites in Europe, Australia and the United States, to investigate common and rare genetic contributions to schizophrenia."; "The acronym MFS also denotes the Maudsley Family Study (UK)."@en; 2461; "MFS"; ; rdfs:label "Multicenter Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1394 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1394; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22885689+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs)." . _:7cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002149"; "Genome-wide association analysis identifies 13 new risk loci for schizophrenia."; "PMID:23974872", "https://europepmc.org/articles/PMC3827979"; rdfs:comment "the Multicenter Family Study" . _:7d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining seven collections of families with multiple members affected by schizophrenia or schizoaffective disorder, including European-ancestry and admixed families from research sites in Europe, Australia and the United States, to investigate common and rare genetic contributions to schizophrenia."; "PMID:22885689"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2461; "genotyped individuals from 631 pedigrees in the 2012 family GWAS"; "PMID:22885689"; rdfs:comment "The family sample included 2,461 individuals from 631 pedigrees (581 in the primary European-ancestry analyses)." . _:7d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1400, _:genid-371333f489424440b12a13b9d98ced822608-genid1402; ; , ; , , , , , , , , ; "GCST90027067"; "A cohort of adults aged 45–75 years from multiple ethnic groups in Hawaii and California, principally Los Angeles County, recruited during 1993–1996 and followed prospectively to investigate diet and other determinants of cancer."; "The acronym MEC also denotes Singapore Multi-Ethnic Cohort (COHO:0000612); this term is Multiethnic Cohort Study of Diet and Health."@en; 215251; "MEC", "Multiethnic Cohort", "Multiethnic Cohort (MEC) Study", "Multiethnic Cohort Study"; , ; rdfs:label "Multiethnic Cohort Study of Diet and Health"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid1400 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1402 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1400; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10695593+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The authors describe the design and implementation of a large multiethnic cohort established to study diet and cancer in the United States." . _:7d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1402; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10695593+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The authors describe the design and implementation of a large multiethnic cohort established to study diet and cancer in the United States." . _:7d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4482109/"; rdfs:comment "living in Hawaii and in California (primarily Los Angeles County)" . _:7d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027067"; "Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study."; "PMID:34329319", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A34329319+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "Multiethnic Cohort-Adiposity Phenotype Study" . _:7d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 45–75 years from multiple ethnic groups in Hawaii and California, principally Los Angeles County, recruited during 1993–1996 and followed prospectively to investigate diet and other determinants of cancer."; "PMID:10695593"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 215251; "men and women aged 45-75 enrolled 1993-1996"; "PMID:10695593"; rdfs:comment "The cohort consists of 215,251 adult men and women (age 45-75 years at baseline) living in Hawaii and in California (primarily Los Angeles County) with the following ethnic distribution: African-American (16.3%), Latino (22.0%), Japanese-American (26.4%), Native Hawaiian (6.5%), White (22.9%), and other ancestry (5.8%)." . _:7d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEC"; . _:7da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Multiethnic Cohort Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1410; , ; "GCST90446466"; "A case-control collection of patients younger than 70 with a first deep-vein thrombosis or pulmonary embolism, recruited through six Dutch anticoagulation clinics in 1999–2004, with partner and population controls, for investigation of environmental and genetic thrombosis risk factors."; 5184; "MEGA", "Multiple Environmental and Genetic Assessment"; ; rdfs:label "Multiple Environmental and Genetic Assessment of Risk Factors for Venous Thrombosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1410 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1410; "venous thrombosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2726929/fullTextXML"; rdfs:comment "Between March 1999 and September 2004, consecutive patients aged <70 years with a first episode of deep venous thrombosis (leg or arm) or pulmonary embolism were included from the files of six participating anticoagulation clinics in the Netherlands (Amersfoort, Amsterdam, The Hague, Leiden, Rotterdam, and Utrecht)." . _:7dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2726929/fullTextXML"; rdfs:comment "Between March 1999 and September 2004, consecutive patients aged <70 years with a first episode of deep venous thrombosis (leg or arm) or pulmonary embolism were included from the files of six participating anticoagulation clinics in the Netherlands (Amersfoort, Amsterdam, The Hague, Leiden, Rotterdam, and Utrecht)" . _:7dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446466"; "Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity."; "PMID:39424413", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A39424413+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "MEGA [Multiple Environmental and Genetic Assessment]" . _:7de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of patients younger than 70 with a first deep-vein thrombosis or pulmonary embolism, recruited through six Dutch anticoagulation clinics in 1999–2004, with partner and population controls, for investigation of environmental and genetic thrombosis risk factors."; "PMID:19679614"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5184; "participating patients with first venous thrombosis, 1999-2004 (controls in two groups, no stated total)"; "PMID:19679614"; rdfs:comment "Of the remaining 6257 patients, 5184 participated (83%)." . _:7e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEGA"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-25. NHS Blood and Transplant is the special health authority through which the INTERVAL trial recruited its blood donors, not a cohort: the GWAS Catalog tags the study recorded under this term (GCST90243401) with INTERVAL, and its EGA study (EGAS00001000825) is INTERVAL's exome sequencing. Found when the sweep of the cached papers for sub-cohort links was checked (src/curation/link_sweep_2026-09-25.csv). See INTERVAL study (COHO:0000184)."; rdfs:label "obsolete National Health Service Blood and Transplant"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1417; , ; "EGAS00001005412", "GCST000270"; "A case-control collection of people with colorectal cancer and spouse or partner controls, established in 2003 across United Kingdom centres to identify inherited variants that confer susceptibility to colorectal cancer."; 8722; 2185; "NSCCG"; , ; rdfs:label "National Study of Colorectal Cancer Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1417 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1417; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17895893+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 2003, the National Study of Colorectal Cancer Genetics (NSCCG) was established with the aim of collecting DNA and clinicopathological data from 20,000 CRC cases and a series of spouse/partner controls, thereby creating a unique resource for identifying low-penetrance CRC susceptibility alleles." . _:7e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2360468/"; rdfs:comment "Sites of centres in the United Kingdom recruiting to NSCCG as of March 2007." . _:7e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005412"; "Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries."; "PMID:36539618", "https://ega-archive.org/studies/EGAS00001005412"; rdfs:comment "Genotype data of 7,281 individuals with colorectal cancer from the National Study of Colorectal Cancer Genetics (NSCCG) study." . _:7e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000270"; "Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer."; "PMID:19011631", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=2836775"; rdfs:comment "National Study of Colorectal Cancer Genetics (NSCCG)" . _:7e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with colorectal cancer and spouse or partner controls, established in 2003 across United Kingdom centres to identify inherited variants that confer susceptibility to colorectal cancer."; "PMID:17895893"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8722; "cases and spouse/partner controls entered by 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2360468/fullTextXML"; rdfs:comment "To date, blood samples and completed questionnaires have been collected from 8722 cases and 2185 controls." . _:7e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2185; "cases and spouse/partner controls entered by 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2360468/fullTextXML"; rdfs:comment "To date, blood samples and completed questionnaires have been collected from 8722 cases and 2185 controls." . _:7e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSCCG"; . a owl:NamedIndividual, ; ; , ; , , , , , , ; "EGAS00001000644", "GCST90240004"; "A registry of twins and their relatives with longitudinal phenotypic and genetic data, established to investigate inherited and environmental contributions to variation in health, fertility, development, growth and behaviour."; 200000; "NTR", "Netherlands Twin Register", "Netherlands Twin register"; , , ; rdfs:label "Netherlands Twin Registry"@en; rdfs:seeAlso . _:7e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7355279/"; rdfs:comment "recruits approximately 40% of new-born twins or higher-order multiples in the Netherlands for longitudinal research." . _:7ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000644"; "Whole-genome sequence variation, population structure and demographic history of the Dutch population."; "PMID:24974849", "https://ega-archive.org/studies/EGAS00001000644"; rdfs:comment "Samples where contributed by LifeLines (http://lifelines.nl/lifelines-research/general), The Leiden Longevity Study (http://www.healthy-ageing.nl; http://www.langleven.net), The Netherlands Twin Registry (NTR: http://www.tweelingenregister. org)" . _:7eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90240004"; "Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels."; "PMID:26068415" . _:7ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of twins and their relatives with longitudinal phenotypic and genetic data, established to investigate inherited and environmental contributions to variation in health, fertility, development, growth and behaviour."; "https://www.amsterdamumc.org/en/about/organization/nederlands-tweelingen-register-netherlands-twin-register-ntr"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200000; "twins and family members with longitudinal data (lower bound), 2024"; "https://www.amsterdamumc.org/en/about/organization/nederlands-tweelingen-register-netherlands-twin-register-ntr"; rdfs:comment "NTR collects longitudinal data from over 200,000 participants, including twins (40%) and their family." . _:7ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NTR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1432; , ; ; "GCST009008", "PMID:33634849"; "A case-control collection of women aged 18–80 with epithelial ovarian cancer and population controls from eastern Massachusetts and New Hampshire, recruited in four phases from 1984 to 2008 to investigate ovarian-cancer risk factors."; 2465; 2339; "NECC"; ; rdfs:label "New England-based Case-Control Study of Ovarian Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1432 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1432; "ovarian cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001034.v1.p1"; rdfs:comment "The project recruited cases from Eastern Massachusetts and New Hampshire, and became known as the New England-based Case-Control study (NECC) of ovarian cancer. 3957 ovarian cancer cases diagnosed at ages 18-80 and residing in Eastern Massachusetts and New Hampshire were identified through tumor boards and registries." . _:7f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001034.v1.p1"; rdfs:comment "The project recruited cases from Eastern Massachusetts and New Hampshire" . _:7f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST009008"; "Identification of novel epithelial ovarian cancer loci in women of African ancestry."; "PMID:31469419", "https://pmc.ncbi.nlm.nih.gov/articles/PMC7523187/"; rdfs:comment "We also thank other OCAC members who provided less than 10 EOC samples for the current analysis: Diether Lambrechts (BEL), Digna Velez Edwards (BVU), James Brenton (CAM), Mary Anne Rossing (DOV), Marc Goodman (HAW), Ellen Goode (MAY), Douglas Levine (MSK), Daniel Cramer (NEC)" . _:7f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33634849"; "Intrauterine device use and risk of ovarian cancer: Results from the New England Case-Control study and Nurses' Health Studies."; "PMID:33634849", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8720374/unicode"; rdfs:comment "Data from the New England Case-Control Study (NEC)" . _:7f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of women aged 18–80 with epithelial ovarian cancer and population controls from eastern Massachusetts and New Hampshire, recruited in four phases from 1984 to 2008 to investigate ovarian-cancer risk factors."; "PMID:33634849"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:7f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2465; "cases and controls enrolled across the four phases, 1984-2008"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8720374/unicode"; rdfs:comment "From the four study phases, 2,465 eligible women with ovarian cancer consented for participation and were subsequently enrolled as cases." . _:7f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2339; "cases and controls enrolled across the four phases, 1984-2008"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8720374/unicode"; rdfs:comment "From the four study phases, 2,465 eligible women with ovarian cancer consented for participation and were subsequently enrolled as cases." . _:7f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NECC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1441; , ; "GCST90295922"; "A cohort of patients with gastroparesis recruited through the Gastroparesis Clinical Research Consortium (GpCRC), a network of gastrointestinal tertiary centres in the United States sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), whose registry provided the gastroparesis cases of the GWAS Catalog study tagged NIDDK."; "NIDDK is the National Institute of Diabetes and Digestive and Kidney Diseases, a funding institute. The GWAS Catalog uses the cohort tag NIDDK for the NIDDK-sponsored Gastroparesis Clinical Research Consortium sample (GCST90295922), which is what this term denotes and which its paper calls the Gastroparesis Clinical Research Consortium cohort; studies that name NIDDK only as a funder (e.g. EGAS00001002937) are not this cohort."@en; 1400; "GpCRC", "NIDDK", "National Institute of Diabetes and Digestive and Kidney Diseases Gastroparesis Clinical Research Consortium"; ; rdfs:label "Gastroparesis Clinical Research Consortium cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1441 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:7f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1441; "gastroparesis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37688361+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We carried out a genome-wide association study (GWAS) meta-analysis on (i) 478 GP patients from the National Institute of Diabetes and Digestive and Kidney Diseases Gastroparesis Clinical Research Consortium (GpCRC) compared to 9931 population-based controls from the University of Michigan Health and Retirement Study" . _:7f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10576603/fullTextXML"; rdfs:comment "The Gastroparesis Clinical Research Consortium (GpCRC) is a network of GI tertiary centers in the United States" . _:7f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90295922"; "A pilot genome-wide association study meta-analysis of gastroparesis."; "PMID:37688361", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10576603/fullTextXML"; rdfs:comment "The Gastroparesis Clinical Research Consortium (GpCRC) is a network of GI tertiary centers in the United States sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) that aims to advance knowledge and treatments for GP." . _:7fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with gastroparesis recruited through the Gastroparesis Clinical Research Consortium (GpCRC), a network of gastrointestinal tertiary centres in the United States sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), whose registry provided the gastroparesis cases of the GWAS Catalog study tagged NIDDK."; "PMID:37688361"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:7fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1400; "participants enrolled in the GpCRC studies (approximate), 2022"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9691520/unicode"; rdfs:comment "We have enrolled approximately 1400 participants to date, with both delayed and normal emptying, in an approximately 3:1 ratio." . _:7fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GpCRC"; . _:7fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIDDK"; . a owl:NamedIndividual, ; , ; , , ; "GCST90244792"; "A cohort of adults from Nijmegen, the Netherlands, established in 2000 with population sampling from 2002 to investigate genetic variation, lifestyle and environmental exposures in relation to disease and population traits."; "The acronym NBS also denotes UK Blood Service Control Group (COHO:0000347); this term is Nijmegen Biomedical Study."@en; 9350; "NBS"; ; rdfs:label "Nijmegen Biomedical Study"@en . _:7fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9136713/"; rdfs:comment "Subjects from the Netherlands were recruited within the ‘Nijmegen Biomedical Study’" . _:7ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244792"; "A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney."; "PMID:36551779", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9775328/fullTextXML"; rdfs:comment "6468 participants who donated blood samples for the Nijmegen Biomedical Study" . _:8002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults from Nijmegen, the Netherlands, established in 2000 with population sampling from 2002 to investigate genetic variation, lifestyle and environmental exposures in relation to disease and population traits."; "PMID:28082374"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9350; "NBS-1 questionnaire responders, 2002"; "https://europepmc.org/api/getPdf?pmcid=PMC5837647"; rdfs:comment "The first phase of NBS was started in 2002: 22 451 inhabitants of the municipality of Nijmegen were invited, of whom 9350 filled out the questionnaire and 6468 donated a blood sample." . _:8022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBS"; . a owl:NamedIndividual, ; , ; ; "EGAS00001007915", "GCST010723"; "A cohort of adults aged 50 years and older living in private accommodation in Northern Ireland, recruited in 2013–2016 and followed through surveys and health assessments to investigate ageing, health and social circumstances."; 8283; "NICOLA"; , ; rdfs:label "Northern Ireland Cohort for Longitudinal Study of Ageing"@en . _:8032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10396407/fullTextXML"; rdfs:comment "The Northern Ireland Cohort for the Longitudinal Study of Ageing (NICOLA) is Northern Ireland’s largest health and social care cohort collecting longitudinal data from a representative sample of the over-50s population" . _:8042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007915"; "Baseline epigenetic clock measures in the Northern Ireland Cohort for the Longitudinal Study of Ageing (NICOLA)."; "PMID:41857591", "https://ega-archive.org/studies/EGAS00001007915"; rdfs:comment "In NICOLA we have 551,839 directly genotyped and 18,148,478 imputed Single Nucleotide Polymorphisms (SNPs) currently available for 2969 participants." . _:8052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST010723"; "Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease."; "PMID:32843070", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7449002/fullTextXML"; rdfs:comment "Northern Ireland Cohort for Longitudinal Study of Ageing" . _:8062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 50 years and older living in private accommodation in Northern Ireland, recruited in 2013–2016 and followed through surveys and health assessments to investigate ageing, health and social circumstances."; "PMID:37011634"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8283; "Wave 1 participants aged 50 and over, 2013-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10396407/fullTextXML"; rdfs:comment "8283 participants aged ≥50 years and living in private residential accommodation were recruited, from a randomized, stratified sample of Northern Ireland addresses, to the Wave 1 cohort between December 2013 and March 2016." . _:8082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NICOLA"; . a owl:NamedIndividual, ; , ; , , ; "EGAS50000000906", "GCST009696"; "A cohort of residents of Karesuando, Soppero and the Vittangi area in Norrbotten, northern Sweden, surveyed in 2006 and 2009 to characterise population health, including environmental and inherited determinants of allergic sensitisation."; 1068; "NSPHS"; , ; rdfs:label "Northern Sweden Population Health Study"@en . _:8092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3606982/"; rdfs:comment "a health survey of the population in the parish of Karesuando, county of Norrbotten, Sweden" . _:80a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000906"; "SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population."; "PMID:28832569", "https://ega-archive.org/studies/EGAS50000000906"; rdfs:comment "whole-genome sequencing data in CRAM-format for 58 individuals from the Northern Sweden Population Health Study" . _:80b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST009696"; "The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases."; "PMID:28915241", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5617224/fullTextXML"; rdfs:comment "Northern Sweden Population Health Study (NSPHS), the study cohort used in this project, was a health survey of the population in the parishes of Karesuando (year 2006) and Soppero (year 2009), county of Norrbotten." . _:80c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of residents of Karesuando, Soppero and the Vittangi area in Norrbotten, northern Sweden, surveyed in 2006 and 2009 to characterise population health, including environmental and inherited determinants of allergic sensitisation."; "PMID:23986895"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:80d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1068; "NSPHS participants in the 2013 allergy study (may be the analysed subset), 2009"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23986895+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study was conducted in Karesuando and Soppero in Northern Sweden as part of the Northern Sweden Population Health Study (n=1,068)." . _:80e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSPHS"; . a owl:NamedIndividual, ; , ; ; "EGAS00001001266", "GCST90104629"; "A birth cohort of children and their parents in Norway, recruited through pregnancies with births during 1999–2009, combining repeated family questionnaires, biological samples and health-register linkages for longitudinal research."; 114000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MoBa"; "MOBA", "MoBa", "NMFCC", "Norwegian Mother and Child Cohort", "Norwegian Mother and Child Cohort Study (MoBa)", "Norwegian Mother, Father and Child Cohort Study", "Norwegian Mother, Father and Child Cohort study", "Norwegian Mother, Father and Child cohort", "Norwegian Mother, Father, and Child Cohort", "Norwegian Mother, Father, and Child Cohort Study", "The Norwegian Mother, Father and Child Cohort Study"; , , , ; rdfs:label "Norwegian Mother and Child Cohort study"@en; rdfs:seeAlso . _:80f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.bmj.com/content/348/bmj.g1446"; rdfs:comment "participants were recruited from all over Norway during 1999-2008" . _:8102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001266"; "Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women."; "PMID:33239696", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7688949/fullTextXML"; rdfs:comment "The Norwegian MoBa (Mother, Father and Child Cohort Study) is a longitudinal study of over 110,000 pregnant women, their children and partners, recruited between 1999 and 2008 from maternity units throughout Norway" . _:8112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104629"; "Characterization of the genetic architecture of infant and early childhood body mass index."; "PMID:35315439", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A35315439+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "Norwegian Mother, Father and Child Cohort Study" . _:8122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of children and their parents in Norway, recruited through pregnancies with births during 1999–2009, combining repeated family questionnaires, biological samples and health-register linkages for longitudinal research."; "PMID:27063603"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 114000; "children only (lower bound); parents counted separately (2009)"; "PMID:27063603"; rdfs:comment "The cohort includes more than 114 000 children, 95 000 mothers and 75 000 fathers." . _:8142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOBA"; . _:8152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MoBa"; . _:8162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NMFCC"; . _:8172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Norwegian Mother and Child Cohort Study (MoBa)"; . a owl:NamedIndividual, ; , ; , , , , ; "EGAS00001000068", "GCST004927"; "A cohort of people aged 16–100 with Orcadian grandparents, recruited in Orkney, northern Scotland, in 2005–2011 for family-based investigation of genetic influences on cardiovascular and other complex-disease risks."; 2078; "ORCADES"; , ; rdfs:label "Orkney Complex Disease Study"@en . _:8182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://viking.ed.ac.uk/our-data-and-samples/cohorts"; rdfs:comment "in the isolated archipelago of the Orkney Isles in northern Scotland" . _:8192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000068"; "ORCADES_WGA"; "https://ega-archive.org/studies/EGAS00001000068"; rdfs:comment "400 subjects from the Orkney Complex Disease Study" . _:81a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004927"; "Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation."; "PMID:28878392", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5587582/fullTextXML"; rdfs:comment "The Orkney Complex Disease Study (ORCADES) is a family-based study of 2078 individuals aged 16–100 years recruited between 2005 and 2011 in the isolated Scottish archipelago of Orkney26." . _:81b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people aged 16–100 with Orcadian grandparents, recruited in Orkney, northern Scotland, in 2005–2011 for family-based investigation of genetic influences on cardiovascular and other complex-disease risks."; "https://viking.ed.ac.uk/our-data-and-samples/cohorts"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:81c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2078; "participants aged 16-100 recruited 2005-2011"; "https://viking.ed.ac.uk/our-data-and-samples/cohorts"; rdfs:comment "2078 participants aged 16-100 years were recruited between 2005 and 2011, most having three or four grandparents from Orkney, the remainder with two Orcadian grandparents." . _:81d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORCADES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1481, _:genid-371333f489424440b12a13b9d98ced822608-genid1483, _:genid-371333f489424440b12a13b9d98ced822608-genid1485; "GCST90129631"; "A randomised trial cohort of adults aged at least 50 with cardiovascular disease and dysglycaemia in 40 countries, enrolled during the two years ending December 2005 to compare insulin glargine with standard glycaemic care and omega-3 fatty acids with placebo for cardiovascular prevention."; 12612; "ORIGIN", "Outcome Reduction With Initial Glargine Intervention"; ; rdfs:label "Outcome Reduction With Initial Glargine Intervention Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1481 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1483 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1485 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:81e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1481; "dysglycemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18082485+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "People aged > or = 50 years with evidence of CV disease and with IFG, IGT, newly detected or established diabetes (on 0 or 1 oral agent), and a local glycated hemoglobin < 150% of the upper limit of normal for that assay were recruited" . _:81f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1483; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18082485+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "People aged > or = 50 years with evidence of CV disease and with IFG, IGT, newly detected or established diabetes (on 0 or 1 oral agent), and a local glycated hemoglobin < 150% of the upper limit of normal for that assay were recruited" . _:8202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1485; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18082485+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "People aged > or = 50 years with evidence of CV disease and with IFG, IGT, newly detected or established diabetes (on 0 or 1 oral agent), and a local glycated hemoglobin < 150% of the upper limit of normal for that assay were recruited" . _:8212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129631"; "Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases."; "PMID:35446786", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9220927/fullTextXML"; rdfs:comment "Outcome Reduction with an Initial Glargine Intervention" . _:8222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of adults aged at least 50 with cardiovascular disease and dysglycaemia in 40 countries, enrolled during the two years ending December 2005 to compare insulin glargine with standard glycaemic care and omega-3 fatty acids with placebo for cardiovascular prevention."; "PMID:18082485"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12612; "randomised participants (2005)"; "PMID:18082485"; rdfs:comment "A total of 12,612 (mean age 64, 35% women) people in 40 countries were randomized during a 2-year period ending December 2005." . _:8242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORIGIN"; . _:8252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Outcome Reduction With Initial Glargine Intervention"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1492; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; ; "EGAS00001002305", "GCST90292521"; "A consortium of ovarian cancer studies established in 2005 that combines participant data to investigate genetic and epidemiological risk factors for ovarian cancer."; 25509; 40941; "OCAC"; , ; rdfs:label "Ovarian Cancer Association Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1492 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1492; "ovarian cancer"; "https://ega-archive.org/studies/EGAS00001002305"; rdfs:comment "The array was used to genotype ovarian cancer cases and controls from multiple studies participating in the Ovarian Cancer Association Consortium, of which 54,747 passes QC." . _:8272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; rdfs:comment "Australian Cancer Study – Ovarian Cancer" . _:8282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; rdfs:comment "Australian Ovarian Cancer Study" . _:8292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; rdfs:comment "New England-based Case-Control Study" . _:82a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; rdfs:comment "Nurses' Health Study" . _:82b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; rdfs:comment "S.I.S.: The Sister Study (SISTER) is supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (Z01-ES044005 and Z01-ES049033)" . _:82c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3108970/fullTextXML"; rdfs:comment "The association of ovarian carcinoma risk with the polymorphism rs1271572 in the estrogen receptor beta (ESR2) gene was examined in 4946 women with primary invasive ovarian carcinoma and 6582 controls in a pooled analysis of ten case-control studies within the Ovarian Cancer Association Consortium (OCAC)." . _:82d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13578740/fullTextXML"; rdfs:comment "OCAC (Ovarian Cancer Association Consortium).aStudy acronyms and years of interview: AOV (Alberta Ovarian Tumor Types study, Canada, 1978–2010, PubMed ID: 25349970)" . _:82e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Centers collaborating in OCAC Name Acronym OCAC Acronym Country Australian Ovarian Cancer Study and Australian Cancer Study (Ovarian Cancer) AOCS/ACS AUS Australia Bavarian Ovarian Cancer Cases and Controls BOCC BAV Germany" . _:82f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Centers collaborating in OCAC Name Acronym OCAC Acronym Country Australian Ovarian Cancer Study and Australian Cancer Study (Ovarian Cancer) AOCS/ACS AUS Australia Bavarian Ovarian Cancer Cases and Controls BOCC BAV Germany Belgian Ovarian Cancer Study BELOCS BEL Belgium" . _:8302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2634713/fullTextXML"; rdfs:comment "Included in this report are data from 16 OCAC studies. Ten of these are from the USA: the Diseases of the Ovary and their Evaluation (DOVE)" . _:8312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3650102/unicode"; rdfs:comment "PVD Danish Pelvic Mass Study Denmark" . _:8322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Familial Ovarian Tumour Study FOTS TOR Canada" . _:8332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Genetic Epidemiology of Ovarian Cancer GEOCS STA USA" . _:8342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Helsinki Ovarian Cancer Study HOCS HOC Finland" . _:8352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Hannover-Jena Ovarian Cancer Study HJOCS HJO Germany" . _:8362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Hannover-Minsk Ovarian Cancer Study HMOCS HMO Germany" . _:8372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Hawaii Ovarian Cancer Study (none) HAW USA" . _:8382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Hormones and Ovarian Cancer Prediction HOPE HOP USA" . _:8392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "EEU is a combination of POC, HUO, WOC, POL and HMO." . _:83a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Los Angeles County Case-Control Studies of Ovarian Cancer LAC-CCOC USC USA" . _:83b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "The Danish Malignant Ovarian Tumour Study MALOVA MAL Denmark" . _:83c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "MD Anderson Ovarian Cancer Study MDA USA: Texas Hospital based/ Case-‐control" . _:83d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2634713/fullTextXML"; rdfs:comment "Included in this report are data from 16 OCAC studies. Ten of these are from the USA: the Diseases of the Ovary and their Evaluation (DOVE), the Genetic Epidemiology of Ovarian Cancer Study (GEOCS; previously FROCS) (Auranen et al, 2005; Song et al, 2006), the Hawaii Ovarian Cancer Study (HAWAII) (Goodman et al, 2001b), the Hormones and Ovarian Cancer Prediction Study (HOPE) (Pearce et al, 2008a), the Mayo Clinic Ovarian Cancer Case–Control Study (MAYO)" . _:83e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "MOF | 413 | 24 | 12 | 12 | | 341 | 0 | 238 | 12 | 28 | 15 | 48" . _:83f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Malaysia Ovarian Cancer Study MAS Malaysia" . _:8402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "North Carolina Ovarian Cancer Study NCOCS NCO USA" . _:8412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "New Jersey Ovarian Cancer Study NJOCS NJO USA" . _:8422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "NTH (29,30) Netherlands Nijmegen Ovarian Cancer Study 1997-2008 Population-based Self-completed questionnaire 55.90 (10.79) 600 (69.4) 265 (30.6)" . _:8432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Oregon Ovarian Cancer Registry ORE Portland, Oregon Case only" . _:8442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "AUS is a combination of RBH, AOC,OPL, ACS, WMH and MCC." . _:8452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Ovarian Cancer in Alberta and British Columbia Study OVAL-BC OVA Canada" . _:8462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5630285/fullTextXML"; rdfs:comment "OVCARE Gynecologic Tissue Bank and Outcomes Unit (VAN) study was funded by BC Cancer Foundation, VGH & UBC Hospital Foundation." . _:8472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "Participants from 28 studies (Table 1) in the Ovarian Cancer Association Consortium (OCAC) were genotyped on a custom Illumina iSelect BeadArray" . _:8482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Study of Epidemiology and Risk Factors in Cancer Heredity SEA UK: East Anglia and West Midlands Population based/ Case-‐control 1496 6067 99.1 1372(572)" . _:8492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Southampton Ovarian Cancer Study (none) SOC UK" . _:84a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "SON (32) Canada Southern Ontario Ovarian Cancer Study 1989-1993 Population-based Interview" . _:84b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "Participants from 28 studies (Table 1) in the Ovarian Cancer Association Consortium (OCAC) were genotyped on a custom Illumina iSelect BeadArray using centralized genotype calling and quality control procedures, as previously described (6)." . _:84c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "SWE | 1667 | 13 | 7 | 6 | | 105 | 0 | 67 | 6 | 13 | 2 | 17" . _:84d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Tampa Bay Ovarian Cancer Study TBOCS TBO USA" . _:84e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "UC Irvine Ovarian Cancer Study (none) UCI USA UK Ovarian Cancer Population Study UKOPS UKO UK" . _:84f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "United Kingdom Ovarian Cancer Population Study UKO United Kingdom (England, Wales and Northern Ireland) Population based/ Case-‐control 718 1123 98.1 702(353)" . _:8502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Warsaw Ovarian Cancer Study WOC Poland: Warsaw and central Poland Case-‐control 204 204 100 202(132)" . _:8512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002305"; "The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers."; "PMID:27697780", "https://ega-archive.org/studies/EGAS00001002305"; rdfs:comment "genotype ovarian cancer cases and controls from multiple studies participating in the Ovarian Cancer Association Consortium" . _:8522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90292521"; "Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease."; "PMID:38443389", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10915171/fullTextXML"; rdfs:comment "First, we undertook a GWAS of resection status in a large dataset from the Ovarian Cancer Association Consortium using complete resection vs any residual disease." . _:8532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of ovarian cancer studies established in 2005 that combines participant data to investigate genetic and epidemiological risk factors for ovarian cancer."; "https://sph.umich.edu/mocog/about.html"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25509; "OCAC cases and controls in the 2017 histotype GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5612337/unicode"; rdfs:comment "Genetic association analyses were performed using genotype data from 25,509 population-based EOC cases and 40,941 controls from OCAC and meta-analysis of these data with 19,036 BRCA1 and 12,412 BRCA2 mutation carriers from CIMBA, of whom 2,933 and 954, respectively, were affected with EOC." . _:8552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 40941; "OCAC cases and controls in the 2017 histotype GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5612337/unicode"; rdfs:comment "Genetic association analyses were performed using genotype data from 25,509 population-based EOC cases and 40,941 controls from OCAC and meta-analysis of these data with 19,036 BRCA1 and 12,412 BRCA2 mutation carriers from CIMBA, of whom 2,933 and 954, respectively, were affected with EOC." . _:8562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCAC"; . a owl:NamedIndividual; "OCS"; rdfs:comment "Obsoleted 2026-09-22. No study of this name could be identified. Its only hit in an EBI database is a text match of the acronym OCS to EGA study EGAS00001006555 (ovarian carcinosarcoma genomics), where OCS abbreviates ovarian carcinosarcoma; the human EGA review marked the match incorrect, and the GWAS Catalog has no OCS cohort tag. No cohort was identified for the term to be replaced by."@en; rdfs:label "obsolete Ovarian Cancer Study"@en; owl:deprecated true . _:8572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCS"; . a owl:NamedIndividual, ; , ; ; "EGAS00001002906", "GCST001220"; "A biobank of healthy men and women aged 30–50 years from Oxfordshire, United Kingdom, recruiting from 1999 and permitting recall by genotype or phenotype to investigate mechanisms of type 2 diabetes and cardiovascular disease."; 7640; "OBB"; , ; rdfs:label "Oxford Biobank"@en . _:8582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6618903/"; rdfs:comment "the Oxford BioBank study recruited 5,425 adults (aged 29‐55 years) from the general population of Oxfordshire, UK" . _:8592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4307976/fullTextXML"; rdfs:comment "The Oxford Biobank is supported by the Oxford Biomedical Research Centre and part of the National NIHR Bioresource." . _:85a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002906"; "Exome genotype data and phenotype data for the Oxford BioBank dataset."; "https://ega-archive.org/studies/EGAS00001002906"; rdfs:comment "Exome genotype data and phenotype data for the Oxford BioBank dataset" . _:85b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001220"; "A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection."; "PMID:21931564", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3169529/fullTextXML"; rdfs:comment "The MolOBB cohort comprised 69 participants in the Oxford Biobank (OBB) [20]." . _:85c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of healthy men and women aged 30–50 years from Oxfordshire, United Kingdom, recruiting from 1999 and permitting recall by genotype or phenotype to investigate mechanisms of type 2 diabetes and cardiovascular disease."; "PMID:29040543"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:85d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7640; "participants recruited by 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837504/fullTextXML"; rdfs:comment "The 7640 participants recruited so far in the OBB have a wide range of phenotypes that allow studying specific disease characteristics in relation to both their genotype and their phenotype." . _:85e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OBB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1550; ; ; "GCST90838701"; "A consortium of European childhood and adolescent cancer-survivor cohorts that combines cohort, case-control, genetic and intervention research to investigate treatment-related fertility impairment, hearing loss and health-related quality of life."; "PCL"; ; rdfs:label "PanCareLIFE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1550 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:85f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1550; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30273888+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Survival after cancer diagnosed during childhood or adolescence continues to improve with new treatments and supportive therapies. Optimal long-term care requires that risks to vulnerable organs are clearly defined and translated into guidelines that are implemented into practice. PanCareLIFE is a pan-European consortium that addresses survivorship issues comprising fertility, hearing impairment and quality of life." . _:8602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6444213/fullTextXML"; rdfs:comment "Data providers participating in WP4b and WP5 of PanCareLIFE: University of Bern, Instituto Giannina Gaslini, University Hospital Brno, Motol Teaching Hospital Prague, Kraeftens Bekaempelse, University Graz, Osteosarcoma clinical trial, University Hospital Muenster, Euramos clinical trial, University Lübeck, Academical Medical Center Amsterdam, Erasmus Medical Center Rotterdam, University Medical Center Groningen and Princess Máxima Center for Pediatric Oncology Utrecht." . _:8612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/30273888"; rdfs:comment "PanCareLIFE is a pan-European consortium that addresses survivorship issues" . _:8622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90838701"; "Interindividual variation in ovarian reserve after gonadotoxic treatment in female childhood cancer survivors - a genome-wide association study: results from PanCareLIFE."; "PMID:38729340", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A38729340+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "A discovery cohort of adult female childhood cancer survivors from the pan-European PanCareLIFE cohort" . _:8632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of European childhood and adolescent cancer-survivor cohorts that combines cohort, case-control, genetic and intervention research to investigate treatment-related fertility impairment, hearing loss and health-related quality of life."; "PMID:30273888"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1557, _:genid-371333f489424440b12a13b9d98ced822608-genid1559, _:genid-371333f489424440b12a13b9d98ced822608-genid1561; , ; "GCST001205", "PMID:40094665"; "A case-control collection of people with early-stage Parkinson disease and population controls in central California, recruited in 2000–2007 and 2010–2017 to investigate environmental and genetic determinants of Parkinson disease."; 634; 733; 1367; "PEG"; ; rdfs:label "Parkinson Environment and Gene"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1557 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1559 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1561 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1557; "Parkinson disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40094665+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Parkinson Environment and Genes (PEG) study in California (June 1, 2000, to July 31, 2017) included 634 patients with PD and 733 controls" . _:8662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1559; "pesticide exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11915066/fullTextXML"; rdfs:comment "The study included 634 cases and 733 controls (eFigure 1 in Supplement 1) with demographic (self-reported gender, race/ethnicity) and pesticide exposure data (eMethods in Supplement 1)." . _:8672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1561; "traffic-related air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11915066/fullTextXML"; rdfs:comment "The study included 634 cases and 733 controls (eFigure 1 in Supplement 1) with demographic (self-reported gender, race/ethnicity) and pesticide exposure data (eMethods in Supplement 1)." . _:8682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11915066/fullTextXML"; rdfs:comment "The Parkinson Environment and Genes (PEG) study is a population-based case-control study conducted in central California." . _:8692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001205"; "Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee."; "PMID:21876681", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3158052/fullTextXML"; rdfs:comment "For the present GWAIS, Replication samples were provided by PEG [20] (Parkinson, Environment, and Gene), PAGE [21] (Parkinson's, Genes, and Environment from the prospective NIH-AARP Diet and Health Study cohort), and HIHG [9] (Hussman Institute for Human Genomics)." . _:86a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40094665"; "Interaction Between Traffic-Related Air Pollution and Parkinson Disease Polygenic Risk Score."; "PMID:40094665", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=11915066"; rdfs:comment "The Parkinson Environment and Genes (PEG) study in California" . _:86b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with early-stage Parkinson disease and population controls in central California, recruited in 2000–2007 and 2010–2017 to investigate environmental and genetic determinants of Parkinson disease."; "PMID:40094665"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:86c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 634; "cases and controls in a 2025 analysis (analysed subset), 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11915066/fullTextXML"; rdfs:comment "PEG included 1367 participants (634 PD cases and 733 controls) (Table 1) with a mean (SD) age of 66.7 (11.2) years (623 [45.6%] female and 744 [54.4%] male; 27 [2.0%] African American, 64 [4.7%] American Indian or Alaska Native, 37 [2.7%] Asian, 263 [19.2%] Latino, and 976 [71.4%] White)." . _:86d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 733; "cases and controls in a 2025 analysis (analysed subset), 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11915066/fullTextXML"; rdfs:comment "PEG included 1367 participants (634 PD cases and 733 controls) (Table 1) with a mean (SD) age of 66.7 (11.2) years (623 [45.6%] female and 744 [54.4%] male; 27 [2.0%] African American, 64 [4.7%] American Indian or Alaska Native, 37 [2.7%] Asian, 263 [19.2%] Latino, and 976 [71.4%] White)." . _:86e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1367; "cases and controls in a 2025 analysis (analysed subset), 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11915066/fullTextXML"; rdfs:comment "PEG included 1367 participants (634 PD cases and 733 controls) (Table 1) with a mean (SD) age of 66.7 (11.2) years (623 [45.6%] female and 744 [54.4%] male; 27 [2.0%] African American, 64 [4.7%] American Indian or Alaska Native, 37 [2.7%] Asian, 263 [19.2%] Latino, and 976 [71.4%] White)." . _:86f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEG"; . a owl:NamedIndividual, ; , ; "EGAS00001000672", "GCST001675"; "A cohort of people from rural areas of the United Kingdom, principally with all four grandparents originating from the same local area, providing genetic controls and information on fine-scale population structure."; 4371; "PoBI"; , ; rdfs:label "People of the British Isles"@en . _:8702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.oum.ox.ac.uk/settlers/"; rdfs:comment "in 2004 researchers started to collect DNA from volunteers at rural locations throughout the UK" . _:8712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000672"; "WTCCC2 People of the British Isles (POBI) genotypes"; "https://ega-archive.org/studies/EGAS00001000672"; rdfs:comment "approximately 2,900 individuals from the People of the British Isles" . _:8722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001675"; "Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus."; "PMID:22961001", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3459818/fullTextXML"; rdfs:comment "This comprised 1,105 cases from ChOPIN and EAGLE and 4,421 controls from the 58C control dataset, all genotyped on the Illumina Immunochip23 (WTCCC2 contributed SNPs to the Immunochip design to allow for its replication studies, and the set of 100 SNPs followed up in our Stage 1 replication were all on the Immunochip), and a further set of 2,578 UK controls (the People of the British Isles (PoBI) collection 24) genotyped on the Illumina custom Human 1.2M-Duo array." . _:8732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people from rural areas of the United Kingdom, principally with all four grandparents originating from the same local area, providing genetic controls and information on fine-scale population structure."; "PMID:21829225"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4371; "samples (people) collected in the whole PoBI project (2015)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4632200/unicode"; rdfs:comment "In total 4,371 samples were collected as part of the PoBI project." . _:8752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PoBI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1577, _:genid-371333f489424440b12a13b9d98ced822608-genid1579; , ; "EGAS50000000708", "GCST90275189"; "A cohort of children aged 7–9 at baseline in Kuopio, Finland, enrolled in 2007–2009 for long-term follow-up comparing a physical-activity and dietary intervention with a control group through repeated health assessments."; 504; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PANIC"; "PANIC", "Physical Activity and Nutrition In Children"; , , ; rdfs:label "Physical Activity and Nutrition in Children Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid1577 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1579 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1577; "diet"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PANIC"; rdfs:comment "The Physical Activity and Nutrition in Children (PANIC) Study is an ongoing 8-year controlled physical activity and dietary intervention study in a large population sample of children who have been followed retrospectively since pregnancy and prospectively until adolescence and will finally be followed until early adulthood" . _:8772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1579; "physical activity"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PANIC"; rdfs:comment "The Physical Activity and Nutrition in Children (PANIC) Study is an ongoing 8-year controlled physical activity and dietary intervention study in a large population sample of children who have been followed retrospectively since pregnancy and prospectively until adolescence and will finally be followed until early adulthood" . _:8782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.sciencedirect.com/science/article/pii/S1526590016300190"; rdfs:comment "a population sample of primary school children from the city of Kuopio, Finland" . _:8792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000708"; "Saliva Microbiota of Finnish children from the PANIC study"; "https://ega-archive.org/studies/EGAS50000000708"; rdfs:comment "Saliva Microbiota of Finnish children aged between 6-8 yrs in the PANIC study. Baseline data. Studied for various lifestyle conditions and oral diseases (without caries/with caries)." . _:87a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90275189"; "Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth."; "PMID:37798380", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632150/supplementaryFiles#41588_2023_1520_MOESM1_ESM.pdf"; rdfs:comment "Physical Activity and Nutrition in Children study" . _:87b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of children aged 7–9 at baseline in Kuopio, Finland, enrolled in 2007–2009 for long-term follow-up comparing a physical-activity and dietary intervention with a control group through repeated health assessments."; "https://www.panicstudy.fi/front-page/about-the-panic-study/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:87c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 504; "children at baseline, 2007-2009"; "https://www.panicstudy.fi/front-page/about-the-panic-study/"; rdfs:comment "A total of 504 children aged 7–9 years participated in the baseline examinations in 2007–2009 and underwent extensive phenotypic assessments and blood sampling for biomarker analyses." . _:87d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANIC"; . a owl:NamedIndividual, ; , ; "EGAS00001004869", "GCST90002250"; "A cohort of Swedish-born people in Stockholm, Sweden, with bowel-symptom questionnaires, gastroenterological assessments and biological specimens assembled to investigate bowel function and gastrointestinal health."; 745; "PopCol"; , ; rdfs:label "Population-based Colonoscopy study"@en . _:87e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8654685/fullTextXML"; rdfs:comment "The Population-based Colonoscopy (PopCol) study is a cohort of Swedish-born individuals from Stockholm, Sweden" . _:87f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004869"; "Large-scale association analyses identify host factors influencing human gut microbiome composition."; "PMID:33462485", "https://ega-archive.org/studies/EGAS00001004869"; rdfs:comment "PopCol is a cohort study in Stockholm, Sweden that includes a data-rich set of individuals with data available from bowel symptoms questionnaires, gastroenterology visits and biospecimens (genotype and 16S sequencing from blood and stool samples, respectively)." . _:8802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002250"; "GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome."; "PMID:34957435", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8654685/fullTextXML"; rdfs:comment "The Population-based Colonoscopy (PopCol) study is a cohort of Swedish-born individuals from Stockholm, Sweden" . _:8812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Swedish-born people in Stockholm, Sweden, with bowel-symptom questionnaires, gastroenterological assessments and biological specimens assembled to investigate bowel function and gastrointestinal health."; "PMID:34957435"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 745; "general-population participants who underwent the research colonoscopy"; "PMID:39962642"; rdfs:comment "In the Swedish population-based colonoscopy (PopCol) study, 745 individuals from the general population underwent a colonoscopy of which 130 had diverticulosis, and none had diverticulitis." . _:8832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PopCol"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1593; , , , , ; , , , ; "EGAS00000000055", "GCST90271557"; "A case-control collection of people with coronary heart disease and an affected sibling, together with population controls, recruited in the United Kingdom, Italy, Sweden and Germany in 2004–2008 to investigate determinants of coronary disease."; 4073; 4225; "PROCARDIS"; , ; rdfs:label "Precocious Coronary Artery Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1593 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1593; "coronary heart disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5922567/"; rdfs:comment "CHD cases were recruited from four European countries (UK, Italy, Sweden and Germany) between 2004 and 2008" . _:8852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5922567/"; rdfs:comment "CHD cases were recruited from four European countries (UK, Italy, Sweden and Germany) between 2004 and 2008" . _:8862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000055"; "Genetic variants associated with Lp(a) lipoprotein level and coronary disease."; "PMID:20032323", "https://ega-archive.org/studies/EGAS00000000055"; rdfs:comment "Procardis study on novel susceptibility genes for coronary artery disease (CAD)" . _:8872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271557"; "GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification."; "PMID:37679419", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484788/supplementaryFiles#41588_2023_1462_MOESM6_ESM.xlsx"; rdfs:comment "PROCARDIS" . _:8882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with coronary heart disease and an affected sibling, together with population controls, recruited in the United Kingdom, Italy, Sweden and Germany in 2004–2008 to investigate determinants of coronary disease."; "PMID:29713486"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4073; "CAD cases and controls in the case-control cohort (2014 genotyping)"; "PMID:24925971"; rdfs:comment "The LPA null allele (rs41272114) was genotyped in the PROCARDIS (Precocious Coronary Artery Disease) case-control cohort (4073 CAD cases and 4225 controls)." . _:88a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4225; "CAD cases and controls in the case-control cohort (2014 genotyping)"; "PMID:24925971"; rdfs:comment "The LPA null allele (rs41272114) was genotyped in the PROCARDIS (Precocious Coronary Artery Disease) case-control cohort (4073 CAD cases and 4225 controls)." . _:88b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROCARDIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1602, _:genid-371333f489424440b12a13b9d98ced822608-genid1604; , ; ; "GCST000849", "PMID:15809377"; "A cohort of adults aged 25–74 years sampled from the general population of Monza, Italy, with office, home and ambulatory blood-pressure measurements and prospective mortality follow-up to evaluate cardiovascular risk prediction."; "PAMELA also names a HER2-positive breast cancer trial in the EGA; this term is the Italian blood pressure cohort."@en; 2051; "PAMELA"; ; rdfs:label "Pressioni Arteriose Monitorate E Loro Associazionie"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1602 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1604 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:88c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1602; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15809377+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Studies in hypertensive patients suggest that ambulatory blood pressure (BP) is prognostically superior to office BP. Much less information is available in the general population, however. Obtaining this information was the purpose of the Pressioni Arteriose Monitorate e Loro Associazioni (PAMELA) study." . _:88d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1604; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15809377+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Studies in hypertensive patients suggest that ambulatory blood pressure (BP) is prognostically superior to office BP. Much less information is available in the general population, however. Obtaining this information was the purpose of the Pressioni Arteriose Monitorate e Loro Associazioni (PAMELA) study." . _:88e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9659864/"; rdfs:comment "3200 subjects representative of the population of Monza (a town near Milan, Italy)" . _:88f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000849"; "Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension."; "PMID:21082022", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2965757/fullTextXML"; rdfs:comment "The validation cohorts were the MONItoring trends and determinants of CArdiovascular diseases (MONICA)/Pressioni Arteriose Monitorate E Loro Associazioni (PAMELA) studies (894 cases/746 controls) from Northern Italy [6], [28]," . _:8902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:15809377"; "Prognostic value of ambulatory and home blood pressures compared with office blood pressure in the general population: follow-up results from the Pressioni Arteriose Monitorate e Loro Associazioni (PAMELA) study."; "PMID:15809377", "https://europepmc.org/article/MED/15809377"; rdfs:comment "Pressioni Arteriose Monitorate e Loro Associazioni (PAMELA) study" . _:8912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 25–74 years sampled from the general population of Monza, Italy, with office, home and ambulatory blood-pressure measurements and prospective mortality follow-up to evaluate cardiovascular risk prediction."; "PMID:15809377"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2051; "adults aged 25-74 with office, home and ambulatory BP (baseline)"; "PMID:15809377"; rdfs:comment "Office, home, and 24-hour ambulatory BP values were obtained in 2051 subjects between 25 and 74 years of age who were representative of the general population of Monza (Milan, Italy)." . _:8932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAMELA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1612; , ; , , ; "EGAS00001003583", "GCST90096810", "MTBLS90"; "A cohort of people aged 70 sampled from the community register of Uppsala, Sweden, to investigate whether measurements of vascular structure and function predict subsequent cardiovascular events."; 1016; "PIVUS"; , , ; rdfs:label "Prospective Investigation of the Vasculature in Uppsala Seniors"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1612 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1612; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6827221/fullTextXML"; rdfs:comment "The PIVUS study is a population-based study of the cardiovascular health in the elderly [28]." . _:8952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8895748/fullTextXML"; rdfs:comment "individuals at the age of 70 years living in the community of Uppsala, Sweden were randomly selected from the community register" . _:8962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003583"; "Genetic regulation of gene expression and splicing during a 10-year period of human aging."; "PMID:31684996", "https://ega-archive.org/studies/EGAS00001003583"; rdfs:comment "We performed RNA sequencing in whole-blood from the same individuals from the PIVUS study at ages 70 and 80 to quantify how gene expression, alternative splicing, and their genetic regulation are altered during this 10-year period of advanced aging." . _:8972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90096810"; "Blood copper and risk of cardiometabolic diseases: a Mendelian randomization study."; "PMID:34523676", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A34523676+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "Prospective investigation of the Vasculature in Uppsala Seniors study" . _:8982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS90"; "Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease."; "PMID:25502724", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS90"; rdfs:comment "Large-scale non-targeted serum metabolomics in the Prospective Investigation of the Vasculature in Uppsala Seniors" . _:8992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people aged 70 sampled from the community register of Uppsala, Sweden, to investigate whether measurements of vascular structure and function predict subsequent cardiovascular events."; "PMID:34523676"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:89a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1016; "70-year-olds recruited at baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8895748/fullTextXML"; rdfs:comment "Of 2025 invited, 1016 participants were recruited." . _:89b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIVUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1621; , , , , , ; "GCST005527"; "A case-control collection of people of European ancestry with psoriasis and unaffected controls recruited at participating institutions for genetic analysis using the Immunochip."; "The acronym PAGE also denotes Placental Abruption Genetic Epidemiology study (COHO:0001268), Parkinson's, Genes, and Environment Study (COHO:0002232) and Population Architecture using Genomics and Epidemiology Study (COHO:0002752); this term is Psoriasis Association Genetics Extension."@en; 3580; 5902; 9482; "PAGE"; ; rdfs:label "Psoriasis Association Genetics Extension"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1621 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:89c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1621; "psoriasis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "We combined three existing GWAS datasets (hereafter referred to as Kiel3, CASP4 and WTCCC25) with two independent European-descent case-control datasets genotyped on the Immunochip: the Psoriasis Association Genetics Extension (PAGE: 3,580 cases and 5,902 controls) and the Genetic Analysis of Psoriasis Consortium (GAPC: 2,997 cases and 9,183 controls)" . _:89d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://researchonline.lshtm.ac.uk/2064717/1/NIHMS416128-supplement-1.pdf"; rdfs:comment "USA UMich/NPF/HFH UMich/FIMR/NPF 1,351 2,694 Canada UToronto/MU UToronto 362 20 PAGE Immunochip Estonia UTartu/EGCUT EGCUT 1,295 898 Germany CAU Kiel CAU Kiel/KORA/HNR 572 2,290" . _:89e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005527"; "Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity."; "PMID:23143594", "https://europepmc.org/articles/PMC3510312"; rdfs:comment "Psoriasis Association Genetics Extension (PAGE: 3,580 cases and 5,902 controls)" . _:89f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people of European ancestry with psoriasis and unaffected controls recruited at participating institutions for genetic analysis using the Immunochip."; "PMID:23143594"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3580; "cases and controls genotyped on the Immunochip (after QC, as used in the 2012 meta-analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "PAGE 3,580 5,902 9,482 0.992" . _:8a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5902; "cases and controls genotyped on the Immunochip (after QC, as used in the 2012 meta-analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "PAGE 3,580 5,902 9,482 0.992" . _:8a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9482; "cases and controls genotyped on the Immunochip (after QC, as used in the 2012 meta-analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "PAGE 3,580 5,902 9,482 0.992" . _:8a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1630, _:genid-371333f489424440b12a13b9d98ced822608-genid1632, _:genid-371333f489424440b12a13b9d98ced822608-genid1634, _:genid-371333f489424440b12a13b9d98ced822608-genid1636, _:genid-371333f489424440b12a13b9d98ced822608-genid1638; , , , , , , , , , ; "EGAS00001001960", "GCST001241"; "A consortium of genome-wide association studies that combines data on attention deficit hyperactivity disorder, autism, bipolar disorder, major depressive disorder and schizophrenia through meta-analysis to investigate genetic susceptibility to psychiatric disorders."; 33332; 27888; "PGC", "Psychiatric Genetics Consortium", "Psychiatric Genomic Consortium", "Psychiatric Genomics Consortium", "Psychiatry Genomics Consortium"; , ; rdfs:label "Psychiatric GWAS Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1630 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1632 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1634 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1630; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20955924+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Psychiatric GWAS Consortium was founded with the aim of conducting statistically rigorous and comprehensive GWAS meta-analyses for five major psychiatric disorders: ADHD, autism, bipolar disorder, major depressive disorder, and schizophrenia." . _:8a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1632; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20955924+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Psychiatric GWAS Consortium was founded with the aim of conducting statistically rigorous and comprehensive GWAS meta-analyses for five major psychiatric disorders: ADHD, autism, bipolar disorder, major depressive disorder, and schizophrenia." . _:8a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1634; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20955924+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Psychiatric GWAS Consortium was founded with the aim of conducting statistically rigorous and comprehensive GWAS meta-analyses for five major psychiatric disorders: ADHD, autism, bipolar disorder, major depressive disorder, and schizophrenia." . _:8a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1636; "autism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20955924+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Psychiatric GWAS Consortium was founded with the aim of conducting statistically rigorous and comprehensive GWAS meta-analyses for five major psychiatric disorders: ADHD, autism, bipolar disorder, major depressive disorder, and schizophrenia." . _:8a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1638; "attention deficit hyperactivity disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20955924+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Psychiatric GWAS Consortium was founded with the aim of conducting statistically rigorous and comprehensive GWAS meta-analyses for five major psychiatric disorders: ADHD, autism, bipolar disorder, major depressive disorder, and schizophrenia." . _:8a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20732625+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from four projects: a) the Children's Hospital of Philadelphia (CHOP); b) phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II); and d) the Pfizer-funded study from the University of California, Los Angeles, Washington University, and Massachusetts General Hospital (PUWMa)." . _:8aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM3_ESM.xlsx"; rdfs:comment "PGC ID Study name Genotypes in a repository? If no, why not? If yes, where deposited? If yes, accession number Note mdd_boma_eur Bonn-Mannheim MDD study" . _:8ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3637176/unicode"; rdfs:comment "Sample Ancestry Case (n)a Control (n)b Platformc Publicationd BOMA- Bipolar Study, University of Bonn and CIMH Mannheim German 675 1297 550 –" . _:8ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "GenRED 2283 1030 1253" . _:8ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM1_ESM.pdf"; rdfs:comment "Sample size of all PGC29 cohorts: boma (Ncas=586; Ncon=1,062); cof3 (Ncas=120; Ncon=126); col3 (Ncas=507; Ncon=1,445); edi2 (Ncas=372; Ncon=285); gens (Ncas=1,019; Ncon=1,344); gep3 (Ncas=482; Ncon=2,836); grdg (Ncas=471; Ncon=470); grnd (Ncas=830; Ncon=474); gsk2 (Ncas=880; Ncon=861); i2b3 (Ncas=806; Ncon=1,067)" . _:8ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5441062/"; rdfs:comment "NIMH Repository and Montreal/Boston (MonBos) Collection Trios 117 117a 4.1:1 95.5" . _:8af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864 MDD2000-QIMR_610 1184 433 751 MDD2000-QIMR_317 1977 1017 960 MPIP 913 376 537" . _:8b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3637176/"; rdfs:comment "Pritzker Neuropsychiatric Disorders Research Consortium European-American 1130 718 550 [9]" . _:8b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "RADIANT 3213 1625 1588" . _:8b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3637176/unicode"; rdfs:comment "Thematically Organized Psychosis (TOP) Study Norwegian 203 349 6.0" . _:8b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001960"; "Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects."; "PMID:27869829", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC5737772/unicode"; rdfs:comment "Here, we report the largest genome-wide analysis of CNVs for any psychiatric disorder to date, using datasets assembled by the Schizophrenia Working Group of the PGC." . _:8b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001241"; "Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4."; "PMID:21926972", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=3637176"; rdfs:comment "Psychiatric Genome-wide Association Study Consortium (PGC)" . _:8b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of genome-wide association studies that combines data on attention deficit hyperactivity disorder, autism, bipolar disorder, major depressive disorder and schizophrenia through meta-analysis to investigate genetic susceptibility to psychiatric disorders."; "PMID:20955924"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 33332; "cases and controls (controls include trio pseudocontrols) across the five disorders in the 2013 cross-disorder analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3714010/"; rdfs:comment "The final dataset consisted of 33 332 cases and 27 888 controls (including pseudocontrols formed from non-transmitted alleles) distributed among the five disorder groups: autism spectrum disorders (4788 trio cases, 4788 trio pseudocontrols, 161 cases, 526 controls), attention deficit-hyperactivity disorder (1947 trio cases, 1947 trio pseudocontrols, 840 cases, 688 controls), bipolar disorder (6990 cases, 4820 controls), major depressive disorder (9227 cases, 7383 controls), and schizophrenia (9379 cases, 7736 controls)." . _:8b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27888; "cases and controls (controls include trio pseudocontrols) across the five disorders in the 2013 cross-disorder analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3714010/"; rdfs:comment "The final dataset consisted of 33 332 cases and 27 888 controls (including pseudocontrols formed from non-transmitted alleles) distributed among the five disorder groups: autism spectrum disorders (4788 trio cases, 4788 trio pseudocontrols, 161 cases, 526 controls), attention deficit-hyperactivity disorder (1947 trio cases, 1947 trio pseudocontrols, 840 cases, 688 controls), bipolar disorder (6990 cases, 4820 controls), major depressive disorder (9227 cases, 7383 controls), and schizophrenia (9379 cases, 7736 controls)." . _:8b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGC"; . a owl:NamedIndividual, ; , ; "GCST003382", "PMID:26997371"; "A project combining the RADAR-Young and RADAR-Old adolescent cohorts in the Netherlands, followed through repeated questionnaires to investigate development and relationships with parents, friends and romantic partners."; "RADAR also names the cohort of children of radiation-exposed radar technicians in the EGA (COHO:0000326, EGAS00001007321); this term is the Dutch adolescent development study."@en; "Radar"; ; rdfs:label "Research on Adolescent Development and Relationships"@en . _:8b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://journals.sagepub.com/doi/abs/10.1177/08902070221119782"; rdfs:comment "Participants were recruited via 230 randomly selected elementary schools from several medium-sized cities in the center of the Netherlands." . _:8ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003382"; "Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium."; "PMID:27023175", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4872459/fullTextXML"; rdfs:comment "Data of the RADAR study were used." . _:8bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26997371"; "Genome-wide DNA methylation levels and altered cortisol stress reactivity following childhood trauma in humans."; "PMID:26997371", "https://europepmc.org/articles/PMC4802173"; rdfs:comment "Research on Adolescent Development and Relationships Young cohort" . _:8bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining the RADAR-Young and RADAR-Old adolescent cohorts in the Netherlands, followed through repeated questionnaires to investigate development and relationships with parents, friends and romantic partners."; "PMID:40153111"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Radar"; . a owl:NamedIndividual, ; , , ; , ; , , , , ; "EGAS00001008117", "GCST90013658", "PXD057946"; "A cohort of middle-aged and older residents of Rotterdam, the Netherlands, established in 1990 and followed prospectively to investigate the causes, early development and natural history of chronic diseases and possible targets for intervention."; 17931; "RS", "Rotterdam"; , , ; rdfs:label "Rotterdam Study"@en . _:8be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/32367290"; rdfs:comment "The Rotterdam Study is an ongoing prospective cohort study that started in 1990 in the city of Rotterdam, The Netherlands" . _:8bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008117"; "Plasma MicroRNA Signatures of Aging"; "https://ega-archive.org/studies/EGAS00001008117"; rdfs:comment "2,684 participants from the population-based Rotterdam Study cohort" . _:8c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013658"; "Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps."; "PMID:33717105", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33717105%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed a genome-wide association study (GWAS) and exome-sequencing analysis to identify common and rare genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for NETs, in the population-based Rotterdam Study cohort." . _:8c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD057946"; "Extreme MetaboHealth scores in three cohort studies associate with plasma protein markers for inflammation and cholesterol transport."; "PMID:40926231", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12418662/fullTextXML"; rdfs:comment "Using a Luminex cytokine assay and liquid chromatography-mass spectrometry-based proteomics we explored the plasma proteins associating with the difference in 100 extreme scoring individuals selected from two large population cohorts, the Leiden Longevity Study (LLS) and the Rotterdam Study (RS), and discordant monozygotic twin pairs from the Netherlands Twin Register (NTR)." . _:8c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of middle-aged and older residents of Rotterdam, the Netherlands, established in 1990 and followed prospectively to investigate the causes, early development and natural history of chronic diseases and possible targets for intervention."; "PMID:32367290"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17931; "participants aged 40 and over across the four sub-cohorts (RS-I to RS-IV), 2024"; "PMID:38324224"; rdfs:comment "The study currently includes 17,931 participants (overall response rate 65%), aged 40 years and over, who are examined in-person every 3 to 5 years in a dedicated research facility, and who are followed-up continuously through automated linkage with health care providers, both regionally and nationally." . _:8c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1668; , ; "EGAS00001003103", "GCST003521", "PMID:23066387"; "A cohort of families recruited through members with asthma in the founder population of Saguenay–Lac-Saint-Jean, Quebec, Canada, with respiratory, allergy and genetic measurements to investigate inherited determinants of asthma and related traits."; 1394; "SLSJ", "SLSJ asthma familial cohort", "Saguenay-Lac-Saint-Jean study"; , ; rdfs:label "Saguenay-Lac-Saint-Jean asthma study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1668 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1668; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24646526+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Recruitment was performed through probands with a specific asthma phenotype. The collection includes 1394 individuals distributed in 271 families." . _:8c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/24646526"; rdfs:comment "a familial collection was built in the Saguenay-Lac-Saint-Jean (SLSJ) region, which is localized in northeastern Quebec, Canada" . _:8c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003103"; "Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits."; "PMID:30206357", "https://ega-archive.org/studies/EGAS00001003103"; rdfs:comment "Samples from 149 trios from the Saguenay-Lac-Saint-Jean asthma familial cohort were all sequenced using a custom capture panel developed by our group, followed by next-generation sequencing." . _:8c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003521"; "Identification of Susceptibility Genes of Adult Asthma in French Canadian Women."; "PMID:27445529", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4904514/fullTextXML"; rdfs:comment "Asthma-associated SNPs were tested for replication in women participants of the Saguenay-Lac-Saint-Jean (SLSJ) asthma family collection (n = 353)." . _:8c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23066387"; "Association study of genes associated to asthma in a specific environment, in an asthma familial collection located in a rural area influenced by different industries."; "PMID:23066387", "https://europepmc.org/articles/PMC3447577"; rdfs:comment "a familial collection from a founder and remote population (Saguenay–Lac-Saint-Jean; SLSJ)" . _:8ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of families recruited through members with asthma in the founder population of Saguenay–Lac-Saint-Jean, Quebec, Canada, with respiratory, allergy and genetic measurements to investigate inherited determinants of asthma and related traits."; "PMID:24646526"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1394; "individuals in 271 families (2014)"; "PMID:24646526"; rdfs:comment "The collection includes 1394 individuals distributed in 271 families." . _:8cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLSJ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1677; ; , ; , ; "EGAS00001000936", "GCST005412"; "A case-control collection of patients with acute ischaemic stroke before the age of 70, recruited in Gothenburg, Sweden, from 1998, and matched population controls, with longitudinal patient follow-up to investigate stroke risk factors and outcomes."; 600; 600; "SAHLSIS"; , ; rdfs:label "Sahlgrenska Academy Study on Ischemic Stroke"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1677 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1677; "ischaemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6260132/fullTextXML"; rdfs:comment "These participants included 600 cases with ischaemic stroke at ages 18 to 69 years and 600 controls matched for age and sex from the Sahlgrenska Academy Study on Ischemic Stroke (SAHLSIS 28 )" . _:8ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9684578/"; rdfs:comment "were recruited consecutively at the stroke unit at the Sahlgrenska University Hospital, Gothenburg, Sweden during 1998–2003" . _:8cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000936"; "Ischemic stroke in a Swedish case-control study."; "https://ega-archive.org/studies/EGAS00001000936"; rdfs:comment "Sahlgrenska Academy Study on Ischemic Stroke" . _:8d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005412"; "A Genome-wide Study of Common and Rare Genetic Variants Associated with Circulating Thrombin Activatable Fibrinolysis Inhibitor."; "PMID:29378355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6260132/fullTextXML"; rdfs:comment "These participants included 600 cases with ischaemic stroke at ages 18 to 69 years and 600 controls matched for age and sex from the Sahlgrenska Academy Study on Ischemic Stroke (SAHLSIS 28 ) and 2,060 population-based participants from the prospective Malmö Diet and Cancer Study (MDC 29 ) of whom 1,812 have not had a cardiovascular event and 248 had an ischaemic stroke during follow-up." . _:8d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of patients with acute ischaemic stroke before the age of 70, recruited in Gothenburg, Sweden, from 1998, and matched population controls, with longitudinal patient follow-up to investigate stroke risk factors and outcomes."; "PMID:36418382", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4056331/"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:8d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "consecutive ischaemic stroke cases aged 18-69 and age- and sex-matched controls"; "PMID:15933254"; rdfs:comment "Six hundred consecutive white participants with ischemic stroke (18 to 69 years) and 600 age- and sex-matched controls were examined for vascular risk factors and family history of stroke and myocardial infarction (MI)." . _:8d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "consecutive ischaemic stroke cases aged 18-69 and age- and sex-matched controls"; "PMID:15933254"; rdfs:comment "Six hundred consecutive white participants with ischemic stroke (18 to 69 years) and 600 age- and sex-matched controls were examined for vascular risk factors and family history of stroke and myocardial infarction (MI)." . _:8d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAHLSIS"; . a owl:NamedIndividual, ; , ; "EGAS00001002212", "GCST90001391"; "A cohort of residents aged 14–102 at baseline from four towns in the Ogliastra region of Sardinia, Italy, established in 2001 for longitudinal investigation of genetic influences on ageing, cardiovascular risk factors, personality and other age-related traits."; 6148; "SardiNIA"; , ; rdfs:label "SardiNIA Study of Aging"@en . _:8d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000338.v1.p1"; rdfs:comment "recruited 6,148 Sardinians aged 14 and older, from a cluster of four towns in the Lanusei Valley in the Ogliastra region" . _:8d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002212"; "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers."; "PMID:26366554", "https://ega-archive.org/studies/EGAS00001002212"; rdfs:comment "The dataset includes the VCF files with the list of variants, and their frequency, found in 3,514 Sardinian individuals recruited from the SardiNIA longitudinal study (N=2090) and from a case-control study of autoimmune diseases in Sardinia (N=1424)." . _:8d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90001391"; "Complex genetic signatures in immune cells underlie autoimmunity and inform therapy."; "PMID:32929287", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8517961/unicode"; rdfs:comment "The SardiNIA project is a longitudinal study comprising 6,602 general population individuals" . _:8d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of residents aged 14–102 at baseline from four towns in the Ogliastra region of Sardinia, Italy, established in 2001 for longitudinal investigation of genetic influences on ageing, cardiovascular risk factors, personality and other age-related traits."; "https://sardinia.nia.nih.gov/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6148; "participants aged 14-102 recruited at baseline from four towns (2006)"; "PMID:16934002"; rdfs:comment "We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia." . _:8da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SardiNIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1692; , ; "EGAS00001001459", "GCST90061374"; "A registry of patients with diabetes recruited through hospitals in Scania, Sweden, from 1996, with clinical follow-up and biological samples to classify diabetes subgroups and investigate genetic and biomarker predictors of complications."; 7400; "SDR"; , ; rdfs:label "Scania Diabetes Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1692 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1692; "diabetes"; "https://researchdata.se/en/catalogue/dataset/ext0074-1"; rdfs:comment "The Scania Diabetes Registry contains over 7000 diabetes patients recruited at hospitals in Scania, Sweden as from 1996." . _:8dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://researchdata.se/en/catalogue/dataset/ext0074-1"; rdfs:comment "The Scania Diabetes Registry contains over 7000 diabetes patients recruited at hospitals in Scania, Sweden as from 1996." . _:8dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001459"; "Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls."; "PMID:31118516", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6699738/supplementaryFiles"; rdfs:comment "individuals drawn from three prospective cohorts: the Malmö Preventive Project, the Scania Diabetes Registry, and the Botnia Study" . _:8de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90061374"; "Genome-Wide Association Study of Peripheral Artery Disease."; "PMID:34601942" . _:8df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of patients with diabetes recruited through hospitals in Scania, Sweden, from 1996, with clinical follow-up and biological samples to classify diabetes subgroups and investigate genetic and biomarker predictors of complications."; "https://researchdata.se/en/catalogue/dataset/ext0074-1"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7400; "individuals with diabetes in the registry (catalogue metadata field)"; "https://researchdata.se/en/catalogue/dataset/ext0074-1"; rdfs:comment "Number of individuals/objects: 7400" . _:8e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1700; , , ; "EGAS00001000853"; "A cohort of patients with gallbladder carcinoma at Xinhua Hospital affiliated with Shanghai Jiao Tong University whose paired tumour and normal samples undergo sequencing to investigate somatic mutations and their clinical associations."; "The acronym Shanghai also denotes Shanghai CRC Study (COHO:0002708); this term is Shanghai Study."@en; 57; "Shanghai"; ; rdfs:label "Shanghai Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1700 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1700; "gallbladder carcinoma"; "https://metadata.ega-archive.org/studies/EGAS00001000853"; rdfs:comment "Patients with gallbladder carcinoma (GBC), the most aggressive malignancy of the biliary tract, have a poor prognosis. Here, we report our identification of somatic mutations of GBCs in 57 tumor-normal pairs by use of a combination of exome sequencing and ultra-deep sequencing of cancer-related genes." . _:8e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000853"; rdfs:comment "Whole exome sequencing for gallbladder cancer in Xinhua Hospital Affiliated to Shanghai Jiao Tong University" . _:8e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000853"; "Whole exome sequencing for gallbladder cancer in Xinhua Hospital Affiliated to Shanghai Jiao Tong University, School of Medicine" . _:8e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with gallbladder carcinoma at Xinhua Hospital affiliated with Shanghai Jiao Tong University whose paired tumour and normal samples undergo sequencing to investigate somatic mutations and their clinical associations."; "https://metadata.ega-archive.org/studies/EGAS00001000853"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 57; "gallbladder carcinoma patients with sequenced tumour-normal pairs (2014)"; "https://metadata.ega-archive.org/studies/EGAS00001000853"; rdfs:comment "Here, we report our identification of somatic mutations of GBCs in 57 tumor-normal pairs by use of a combination of exome sequencing and ultra-deep sequencing of cancer-related genes." . _:8e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shanghai"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1707; , , , , , , , ; "GCST007992", "PMID:29611518"; "A randomised trial cohort of adults with high-risk stage II or stage III colorectal cancer, recruited at 244 centres during 2008–2013 to compare three versus six months of adjuvant oxaliplatin-containing chemotherapy using disease-free survival as the primary outcome."; 6088; "SCOT"; ; rdfs:label "Short Course Oncology Treatment trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1707 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1707; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29611518+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The SCOT study was an international, randomised, phase 3, non-inferiority trial done at 244 centres. Patients aged 18 years or older with high-risk stage II and stage III colorectal cancer underwent central randomisation with minimisation for centre, choice of regimen, sex, disease site, N stage, T stage, and the starting dose of capecitabine." . _:8e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5883334/fullTextXML"; rdfs:comment "Patients were recruited from 244 centres in six countries (the UK, Denmark, Spain, Sweden, Australia, and New Zealand)" . _:8ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST007992"; "Association analyses identify 31 new risk loci for colorectal cancer susceptibility."; "PMID:31089142", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6517433/fullTextXML"; rdfs:comment "The SCOT GWAS comprised 3076 cases from the Short Course Oncology Treatment (SCOT) trial—a study of adjuvant chemotherapy in colorectal cancer by the CACTUS and OCTO groups44." . _:8eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29611518"; "3 versus 6 months of adjuvant oxaliplatin-fluoropyrimidine combination therapy for colorectal cancer (SCOT): an international, randomised, phase 3, non-inferiority trial."; "PMID:29611518", "https://europepmc.org/articles/PMC5883334"; rdfs:comment "The SCOT study was an international, randomised, phase 3, non-inferiority trial" . _:8ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of adults with high-risk stage II or stage III colorectal cancer, recruited at 244 centres during 2008–2013 to compare three versus six months of adjuvant oxaliplatin-containing chemotherapy using disease-free survival as the primary outcome."; "PMID:29611518"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6088; "patients randomised, March 2008 to November 2013"; "PMID:29611518"; rdfs:comment "6088 patients underwent randomisation between March 27, 2008, and Nov 29, 2013." . _:8ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1715; , , ; "EGAS00001005753", "GCST002639"; "A cohort of families recruited through 12 North American clinical sites, each with one child aged 4–18 with an autism spectrum disorder and unaffected biological parents, often including unaffected siblings, assembled to investigate rare and de novo genetic contributions to autism."; "SSC", "Simon Simplex Collection"; , ; rdfs:label "Simons Simplex Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1715 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1715; "autism spectrum disorders"; "https://www.sfari.org/funded-project/the-simons-simplex-collection/"; rdfs:comment "The Simons Simplex Collection (SSC) is a rigorously characterized set of data drawn from 2,700 families, designed to enrich the discovery of rare and de novo events in autism spectrum disorders." . _:8f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://doi.org/10.1371/journal.pone.0137725"; rdfs:comment "The simplex families were recruited through 12 university affiliated research clinics located in Canada and the United States." . _:8f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005753"; "Genome-wide Rare Variant Score Associates With Morphological Subtypes of Autism Spectrum Disorder"; "https://ega-archive.org/studies/EGAS00001005753"; rdfs:comment "442 ASD probands that had accompanying morphology data in the Simons Simplex Collection" . _:8f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002639"; "A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?"; "PMID:25534755", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25534755%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Genome-wide genotypic data of 2576 families from the Simons Simplex Collection were analyzed in the overall sample and phenotypic subgroups defined on the basis of diagnosis, IQ, and symptom profiles." . _:8f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of families recruited through 12 North American clinical sites, each with one child aged 4–18 with an autism spectrum disorder and unaffected biological parents, often including unaffected siblings, assembled to investigate rare and de novo genetic contributions to autism."; "https://www.sfari.org/funded-project/the-simons-simplex-collection/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1722; , , ; "GCST002340"; "A case-control collection of Singapore Chinese people aged at least 50 years with colorectal cancer and age- and sex-matched healthy controls, assembled to investigate genetic susceptibility to colorectal cancer."; 1000; 1000; 2000; "SCH"; ; rdfs:label "Singapore Chinese Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1722 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1722; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3411754/fullTextXML"; rdfs:comment "Mucosa specimens from 1,000 sporadic Chinese CRC patients (defined as age 50 or more at date of operation and without dominant family history of FAP and HNPCC) archived over the past ten years were selected as cases for the study." . _:8f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3411754/fullTextXML"; rdfs:comment "We performed genome-wide genotyping on 2,000 age- and gender-matched case-control series of Singapore Chinese (SCH) patients" . _:8f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002340"; "Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians."; "PMID:24448986", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4051826/unicode"; rdfs:comment "Singapore Chinese Study (SCH, n = 2,000)" . _:8f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Singapore Chinese people aged at least 50 years with colorectal cancer and age- and sex-matched healthy controls, assembled to investigate genetic susceptibility to colorectal cancer."; "PMID:22879968"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:8f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "age- and sex-matched cases and controls genotyped (1,000 cases, 1,000 controls), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3411754/fullTextXML"; rdfs:comment "Mucosa specimens from 1,000 sporadic Chinese CRC patients (defined as age 50 or more at date of operation and without dominant family history of FAP and HNPCC) archived over the past ten years were selected as cases for the study.Blood samples from 1,000 age- and gender-matched healthy donors from the Singapore Chinese Health Study (SCHS) (n = 931) [10] and the SGH Health Screening Unit (n = 69) constituted the controls of the study." . _:8fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "age- and sex-matched cases and controls genotyped (1,000 cases, 1,000 controls), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3411754/fullTextXML"; rdfs:comment "Mucosa specimens from 1,000 sporadic Chinese CRC patients (defined as age 50 or more at date of operation and without dominant family history of FAP and HNPCC) archived over the past ten years were selected as cases for the study.Blood samples from 1,000 age- and gender-matched healthy donors from the Singapore Chinese Health Study (SCHS) (n = 931) [10] and the SGH Health Screening Unit (n = 69) constituted the controls of the study." . _:8fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "age- and sex-matched cases and controls genotyped (1,000 cases, 1,000 controls), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3411754/fullTextXML"; rdfs:comment "Mucosa specimens from 1,000 sporadic Chinese CRC patients (defined as age 50 or more at date of operation and without dominant family history of FAP and HNPCC) archived over the past ten years were selected as cases for the study.Blood samples from 1,000 age- and gender-matched healthy donors from the Singapore Chinese Health Study (SCHS) (n = 931) [10] and the SGH Health Screening Unit (n = 69) constituted the controls of the study." . _:8fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1731; , , , , , , , , ; "EGAS00001002336", "GCST001750"; "A randomised trial cohort of patients with resected renal cell carcinoma at intermediate or high relapse risk, enrolled in the United Kingdom and six other countries in 2007–2013 to compare postoperative sorafenib with placebo for prevention of cancer recurrence."; 1711; , ; rdfs:label "SORCE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:8fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1731; "renal cell carcinoma"; "https://innovative-ctu.ucl.ac.uk/studies/all-studies/s/sorce/"; rdfs:comment "A multi-centre phase III double-blind placebo-controlled study designed to examine the efficacy and tolerability of sorafenib (Nexavar) in patients with resected (total or partial) primary renal cell carcinoma (RCC) at high or intermediate risk of relapse" . _:8fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://innovative-ctu.ucl.ac.uk/studies/all-studies/s/sorce/"; rdfs:comment "SORCE was active at 82 UK hospitals, and 48 hospitals internationally in Australia, Denmark, France, Belgium, The Netherlands and Spain" . _:8ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002336"; "Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer."; "PMID:23184150", "https://ega-archive.org/studies/EGAS00001002336"; rdfs:comment "856 cases from SORCE, a MRC collection of surgically treated RCC cases" . _:9002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001750"; "Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer."; "PMID:23184150", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3554205/"; rdfs:comment "The newly scanned cases comprised 856 cases ascertained through the TRANSORCE study of an ongoing collection of RCC cases ascertained as part of the Medical Research Council (MRC) SORCE trial through UK clinical oncology centres and 189 RCC cases collected through the Institute of Cancer Research and Royal Marsden NHS Hospitals Trust." . _:9012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of patients with resected renal cell carcinoma at intermediate or high relapse risk, enrolled in the United Kingdom and six other countries in 2007–2013 to compare postoperative sorafenib with placebo for prevention of cancer recurrence."; "https://innovative-ctu.ucl.ac.uk/studies/all-studies/s/sorce/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1711; "patients randomised, July 2007 to April 2013"; "https://innovative-ctu.ucl.ac.uk/studies/all-studies/s/sorce/"; rdfs:comment "1711 patients were randomised into the SORCE trial." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1738, _:genid-371333f489424440b12a13b9d98ced822608-genid1740, _:genid-371333f489424440b12a13b9d98ced822608-genid1742, _:genid-371333f489424440b12a13b9d98ced822608-genid1744; , ; "GCST009886"; "A cohort of university students followed longitudinally through surveys and DNA collection at Virginia Commonwealth University to investigate genetic and environmental contributions to alcohol use, other substance use and mental health."; "Spit for Science also names a Canadian children's cohort in the EGA; this term is the Virginia Commonwealth University student cohort."@en; 12358; "Spit"; ; rdfs:label "Spit for Science"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1738 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1740 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1742 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1744 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1738; "alcohol use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24639683+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe an effort to create a university-wide research project aimed at understanding how genes and environments impact alcohol use and related substance use and mental health outcomes across time in college students." . _:9042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1740; "related substance use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24639683+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe an effort to create a university-wide research project aimed at understanding how genes and environments impact alcohol use and related substance use and mental health outcomes across time in college students." . _:9052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1742; "substance use problems"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24639683+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe an effort to create a university-wide research project aimed at understanding how genes and environments impact alcohol use and related substance use and mental health outcomes across time in college students." . _:9062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1744; "emotional health problems"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24639683+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe an effort to create a university-wide research project aimed at understanding how genes and environments impact alcohol use and related substance use and mental health outcomes across time in college students." . _:9072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://news.vcu.edu/article/spit_for_science_project_continues_at_vcu"; rdfs:comment "Students at Virginia Commonwealth University will once again be asked to fill out a follow-up survey" . _:9082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST009886"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://europepmc.org/articles/PMC6430207"; rdfs:comment "Funding support for Spit for Science (dbGAP in progress) has been provided by Virginia Commonwealth University" . _:9092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of university students followed longitudinally through surveys and DNA collection at Virginia Commonwealth University to investigate genetic and environmental contributions to alcohol use, other substance use and mental health."; "PMID:24639683"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:90a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12358; "students enrolled across five entering cohorts (2011, 2012, 2013, 2014, 2017)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8856034/fullTextXML"; rdfs:comment "The project began in fall 2011, and new cohorts were recruited in 2012, 2013, 2014, and 2017 ( N = 12,358)." . _:90b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spit"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1751; , ; , ; "EGAS00001005860", "GCST90274758"; "A case-control collection of people with bipolar disorder identified through Swedish national registers and Stockholm clinical services, with unaffected controls, assembled to investigate genetic determinants of bipolar disorder and its clinical subtypes."; 8580; 8580; "STANLEY", "SWEBIC"; , ; rdfs:label "Sweden Bipolar Disorder Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1751 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:90c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1751; "bipolar disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12144026/"; rdfs:comment "Across the two waves, SWEBIC recruited 8580 individuals diagnosed with bipolar disorder, 89 percent from BipoläR." . _:90d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12144026/"; rdfs:comment "recruited participants from two primary sources: (1) the Swedish National Quality Register for bipolar disorder (BipoläR)" . _:90e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005860"; "Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia."; "PMID:35410376", "https://ega-archive.org/studies/EGAS00001005860"; rdfs:comment "In this project we sequenced and analyzed the whole exomes of 5340 SWEBIC Bipolar case samples from collaborators in Sweden." . _:90f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274758"; "Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets."; "PMID:37563310" . _:9102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with bipolar disorder identified through Swedish national registers and Stockholm clinical services, with unaffected controls, assembled to investigate genetic determinants of bipolar disorder and its clinical subtypes."; "PMID:28072414"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8580; "individuals with bipolar disorder recruited across two waves (2009-2013 and 2017-2022); controls not counted"; "PMID:40478381"; rdfs:comment "Across the two waves, SWEBIC recruited 8580 individuals diagnosed with bipolar disorder, 89 percent from BipoläR." . _:9122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8580; "individuals with bipolar disorder recruited across two waves (2009-2013 and 2017-2022); controls not counted"; "PMID:40478381"; rdfs:comment "Across the two waves, SWEBIC recruited 8580 individuals diagnosed with bipolar disorder, 89 percent from BipoläR." . _:9132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STANLEY"; . _:9142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWEBIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1761, _:genid-371333f489424440b12a13b9d98ced822608-genid1763; , , , , , , , ; , ; , , , , ; "EGAS50000000906", "GCST90102256", "MTBLS93"; "A registry of twins in Sweden, established in the late 1950s to investigate smoking and alcohol in relation to cancer and cardiovascular disease while accounting for genetic susceptibility, and subsequently expanded to study common complex diseases."; 160000; "STR"; , , ; rdfs:label "Swedish Twin Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1761 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1763 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1761; "alcohol consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12270000+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Swedish Twin Registry (STR), which today has developed into a unique resource, was first established in the late 1950s to study the importance of smoking and alcohol consumption on cancer and cardiovascular diseases whilst controlling for genetic propensity to disease." . _:9162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1763; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12270000+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Swedish Twin Registry (STR), which today has developed into a unique resource, was first established in the late 1950s to study the importance of smoking and alcohol consumption on cancer and cardiovascular diseases whilst controlling for genetic propensity to disease." . _:9172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ki.se/en/research/research-infrastructure-and-environments/core-facilities-for-research/the-swedish-twin-registry/information-for-twins"; rdfs:comment "all twin births that take place and are registered in Sweden" . _:9182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000906"; "SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population."; "PMID:28832569", "https://ega-archive.org/studies/EGAS50000000906"; rdfs:comment "This Study contains four datasets where the first one contains whole-genome sequencing data in CRAM-format for 942 individuals from the Swedish Twin Registry" . _:9192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102256"; "Risk of Revision After Arthroplasty Associated with Specific Gene Loci: A Genomewide Association Study of Single-Nucleotide Polymorphisms in 1,130 Twins Treated with Arthroplasty."; "PMID:34982741", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A34982741+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "a cohort of 1,130 twins from the Swedish Twin Registry" . _:91a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS93"; "Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease."; "PMID:25502724", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS93"; rdfs:comment "Large-scale non-targeted serum metabolomics in the Swedish Twin Registry" . _:91b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of twins in Sweden, established in the late 1950s to investigate smoking and alcohol in relation to cancer and cardiovascular disease while accounting for genetic susceptibility, and subsequently expanded to study common complex diseases."; "PMID:12270000"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:91c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 160000; "twins the registry currently holds data on (stated as 'more than 160,000'), 2026"; "PMID:42178973"; rdfs:comment "The registry currently holds data on more than 160,000 twins, with ongoing ascertainment at 9 months and 9 years with follow-ups at ages 15, 18, and 24." . _:91d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1772; , , ; ; "GCST002167", "PGS000770"; "A case-control collection of Han Chinese people residing in Taiwan, including patients with type 2 diabetes and population controls, assembled for genome-wide identification of diabetes-susceptibility variants."; 2798; 2367; "TDS", "TGWAS", "TWT2D", "Taiwan Genome Wide Association Study", "Taiwan Type 2 Diabetes Consortium"; , ; rdfs:label "Taiwan Type 2 Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1772 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:91e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1772; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2824763/fullTextXML"; rdfs:comment "A total of 2,798 unrelated individuals with T2D, age >20 years, were recruited from China Medical University Hospital (CMUH), Taichung, Taiwan; Chia-Yi Christian Hospital (CYCH), Chia-Yi, Taiwan; and National Taiwan University Hospital (NTU), Taipei, Taiwan." . _:91f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2824763/"; rdfs:comment "We conducted a two-stage GWAS to identify genetic variants for T2D in the Han-Chinese residing in Taiwan." . _:9202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002167"; "Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci."; "PMID:24001895", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3972802/unicode"; rdfs:comment "Taiwan Type 2 Diabetes Study" . _:9212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:9222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Han Chinese people residing in Taiwan, including patients with type 2 diabetes and population controls, assembled for genome-wide identification of diabetes-susceptibility variants."; "PMID:20174558"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2798; "type 2 diabetes cases and normal controls across the two GWAS stages (2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2824763/fullTextXML"; rdfs:comment "There were a total of 2,798 cases and 2,367 normal controls (995 cases and 894 controls in stage 1, 1,803 cases and 1,473 controls in stage 2)." . _:9242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2367; "type 2 diabetes cases and normal controls across the two GWAS stages (2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2824763/fullTextXML"; rdfs:comment "There were a total of 2,798 cases and 2,367 normal controls (995 cases and 894 controls in stage 1, 1,803 cases and 1,473 controls in stage 2)." . _:9252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TDS"; . _:9262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGWAS"; . _:9272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TWT2D"; . a owl:NamedIndividual, ; , ; ; "EGAS00001000996", "GCST002427"; "A cohort of healthy adolescents aged 13–15 attending public secondary schools in the Athens area of Attica, Greece, sampled for cross-sectional collection of anthropometric, medical, dietary and genetic data."; 857; "TEENAGE"; , ; rdfs:label "TEENs of Attica: Genes and Environment"@en . _:9282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3652032/fullTextXML"; rdfs:comment "attending public secondary schools located in the wider Athens area of Attica in Greece were recruited in the study" . _:9292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000996"; "Replication of established common genetic variants for adult BMI and childhood obesity in Greek adolescents: the TEENAGE study."; "PMID:23347264", "https://ega-archive.org/studies/EGAS00001000996"; rdfs:comment "TEENAGE (TEENs of Attica: Genes and Environment) study" . _:92a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002427"; "Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty."; "PMID:24770850", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4168307/"; rdfs:comment "Cohorts contributing to the female discovery analysis were the ALSPAC, 1958 British Birth Cohort (BC58-T1DGC and BC58-WTCCC), Cardiovascular Risk in YFS, Netherlands Twin Registry (NTR) and TEENAGE study." . _:92b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of healthy adolescents aged 13–15 attending public secondary schools in the Athens area of Attica, Greece, sampled for cross-sectional collection of anthropometric, medical, dietary and genetic data."; "https://metadata.ega-archive.org/studies/EGAS00001000996"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:92c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 857; "adolescent students recruited 2008-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3652032/fullTextXML"; rdfs:comment "A random sample of 857 adolescent students (Table S1) attending public secondary schools located in the wider Athens area of Attica in Greece were recruited in the study from 2008 to 2010." . _:92d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TEENAGE"; . a owl:NamedIndividual, ; , ; ; "EGAS00001001036", "GCST008513"; "A cohort of men and women aged 50 years or older living in England, established in 2002 and assessed every two years to investigate economic, social, psychological, cognitive and biological aspects of ageing."; "The acronym ELSA also denotes Estudo Longitudinal de Saúde do Adulto (COHO:0001320); this term is The English Longitudinal Study of Ageing."@en; 11391; "ELSA", "English Longitudinal Study of Ageing"; , ; rdfs:label "The English Longitudinal Study of Ageing"@en . _:92e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3900867/"; rdfs:comment "a representative cohort of men and women living in England aged ≥50 years" . _:92f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001036"; "English Longitudinal Study of Ageing Genome-wide genotyping using the Illumina HumanOmni2.5-8"; "https://ega-archive.org/studies/EGAS00001001036"; rdfs:comment "Genome Wide Association Study (GWAS) in the English Longitudinal Study of Ageing" . _:9302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST008513"; "Genetic Contributions to Health Literacy."; "PMID:31250787", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31250787%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Using 5783 English Longitudinal Study of Ageing (ELSA) participants (mean age = 65.49, SD = 9.55) who had genotyping data and had completed a health literacy test at wave 2 (2004-2005), we carried out a genome-wide association study (GWAS) of health literacy." . _:9312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men and women aged 50 years or older living in England, established in 2002 and assessed every two years to investigate economic, social, psychological, cognitive and biological aspects of ageing."; "PMID:23143611"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11391; "core members aged 50-100 at wave 1 (2002)"; "PMID:23143611"; rdfs:comment "The original sample consisted of 11 391 members ranging in age from 50 to 100 years." . _:9332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1795, _:genid-371333f489424440b12a13b9d98ced822608-genid1797, _:genid-371333f489424440b12a13b9d98ced822608-genid1799, _:genid-371333f489424440b12a13b9d98ced822608-genid1801; , ; ; "EGAS00001000124", "GCST90129632", "MTBLS616"; "A cohort of people from Cambridgeshire followed to investigate how genetic and lifestyle factors interact in the development of diabetes, obesity and related metabolic disorders."; 12435; "Fenland"; , , ; rdfs:label "The Fenland Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1795 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1797 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1799 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1801 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1795; "lifestyle factors"; "https://studies.epi.ims.cam.ac.uk/files/fenland-study/fenland2_pis-executive-function-v3-120219.pdf"; rdfs:comment "The Fenland study is designed to investigate the interaction between genetic and lifestyle factors in determining diabetes, obesity, and related metabolic disorders." . _:9352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1797; "diabetes"; "https://studies.epi.ims.cam.ac.uk/files/fenland-study/fenland2_pis-executive-function-v3-120219.pdf"; rdfs:comment "The Fenland study is designed to investigate the interaction between genetic and lifestyle factors in determining diabetes, obesity, and related metabolic disorders." . _:9362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1799; "related metabolic disorders"; "https://studies.epi.ims.cam.ac.uk/files/fenland-study/fenland2_pis-executive-function-v3-120219.pdf"; rdfs:comment "The Fenland study is designed to investigate the interaction between genetic and lifestyle factors in determining diabetes, obesity, and related metabolic disorders." . _:9372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1801; "obesity"; "https://studies.epi.ims.cam.ac.uk/files/fenland-study/fenland2_pis-executive-function-v3-120219.pdf"; rdfs:comment "The Fenland study is designed to investigate the interaction between genetic and lifestyle factors in determining diabetes, obesity, and related metabolic disorders." . _:9382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7315099/"; rdfs:comment "recruited 12,435 participants via general practices from 3 centers (Cambridge, Ely, Wisbech) in Cambridgeshire, United Kingdom" . _:9392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000124"; "Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription."; "PMID:32492392", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7267775/fullTextXML"; rdfs:comment "Targeted sequencing was performed in an additional unrelated 1,810 SCOOP cases and 2,647 controls from the Fenland cohort (stage 2)" . _:93a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129632"; "Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases."; "PMID:35446786", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9220927/fullTextXML"; rdfs:comment "the Fenland study" . _:93b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS616"; "Hepatic steatosis risk is partly driven by increased de novo lipogenesis following carbohydrate consumption."; "PMID:29925420", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS616"; rdfs:comment "We conducted direct infusion mass spectrometry of lipids in plasma to study the association between specific triacylglycerols (TAGs) and hepatic steatosis assessed by ultrasound and fatty liver index in volunteers from the UK-based Fenland Study (n=1507)" . _:93c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people from Cambridgeshire followed to investigate how genetic and lifestyle factors interact in the development of diabetes, obesity and related metabolic disorders."; "https://studies.epi.ims.cam.ac.uk/files/fenland-study/fenland2_pis-executive-function-v3-120219.pdf"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:93d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12435; "participants recruited at baseline (phase 1), 2005-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13049541/fullTextXML"; rdfs:comment "The Fenland Study recruited 12,435 participants born between 1950 and 1975, via general practices from 3 centres (Cambridge, Ely, and Wisbech) in Cambridgeshire, UK, between 2005 and 2015." . _:93e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fenland"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1810; , ; , ; "GCST90134661", "PGS000740"; "A German lung cancer case-control genome-wide association sample, combining cases from the LUng Cancer in the Young (LUCY) study of 2000-2008 and a Heidelberg case-control study of 1997-2007 with population controls from the KORA surveys of 1990-1998, contributed to the International Lung Cancer Consortium as its Germany study."; 506; 480; "GLC", "German Lung Cancer GWAS", "German Lung Cancer Study", "German lung cancer study", "Germany Lung Cancer study", "HGF", "HMGU"; , ; rdfs:label "The Helmholtz-Gemeinschaft Deutscher Forschungszentren"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1810 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:93f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1810; "lung cancer"; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "HGF-Study The HGF GWA study (center 1: Wichmann, Sauter, center 2: Bickeböller, Rosenberger, center 3: Risch, Chang-Claude) was made up of three independent German studies as detailed below: In total 506 incident lung cancer cases (LUCY-study: n=305, Heidelberg lung cancer case-control study: n=201) were compared to 480 popula-tion controls (KORA surveys KORA)." . _:9402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "LUCY (LUng Cancer in the Young) is an multicenter study with 31 recruiting hospitals in Germany." . _:9412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134661"; "Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer."; "PMID:35915169", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01115-x/MediaObjects/41588_2022_1115_MOESM1_ESM.pdf#text"; rdfs:comment "Helmholtz-Gemeinschaft Deutscher Forschungszentren Lung Cancer GWAS" . _:9422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:9432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German lung cancer case-control genome-wide association sample, combining cases from the LUng Cancer in the Young (LUCY) study of 2000-2008 and a Heidelberg case-control study of 1997-2007 with population controls from the KORA surveys of 1990-1998, contributed to the International Lung Cancer Consortium as its Germany study."; "PMID:25644374"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:9442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 506; "incident lung cancer cases and population controls of the German lung cancer GWAS"; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "In total 506 incident lung cancer cases (LUCY-study: n=305, Heidelberg lung cancer case-control study: n=201) were compared to 480 popula-tion controls (KORA surveys KORA)." . _:9452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 480; "incident lung cancer cases and population controls of the German lung cancer GWAS"; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "In total 506 incident lung cancer cases (LUCY-study: n=305, Heidelberg lung cancer case-control study: n=201) were compared to 480 popula-tion controls (KORA surveys KORA)." . _:9462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLC"; . _:9472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGF"; . _:9482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMGU"; . a owl:NamedIndividual, ; , ; , ; "EGAS00001001207", "GCST90010102"; "A cohort of people with at least one parent from the Mylopotamos area of Crete, Greece, recruited in Anogia and surrounding villages for the Minoan Isolates (MANOLIS) collection, which links genetic data with clinical, biochemical and lifestyle measurements to investigate medically relevant complex traits."; 1553; "HELIC-MANOLIS", "MANOLIS"; , ; rdfs:label "The MANOLIS cohort"@en . _:9492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10261406/"; rdfs:comment "adults from isolated Mylopotamos villages, Crete, Greece, the Hellenic Isolated Cohorts MANOLIS study" . _:94a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001207"; "Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits."; "PMID:30405126", "https://ega-archive.org/studies/EGAS00001001207"; rdfs:comment "15x whole genome sequencing in samples from the Cretan Greek isolate collection HELIC MANOLIS" . _:94b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90010102"; "Whole-genome sequencing analysis of the cardiometabolic proteome."; "PMID:33303764", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7729872/fullTextXML"; rdfs:comment "in a population-based cohort (MANOLIS)" . _:94c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with at least one parent from the Mylopotamos area of Crete, Greece, recruited in Anogia and surrounding villages for the Minoan Isolates (MANOLIS) collection, which links genetic data with clinical, biochemical and lifestyle measurements to investigate medically relevant complex traits."; "PMID:28548082"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:94d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1553; "adults recruited in the Mylopotamos villages"; "PMID:27989266"; rdfs:comment "Adults (n 1553)." . _:94e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIC-MANOLIS"; . _:94f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MANOLIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1828; , ; "GCST003877"; "A case-control collection of people with abdominal aortic aneurysm and controls in the Netherlands, assembled for genome-wide investigation of genetic susceptibility to abdominal aortic aneurysm."; 840; 2791; "Netherlands"; ; rdfs:label "The Netherlands AAA GWAS dataset"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1828 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1828; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253231/fullTextXML"; rdfs:comment "The individual GWAS data sets from Iceland and the Netherlands were adjusted for genomic inflation before inclusion in the meta-analysis." . _:9512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253231/fullTextXML"; rdfs:comment "The individual GWAS data sets from Iceland and the Netherlands were adjusted for genomic inflation" . _:9522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003877"; "Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci."; "PMID:27899403" . _:9532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of people with abdominal aortic aneurysm and controls in the Netherlands, assembled for genome-wide investigation of genetic susceptibility to abdominal aortic aneurysm."; "PMID:27899403"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 840; "AAA cases (Utrecht, 8 Dutch centres, 2007-2009) and Nijmegen controls in the Dutch GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4157066/"; rdfs:comment "We performed a GWAS using 452 Icelandic and 840 Dutch individuals with AAA, and 27,712 Icelandic and 2,791 Dutch controls, genotyped with the Illumina HumanHap370 or HumanHap610 SNP chips." . _:9552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2791; "AAA cases (Utrecht, 8 Dutch centres, 2007-2009) and Nijmegen controls in the Dutch GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4157066/"; rdfs:comment "We performed a GWAS using 452 Icelandic and 840 Dutch individuals with AAA, and 27,712 Icelandic and 2,791 Dutch controls, genotyped with the Illumina HumanHap370 or HumanHap610 SNP chips." . _:9562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Netherlands"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1836; , ; "GCST004483"; "A biobank of patients with multiple myeloma in Trondheim, Norway, providing biological material for genetic investigations of susceptibility to multiple myeloma."; 3000; "NBM"; ; rdfs:label "The Norwegian Biobank for Myeloma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1836 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1836; "multiple myeloma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4932178/fullTextXML"; rdfs:comment "The Swedish/Norwegian GWAS5 was based on 1,668 and 157 MM patients from the Swedish National Myeloma Biobank (Skåne University Hospital, Lund, Sweden) and the Norwegian Biobank for Myeloma (Trondheim, Norway), respectively." . _:9582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4932178/fullTextXML"; rdfs:comment "Norwegian Biobank for Myeloma (Trondheim, Norway)" . _:9592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004483"; "Genome-wide association study identifies multiple susceptibility loci for multiple myeloma."; "PMID:27363682", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=4932178"; rdfs:comment "the Norwegian Biobank for Myeloma (Trondheim, Norway)" . _:95a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of patients with multiple myeloma in Trondheim, Norway, providing biological material for genetic investigations of susceptibility to multiple myeloma."; "PMID:27363682"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:95b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "unique myeloma patient donors (approximate), 2026"; "https://web.archive.org/web/20260115145901/https://biobanknorge.no/norwegian-research-biobank-multiple-myeloma/patients"; rdfs:comment "This biobank represents one of the largest collections of samples from patients with Multiple Myeloma with approximately 3000 unique donors." . _:95c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1843; , , ; , , ; "EGAS00001001230", "GCST90060568", "MTBLS4461"; "A case-control collection of adults aged 30–80 in Pakistan with a first confirmed acute myocardial infarction and matched controls, assembled to investigate genetic, lifestyle and biochemical determinants of coronary heart disease in South Asia."; 16700; 18600; "PROMIS", "Pakistan Risk of Myocardial Infarction Study", "Pakistan Risk of Myocardial Infraction Study"; , , ; rdfs:label "The Pakistan Risk Of Myocardial Infarction Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1843 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:95d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1843; "acute myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19404752+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "By March 2009, PROMIS had recruited over 5,000 cases of first-ever confirmed acute myocardial infarction (MI) and over 5,000 matched controls aged 30-80 years." . _:95e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8431908/fullTextXML"; rdfs:comment "PROMIS participants were recruited from multiple centres in urban Pakistan" . _:95f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001230"; "Monocyte_expression_QTL_analysis_in_MI_patients_and_healthy_controls"; "https://ega-archive.org/studies/EGAS00001001230"; rdfs:comment "Based on a case-control design (PROMIS study) we recruited 100 MI patients and 100 non-disease controls for which we isolated RNA from monocytes" . _:9602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90060568"; "Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci."; "PMID:34503513", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=ext_id%3A34503513+AND+src%3Amed&format=json&resultType=core"; rdfs:comment "5662 hospital controls from the Pakistan Risk of Myocardial Infarction Study" . _:9612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS4461"; "An Unbiased Lipid Phenotyping Approach To Study the Genetic Determinants of Lipids and Their Association with Coronary Heart Disease Risk Factors."; "PMID:30887811", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS4461"; rdfs:comment "Intact lipid profiling by DIHRMS was performed on 5662 serum samples from healthy participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS)." . _:9622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of adults aged 30–80 in Pakistan with a first confirmed acute myocardial infarction and matched controls, assembled to investigate genetic, lifestyle and biochemical determinants of coronary heart disease in South Asia."; "PMID:19404752"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16700; "first-ever acute MI cases and controls in nine urban centres (approximate)"; "PMID:34503513"; rdfs:comment "Our primary analyses involved a subset of participants from the Pakistan Risk of Myocardial Infarction Study (PROMIS), a case-control study of first-ever acute myocardial infarction (MI) in nine urban centres in Pakistan consisting of approximately 16,700 cases and 18,600 controls." . _:9642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18600; "first-ever acute MI cases and controls in nine urban centres (approximate)"; "PMID:34503513"; rdfs:comment "Our primary analyses involved a subset of participants from the Pakistan Risk of Myocardial Infarction Study (PROMIS), a case-control study of first-ever acute myocardial infarction (MI) in nine urban centres in Pakistan consisting of approximately 16,700 cases and 18,600 controls." . _:9652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROMIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1853; , ; "GCST003276", "PGS002274"; "A cohort of adults aged 18–80 newly referred with atherosclerotic vascular disease or major atherosclerosis risk factors, recruited from September 1996 for prospective investigation of concomitant arterial disease and predictors of future cardiovascular events."; 14830; "SMART", "Second Manifestations of ARTerial disease", "The Secondary Manifestations of ARTerial disease study", "UCC-SMART", "UCC-SMART study", "Utrecht Cardiovascular Cohort - Second Manifestations of ARTerial disease"; , ; rdfs:label "Second Manifestations of ARTerial disease study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1853; "atherosclerotic vessel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10608355+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Second Manifestations of ARTerial disease (SMART) study is a single-centre prospective cohort study among patients, newly referred to the hospital with (1) clinically manifest atherosclerotic vessel disease, or (2) marked risk factors for atherosclerosis." . _:9672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3573227/"; rdfs:comment "631 cases of AAA and 6342 AAA free controls recruited from University Medical Center Utrecht, the Netherlands" . _:9682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003276"; "Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation."; "PMID:26390057", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=4719169"; rdfs:comment "Secondary Manifestations of Arterial Disease" . _:9692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002274"; "Genetic variants associated with low-density lipoprotein cholesterol and systolic blood pressure and the risk of recurrent cardiovascular disease in patients with established vascular disease."; "PMID:35317921" . _:96a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 18–80 newly referred with atherosclerotic vascular disease or major atherosclerosis risk factors, recruited from September 1996 for prospective investigation of concomitant arterial disease and predictors of future cardiovascular events."; "PMID:10608355"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:96b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14830; "patients included since September 1996 (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9944278/fullTextXML"; rdfs:comment "By May 2022, a total of 14 830 patients have been included ( figure 3 )." . _:96c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMART"; . _:96d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCC-SMART"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1862, _:genid-371333f489424440b12a13b9d98ced822608-genid1864; , ; ; "GCST001465", "PMID:38929788"; "A case-control collection of Greek individuals with angiographically confirmed coronary artery disease and individuals without coronary artery disease, used to investigate genetic susceptibility and evaluate polygenic risk prediction."; 1221; 1344; "HSIEA", "THISEAS", "The Hellenic study of Interactions between SNPs & Eating in Atherosclerosis"; ; rdfs:label "The Hellenic study of Interactions between Single nucleotide polymorphisms and Eating in Atherosclerosis Susceptibility"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1864 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:96e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1862; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38929788+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The sample under study comprised 924 Greek individuals (390 cases with CAD and 534 controls) from the THISEAS study." . _:96f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1864; "eating"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11204902/fullTextXML"; rdfs:comment "The study population was drawn from the THISEAS (The Hellenic Study of Interactions between Single Nucleotide Polymorphisms and Eating in Atherosclerosis Susceptibility) database, constituting a case-control cohort." . _:9702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/38929788"; rdfs:comment "The sample under study comprised 924 Greek individuals (390 cases with CAD and 534 controls) from the THISEAS study" . _:9712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001465"; "Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals."; "PMID:22479202", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3315470/fullTextXML"; rdfs:comment "Finally, these same SNPs, or their proxy SNPs (n = 2), were tested for association in the THISEAS cohort (n = 738), which had been genotyped using the Metabochip [55]." . _:9722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38929788"; "Evaluation of Polygenic Risk Scores for Prediction of Coronary Artery Disease in a Greek Case-Control Study."; "PMID:38929788", "https://europepmc.org/articles/PMC11204902"; rdfs:comment "THISEAS (The Hellenic Study of Interactions between Single Nucleotide Polymorphisms and Eating in Atherosclerosis Susceptibility)" . _:9732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Greek individuals with angiographically confirmed coronary artery disease and individuals without coronary artery disease, used to investigate genetic susceptibility and evaluate polygenic risk prediction."; "PMID:38929788"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1221; "consecutively enrolled adult CAD patients and adult controls"; "PMID:26223368"; rdfs:comment "We consecutively enrolled 1221 adult patients with coronary artery disease and 1344 adult controls." . _:9752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1344; "consecutively enrolled adult CAD patients and adult controls"; "PMID:26223368"; rdfs:comment "We consecutively enrolled 1221 adult patients with coronary artery disease and 1344 adult controls." . _:9762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSIEA"; . _:9772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THISEAS"; . _:9782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Hellenic study of Interactions between SNPs & Eating in Atherosclerosis"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1875; "GCST000635"; "A randomised trial cohort of patients with clinically evident stable coronary heart disease assigned to daily atorvastatin at 10 or 80 mg to compare cardiovascular outcomes under different intensities of lipid lowering."; "TNT also names a breast cancer trial in the EGA; this term is the Treating to New Targets statin trial."@en; 10001; "TNT"; ; rdfs:label "Treating to New Targets"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1875 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1875; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15755765+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 10,001 patients with clinically evident CHD and LDL cholesterol levels of less than 130 mg per deciliter (3.4 mmol per liter) were randomly assigned to double-blind therapy and received either 10 mg or 80 mg of atorvastatin per day." . _:97a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000635"; "Genome-wide association of lipid-lowering response to statins in combined study populations."; "PMID:20339536", "https://europepmc.org/articles/PMC2842298"; rdfs:comment "The Treating to New Targets (TNT) study followed 10,001 patients" . _:97b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of patients with clinically evident stable coronary heart disease assigned to daily atorvastatin at 10 or 80 mg to compare cardiovascular outcomes under different intensities of lipid lowering."; "PMID:15755765"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:97c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10001; "patients randomised to atorvastatin 10 or 80 mg"; "PMID:15755765"; rdfs:comment "A total of 10,001 patients with clinically evident CHD and LDL cholesterol levels of less than 130 mg per deciliter (3.4 mmol per liter) were randomly assigned to double-blind therapy and received either 10 mg or 80 mg of atorvastatin per day." . _:97d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNT"; . a owl:NamedIndividual, ; , ; "EGAS00001000116", "GCST90267552"; "A birth cohort of twins born in England and Wales in 1994–1996, recruited through national birth records and followed from infancy to investigate genetic and environmental influences on cognitive, emotional and behavioural development."; 16000; "TEDS"; , ; rdfs:label "Twins Early Development Study"@en . _:97e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7056571/"; rdfs:comment "recruited over 16,000 twin pairs born between 1994 and 1996 in England and Wales through national birth records" . _:97f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000116"; "UK10K NEURO ASD TEDS"; "https://ega-archive.org/studies/EGAS00001000116"; rdfs:comment "Twins Early Development Study" . _:9802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267552"; "Genome-wide association study of school grades identifies genetic overlap between language ability, psychopathology and creativity."; "PMID:36624241", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9829693/fullTextXML"; rdfs:comment "To replicate our findings, we analyzed 4547 genotyped individuals from the Twins Early Development Study (TEDS) cohort33 for whom General Certificate of Secondary Education (GCSE) school grades in English, math and science were available." . _:9812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of twins born in England and Wales in 1994–1996, recruited through national birth records and followed from infancy to investigate genetic and environmental influences on cognitive, emotional and behavioural development."; "PMID:31544730"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16000; "twin PAIRS recruited (not individuals); 'over 16,000'"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7056571/"; rdfs:comment "The Twins Early Development Study (TEDS) is a longitudinal twin study that recruited over 16,000 twin pairs born between 1994 and 1996 in England and Wales through national birth records." . _:9832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TEDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1887; , , , , ; "EGAS00000000038", "GCST90432064"; "A consortium of international type 1 diabetes family and case-control collections, organised through Asia-Pacific, European, North American and United Kingdom networks to identify genetic determinants of diabetes susceptibility and provide shared biological samples and data."; 13412; "T1DGC"; , ; rdfs:label "Type 1 Diabetes Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1887 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1887; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20603248+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Type 1 Diabetes Genetics Consortium (T1DGC) is an international project whose primary aims are to: (a) discover genes that modify type 1 diabetes risk; and (b) expand upon the existing genetic resources for type 1 diabetes research. The initial goal was to collect 2500 affected sibling pair (ASP) families worldwide." . _:9852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/20603248"; rdfs:comment "T1DGC was organized into four regional networks (Asia-Pacific, Europe, North America, and the United Kingdom)" . _:9862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000038"; "Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes."; "PMID:19430480", "https://ega-archive.org/studies/EGAS00000000038"; rdfs:comment "T1DGC genome-wide case-control association study for Type 1 Diabetes (T1D) using the 1958 British Birth Cohort as controls." . _:9872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432064"; "A multi-ancestry genome-wide association study in type 1 diabetes."; "PMID:38453145", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11102596/fullTextXML"; rdfs:comment "The Type 1 Diabetes Genetics Consortium" . _:9882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of international type 1 diabetes family and case-control collections, organised through Asia-Pacific, European, North American and United Kingdom networks to identify genetic determinants of diabetes susceptibility and provide shared biological samples and data."; "PMID:20603248"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13412; "subjects recruited by the T1DGC whose DNA the 2024 study used (families, cases, controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11102596/fullTextXML"; rdfs:comment "We obtained DNA samples from 13 412 subjects recruited by the T1DGC (Supplementary Table 1)." . _:98a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T1DGC"; . a owl:NamedIndividual, ; , ; , ; , , , ; "EGAS00001001763", "GCST002442"; "A registry of volunteer adult twins from across the United Kingdom, established in 1992, with repeated clinical assessments, questionnaires and molecular data to investigate genetic and environmental contributions to ageing and complex disease."; 14838; "TwinUK", "Twins UK", "TwinsUK", "TwinsUK Adult Twin Registry", "UK Adult Twin Registry", "UK Twin"; , ; rdfs:label "UK Adult Twin Register"@en . _:98b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3600616/"; rdfs:comment "a cohort of volunteer adult twins from all over the United Kingdom" . _:98c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001763"; "Time-dependent genetic effects on gene expression implicate aging processes."; "PMID:28302734", "https://ega-archive.org/studies/EGAS00001001763"; rdfs:comment "The dataset consists of 232 RNA-seq samples (whole blood) obtained from healthy female from the TwinsUK adult registry cohort." . _:98d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002442"; "An atlas of genetic influences on human blood metabolites."; "PMID:24816252", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4064254/fullTextXML"; rdfs:comment "5,002 TwinsUK individuals newly profiled in this study" . _:98e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of volunteer adult twins from across the United Kingdom, established in 1992, with repeated clinical assessments, questionnaires and molecular data to investigate genetic and environmental contributions to ageing and complex disease."; "PMID:22253318"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:98f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14838; "registered volunteer twins, including mixed, single and triplets (2019)"; "PMID:31526404"; rdfs:comment "The registry comprises over 14,000 volunteer twins (14,838 including mixed, single and triplets); it is predominantly female (82%) and middle-aged (mean age 59)." . _:9902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TwinsUK"; . a owl:NamedIndividual, ; , ; , ; , , , , , ; "EGAS50000000292", "GCST008370", "MTBLS284", "PXD065892"; "A cohort of adults aged 40–69 recruited across the United Kingdom in 2006–2010, with biological samples, extensive phenotyping and prospective health follow-up, established to investigate genetic and nongenetic determinants of diseases of middle and older age."; 500000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/UK%20Biobank"; "U.K. Biobank", "UK", "UK-Biobank", "UKB", "UKBB", "UKBB White British", "UKBiobank", "United Kingdom Biobank", "United Kingom Biobank"; , , , , , ; rdfs:label "UK Biobank"@en; rdfs:seeAlso , . _:9912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4380465/fullTextXML"; rdfs:comment "The 500,000 participants were assessed between 2006 and 2010 in 22 assessment centres throughout the UK" . _:9922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000292"; "Multiple Myeloma GWAS Meta-analysis"; "https://ega-archive.org/studies/EGAS50000000292"; rdfs:comment "Included are meta-analyses with and without the UK Biobank dataset" . _:9932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST008370"; "Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies."; "PMID:30104761", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30104761%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Through the analysis of UK Biobank data of 408,961 samples from white British participants with European ancestry for > 1,400 binary phenotypes, we show that SAIGE can efficiently analyze large sample data, controlling for unbalanced case-control ratios and sample relatedness." . _:9942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS284"; "Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism."; "PMID:33574263", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS284"; rdfs:comment "Use of whole-exome sequencing data in the UK Biobank allowed for linking genes to diseases that could plausibly be explained by the identified metabolites." . _:9952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD065892"; "Diagnostics of Autoimmune Hepatitis Enabled by Non-Invasive Clinical Proteomics."; "PMID:40671462", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12517118/fullTextXML"; rdfs:comment "Findings were validated using data from the United Kingdom Biobank (UKB)." . _:9962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 40–69 recruited across the United Kingdom in 2006–2010, with biological samples, extensive phenotyping and prospective health follow-up, established to investigate genetic and nongenetic determinants of diseases of middle and older age."; "PMID:25826379"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 500000; "participants recruited and assessed 2006-2010 (round figure)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4380465/fullTextXML"; rdfs:comment "Recruitment of 500,000 participants and the collection of an unprecedented wealth of baseline data and samples were completed in 2010." . _:9982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK"; . _:9992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKB"; . _:99a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBB"; . _:99b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBB White British"; . a owl:NamedIndividual, ; , , , ; "EGAS00001003065"; "A consortium of brain-tissue collections from neuropathologically normal donors in Edinburgh, United Kingdom, and the United States, combining genotypes and expression measurements across brain regions to investigate genetic regulation of brain gene expression."; 134; "UKBEC"; ; rdfs:label "UK Brain Expression Consortium"@en . _:99c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ukbec.wordpress.com/materials-methods/"; rdfs:comment "Edinburgh, UK (Millar et al. 2007), and the Sun Health Research Institute (SHRI) an affiliate of Sun Health Corporation, USA" . _:99d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003065"; "Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information."; "PMID:32098967", "https://europepmc.org/articles/PMC7042265"; rdfs:comment "which were part of the UK Brain Expression Consortium data set" . _:99e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of brain-tissue collections from neuropathologically normal donors in Edinburgh, United Kingdom, and the United States, combining genotypes and expression measurements across brain regions to investigate genetic regulation of brain gene expression."; "https://ukbec.wordpress.com/materials-methods/"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:99f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 134; "neuropathologically normal post-mortem brain donors (Edinburgh and Sun Health banks combined)"; "https://ukbec.wordpress.com/materials-methods/"; rdfs:comment "Central nervous system (CNS) tissues originating from 134 control individuals was collected by the Medical Research Council (MRC) Sudden Death Brain and Tissue Bank, Edinburgh, UK (Millar et al. 2007), and the Sun Health Research Institute (SHRI) an affiliate of Sun Health Corporation, USA (Beach et al. 2008)." . _:9a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBEC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1917, _:genid-371333f489424440b12a13b9d98ced822608-genid1919, _:genid-371333f489424440b12a13b9d98ced822608-genid1921, _:genid-371333f489424440b12a13b9d98ced822608-genid1923; , ; ; "EGAS00001003937", "GCST003798"; "A case-control collection of children with cancer and controls matched by sex, age and residence throughout England, Scotland and Wales during 1991–1998, assembled to investigate causes of childhood cancer using interviews, records, exposure measurements and biological samples."; 3838; 7629; "UKCCS"; , ; rdfs:label "UK Childhood Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1917 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1919 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1921 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1923 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1917; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10737392+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "An investigation into the possible causes of childhood cancer has been carried out throughout England, Scotland and Wales over the period 1991-1998. All children known to be suffering from one or other type of the disease over periods of 4-5 years have been included, and control children matched for sex, age and area of residence have been selected at random from population registers." . _:9a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1919; "electric and magnetic fields"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10737392+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Information about both groups of children (with and without cancer) has been obtained from parental questionnaires, general practitioners' and hospital records, and from measurement of the extent of exposure to radon gas, terrestrial gamma radiation, and electric and magnetic fields." . _:9a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1921; "terrestrial gamma radiation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10737392+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Information about both groups of children (with and without cancer) has been obtained from parental questionnaires, general practitioners' and hospital records, and from measurement of the extent of exposure to radon gas, terrestrial gamma radiation, and electric and magnetic fields." . _:9a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1923; "radon gas"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10737392+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Information about both groups of children (with and without cancer) has been obtained from parental questionnaires, general practitioners' and hospital records, and from measurement of the extent of exposure to radon gas, terrestrial gamma radiation, and electric and magnetic fields." . _:9a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2374433/"; rdfs:comment "An investigation into the possible causes of childhood cancer has been carried out throughout England, Scotland and Wales" . _:9a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003937"; "Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia."; "PMID:19684604", "https://ega-archive.org/studies/EGAS00001003937"; rdfs:comment "To identify genetic risk variants for childhood acute lymphoblastic leukaemia (cALL) a genome-wide association study (GWAS) was conducted on cases recruited through the UKCCS, UK MRC ALL 97(99) trial and NICR." . _:9a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003798"; "A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1."; "PMID:27694927", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=5336191"; rdfs:comment "459 white BCP-ALL cases from the UK Childhood Cancer Study" . _:9a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of children with cancer and controls matched by sex, age and residence throughout England, Scotland and Wales during 1991–1998, assembled to investigate causes of childhood cancer using interviews, records, exposure measurements and biological samples."; "PMID:10737392"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3838; "children with cancer and unaffected control children studied"; "PMID:10737392"; rdfs:comment "Altogether 3,838 children with cancer, including 1,736 with leukaemia, and 7,629 unaffected children have been studied." . _:9aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7629; "children with cancer and unaffected control children studied"; "PMID:10737392"; rdfs:comment "Altogether 3,838 children with cancer, including 1,736 with leukaemia, and 7,629 unaffected children have been studied." . _:9ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKCCS"; . a owl:NamedIndividual, ; , ; "EGAS00001001232", "GCST90243956"; "A cohort of household members across all four United Kingdom nations, interviewed annually in Understanding Society to investigate changes in education, employment, income, health, family life, behaviour and social circumstances."; "UKHLS", "Understanding Society", "Understanding Society: UK Household Longitudinal Study", "UnderstandingSociety"; , ; rdfs:label "UK Household Longitudinal Study"@en . _:9ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.gov.uk/government/publications/state-of-the-nation-2024-local-to-national-mapping-opportunities-for-all/technical-annex"; rdfs:comment "The UKHLS is a longitudinal survey of the members of approximately 40,000 households in the UK" . _:9ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001232"; "Understanding_Society_GWAS"; "https://ega-archive.org/studies/EGAS00001001232"; rdfs:comment "The UK Household Longitudinal Study" . _:9ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243956"; "Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling."; "PMID:35507331", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9539852/fullTextXML"; rdfs:comment "As controls, genotype data were available for 9,965 general population subjects from the UK Household Longitudinal Study (https://www.understandingsociety.ac.uk/), accessed through the European Genotype‐phenome Archive." . _:9af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of household members across all four United Kingdom nations, interviewed annually in Understanding Society to investigate changes in education, employment, income, health, family life, behaviour and social circumstances."; "https://www.understandingsociety.ac.uk/wp-content/uploads/working-papers/2023-06.pdf"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKHLS"; . _:9b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UnderstandingSociety"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1938, _:genid-371333f489424440b12a13b9d98ced822608-genid1940, _:genid-371333f489424440b12a13b9d98ced822608-genid1942; , ; "EGAS00001000924", "GCST004131"; "A consortium of inflammatory-bowel-disease patient collections across the United Kingdom combining genetic and clinical data to investigate susceptibility to Crohn's disease and ulcerative colitis and variation in treatment response."; 15000; "UKIBD Genetics Consortium", "UKIBDGC"; , ; rdfs:label "UK Inflammatory Bowel Disease Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1938 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1940 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1942 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1938; "Crohn's disease"; "https://www.crohnsandcolitis.org.uk/our-work/research-and-evidence/our-past-research-projects/using-genetics-to-discover-what-causes-ibd-and-why-people-react-in-different-ways-to-drugs"; rdfs:comment "With the support of Crohn’s and Colitis UK, the UK Inflammatory Bowel Disease Genetics Consortium has been at the front of this research – building a vast database of genetic and clinical data from patients across the UK." . _:9b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1940; "ulcerative colitis"; "https://www.crohnsandcolitis.org.uk/our-work/research-and-evidence/our-past-research-projects/using-genetics-to-discover-what-causes-ibd-and-why-people-react-in-different-ways-to-drugs"; rdfs:comment "With the support of Crohn’s and Colitis UK, the UK Inflammatory Bowel Disease Genetics Consortium has been at the front of this research – building a vast database of genetic and clinical data from patients across the UK." . _:9b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1942; "inflammatory bowel disease"; "https://www.crohnsandcolitis.org.uk/our-work/research-and-evidence/our-past-research-projects/using-genetics-to-discover-what-causes-ibd-and-why-people-react-in-different-ways-to-drugs"; rdfs:comment "With the support of Crohn’s and Colitis UK, the UK Inflammatory Bowel Disease Genetics Consortium has been at the front of this research – building a vast database of genetic and clinical data from patients across the UK." . _:9b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.crohnsandcolitis.org.uk/our-work/research-and-evidence/our-past-research-projects/using-genetics-to-discover-what-causes-ibd-and-why-people-react-in-different-ways-to-drugs"; rdfs:comment "building a vast database of genetic and clinical data from patients across the UK" . _:9b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000924"; "Genotyping_of_additional_Inflammatory_Bowel_Disease_cases___2014"; "https://ega-archive.org/studies/EGAS00001000924"; rdfs:comment "the UKIBDGC has GWAS data for around 1800 CD samples" . _:9b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004131"; "Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease."; "PMID:28067908", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5289481/fullTextXML"; rdfs:comment "We generated low-coverage whole genome sequences for 4,686 IBD cases and 3,781 population controls from the UK IBD Genetics Consortium (UKIBDGC) and UK10K Consortium, respectively." . _:9b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of inflammatory-bowel-disease patient collections across the United Kingdom combining genetic and clinical data to investigate susceptibility to Crohn's disease and ulcerative colitis and variation in treatment response."; "https://www.crohnsandcolitis.org.uk/our-work/research-and-evidence/our-past-research-projects/using-genetics-to-discover-what-causes-ibd-and-why-people-react-in-different-ways-to-drugs"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15000; "British CD and UC patients recruited to the consortium's studies ('nearly')"; "https://www.ibdresearch.co.uk/"; rdfs:comment "Together we have recruited nearly 15000 British patients with CD and UC to our studies." . _:9ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKIBD Genetics Consortium"; . _:9bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKIBDGC"; . a owl:NamedIndividual, ; , ; ; "EGAS00001003872", "GCST90436912"; "A cohort of people from the population isolate of Shetland, assembled to identify common and rare genetic variants influencing cardiovascular and other complex-disease risks."; 2105; "VIKING"; , ; rdfs:label "Viking Health Study"@en . _:9bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41598-019-47436-6"; rdfs:comment "Over 2,000 volunteers from the archipelago of Shetland were recruited to the Viking Health Study Shetland in 2013–2015." . _:9bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003872"; "VIKING Health Study - Shetland"; "https://ega-archive.org/studies/EGAS00001003872"; rdfs:comment "The Viking Health Study – Shetland" . _:9be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90436912"; "Efficient candidate drug target discovery through proteogenomics in a Scottish cohort."; "PMID:40883583", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12397405/fullTextXML"; rdfs:comment "The Viking Health Study—Shetland (hereafter VIKING1) is a geographically defined cohort with grandparents from the Shetland Isles, north of Scotland, which seeks to identify genetic factors influencing cardiovascular and other disease risk54." . _:9bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people from the population isolate of Shetland, assembled to identify common and rare genetic variants influencing cardiovascular and other complex-disease risks."; "https://metadata.ega-archive.org/studies/EGAS00001003872"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2105; "participants recruited 2013-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6901239/fullTextXML"; rdfs:comment "The 2105 participants were recruited between 2013 and 2015, 95% of them having at least three grandparents from Shetland." . _:9c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIKING"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid1957, _:genid-371333f489424440b12a13b9d98ced822608-genid1959, _:genid-371333f489424440b12a13b9d98ced822608-genid1961, _:genid-371333f489424440b12a13b9d98ced822608-genid1963, _:genid-371333f489424440b12a13b9d98ced822608-genid1965, _:genid-371333f489424440b12a13b9d98ced822608-genid1967, _:genid-371333f489424440b12a13b9d98ced822608-genid1969, _:genid-371333f489424440b12a13b9d98ced822608-genid1971, _:genid-371333f489424440b12a13b9d98ced822608-genid1973, _:genid-371333f489424440b12a13b9d98ced822608-genid1975, _:genid-371333f489424440b12a13b9d98ced822608-genid1977, _:genid-371333f489424440b12a13b9d98ced822608-genid1979, _:genid-371333f489424440b12a13b9d98ced822608-genid1981, _:genid-371333f489424440b12a13b9d98ced822608-genid1983; , , , , , , , , , , , , , , , , , ; , ; ; "EGAS00000000097", "GCST90204200"; "A consortium of disease-specific case collections and shared controls, coordinated by United Kingdom research groups to identify genetic variants associated with common diseases and evaluate methods for genome-wide association analysis."; 2938; 16179; "WTCCC", "Wellcome Trust Case-Control Consortium"; , ; rdfs:label "Wellcome Trust Case Control Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid1957 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1959 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1961 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1963 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1965 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1967 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1969 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1971 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1973 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1975 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1977 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1979 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1981 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid1983 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1957; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1959; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1961; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1963; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1965; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1967; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1969; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1971; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1973; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1975; "ankylosing spondylitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1977; "autoimmune thyroid disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1979; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1981; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid1983; "tuberculosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17554300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined approximately 2,000 individuals for each of 7 major diseases and a shared set of approximately 3,000 controls." . _:9d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4325090/unicode"; rdfs:comment "we established the Genetic Consortium for Anorexia Nervosa (GCAN) in 2007—a worldwide collaboration combining existing DNA samples of AN patients into a single resource. As part of the Wellcome Trust Case Control Consortium 3 (WTCCC3), we have conducted the largest GWAS for AN to date." . _:9d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5913637/fullTextXML"; rdfs:comment "As part of the WTCCC2 consortium, GoDARTS served as a discovery cohort for the GWAS of response to statins and metformin." . _:9d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "1958 British Birth Cohort (58C)" . _:9d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "UK Blood Services (UKBS) controls" . _:9d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "ankylosing spondylitis" . _:9d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "autoimmune thyroid disease" . _:9d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "bipolar disorder" . _:9d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "breast cancer" . _:9d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "coronary artery disease" . _:9d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "hypertension" . _:9da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "Crohn’s disease" . _:9db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "multiple sclerosis" . _:9dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "rheumatoid arthritis" . _:9dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "tuberculosis" . _:9de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "type 1 diabetes" . _:9df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "type 2 diabetes" . _:9e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4141707/"; rdfs:comment "The BMES protocol has been described in detail by Mitchell et al.32 Participants were genotyped with Human660W-Quad (Illumina) as part of the Wellcome Trust Case Control Consortium 2 (WTCCC2) at the Sanger Institute, Hinxton, United Kingdom." . _:9e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3299635/fullTextXML"; rdfs:comment "We used genome-wide association data generated by the Wellcome Trust Case-Control Consortium 2 (WTCCC2) from UK patients with Parkinson's disease and UK control individuals from the 1958 Birth Cohort and National Blood Service." . _:9e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719288/unicode"; rdfs:comment "Individuals included in the study were living within England, Scotland and Wales (‘Great Britain’)" . _:9e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000097"; "Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP"; "https://ega-archive.org/studies/EGAS00000000097"; rdfs:comment "6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen)" . _:9e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90204200"; "Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects."; "PMID:36470867", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9722930/fullTextXML"; rdfs:comment "Accordingly, for controls, we used genotype data obtained from (a) French and French-Canadian controls from McGill University (N = 871); (b) the HYPERGENES Project54 (N = 557 Italian samples); (c) the Wellcome Trust Case Control Consortium55 (N = 5516 British samples);" . _:9e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of disease-specific case collections and shared controls, coordinated by United Kingdom research groups to identify genetic variants associated with common diseases and evaluate methods for genome-wide association analysis."; "PMID:17554300"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2938; "cases of 7 diseases and shared controls retained after QC in the 2007 WTCCC1 GWAS"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "We excluded 809 samples after checks for contamination, false identity, non-Caucasian ancestry and relatedness (see Methods and Supplementary Table 4); 16,179 individuals remained in the study." . _:9e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16179; "cases of 7 diseases and shared controls retained after QC in the 2007 WTCCC1 GWAS"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "We excluded 809 samples after checks for contamination, false identity, non-Caucasian ancestry and relatedness (see Methods and Supplementary Table 4); 16,179 individuals remained in the study." . _:9e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WTCCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2010; , ; "PMID:37783704"; "A case-control collection of self-identified non-Hispanic White participants with colorectal cancer and comparison participants, contributing the Basque-colon validation sample for evaluation of polygenic prediction of colorectal cancer risk."; 873; 945; "BCC"; rdfs:label "Basquecolon cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2010 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2010; "colon cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "Basque-colon cohort included 873 participants with colon cancer, biobanked between 2009- 2019. Participants were diagnosed and/or treated according to usual clinical practice in the Donostia University Hospital, San Sebastian, Spain, including follow-up to this date." . _:9ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10545678/supplementaryFiles"; rdfs:comment "Basque-colon cohort included 873 participants with colon cancer, biobanked between 20092019. Participants were diagnosed and/or treated according to usual clinical practice in the Donostia University Hospital, San Sebastian, Spain" . _:9eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37783704"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704", "https://europepmc.org/articles/PMC10545678"; rdfs:comment "Basque-colon cohort (BCC)" . _:9ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of self-identified non-Hispanic White participants with colorectal cancer and comparison participants, contributing the Basque-colon validation sample for evaluation of polygenic prediction of colorectal cancer risk."; "PMID:37783704"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 873; "colon cancer cases biobanked 2009-2019 at Donostia University Hospital and blood-donor controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "Basque-colon cohort included 873 participants with colon cancer, biobanked between 2009- 2019. Participants were diagnosed and/or treated according to usual clinical practice in the Donostia University Hospital, San Sebastian, Spain, including follow-up to this date. Controls (n = 945) came from the blood donor biobank of the same geographical area." . _:9ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 945; "colon cancer cases biobanked 2009-2019 at Donostia University Hospital and blood-donor controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "Basque-colon cohort included 873 participants with colon cancer, biobanked between 2009- 2019. Participants were diagnosed and/or treated according to usual clinical practice in the Donostia University Hospital, San Sebastian, Spain, including follow-up to this date. Controls (n = 945) came from the blood donor biobank of the same geographical area." . _:9ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCC"; . a owl:NamedIndividual, ; , ; ; "EGAS00001002461", "GCST90243401", "MTBLS834"; "A randomised trial cohort of male and female whole-blood donors recruited during 2012–2014 at NHS Blood and Transplant centres in England to compare donation intervals and assess whether more frequent donation preserves donor health while increasing blood supply."; 45263; "INTERVAL"; , , ; rdfs:label "INTERVAL study"@en . _:9f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5714430/"; rdfs:comment "we recruited whole blood donors aged 18 years or older from 25 centres across England, UK" . _:9f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002461"; "Whole_Genome_Sequencing_of_INTERVAL"; "https://ega-archive.org/studies/EGAS00001002461"; rdfs:comment "15,000 individuals from the INTERVAL study cohort" . _:9f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243401"; "Genomic atlas of the human plasma proteome."; "PMID:29875488", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=6697541"; rdfs:comment "Here we characterize the genetic architecture of the human plasma proteome in healthy blood donors from the INTERVAL study." . _:9f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS834"; "Rare and common genetic determinants of metabolic individuality and their effects on human health."; "PMID:36357675", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS834"; rdfs:comment "Rare and common genetic determinants of metabolic individuality and their effects on human health (INTERVAL study assays)" . _:9f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of male and female whole-blood donors recruited during 2012–2014 at NHS Blood and Transplant centres in England to compare donation intervals and assess whether more frequent donation preserves donor health while increasing blood supply."; "PMID:25230735"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 45263; "whole blood donors recruited and randomised 2012-2014"; "PMID:28941948"; rdfs:comment "45 263 whole blood donors (22 466 men, 22 797 women) were recruited between June 11, 2012, and June 15, 2014." . _:9f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTERVAL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2025; , , ; "PMID:26176920"; "A case-control collection of Han Chinese women with recurrent major depression and controls recruited in China to investigate depression genetics through the China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) consortium."; "CONVERGE matches the verb in unrelated study titles; this term is the China, Oxford and VCU Experimental Research on Genetic Epidemiology consortium (Han Chinese women with major depression)."@en; 11670; "China, Oxford, and VCU Experimental Research on Genetic Epidemiology project"; rdfs:label "CONVERGE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2025 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:9f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2025; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26176920+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, using low-coverage whole-genome sequencing of 5,303 Chinese women with recurrent MDD selected to reduce phenotypic heterogeneity, and 5,337 controls screened to exclude MDD, we identified, and subsequently replicated in an independent sample, two loci contributing to risk of MDD on chromosome 10" . _:9f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4522619/fullTextXML"; rdfs:comment "from 58 provincial mental health centres and psychiatric departments of general medical hospitals in 45 cities and 23 provinces of China" . _:9f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26176920"; "Sparse whole-genome sequencing identifies two loci for major depressive disorder."; "PMID:26176920", "https://europepmc.org/articles/PMC4522619"; rdfs:comment "CONVERGE Consortium" . _:9fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Han Chinese women with recurrent major depression and controls recruited in China to investigate depression genetics through the China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) consortium."; "PMID:26176920"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:9fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11670; "Han Chinese women recruited (cases and controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4522619/fullTextXML"; rdfs:comment "The CONVERGE (China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology) consortium recruited 11,670 Han Chinese women through a collaboration involving 58 hospitals in China." . a owl:NamedIndividual, ; , , ; ; "GCST90104115"; "A cohort of Korean participants undergoing comprehensive health examinations at Seoul National University Hospital's Gangnam Center, with linked clinical and biobank data used to investigate genetic and environmental influences on phenotypes."; "The acronym GENIE also denotes AACR Project GENIE (COHO:0000209) and GEnetics of Nephropathy: an International Effort (COHO:0002753); this term is Gene-Environmental Interaction and phenotype study. The EGA study EGAS00001006707 tagged GENIE is the registry, not this cohort."@en; 10349; "GENIE", "Gene-Environment Interaction and Phenotype cohort", "Gene-Environment of Interaction and phenotype cohort", "Gene-environment interaction and phenotype"; rdfs:label "Gene-Environmental Interaction and phenotype study"@en . _:9fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8817039/fullTextXML"; rdfs:comment "we used data from the Gene-Environment of Interaction and phenotype (GENIE) cohort, and the Health and Prevention Enhancement (H-PEACE) cohort, at the Seoul National University Hospital Healthcare System Gangnam Center, where comprehensive health check-ups and screening are done in Korean populations" . _:9fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5914782/fullTextXML"; rdfs:comment "We prospectively collected blood samples from 17 455 of those individuals (9396 men and 8059 women) from October 2013 to form the Gene-environmental interaction and phenotype (GENIE) study, a subcohort of the H-PEACE study." . _:9fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104115"; "Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits."; "PMID:35121771", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8817039/fullTextXML"; rdfs:comment "we used data from the Gene-Environment of Interaction and phenotype (GENIE) cohort" . _:9ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Korean participants undergoing comprehensive health examinations at Seoul National University Hospital's Gangnam Center, with linked clinical and biobank data used to investigate genetic and environmental influences on phenotypes."; "PMID:35121771"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10349; "individuals genotyped at the time of the 2022 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8817039/fullTextXML"; rdfs:comment "At the time of this study, a total of 10,349 individuals had been genotyped using the Affymetrix Axiom KORV 1.0–96 Array (Thermo Fisher Scientific, Santa Clara, CA, USA) by DNA Link, Inc." . _:a012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENIE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2037; , , ; "GCST90239651"; "A case-control collection of Han Chinese people with coronary artery disease and controls in China, assembled for genome-wide identification of coronary-disease susceptibility variants."; 1010; 3998; 5008; "CAS"; ; rdfs:label "China Atherosclerosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2037 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2037; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "CAS consisted of 1,010 cases of CAD and 3,998 controls. 1,010 cases from the Northern provinces in China were enrolled from Fuwai Hospital, National Center of Cardiovascular Diseases. 83.8% of cases have a family history of CAD." . _:a032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239651"; "The power of genetic diversity in genome-wide association studies of lipids."; "PMID:34887591", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "the China Atherosclerosis Study" . _:a042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Han Chinese people with coronary artery disease and controls in China, assembled for genome-wide identification of coronary-disease susceptibility variants."; "PMID:22751097"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1010; "CAD cases and controls retained after QC in the discovery GWAS (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "After these quality control procedures, 5,008 samples and 613,724 autosomal SNPs were retained for subsequent analyses." . _:a062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3998; "CAD cases and controls retained after QC in the discovery GWAS (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "After these quality control procedures, 5,008 samples and 613,724 autosomal SNPs were retained for subsequent analyses." . _:a072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5008; "CAD cases and controls retained after QC in the discovery GWAS (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "After these quality control procedures, 5,008 samples and 613,724 autosomal SNPs were retained for subsequent analyses." . _:a082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2045; , ; "GCST002644", "MTBLS620", "PMID:19075291"; "A birth cohort of Finnish children screened from 1994 for HLA-associated type 1 diabetes susceptibility, with genetically at-risk children followed prospectively to investigate islet autoimmunity and diabetes development."; 104111; "DIPP"; , ; rdfs:label "Diabetes Prediction and Prevention"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2045 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2045; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6045612/fullTextXML"; rdfs:comment "The carriers of the genotype DQB1*02/DQB1*03:02 or DQB1*03:02/x genotypes (here x≠ DQB1*02, DQB1*03:01, DQB1*06:02, or DQB1*06:03 alleles) were categorized into the T1D risk group and recruited for the DIPP follow up program." . _:a0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2605239/fullTextXML"; rdfs:comment "In 1994, an ongoing birth cohort study (Type 1 Diabetes prediction and prevention study [DIPP]) was launched in Finland" . _:a0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002644"; "A novel common variant in DCST2 is associated with length in early life and height in adulthood."; "PMID:25281659", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4447786/fullTextXML"; rdfs:comment "We thank the participating DIPP families and the DIPP staff." . _:a0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS620"; "Dynamics of Plasma Lipidome in Progression to Islet Autoimmunity and Type 1 Diabetes - Type 1 Diabetes Prediction and Prevention Study (DIPP)."; "PMID:30006587", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS620"; rdfs:comment "The plasma samples for lipidome anlaysis have been obtained from the Finnish Type 1 Diabetes Prevention and Prediction Study (DIPP)." . _:a0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19075291"; "Dysregulation of lipid and amino acid metabolism precedes islet autoimmunity in children who later progress to type 1 diabetes."; "PMID:19075291", "https://europepmc.org/articles/PMC2605239"; rdfs:comment "Type 1 Diabetes prediction and prevention study [DIPP]" . _:a0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of Finnish children screened from 1994 for HLA-associated type 1 diabetes susceptibility, with genetically at-risk children followed prospectively to investigate islet autoimmunity and diabetes development."; "PMID:19075291"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 104111; "newborn infants screened for HLA risk by June 2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2605239/fullTextXML"; rdfs:comment "By June 6, 2006, 104,111 consecutive newborn infants had been screened, and 8,026 children with genetic risk continued in the follow up." . _:a102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2054; , ; ; "GCST011566", "MTBLS540"; "A cohort of patients undergoing coronary angiography at two hospitals in Lebanon, recruited in 2007–2010 for cross-sectional investigation of genetic and clinical factors associated with coronary artery disease."; 7710; "FGENTCARD"; , ; rdfs:label "Functional genomic diagnostic tools for coronary artery disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2054; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33766035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study investigated the association of clinical, demographic, and genetic factors with severe coronary artery stenosis phenotypes in our population composed of 1734 individuals with severe coronary stenosis (≥ 50% in coronary vessels) and comparing them to 757 controls with no evidence of stenosis on angiography." . _:a122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7993530/fullTextXML"; rdfs:comment "Patients were recruited at two major hospitals in Lebanon, between May 2007 and June 2010 as part of a multi-center cross-sectional study for the FGENTCARD Consortium" . _:a132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST011566"; "New susceptibility alleles associated with severe coronary artery stenosis in the Lebanese population."; "PMID:33766035", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=7993530"; rdfs:comment "as part of a multi-center cross-sectional study for the FGENTCARD Consortium" . _:a142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS540"; "J-Resolved 1H NMR 1D-Projections for Large-Scale Metabolic Phenotyping Studies: Application to Blood Plasma Analysis."; "PMID:28937204", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS540"; rdfs:comment "using 705 human plasma samples from the FGENTCARD cohort" . _:a152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients undergoing coronary angiography at two hospitals in Lebanon, recruited in 2007–2010 for cross-sectional investigation of genetic and clinical factors associated with coronary artery disease."; "PMID:33766035"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7710; "patients undergoing angiography recruited 2007-2010 (initial cohort)"; "https://europepmc.org/api/getPdf?pmcid=PMC7993530"; rdfs:comment "The initial cohort consists of 7710 individuals." . _:a172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FGENTCARD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2062; , ; ; "GCST90264176", "MTBLS798"; "A cohort of people under nephrological care across Germany with reduced kidney function or overt proteinuria, followed prospectively with clinical and biological measurements to investigate chronic kidney disease progression, complications and prognostic biomarkers."; 5217; "GCKD"; , ; rdfs:label "German Chronic Kidney Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2062 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2062; "chronic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21862458+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The German Chronic Kidney Disease (GCKD) study is a prospective observational national cohort study. It aims to enrol a total of 5000 patients with CKD of various aetiologies, who are under nephrological care, and to follow them for up to 10 years." . _:a192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.gckd.de/studienhintergrund/"; rdfs:comment "Mehr als 5000 Patienten wurden deutschlandweit zwischen 2010 und 2012 rekrutiert." . _:a1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90264176"; "Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine."; "PMID:37277652", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10260405/fullTextXML"; rdfs:comment "5,023 participants of the German Chronic Kidney Disease study" . _:a1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS798"; "A Novel Metabolic Signature To Predict the Requirement of Dialysis or Renal Transplantation in Patients with Chronic Kidney Disease."; "PMID:30817158", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS798"; rdfs:comment "Our study cohort comprised 4640 participants from the German Chronic Kidney Disease (GCKD) study" . _:a1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people under nephrological care across Germany with reduced kidney function or overt proteinuria, followed prospectively with clinical and biological measurements to investigate chronic kidney disease progression, complications and prognostic biomarkers."; "PMID:21862458"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5217; "adults with CKD enrolled 2010-2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10260405/fullTextXML"; rdfs:comment "The GCKD study is an ongoing prospective observational study that enrolled 5,217 adult persons with CKD between 2010 and 2012." . _:a1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCKD"; . a owl:NamedIndividual, ; , ; "GCST002404", "PMID:40232348"; "A case-control collection of German long-lived individuals aged at least 94 years and younger comparison participants, used to investigate genetic contributions to exceptional longevity and reduced susceptibility to age-related diseases."; 1351; 4680; "GLS"; ; rdfs:label "German Longevity Study"@en . _:a1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9504529/"; rdfs:comment "recruited as part of the FoCus cohort [41] and as blood donors at the University Hospital Schleswig-Holstein in Kiel and Lübeck, Germany" . _:a202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002404"; "Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age."; "PMID:24688116", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4103672/fullTextXML"; rdfs:comment "Some cohorts only provided controls (GOYA, NTR, SU.VI.MAX, TwinsUK and WTCCC2) or only cases (BELFAST, CEPH centenarian cohort, Danish longevity study I/II, Leiden 85-plus Study I/II and Newcastle 85+ Study), whereas others contained both (Calabria cohort, deCODE, EGCUT, GEHA Study, German longevity study, Leiden Longevity Study, Rotterdam Study I/II and TwinGene)." . _:a212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40232348"; "German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway."; "PMID:40232348", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=12181166"; rdfs:comment "German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway" . _:a222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of German long-lived individuals aged at least 94 years and younger comparison participants, used to investigate genetic contributions to exceptional longevity and reduced susceptibility to age-related diseases."; "PMID:36142858"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1351; "long-lived individuals (cases) and younger controls in the 2022 GSA-genotyped sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9504529/fullTextXML"; rdfs:comment "The examined sample comprised 1351 German LLI (≥94 years, including 643 centenarians) and 4680 German younger controls." . _:a242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4680; "long-lived individuals (cases) and younger controls in the 2022 GSA-genotyped sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9504529/fullTextXML"; rdfs:comment "The examined sample comprised 1351 German LLI (≥94 years, including 643 centenarians) and 4680 German younger controls." . _:a252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2077; , , , , , ; "PMID:20231156"; "A registry of patients hospitalised with acute coronary syndromes at centres across multiple countries, followed prospectively during admission and after discharge to compare treatment practices, clinical characteristics and outcomes and improve care."; "The acronym GRACE also denotes Genetic Risk Assessment for Chinese Eaglet-T1D (COHO:0000462); this term is Global Registry of Acute Coronary Events."@en; 70395; "GRACE", "GRACE_Genetics"; rdfs:label "Global Registry of Acute Coronary Events"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2077 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2077; "acute coronary syndromes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11174331+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GRACE (the Global Registry of Acute Coronary Events) is a large, prospective, multinational observational study of patients hospitalized with ACS." . _:a272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/11174331"; rdfs:comment "A total of 18 cluster sites in 14 countries in North America, South America, Europe, Australia, and New Zealand are currently collaborating in GRACE" . _:a282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20231156"; "A variant at chromosome 9p21 is associated with recurrent myocardial infarction and cardiac death after acute coronary syndrome: the GRACE Genetics Study."; "PMID:20231156", "https://europepmc.org/article/MED/20231156"; rdfs:comment "patients with ACS enrolled in the Global Registry of Acute Coronary Events (GRACE)" . _:a292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of patients hospitalised with acute coronary syndromes at centres across multiple countries, followed prospectively during admission and after discharge to compare treatment practices, clinical characteristics and outcomes and improve care."; "PMID:11174331"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 70395; "patients with suspected ACS enrolled 1999-2007"; "PMID:25554379"; rdfs:comment "Between 1999 and 2007, 70,395 patients with a suspected acute coronary syndrome were enrolled." . _:a2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRACE"; . _:a2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRACE_Genetics"; . a owl:NamedIndividual, ; , ; ; ; "GCST90020053", "MTBLS93"; "A cohort of twins from the Swedish Twin Registry undergoing health examinations and venous blood collection in 2004–2008, providing genetic and health data for investigations of ageing, metabolic health and mortality."; 12648; "TwinGene", "TwinGene Registry"; , ; rdfs:label "TwinGene Study"@en . _:a2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.716364/full"; rdfs:comment "STR—Twingene | Sweden" . _:a2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12062381/fullTextXML"; rdfs:comment "A total of 4891 unrelated individuals from the Swedish Twin Registry (Twingene) were used as population controls" . _:a2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90020053"; "A genome-wide association study of the frailty index highlights brain pathways in ageing."; "PMID:34431594", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8441299/fullTextXML"; rdfs:comment "The TwinGene study was approved by the Regional Ethics Review Board, Stockholm" . _:a302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS93"; "Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease."; "PMID:25502724", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS93"; rdfs:comment "Metabolomics was performed in a subsample of TwinGene." . _:a312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of twins from the Swedish Twin Registry undergoing health examinations and venous blood collection in 2004–2008, providing genetic and health data for investigations of ageing, metabolic health and mortality."; "PMID:35410261"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12648; "twins who gave blood samples 2004-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10410014/fullTextXML"; rdfs:comment "TwinGene is a subcohort study within the Swedish Twin Registry, which collected blood sample from 12,648 older Swedish twins in 2004–2008" . _:a332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TwinGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2092; , ; , , ; "GCST90728697", "MTBLS124"; "A cohort of men aged about 50 years in Uppsala, Sweden, examined during 1970–1974 and followed prospectively to investigate cardiovascular and lifestyle risk factors, survival and functional independence in old age."; 2322; "ULSAM"; , ; rdfs:label "Uppsala Longitudinal Study of Adult Men"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2092 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2092; "cardiovascular disease"; "https://www.uu.se/en/research/ulsam"; rdfs:comment "ULSAM started as a health investigation, focused at identifying metabolic risk factors for cardiovascular disease, to which all 50 year-old men living in Uppsala in 1970 were invited." . _:a352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.uu.se/en/research/ulsam"; rdfs:comment "based on all available men, born between 1920 and 1924 and living in Uppsala County, Sweden" . _:a362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90728697"; "Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes."; "PMID:40038546" . _:a372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS124"; "Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease."; "PMID:25502724", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS124"; rdfs:comment "Large-scale non-targeted plasma metabolomics in the Uppsala Longitudinal Study of Adult Men" . _:a382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men aged about 50 years in Uppsala, Sweden, examined during 1970–1974 and followed prospectively to investigate cardiovascular and lifestyle risk factors, survival and functional independence in old age."; "PMID:25919442"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2322; "men aged 50 examined at baseline 1970-1974"; "PMID:34518286"; rdfs:comment "In the Uppsala Longitudinal Study of Adult Men study, 2322 men, all aged 50 years, were assessed for CVD risk factors and then followed for four decades regarding incident CVDs." . _:a3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ULSAM"; . a owl:NamedIndividual, ; , ; ; "GCST90624144", "PXD016039"; "A cohort of volunteers participating in the United States National Institute on Aging's longitudinal programme, established in 1958 to investigate individual variation in human ageing and distinguish ageing-related changes from disease processes."; 3200; "BLSA", "Baltimore Longitudinal Study of Aging"; , ; rdfs:label "Baltimore Longitudinal Study of Ageing"@en . _:a3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2646088/"; rdfs:comment "volunteers continually recruited since 1958, primarily from the Baltimore-Washington, DC, area" . _:a3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624144"; "Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease."; "PMID:40111762", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC12295682/unicode"; rdfs:comment "the Baltimore Longitudinal Study of Aging" . _:a3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD016039"; "Age-associated changes in human CD4+ T cells point to mitochondrial dysfunction consequent to impaired autophagy."; "PMID:31707363", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD016039"; rdfs:comment "we examined CD4+ T cells obtained from younger (20-39 years-old) and older (70+ years-old) healthy participants of the Baltimore Longitudinal Study on Aging (BLSA)." . _:a3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of volunteers participating in the United States National Institute on Aging's longitudinal programme, established in 1958 to investigate individual variation in human ageing and distinguish ageing-related changes from disease processes."; "https://www.nia.nih.gov/research/labs/blsa/about"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3200; "volunteers since 1958 (stated as 'more than 3,200', a lower bound), 2018"; "https://www.nia.nih.gov/research/labs/blsa/about"; rdfs:comment "This is thanks to its more than 3,200 volunteers who made the lifelong commitment to be part of the research." . _:a402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2106; , ; "GCST000820"; "A biobank of adults diagnosed with amyotrophic lateral sclerosis at United Kingdom hospitals, collecting whole-blood DNA from 2004 for genetic research into motor neuron disease."; 1085; 3159; "MND DNA bank", "MNDA", "UK MND DNA Bank", "UK MND DNA bank", "UK National DNA Bank for Motor Neuron Disease Research", "UK National MND DNA", "UK National MND DNA bank", "UKMND"; ; rdfs:label "Motor Neuron Disease Biobank study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2106 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2106; "amyotrophic lateral sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3257853/fullTextXML"; rdfs:comment "Adults attending one of 20 UK hospitals and who had been diagnosed with ALS by two consultant neurologists were invited to participate in the UK National DNA Bank for Motor Neuron Disease Research (MND DNA bank), a national collection of ALS DNA samples derived from whole blood." . _:a422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/20801717"; rdfs:comment "We collected samples from patients with sporadic ALS from 20 UK hospitals" . _:a432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000820"; "Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study."; "PMID:20801717", "https://europepmc.org/articles/PMC3257853"; rdfs:comment "UK National DNA Bank for Motor Neuron Disease Research ( MND DNA bank )" . _:a442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of adults diagnosed with amyotrophic lateral sclerosis at United Kingdom hospitals, collecting whole-blood DNA from 2004 for genetic research into motor neuron disease."; "PMID:20801717"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1085; "DNA samples in the bank at end of collection (patients, family members and controls), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4501191/fullTextXML"; rdfs:comment "In October 2012, at the end of the collection period, the UK MND DNA Bank comprised 3159 high quality DNA samples." . _:a462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3159; "DNA samples in the bank at end of collection (patients, family members and controls), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4501191/fullTextXML"; rdfs:comment "In October 2012, at the end of the collection period, the UK MND DNA Bank comprised 3159 high quality DNA samples." . _:a472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MNDA"; . _:a482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKMND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2115; , , ; ; "GCST90482719"; "A cohort of adults with type 2 diabetes recruited from public polyclinics and hospital outpatient clinics in Singapore in 2004–2010, followed to investigate genetic, physiological and lifestyle determinants of diabetic complications."; "The acronym SDC also denotes Steno Diabetes Center T2D Cases (COHO:0001232); this term is Singapore Diabetic Cohort Study."@en; 14033; "DC", "Diabetic Cohort", "SDC", "SDCS", "Singapore Diabetes Cohort Study", "Singapore diabetic cohort study"; ; rdfs:label "Singapore Diabetic Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2115 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2115; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32474429+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The diabetic cohort (DC) was set up to study the determinants of complications in individuals with type 2 diabetes and examine the role of genetic, physiological and lifestyle factors in the development of complications in these individuals." . _:a4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/32474429"; rdfs:comment "A total of 14 033 adult participants with type 2 diabetes were recruited from multiple public sector polyclinics and hospital outpatient clinics in Singapore" . _:a4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90482719"; "Metabolomics profiling in multi-ancestral individuals with type 2 diabetes in Singapore identified metabolites associated with renal function decline."; "PMID:39621102" . _:a4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults with type 2 diabetes recruited from public polyclinics and hospital outpatient clinics in Singapore in 2004–2010, followed to investigate genetic, physiological and lifestyle determinants of diabetic complications."; "PMID:32474429"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14033; "adults with type 2 diabetes recruited 2004-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32474429+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 14 033 adult participants with type 2 diabetes were recruited from multiple public sector polyclinics and hospital outpatient clinics in Singapore between November 2004 and November 2010." . _:a4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DC"; . _:a4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDC"; . _:a502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2124; , ; "GCST90267567", "PXD039023"; "A cohort of adults without diabetes aged 40–69 at baseline in Ely, England, followed from 1990 with clinical, anthropometric and biochemical assessments to investigate type 2 diabetes incidence and its relationship to impaired fasting glucose."; 1040; "Ely"; , ; rdfs:label "Ely Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2124 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2124; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10348471/fullTextXML"; rdfs:comment "The Ely study, established in 1990, is a prospective study of the etiology of type 2 diabetes, as described in detail elsewhere (18, 19)." . _:a522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pubmed.ncbi.nlm.nih.gov/20576086/"; rdfs:comment "We recruited from a population-based cohort in Cambridgeshire, UK, (Medical Research Council Ely Study)" . _:a532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267567"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194" . _:a542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD039023"; "The Impact of Acute Nutritional Interventions on the Plasma Proteome."; "PMID:36658456", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD039023"; rdfs:comment "The Ely study comprises individuals of European ancestry aged 50–79 years, registered at a single medical practice in Ely, Cambridgeshire, UK and evaluated in three phases. All participants of the Ely study gave their written informed consent and the study was approved by the local ethics committee. Two hundred participants from Ely phase 3 with complete fasting and OGTT sample availability were selected for measurement (105 women / 95 men)." . _:a552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults without diabetes aged 40–69 at baseline in Ely, England, followed from 1990 with clinical, anthropometric and biochemical assessments to investigate type 2 diabetes incidence and its relationship to impaired fasting glucose."; "PMID:17257284"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1040; "non-diabetic adults aged 40-69 at baseline analysed for 1990-2000 incidence (analysed subset)"; "PMID:17257284"; rdfs:comment "Population-based longitudinal study (1990-2000) with clinical, anthropometric and biochemical measurements, including an oral glucose tolerance test (OGTT), in 1040 non-diabetic adults aged 40-69 years at baseline." . _:a572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ely"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2132, _:genid-371333f489424440b12a13b9d98ced822608-genid2134; , ; "GCST90091010"; "A case-control collection of children and adolescents aged 9–19 with asthma and without asthma, recruited in two communities of Lima, Peru, in 2011–2014 to investigate genetic and environmental determinants of asthma, immunoglobulin E and lung function."; 1177; "GASP"; ; rdfs:label "Genetic Asthma Susceptibility to Indoor Pollution in Peru"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2132 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2134 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2132; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33713768+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 436 Peruvian children (aged 9-19 years) with asthma and 291 without asthma were genotyped by using the Illumina Multi-Ethnic Global Array." . _:a592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2134; "indoor pollution"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8429514/unicode"; rdfs:comment "We do so by determining the global estimates of ancestry for children with and without asthma from the Genetic Asthma Susceptibility to Indoor Pollution in Peru (GASP study), and evaluating if these global ancestry estimates are associated with asthma status, lung function and total serum IgE levels (IgE)." . _:a5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8429514/unicode"; rdfs:comment "the GASP study which evaluates the association between genetics, environment and asthma status among children and adolescents residing in Peru." . _:a5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091010"; "Genome-wide association study of asthma, total IgE, and lung function in a cohort of Peruvian children."; "PMID:33713768", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&id=8429514"; rdfs:comment "Genetic Asthma Susceptibility to Indoor Pollution in Peru (GASP study)" . _:a5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of children and adolescents aged 9–19 with asthma and without asthma, recruited in two communities of Lima, Peru, in 2011–2014 to investigate genetic and environmental determinants of asthma, immunoglobulin E and lung function."; "PMID:33713768"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1177; "children aged 9-19 enrolled in the case-control study (with and without asthma), 2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5457560/fullTextXML"; rdfs:comment "Of 1177 children enrolled, 884 (413 with asthma, 471 without asthma) had serum available for analysis of 25(OH)D levels." . _:a5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GASP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2141; , , , , , , , , , , , , , , ; "GCST90270130", "PXD060089"; "A cohort of untreated patients with early Parkinson disease, healthy controls and people without imaging evidence of dopaminergic deficit, enrolled internationally at 24 sites for standardised longitudinal investigation of clinical, imaging, genetic and biospecimen markers of disease progression."; 423; 196; "PPMI"; , ; rdfs:label "Parkinson's Progression Markers Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2141 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2141; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30564614+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Parkinson's Progression Markers Initiative (PPMI) is an observational, international study designed to establish biomarker-defined cohorts and identify clinical, imaging, genetic, and biospecimen Parkinson's disease (PD) progression markers to accelerate disease-modifying therapeutic trials." . _:a602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.sciencedirect.com/science/article/pii/S1474442223001096"; rdfs:comment "Austria, Canada, France, Germany, Greece, Israel, Italy, the Netherlands, Norway, Spain, the UK, and the USA" . _:a612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270130"; "GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease."; "PMID:36370000", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10151180/fullTextXML"; rdfs:comment "Parkinson’s Progression Markers Initiative" . _:a622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD060089"; "Proteomic Analysis of Skin Punch Biopsies from a Parkinson's Disease Patient Cohort: A PPMI Pilot Study"; "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD060089"; rdfs:comment "The biospecimens were obtained from the Parkinson’s Progression Marker Initiative (PPMI) (RRID:SCR_006431)." . _:a632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of untreated patients with early Parkinson disease, healthy controls and people without imaging evidence of dopaminergic deficit, enrolled internationally at 24 sites for standardised longitudinal investigation of clinical, imaging, genetic and biospecimen markers of disease progression."; "PMID:30564614"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 423; "untreated PD (cases) and healthy controls enrolled in the original de novo cohort; plus 64 SWEDD (2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30564614+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 423 untreated PD, 196 Healthy Control (HC) and 64 SWEDD (scans without evidence of dopaminergic deficit) subjects were enrolled at 24 sites." . _:a652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 196; "untreated PD (cases) and healthy controls enrolled in the original de novo cohort; plus 64 SWEDD (2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30564614+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 423 untreated PD, 196 Healthy Control (HC) and 64 SWEDD (scans without evidence of dopaminergic deficit) subjects were enrolled at 24 sites." . _:a662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPMI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2150, _:genid-371333f489424440b12a13b9d98ced822608-genid2152, _:genid-371333f489424440b12a13b9d98ced822608-genid2154, _:genid-371333f489424440b12a13b9d98ced822608-genid2156; , , , , , , ; "GCST002149"; "A consortium of psychosis case, unaffected-relative and control collections from Australia, Germany, the Netherlands, Spain and the United Kingdom that combines genetic data to investigate susceptibility across psychotic disorders, including schizophrenia and bipolar disorder."; 1820; 3891; 6935; "PEC"; ; rdfs:label "Psychosis Endophenotype Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2150 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2152 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2154 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2156 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2150; "psychotic bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23871474+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "1239 cases with schizophrenia, schizoaffective disorder, or psychotic bipolar disorder; 857 of their unaffected relatives, and 2739 healthy controls were genotyped with the Affymetrix 6.0 single nucleotide polymorphism (SNP) array." . _:a682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2152; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23871474+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "1239 cases with schizophrenia, schizoaffective disorder, or psychotic bipolar disorder; 857 of their unaffected relatives, and 2739 healthy controls were genotyped with the Affymetrix 6.0 single nucleotide polymorphism (SNP) array." . _:a692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2154; "psychosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23871474+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "1239 cases with schizophrenia, schizoaffective disorder, or psychotic bipolar disorder; 857 of their unaffected relatives, and 2739 healthy controls were genotyped with the Affymetrix 6.0 single nucleotide polymorphism (SNP) array." . _:a6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2156; "schizoaffective disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23871474+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "1239 cases with schizophrenia, schizoaffective disorder, or psychotic bipolar disorder; 857 of their unaffected relatives, and 2739 healthy controls were genotyped with the Affymetrix 6.0 single nucleotide polymorphism (SNP) array." . _:a6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3923972/fullTextXML"; rdfs:comment "These samples were collected through seven centers across Australia and Europe (Germany, Holland, Spain, and United Kingdom)" . _:a6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002149"; "Genome-wide association analysis identifies 13 new risk loci for schizophrenia."; "PMID:23974872", "https://europepmc.org/articles/PMC3827979"; rdfs:comment "the Psychosis Endophenotype Consortium" . _:a6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of psychosis case, unaffected-relative and control collections from Australia, Germany, the Netherlands, Spain and the United Kingdom that combines genetic data to investigate susceptibility across psychotic disorders, including schizophrenia and bipolar disorder."; "PMID:23871474"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1820; "pooled participants (patients, unaffected relatives, controls) in the 2013 psychosis GWAS before exclusions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3923972/fullTextXML"; rdfs:comment "Before any exclusion, the full data set included 6935 participants with 1820 patients, 1224 of their unaffected relatives, and 3891 healthy control subjects." . _:a6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3891; "pooled participants (patients, unaffected relatives, controls) in the 2013 psychosis GWAS before exclusions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3923972/fullTextXML"; rdfs:comment "Before any exclusion, the full data set included 6935 participants with 1820 patients, 1224 of their unaffected relatives, and 3891 healthy control subjects." . _:a702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6935; "pooled participants (patients, unaffected relatives, controls) in the 2013 psychosis GWAS before exclusions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3923972/fullTextXML"; rdfs:comment "Before any exclusion, the full data set included 6935 participants with 1820 patients, 1224 of their unaffected relatives, and 3891 healthy control subjects." . _:a712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEC"; . a owl:NamedIndividual, ; ; , ; "GCST90096930", "PXD006367"; "A project combining the SHIP-START and SHIP-TREND population cohorts of adults aged 20–79 in West Pomerania, northeast Germany, recruited in 1997–2001 and 2008–2012 respectively, to investigate health, disease and their determinants through repeated examinations."; "The acronym SHIP also denotes Shikamachi health improvement practice genome cohort study (COHO:0001441); this term is Study of Health in Pomerania."@en; 8727; "SHIP", "Study-of-Health-in-Pomerania"; , ; rdfs:label "Study of Health in Pomerania"@en . _:a722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39085387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study population represents a cross-sectional analysis from the cohorts SHIP-START (recruited 1997-2001) and SHIP-TREND (recruited 2008-2012), sampled for baseline investigations (SHIP-START-0 and SHIP-TREND-0) at the age of 20-79 years." . _:a732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/abstract/MED/11565448"; rdfs:comment "A sample of 7008 women and men aged 20 to 79 years in a north-east region of Germany" . _:a742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90096930"; "Genome-wide interaction study with major depression identifies novel variants associated with cognitive function."; "PMID:34782712", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7612684/fullTextXML"; rdfs:comment "The Study of Health in Pomerania consists of two population-based independent cohorts" . _:a752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD006367"; "Cross-Sectional Association of Salivary Proteins with Age, Sex, Body Mass Index, Smoking, and Education."; "PMID:28481548", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD006367"; rdfs:comment "Subjects were randomly selected from the population-based Study of Health in Pomerania (SHIP-Trend)." . _:a762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project combining the SHIP-START and SHIP-TREND population cohorts of adults aged 20–79 in West Pomerania, northeast Germany, recruited in 1997–2001 and 2008–2012 respectively, to investigate health, disease and their determinants through repeated examinations."; "PMID:35348705"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8727; "adults examined at the SHIP-START-0 and SHIP-TREND-0 baselines combined (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11291685/fullTextXML"; rdfs:comment "In total, 8,727 individuals underwent baseline investigations in SHIP-START (n = 4308) and SHIP-TREND (n = 4420)." . _:a782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIP"; . a owl:NamedIndividual, ; , ; "GCST90095475", "PXD052861"; "A cohort of adults from the middle and upper Vinschgau/Val Venosta in South Tyrol, with family participation, biological samples and repeated follow-up to investigate genetic and molecular determinants of age-related chronic conditions and their interaction with lifestyle and environment."; 13393; "CHRIS", "Cooperative Health Research in South Tyrol", "Cooperative Health Research in South Tyrol study"; , ; rdfs:label "The Cooperative Health Research in South Tyrol"@en . _:a792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8615508/fullTextXML"; rdfs:comment "baseline assessment was carried out in Vinschgau/Val Venosta (Bozen/Bolzano, Italy) between 2011 and 2018" . _:a7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095475"; "Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study."; "PMID:34827661", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8615508/fullTextXML"; rdfs:comment "The Cooperative Health Research in South Tyrol (CHRIS) study" . _:a7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD052861"; "Extensive modulation of the circulating blood proteome by hormonal contraceptive use across two population studies."; "PMID:40263456", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD052861"; rdfs:comment "Using Scanning SWATH acquisition on Triple TOF 6600 instruments (Sciex) we created a MS-based plasma proteomics data set with low technical variability for n = 3,632 CHRIS participants." . _:a7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults from the middle and upper Vinschgau/Val Venosta in South Tyrol, with family participation, biological samples and repeated follow-up to investigate genetic and molecular determinants of age-related chronic conditions and their interaction with lifestyle and environment."; "PMID:26541195"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13393; "adults recruited at baseline 2011-2018"; "PMID:34637685"; rdfs:comment "The Cooperative Health Research In South Tyrol (CHRIS) study completed the baseline recruitment of 13,393 adults from the Venosta/Vinschgau rural district in 2018, collecting extensive phenotypic and biomarker data, metabolomic data, densely imputed genotype and whole-exome sequencing data." . _:a7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHRIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2178; , , ; "GCST001421"; "A cohort of adults aged 18–75 from Araihazar, Bangladesh, recruited in 2000–2002 and assessed biennially to investigate health effects of arsenic exposure through drinking water, including chronic disease and mortality."; 11746; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HEALS"; "HEALS", "Health Effect of Arsenic Longitudinal Study"; , ; rdfs:label "The Health Effects of Arsenic Longitudinal Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2178 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2178; "arsenic exposure through drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3285587/fullTextXML"; rdfs:comment "The Health Effects of Arsenic Longitudinal Study (HEALS [41]) is a prospective investigation of health outcomes associated with arsenic exposure through drinking water in a cohort of adults in Araihazar, Bangladesh, a rural area east of the capital city, Dhaka." . _:a802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3285587/fullTextXML"; rdfs:comment "a cohort of adults in Araihazar, Bangladesh, a rural area east of the capital city, Dhaka." . _:a812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001421"; "Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh."; "PMID:22383894", "https://europepmc.org/articles/PMC3285587"; rdfs:comment "The Health Effects of Arsenic Longitudinal Study (HEALS)" . _:a822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 18–75 from Araihazar, Bangladesh, recruited in 2000–2002 and assessed biennially to investigate health effects of arsenic exposure through drinking water, including chronic disease and mortality."; "PMID:20646756"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:a832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11746; "adults aged 18-75 enrolled 2000-2002 (original cohort)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3951449/unicode"; rdfs:comment "From 12 050 residents who met our eligibility criteria from an enumerated total of 65 876 in the study area, 11 746 (97% response rate) men and women (4801 married couples and 2144 married individuals whose spouses did not participate) were enrolled in the HEALS cohort." . _:a842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HEALS"; . a owl:NamedIndividual; ; ; rdfs:comment "Obsoleted 2026-09-22. The term was added by hand on 2026-04-30 alongside an isSubCohortOf axiom on COHO:0000193 TwinGene Study, as the registry that study draws on; no source list or EBI database names a TwinGene Registry (the GWAS Catalog tags are TwinGene and TWINGENE, both COHO:0000193), and TwinGene is a sub-study of the Swedish Twin Registry, COHO:0000160. Replaced by COHO:0000193, which it duplicates by name; consider COHO:0000160 for the registry."@en; rdfs:label "obsolete TwinGene Registry"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; ; "EGAS00001004364"; "A cohort of National Health Service patients with rare diseases or cancer, and their relatives, whose genomes were sequenced by Genomics England within the United Kingdom's national healthcare system to provide diagnoses and discover aetiological variants."; 85000; "100kGP", "Genomics England", "Genomics England / 100,000 Genomes Project", "Genomics England 100,000 Genomes Project"; , ; rdfs:label "100,000 Genomes Project"@en; rdfs:seeAlso . _:a852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004364"; rdfs:comment "Using WGS of UK Biobank1, we showed that rarealleles can explain" . _:a862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004364"; "Whole-genome sequencing of rare disease patients in a national healthcare system" . _:a872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of National Health Service patients with rare diseases or cancer, and their relatives, whose genomes were sequenced by Genomics England within the United Kingdom's national healthcare system to provide diagnoses and discover aetiological variants."; "https://ega-archive.org/studies/EGAS00001004364"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:a882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 85000; "NHS patients with rare disease or cancer whose genomes were sequenced (approximate), 2018"; "https://www.genomicsengland.co.uk/initiatives/100000-genomes-project"; rdfs:comment "Genomics England's very first initiative – sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer – is leading to groundbreaking insights and continued findings into the role genomics can play in healthcare." . _:a892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "100kGP"; . _:a8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genomics England / 100,000 Genomes Project"; . a owl:NamedIndividual, ; , ; , , ; "EGAS00000000038"; "A birth cohort of people born in Great Britain in one week of March 1958, followed through life as the National Child Development Study, whose DNA collection serves as a population control set for genetic association studies such as those of the Wellcome Trust Case Control Consortium."; 17638; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NCDS"; "1958 Birth Cohort", "1958 Birth cohort", "1958 British birth cohort (National Child Development Study (NCDS))", "1958 UK birth cohort", "58BC", "B58C", "BC58", "British 1958 Birth Cohort", "British 1958 birth cohort", "British Birth Cohort", "NCDS", "National Child Development Study"; , ; rdfs:label "1958 British Birth Cohort"@en; rdfs:seeAlso . _:a8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000038"; rdfs:comment "using the 1958 British Birth Cohort as controls" . _:a8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000038"; "T1DGC GWAS 1958 British Birth Cohort controls" . _:a8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of people born in Great Britain in one week of March 1958, followed through life as the National Child Development Study, whose DNA collection serves as a population control set for genetic association studies such as those of the Wellcome Trust Case Control Consortium."; "https://ega-archive.org/studies/EGAS00000000038"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:a8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17638; "individuals born in England, Scotland and Wales in one week of March 1958 (original birth cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4572074/fullTextXML"; rdfs:comment "In brief, participants were drawn up from 17 638 individuals born in England, Scotland and Wales within 1 week of March 1958." . _:a8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "58BC"; . _:a902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "B58C"; . _:a912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BC58"; . _:a922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "British 1958 birth cohort"; . _:a932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCDS"; . a owl:NamedIndividual, ; , ; ; "EGAS50000000090"; "A cohort of 323 healthy adults of the Human Functional Genomics Project who were vaccinated with Bacillus Calmette-Guérin and profiled before and after vaccination to investigate human variation in trained immunity."; 325; "300BCG cohort"; ; rdfs:label "300BCG"@en . _:a942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 323 healthy adults of the Human Functional Genomics Project who were vaccinated with Bacillus Calmette-Guérin and profiled before and after vaccination to investigate human variation in trained immunity."; "https://ega-archive.org/studies/EGAS50000000090"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:a952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 325; "healthy adult volunteers vaccinated with BCG, 2017-2018"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7641012/"; rdfs:comment "Of the 325 individuals vaccinated, 18 participants were vaccinated in the evening and 307 were vaccinated in the morning." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2202; "EGAS00001006707"; "An international registry of the American Association for Cancer Research that aggregates clinical-grade tumour sequencing data and clinical outcomes from patients at participating cancer centres to support precision oncology research."; "The acronym GENIE also denotes Gene-Environmental Interaction and phenotype study (COHO:0000186) and GEnetics of Nephropathy: an International Effort (COHO:0002753); this term is AACR Project GENIE. The EGA study EGAS00001006707 tagged GENIE used this registry."@en; 242000; "GENIE", "Genomics Evidence Neoplasia Information Exchange"; ; rdfs:label "AACR Project GENIE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2202 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2202; "cancer"; "https://ega-archive.org/studies/EGAS00001006707"; rdfs:comment "Methods: This retrospective cohort study analysed genomics data for 121,771 patients who had undergone targeted sequencing compiled by the Genomics Evidence Neoplasia Information Exchange (GENIE) or Foundation Medicine (FM). A statistical approach was developed to identify patients with GCV-associated mutational signature (GCVsig) from targeted sequenced data of tumour samples." . _:a972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006707"; "The University of Hong Kong Colon Cancer GCV Study" . _:a982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international registry of the American Association for Cancer Research that aggregates clinical-grade tumour sequencing data and clinical outcomes from patients at participating cancer centres to support precision oncology research."; "https://ega-archive.org/studies/EGAS00001006707"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:a992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 242000; "patients with sequenced tumours in the public registry release 20.0 (stated as 'more than'), 2026"; "https://aacrprojectgenie.org/data/" . _:a9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENIE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2208; "EGAS50000000131"; "A cohort of patients with metastatic colorectal cancer treated with bevacizumab-containing therapy in the AC-ANGIOPREDICT phase II trial, whose tumour, normal and plasma samples were sequenced to identify biomarkers of response."; 76; "AC-Angiopredict", "ANGIOPREDICT"; ; rdfs:label "AC-ANGIOPREDICT Phase II trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2208 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2208; "metastatic colorectal cancer"; "https://ega-archive.org/studies/EGAS50000000131"; rdfs:comment "Low-coverage whole-genome sequencing (LC-WGS) was performed on tumor tissue, normal tissue and plasma samples collected from mCRC patients from the AC-ANGIOPREDICT Phase II trial (NCT01822444) and the University Medical Center Mannheim (UMM)." . _:a9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with metastatic colorectal cancer treated with bevacizumab-containing therapy in the AC-ANGIOPREDICT phase II trial, whose tumour, normal and plasma samples were sequenced to identify biomarkers of response."; "https://ega-archive.org/studies/EGAS50000000131"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:a9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 76; "patients enrolled in the phase II trial (actual enrolment, ClinicalTrials.gov), 2017"; "https://clinicaltrials.gov/api/v2/studies/NCT01822444?fields=protocolSection.identificationModule,protocolSection.designModule.enrollmentInfo,protocolSection.statusModule.completionDateStruct"; rdfs:comment "\"enrollmentInfo\":{\"count\":76,\"type\":\"ACTUAL\"}" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2212; "EGAS50000000525"; "A cohort of women with HER2-positive early breast cancer enrolled in the ALTTO phase III trial of adjuvant trastuzumab and lapatinib, whose tumours have been profiled to define molecular subtypes associated with the risk of distant recurrence."; 8381; "ALTTO", "ALTTO clinical trial", "ALTTO trial"; ; rdfs:label "Adjuvant Lapatinib and/or Trastuzumab Treatment Optimisation trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2212 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:a9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2212; "HER2-positive breast cancer"; "https://ega-archive.org/studies/EGAS50000000525"; rdfs:comment "Here, by performing gene expression profiling in HER2-positive breast cancers from patients receiving adjuvant trastuzumab in the ALTTO clinical trial, we identified and characterized five molecular subtypes associated with the risk of distant recurrence" . _:a9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000525"; "Identification of HER2-positive breast cancer molecular subtypes with potential clinical implications in the ALTTO clinical trial" . _:aa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women with HER2-positive early breast cancer enrolled in the ALTTO phase III trial of adjuvant trastuzumab and lapatinib, whose tumours have been profiled to define molecular subtypes associated with the risk of distant recurrence."; "https://ega-archive.org/studies/EGAS50000000525"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:aa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8381; "women with HER2-positive early breast cancer randomised, June 2007 to July 2011"; "PMID:26598744" . _:aa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALTTO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2218, _:genid-371333f489424440b12a13b9d98ced822608-genid2220; , , ; "PMID:28419249"; "An H3Africa cohort of women recruited in Abuja, Nigeria, by the African Collaborative Center for Microbiome and Genomics Research to investigate the vaginal microbiome, human papillomavirus persistence and cervical cancer risk, described in the centre's cohort profile."; 11500; "ACCME"; rdfs:label "African Collaborative Center for Microbiome and Genomics Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2218 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2220 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:aa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2218; "persistent high-risk HPV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837640/fullTextXML"; rdfs:comment "The design of the African Collaborative Center for Microbiome and Genomics Research (ACCME) HPV and Cervical Cancer Cohort Study enables us to study environmental, microbiomic, genetic and epigenetic factors associated with persistent hrHPV infection, in order to improve knowledge of the mechanism of HPV carcinogenesis and discover biomarkers of persistent hrHPV infection and cervical cancer." . _:aa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2220; "cervical cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837640/fullTextXML"; rdfs:comment "The design of the African Collaborative Center for Microbiome and Genomics Research (ACCME) HPV and Cervical Cancer Cohort Study enables us to study environmental, microbiomic, genetic and epigenetic factors associated with persistent hrHPV infection, in order to improve knowledge of the mechanism of HPV carcinogenesis and discover biomarkers of persistent hrHPV infection and cervical cancer." . _:aa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28419249"; "Cohort Profile: African Collaborative Center for Microbiome and Genomics Research's (ACCME's) Human Papillomavirus (HPV) and Cervical Cancer Study."; "PMID:28419249" . _:aa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An H3Africa cohort of women recruited in Abuja, Nigeria, by the African Collaborative Center for Microbiome and Genomics Research to investigate the vaginal microbiome, human papillomavirus persistence and cervical cancer risk, described in the centre's cohort profile."; "PMID:28419249"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:aa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11500; "women enrolled in the ACCME HPV and cervical cancer cohort, February 2014 to July 2016"; "PMID:28419249"; rdfs:comment "From commencement of enrolment in February 2014 to July 2016, 11 500 women had been enrolled in the ACCME cohort." . _:aa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACCME"; . a owl:NamedIndividual, ; ; "EGAS00001001917"; "A resource of the African Partnership for Chronic Disease Research that combines approximately 3,000 whole-genome sequences and 600 transcriptomes from African populations into a continent-specific haplotype reference panel, an African transcriptome resource and an informatics centre in Uganda."; 3000; "AGR", "AGR Project"; ; rdfs:label "African Genome Resource"@en . _:aa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001917"; rdfs:comment "Whole genome DNAseq data at 4x-8x depth from approximately 3,000 Africans of 14 distinct ethnicities" . _:aaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001917"; "APCDR The African Genome Resource - A continent specific haplotype reference panel, transcriptomic resource and pan-continental data centre" . _:aab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A resource of the African Partnership for Chronic Disease Research that combines approximately 3,000 whole-genome sequences and 600 transcriptomes from African populations into a continent-specific haplotype reference panel, an African transcriptome resource and an informatics centre in Uganda."; "https://ega-archive.org/studies/EGAS00001001917"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:aac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "Africans with low-depth whole-genome sequence in the African Diversity Reference Panel (approximate)"; "https://ega-archive.org/studies/EGAS00001001917"; rdfs:comment "Whole genome DNAseq data at 4x-8x depth from approximately 3,000 Africans of 14 distinct ethnicities, which is the largest and most diverse set of haplotypes for the continent." . _:aad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGR"; . a owl:NamedIndividual, ; , , , , , ; ; "EGAS00001000959"; "A collection of 1,481 individuals from 18 ethno-linguistic groups in sub-Saharan Africa with dense genotype data, and 320 individuals from seven groups with low-coverage whole-genome sequence, assembled by the African Partnership for Chronic Disease Research to characterise population diversity and support the design and interpretation of genomic studies in Africa."; 1481; "AGVP", "APCDR AGV Project", "APCDR AGVP"; ; rdfs:label "African Genome Variation Project"@en . _:aae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000960"; rdfs:comment "As part of the AGVP we sequenced 3 African populations; Baganda from Uganda (4x), Zulu from South Africa (4x), Gumuz, Wolayta, Oromo, Somali and Amhara from Ethiopia (8x)." . _:aaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000959"; "The African Genome Variation Project shapes medical genetics in Africa."; "PMID:25470054" . _:ab02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 1,481 individuals from 18 ethno-linguistic groups in sub-Saharan Africa with dense genotype data, and 320 individuals from seven groups with low-coverage whole-genome sequence, assembled by the African Partnership for Chronic Disease Research to characterise population diversity and support the design and interpretation of genomic studies in Africa."; "PMID:25470054"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ab12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1481; "individuals from 18 ethno-linguistic groups with dense genotypes (whole-genome sequenced individuals given separately), 2015"; "PMID:25470054"; rdfs:comment "The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa." . _:ab22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGVP"; . a owl:NamedIndividual, ; , , , , ; "EGAS00001001917"; "A consortium of research groups in Africa and the United Kingdom that brings together population cohorts and genomic resources from sub-Saharan Africa, including the African Genome Variation Project, the Uganda General Population Cohort, the Genome Diversity in Africa Project and the Durban diabetes studies, to investigate the genetics of chronic disease in African populations."; "APCDR"; ; rdfs:label "African Partnership for Chronic Disease Research"@en . _:ab32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002583"; rdfs:comment "APCDR Durban Diabetes Study (DDS)" . _:ab42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000959"; rdfs:comment "APCDR AGV Project: The African Genome Variation Project(dense array genotyping data)" . _:ab52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002584"; rdfs:comment "APCDR Diabetes Case Control Study" . _:ab62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000929"; rdfs:comment "APCDR GDAP: Genome Diversity in Africa Study (set of 9 samples at high depth)" . _:ab72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001558"; rdfs:comment "APCDR Uganda GWAS: Genome-wide sequence variation and susceptibility loci for cardiometabolic traits in a sub-Saharan African population (UGWAS component)" . _:ab82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001917"; "APCDR The African Genome Resource - A continent specific haplotype reference panel, transcriptomic resource and pan-continental data centre" . _:ab92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of research groups in Africa and the United Kingdom that brings together population cohorts and genomic resources from sub-Saharan Africa, including the African Genome Variation Project, the Uganda General Population Cohort, the Genome Diversity in Africa Project and the Durban diabetes studies, to investigate the genetics of chronic disease in African populations."; "https://ega-archive.org/studies/EGAS00001001917"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:aba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APCDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2244; , , ; "EGAS50000000752"; "A cohort of adolescent and young adult patients aged 15–39 with acute lymphoblastic leukaemia treated on the Australasian Leukaemia and Lymphoma Group's ALL06 minimal residual disease-stratified paediatric protocol and profiled genomically to relate genomic risk to outcome."; 82; "ALL06", "ALL06 Cohort"; ; rdfs:label "ALLG ALL06"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2244 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:abb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2244; "acute lymphoblastic leukaemia"; "https://ega-archive.org/studies/EGAS50000000752"; rdfs:comment "ALL06 clinical trial described the efficacy and tolerability of AYA ALL patients aged 15-39 years treated on a single minimal residual disease (MRD)-stratified platform." . _:abc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adolescent and young adult patients aged 15–39 with acute lymphoblastic leukaemia treated on the Australasian Leukaemia and Lymphoma Group's ALL06 minimal residual disease-stratified paediatric protocol and profiled genomically to relate genomic risk to outcome."; "https://ega-archive.org/studies/EGAS50000000752"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:abd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 82; "patients aged 15-39 with newly diagnosed Ph-negative ALL enrolled in the ALL06 trial, 2012-2018"; "PMID:40546727"; rdfs:comment "ALLG-ALL06 was a prospective, single-arm phase 2 study that enrolled 82 patients aged 15 to 39 years, with newly diagnosed Philadelphia-negative ALL." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2248; , ; "EGAS00001007855"; "A cohort of 1,181 adult cancer patients starting fluoropyrimidine-based therapy in 17 hospitals in the Netherlands, genotyped prospectively for DPYD variants and analysed genome-wide to identify variants linked to severe fluoropyrimidine toxicity."; 1181; "AlpeDPD Study Cohort", "AlpeDPD study"; ; rdfs:label "Alpe-DPD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2248 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:abe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2248; "cancer"; "https://ega-archive.org/studies/EGAS00001007855"; rdfs:comment "A genome-wide association study (GWAS) with patients treated with fluoropyrimidines was performed to identify genetic variants linked to the severe fluoropyrimidine-related toxicity." . _:abf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 1,181 adult cancer patients starting fluoropyrimidine-based therapy in 17 hospitals in the Netherlands, genotyped prospectively for DPYD variants and analysed genome-wide to identify variants linked to severe fluoropyrimidine toxicity."; "https://ega-archive.org/studies/EGAS00001007855"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ac02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1181; "cancer patients included in the prospective Alpe-DPD study"; "PMID:39148102"; rdfs:comment "In total, 1181 were included in the Alpe-DPD study, of which 1103 were evaluable (Fig. 2 )." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2252; , , ; , ; "EGAS00001002584"; "A collection of type 2 diabetes cases of Zulu descent assembled by the African Partnership for Chronic Disease Research for studies of the genetic basis of diabetes in African populations."; "The acronym DCC also denotes Duke Cognition Cohort (COHO:0000055); this term is APCDR Diabetes Case Control Study."; 1542; 1542; "DCC", "Diabetes Case Control study", "Durban Case Control Study", "Durban Diabetes Case Control study"; ; rdfs:label "APCDR Diabetes Case Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2252 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ac12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2252; "type 2 diabetes"; "https://ega-archive.org/studies/EGAS00001002584"; rdfs:comment "Collection of type 2 diabetes cases of Zulu descent for studies of the genetic basis of diabetes in African populations." . _:ac22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002584"; "APCDR Diabetes Case Control Study" . _:ac32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of type 2 diabetes cases of Zulu descent assembled by the African Partnership for Chronic Disease Research for studies of the genetic basis of diabetes in African populations."; "https://ega-archive.org/studies/EGAS00001002584"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ac42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1542; "individuals of Zulu descent with type 2 diabetes recruited at a tertiary hospital in Durban"; "PMID:31675503"; rdfs:comment "The Diabetes Case Control study is a study of individuals with diabetes recruited from a tertiary hospital in Durban (n = 1,542)." . _:ac52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1542; "individuals of Zulu descent with type 2 diabetes recruited at a tertiary hospital in Durban"; "PMID:31675503"; rdfs:comment "The Diabetes Case Control study is a study of individuals with diabetes recruited from a tertiary hospital in Durban (n = 1,542)." . _:ac62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2259, _:genid-371333f489424440b12a13b9d98ced822608-genid2261; "EGAS50000001346"; "A project that assembles and sequences cohorts of patients with distinct blood cancers, including blastic plasmacytoid dendritic cell neoplasm, high-grade B-cell lymphoma and T lymphoblastic leukaemia/lymphoma, to build a genomic atlas of haematological malignancies."; ; rdfs:label "Atlas of Blood Cancer Genomes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2259 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2261 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ac72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2259; "blood cancer"; "https://ega-archive.org/studies/EGAS50000001346"; rdfs:comment "To address this gap, we performed integrated DNA and RNA sequencing on 88 BPDCN patients representing the largest and most ancestrally diverse cohort described to date (~77% European, ~16% Asian, ~7% African)." . _:ac82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2261; "blastic plasmacytoid dendritic cell neoplasm"; "https://ega-archive.org/studies/EGAS50000001346"; rdfs:comment "To address this gap, we performed integrated DNA and RNA sequencing on 88 BPDCN patients representing the largest and most ancestrally diverse cohort described to date (~77% European, ~16% Asian, ~7% African)." . _:ac92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001346"; "Blastic Plasmacytoid Dendritic Cell Neoplasm: Atlas of Blood Cancer Genomes" . _:aca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project that assembles and sequences cohorts of patients with distinct blood cancers, including blastic plasmacytoid dendritic cell neoplasm, high-grade B-cell lymphoma and T lymphoblastic leukaemia/lymphoma, to build a genomic atlas of haematological malignancies."; "https://ega-archive.org/studies/EGAS50000001346"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2265; , ; "EGAS00001006276"; "A cohort of Australian children with acute myeloid leukaemia whose exomes were analysed for rare germline variants in cancer predisposition genes, compared with the Medical Genome Reference Bank and the TARGET cohort."; ; rdfs:label "Australian childhood AML cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2265 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:acb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2265; "acute myeloid leukaemia"; "https://ega-archive.org/studies/EGAS00001006276"; rdfs:comment "The prevalence of extremely rare variants in the combined childhood AML cohort (n=72) was compared to that in the Medical Genome Reference Bank (MGRB; n=2570) comprising individuals aged at least 70 years with no history of cardiovascular disease, dementia or cancer." . _:acc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001006276"; rdfs:comment "Overall, 21% of the Australian cohort and 25% of the TARGET cohort presented germline variants" . _:acd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Australian children with acute myeloid leukaemia whose exomes were analysed for rare germline variants in cancer predisposition genes, compared with the Medical Genome Reference Bank and the TARGET cohort."; "https://ega-archive.org/studies/EGAS00001006276"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2269; "EGAS00001007976"; "A cohort of patients with atopic dermatitis enrolled in the BEACON eczema drug trial, whose skin and blood samples were profiled by spatial and single-cell transcriptomics and genome sequencing to define cell-cell interactions in atopic dermatitis skin."; 536; "BEACON"; ; rdfs:label "BEACON eczema drug trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2269 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ace2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2269; "atopic dermatitis"; "https://ega-archive.org/studies/EGAS00001007976"; rdfs:comment "Defining the spatial transcriptome and cell-cell interactions in atopic dermatitis skin" . _:acf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007976"; "HCA_Blood_Disease_Atopic_Dermatitis_BEACONomics_DNA_Managed_Access" . _:ad02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with atopic dermatitis enrolled in the BEACON eczema drug trial, whose skin and blood samples were profiled by spatial and single-cell transcriptomics and genome sequencing to define cell-cell interactions in atopic dermatitis skin."; "https://ega-archive.org/studies/EGAS00001007976"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ad12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 536; "adults needing systemic eczema treatment in the BEACON randomised trial (the trial's stated size; may be the planned target)"; "https://www.beacontrial.org/"; rdfs:comment "BEACON is a UK-wide randomised, controlled, 12-month assessor-blind trial in 536 adults who require systemic treatment for their eczema." . _:ad22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEACON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2275; , ; "EGAS00001005234", "PMID:30333627"; "A cohort of patients with acute myeloid leukaemia enrolled by the Beat AML programme in the United States, whose tumour specimens were characterised by exome and RNA sequencing and ex vivo drug sensitivity testing to guide precision therapy."; 805; "BEAT AML Cohort"; ; rdfs:label "Beat AML"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2275 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ad32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2275; "acute myeloid leukaemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8355079/fullTextXML"; rdfs:comment "Within the beatAML cohort 39 , a bone marrow sample and a paired skin sample were taken from 261 AML patients." . _:ad42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005234"; "The evolution of hematopoietic cells under cancer therapy."; "PMID:34376657", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8355079/fullTextXML"; rdfs:comment "Within the beatAML cohort 39 , a bone marrow sample and a paired skin sample were taken from 261 AML patients. The somatic mutations identified in these AML cases were downloaded from the Genomics Data Commons 68 (GDC) repository" . _:ad52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30333627"; "Functional genomic landscape of acute myeloid leukaemia."; "PMID:30333627" . _:ad62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with acute myeloid leukaemia enrolled by the Beat AML programme in the United States, whose tumour specimens were characterised by exome and RNA sequencing and ex vivo drug sensitivity testing to guide precision therapy."; "PMID:30333627"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ad72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 805; "AML patients in the harmonised cumulative Beat AML cohort (942 specimens), 2022"; "PMID:35868306"; rdfs:comment "Here, we present a dataset that has been harmonized with our initial report to yield a cumulative cohort of 805 patients (942 specimens)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2281; , ; "EGAS50000000478"; "A cohort of cancer patients enrolled in the BALLETT precision oncology study of the Belgian Society of Medical Oncology, in which broad molecular tumour profiling was performed in a standardised way by local Belgian diagnostic laboratories to show its value for patient care."; 872; "BALLETT"; ; rdfs:label "Belgian Approach of Local Laboratory Extensive Tumor Testing"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2281 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ad82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2281; "cancer"; "https://ega-archive.org/studies/EGAS50000000478"; rdfs:comment "This 2-year study involves the consortium of 9 cooperating Belgian NGS laboratories and will enroll 936 metastatic or locally advanced cancer patients coming from 13 different Belgian hospitals and cancer centers." . _:ad92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000478"; rdfs:comment "The project, called \"BALLETT\" (Belgian Approach of Local Laboratory Extensive Tumor Testing)" . _:ada2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000478"; "Ballett" . _:adb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of cancer patients enrolled in the BALLETT precision oncology study of the Belgian Society of Medical Oncology, in which broad molecular tumour profiling was performed in a standardised way by local Belgian diagnostic laboratories to show its value for patient care."; "https://ega-archive.org/studies/EGAS50000000478"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:adc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 872; "patients with advanced cancers enrolled from 12 Belgian hospitals (2023)"; "PMID:40065106"; rdfs:comment "This multi-center study enrolled 872 patients from 12 Belgian hospitals." . _:add2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BALLETT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2288; , ; "EGAS50000000568"; "A cohort of patients with early-stage triple negative breast cancer treated in the adaptive phase 2 BELLINI trial with short neoadjuvant nivolumab alone or with ipilimumab, whose tumours were exome sequenced to study immune activation and pathological response."; 46; "Bellini Trail"; ; rdfs:label "BELLINI trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2288 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ade2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2288; "triple negative breast cancer"; "https://ega-archive.org/studies/EGAS50000000568"; rdfs:comment "Single-cell RNA-Seq data and TCR sequencing data (both by 10X Genomics) of 51 TNBC primary tumors obtained from 29 unique patients from BELLINI clinical trial." . _:adf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with early-stage triple negative breast cancer treated in the adaptive phase 2 BELLINI trial with short neoadjuvant nivolumab alone or with ipilimumab, whose tumours were exome sequenced to study immune activation and pathological response."; "https://ega-archive.org/studies/EGAS50000000568"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ae02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 46; "patients treated in stage I of cohorts A, B and C (safety population), 2024"; "PMID:39284953"; rdfs:comment "Treatment-related AEs of any grade occurred in 41 of 46 patients (89%)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2292; "EGAS50000000105"; "A global open-label multicohort trial of patients with advanced or metastatic non-small cell lung cancer whose targetable alterations were identified by blood-based molecular testing, evaluating the efficacy and safety of matched therapies such as entrectinib in ROS1-positive disease."; "BFAST"; ; rdfs:label "Blood First Assay Screening Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2292 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ae12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2292; "non-small cell lung cancer"; "https://ega-archive.org/studies/EGAS50000000105"; rdfs:comment "BFAST is a global, open-label, multicohort trial that evaluates the efficacy and safety of multiple therapies in patients with advanced/metastatic NSCLC and targetable alterations, identified by blood-based molecular testing." . _:ae22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A global open-label multicohort trial of patients with advanced or metastatic non-small cell lung cancer whose targetable alterations were identified by blood-based molecular testing, evaluating the efficacy and safety of matched therapies such as entrectinib in ROS1-positive disease."; "https://ega-archive.org/studies/EGAS50000000105"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ae32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BFAST"; . a owl:NamedIndividual, ; , ; "EGAS00001000462"; "A birth cohort of 13,858 babies and their families recruited during 2007–2011 in the city of Bradford in the north of England, about half of Pakistani heritage, followed prospectively to investigate the determinants of childhood health and used for autozygosity and exome sequencing studies."; 12453; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BIB"; "BIB", "BiB", "Born and Bradford"; , ; rdfs:label "Born in Bradford"@en; rdfs:seeAlso . _:ae42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005273"; rdfs:comment "Born in Bradford (BiB) is similarly focused on a particular local area, the city of Bradford in the north of England, and recruited 13,858 babies between 2007 and 2011" . _:ae52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000462"; "Health and population effects of rare gene knockouts in adult humans with related parents."; "PMID:26940866" . _:ae62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of 13,858 babies and their families recruited during 2007–2011 in the city of Bradford in the north of England, about half of Pakistani heritage, followed prospectively to investigate the determinants of childhood health and used for autozygosity and exome sequencing studies."; "https://ega-archive.org/studies/EGAS00001005273"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ae72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12453; "women recruited in pregnancy 2007-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065350/fullTextXML"; rdfs:comment "Born in Bradford (BiB) is a multi-ethnic birth cohort in Bradford, UK, which recruited 12 453 women with 13 776 pregnancies and 3448 of their partners between 2007 and 2011." . _:ae82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIB"; . _:ae92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BiB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2302; , ; ; "EGAS00001007563"; "A cohort of women with HER2-positive breast cancer enrolled in the Cancer and Leukemia Group B 40601 phase III trial of neoadjuvant paclitaxel with trastuzumab and/or lapatinib, profiled alongside NeoALTTO for immune features that predict prognosis."; 305; ; rdfs:label "CALGB 40601"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2302 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:aea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2302; "HER2-positive breast cancer"; "https://ega-archive.org/studies/EGAS00001007563"; rdfs:comment "Here, we investigated the complexity of B and T cell receptor (BCR and TCR) repertoires, reflecting antigen-specific immune response, in the context of two phase III trials, namely NeoALTTO and CALGB 40601, evaluating neoadjuvant paclitaxel with trastuzumab and/or lapatinib in women affected by HER2-positive breast cancer." . _:aeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007563"; "Immune and clinicopathological features predict HER2-positive breast cancer prognosis in the neoadjuvant NeoALTTO and CALGB 40601 trials" . _:aec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women with HER2-positive breast cancer enrolled in the Cancer and Leukemia Group B 40601 phase III trial of neoadjuvant paclitaxel with trastuzumab and/or lapatinib, profiled alongside NeoALTTO for immune features that predict prognosis."; "https://ega-archive.org/studies/EGAS00001007563"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:aed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 305; "patients randomised in the phase III trial"; "PMID:26527775"; rdfs:comment "Among 305 randomly assigned patients (THL, n = 118; TH, n = 120; TL, n = 67), the pCR rate was 56% (95% CI, 47% to 65%) with THL and 46% (95% CI, 37% to 55%) with TH (P = .13)" . a owl:NamedIndividual, ; , ; "EGAS00001008228"; "A biorepository of tissue and blood samples from organ and tissue donors in Cambridge, United Kingdom, whose donors have been genotyped genome-wide to support Human Cell Atlas and translational research."; "CBTM"; ; rdfs:label "Cambridge Biorepository for Translational Medicine"@en . _:aee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001008228"; rdfs:comment "donor samples provided by the Cambridge Biorepository for Translational Medicine (CBTM)" . _:aef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008228"; "HCA_Genotyping_Adult_Teichmann_DNA" . _:af02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository of tissue and blood samples from organ and tissue donors in Cambridge, United Kingdom, whose donors have been genotyped genome-wide to support Human Cell Atlas and translational research."; "https://ega-archive.org/studies/EGAS00001008228"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:af12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBTM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2311, _:genid-371333f489424440b12a13b9d98ced822608-genid2313; , ; "EGAS50000000879"; "A cohort of patients with idiopathic or trauma-induced subglottic stenosis and controls enrolled prospectively by the Canadian Airways Research Group to investigate the clinical, transcriptional and genetic features of the disease."; "The acronym CARE also denotes Los Angeles component of The Womens Contraceptive and Reproductive Experiences Study (COHO:0000110), Cholesterol and Recurrent Events (COHO:0001569), Childhood Asthma Research and Education Network (COHO:0001570) and Candidate Gene Association Resource (COHO:0001586); this term is Canadian Airways Research Group."@en; 126; 104; "CARE", "CARE - Canadian Airways Research Group", "CARE subglottic stenosis cohort"; ; rdfs:label "Canadian Airways Research Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2311 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2313 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:af22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2311; "trauma-induced subglottic stenosis"; "https://ega-archive.org/studies/EGAS50000000879"; rdfs:comment "In this study, we prospectively enrolled patients with iSGS, trauma-induced subglottic stenosis, and controls to investigate the clinical, transcriptional, and genetic features that may be associated with disease pathogenesis and treatment outcomes." . _:af32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2313; "idiopathic subglottic stenosis"; "https://ega-archive.org/studies/EGAS50000000879"; rdfs:comment "In this study, we prospectively enrolled patients with iSGS, trauma-induced subglottic stenosis, and controls to investigate the clinical, transcriptional, and genetic features that may be associated with disease pathogenesis and treatment outcomes." . _:af42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000879"; "CARE idiopathic subglottic stenosis bulk transcriptomics." . _:af52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with idiopathic or trauma-induced subglottic stenosis and controls enrolled prospectively by the Canadian Airways Research Group to investigate the clinical, transcriptional and genetic features of the disease."; "https://ega-archive.org/studies/EGAS50000000879"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:af62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 126; "patients with iSGS (cases) and controls enrolled to 1 August 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11924928/fullTextXML"; rdfs:comment "We prospectively enrolled 126 patients with iSGS, 104 controls, and 13 patients with traumatic SGS." . _:af72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 104; "patients with iSGS (cases) and controls enrolled to 1 August 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11924928/fullTextXML"; rdfs:comment "We prospectively enrolled 126 patients with iSGS, 104 controls, and 13 patients with traumatic SGS." . _:af82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2320; , ; "EGAS00001000900"; "A cohort of men with intermediate-risk prostate cancer whose tumour genomes, including multiple regions from the same gland, were sequenced by the Canadian Prostate Cancer Genome Network to identify genetic signatures of treatment response."; "CPC-GENE"; ; rdfs:label "Canadian Prostate Cancer Genome Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2320 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:af92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2320; "prostate cancer"; "https://ega-archive.org/studies/EGAS00001000900"; rdfs:comment "Over 5 years, CPC-GENE will sequence the genomes of 350 intermediate risk prostate cancers to identify genetic signatures that differ in cancers that responded well to treatment compared with those that did not." . _:afa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men with intermediate-risk prostate cancer whose tumour genomes, including multiple regions from the same gland, were sequenced by the Canadian Prostate Cancer Genome Network to identify genetic signatures of treatment response."; "https://ega-archive.org/studies/EGAS00001000900"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:afb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPC-GENE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2324; ; "EGAS00001000083"; "A collection of constitutional and tumour DNA pairs from patients with conventional clear cell renal carcinoma assembled by the CAGEKID project of the International Cancer Genome Consortium for comprehensive analysis of somatic and constitutional variation, methylation and expression."; 943; "CAGEKID", "ICGC - CAGEKID: Cancer Genomics of the Kidney", "ICGC CAGEKID"; ; rdfs:label "Cancer Genomics of the Kidney"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2324 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:afc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2324; "conventional (clear cell) renal carcinoma"; "https://ega-archive.org/studies/EGAS00001000083"; rdfs:comment "The aim of CAGEKID is to carry out comprehensive detection of DNA markers for conventional (clear cell) renal carcinoma." . _:afd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000083"; "CAGEKID: Cancer Genomics of the Kidney" . _:afe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of constitutional and tumour DNA pairs from patients with conventional clear cell renal carcinoma assembled by the CAGEKID project of the International Cancer Genome Consortium for comprehensive analysis of somatic and constitutional variation, methylation and expression."; "https://ega-archive.org/studies/EGAS00001000083"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:aff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 943; "ccRCC patients with targeted sequencing, multinational CAGEKID cohort (2023)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10068441/fullTextXML"; rdfs:comment "In this multinational study, comprising final data from a total of 943 patients, we have examined the role of targeted gene sequencing to improve individual risk stratification." . _:b002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGEKID"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2330; , ; "EGAS50000000959"; "A Dutch cohort of patients with treated coeliac disease and controls whose faecal microbiomes were characterised by shotgun metagenomic sequencing, analysed alongside the Lifelines Dutch Microbiome Project."; 128; 106; "CeDNN"; ; rdfs:label "Celiac Disease Northern Netherlands cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2330 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2330; "coeliac disease"; "https://ega-archive.org/studies/EGAS50000000959"; rdfs:comment "To address these limitations, we analysed faecal gut microbiota from two Dutch cohorts, CeDNN (128 treated CeD patients (tCeD), 106 controls) and the Lifelines Dutch Microbiome Project (24 self-reported tCeD, 654 controls), using shotgun metagenomic sequencing." . _:b022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000959"; rdfs:comment "we analysed faecal gut microbiota from two Dutch cohorts, CeDNN (128 treated CeD patients (tCeD), 106 controls)" . _:b032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000959"; "Comparison of the treated celiac disease microbiome to that of controls" . _:b042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch cohort of patients with treated coeliac disease and controls whose faecal microbiomes were characterised by shotgun metagenomic sequencing, analysed alongside the Lifelines Dutch Microbiome Project."; "https://ega-archive.org/studies/EGAS50000000959"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 128; "coeliac disease patients (cases) and controls with faecal samples"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12036492/fullTextXML"; rdfs:comment "The Celiac Disease Northern Netherlands cohort (CeDNN, currently unpublished) comprises 128 CeD patients and 106 controls who provided fecal samples at project onset, with complete metadata including age and sex." . _:b062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 106; "coeliac disease patients (cases) and controls with faecal samples"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12036492/fullTextXML"; rdfs:comment "The Celiac Disease Northern Netherlands cohort (CeDNN, currently unpublished) comprises 128 CeD patients and 106 controls who provided fecal samples at project onset, with complete metadata including age and sex." . _:b072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CeDNN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2338, _:genid-371333f489424440b12a13b9d98ced822608-genid2340, _:genid-371333f489424440b12a13b9d98ced822608-genid2342; , ; "EGAS00001007507"; "A cohort of patients with genetic generalized epilepsy or non-acquired focal epilepsy collected at the CHUM Research Center in Montreal, Canada, and whole-genome sequenced to investigate the genetics of epilepsy."; 247; 377; "CENet"; ; rdfs:label "CENet Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2338 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2340 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2342 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2338; "epilepsy"; "https://ega-archive.org/studies/EGAS00001007507"; rdfs:comment "Epileptic patients have been sequenced as part of the CENet cohort which is composed of patients with Genetic Generalized Epilepsy (GGE) or Non-Acquired Focal Epilepsy (NAFE) collected in CHUM Research Center in Montreal." . _:b092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2340; "Non-Acquired Focal Epilepsy"; "https://ega-archive.org/studies/EGAS00001007507"; rdfs:comment "Epileptic patients have been sequenced as part of the CENet cohort which is composed of patients with Genetic Generalized Epilepsy (GGE) or Non-Acquired Focal Epilepsy (NAFE) collected in CHUM Research Center in Montreal." . _:b0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2342; "Genetic Generalized Epilepsy"; "https://ega-archive.org/studies/EGAS00001007507"; rdfs:comment "Epileptic patients have been sequenced as part of the CENet cohort which is composed of patients with Genetic Generalized Epilepsy (GGE) or Non-Acquired Focal Epilepsy (NAFE) collected in CHUM Research Center in Montreal." . _:b0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007507"; rdfs:comment "collected in CHUM Research Center in Montreal" . _:b0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007507"; "Whole genome sequencing of 108 epileptic patients from CENet cohort" . _:b0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with genetic generalized epilepsy or non-acquired focal epilepsy collected at the CHUM Research Center in Montreal, Canada, and whole-genome sequenced to investigate the genetics of epilepsy."; "https://ega-archive.org/studies/EGAS00001007507"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 247; "analysed subset: whole-genome sequenced patients (cases) and controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10529579/fullTextXML"; rdfs:comment "We used WGS from 377 controls and 247 patients, 123 GGE, 112 NAFE and 12 mixed patients ( Table 1 )." . _:b0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 377; "analysed subset: whole-genome sequenced patients (cases) and controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10529579/fullTextXML"; rdfs:comment "We used WGS from 377 controls and 247 patients, 123 GGE, 112 NAFE and 12 mixed patients ( Table 1 )." . _:b102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CENet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2350, _:genid-371333f489424440b12a13b9d98ced822608-genid2352, _:genid-371333f489424440b12a13b9d98ced822608-genid2354, _:genid-371333f489424440b12a13b9d98ced822608-genid2356, _:genid-371333f489424440b12a13b9d98ced822608-genid2358; , ; "EGAS00001006725", "MTBLS7919"; "A Canadian birth cohort of over 3,600 children recruited during pregnancy in four provinces and followed with environmental, clinical, genetic and microbiome measurements to investigate the developmental origins of asthma, allergy and other chronic conditions."; 3624; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILD"; "CHILD", "Canadian Healthy Infant Longitudinal Development", "Canadian Healthy Infant Longitudinal Development study"; , , ; rdfs:label "CHILD Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2350 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2352 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2354 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2356 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2358 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2350; "environmental determinants of atopic diseases"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILD"; rdfs:comment "The core mission of the CHILD Cohort Study is to advance knowledge about the genetic and environmental determinants of atopic diseases including asthma, allergy, allergic rhinitis, and eczema through trans-disciplinary and longitudinal study, with the goal of advancing the health status and well-being of children in Canada." . _:b122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2352; "asthma"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILD"; rdfs:comment "The core mission of the CHILD Cohort Study is to advance knowledge about the genetic and environmental determinants of atopic diseases including asthma, allergy, allergic rhinitis, and eczema through trans-disciplinary and longitudinal study, with the goal of advancing the health status and well-being of children in Canada." . _:b132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2354; "eczema"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILD"; rdfs:comment "The core mission of the CHILD Cohort Study is to advance knowledge about the genetic and environmental determinants of atopic diseases including asthma, allergy, allergic rhinitis, and eczema through trans-disciplinary and longitudinal study, with the goal of advancing the health status and well-being of children in Canada." . _:b142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2356; "allergy"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILD"; rdfs:comment "The core mission of the CHILD Cohort Study is to advance knowledge about the genetic and environmental determinants of atopic diseases including asthma, allergy, allergic rhinitis, and eczema through trans-disciplinary and longitudinal study, with the goal of advancing the health status and well-being of children in Canada." . _:b152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2358; "allergic rhinitis"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILD"; rdfs:comment "The core mission of the CHILD Cohort Study is to advance knowledge about the genetic and environmental determinants of atopic diseases including asthma, allergy, allergic rhinitis, and eczema through trans-disciplinary and longitudinal study, with the goal of advancing the health status and well-being of children in Canada." . _:b162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS7919"; "Delayed gut microbiota maturation in the first year of life is a hallmark of pediatric allergic disease."; "PMID:37644001", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS7919"; rdfs:comment "Here we show, using deeply phenotyped participants in the CHILD birth cohort (n = 1115), that there are early-life influences and microbiome features which are uniformly associated with four distinct allergic diagnoses at 5 years: atopic dermatitis (AD, n = 367), asthma (As, n = 165), food allergy (FA, n = 136), and allergic rhinitis (AR, n = 187)." . _:b172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Canadian birth cohort of over 3,600 children recruited during pregnancy in four provinces and followed with environmental, clinical, genetic and microbiome measurements to investigate the developmental origins of asthma, allergy and other chronic conditions."; "https://ega-archive.org/studies/EGAS00001006725"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3624; "pregnant women recruited (with 3542 eligible offspring), 2012"; "PMID:26069286"; rdfs:comment "The Canadian Healthy Infant Longitudinal Development (CHILD) birth cohort study recruited 3624 pregnant women, most partners and 3542 eligible offspring." . _:b192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHILD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2364; , ; "EGAS00001006085"; "A cohort of patients with primary, treatment-naive triple negative breast cancer at City of Hope National Medical Center whose tumours were whole-genome and RNA sequenced to relate BRCA and immune configurations to response to platinum-based chemotherapy."; 42; "COH", "COH TNBC Cohort", "COH cohort"; ; rdfs:label "City of Hope triple negative breast cancer cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2364 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2364; "triple negative breast cancer"; "https://ega-archive.org/studies/EGAS00001006085"; rdfs:comment "WGS data relative to 42 primary and treatment-naive triple negative breast cancers, from independent donors." . _:b1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006085"; "To determine the genomic profiles of Triple Negative Breast Cancers (COH cohort)" . _:b1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with primary, treatment-naive triple negative breast cancer at City of Hope National Medical Center whose tumours were whole-genome and RNA sequenced to relate BRCA and immune configurations to response to platinum-based chemotherapy."; "https://ega-archive.org/studies/EGAS00001006085"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 42; "women with TNBC in the COH phase II neoadjuvant trial cohort"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9585706/"; rdfs:comment "This cohort comprises 42 female patients with pathologically confirmed diagnosis of locally advanced and inflammatory TNBC, who were enrolled in a phase II trial testing the safety and efficacy of carboplatin and NAB-paclitaxel in the neoadjuvant setting ( NCT01525966 , ( 17 )) at the City of Hope Comprehensive Cancer Center." . _:b1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2370, _:genid-371333f489424440b12a13b9d98ced822608-genid2372; , ; "EGAS50000000995"; "A United Kingdom consortium that harmonises juvenile idiopathic arthritis and uveitis cohorts and trials, including CAPS, CHARMS and the UK JIA Biologics register, to discover disease mechanisms and biomarkers of treatment response in childhood arthritis."; 5435; "Childhood Arthritis and its Associated Uveitis: Stratification through Endotypes and Mechanism to Deliver Benefit"; ; rdfs:label "CLUSTER consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2370 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2372 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2370; "juvenile idiopathic arthritis"; "https://ega-archive.org/studies/EGAS50000000995"; rdfs:comment "CLUSTER aims to discover novel disease mechanisms and biomarkers in children suffering from Juvenile idiopathic arthritis (JIA)." . _:b202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2372; "uveitis"; "https://ega-archive.org/studies/EGAS50000000995"; rdfs:comment "CLUSTER aims to discover novel disease mechanisms and biomarkers in children suffering from Juvenile idiopathic arthritis (JIA)." . _:b212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United Kingdom consortium that harmonises juvenile idiopathic arthritis and uveitis cohorts and trials, including CAPS, CHARMS and the UK JIA Biologics register, to discover disease mechanisms and biomarkers of treatment response in childhood arthritis."; "https://ega-archive.org/studies/EGAS50000000995"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5435; "individuals in harmonised data of 4 member studies (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9515876/fullTextXML"; rdfs:comment "A total of 7013 records (from 5435 individuals) were identified; of which 2882 (41%, corresponding to 1304 individuals) represented the same child across >1 study." . a owl:NamedIndividual, ; , ; "EGAS00001003748"; "A cohort of 29,066 British blood donors enrolled during 2016–2017 to find the optimum technology for haemoglobin screening, of whom 4,796 consented to join the NIHR BioResource and were genotyped during the development of the UK Biobank version 2 array."; 29029; ; rdfs:label "COMPARE study"@en . _:b232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003748"; rdfs:comment "The COMPARE study enrolled 29,066 British blood between donors between February 2016 and March 2017" . _:b242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003748"; "COMPARE study: participants typed during UK Biobank version 2 array development phase" . _:b252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 29,066 British blood donors enrolled during 2016–2017 to find the optimum technology for haemoglobin screening, of whom 4,796 consented to join the NIHR BioResource and were genotyped during the development of the UK Biobank version 2 array."; "https://ega-archive.org/studies/EGAS00001003748"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 29029; "blood donors consented to COMPARE (stages 1 and 2), 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8048787/fullTextXML"; rdfs:comment "A total of 29 029 participants were consented to participate in the COMPARE study (17 861 in Stage 1 and 11 168 in Stage 2), of whom 21 840 (75.2%) provided data for the current analysis (Figure 1 )." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2380, _:genid-371333f489424440b12a13b9d98ced822608-genid2382; , , , , , , , , , , , , , , , , , , , , , , , , , , ; "EGAS00001005304"; "A worldwide collaborative initiative that brings together COVID-19 case and population cohorts to identify genetic determinants of SARS-CoV-2 infection susceptibility and COVID-19 severity through meta-analysis and shared individual-level data."; "The acronym HGI also denotes the NIMH Human Genetics Initiative repository (COHO:0000094); this term is the COVID-19 Host Genetics Initiative."@en; 49562; 1770206; "COVID-19 HGI", "COVID-19 Host Genetic Initiative", "COVID-19 host genetics consortium", "COVID19 HGI", "COVID19 Host Genetic Initiative", "Covid19 - Human Genetics Initiative", "HGI"; ; rdfs:label "COVID-19 Host Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2380 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2382 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2380; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries." . _:b282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2382; "SARS-CoV-2 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries." . _:b292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "MyCode Health Initiative" . _:b2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "23andMe" . _:b2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9352569/fullTextXML"; rdfs:comment "Penn Medicine Biobank analysis team lead" . _:b2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10208981/fullTextXML"; rdfs:comment "We used a mathematical subtraction approach, as done in our previous work2, to remove signals of previous GenOMICC releases from HGIv6, yielding an independent dataset." . _:b2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10152008/fullTextXML"; rdfs:comment "Further, summary statistics from association studies of HostSeq have been contributed and are aligned with international efforts including the COVID-19 Host Genetic Initiative" . _:b362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39361370+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this second study nested in the SCOURGE consortium, we conducted a genome-wide association study (GWAS) for COVID-19 hospitalization in admixed Americans, comprising a total of 4702 hospitalized cases recruited by SCOURGE and seven other participating studies in the COVID-19 Host Genetic Initiative." . _:b372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Data for initial discovery GWASs (Long COVID HGI data freeze 4) was collected by DBDS, EstBB, FinnGen, GEN-COVID, GENCOV, MexGen-COVID (Supplementary Tables 1, 3–8 and 12), ALSPAC, BoSCO, BQC19, EXCEED, GCAT (COVICAT), Genotek, GOLD, Helix, Ioannina, IrCovid, JapanTaskForce, Lifelines, MoBa, MSCIC, PMBB, SweCovid, COMRI, TiKoCo, TwinsUK, UKB and Understanding Society (Supplementary Tables 11 and 12)." . _:b3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "Amsterdam UMC COVID study group" . _:b3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/supplementaryFiles"; rdfs:comment "Genetic determinants of COVID-19 complications in the Brazilian population Brazil BRACOVID AMR Cases 58 years Controls 54 years Hospital das Clinicas, Sao Paulo University Medical School, and the Brazilian National IRB, CONEP Axiom_PMRA.r3 array" . _:b3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "Corea (Genetics of COVID-related Manifestation)" . _:b3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482689/fullTextXML"; rdfs:comment "for the Genetic influences on severity of COVID-19 illness in Korea" . _:b3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9352569/fullTextXML"; rdfs:comment "Mount Sinai Health System COVID-19 Genomics Initiative analysis team lead" . _:b402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10487930/fullTextXML"; rdfs:comment "In addition, IS-COV cases and additional population controls were collected between 2020 and 2021 in the Variability in immune response genes and prediction of severe SARS-CoV-2 infection (INMUNGEN-Cov2) project [54], UK Biobank [55], and the following cohorts belonging to the COVID-19 host genetics initiative [54]: Determining the Molecular Pathways and Genetic Predisposition of the COVID-19 Cohort Study of the University Medical Center of the Technical University Munich (COMRI) [56], Host genetics and immune response in SARS-CoV-2 infection/ Genetic modifiers for COVID-19 related illness (BelCovid), and Determining the Molecular Pathways and Genetic Predisposition of the Acute Inflammatory Process Caused by SARS-CoV-2 (SPGRX; see Supplementary Table S2)." . _:b412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM7_ESM.pdf"; rdfs:comment "Genomic epidemiology of SARS-Cov-2 and host genetics in Coronavirus Disease 2019 (COVID-19) Data Collection Lead" . _:b422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM7_ESM.pdf"; rdfs:comment "Val Gardena Analysis Team Lead" . _:b432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9352569/supplementaryFiles"; rdfs:comment "Coronagenes Cases and Controls 58.42 years West Midlands Research Ethics Commitee Individuals uploaded raw genotype information from direct-to-consumer DNA genotyping companies, including 23andMe, Ancestry, MyHeritage, and FTDNA." . _:b442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005304"; "Mapping the human genetic architecture of COVID-19."; "PMID:34237774" . _:b452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A worldwide collaborative initiative that brings together COVID-19 case and population cohorts to identify genetic determinants of SARS-CoV-2 infection susceptibility and COVID-19 severity through meta-analysis and shared individual-level data."; "PMID:34237774"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 49562; "cases and controls in the 2021 reported-infection meta-analysis (44 studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Finally, seven loci reached genome-wide significance in the analysis using data for all available 49,562 reported cases of SARS-CoV-2 infection and 1,770,206 controls, using data from a total of 44 studies (Fig. 2a, bottom)." . _:b472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1770206; "cases and controls in the 2021 reported-infection meta-analysis (44 studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Finally, seven loci reached genome-wide significance in the analysis using data for all available 49,562 reported cases of SARS-CoV-2 infection and 1,770,206 controls, using data from a total of 44 studies (Fig. 2a, bottom)." . _:b482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2416, _:genid-371333f489424440b12a13b9d98ced822608-genid2418; , ; "EGAS50000000170"; "A prospective biomarker cohort nested within the Bowel Cancer Screening in Norway trial, recruiting participants with a positive faecal immunochemical test since 2017 for gut metagenome, diet and lifestyle assessment before and after colonoscopy."; 1640; "CRCbiome Study"; ; rdfs:label "CRCbiome"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2416 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2418 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2416; "advanced colorectal lesions"; "https://ega-archive.org/studies/EGAS50000000170"; rdfs:comment "We aim to develop a microbiome-based classification algorithm to identify advanced colorectal lesions in screening participants testing positive for an immunochemical fecal occult blood test (FIT). We will also examine interactions with host factors, diet, lifestyle and prescription drugs." . _:b4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2418; "colorectal cancer"; "https://ega-archive.org/studies/EGAS50000000170"; rdfs:comment "We aim to develop a microbiome-based classification algorithm to identify advanced colorectal lesions in screening participants testing positive for an immunochemical fecal occult blood test (FIT). We will also examine interactions with host factors, diet, lifestyle and prescription drugs." . _:b4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000170"; rdfs:comment "a prospective biomarker study (CRCbiome), nested within a large randomized CRC screening trial in Norway" . _:b4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective biomarker cohort nested within the Bowel Cancer Screening in Norway trial, recruiting participants with a positive faecal immunochemical test since 2017 for gut metagenome, diet and lifestyle assessment before and after colonoscopy."; "https://ega-archive.org/studies/EGAS50000000170"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1640; "FIT-positive screening participants who consented"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13507204/fullTextXML"; rdfs:comment "Those with a positive FIT test (>15 microgram Hb/g feces) were invited to participate in the CRCbiome study ( N = 2700), and 1640 consented." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2423, _:genid-371333f489424440b12a13b9d98ced822608-genid2425, _:genid-371333f489424440b12a13b9d98ced822608-genid2427; "EGAS00001008193"; "A collection of 70 skin tumour subtypes defined by the World Health Organization, sampled from a range of body sites for whole exome, transcriptome and methylation sequencing to build a genomic atlas of dermatological tumours."; "DermAtlas"; ; rdfs:label "DERMATLAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2425 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2427 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2423; "SCC"; "https://ega-archive.org/studies/EGAS00001008193"; rdfs:comment "For 70 key skin tumour subtypes defined by the World Health Organization, that have not undergone extensive genetic analysis previoulsy, we propose to perform whole exome and transcriptome sequencing, from a range of body sites, to build a genomic atlas of dermatological tumours, including detailed maps of SNVs, copy number alterations, genome-wide methylation and expression profiles." . _:b4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2425; "skin cancer"; "https://ega-archive.org/studies/EGAS00001008193"; rdfs:comment "For 70 key skin tumour subtypes defined by the World Health Organization, that have not undergone extensive genetic analysis previoulsy, we propose to perform whole exome and transcriptome sequencing, from a range of body sites, to build a genomic atlas of dermatological tumours, including detailed maps of SNVs, copy number alterations, genome-wide methylation and expression profiles." . _:b502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2427; "BCC"; "https://ega-archive.org/studies/EGAS00001008193"; rdfs:comment "For 70 key skin tumour subtypes defined by the World Health Organization, that have not undergone extensive genetic analysis previoulsy, we propose to perform whole exome and transcriptome sequencing, from a range of body sites, to build a genomic atlas of dermatological tumours, including detailed maps of SNVs, copy number alterations, genome-wide methylation and expression profiles." . _:b512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008193"; "DERMATLAS__SCC_and_BCC_EMseq" . _:b522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 70 skin tumour subtypes defined by the World Health Organization, sampled from a range of body sites for whole exome, transcriptome and methylation sequencing to build a genomic atlas of dermatological tumours."; "https://ega-archive.org/studies/EGAS00001008193"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2431, _:genid-371333f489424440b12a13b9d98ced822608-genid2433, _:genid-371333f489424440b12a13b9d98ced822608-genid2435, _:genid-371333f489424440b12a13b9d98ced822608-genid2437, _:genid-371333f489424440b12a13b9d98ced822608-genid2439; , ; "EGAS00001007409"; "A cohort of children and adults with febrile illness, including multisystem inflammatory syndrome in children, Kawasaki disease and bacterial and viral infections, recruited prospectively at hospitals in the United Kingdom and the European Union by the DIAMONDS consortium to develop blood transcriptomic diagnostic signatures."; "DIAMONDS"; ; rdfs:label "Diagnosis and Management of Febrile Illness using RNA Personalised Molecular Signature Diagnosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2431 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2433 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2435 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2437 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2439 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2431; "febrile illness"; "https://ega-archive.org/studies/EGAS00001007409"; rdfs:comment "RNA sequencing data from children with febrile illness and multisystem inflammatory syndrome in children (MIS-C). Samples used were Whole Blood. Febrile illness controls include children with bacterial and viral infections and healthy controls." . _:b542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2433; "viral infections"; "https://ega-archive.org/studies/EGAS00001007409"; rdfs:comment "RNA sequencing data from children with febrile illness and multisystem inflammatory syndrome in children (MIS-C). Samples used were Whole Blood. Febrile illness controls include children with bacterial and viral infections and healthy controls." . _:b552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2435; "bacterial infections"; "https://ega-archive.org/studies/EGAS00001007409"; rdfs:comment "RNA sequencing data from children with febrile illness and multisystem inflammatory syndrome in children (MIS-C). Samples used were Whole Blood. Febrile illness controls include children with bacterial and viral infections and healthy controls." . _:b562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2437; "Kawasaki Disease"; "https://ega-archive.org/studies/EGAS00001007409"; rdfs:comment "RNA sequencing data from children with febrile illness and multisystem inflammatory syndrome in children (MIS-C). Samples used were Whole Blood. Febrile illness controls include children with bacterial and viral infections and healthy controls." . _:b572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2439; "multisystem inflammatory syndrome in children (MIS-C)"; "https://ega-archive.org/studies/EGAS00001007409"; rdfs:comment "RNA sequencing data from children with febrile illness and multisystem inflammatory syndrome in children (MIS-C). Samples used were Whole Blood. Febrile illness controls include children with bacterial and viral infections and healthy controls." . _:b582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007409"; rdfs:comment "Children presenting with MIS-C to participating hospitals in the United Kingdom and the European Union between April 2020-April 2021 were prospectively recruited." . _:b592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of children and adults with febrile illness, including multisystem inflammatory syndrome in children, Kawasaki disease and bacterial and viral infections, recruited prospectively at hospitals in the United Kingdom and the European Union by the DIAMONDS consortium to develop blood transcriptomic diagnostic signatures."; "https://ega-archive.org/studies/EGAS00001007409"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIAMONDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2444, _:genid-371333f489424440b12a13b9d98ced822608-genid2446; , ; ; "EGAS00001005836"; "A prospective observational precision oncology cohort of the German Cancer Consortium that enrols adults with advanced cancer who are younger than 51 and patients with rare tumours regardless of age, and uses whole-genome or exome and transcriptome sequencing to inform their care."; 1310; "MASTER", "Molecularly Aided Stratification for Tumor Eradication Research"; ; rdfs:label "DKTK MASTER"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2444 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2446 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2444; "rare cancers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35763870+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analysed the molecular profiles and clinical outcomes of patients with pazopanib-treated sarcoma enrolled in a prospective observational study by the German Cancer Consortium, DKTK MASTER, that employs whole-genome/exome sequencing and transcriptome sequencing to inform the care of young adults with advanced cancer across histology and patients with rare cancers." . _:b5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2446; "advanced cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35763870+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analysed the molecular profiles and clinical outcomes of patients with pazopanib-treated sarcoma enrolled in a prospective observational study by the German Cancer Consortium, DKTK MASTER, that employs whole-genome/exome sequencing and transcriptome sequencing to inform the care of young adults with advanced cancer across histology and patients with rare cancers." . _:b5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005836"; rdfs:comment "a prospective observational study by the German Cancer Consortium, DKTK MASTER" . _:b5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005836"; "Gene expression-based prediction of pazopanib efficacy in sarcoma."; "PMID:35763870" . _:b5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational precision oncology cohort of the German Cancer Consortium that enrols adults with advanced cancer who are younger than 51 and patients with rare tumours regardless of age, and uses whole-genome or exome and transcriptome sequencing to inform their care."; "https://ega-archive.org/studies/EGAS00001005836"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1310; "patients enrolled and analysed (first MASTER report), 2021"; "PMID:34112699"; rdfs:comment "We analyzed the molecular profiles and clinical outcomes of 1,310 patients (rare cancers, 75.5%) enrolled in a prospective observational study by the German Cancer Consortium that applies whole-genome/exome and RNA sequencing to inform the care of adults with incurable cancers." . a owl:NamedIndividual, ; , ; "EGAS00001003777"; "A cohort of 3,046 Dutch blood donors recruited by Sanquin Research during 2015–2016 to gain insight into the characteristics, motivations and health of donors, genotyped during the development of the UK Biobank version 2 array."; 3046; "Donor InSight", "Donor InSight-III"; ; rdfs:label "Donor InSight III study"@en . _:b612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003777"; rdfs:comment "The Donor InSight III study, undertaken by Sanquin research, recruited 3,046 Dutch blood donors between 2015 and 2016." . _:b622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003777"; "Donor InSight III study: Participants typed during UK Biobank version 2 array development phase" . _:b632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 3,046 Dutch blood donors recruited by Sanquin Research during 2015–2016 to gain insight into the characteristics, motivations and health of donors, genotyped during the development of the UK Biobank version 2 array."; "https://ega-archive.org/studies/EGAS00001003777"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3046; "donors who took part in DIS-III (2015-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7379571/fullTextXML"; rdfs:comment "In total 3046 (50%) participants provided blood samples and/or questionnaire information for DIS‐III of whom 2868 (47%) participants provided informed consent." . a owl:NamedIndividual, ; , ; ; "EGAS00001001888"; "A cohort of British Bangladeshi and British Pakistani adults recruited in east London and later across England, with consent for recall by genotype, established to find rare homozygous functional variants in healthy humans and to study health in South Asian communities."; 38899; "ELGH", "G&H", "Genes & Health", "Genes and Health"; , ; rdfs:label "East London Genes and Health"@en; rdfs:seeAlso . _:b652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001888"; rdfs:comment "East London Genes and Health (ELGH) is a cohort of healthy British South Asians" . _:b662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001888"; "ELGH_genotyping" . _:b672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of British Bangladeshi and British Pakistani adults recruited in east London and later across England, with consent for recall by genotype, established to find rare homozygous functional variants in healthy humans and to study health in South Asian communities."; "https://ega-archive.org/studies/EGAS00001001888"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 38899; "volunteers recruited to Stage 1, April 2015 to mid-June 2019"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7124496/"; rdfs:comment "Between April 2015 and mid-June 2019, ELGH recruited 38 899 volunteers to Stage 1." . _:b692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELGH"; . _:b6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G&H"; . a owl:NamedIndividual, ; , , ; "EGAS00001004434"; "A cohort of Egyptian healthy volunteers free of cardiovascular disease, of whom 391 were recruited as a pilot phenotyped control cohort with cardiac MRI and targeted sequencing of inherited cardiac condition genes, to define the genetic landscape of an understudied North African population."; 391; "ECCO-GEN"; ; rdfs:label "Egyptian Collaborative Cardiac Genomics Project"@en . _:b6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004434"; rdfs:comment "Here, we present the first 391 Egyptian healthy volunteers (EHVols) recruited to establish a pilot phenotyped control cohort." . _:b6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Egyptian healthy volunteers free of cardiovascular disease, of whom 391 were recruited as a pilot phenotyped control cohort with cardiac MRI and targeted sequencing of inherited cardiac condition genes, to define the genetic landscape of an understudied North African population."; "https://ega-archive.org/studies/EGAS00001004434"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 391; "healthy volunteers recruited Dec 2015 to June 2018 (initial cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7584615/fullTextXML"; rdfs:comment "Here, we report data from an initial cohort of 391 volunteers recruited from December 2015 to June 2018 via national advertisement (brochures, flyers, and public events) and assessed at the Aswan Heart Centre (AHC)." . _:b6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECCO-GEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2466, _:genid-371333f489424440b12a13b9d98ced822608-genid2468; , ; "EGAS00001003741"; "A study cohort of healthy donors, a patient with IL10RA deficiency and children with severe paediatric inflammatory bowel disease at Erasmus MC, whose monocyte-derived dendritic cells and blood mononuclear cells were profiled by RNA sequencing to investigate IL-10 control of T-cell responses."; ; rdfs:label "EMC-DC-IL10R study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2466 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2468 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2466; "inflammatory bowel disease"; "https://ega-archive.org/studies/EGAS00001003741"; rdfs:comment "Using monocyte derived dendritic cells from a patient with an IL10RA deficiency or moDC and PBMC from patients with severe Pediatric Inflammatory Bowel disease we demonstrate that IL-10 signaling in moDCs, but not T cells, is essential for controlling IFNg-secreting CD4+ T cells." . _:b702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2468; "IL10RA deficiency"; "https://ega-archive.org/studies/EGAS00001003741"; rdfs:comment "Using monocyte derived dendritic cells from a patient with an IL10RA deficiency or moDC and PBMC from patients with severe Pediatric Inflammatory Bowel disease we demonstrate that IL-10 signaling in moDCs, but not T cells, is essential for controlling IFNg-secreting CD4+ T cells." . _:b712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003741"; "EMC-DC-IL10R study: RNASeq analysis of moDC and PBMC from healthy human donors and pediatric IBD patients" . _:b722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study cohort of healthy donors, a patient with IL10RA deficiency and children with severe paediatric inflammatory bowel disease at Erasmus MC, whose monocyte-derived dendritic cells and blood mononuclear cells were profiled by RNA sequencing to investigate IL-10 control of T-cell responses."; "https://ega-archive.org/studies/EGAS00001003741"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, ; , ; "EGAS50000001071"; "A national programme of the United Arab Emirates that sequences the genomes of Emirati citizens, 43,608 of whom have been characterised for population-scale variant discovery and allele frequencies."; 815000; "EGP", "Emirati Genome Project"; ; rdfs:label "Emirati Genome Program"@en . _:b732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000001071"; rdfs:comment "a cohort of 43,608 Emirati genomes sequenced as part of the Emirati Genome Program (EGP)" . _:b742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national programme of the United Arab Emirates that sequences the genomes of Emirati citizens, 43,608 of whom have been characterised for population-scale variant discovery and allele frequencies."; "https://ega-archive.org/studies/EGAS50000001071"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 815000; "samples collected from Emirati citizens by April 2025"; "https://www.thenationalnews.com/news/uae/2025/04/17/more-than-800000-emiratis-contribute-to-uae-genome-programme-to-boost-health-of-the-nation/"; rdfs:comment "The latest figures of 815,000 samples, announced at Abu Dhabi Global Health Week, mark a significant rise on the 600,000 which had been collected as of June last year." . _:b762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGP"; . a owl:NamedIndividual, ; , , ; "EGAS00001003283"; "A birth cohort of children in Entebbe, southern Uganda, followed from birth with measures of response to infant vaccinations, malaria episodes, infection and atopy, and genotyped to investigate genetic determinants of vaccine response in sub-Saharan Africa."; 2345; "EMaB"; ; rdfs:label "Entebbe Mother and Baby study"@en . _:b772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003283"; rdfs:comment "the Entebbe Mother and Baby (EMaB) study, an ongoing birth cohort in southern Uganda" . _:b782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003283"; "Genome_wide_association_study_of_vaccine_response_in_infants_from_subSaharan_Africa" . _:b792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of children in Entebbe, southern Uganda, followed from birth with measures of response to infant vaccinations, malaria episodes, infection and atopy, and genotyped to investigate genetic determinants of vaccine response in sub-Saharan Africa."; "https://ega-archive.org/studies/EGAS00001003283"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2345; "live-born children enrolled in the birth cohort, 2003-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13536125/fullTextXML"; rdfs:comment "They were then followed to delivery and 2345 resulting liveborn children, born between 17 April 2003 and 19 April 2006, were enrolled into the EMaBS birth cohort." . _:b7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMaB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2481; ; "EGAS50000000985"; "A cohort of adolescent and young adult patients aged 12 to 29 with newly diagnosed or relapsed high-grade glioma recruited across Europe from 2019 in the EORTC SPECTA RP1759 study to bridge the molecular gap between paediatric and adult oncology."; 50; "EORTC-SPECTA RP1759 Study", "SPECTA RP-1759-AYA"; ; rdfs:label "EORTC-SPECTA RP1759"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2481 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2481; "high-grade glioma"; "https://ega-archive.org/studies/EGAS50000000985"; rdfs:comment "The initial pilot study, activated in February 2019 across Europe, aimed to recruit 50 AYA patients (aged 12-29 years) with newly diagnosed or relapsed high-grade gliomas, and for which matching tumor and blood samples were collected." . _:b7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000985"; rdfs:comment "The initial pilot study, activated in February 2019 across Europe" . _:b7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adolescent and young adult patients aged 12 to 29 with newly diagnosed or relapsed high-grade glioma recruited across Europe from 2019 in the EORTC SPECTA RP1759 study to bridge the molecular gap between paediatric and adult oncology."; "https://ega-archive.org/studies/EGAS50000000985"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50; "AYA patients with high-grade glioma or other high-risk CNS tumours recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:40393126%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "50 AYAs aged 12-29 with newly diagnosed or recurrent HGG and other high risk central nervous system (CNS) tumours were prospectively recruited to the EORTC SPECTA platform study and underwent whole exome sequencing, RNA sequencing and methylation profiling, with central pathological review." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2486; ; "EGAS00001007730"; "A multicentre cohort of women screened for cervical cancer with human papillomavirus testing in Latin America, whose cervical cells were duplex sequenced to explore the somatic driver landscape of healthy and pre-cancerous cervical tissue."; 42502; "ESTAMPA Cohort", "Estudio Multicéntrico de Tamizaje y Triaje de Cáncer de Cuello Uterino con Pruebas del Virus del Papiloma Humano"; ; rdfs:label "ESTAMPA"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2486 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2486; "cervical cancer"; "https://ega-archive.org/studies/EGAS00001007730"; rdfs:comment "We hope to explore the driver landscape in healthy cervical cells, both with and without human papillomavirus, as well as in pre-cancerous lesions." . _:b812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007730"; rdfs:comment "the ESTAMPA cohort, a multicentre study based in Latin America" . _:b822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007730"; "Exome_NanoSeq__ESTAMPA_cervical_cells_" . _:b832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre cohort of women screened for cervical cancer with human papillomavirus testing in Latin America, whose cervical cells were duplex sequenced to explore the somatic driver landscape of healthy and pre-cancerous cervical tissue."; "https://ega-archive.org/studies/EGAS00001007730"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 42502; "women aged 30-64 with valid screening results, 2012-2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10520426/fullTextXML"; rdfs:comment "From December 2012 to December 2021, 42,502 women aged 30–64 years had valid screening tests results in the ESTAMPA study." . a owl:NamedIndividual, ; , ; ; "EGAS50000001181"; "A sub-cohort of 2,509 Estonian Biobank participants who provided stool, oral and plasma samples, supplemented with multi-omic measurements, questionnaires and linkage to national electronic health records to investigate the gut microbiome."; 2509; "EstMB", "Estonian Microbiome Project"; ; rdfs:label "Estonian Microbiome Cohort"@en . _:b852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000001181"; rdfs:comment "As part of the Estonian Biobank, we established the Estonian Microbiome Cohort which includes stool, oral and plasma samples from 2,509 participants" . _:b862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000001181"; rdfs:comment "As part of the Estonian Biobank, we established the Estonian Microbiome Cohort which includes stool, oral and plasma samples from 2,509 participants" . _:b872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001181"; "Gut metagenome associations with extensive digital health data in a volunteer-based EstMB cohort second timepoint data" . _:b882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-cohort of 2,509 Estonian Biobank participants who provided stool, oral and plasma samples, supplemented with multi-omic measurements, questionnaires and linkage to national electronic health records to investigate the gut microbiome."; "https://ega-archive.org/studies/EGAS50000001181"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2509; "Estonian Biobank participants who gave stool, oral and plasma samples"; "https://ega-archive.org/studies/EGAS50000001181"; rdfs:comment "As part of the Estonian Biobank, we established the Estonian Microbiome Cohort which includes stool, oral and plasma samples from 2,509 participants and is supplemented with multi-omic measurements, questionnaires, and regular linkages to national electronic health records." . _:b8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EstMB"; . a owl:NamedIndividual, ; , ; ; "EGAS00001002169"; "A French mother-child cohort of pregnancies recruited in Nancy and Poitiers during 2003–2006 to investigate the pre- and early postnatal determinants of child development and health, contributing to the MeDALL allergy project."; 2002; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/EDEN"; "EDEN", "Study on the pre and early postnatal determinants of child health and development"; , ; rdfs:label "Etude des Déterminants pré et postnatals précoces du développement et de la santé de l'Enfant"@en; rdfs:seeAlso . _:b8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002169"; "MeDALL epigenetics study" . _:b8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French mother-child cohort of pregnancies recruited in Nancy and Poitiers during 2003–2006 to investigate the pre- and early postnatal determinants of child development and health, contributing to the MeDALL allergy project."; "https://ega-archive.org/studies/EGAS00001002169"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2002; "pregnant women recruited 2003-2006 in Nancy and Poitiers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11574648/fullTextXML"; rdfs:comment "Briefly, the study included 2002 pregnant women recruited from 2003 to 2006 in two French university hospitals (Poitiers and Nancy), before 24 weeks of amenorrhoea." . _:b8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2502, _:genid-371333f489424440b12a13b9d98ced822608-genid2504; "EGAS00001000048"; "A European Science Foundation research networking programme of epilepsy genetics groups whose member sites contribute patients with epilepsy and related paroxysmal neurological disorders, mostly with a strong family history, to joint sequencing studies."; ; rdfs:label "EuroEPINOMICS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2502 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2504 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2502; "epileptic encephalopathies"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25262651+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the \"classical\" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium." . _:b902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2504; "epilepsy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25262651+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the \"classical\" epileptic encephalopathies, infantile spasms and Lennox Gastaut syndrome, including 264 trios previously analyzed by the Epi4K/EPGP consortium." . _:b912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000048"; "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies."; "PMID:25262651" . _:b922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European Science Foundation research networking programme of epilepsy genetics groups whose member sites contribute patients with epilepsy and related paroxysmal neurological disorders, mostly with a strong family history, to joint sequencing studies."; "https://ega-archive.org/studies/EGAS00001000048"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2508, _:genid-371333f489424440b12a13b9d98ced822608-genid2510, _:genid-371333f489424440b12a13b9d98ced822608-genid2512, _:genid-371333f489424440b12a13b9d98ced822608-genid2514, _:genid-371333f489424440b12a13b9d98ced822608-genid2516; ; "EGAS00001008346"; "A multicentre European cohort of 1,209 patients with acute coronary syndrome, chronic coronary artery disease, dilated cardiomyopathy or ischaemic cardiomyopathy and 848 controls, whose circulating microRNA profiles were measured to evaluate disease classification and prognosis."; 1209; 848; 2057; "European BestAgeing miRNA Study"; ; rdfs:label "European BestAgeing Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2508 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2510 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2512 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2514 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2516 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:b932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2508; "ischemic cardiomyopathy"; "https://ega-archive.org/studies/EGAS00001008346"; rdfs:comment "This study evaluates the potential of miRNA expression profiles to inform disease classification and risk stratification across major CVD phenotypes, including acute coronary syndrome (ACS), chronic coronary artery disease (CAD), dilated cardiomyopathy (DCM), and ischemic cardiomyopathy (ICM), in a large, multicenter European cohort." . _:b942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2510; "cardiovascular disease"; "https://ega-archive.org/studies/EGAS00001008346"; rdfs:comment "This study evaluates the potential of miRNA expression profiles to inform disease classification and risk stratification across major CVD phenotypes, including acute coronary syndrome (ACS), chronic coronary artery disease (CAD), dilated cardiomyopathy (DCM), and ischemic cardiomyopathy (ICM), in a large, multicenter European cohort." . _:b952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2512; "chronic coronary artery disease"; "https://ega-archive.org/studies/EGAS00001008346"; rdfs:comment "This study evaluates the potential of miRNA expression profiles to inform disease classification and risk stratification across major CVD phenotypes, including acute coronary syndrome (ACS), chronic coronary artery disease (CAD), dilated cardiomyopathy (DCM), and ischemic cardiomyopathy (ICM), in a large, multicenter European cohort." . _:b962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2514; "dilated cardiomyopathy"; "https://ega-archive.org/studies/EGAS00001008346"; rdfs:comment "This study evaluates the potential of miRNA expression profiles to inform disease classification and risk stratification across major CVD phenotypes, including acute coronary syndrome (ACS), chronic coronary artery disease (CAD), dilated cardiomyopathy (DCM), and ischemic cardiomyopathy (ICM), in a large, multicenter European cohort." . _:b972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2516; "acute coronary syndrome"; "https://ega-archive.org/studies/EGAS00001008346"; rdfs:comment "This study evaluates the potential of miRNA expression profiles to inform disease classification and risk stratification across major CVD phenotypes, including acute coronary syndrome (ACS), chronic coronary artery disease (CAD), dilated cardiomyopathy (DCM), and ischemic cardiomyopathy (ICM), in a large, multicenter European cohort." . _:b982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001008346"; rdfs:comment "in a large, multicenter European cohort" . _:b992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008346"; "European BestAgeing Study on microRNA candidates for cardiovascular disease" . _:b9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre European cohort of 1,209 patients with acute coronary syndrome, chronic coronary artery disease, dilated cardiomyopathy or ischaemic cardiomyopathy and 848 controls, whose circulating microRNA profiles were measured to evaluate disease classification and prognosis."; "https://ega-archive.org/studies/EGAS00001008346"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:b9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1209; "participants enrolled at 11 European centres 2013-2017 (cases and controls with miRNA profiles)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12670801/fullTextXML"; rdfs:comment "Two thousand fifty seven participants were enrolled from 11 major centers across Europe from 2013 to 2017." . _:b9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 848; "participants enrolled at 11 European centres 2013-2017 (cases and controls with miRNA profiles)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12670801/fullTextXML"; rdfs:comment "Two thousand fifty seven participants were enrolled from 11 major centers across Europe from 2013 to 2017." . _:b9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2057; "participants enrolled at 11 European centres 2013-2017 (cases and controls with miRNA profiles)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12670801/fullTextXML"; rdfs:comment "Two thousand fifty seven participants were enrolled from 11 major centers across Europe from 2013 to 2017." . a owl:NamedIndividual, ; , ; "EGAS00001003499"; "A longitudinal population-based cohort of approximately 10,000 adults aged 30–69 recruited since 2013 in Leicester, Leicestershire and Rutland, United Kingdom, with baseline data and electronic health record linkage to investigate genetic, environmental and lifestyle determinants of disease and multimorbidity."; 10156; "EXCEED"; ; rdfs:label "Extended Cohort for E-health, Environment and DNA"@en . _:b9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003499"; rdfs:comment "Recruitment has taken place in Leicester, Leicestershire and Rutland since 2013" . _:b9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003499"; "EXCEED Study" . _:ba02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal population-based cohort of approximately 10,000 adults aged 30–69 recruited since 2013 in Leicester, Leicestershire and Rutland, United Kingdom, with baseline data and electronic health record linkage to investigate genetic, environmental and lifestyle determinants of disease and multimorbidity."; "https://ega-archive.org/studies/EGAS00001003499"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ba12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10156; "participants recruited to 4 December 2018 (first recruitment wave)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6659362/fullTextXML"; rdfs:comment "In total, 10 156 participants have been recruited to 4 December 2018." . _:ba22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EXCEED"; . a owl:NamedIndividual, ; , ; "EGAS00001007406"; "A national biobank of the Latvian population, 502 of whose participants were whole-genome sequenced at high coverage to build the first Latvian population-specific reference panel."; 31504; "LATVIANBIOBANK", "LGDB", "Latvia COVID-19 research platform", "Latvian Biobank"; ; rdfs:label "Genome Database of Latvian Population"@en . _:ba32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007406"; rdfs:comment "sequence 502 individuals from the Genome Database of Latvian Population as representatives of the Latvian population" . _:ba42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007406"; "Whole genome sequencing of individuals from Latvia: the first step towards the population-specific reference of genetic variation" . _:ba52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national biobank of the Latvian population, 502 of whose participants were whole-genome sequenced at high coverage to build the first Latvian population-specific reference panel."; "https://ega-archive.org/studies/EGAS00001007406"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ba62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 31504; "biobank participants since 2006 (stated as 'over'), 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6048300/fullTextXML"; rdfs:comment "Since its start in 2006, the LGDB is comprised of biosamples and associated phenotypic and clinical information from over 31,504 participants, constituting approximately 1.5% of the Latvian population." . _:ba72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LATVIANBIOBANK"; . _:ba82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LGDB"; . a owl:NamedIndividual, ; ; ; "EGAS00001000929"; "A project of the African Partnership for Chronic Disease Research that performs high-depth whole-genome sequencing of up to 2,000 individuals from ethnolinguistic groups across sub-Saharan Africa to catalogue human genetic variation on the continent."; 585; "GDAP"; ; rdfs:label "Genome Diversity in Africa Project"@en . _:ba92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000929"; rdfs:comment "we plan to carry out high depth whole genome sequencing of up to 2000 individuals across Africa" . _:baa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000929"; "APCDR GDAP: Genome Diversity in Africa Study (set of 9 samples at high depth)" . _:bab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project of the African Partnership for Chronic Disease Research that performs high-depth whole-genome sequencing of up to 2,000 individuals from ethnolinguistic groups across sub-Saharan Africa to catalogue human genetic variation on the continent."; "https://ega-archive.org/studies/EGAS00001000929"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 585; "individuals whole-genome sequenced at high depth (analysed subset of the project so far)"; "https://ega-archive.org/studies/EGAS00001003602"; rdfs:comment "Currently, 25 individuals from 24 ethnolinguistic groups have been whole-genome sequenced at high depth totalling 585 individuals." . _:bad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GDAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2540; , ; ; "EGAS00001003424"; "A cohort of 4,120 Alzheimer's disease cases diagnosed at the Fundació ACE Memory Clinic in Barcelona and 3,289 controls from Spanish collections, genotyped genome-wide to study Alzheimer's disease susceptibility."; "The acronym ACE also denotes Center for Autism Research and Treatment (COHO:0000032); this term is Genome Research at Fundació ACE."@en, "The acronym GR@ACE resembles GRACE, which denotes Genetic Risk Assessment for Chinese Eaglet-T1D (COHO:0000462); this term is Genome Research at Fundació ACE."@en; 4120; 3289; 7409; "ACE", "Ace Alzheimer Center Barcelona", "GR@ACE", "GR@CE", "Genome Research at Fundacio ACE"; ; rdfs:label "Genome Research at Fundació ACE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2540 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2540; "Alzheimer's disease"; "https://ega-archive.org/studies/EGAS00001003424"; rdfs:comment "The GR@ACE study comprises 7,409 unrelated individuals. 4,120 AD cases were diagnosed at Fundació ACE Memory Clinic (Barcelona, Spain)." . _:baf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003424"; rdfs:comment "4,120 AD cases were diagnosed at Fundació ACE Memory Clinic (Barcelona, Spain)" . _:bb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003424"; "Genome Wide Association Study:GR@ACE Stage I" . _:bb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 4,120 Alzheimer's disease cases diagnosed at the Fundació ACE Memory Clinic in Barcelona and 3,289 controls from Spanish collections, genotyped genome-wide to study Alzheimer's disease susceptibility."; "https://ega-archive.org/studies/EGAS00001003424"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4120; "unrelated individuals genotyped in GR@ACE stage I (AD cases and controls)"; "https://ega-archive.org/studies/EGAS00001003424"; rdfs:comment "The GR@ACE study comprises 7,409 unrelated individuals. 4,120 AD cases were diagnosed at Fundació ACE Memory Clinic (Barcelona, Spain). 3,289 Controls were obtained from three collections (Fundació ACE, Barcelona; DNA National Biobank, Salamanca and HU Valme, Seville)." . _:bb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3289; "unrelated individuals genotyped in GR@ACE stage I (AD cases and controls)"; "https://ega-archive.org/studies/EGAS00001003424"; rdfs:comment "The GR@ACE study comprises 7,409 unrelated individuals. 4,120 AD cases were diagnosed at Fundació ACE Memory Clinic (Barcelona, Spain). 3,289 Controls were obtained from three collections (Fundació ACE, Barcelona; DNA National Biobank, Salamanca and HU Valme, Seville)." . _:bb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7409; "unrelated individuals genotyped in GR@ACE stage I (AD cases and controls)"; "https://ega-archive.org/studies/EGAS00001003424"; rdfs:comment "The GR@ACE study comprises 7,409 unrelated individuals. 4,120 AD cases were diagnosed at Fundació ACE Memory Clinic (Barcelona, Spain). 3,289 Controls were obtained from three collections (Fundació ACE, Barcelona; DNA National Biobank, Salamanca and HU Valme, Seville)." . _:bb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACE"; . _:bb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GR@ACE"; . _:bb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GR@CE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2551; , ; "EGAS00001007786"; "A biobank of adult patients with sepsis due to community-acquired pneumonia or faecal peritonitis recruited from 35 hospitals across the United Kingdom during 2005–2018, with samples for functional genomics and detailed clinical data collected over the first days of intensive care."; 1400; "GAinS"; ; rdfs:label "Genomic Advances in Sepsis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2551 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2551; "sepsis"; "https://ega-archive.org/studies/EGAS00001007786"; rdfs:comment "Patients with sepsis due to community acquired pneumonia or faecal peritonitis were recruited from 35 hospitals across the UK from 2005-2018, with samples for functional genomics and detailed clinical information collected over the first five days of ICU admission." . _:bb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007786"; rdfs:comment "recruited from 35 hospitals across the UK from 2005-2018" . _:bba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of adult patients with sepsis due to community-acquired pneumonia or faecal peritonitis recruited from 35 hospitals across the United Kingdom during 2005–2018, with samples for functional genomics and detailed clinical data collected over the first days of intensive care."; "https://ega-archive.org/studies/EGAS00001007786"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1400; "adult sepsis patients recruited 2005-2018 (stated as '>1,400', a lower bound)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11293594/fullTextXML"; rdfs:comment "The UK Genomic Advances in Sepsis (GAinS) study has recruited a cohort of >1,400 patients with sepsis due to community-acquired pneumonia (CAP) and fecal peritonitis (FP), admitted to adult intensive care units (ICUs) across the United Kingdom." . _:bbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAinS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2557; ; , ; "EGAS00001005836"; "A consortium of German cancer centres, coordinated by the German Cancer Research Center in Heidelberg, that runs joint translational research programmes such as the DKTK MASTER precision oncology cohort."; 1310; "DKTK", "Deutsches Konsortium für Translationale Krebsforschung"; ; rdfs:label "German Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2557 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2557; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35763870+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analysed the molecular profiles and clinical outcomes of patients with pazopanib-treated sarcoma enrolled in a prospective observational study by the German Cancer Consortium, DKTK MASTER, that employs whole-genome/exome sequencing and transcriptome sequencing to inform the care of young adults with advanced cancer across histology and patients with rare cancers." . _:bbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005836"; rdfs:comment "a prospective observational study by the German Cancer Consortium, DKTK MASTER" . _:bbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005836"; rdfs:comment "a prospective observational study by the German Cancer Consortium, DKTK MASTER" . _:bc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005836"; "Gene expression-based prediction of pazopanib efficacy in sarcoma."; "PMID:35763870" . _:bc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of German cancer centres, coordinated by the German Cancer Research Center in Heidelberg, that runs joint translational research programmes such as the DKTK MASTER precision oncology cohort."; "https://ega-archive.org/studies/EGAS00001005836"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1310; "patients in the flagship DKTK MASTER analysis (2021)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=TITLE:%22Guiding%20Therapeutic%20Decisions%20in%20Patients%20with%20Rare%20Cancers%22&format=json&resultType=core"; rdfs:comment "We analyzed the molecular profiles and clinical outcomes of 1,310 patients (rare cancers, 75.5%) enrolled in a prospective observational study by the German Cancer Consortium that applies whole-genome/exome and RNA sequencing to inform the care of adults with incurable cancers." . _:bc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKTK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2565; , ; "EGAS00001000079"; "A collection of German patients with early-onset myocardial infarction and a strong family history of coronary artery disease, used with the UK BHF CAD/MI cohort as the case set of the Cardiogenics re-sequencing study."; "German myocardial infarction cohort"; ; rdfs:label "German MI cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2565 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2565; "myocardial infarction"; "https://ega-archive.org/studies/EGAS00001000079"; rdfs:comment "The experiment will use the early onset patients from the German MI cohort and the UK BHF CAD/MI cohort both of which have strong family history." . _:bc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000079"; "Cardiogenics_re_sequencing" . _:bc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of German patients with early-onset myocardial infarction and a strong family history of coronary artery disease, used with the UK BHF CAD/MI cohort as the case set of the Cardiogenics re-sequencing study."; "https://ega-archive.org/studies/EGAS00001000079"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2569; , ; ; "EGAS00001005973"; "A cohort of twelve patients with relapsed or refractory multiple myeloma carrying an activating BRAF V600E mutation, enrolled in the German-speaking Myeloma Multicenter Group's phase II trial of encorafenib and binimetinib and genomically profiled to identify drivers of resistance."; 12; "THE PHASE II GMMG-BIRMA TRIAL"; ; rdfs:label "GMMG-BIRMA trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2569 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2569; "multiple myeloma"; "https://ega-archive.org/studies/EGAS00001005973"; rdfs:comment "ENCORAFENIB COMBINED WITH BINIMETINIB FOR BRAFV600E-MUTATED RELAPSED/REFRACTORY MULTIPLE MYELOMA: THE PHASE II GMMG-BIRMA TRIAL (Hipo_K08K)" . _:bc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005973"; "ENCORAFENIB COMBINED WITH BINIMETINIB FOR BRAFV600E-MUTATED RELAPSED/REFRACTORY MULTIPLE MYELOMA: THE PHASE II GMMG-BIRMA TRIAL (Hipo_K08K)" . _:bc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of twelve patients with relapsed or refractory multiple myeloma carrying an activating BRAF V600E mutation, enrolled in the German-speaking Myeloma Multicenter Group's phase II trial of encorafenib and binimetinib and genomically profiled to identify drivers of resistance."; "https://ega-archive.org/studies/EGAS00001005973"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12; "RRMM patients with BRAF V600E enrolled in the phase II trial"; "https://ega-archive.org/studies/EGAS00001005973"; rdfs:comment "Twelve RRMM patients with a median of five prior lines of therapy were enrolled." . a owl:NamedIndividual, ; , ; "EGAS00001002123"; "A population-based cohort of adults from Mainz and the Mainz-Bingen district in Germany, recruited from 2007 and followed with cardiovascular, metabolic, ophthalmological and psychological phenotyping to investigate the determinants of cardiovascular and other common diseases."; "The acronym GHS also denotes MyCode Community Health Initiative (COHO:0000448); this term is Gutenberg Health Study."@en; 15010; "GHS", "GHS I", "GHS-1", "GHS-I", "GHS-II", "Gutenberg Health Study I", "Gutenberg Heart Study"; ; rdfs:label "Gutenberg Health Study"@en . _:bcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002123"; "Meta-analysis of Genome-Wide-Association Sudies for plasma Factor XI" . _:bcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adults from Mainz and the Mainz-Bingen district in Germany, recruited from 2007 and followed with cardiovascular, metabolic, ophthalmological and psychological phenotyping to investigate the determinants of cardiovascular and other common diseases."; "https://ega-archive.org/studies/EGAS00001002123"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15010; "participants aged 35-74 at baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34424371+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Gutenberg Health Study (GHS) is a population-based, prospective, observational cohort study in Germany that includes 15,010 participants between 35 and 74 years of age." . _:bce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHS"; . _:bcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHS I"; . _:bd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHS-1"; . _:bd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHS-I"; . _:bd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHS-II"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2582; , ; "EGAS00001005953"; "A population-based cohort of all patients newly diagnosed with a haematological malignancy since 2004 within two adjacent United Kingdom cancer networks covering about four million people, diagnosed by a single integrated laboratory and followed with treatment and outcome data."; 38000; "HMRN", "UK Haematological Malignancy Research Network"; ; rdfs:label "Haematological Malignancy Research Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2582 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2582; "haematological malignancy"; "https://ega-archive.org/studies/EGAS00001005953"; rdfs:comment "Covering a population of around 4 million, HMRN collects detailed information about all patients diagnosed with a haematological malignancy within the HMRN region, accruing around 2,400 new diagnoses each year." . _:bd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005953"; rdfs:comment "The UK’s Haematological Malignancy Research Network (www.HMRN.org) was established in 2004" . _:bd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of all patients newly diagnosed with a haematological malignancy since 2004 within two adjacent United Kingdom cancer networks covering about four million people, diagnosed by a single integrated laboratory and followed with treatment and outcome data."; "https://ega-archive.org/studies/EGAS00001005953"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 38000; "patients newly diagnosed 2004-2019 in the patient cohort (approximate)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9189975/fullTextXML"; rdfs:comment "Providing generalizable information on clinically meaningful cancer subtypes ( Figure 1 ), ∼38 000 patients newly diagnosed in 2004–2019 with a haematological malignancy or related disorder have entered HMRN’s patient cohort, with a further 2500 new diagnoses being added each year." . _:bd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMRN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2588, _:genid-371333f489424440b12a13b9d98ced822608-genid2590; ; , ; ; "EGAS00001006390"; "A prospective cohort study of urban adults in the Czech Republic, Poland, Russia and Lithuania designed to investigate the effect of classical, non-conventional, social and psychosocial risk factors on cardiovascular and other non-communicable diseases in eastern Europe and the former Soviet Union."; 36106; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HAPIEE"; "HAPIEE", "Health, Alcohol, and Psychosocial factors In Eastern Europe (HAPIEE) study"; , ; rdfs:label "Health, Alcohol and Psychosocial factors In Eastern Europe study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2588 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2590 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2588; "alcohol"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17049075+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main hypotheses of the HAPIEE study relate to the role of alcohol, nutrition and psychosocial factors." . _:bd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2590; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17049075+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main hypotheses of the HAPIEE study relate to the role of alcohol, nutrition and psychosocial factors." . _:bda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001006390"; rdfs:comment "HAPIEE Cohort (Siberian branch)" . _:bdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006390"; "HAPIEE Cohort (Siberian branch) blood DNA methylation data (Illumina EPIC arrays)" . _:bdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study of urban adults in the Czech Republic, Poland, Russia and Lithuania designed to investigate the effect of classical, non-conventional, social and psychosocial risk factors on cardiovascular and other non-communicable diseases in eastern Europe and the former Soviet Union."; "https://ega-archive.org/studies/EGAS00001006390"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 36106; "people recruited at baseline in the four country cohorts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9334616/fullTextXML"; rdfs:comment "Altogether 36,106 individuals were recruited at baseline, of whom 24,944 met the inclusion criteria (Fig. 1 )." . _:bde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAPIEE"; . a owl:NamedIndividual, ; , ; "EGAS50000000795"; "A longitudinal multi-ethnic population-based cohort of over 25,000 residents of Amsterdam, the Netherlands, of Dutch, Surinamese, Turkish, Moroccan and Ghanaian origin, followed with examinations, questionnaires and gut microbiome sampling to investigate ethnic differences in health."; 24780; "HELIUS", "HELIUS cohort study"; ; rdfs:label "Healthy Life in an Urban Setting"@en . _:bdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000795"; rdfs:comment "This is a multi-ethnic population-based cohort study in Amsterdam, the Netherlands with in total over 25,000 participants." . _:be02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000795"; "HELIUS paired metagenomics" . _:be12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal multi-ethnic population-based cohort of over 25,000 residents of Amsterdam, the Netherlands, of Dutch, Surinamese, Turkish, Moroccan and Ghanaian origin, followed with examinations, questionnaires and gut microbiome sampling to investigate ethnic differences in health."; "https://ega-archive.org/studies/EGAS50000000795"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:be22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 24780; "participants in the baseline examination (HELIUS-1), 2011-2015"; "PMID:40483003"; rdfs:comment "Between 2011 and 2015, 24 780 individuals (aged 18–70 years) participated in the baseline examination that consisted of a questionnaire, physical examination, and collection of biological material." . _:be32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2602; , , ; ; "EGAS00001002313"; "A collection of 340 gastric cancer cases contributed to the International Cancer Genome Consortium by its Chinese gastric cancer project."; 340; "GACA-CN", "ICGC GACA-CN"; ; rdfs:label "ICGC Gastric Cancer China project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2602 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:be42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2602; "gastric cancer"; "https://ega-archive.org/studies/EGAS00001002313"; rdfs:comment "There are 340 cases belongs to ICGC GACA-CN project." . _:be52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002313"; "There are 340 cases belongs to ICGC GACA-CN project." . _:be62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 340 gastric cancer cases contributed to the International Cancer Genome Consortium by its Chinese gastric cancer project."; "https://ega-archive.org/studies/EGAS00001002313"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:be72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 340; "gastric cancer cases in the ICGC GACA-CN project"; "https://ega-archive.org/studies/EGAS00001002313"; rdfs:comment "There are 340 cases belongs to ICGC GACA-CN project." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2607, _:genid-371333f489424440b12a13b9d98ced822608-genid2609; ; "EGAS00001002271"; "A collection of 20 carcinosarcomas of the endometrium or ovary whose carcinomatous and sarcomatous components were characterised by whole-genome sequencing, RNA sequencing and methylome arrays within the International Cancer Genome Consortium."; 20; "ICGC GCS"; ; rdfs:label "ICGC Gynecological Carcinosarcoma project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2607 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2609 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:be82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2607; "ovarian carcinosarcoma"; "https://ega-archive.org/studies/EGAS00001002271"; rdfs:comment "This dataset provides whole genome sequencing data of normal/tumors pairs from 9 patients with uterine or ovarian carcinosarcoma using the HiSeq 2000 sequencing system." . _:be92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2609; "uterine carcinosarcoma"; "https://ega-archive.org/studies/EGAS00001002271"; rdfs:comment "This dataset provides whole genome sequencing data of normal/tumors pairs from 9 patients with uterine or ovarian carcinosarcoma using the HiSeq 2000 sequencing system." . _:bea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002271"; "Integrative analysis of whole genome sequencing, RNA sequencing and methylome array of 20 carcinosarcomas." . _:beb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 20 carcinosarcomas of the endometrium or ovary whose carcinomatous and sarcomatous components were characterised by whole-genome sequencing, RNA sequencing and methylome arrays within the International Cancer Genome Consortium."; "https://ega-archive.org/studies/EGAS00001002271"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20; "carcinosarcomas (tumours) to be characterised"; "https://ega-archive.org/studies/EGAS00001002271"; rdfs:comment "The aim of ICGC GCS program is to genomically characterize C and S components of 20 tumors, from endometrium or ovary, through an integrative analysis of whole genome sequencing, RNA sequencing and methylome array." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2614; , , ; ; "EGAS00001000249"; "A collection of paired tumour and blood DNA samples from patients with gingivobuccal cancer of the oral cavity, the most prevalent cancer among men in India, recruited at the Advanced Centre for Research, Treatment and Education on Cancer in Mumbai for India's contribution to the International Cancer Genome Consortium."; 50; "ICGC - India Project", "ICGC India", "ICGC-India"; ; rdfs:label "ICGC India Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2614 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2614; "gingivobuccal cancer of the oral cavity"; "https://ega-archive.org/studies/EGAS00001000249"; rdfs:comment "As a part of the ICGC, India has undertaken genomic studies on gingivobuccal cancer of the oral cavity, which is the most prevalent form of cancer among men in India." . _:bee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000249"; rdfs:comment "As a part of the ICGC, India has undertaken genomic studies on gingivobuccal cancer of the oral cavity, which is the most prevalent form of cancer among men in India." . _:bef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000249"; "Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups."; "PMID:24292195" . _:bf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of paired tumour and blood DNA samples from patients with gingivobuccal cancer of the oral cavity, the most prevalent cancer among men in India, recruited at the Advanced Centre for Research, Treatment and Education on Cancer in Mumbai for India's contribution to the International Cancer Genome Consortium."; "https://ega-archive.org/studies/EGAS00001000249"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50; "treatment-naive gingivobuccal cancer patients, discovery set"; "PMID:24292195"; rdfs:comment "With informed consent, blood and tumour tissues were collected at the time of surgical excision, from 50 treatment-naive OSCC-GB patients (discovery set) who underwent a comprehensive staging, curative resection, post-operative radiotherapy±chemotherapy and follow-up at ACTREC." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2620; , , ; ; "EGAS00001002218"; "A collection of 88 hepatocellular carcinomas with matched adjacent normal tissue whose genomes were sequenced within the International Cancer Genome Consortium's Chinese liver cancer project to identify alterations in druggable driver genes."; 88; "ICGC LICA-CN", "LICA-CN"; ; rdfs:label "ICGC Liver Cancer China project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2620 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2620; "hepatocellular carcinoma"; "https://ega-archive.org/studies/EGAS00001002218"; rdfs:comment "The Landscape of Genetic Alterations in Hepatocellular Carcinoma, 88 matched HCC tumour/normal pairs WGS belongs to ICGC LICA-CN project" . _:bf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002218"; "The Landscape of Genetic Alterations in Hepatocellular Carcinoma, 88 matched HCC tumour/normal pairs WGS belongs to ICGC LICA-CN project" . _:bf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 88 hepatocellular carcinomas with matched adjacent normal tissue whose genomes were sequenced within the International Cancer Genome Consortium's Chinese liver cancer project to identify alterations in druggable driver genes."; "https://ega-archive.org/studies/EGAS00001002218"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 88; "HCC patients' tumour/normal pairs sequenced"; "https://ega-archive.org/studies/EGAS00001002218"; rdfs:comment "Whole genome shotgun sequencing (WGS) and the landscaple of somatic mutations in 88 paired samples from HCC patients including tumors and matched adjacent normal tissues using Illumina HiSeq 2000 platform were performed." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2625, _:genid-371333f489424440b12a13b9d98ced822608-genid2627, _:genid-371333f489424440b12a13b9d98ced822608-genid2629, _:genid-371333f489424440b12a13b9d98ced822608-genid2631; , ; ; "EGAS00001000394"; "A collection of germinal-centre B-cell derived lymphomas, including Burkitt, follicular and diffuse large B-cell lymphomas from children and adults, sequenced by the German ICGC MMML-Seq project of the International Cancer Genome Consortium."; 219; "ICGC - MMML-Seq Consortium", "ICGC MMML-Seq Consortium", "Molecular Mechanisms in Malignant Lymphoma by Sequencing"; ; rdfs:label "ICGC MMML-Seq"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2625 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2627 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2629 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2631 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2625; "germinal-center B-cell derived lymphoma"; "https://ega-archive.org/studies/EGAS00001000394"; rdfs:comment "In the framework of the German ICGC MMML-Seq we are currently exploring sequencing data of GCB-lymphomas and paired normal controls as well as normal B-cell subsets separated by FACS." . _:bf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2627; "Burkitt lymphoma"; "https://ega-archive.org/studies/EGAS00001000394"; rdfs:comment "In the framework of the German ICGC MMML-Seq we are currently exploring sequencing data of GCB-lymphomas and paired normal controls as well as normal B-cell subsets separated by FACS." . _:bf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2629; "diffuse large B-cell lymphoma"; "https://ega-archive.org/studies/EGAS00001000394"; rdfs:comment "In the framework of the German ICGC MMML-Seq we are currently exploring sequencing data of GCB-lymphomas and paired normal controls as well as normal B-cell subsets separated by FACS." . _:bf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2631; "follicular lymphoma"; "https://ega-archive.org/studies/EGAS00001000394"; rdfs:comment "In the framework of the German ICGC MMML-Seq we are currently exploring sequencing data of GCB-lymphomas and paired normal controls as well as normal B-cell subsets separated by FACS." . _:bfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000394"; rdfs:comment "In the framework of the German ICGC MMML-Seq" . _:bfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000394"; "Hypermutation of the inactive X chromosome is a frequent event in cancer."; "PMID:24139898" . _:bfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of germinal-centre B-cell derived lymphomas, including Burkitt, follicular and diffuse large B-cell lymphomas from children and adults, sequenced by the German ICGC MMML-Seq project of the International Cancer Genome Consortium."; "https://ega-archive.org/studies/EGAS00001000394"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:bfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 219; "lymphoma genomes with matched normals analysed (adult cohort plus Burkitt lymphomas), analysed subset"; "PMID:33953289"; rdfs:comment "We identified 4538 clusters of very high mutation density (termed kataegis clusters) [27, 28] in 219 lymphoma genomes (consisting of 179 genomes from this study plus 39 pediatric BLs [17] and one adult BL, Supplementary Table S2), using a definition of a maximal intermutation distance of 1000 bp and a minimum of five mutations per cluster." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2637; , ; ; "EGAS00001000725"; "A collection of oesophageal adenocarcinoma tumours, Barrett's oesophagus and lymph-node samples with matched normal DNA, gathered through the UK-wide OCCAMS hospital network for the International Cancer Genome Consortium to catalogue somatic mutations in this cancer."; 997; "ICGC Oesophageal Adenocarcinoma - tumour samples", "OCCAMS", "Oesophageal Cancer Clinical and Molecular Stratification"; ; rdfs:label "ICGC Oesophageal Adenocarcinoma project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2637 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:bfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2637; "oesophageal adenocarcinoma"; "https://ega-archive.org/studies/EGAS00001000725"; rdfs:comment "The oesophageal project will focus on adenocarcinoma which is increasing in incidence in the UK and other developed countries and has a very poor outcome." . _:bff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000725"; rdfs:comment "a UK-wide network of hospitals involved in a research collaboration called the OCCAMS" . _:c002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000725"; "ICGC Oesophageal adenocarcinoma - tumour samples" . _:c012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of oesophageal adenocarcinoma tumours, Barrett's oesophagus and lymph-node samples with matched normal DNA, gathered through the UK-wide OCCAMS hospital network for the International Cancer Genome Consortium to catalogue somatic mutations in this cancer."; "https://ega-archive.org/studies/EGAS00001000725"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 997; "patients with whole-genome sequenced Barrett's, primary OAC or metastatic samples (OCCAMS/ICGC), as surveyed in 2023"; "PMID:37454136"; rdfs:comment "To this end, we survey a cohort of 997 patients across different stages of OAC progression, from pre-malignant to advanced disease (Fig. 1, Supplementary Tables 1, 2)." . _:c032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCCAMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2644; ; "EGAS00001002311"; "A collection of 112 pancreatic cancer samples whole-genome sequenced within the International Cancer Genome Consortium's pancreatic cancer project."; 112; "ICGC Pancreatic Cancer study"; ; rdfs:label "ICGC Pancreatic Cancer project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2644 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2644; "pancreatic cancer"; "https://ega-archive.org/studies/EGAS00001002311"; rdfs:comment "ICGC Pancreatic Cancer study Pancreatic Cancer whole genome sequencing of 112 samples" . _:c052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002311"; "ICGC Pancreatic Cancer study" . _:c062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 112 pancreatic cancer samples whole-genome sequenced within the International Cancer Genome Consortium's pancreatic cancer project."; "https://ega-archive.org/studies/EGAS00001002311"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 112; "pancreatic cancer samples whole-genome sequenced"; "https://ega-archive.org/studies/EGAS00001002311"; rdfs:comment "Pancreatic Cancer whole genome sequencing of 112 samples" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2649, _:genid-371333f489424440b12a13b9d98ced822608-genid2651, _:genid-371333f489424440b12a13b9d98ced822608-genid2653, _:genid-371333f489424440b12a13b9d98ced822608-genid2655; ; "EGAS00001000381"; "A collection of paediatric brain tumours, including medulloblastomas, low-grade astrocytomas and glioblastomas, with matched normal samples, characterised by whole-genome, RNA and methylation sequencing within the International Cancer Genome Consortium's PedBrain Tumor Project."; 96; "ICGC PedBrain", "PedBrain"; ; rdfs:label "ICGC PedBrain Tumor Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2649 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2651 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2653 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2655 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2649; "medulloblastoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23817572+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project." . _:c092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2651; "low-grade astrocytoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23817572+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project." . _:c0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2653; "pilocytic astrocytoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23817572+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project." . _:c0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2655; "pediatric brain tumor"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23817572+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project." . _:c0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000381"; "Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma."; "PMID:23817572" . _:c0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of paediatric brain tumours, including medulloblastomas, low-grade astrocytomas and glioblastomas, with matched normal samples, characterised by whole-genome, RNA and methylation sequencing within the International Cancer Genome Consortium's PedBrain Tumor Project."; "https://ega-archive.org/studies/EGAS00001000381"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 96; "pilocytic astrocytoma patients whole-genome sequenced (one tumour type only), analysed subset"; "PMID:23817572"; rdfs:comment "To investigate the full range of genetic alterations in pilocytic astrocytoma, we performed whole-genome sequencing of tumor and blood DNA from 96 patients (Supplementary Table 1)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2660; , ; ; "EGAS00001000262"; "A collection of prostate cancers with whole-genome, transcriptome and methylome data generated from 2011 under the International Cancer Genome Consortium's Prostate Cancer UK project, to understand multifocal disease, clinical heterogeneity, castration resistance and metastasis."; 112; "CRUK-ICGC Prostate Group", "ICGC Prostate Group"; ; rdfs:label "ICGC Prostate Cancer UK project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2660 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2660; "prostate cancer"; "https://ega-archive.org/studies/EGAS00001000262"; rdfs:comment "Prostate cancer somatic genomic sequencing data generated from 2011 onwards under auspices of the International Cancer Genome Consortium Prostate Cancer UK consortium (CRUK-ICGC Prostate Group)" . _:c102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000262"; rdfs:comment "International Cancer Genome Consortium Prostate Cancer UK consortium (CRUK-ICGC Prostate Group)" . _:c112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000262"; "Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets."; "PMID:29662167" . _:c122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of prostate cancers with whole-genome, transcriptome and methylome data generated from 2011 under the International Cancer Genome Consortium's Prostate Cancer UK project, to understand multifocal disease, clinical heterogeneity, castration resistance and metastasis."; "https://ega-archive.org/studies/EGAS00001000262"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 112; "prostate cancer-normal pairs whole-genome sequenced, analysed subset"; "PMID:29662167"; rdfs:comment "For the 112 cancer-normal pairs in our cohort, we identified 392,753 SNVs, 54,952 indels and 10,921 chromosomal rearrangements (Fig. 1)." . a owl:NamedIndividual, ; , ; "EGAS00001001667"; "A series of exome-sequenced population controls from the United Kingdom assembled by the Institute of Cancer Research's MOPOPGEN programme for comparison with cancer cases."; 648; "MOPOPGEN"; ; rdfs:label "ICR MOPOPGEN UK exome control series"@en . _:c142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001667"; rdfs:comment "ICR MOPOPGEN UK exome control series" . _:c152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001667"; "Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer."; "PMID:27329137" . _:c162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A series of exome-sequenced population controls from the United Kingdom assembled by the Institute of Cancer Research's MOPOPGEN programme for comparison with cancer cases."; "https://ega-archive.org/studies/EGAS00001001667"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 648; "UK 1958 Birth Cohort controls whose exomes were deposited as EGAS00001001667"; "PMID:27329137"; rdfs:comment "WES data on the 1,006 CRC cases and 648 controls have been deposited at the European Genome-phenome Archive, which is hosted by the European Bioinformatics Institute, accession numbers EGAS00001001666 and EGAS00001001667, respectively." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2670; ; "EGAS00001007041"; "An Innovative Medicines Initiative consortium that generated molecular data across large European diabetes cohorts to identify markers of progression from pre-diabetes to type 2 diabetes and of glycaemic deterioration measured as time to insulin initiation."; 68000; "RHAPSODY", "Risk Assessment and Progression of Diabetes"; ; rdfs:label "IMI-RHAPSODY"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2670 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2670; "type 2 diabetes"; "https://ega-archive.org/studies/EGAS00001007041"; rdfs:comment "Molecular data of large diabetes cohorts was generated to identify markers of diabetes progression measured as time to insulin initiation" . _:c192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1350796/full"; rdfs:comment "We used data from two type 2 diabetes cohorts: Hoorn Diabetes Care System (DCS) and Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) within the RHAPSODY consortium." . _:c1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Innovative Medicines Initiative consortium that generated molecular data across large European diabetes cohorts to identify markers of progression from pre-diabetes to type 2 diabetes and of glycaemic deterioration measured as time to insulin initiation."; "https://ega-archive.org/studies/EGAS00001007041"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 68000; "diabetes patients in the 12 cohorts federated by RHAPSODY (stated as 'over 68000'), 2016"; "PMID:38510703"; rdfs:comment "Started in 2016, within the RHAPSODY project, we federated 12 patient cohorts totalling over 68000 diabetes patients." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2675; ; "EGAS50000001533"; "An Innovative Medicines Initiative consortium that builds prospective cohorts of cancer patients, including head and neck, lung and breast cancer cohorts, with integrated tumour immune profiling and longitudinal clinical data to understand how the immune system interacts with tumours and therapy."; 2500; "Integrated Immunoprofiling of Large Adaptive Cancer Patient Cohorts"; ; rdfs:label "IMMUcan"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2675 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2675; "cancer"; "https://ega-archive.org/studies/EGAS50000001533"; rdfs:comment "The goal of IMMUcan is to understand how the immune system interacts with tumors and how therapeutic interventions influence this interaction." . _:c1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000001533"; rdfs:comment "IMMUcan SCCHN1 cohort" . _:c1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001533"; "IMMUcan SCCHN1 cohort" . _:c1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Innovative Medicines Initiative consortium that builds prospective cohorts of cancer patients, including head and neck, lung and breast cancer cohorts, with integrated tumour immune profiling and longitudinal clinical data to understand how the immune system interacts with tumours and therapy."; "https://ega-archive.org/studies/EGAS50000001533"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2500; "cancer patients across five cancer types profiled by the consortium (stated as 'more than 2,500')"; "PMID:40930089"; rdfs:comment "Here, we present two such workflows for multiplexed immunofluorescence and imaging mass cytometry of cancer tissues, which are applied to a total of roughly 10,000 samples from more than 2,500 patients over 6 years." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2681; ; "EGAS50000001533"; "A cohort of patients with locally recurrent or metastatic squamous cell carcinoma of the head and neck receiving first-line immune checkpoint inhibitors, with or without chemotherapy, profiled by the IMMUcan consortium with multiplex imaging, mass cytometry and sequencing alongside longitudinal clinical data."; 253; ; rdfs:label "IMMUcan SCCHN1 cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2681; "squamous cell carcinoma of the head and neck"; "https://ega-archive.org/studies/EGAS50000001533"; rdfs:comment "This cohort includes patients with confirmed locally recurrent and/or metastatic squamous cell carcinoma of the head and neck (SCCHN) who receive first-line treatment with immune checkpoint inhibitors (ICI) or ICI combined with chemotherapy." . _:c222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001533"; "IMMUcan SCCHN1 cohort" . _:c232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with locally recurrent or metastatic squamous cell carcinoma of the head and neck receiving first-line immune checkpoint inhibitors, with or without chemotherapy, profiled by the IMMUcan consortium with multiplex imaging, mass cytometry and sequencing alongside longitudinal clinical data."; "https://ega-archive.org/studies/EGAS50000001533"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 253; "R/M SCCHN patients with WES passing QC in the IMMUcan SCCHN cohorts, analysed subset"; "PMID:41870278"; rdfs:comment "After quality control, a total of 253 patients with WES datasets were included, of which 223 had RNA-seq." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2686; ; "EGAS50000001393"; "A multicentre cohort of patients with systemic autoinflammatory diseases recruited across several European cohorts by the ImmunAID Horizon 2020 project, with integrated immunological and molecular data to identify diagnostic biomarkers and disease pathways."; 450; "ImmunAID study"; ; rdfs:label "ImmunAID"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2686 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2686; "systemic autoinflammatory diseases"; "https://ega-archive.org/studies/EGAS50000001393"; rdfs:comment "The ImmunAID study is a multi-center research program aimed at improving the diagnosis and understanding of systemic autoinflammatory diseases." . _:c262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000001393"; rdfs:comment "The study integrates immunological, and molecular data from patients across several European cohorts." . _:c272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre cohort of patients with systemic autoinflammatory diseases recruited across several European cohorts by the ImmunAID Horizon 2020 project, with integrated immunological and molecular data to identify diagnostic biomarkers and disease pathways."; "https://ega-archive.org/studies/EGAS50000001393"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 450; "patients with systemic autoinflammatory disorders and healthy controls enrolled at 30 centres"; "PMID:41917006"; rdfs:comment "450 patients with different systemic autoinflammatory disorders (SAID) and healthy controls were enrolled from 30 clinical centers throughout Europe and Turkey, to assure a broad inclusion of SAID subtypes and a sufficient number of individuals for rare diseases." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2691; , ; "EGAS00001004964"; "A cohort of patients with metastatic cancer who underwent tumour genomic profiling in IMPACT2, a randomised study at MD Anderson Cancer Center evaluating genomic profiling and matched targeted therapy."; 829; "IMPACT 2", "IMPACT2"; ; rdfs:label "Initiative for Molecular Profiling and Advanced Cancer Therapy 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2691 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2691; "cancer"; "https://ega-archive.org/studies/EGAS00001004964"; rdfs:comment "Preliminary Results from the Initiative for Molecular Profiling and Advanced Cancer Therapy 2 (IMPACT 2) Study Type: Cancer Genomics" . _:c2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004964"; "Preliminary Results from the Initiative for Molecular Profiling and Advanced Cancer Therapy 2 (IMPACT 2) Study" . _:c2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with metastatic cancer who underwent tumour genomic profiling in IMPACT2, a randomised study at MD Anderson Cancer Center evaluating genomic profiling and matched targeted therapy."; "https://ega-archive.org/studies/EGAS00001004964"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 829; "patients with advanced metastatic cancer enrolled in IMPACT2 (Parts A and B)"; "PMID:41963611"; rdfs:comment "Of 829 patients with advanced metastatic cancer enrolled in the IMPACT2 study, 692 completed molecular testing." . _:c2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPACT 2"; . _:c2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPACT2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2698; , , , , , , , , , , ; "EGAS00001002311"; "An international consortium of cancer genome projects, each characterising the somatic and germline genomes of a tumour type in a defined population, that coordinates the projects' data and analyses, including the Pan-Cancer Analysis of Whole Genomes."; 2658; "ICGC"; ; rdfs:label "International Cancer Genome Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2698 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2698; "cancer"; "https://ega-archive.org/studies/EGAS00001001651"; rdfs:comment "The Pancancer Analysis of Whole Genomes (PCAWG) study is an international collaboration to identify common patterns of mutation in more than 2,800 cancer whole genomes from the International Cancer Genome Consortium." . _:c302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000092"; rdfs:comment "The CLL Genome Project, as a contributing member of the International Cancer Genome Consortium (ICGC)" . _:c312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000083"; rdfs:comment "CAGEKID is a part of the International Cancer Genome Consortium, ICGC." . _:c322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002313"; rdfs:comment "There are 340 cases belongs to ICGC GACA-CN project." . _:c332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002271"; rdfs:comment "The aim of ICGC GCS program is to genomically characterize C and S components of 20 tumors" . _:c342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000249"; rdfs:comment "As a part of the ICGC, India has undertaken genomic studies on gingivobuccal cancer of the oral cavity" . _:c352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002218"; rdfs:comment "88 matched HCC tumour/normal pairs WGS belongs to ICGC LICA-CN project" . _:c362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000394"; rdfs:comment "In the framework of the German ICGC MMML-Seq" . _:c372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000725"; rdfs:comment "ICGC Oesophageal adenocarcinoma - tumour samples" . _:c382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002311"; rdfs:comment "ICGC Pancreatic Cancer study" . _:c392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000381"; rdfs:comment "This study, conducted by the International Cancer Genome Consortium PedBrain Tumor Project (ICGC PedBrain, http://www.pedbraintumor.org/)" . _:c3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000262"; rdfs:comment "International Cancer Genome Consortium Prostate Cancer UK consortium (CRUK-ICGC Prostate Group)" . _:c3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002311"; "ICGC Pancreatic Cancer study" . _:c3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of cancer genome projects, each characterising the somatic and germline genomes of a tumour type in a defined population, that coordinates the projects' data and analyses, including the Pan-Cancer Analysis of Whole Genomes."; "https://ega-archive.org/studies/EGAS00001001651"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2658; "cancer donors (tumour and matched normal genomes) in the 2020 PCAWG flagship analysis, ICGC and TCGA"; "PMID:32025007"; rdfs:comment "Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA)." . _:c3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2715; , , , , , ; "EGAS00001005110"; "A consortium of longitudinal Parkinson's disease cohorts, including EPIPARK and the Harvard Biomarkers Study, that pools prospectively followed patients for genome-wide survival studies of progression to dementia and other outcomes."; 8099; "IGPP"; ; rdfs:label "International Genetics of Parkinson Disease Progression Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2715 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2715; "Parkinson disease"; "https://ega-archive.org/studies/EGAS00001005110"; rdfs:comment "The data are the aggregate results from an IGPP Consortium genome-wide survival study, showing overall risk for Parkinson disease progression associated with each variant in a longitudinal cohort study. 11.2 million deeply imputed variants in 3,821 PD patients who were prospectively tracked with 36,123 visits over a median of 6.7 years from disease onset (inter-quartile range, 4.2 years) were analyzed." . _:c402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-021-00847-6/MediaObjects/41588_2021_847_MOESM1_ESM.pdf"; rdfs:comment "Number of PD patients represented in each cohort: HBS (n = 626); DATATOP (n = 435); PreCEPT (n = 330); NET-PDLS1 (n = 501); PROPARK (n = 330); DIGPD (n = 414); CamPIGIN (n = 129); PICNICS (n = 248); PDBP (n = 375); PPMI (n = 512); Banner Health (n = 153); PROPARK-C (n = 276); Tartu (n = 206); ParkWest (n = 169); PIB (n = 168)." . _:c412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5244667/fullTextXML"; rdfs:comment "five purpose‐built biomarkers and clinical observational studies from academic centers (Harvard Biomarker Study [HBS],19, 20, 21, 22 PROfiling PARKinson's disease [PROPARK],16 and the French Drug Interaction with Genes in PD [DIGPD])" . _:c422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-021-00847-6/MediaObjects/41588_2021_847_MOESM1_ESM.pdf"; rdfs:comment "Number of PD patients represented in each cohort: HBS (n = 626); DATATOP (n = 435); PreCEPT (n = 330); NET-PDLS1 (n = 501); PROPARK (n = 330); DIGPD (n = 414); CamPIGIN (n = 129); PICNICS (n = 248); PDBP (n = 375); PPMI (n = 512); Banner Health (n = 153); PROPARK-C (n = 276); Tartu (n = 206); ParkWest (n = 169); PIB (n = 168)." . _:c432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8459648/unicode"; rdfs:comment "To avoid overfitting, we tested the performance of the pre-specified polygenic hazard score (PHS) score in 520 patients from three, independent cohorts with detailed longitudinal clinical phenotyping, De Novo Parkinson Cohort (DeNoPa), EPIPARK, and HBS2 (Supplementary Table 1), from Germany and the US." . _:c442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5244667/fullTextXML"; rdfs:comment "The analysis included two population‐based, incident cohort studies (Cambridgeshire Parkinson's Incidence from GP to Neurologist [CamPaIGN],17 Parkinsonism: Incidence, Cognition and Non‐motor heterogeneity in Cambridgeshire (PICNICS)14, 18;" . _:c452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5244667/fullTextXML"; rdfs:comment "five purpose‐built biomarkers and clinical observational studies from academic centers (Harvard Biomarker Study [HBS],19, 20, 21, 22 PROfiling PARKinson's disease [PROPARK],16 and the French Drug Interaction with Genes in PD [DIGPD])" . _:c462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of longitudinal Parkinson's disease cohorts, including EPIPARK and the Harvard Biomarkers Study, that pools prospectively followed patients for genome-wide survival studies of progression to dementia and other outcomes."; "https://ega-archive.org/studies/EGAS00001005110"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8099; "Parkinson's disease patients represented in the 24 IGPP cohorts pooled in the 2026 meta-analysis"; "PMID:42135313"; rdfs:comment "Out of the total of 8099 patients represented in the 24 cohorts, 7745 participants had the genetic and covariate data available for inclusion in the downstream analyses (Supplementary Fig. 1)." . _:c482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGPP"; . a owl:NamedIndividual, ; , , , , ; "EGAS00001002548"; "A collection of DNA samples and cell lines from populations of African, Asian and European ancestry assembled by the International HapMap Project to map common patterns of human genetic variation, which serves as a reference panel and control set for genetic studies."; 1184; "HapMap", "International HapMap"; ; rdfs:label "International HapMap Project"@en . _:c492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002548"; "WGS__15x__of_139_Maasai_individuals_from_the_HapMap_collection" . _:c4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples and cell lines from populations of African, Asian and European ancestry assembled by the International HapMap Project to map common patterns of human genetic variation, which serves as a reference panel and control set for genetic studies."; "https://ega-archive.org/studies/EGAS00001002548"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1184; "reference individuals from 11 populations genotyped in HapMap 3 (2010)"; "PMID:20811451"; rdfs:comment "To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals." . _:c4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HapMap"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2730; "EGAS00001001266"; "A consortium funded under the European Seventh Framework Programme that grew out of the WTCCC3 pre-eclampsia GWAS and combines maternal and fetal pre-eclampsia case-control collections from Europe and Central Asia for genome-wide meta-analyses."; 9515; 157719; "InterPregGen FP7 project", "International Pregnancy Genetics", "Preeclampsia InterPregGen Consortium"; ; rdfs:label "InterPregGen"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2730 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2730; "preeclampsia"; "https://ega-archive.org/studies/EGAS00001001266"; rdfs:comment "Preeclampsia InterPregGen Consortium: Large-scale GWAS meta-analysis of maternal preclampsia cases and controls from Europe and Central Asia." . _:c4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001266"; "Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women."; "PMID:33239696" . _:c4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium funded under the European Seventh Framework Programme that grew out of the WTCCC3 pre-eclampsia GWAS and combines maternal and fetal pre-eclampsia case-control collections from Europe and Central Asia for genome-wide meta-analyses."; "https://ega-archive.org/studies/EGAS00001001266"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9515; "maternal cases and controls in the 2020 maternal preeclampsia GWAS meta-analysis (Europe and Central Asia); no total stated"; "PMID:33239696"; rdfs:comment "Preeclamptic women from Europe and Central Asia (9515 cases and 157,719 controls)" . _:c512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 157719; "maternal cases and controls in the 2020 maternal preeclampsia GWAS meta-analysis (Europe and Central Asia); no total stated"; "PMID:33239696"; rdfs:comment "Preeclamptic women from Europe and Central Asia (9515 cases and 157,719 controls)" . a owl:NamedIndividual, ; , , ; "EGAS00001007580"; "A cohort of Koreans whose whole genomes are sequenced by the Korean Genome Project, 4,157 of whom form the Korea4K resource with 107 health check-up parameters for genome-phenome association studies."; 4157; "KGP", "Korea4K"; ; rdfs:label "Korean Genome Project"@en . _:c522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007580"; rdfs:comment "4,157 whole-genome sequences (Korea4K) coupled with 107 health check-up parameters as the largest genomic resource of the Korean Genome Project" . _:c532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007580"; "Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups."; "PMID:38626723" . _:c542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Koreans whose whole genomes are sequenced by the Korean Genome Project, 4,157 of whom form the Korea4K resource with 107 health check-up parameters for genome-phenome association studies."; "https://ega-archive.org/studies/EGAS00001007580"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4157; "Korean whole genomes in the Korea4K phase of the project (2024)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11020240/fullTextXML"; rdfs:comment "Here, we present the second phase of the Korean Genome Project (KGP) with 4,157 sets of whole genome data, Korea4K." . _:c562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KGP"; . a owl:NamedIndividual, ; , ; ; ; "EGAS00001001704"; "A sub-cohort of approximately 1,500 LifeLines participants from the northern Netherlands who provided additional biological materials, including gut microbiome samples, for multi-omic investigation of the factors that contribute to health and disease."; 1539; "LL-DEEP", "LifeLines DEEP", "Lifelines-DEEP", "LifelinesDEEP"; ; rdfs:label "LifeLines-DEEP"@en . _:c572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001704"; rdfs:comment "The LifeLines-DEEP cohort is a sub-cohort of the LifeLines cohort (167,729 participants)" . _:c582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001704"; rdfs:comment "The LifeLines-DEEP cohort is a sub-cohort of the LifeLines cohort (167,729 participants)" . _:c592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001704"; "Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics."; "PMID:26319774" . _:c5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-cohort of approximately 1,500 LifeLines participants from the northern Netherlands who provided additional biological materials, including gut microbiome samples, for multi-omic investigation of the factors that contribute to health and disease."; "https://ega-archive.org/studies/EGAS00001001704"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1539; "LifeLines participants enrolled in LifeLines DEEP, April-August 2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4554905/fullTextXML"; rdfs:comment "Initially, 1539 participants were included in the LifeLines DEEP study." . a owl:NamedIndividual, ; , ; ; "EGAS50000000133"; "A birth cohort of approximately 1,500 newborns and their mothers from the three northern provinces of the Netherlands, nested in LifeLines and followed from pregnancy through the first year of life and beyond with microbiome and virome sampling."; 1450; "LifeLines-NEXT"; ; rdfs:label "Lifelines-NEXT"@en . _:c5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000133"; rdfs:comment "The cohort includes approximately 1,500 newborns and their mothers from the 3 provinces of the Northern Netherlands." . _:c5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32100173%20AND%20SRC%3AMED&resultType=core&format=json"; rdfs:comment "In Lifelines NEXT we aim to include 1500 pregnant Lifelines participants and intensively follow them, their partners and their children until at least 1 year after birth." . _:c5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000133"; "Lifelines NEXT" . _:c5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of approximately 1,500 newborns and their mothers from the three northern provinces of the Netherlands, nested in LifeLines and followed from pregnancy through the first year of life and beyond with microbiome and virome sampling."; "https://ega-archive.org/studies/EGAS50000000133"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1450; "pregnant Lifelines participants included 2016-2023 (mothers; partners and children also followed)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10908809/fullTextXML"; rdfs:comment "From 2016 to 2023, we included 1450 pregnant Lifelines participants in Lifelines NEXT and intensively followed them, their partners and their children up to at least 1 year after birth." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2751, _:genid-371333f489424440b12a13b9d98ced822608-genid2753; , ; "EGAS00001005076"; "A cohort of 567 women with singleton pregnancies recruited at the Liverpool Women's Hospital at 16 and 20 weeks of gestation, with genome-wide genotypes and blood transcriptomes, to identify early pregnancy biomarkers of spontaneous preterm birth and preterm premature rupture of membranes."; 567; ; rdfs:label "Liverpool Preterm Birth Biomarker Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2751 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2753 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2751; "spontaneous preterm birth"; "https://ega-archive.org/studies/EGAS00001005076"; rdfs:comment "Women with a previous history of sPTB pregnancies <34 weeks were categorised on their index pregnancy outcome as spontaneous preterm birth (SPTB) and preterm premature rupture of membranes (PPROM) or high-risk term control (HTERM, ≥37 weeks)." . _:c622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2753; "preterm premature rupture of membranes"; "https://ega-archive.org/studies/EGAS00001005076"; rdfs:comment "Women with a previous history of sPTB pregnancies <34 weeks were categorised on their index pregnancy outcome as spontaneous preterm birth (SPTB) and preterm premature rupture of membranes (PPROM) or high-risk term control (HTERM, ≥37 weeks)." . _:c632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001005076"; rdfs:comment "recruited at the Liverpool Women’s Hospital at 16 and 20 weeks of gestation" . _:c642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005076"; "Liverpool Preterm Birth Biomarker Study" . _:c652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 567 women with singleton pregnancies recruited at the Liverpool Women's Hospital at 16 and 20 weeks of gestation, with genome-wide genotypes and blood transcriptomes, to identify early pregnancy biomarkers of spontaneous preterm birth and preterm premature rupture of membranes."; "https://ega-archive.org/studies/EGAS00001005076"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 567; "women with singleton pregnancies recruited at Liverpool Women's Hospital"; "https://ega-archive.org/studies/EGAS00001005076"; rdfs:comment "Whole blood samples were obtained from women with singleton pregnancies (N=567) recruited at the Liverpool Women’s Hospital at 16 and 20 weeks of gestation." . a owl:NamedIndividual, ; , ; ; "EGAS00001000143"; "A subset of the FINRISK 2012 sample collection consisting of participants recruited in Kuusamo, Finland, whose genomes were sequenced at 1x coverage."; "FINRISK 2012 Kuusamo sample", "The Low coverage Kuusamo whole genome sequencing study"; ; rdfs:label "Low coverage Kuusamo whole genome sequencing study"@en . _:c672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000143"; rdfs:comment "The sampels in this study have all been collected in Kuusamo." . _:c682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000143"; "Kuusamo_low_coverage_WGS" . _:c692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A subset of the FINRISK 2012 sample collection consisting of participants recruited in Kuusamo, Finland, whose genomes were sequenced at 1x coverage."; "https://ega-archive.org/studies/EGAS00001000143"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2762; , ; "EGAS00001005340"; "A prospective cohort of 365 individuals at risk of lung cancer, of whom 129 were diagnosed with lung cancer, recruited at Bispebjerg Hospital in Copenhagen, Denmark, for cell-free DNA fragmentation analysis to detect and characterise lung cancer."; 365; "LUCAS"; ; rdfs:label "Lung Cancer Diagnostic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2762 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2762; "lung cancer"; "https://ega-archive.org/studies/EGAS00001005340"; rdfs:comment "we examined a prospective study of 365 individuals at risk for lung cancer (Lung Cancer Diagnostic Study, LUCAS), including 129 individuals ultimately diagnosed with lung cancer and 236 individuals determined to not have lung cancer." . _:c6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 365 individuals at risk of lung cancer, of whom 129 were diagnosed with lung cancer, recruited at Bispebjerg Hospital in Copenhagen, Denmark, for cell-free DNA fragmentation analysis to detect and characterise lung cancer."; "https://ega-archive.org/studies/EGAS00001005340"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 365; "individuals at risk of lung cancer examined consecutively at Bispebjerg Hospital over seven months"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8379179/fullTextXML"; rdfs:comment "We examined patient blood samples from a prospective observational trial of 365 individuals examined consecutively at Bispebjerg Hospital in Copenhagen, Denmark (LUCAS cohort) during a seven-month period." . _:c6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LUCAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2767; "EGAS00001005979"; "A cohort of patients with lung neuroendocrine neoplasms, including typical and atypical carcinoids, assembled by the IARC-led lungNENomics project for whole-genome, transcriptome and methylation profiling to characterise these tumours molecularly."; 259; "lungNENomics project"; ; rdfs:label "lungNENomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2767 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2767; "lung neuroendocrine tumours"; "https://ega-archive.org/studies/EGAS00001005979"; rdfs:comment "This study contains raw multi-omics data generated as part of the lungNENomics project, a multi-omics study aimed at deep molecular profiling of lung neuroendocrine tumours, including typical carcinoids (grade 1) and atypical carcinoids (grade 2)." . _:c6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001005979"; "Clinical and molecular characterisation of supra-carcinoids: a novel neuroendocrine neoplasm" . _:c702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with lung neuroendocrine neoplasms, including typical and atypical carcinoids, assembled by the IARC-led lungNENomics project for whole-genome, transcriptome and methylation profiling to characterise these tumours molecularly."; "https://ega-archive.org/studies/EGAS00001005979"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 259; "patients with a lung neuroendocrine tumour in the lungNENomics series (pathological review), 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11233924/fullTextXML"; rdfs:comment "The lungNENomics series is a multicentre, international, retrospective cohort of 259 patients diagnosed with an LNET, whose clinical data are summarised in Table 1 ." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2772; , ; "EGAS00001001924"; "A collection of irritable bowel syndrome cases and controls from studies at Maastricht University Medical Centre, the Netherlands, whose gut microbiomes were characterised by metagenomic sequencing."; 313; "MIBS"; ; rdfs:label "Maastricht IBS studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2772 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2772; "irritable bowel syndrome"; "https://ega-archive.org/studies/EGAS00001001924"; rdfs:comment "Metagenomic sequencing of the human gut in Maastricht IBS studies, cases and controls." . _:c732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001001924"; rdfs:comment "Metagenomic sequencing of the human gut in Maastricht IBS studies, cases and controls." . _:c742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001924"; "MIBS MGS" . _:c752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of irritable bowel syndrome cases and controls from studies at Maastricht University Medical Centre, the Netherlands, whose gut microbiomes were characterised by metagenomic sequencing."; "https://ega-archive.org/studies/EGAS00001001924"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 313; "IBS cases and controls from Maastricht UMC+ with faecal metagenomes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6969170/fullTextXML"; rdfs:comment "an IBS case–control cohort with 313 participants from Maastricht University Medical Center + (MUMC + ) 37 – 39 ." . _:c772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2779; , , , ; "EGAS00001000629"; "An international network of investigators that assembles samples and data from malaria-endemic countries in Africa, Asia and Oceania to study the genomic epidemiology of malaria, including a low-coverage whole-genome sequence reference set of African ethnic groups."; 17056; "Genomic Epidemiology of Malaria Project", "MalariaGEN"; ; rdfs:label "Malaria Genomic Epidemiology Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2779 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2779; "malaria" . _:c792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-malawi/"; rdfs:comment "Clinical data and DNA samples were contributed to the MalariaGEN Consortial Project 1 (CP1) along with those of 11 other case-control studies from a total of 11 malaria-endemic countries." . _:c7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-north-east-tanzania/"; rdfs:comment "Clinical data and DNA samples were contributed to the MalariaGEN Consortial Project 1 (CP1) along with those of 11 other case-control studies from a total of 11 malaria-endemic countries." . _:c7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/ng.3107"; rdfs:comment "Map of the locations of the MalariaGEN Partner Study sites involved in this project.1. UK Resource Centre, Oxford University and Wellcome Trust Sanger Institute. 2. The Gambia, MRC Laboratories, Banjul. 3. Mali, University of Bamako, Bamako. 4. Burkina Faso, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou. 5. Ghana (Navrongo), Navrongo Memorial Institute for Medical Research with Navrongo Health Research Centre. 6. Ghana (Kumasi), Kwame Nkrumah University of Science and Technology. 7. Nigeria, University of Ibadan.8. Cameroon, University of Buea. 9. Kenya, KEMRI–Wellcome Research Programme, Kilifi." . _:c7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-kumasi-ghana/"; rdfs:comment "Clinical data and DNA samples were contributed to the MalariaGEN Consortial Project 1 (CP1) along with those of 11 other case-control studies from a total of 11 malaria-endemic countries." . _:c7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000629"; "WGS_low_coverage_sequencing_of_Fulani_from_Burkina_Faso" . _:c7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international network of investigators that assembles samples and data from malaria-endemic countries in Africa, Asia and Oceania to study the genomic epidemiology of malaria, including a low-coverage whole-genome sequence reference set of African ethnic groups."; "https://ega-archive.org/studies/EGAS00001000629"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17056; "severe malaria cases and population controls in the 2019 genome-wide association analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6914791/fullTextXML"; rdfs:comment "A total of 17,056 samples had PCs and assigned case/control status, and were included in association analyses." . _:c802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MalariaGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2789; , , ; "EGAS00001006518"; "A hospital-based cohort of breast cancer patients in Malaysia whose tumours, including triple-negative cancers, have been characterised by exome and RNA sequencing to develop classifiers such as a gene signature for homologous recombination deficiency."; 934; "Malaysian Breast Cancer research cohort and genomics project", "Malaysian hospital-based cohort (MyBrCa)", "MyBrCa"; ; rdfs:label "Malaysian Breast Cancer cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2789 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2789; "breast cancer"; "https://ega-archive.org/studies/EGAS00001006518"; rdfs:comment "We developed a gene expression-based classifier for homologous recombination deficiency (HRD) in breast cancer patients using WES and RNA-seq data obtained from 94 TNBC samples from a Malaysian hospital-based cohort (MyBrCa)." . _:c822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001006518"; rdfs:comment "94 TNBC samples from a Malaysian hospital-based cohort (MyBrCa)" . _:c832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006518"; "Gene signature for predicting homologous recombination deficiency in triple-negative breast cancer" . _:c842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of breast cancer patients in Malaysia whose tumours, including triple-negative cancers, have been characterised by exome and RNA sequencing to develop classifiers such as a gene signature for homologous recombination deficiency."; "https://ega-archive.org/studies/EGAS00001006518"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 934; "female breast cancer patients in the MyBrCa tumour cohort (recruited 2012-2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11035138/fullTextXML"; rdfs:comment "The MyBrCa tumour cohort comprises of 934 female breast cancer patients of self-reported Malaysian nationality who were sequentially recruited from two Malaysian hospitals, Subang Jaya Medical Centre and Universiti Malaya Medical Centre." . _:c862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MyBrCa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2796, _:genid-371333f489424440b12a13b9d98ced822608-genid2798; ; , ; , ; "EGAS00001000936"; "A population-based prospective cohort of about 30,000 residents of Malmö, Sweden, born 1923–1950 and recruited during 1991–1996 with dietary, lifestyle, clinical and genetic data to investigate diet, cancer and cardiovascular disease."; 30446; "MD", "MDC", "MDCS", "Malmö Diet and Cancer cohort"; ; rdfs:label "Malmö Diet and Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2796 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2798 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2796; "diet" . _:c882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2798; "cancer" . _:c892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000936"; rdfs:comment "the Malmö Diet and Cancer (MDC) study" . _:c8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000936"; "Ischemic stroke in a Swedish case-control study." . _:c8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of about 30,000 residents of Malmö, Sweden, born 1923–1950 and recruited during 1991–1996 with dietary, lifestyle, clinical and genetic data to investigate diet, cancer and cardiovascular disease."; "https://ega-archive.org/studies/EGAS00001000936"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30446; "Malmö residents born 1923-1950 who attended baseline screening 1991-1996"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9004064/fullTextXML"; rdfs:comment "All residents in Malmö, Sweden born between 1923 and 1950 without exclusions were invited to an initial screening 1991–1996 and 30,446 participated [ 25 ]." . _:c8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MD"; . _:c8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDC"; . _:c8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2807; , , , , ; "EGAS00001002169"; "A European Union Seventh Framework Programme project that combines European birth cohorts, including INMA, EDEN, BAMSE and PIAMA, to investigate the mechanisms of the development of allergy through harmonised phenotypes and epigenetic and other omic measurements."; 44000; "MeDALL"; ; rdfs:label "Mechanisms of the Development of Allergy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2807 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:c902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2807; "allergy"; "https://ega-archive.org/studies/EGAS00001002169"; rdfs:comment "MeDALL- (Mechanisms of the Development of ALLergy) is a collaborative project supported by the European Union under the Health Cooperation Work Programme of the 7th Framework programme (grant agreement number 261357)." . _:c912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002169"; rdfs:comment "Children’s Allergy Environment Stockholm Epidemiology study(BAMSE)" . _:c922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002169"; rdfs:comment "MeDALL epigenetics study includes illumina 450k methylation measurements from 4 cohorts: Infancia y Medio Ambiente (INMA)" . _:c932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002169"; rdfs:comment "Etudes des Déterminants pré et postnatals précoces du développement et de la santé de l’ENfant (EDEN)" . _:c942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002169"; rdfs:comment "Prevention and Incidence of Asthma and Mite Allergy (PIAMA)" . _:c952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6071724/fullTextXML"; rdfs:comment "This study is based on data from five ongoing European birth cohorts in three different countries participating in MeDALL. Of the cohorts included, we selected those with a) relevant information on maternal smoking during pregnancy or SHS exposure during the first year of life; b) follow-up between 14 and 16 y of age; and c) suitable outcome assessments from three predefined age intervals (4–6, 8–10, and 14–16 y).The following five cohorts were included: Children, Allergy, Milieu, Stockholm, Epidemiology (BAMSE) (single-center, Sweden) (Wickman et al. 2002), German Infant Nutritional Intervention (GINIplus) (multicenter, Germany) (Berg et al. 2010), Influences of Lifestyle-Related Factors on the Immune System and the Development of Allergies in Childhood (LISAplus) (multicenter, Germany) (Zutavern et al. 2008), Multicentre Allergy Study (MAS) (multicenter, Germany) (Bergmann et al. 1994), and Prevention and Incidence of Asthma and Mite Allergy (PIAMA) (multicenter, the Netherlands) (Wijga et al. 2014)." . _:c962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002169"; "MeDALL epigenetics study" . _:c972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European Union Seventh Framework Programme project that combines European birth cohorts, including INMA, EDEN, BAMSE and PIAMA, to investigate the mechanisms of the development of allergy through harmonised phenotypes and epigenetic and other omic measurements."; "https://ega-archive.org/studies/EGAS00001002169"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 44000; "participants of the 14 member birth cohorts in the MeDALL knowledge base (approximate), 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5248602/fullTextXML"; rdfs:comment "The MeDALL knowledge base integrates historical and newly collected data from around 44 000 participants on 398 clinical and phenotypic attributes (harmonized from 7495 individual cohort variables) and 160 different follow‐ups at 25 different time points between pregnancy and age 20." . _:c992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeDALL"; . a owl:NamedIndividual, ; , ; ; "EGAS00001003511"; "A whole-genome sequence resource of 4,000 healthy individuals aged 60 to 95 with no history of cancer, cardiovascular disease or dementia, recruited from two Australian community-based cohorts to serve as a reference population depleted of pathogenic alleles."; 4000; "MGRB", "The Medical Genome Reference BioBank"; ; rdfs:label "Medical Genome Reference Bank"@en . _:c9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003511"; rdfs:comment "recruited from two Australian community based cohorts" . _:c9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908035/fullTextXML"; rdfs:comment "Of these, 717 were from healthy participants aged ≥70 years and have become part of the Medical Genome Reference Bank." . _:c9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003511"; "The Medical Genome Reference Bank: a whole genome data resource of 4,000 healthy elderly individuals." . _:c9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A whole-genome sequence resource of 4,000 healthy individuals aged 60 to 95 with no history of cancer, cardiovascular disease or dementia, recruited from two Australian community-based cohorts to serve as a reference population depleted of pathogenic alleles."; "https://ega-archive.org/studies/EGAS00001003511"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:c9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4000; "healthy older individuals from ASPREE and the 45 and Up Study selected for whole-genome sequencing (2019)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6336775/fullTextXML"; rdfs:comment "The MGRB is comprised of 4000 healthy, older individuals, mostly of European descent, recruited from two Australian community-based cohorts." . _:c9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGRB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2824; , ; "EGAS00001004812"; "A collection of malignant pleural mesothelioma samples from the French MESOMICS project, characterised by whole-genome sequencing, RNA sequencing and methylation arrays."; 120; "MESOMICS Project"; ; rdfs:label "MESOMICS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2824 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ca02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2824; "malignant pleural mesothelioma"; "https://ega-archive.org/studies/EGAS00001004812"; rdfs:comment "Multi-omic data (whole-genome sequencing, RNA-seq, EPIC 850K methylation arrays) for 123 samples from the MESOMICS project, the French project of molecular characterization of malignant pleural mesothelioma" . _:ca12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004812"; rdfs:comment "the MESOMICS project, the French project of molecular characterization of malignant pleural mesothelioma" . _:ca22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004812"; "Integrative multi-omic analyses of malignant pleural mesothelioma" . _:ca32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of malignant pleural mesothelioma samples from the French MESOMICS project, characterised by whole-genome sequencing, RNA sequencing and methylation arrays."; "https://ega-archive.org/studies/EGAS00001004812"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ca42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 120; "malignant pleural mesothelioma patients with multi-omic data (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9881451/fullTextXML"; rdfs:comment "In the context of the MESOMICS project, we have performed the most comprehensive molecular characterization of MPM to date, with the underlying dataset made of the largest whole-genome sequencing series yet reported, together with transcriptome sequencing and methylation arrays for 120 MPM patients." . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. The Milan cohort of EGAS00001004390 (Subtype specific studies of breast cancer progression. Milan cohort.) is not a named cohort: the study’s paper (PMC7299965) calls it the third of three tissue cohorts, “Milan”, unpublished before, with fresh frozen tissue from 34 breast tumours, and gives it no name beyond the city. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Milan cohort"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "EGAS00001003419"; "A population-based cohort of 1,000 healthy individuals of western European ancestry recruited in France by the Institut Pasteur's Milieu Intérieur project to dissect the interplay between genetics, environment and the immune system."; 1000; "MI", "Milieu Interieur", "Milieu Intérieur cohort"; ; rdfs:label "Milieu Intérieur"@en . _:ca52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003419"; rdfs:comment "The Milieu Intérieur project is a population-based study coordinated by the Institut Pasteur, Paris." . _:ca62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 1,000 healthy individuals of western European ancestry recruited in France by the Institut Pasteur's Milieu Intérieur project to dissect the interplay between genetics, environment and the immune system."; "https://ega-archive.org/studies/EGAS00001003419"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ca72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "healthy donors aged 20-69 recruited 2012-2013, stratified by sex and decade"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13354573/fullTextXML"; rdfs:comment "To identify the determinants of immune variability, the Milieu Intérieur (MI) population cohort study 14 was established in 2012–2013, consisting of 1000 well-defined healthy donors equally stratified by age and sex (100 male and 100 female donors in each decade of life between 20 and 69 years old)." . _:ca82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2834; , ; "EGAS00001008226"; "A cohort of 398 patients with ovarian cancer enrolled at 47 centres in the single-arm phase IV MITO16A/MaNGO-OV2 trial of first-line carboplatin, paclitaxel and bevacizumab, studied for clinical and biological prognostic factors."; 398; "MITO-16A/MaNGO-OV2A", "MITO16A"; ; rdfs:label "MITO16A/MaNGO-OV2 trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2834 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ca92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2834; "ovarian cancer"; "https://ega-archive.org/studies/EGAS00001008226"; rdfs:comment "This study analyzes the copy number profiles from circulating tumor DNA (ctDNA) in plasma samples withdrawn from ovarian cancer patients, in a subset of samples from the MITO16A clinical trial." . _:caa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 398 patients with ovarian cancer enrolled at 47 centres in the single-arm phase IV MITO16A/MaNGO-OV2 trial of first-line carboplatin, paclitaxel and bevacizumab, studied for clinical and biological prognostic factors."; "https://ega-archive.org/studies/EGAS00001008226"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 398; "patients with ovarian cancer enrolled in the phase IV trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11701406/fullTextXML"; rdfs:comment "Among 398 patients enrolled in the MITO‐16A/MaNGO‐OV2 study, the following patients were excluded from the final p53 IHC evaluation: 13 patients because the samples were not available for research; 12 patients who underwent neo‐adjuvant chemotherapy and could not provide treatment‐naïve tissue; 15 because of inadequate tumor sample; 42 because the samples had inadequate morphology for TMA; 5 because tumor samples were exhausted after nucleic acid extraction." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2838; "EGAS00000000102"; "An integrated European Union project that developed methods and tools for discovering biomarkers of diabetes, drawing on sub-studies of the Oxford Biobank (MolOBB) and TwinsUK (MolTWIN)."; "MolPAGE"; ; rdfs:label "Molecular Phenotyping to Accelerate Genomic Epidemiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2838 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2838; "diabetes"; "https://ega-archive.org/studies/EGAS00000000102"; rdfs:comment "MolPAGE is an integrated EU project that aims to develop methods and tools for discovery of biomarkers associated with diabetes (see www.ocdem.ox.ac.uk for MolOBB and www.twinsuk.ac.uk for MolTWIN)." . _:cad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000102"; "Molecular Phenotyping to Accelerate Genomic Epidemiology (MolPAGE)" . _:cae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An integrated European Union project that developed methods and tools for discovering biomarkers of diabetes, drawing on sub-studies of the Oxford Biobank (MolOBB) and TwinsUK (MolTWIN)."; "https://ega-archive.org/studies/EGAS00000000102"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:caf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MolPAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2843; , , , ; "EGAS00000000083"; "A collection of about 2,000 primary breast tumours with long-term clinical follow-up from tumour banks in the United Kingdom and Canada, profiled for copy number and gene expression to derive a molecular stratification of breast cancer."; 2000; "METABRIC"; ; rdfs:label "Molecular Taxonomy of Breast Cancer International Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2843 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2843; "breast cancer"; "https://ega-archive.org/studies/EGAS00000000083"; rdfs:comment "We present an integrated analysis of copy number and gene expression in a discovery and validation set of 997 and 995 primary breast tumours, respectively, with long-term clinical follow-up." . _:cb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of about 2,000 primary breast tumours with long-term clinical follow-up from tumour banks in the United Kingdom and Canada, profiled for copy number and gene expression to derive a molecular stratification of breast cancer."; "https://ega-archive.org/studies/EGAS00000000083"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "primary breast tumour specimens from UK and Canadian tumour banks (stated as 'over 2,000'; one tumour per patient not stated), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3440846/fullTextXML"; rdfs:comment "We assembled a collection of over 2,000 clinically annotated primary fresh-frozen breast cancer specimens from tumour banks in the UK and Canada ( Supplementary Tables 1 – 3 )." . _:cb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METABRIC"; . a owl:NamedIndividual, ; "EGAS00000000137"; "A family panel of British nuclear families ascertained through a child with eczema, whose genome-wide SNP genotypes and whole-genome expression profiles extended the MRCA family panel's map of expression quantitative trait loci."; 950; "MRCE"; ; rdfs:label "MRCE family panel"@en . _:cb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000137"; "MRCA and MRCE SNP genotypes" . _:cb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family panel of British nuclear families ascertained through a child with eczema, whose genome-wide SNP genotypes and whole-genome expression profiles extended the MRCA family panel's map of expression quantitative trait loci."; "PMID:23345460", "https://ega-archive.org/studies/EGAS00000000137"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 950; "individuals from 320 British families in the MRCE panel, genotyped (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3613588/fullTextXML"; rdfs:comment "The second sample (MRCE) of 950 individuals from 320 families of British descent was genotyped using the Illumina Sentrix HumanHap300 Genotyping BeadChip." . _:cb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRCE"; . a owl:NamedIndividual, ; , ; ; "EGAS50000000144"; "A longitudinal sub-study of 335 TwinsUK women from the Multiple Tissue Human Expression Resource, seen at three or more clinical visits over up to nine years with repeated whole-blood gene expression and serum metabolite profiling to characterise molecular ageing."; 335; ; rdfs:label "MultiMuTHER"@en . _:cb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13392353/fullTextXML"; rdfs:comment "The heritability scores were derived from the MultiMuTHER study (a subset of TwinsUK), consisting of 335 European participants from the UK" . _:cb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal sub-study of 335 TwinsUK women from the Multiple Tissue Human Expression Resource, seen at three or more clinical visits over up to nine years with repeated whole-blood gene expression and serum metabolite profiling to characterise molecular ageing."; "https://ega-archive.org/studies/EGAS50000000144"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 335; "TwinsUK women with longitudinal whole-blood expression and metabolite profiles (2026)"; "PMID:42691178"; rdfs:comment "We profiled longitudinal whole-blood gene expression and metabolite levels in 335 females over 8 years." . a owl:NamedIndividual, ; , ; ; "EGAS00001001569"; "A sub-cohort of adult female TwinsUK participants from whom adipose, skin, lymphoblastoid cell line and blood samples were collected to map genetic and epigenetic regulation of gene expression across tissues."; 856; "MuTHER"; ; rdfs:label "Multiple Tissue Human Expression Resource"@en . _:cbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9942974/fullTextXML"; rdfs:comment "The study included 856 female twins from the TwinsUK registry [27,55] who participated in the MuTHER study [52]." . _:cbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001569"; "Population whole-genome bisulfite sequencing across two tissues highlights environment as principal source of human methylome variation" . _:cbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-cohort of adult female TwinsUK participants from whom adipose, skin, lymphoblastoid cell line and blood samples were collected to map genetic and epigenetic regulation of gene expression across tissues."; "https://ega-archive.org/studies/EGAS00001001569"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 856; "female TwinsUK twins recruited to MuTHER"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3784328/fullTextXML"; rdfs:comment "In total of 856 female twins (154 monozygotic (MZ) twin pairs, 232 dizygotic (DZ) twin pairs and 84 singletons) aged 38.7-84.6 years were recruited from the TwinsUK resource 17and adipose (subcutaneous fat) and skin tissue biopsies as well as peripheral blood samples (for generation of lymphoblastoid cell lines or LCLs) were collected for subsequent genome-wide expression profiling." . _:cbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MuTHER"; . a owl:NamedIndividual, ; "EGAS00001007710"; "A pre-clinical validation study of a pharmacogenomic genotyping workflow on the Illumina Global Screening Array, performed on 73 reference cell lines from the Genome in a Bottle, GeT-RM and 1000 Genomes collections rather than on recruited participants."; ; rdfs:label "Nala GSI GSAv3 PGx Study"@en . _:cc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007710"; "Nala GSI GSAv3 PGx Study" . _:cc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pre-clinical validation study of a pharmacogenomic genotyping workflow on the Illumina Global Screening Array, performed on 73 reference cell lines from the Genome in a Bottle, GeT-RM and 1000 Genomes collections rather than on recruited participants."; "https://ega-archive.org/studies/EGAS00001007710"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2862, _:genid-371333f489424440b12a13b9d98ced822608-genid2864; , , ; "EGAS00001007722"; "A cohort of Chinese patients with and without bladder or lung cancer, exposed to diesel exhaust or polycyclic aromatic hydrocarbons, who provided buccal and urothelial cells for duplex sequencing of somatic mutations in a collaboration between the United States National Cancer Institute and IARC."; "NCI China", "NCI China Cohort"; ; rdfs:label "NCI China cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2864 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2862; "diesel exhaust fumes"; "https://ega-archive.org/studies/EGAS00001007722"; rdfs:comment "These patients have been exposed to diesel exhaust fumes." . _:cc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2864; "bladder cancer"; "https://ega-archive.org/studies/EGAS00001007722"; rdfs:comment "This cohort consists of patients with, and without, bladder cancer who have provided buccal swabs." . _:cc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007722"; "Exome_NanoSeq__China_NCI_DEE_buccal_cells_" . _:cc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Chinese patients with and without bladder or lung cancer, exposed to diesel exhaust or polycyclic aromatic hydrocarbons, who provided buccal and urothelial cells for duplex sequencing of somatic mutations in a collaboration between the United States National Cancer Institute and IARC."; "https://ega-archive.org/studies/EGAS00001007722"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2868; , , ; "EGAS00001007728"; "A cohort of patients in Taiwan with and without oral cancer, dysplasia and risk factors for oral cancer who provided buccal cells for duplex sequencing of somatic mutations in a collaboration between the United States National Cancer Institute and IARC."; "NCI Taiwan Cohort"; ; rdfs:label "NCI Taiwan cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2868 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2868; "oral cancer"; "https://ega-archive.org/studies/EGAS00001007728"; rdfs:comment "This cohort consists of patients with, and without, oral cancer, in addition to dysplasia and risk factors for oral cancer." . _:cc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007728"; "Targeted_NanoSeq__Taiwan_NCI_buccal_cells_" . _:cc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients in Taiwan with and without oral cancer, dysplasia and risk factors for oral cancer who provided buccal cells for duplex sequencing of somatic mutations in a collaboration between the United States National Cancer Institute and IARC."; "https://ega-archive.org/studies/EGAS00001007728"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2872; "EGAS00001007563"; "A cohort of women with HER2-positive breast cancer enrolled in the NeoALTTO phase III trial of neoadjuvant paclitaxel with trastuzumab and/or lapatinib, whose tumour B and T cell receptor repertoires were profiled to identify prognostic immune features."; 455; "Neoadjuvant Lapatinib and/or Trastuzumab Treatment Optimisation trial"; ; rdfs:label "NeoALTTO"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2872 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2872; "HER2-positive breast cancer"; "https://ega-archive.org/studies/EGAS00001007563"; rdfs:comment "in the context of two phase III trials, namely NeoALTTO and CALGB 40601, evaluating neoadjuvant paclitaxel with trastuzumab and/or lapatinib in women affected by HER2-positive breast cancer." . _:cca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007563"; "Immune and clinicopathological features predict HER2-positive breast cancer prognosis in the neoadjuvant NeoALTTO and CALGB 40601 trials" . _:ccb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women with HER2-positive breast cancer enrolled in the NeoALTTO phase III trial of neoadjuvant paclitaxel with trastuzumab and/or lapatinib, whose tumour B and T cell receptor repertoires were profiled to identify prognostic immune features."; "https://ega-archive.org/studies/EGAS00001007563"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ccc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 455; "patients randomised in the NeoALTTO trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10624889/fullTextXML"; rdfs:comment "The NeoALTTO phase III trial randomized 455 HER2-positive early-stage BC patients to receive neoadjuvant trastuzumab (T), lapatinib (L) or T + L1,3,4." . a owl:NamedIndividual, ; , , , ; , ; "EGAS00001004870"; "A National Institute for Health and Care Research resource of volunteers in England recallable by genotype and phenotype, including blood donors and patients with common and rare diseases, whose genotype data support health research."; 250000; "NIHR BioResource Common Disease Patients 2016"; ; rdfs:label "NIHR BioResource"@en . _:ccd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004870"; rdfs:comment "Genomic data includes 845487 snps collected using the UK BioBank V1 Affymetrix array." . _:cce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004870"; "NIHR BioResource Common Disease Patients 2016" . _:ccf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A National Institute for Health and Care Research resource of volunteers in England recallable by genotype and phenotype, including blood donors and patients with common and rare diseases, whose genotype data support health research."; "https://ega-archive.org/studies/EGAS00001004870"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 250000; "volunteers in the recallable resource (\"over\", a lower bound), 2025"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "The NIHR BioResource is a recallable resource of over 250,000 volunteers, with and without health conditions who have agreed to take part in health-related research." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2881; "EGAS00001001651"; "An international collaboration of the International Cancer Genome Consortium and The Cancer Genome Atlas that analysed more than 2,800 cancer whole genomes from the consortia's projects to identify common patterns of somatic and germline variation in coding and non-coding regions."; 2658; "PCAWG", "Pancancer Analysis of Whole Genomes"; ; rdfs:label "Pan-Cancer Analysis of Whole Genomes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2881 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2881; "cancer"; "https://ega-archive.org/studies/EGAS00001001651"; rdfs:comment "The Pancancer Analysis of Whole Genomes (PCAWG) study is an international collaboration to identify common patterns of mutation in more than 2,800 cancer whole genomes from the International Cancer Genome Consortium." . _:cd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001651"; "PanCancer Analysis of Whole Genomes (OLD)" . _:cd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaboration of the International Cancer Genome Consortium and The Cancer Genome Atlas that analysed more than 2,800 cancer whole genomes from the consortia's projects to identify common patterns of somatic and germline variation in coding and non-coding regions."; "https://ega-archive.org/studies/EGAS00001001651"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2658; "cancer donors (white- and grey-listed) in the 2020 PCAWG marker paper (2014)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7025898/fullTextXML"; rdfs:comment "Across the 2,658 white- and grey-listed donors, whole-genome sequencing data were available from 2,605 primary tumours and 173 metastases or local recurrences." . _:cd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCAWG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2887, _:genid-371333f489424440b12a13b9d98ced822608-genid2889; , ; "EGAS50000000168"; "A cohort of 21 patients with previously untreated resectable gastric or gastro-oesophageal junction adenocarcinoma treated in the phase 2 PANDA trial with neoadjuvant atezolizumab and chemotherapy, sampled at multiple time points to study the tumour microenvironment."; 21; "phase 2 PANDA trial"; ; rdfs:label "PANDA trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2887 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2889 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2887; "gastroesophageal junction adenocarcinoma"; "https://ega-archive.org/studies/EGAS50000000168"; rdfs:comment "In the phase 2 PANDA trial, patients with previously untreated resectable G/GEJ tumors (n=21) received neoadjuvant treatment with one cycle of atezolizumab monotherapy followed by 4 cycles of atezolizumab plus docetaxel, oxaliplatin and capecitabine." . _:cd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2889; "gastric adenocarcinoma"; "https://ega-archive.org/studies/EGAS50000000168"; rdfs:comment "In the phase 2 PANDA trial, patients with previously untreated resectable G/GEJ tumors (n=21) received neoadjuvant treatment with one cycle of atezolizumab monotherapy followed by 4 cycles of atezolizumab plus docetaxel, oxaliplatin and capecitabine." . _:cd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 21 patients with previously untreated resectable gastric or gastro-oesophageal junction adenocarcinoma treated in the phase 2 PANDA trial with neoadjuvant atezolizumab and chemotherapy, sampled at multiple time points to study the tumour microenvironment."; "https://ega-archive.org/studies/EGAS50000000168"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 21; "patients included in the phase 2 PANDA trial (2024)"; "https://ega-archive.org/studies/EGAS50000000168"; rdfs:comment "A total of 21 patients were included, of whom 20 patients underwent surgery and were evaluable for the secondary pathologic response and survival endpoints, while 19 were evaluable for exploratory translational analyses." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2893; , ; "EGAS00001006959"; "An integrated clinical-molecular rapid autopsy study of men who died of lethal prostate cancer at Johns Hopkins, United States, whose primary and metastatic tumours and normal tissues were collected for sequencing."; 33; "PELICAN33", "PELICAN45", "PELICAN45 Cohort", "Project to ELIminate lethal CANcer"; ; rdfs:label "PELICAN"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2893 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2893; "prostate cancer"; "https://ega-archive.org/studies/EGAS00001006959"; rdfs:comment "To better understand the biology of prostate cancer, we performed RNAseq in cancerous (primary and metastatic) and noncancerous tissues in the PELICAN45 cohort." . _:cdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An integrated clinical-molecular rapid autopsy study of men who died of lethal prostate cancer at Johns Hopkins, United States, whose primary and metastatic tumours and normal tissues were collected for sequencing."; "https://ega-archive.org/studies/EGAS00001006959"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 33; "men who died of metastatic prostate cancer 1995-2004 and consented to rapid autopsy (PELICAN33)"; "PMID:34337548"; rdfs:comment "We analyzed deep longitudinal clinical, neuroendocrine expression, and autopsy data of 33 men who died from mPC between 1995 and 2004 (PELICAN33), and related findings to mPC biomarkers reported in the literature." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2897; , ; "EGAS00001005828"; "A cohort of patients with diffuse large B-cell lymphoma treated in the German PETAL trial of PET-guided therapy, whose tumours were exome and shallow whole-genome sequenced to reproduce biology-based risk profiles."; 609; "PETAL trail", "Positron Emission Tomography-guided Therapy of Aggressive Non-Hodgkin Lymphomas trial"; ; rdfs:label "PETAL trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2897 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2897; "diffuse large B-cell lymphoma"; "https://ega-archive.org/studies/EGAS00001005828"; rdfs:comment "5 biology-based risk profiles could be reproduced in an independent cohort of DLBCL patients, from the PETAL trial." . _:cde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with diffuse large B-cell lymphoma treated in the German PETAL trial of PET-guided therapy, whose tumours were exome and shallow whole-genome sequenced to reproduce biology-based risk profiles."; "https://ega-archive.org/studies/EGAS00001005828"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 609; "DLBCL patients in the PETAL trial's intention-to-treat population"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6700149/fullTextXML"; rdfs:comment "Of 609 DLBCL belonging to the intention-to-treat population of the PETAL trial, 546 (89.7%) were iPET-negative and 63 (10.3%) were iPET-positive 2 ." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2901; "EGAS00001005554"; "A cohort of patients with non-germinal centre B-cell diffuse large B-cell lymphoma enrolled in the phase III PHOENIX trial of ibrutinib with R-CHOP chemotherapy, whose tumours were profiled by RNA sequencing and targeted panel sequencing."; 838; "Pheonix Clinical Trail", "Phoenix Clinical Trial"; ; rdfs:label "PHOENIX trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2901 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ce02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2901; "diffuse large B-cell lymphoma"; "https://ega-archive.org/studies/EGAS00001005554"; rdfs:comment "Clinical impact of ibrutinib plus R-CHOP in untreated DLBCL coexpressing BCL2 and MYC in the phase 3 PHOENIX trial." . _:ce12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with non-germinal centre B-cell diffuse large B-cell lymphoma enrolled in the phase III PHOENIX trial of ibrutinib with R-CHOP chemotherapy, whose tumours were profiled by RNA sequencing and targeted panel sequencing."; "https://ega-archive.org/studies/EGAS00001005554"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ce22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 838; "patients randomised in the PHOENIX trial"; "PMID:30901302"; rdfs:comment "A total of 838 patients were randomly assigned to ibrutinib plus R-CHOP (n = 419) or placebo plus R-CHOP (n = 419)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2905; , ; "EGAS00001004556"; "A cohort of Polish patients with gliomas of WHO grades II to IV whose tumours and matched blood were sequenced with a panel of cancer- and epigenetics-related genes to characterise somatic and germline variants."; 182; "Polish Glioma Cohort"; ; rdfs:label "Polish glioma cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2905 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ce32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2905; "glioma"; "https://ega-archive.org/studies/EGAS00001004556"; rdfs:comment "In four patients from the Polish glioma cohort, we identified a novel recurrent mutation in the TOP2A gene coding for Topoisomerase 2A in glioblastomas (GBM, WHO grade IV gliomas)." . _:ce42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004556"; rdfs:comment "In four patients from the Polish glioma cohort" . _:ce52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Polish patients with gliomas of WHO grades II to IV whose tumours and matched blood were sequenced with a panel of cancer- and epigenetics-related genes to characterise somatic and germline variants."; "https://ega-archive.org/studies/EGAS00001004556"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:ce62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 182; "glioma patients/samples analysed (analysed set, not all Polish), 2020"; "https://www.biorxiv.org/content/10.1101/2020.06.17.158477v1.full"; rdfs:comment "Most of the patients from our cohort suffered from glioblastoma (132/182)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2910, _:genid-371333f489424440b12a13b9d98ced822608-genid2912; , ; "EGAS00001007081"; "A research autopsy programme in the United Kingdom in which patients with advanced cancer consent to post-mortem sampling of primary and metastatic tumours, enabling multi-region sequencing to decipher the evolution of metastasis and therapy resistance."; "PEACE", "PEACE research autopsy study"; ; rdfs:label "Posthumous Evaluation of Advanced Cancer Environment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2910 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ce72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2910; "advanced cancer"; "https://ega-archive.org/studies/EGAS00001007081"; rdfs:comment "Here we present the most comprehensive intra-patient metastatic melanoma dataset assembled to date as part of the PEACE research autopsy programme, including exome, panel-sequenced, RNA-seq, and single-cell whole-genome sequencing samples from 14 ICI-treated patients." . _:ce82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2912; "metastatic melanoma"; "https://ega-archive.org/studies/EGAS00001007081"; rdfs:comment "Here we present the most comprehensive intra-patient metastatic melanoma dataset assembled to date as part of the PEACE research autopsy programme, including exome, panel-sequenced, RNA-seq, and single-cell whole-genome sequencing samples from 14 ICI-treated patients." . _:ce92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research autopsy programme in the United Kingdom in which patients with advanced cancer consent to post-mortem sampling of primary and metastatic tumours, enabling multi-region sequencing to decipher the evolution of metastasis and therapy resistance."; "https://ega-archive.org/studies/EGAS00001007081"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEACE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2916; , ; "EGAS00001007958"; "A cohort of adults with newly diagnosed active Crohn's disease enrolled in the multicentre, biomarker-stratified, randomised PROFILE trial in the United Kingdom, whose stool samples were sequenced to relate the gut microbiome to treatment response."; "The acronym PROFILE also denotes the Genetic Prostate cancer risk stratification for targeted screening study (COHO:0000080); this term is the Crohn's disease trial, which is what the EGA study EGAS00001007958 tagged PROFILE used."@en; 386; "PROFILE", "PROFILE (PRedicting Outcomes For Crohn's disease using a moLecular biomarker)", "PROFILE trial"; ; rdfs:label "PRedicting Outcomes For Crohn's disease using a moLecular biomarker"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2916 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ceb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2916; "Crohn's disease"; "https://ega-archive.org/studies/EGAS00001007958"; rdfs:comment "PROFILE was a multicentre, open-label, biomarker-stratified, randomised controlled trial that enrolled adults with newly diagnosed active Crohn's disease." . _:cec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001007958"; rdfs:comment "Crossreplicate microbiome associations and predictive algorithms in an independent UK-based cohort (IBD-RESPONSE)" . _:ced2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007958"; "PROFILE_Metagenomics" . _:cee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults with newly diagnosed active Crohn's disease enrolled in the multicentre, biomarker-stratified, randomised PROFILE trial in the United Kingdom, whose stool samples were sequenced to relate the gut microbiome to treatment response."; "https://ega-archive.org/studies/EGAS00001007958"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 386; "adults with newly diagnosed Crohn's disease randomised in PROFILE (2022)"; "PMID:38402895"; rdfs:comment "Between Dec 29, 2017, and Jan 5, 2022, 386 patients (mean age 33·6 years [SD 13·2]; 179 [46%] female, 207 [54%] male) were randomised: 193 to the top-down group and 193 to the accelerated step-up group." . _:cf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROFILE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2923, _:genid-371333f489424440b12a13b9d98ced822608-genid2925, _:genid-371333f489424440b12a13b9d98ced822608-genid2927; , ; "EGAS00001002205"; "A prospective cohort of 4,512 nulliparous women with viable singleton pregnancies recruited at the Rosie Hospital, Cambridge, United Kingdom, during 2008–2012 and followed with serial ultrasonography, blood sampling and placental collection to identify biomarkers of adverse pregnancy outcomes."; 4512; "POPS2", "POPs", "POPs2", "The Pregnancy Outcome Prediction Study"; ; rdfs:label "Pregnancy Outcome Prediction study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2923 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2925 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2927 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2923; "fetal growth restriction"; "https://ega-archive.org/studies/EGAS00001002205"; rdfs:comment "The POP study aimed both at evaluating performance of known biomarkers and serial ultrasonography in assessing maternal and fetal well-being, as well as identifying novel biomarkers. The study is sufficiently large to be powered for relatively uncommon adverse pregnancy outcomes." . _:cf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2925; "preeclampsia"; "https://ega-archive.org/studies/EGAS00001002205"; rdfs:comment "The POP study aimed both at evaluating performance of known biomarkers and serial ultrasonography in assessing maternal and fetal well-being, as well as identifying novel biomarkers. The study is sufficiently large to be powered for relatively uncommon adverse pregnancy outcomes." . _:cf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2927; "adverse pregnancy outcomes"; "https://ega-archive.org/studies/EGAS00001002205"; rdfs:comment "The POP study aimed both at evaluating performance of known biomarkers and serial ultrasonography in assessing maternal and fetal well-being, as well as identifying novel biomarkers. The study is sufficiently large to be powered for relatively uncommon adverse pregnancy outcomes." . _:cf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002205"; rdfs:comment "a prospective cohort study of nulliparous women attending the Rosie Hospital (Cambridge, UK)" . _:cf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 4,512 nulliparous women with viable singleton pregnancies recruited at the Rosie Hospital, Cambridge, United Kingdom, during 2008–2012 and followed with serial ultrasonography, blood sampling and placental collection to identify biomarkers of adverse pregnancy outcomes."; "https://ega-archive.org/studies/EGAS00001002205"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:cf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4512; "nulliparous women with a viable singleton pregnancy, recruited 2008-2012"; "https://ega-archive.org/studies/EGAS00001002205"; rdfs:comment "The study included 4512 women with a viable singleton pregnancy; study participants provided written informed consent and were recruited between January 2008 and July 2012." . _:cf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POPS2"; . _:cf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POPs"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2934, _:genid-371333f489424440b12a13b9d98ced822608-genid2936; , ; ; "EGAS00001000052"; "A collection of pedigrees with premature atherosclerosis from the Amsterdam Medical Center, exome sequenced to identify rare genetic variants contributing to cardiovascular disease."; "The acronym AMC-PAS also denotes Academic Medical Center Amsterdam Premature Atherosclerosis Study (COHO:0000463); this term is Premature Atherosclerosis Study pedigrees."@en; "AMC-PAS", "PAS pedigrees"; ; rdfs:label "Premature Atherosclerosis Study pedigrees"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2934 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2936 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2934; "premature atherosclerosis"; "https://ega-archive.org/studies/EGAS00001000052"; rdfs:comment "PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis." . _:cfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2936; "cardiovascular disease"; "https://ega-archive.org/studies/EGAS00001000052"; rdfs:comment "PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis." . _:cfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://metadata.ega-archive.org/studies/EGAS00001000052"; rdfs:comment "Over the last two years pedigree histories have been compiled from the AMC-PAS cohort and so far ten families have been identified with evidence of autosomal inheritance of CVD without any known monogenic causes of CVD." . _:cfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000052"; "PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis." . _:cfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of pedigrees with premature atherosclerosis from the Amsterdam Medical Center, exome sequenced to identify rare genetic variants contributing to cardiovascular disease."; "https://ega-archive.org/studies/EGAS00001000052"; "Claude Fable 5.1 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2941, _:genid-371333f489424440b12a13b9d98ced822608-genid2943; , , ; "EGAS00001007346"; "A cohort of people with a first demyelinating event randomised in the phase IIb PrevANZ trial in Australia and New Zealand to daily oral vitamin D3 or placebo, with blood transcriptomes at baseline and 12 weeks to investigate prevention of multiple sclerosis."; 204; "PrevANZ"; ; rdfs:label "PrevANZ trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2941 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2943 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:cfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2941; "multiple sclerosis"; "https://ega-archive.org/studies/EGAS00001007346"; rdfs:comment "The PrevANZ trial, a phase IIb randomized placebo-controlled trial of oral vitamin D3 supplementation in people with a first demyelinating event (FDE), was conducted to determine if supplementation can prevent recurrent disease activity in this cohort at high risk of developing definite MS." . _:cff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2943; "first demyelinating event"; "https://ega-archive.org/studies/EGAS00001007346"; rdfs:comment "The PrevANZ trial, a phase IIb randomized placebo-controlled trial of oral vitamin D3 supplementation in people with a first demyelinating event (FDE), was conducted to determine if supplementation can prevent recurrent disease activity in this cohort at high risk of developing definite MS." . _:d002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with a first demyelinating event randomised in the phase IIb PrevANZ trial in Australia and New Zealand to daily oral vitamin D3 or placebo, with blood transcriptomes at baseline and 12 weeks to investigate prevention of multiple sclerosis."; "https://ega-archive.org/studies/EGAS00001007346"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 204; "people with a clinically isolated syndrome enrolled in PrevANZ (2021)"; "PMID:38085047"; rdfs:comment "Between 2013 and 2021, we enrolled 204 participants." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2947, _:genid-371333f489424440b12a13b9d98ced822608-genid2949, _:genid-371333f489424440b12a13b9d98ced822608-genid2951; , ; ; "EGAS00001006240"; "A Dutch birth cohort of children born in 1996–1997 followed from pregnancy into adulthood to investigate the prevention and incidence of asthma and mite allergy, with nasal gene expression and epigenetic data collected in adolescence."; 3963; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PIAMA"; "PIAMA", "PIAMA birth cohort", "PULMOLINES - PIAMA"; , ; rdfs:label "Prevention and Incidence of Asthma and Mite Allergy"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid2947 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2949 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2951 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2947; "house dust mite allergen (RCT on the use of bed-covers)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PIAMA"; rdfs:comment "Birth cohort in Utrecht, Rotterdam and Groningen with RCT on the use of bed-covers in the first years" . _:d032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2949; "mite allergy" . _:d042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2951; "asthma" . _:d052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001006240"; "PIAMA nasal RNAseq data" . _:d062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch birth cohort of children born in 1996–1997 followed from pregnancy into adulthood to investigate the prevention and incidence of asthma and mite allergy, with nasal gene expression and epigenetic data collected in adolescence."; "https://ega-archive.org/studies/EGAS00001006240"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3963; "newborns at the start of the birth cohort (recruited 1996-1997)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41180-2/MediaObjects/41467_2023_41180_MOESM1_ESM.pdf"; rdfs:comment "The study started with 3,963 newborns." . _:d082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIAMA"; . _:d092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PULMOLINES - PIAMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2958; , ; "EGAS00001004792"; "A cohort of 81 acute myeloid leukaemia patients whose viably frozen samples from the Leukemia Tissue Bank at Princess Margaret Cancer Centre, Toronto, engraft in immunodeficient mice and were profiled by RNA sequencing."; 81; "PMCC AML cohort"; ; rdfs:label "Princess Margaret Cancer Centre acute myeloid leukemia patient cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2958 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2958; "acute myeloid leukemia"; "https://ega-archive.org/studies/EGAS00001004792"; rdfs:comment "The PMCC AML RNAseq dataset consists of 81 AML patient samples (clinical data in Supplemental Table 11 of manuscript), processed in two batches." . _:d0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001004792"; rdfs:comment "Leukemia Tissue Bank at Princess Margaret Cancer Centre/ University Health Network" . _:d0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004792"; "RNA-seq study of a Princess Margaret Cancer Centre human acute myeloid leukemia patient cohort" . _:d0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 81 acute myeloid leukaemia patients whose viably frozen samples from the Leukemia Tissue Bank at Princess Margaret Cancer Centre, Toronto, engraft in immunodeficient mice and were profiled by RNA sequencing."; "https://ega-archive.org/studies/EGAS00001004792"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 81; "AML patient samples RNA-sequenced (analysed subset of the Leukemia Tissue Bank)"; "https://ega-archive.org/studies/EGAS00001004792"; rdfs:comment "The PMCC AML RNAseq dataset consists of 81 AML patient samples (clinical data in Supplemental Table 11 of manuscript), processed in two batches." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2964; "EGAS00001007321"; "A cohort of 110 children from 70 families whose fathers were exposed to ionizing radiation as radar technicians, whole-genome sequenced to look for transgenerational signatures of paternal radiation exposure."; "Radar also names the Dutch adolescent study Research on Adolescent Development and Relationships (COHO:0000147); this term is the cohort of children of radiation-exposed radar technicians in the EGA study EGAS00001007321."@en; 110; "Radar"; ; rdfs:label "Radar cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2964 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2964; "paternal exposure to ionizing radiation in radar technicians"; "https://ega-archive.org/studies/EGAS00001007321"; rdfs:comment "The father in this cohort were exposed to 0-353mSv of ionizing radiation and serve as exposed samples." . _:d102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001007321"; "Possible DNA damage after paternal exposure to ionizing radiation in radar technicians" . _:d112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 110 children from 70 families whose fathers were exposed to ionizing radiation as radar technicians, whole-genome sequenced to look for transgenerational signatures of paternal radiation exposure."; "https://ega-archive.org/studies/EGAS00001007321"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 110; "offspring of former German radar operators (children, not counting parents)"; "PMID:40550869"; rdfs:comment "We recruited 110 offspring of former German radar operators, who were likely to have been exposed to IR (Radar cohort, exposure = 0-353 mGy), and reanalyzed sequencing data of 130 offspring of Chernobyl cleanup workers (CRU, exposure = 0-4080 mGy) from Yeager, et al." . _:d132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Radar"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2970, _:genid-371333f489424440b12a13b9d98ced822608-genid2972, _:genid-371333f489424440b12a13b9d98ced822608-genid2974; , , , , ; "EGAS50000000805"; "A cohort of Ghanaian adults living in rural and urban Ghana and in European cities, followed over time to unravel the causes of cardiovascular disease and its risk factors among African migrants in Europe and non-migrants in sub-Saharan Africa."; 5114; "RODAM", "RODAM study"; ; rdfs:label "Research on Obesity and Diabetes among African Migrants"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2970 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2972 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid2974 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2970; "cardiovascular disease"; "https://ega-archive.org/studies/EGAS50000000805"; rdfs:comment "With this unique approach the RODAM study attempts to unravel the causes of cardiovascular disease and its risk factors among African migrants in Europe and non-migrants sub-Saharan Africa." . _:d152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2972; "diabetes"; "https://ega-archive.org/studies/EGAS50000000805"; rdfs:comment "With this unique approach the RODAM study attempts to unravel the causes of cardiovascular disease and its risk factors among African migrants in Europe and non-migrants sub-Saharan Africa." . _:d162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2974; "obesity"; "https://ega-archive.org/studies/EGAS50000000805"; rdfs:comment "With this unique approach the RODAM study attempts to unravel the causes of cardiovascular disease and its risk factors among African migrants in Europe and non-migrants sub-Saharan Africa." . _:d172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000805"; rdfs:comment "Fecal samples from RODAM participants in rural, urban Ghana and Amsterdam, the Netherlands" . _:d182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000805"; "RODAM cohort" . _:d192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Ghanaian adults living in rural and urban Ghana and in European cities, followed over time to unravel the causes of cardiovascular disease and its risk factors among African migrants in Europe and non-migrants in sub-Saharan Africa."; "https://ega-archive.org/studies/EGAS50000000805"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5114; "Ghanaian participants who completed the RODAM baseline assessment (2012-2015)"; "PMID:36521887"; rdfs:comment "Participants All the participants in the RODAM cross-sectional study that completed the baseline assessment (n=5114) were eligible for the follow-up of which 2165 participants (n=638 from rural-Ghana, n=608 from urban-Ghana, and n=919 Ghanaian migrants in Amsterdam, the Netherlands) were included in the RODAM-Pros cohort study." . _:d1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RODAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2981; "EGAS50000000333"; "A cohort of patients with newly diagnosed activated B-cell diffuse large B-cell lymphoma enrolled in the phase III ROBUST trial of lenalidomide with R-CHOP chemotherapy versus placebo, whose tumours were profiled by RNA and whole-genome sequencing."; 570; "ROBUST Clinical Trial"; ; rdfs:label "ROBUST trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2981 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2981; "diffuse large B-cell lymphoma"; "https://ega-archive.org/studies/EGAS50000000333"; rdfs:comment "The ROBUST clinical trial is a Phase III, randomized, double-blind, placebo-controlled study designed to compare the efficacy and safety of lenalidomide plus R-CHOP chemotherapy (R2-CHOP) versus placebo plus R-CHOP in newly diagnosed Diffuse Large B-cell Lymphoma (DLBCL)." . _:d1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with newly diagnosed activated B-cell diffuse large B-cell lymphoma enrolled in the phase III ROBUST trial of lenalidomide with R-CHOP chemotherapy versus placebo, whose tumours were profiled by RNA and whole-genome sequencing."; "https://ega-archive.org/studies/EGAS50000000333"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 570; "patients with ABC-DLBCL randomised (285 per arm), 2017"; "PMID:33621109"; rdfs:comment "Results A total of 570 patients with ABC-DLBCL (n = 285 per arm) were stratified by International Prognostic Index score, age, and bulky disease, and randomly assigned to R2-CHOP or placebo/R-CHOP." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2985; , ; "EGAS50000001205"; "A prospective multicentre cohort of patients with haematological malignancies and healthy controls recruited by the Istituto Romagnolo per lo Studio dei Tumori in Italy to investigate the immunological response to mRNA SARS-CoV-2 vaccines."; "The acronym CORSA also denotes the Colorectal Cancer Study of Austria (COHO:0000042); this term is the Italian SARS-CoV-2 vaccine response trial, which is what the EGA study EGAS50000001205 tagged CORSA used."@en; 77; "CORSA", "CORSA study", "CORSA trial"; ; rdfs:label "SARS-CoV-2 Vaccine Response in Cancer trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2985 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2985; "hematologic malignancies"; "https://ega-archive.org/studies/EGAS50000001205"; rdfs:comment "This study is part of the CORSA trial (NCT04345315), a prospective multicentric research project conducted by the Istituto Romagnolo per lo Studio dei Tumori “Dino Amadori” to investigate the immunologic response to mRNA SARS-CoV-2 vaccines in patients with hematologic malignancies (HM) and healthy individuals as controls (HC)." . _:d202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000001205"; rdfs:comment "All participants were vaccinated under the Italian national campaign" . _:d212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001205"; "Rituximab-treated lymphoma patients show correlated deficiency in serological and T cell Spike-specific response after SARS-CoV-2 vaccination: insights from the CORSA Study." . _:d222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre cohort of patients with haematological malignancies and healthy controls recruited by the Istituto Romagnolo per lo Studio dei Tumori in Italy to investigate the immunological response to mRNA SARS-CoV-2 vaccines."; "https://ega-archive.org/studies/EGAS50000001205"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 77; "patients with haematological malignancies enrolled April-June 2021 (healthy controls not counted)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13230124/fullTextXML"; rdfs:comment "Results Hematological patients show severe impairment of anti-SARS-CoV-2 antibodies after COVID-19 vaccination The CORSA trial ( NCT04345315 ) enrolled 77 hematological patients from April to June 2021 who received at least one dose of vaccine (73 patients received Comirnaty and 4 received Spikevax)." . _:d242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2992; "PMID:35396579"; "An international consortium that meta-analyses exome sequences of schizophrenia cases and controls contributed by member studies to identify genes in which rare coding variants confer risk of schizophrenia."; 24248; 97322; "SCHEMA"; rdfs:label "Schizophrenia Exome Sequencing Meta-analysis consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2992 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2992; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35396579+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in 10 genes as conferring substantial risk for schizophrenia" . _:d262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35396579"; "Rare coding variants in ten genes confer substantial risk for schizophrenia."; "PMID:35396579" . _:d272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that meta-analyses exome sequences of schizophrenia cases and controls contributed by member studies to identify genes in which rare coding variants confer risk of schizophrenia."; "PMID:35396579"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 24248; "schizophrenia cases and controls in the 2022 exome meta-analysis (no total stated)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9805802/"; rdfs:comment "Here, we generated, aggregated, harmonized variant identification, and meta-analyzed the exome sequences of 24,248 individuals with schizophrenia and 97,322 controls from seven continental populations." . _:d292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 97322; "schizophrenia cases and controls in the 2022 exome meta-analysis (no total stated)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9805802/"; rdfs:comment "Here, we generated, aggregated, harmonized variant identification, and meta-analyzed the exome sequences of 24,248 individuals with schizophrenia and 97,322 controls from seven continental populations." . _:d2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCHEMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid2999; , ; ; "EGAS00001000922"; "A United Kingdom cohort of individuals of European ancestry with severe early-onset obesity, a subset of the Genetics of Obesity Study, used to identify common and rare variants contributing to severe obesity."; 4800; "SCOOP", "SCOOP Cohort", "SCOOP-UK", "Severe Childhood Onset Obesity Project UK", "Severe Childhood Onset Obesity Project United Kingdom"; ; rdfs:label "Severe Childhood Onset Obesity Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid2999 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid2999; "severe early-onset obesity"; "https://ega-archive.org/studies/EGAS00001000922"; rdfs:comment "The SCOOP cohort (PMID: 23563609) is a UK Caucasian subset of the Genetics of ObesityStudy (GOOS) (PMID: 19966786], comprising of individuals with severe early-onset obesity(BMI standard deviation score (SDS) > 3; onset of obesity before the age of 10 years)." . _:d2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000922"; rdfs:comment "The SCOOP cohort (PMID: 23563609) is a UK Caucasian subset of the Genetics of ObesityStudy (GOOS)" . _:d2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000922"; "SCOOP_Human_Core_Exome_Genotyping" . _:d2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United Kingdom cohort of individuals of European ancestry with severe early-onset obesity, a subset of the Genetics of Obesity Study, used to identify common and rare variants contributing to severe obesity."; "https://ega-archive.org/studies/EGAS00001000922"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4800; "British individuals of European ancestry with severe childhood-onset obesity (approximate)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7267775/"; rdfs:comment "The Severe Childhood Onset Obesity Project (SCOOP) cohort (Wheeler et al., 2013), includes ∼4800 British individuals of European ancestry with childhood onset obesity (BMI standard deviation score (SDS) > 3; onset of obesity before the age of 10 years)." . _:d302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOOP"; . _:d312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOOP-UK"; . a owl:NamedIndividual, ; , , ; "EGAS00001003875"; "A collection of 4,810 Singapore Chinese, Malays and Indians whose whole genomes were sequenced in the pilot phase of the SG10K project, a precursor of PRECISE-SG100K, to characterise Asian genetic diversity and improve imputation in Asian populations."; 4810; "SG10K_Pilot"; ; rdfs:label "SG10K Pilot"@en . _:d322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003875"; rdfs:comment "By whole-genome sequencing of 4,810 Singapore Chinese, Malays, and Indians" . _:d332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003875"; "SG10K_Pilot - Large-scale whole-genome sequencing of three diverse Asian populations in Singapore" . _:d342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 4,810 Singapore Chinese, Malays and Indians whose whole genomes were sequenced in the pilot phase of the SG10K project, a precursor of PRECISE-SG100K, to characterise Asian genetic diversity and improve imputation in Asian populations."; "https://ega-archive.org/studies/EGAS00001003875"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4810; "Singapore Chinese, Malays and Indians whole-genome sequenced (2019)"; "PMID:31626772"; rdfs:comment "By whole-genome sequencing of 4,810 Singapore Chinese, Malays, and Indians, we found 98.3 million SNPs and small insertions or deletions, over half of which are novel." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3011, _:genid-371333f489424440b12a13b9d98ced822608-genid3013; , ; "EGAS50000000671"; "A longitudinal cohort study in Norway that aims to stratify neurodegenerative parkinsonisms into biological subtypes using biomarkers, including mitochondrial function in muscle biopsies from people with Parkinson's disease and healthy controls."; 204; 48; 252; "STRAT-PARK initiative"; ; rdfs:label "STRAT-PARK"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3011 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3013 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3011; "Parkinson's disease"; "https://ega-archive.org/studies/EGAS50000000671"; rdfs:comment "This study is part of the STRAT-PARK initiative, a longitudinal cohort study that aims to stratify neurodegenerative parkinsonisms into biological subtypes using a biomarker-based approach (https://doi.org/10.1016/j.pneurobio.2024.102603)." . _:d372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3013; "neurodegenerative parkinsonisms"; "https://ega-archive.org/studies/EGAS50000000671"; rdfs:comment "This study is part of the STRAT-PARK initiative, a longitudinal cohort study that aims to stratify neurodegenerative parkinsonisms into biological subtypes using a biomarker-based approach (https://doi.org/10.1016/j.pneurobio.2024.102603)." . _:d382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort study in Norway that aims to stratify neurodegenerative parkinsonisms into biological subtypes using biomarkers, including mitochondrial function in muscle biopsies from people with Parkinson's disease and healthy controls."; "https://ega-archive.org/studies/EGAS50000000671"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 204; "participants included by March 2023 (recruitment ongoing)"; "PMID:38604582"; rdfs:comment "By March 2023, 252 participants were included, comprising 204 cases and 48 controls." . _:d3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 48; "participants included by March 2023 (recruitment ongoing)"; "PMID:38604582"; rdfs:comment "By March 2023, 252 participants were included, comprising 204 cases and 48 controls." . _:d3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 252; "participants included by March 2023 (recruitment ongoing)"; "PMID:38604582"; rdfs:comment "By March 2023, 252 participants were included, comprising 204 cases and 48 controls." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3019; , ; "EGAS00001003421"; "A collection of survivors of invasive group A streptococcal disease in the United Kingdom, recruited through a patient group or identified from a tissue bank at Imperial College London and genotyped genome-wide to investigate host genetic susceptibility."; 43; "Genetics and Severe Streptococcal Infections", "STREP GENE: Genetics and Severe Streptococcal Infections"; ; rdfs:label "STREP GENE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3019 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3019; "invasive group A streptococcal disease"; "https://ega-archive.org/studies/EGAS00001003421"; rdfs:comment "Those recruited through the patient group had survived an episode of invasive GAS disease at a UK hospital since 1980 with microbiological confirmation obtained either through Public Health England or from the treating hospital." . _:d3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001003421"; rdfs:comment "This study investigated host genetic susceptibility to invasive group A streptococcal disease in the UK." . _:d3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003421"; "STREP GENE: Genetics and Severe Streptococcal Infections" . _:d3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of survivors of invasive group A streptococcal disease in the United Kingdom, recruited through a patient group or identified from a tissue bank at Imperial College London and genotyped genome-wide to investigate host genetic susceptibility."; "https://ega-archive.org/studies/EGAS00001003421"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 43; "invasive GAS cases genotyped and analysed after quality control (2019)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7039814/fullTextXML"; rdfs:comment "Results and Discussion After quality control, we included 43 cases of European ancestry aged less than 65 years without comorbidity ( Supplementary Table 1 )." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3025; , , , ; "EGAS00001007331"; "An H3Africa case-control study of stroke in sub-Saharan Africa that recruits stroke cases and matched controls at hospital and community sites in Ghana and Nigeria to evaluate genetic and environmental risk factors for stroke in people of African ancestry."; 3684; 3684; 7368; "SIREN", "Stroke Investigative Research and Educational Network"; ; rdfs:label "Stroke Investigative Research and Education Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3025 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3025; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10840175/fullTextXML"; rdfs:comment "Herein, we report the findings of the first stroke GWAS performed in an indigenous African population of 3434 subjects (1691 ischemic stroke cases and 1743 stroke-free controls) from the SIREN Study." . _:d422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An H3Africa case-control study of stroke in sub-Saharan Africa that recruits stroke cases and matched controls at hospital and community sites in Ghana and Nigeria to evaluate genetic and environmental risk factors for stroke in people of African ancestry."; "https://ega-archive.org/studies/EGAS00001007331"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3684; "1:1 matched stroke cases and stroke-free controls analysed in a 2026 SIREN report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13169920/fullTextXML"; rdfs:comment "To ensure accurate comparisons and minimize confounding, stroke cases were matched with stroke-free controls at a 1:1 ratio on key demographic factors known to confound stroke epidemiology, including age (± 5 years), sex, and ethnicity, for a total of 7368 participants (3684 cases and 3684 controls) in this study." . _:d442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3684; "1:1 matched stroke cases and stroke-free controls analysed in a 2026 SIREN report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13169920/fullTextXML"; rdfs:comment "To ensure accurate comparisons and minimize confounding, stroke cases were matched with stroke-free controls at a 1:1 ratio on key demographic factors known to confound stroke epidemiology, including age (± 5 years), sex, and ethnicity, for a total of 7368 participants (3684 cases and 3684 controls) in this study." . _:d452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7368; "1:1 matched stroke cases and stroke-free controls analysed in a 2026 SIREN report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13169920/fullTextXML"; rdfs:comment "To ensure accurate comparisons and minimize confounding, stroke cases were matched with stroke-free controls at a 1:1 ratio on key demographic factors known to confound stroke epidemiology, including age (± 5 years), sex, and ethnicity, for a total of 7368 participants (3684 cases and 3684 controls) in this study." . _:d462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIREN"; . a owl:NamedIndividual, ; , ; "EGAS00001002624"; "A cohort of about 1,600 persistently thin, healthy adults with a body mass index below 18 kg/m2 and no chronic disease or eating disorder, recruited through primary care in the United Kingdom from 2005 to investigate the genetic basis of thinness."; 2000; "STILTS"; ; rdfs:label "Study Into Lean and Thin Subjects"@en . _:d472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000923"; rdfs:comment "have been recruited through primary care with the involvement of UKPrimary Care Research Networks (PCRNs)" . _:d482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002624"; "The_genetics_of_thinness_compared_to_obesity" . _:d492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 1,600 persistently thin, healthy adults with a body mass index below 18 kg/m2 and no chronic disease or eating disorder, recruited through primary care in the United Kingdom from 2005 to investigate the genetic basis of thinness."; "https://ega-archive.org/studies/EGAS00001000923"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "UK thin healthy adults in the cohort (approximate), 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6345421/fullTextXML"; rdfs:comment "We were able to take advantage of the UK National Health Service (NHS) research infrastructure to recruit from primary care ( Methods ) using body mass index (BMI: weight in kg/height in metres 2 ) criteria and personal review of individual case files to identify a cohort of approximately 2000 UK European descent thin adults (Study Into Lean and Thin Subjects, STILTS cohort; mean BMI = 17.6 kg/m 2 ) who are well, without medical conditions or eating disorders ( Methods )." . _:d4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STILTS"; . a owl:NamedIndividual, ; , ; ; "EGAS50000000906"; "A whole-genome sequence resource of 1,000 individuals selected as a cross-section of the Swedish population, mostly from the Swedish Twin Registry with a smaller set from the Northern Sweden Population Health Study, providing a national reference of genetic variation."; 1000; ; rdfs:label "SweGen"@en . _:d4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000906"; rdfs:comment "The SweGen project represents a comprehensive map of genetic variation in the Swedish population." . _:d4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS50000000906"; rdfs:comment "whole-genome sequencing data in CRAM-format for 942 individuals from the Swedish Twin Registry" . _:d4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000000906"; "SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population."; "PMID:28832569" . _:d4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A whole-genome sequence resource of 1,000 individuals selected as a cross-section of the Swedish population, mostly from the Swedish Twin Registry with a smaller set from the Northern Sweden Population Health Study, providing a national reference of genetic variation."; "https://ega-archive.org/studies/EGAS50000000906"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "Swedish individuals selected for whole-genome sequencing (2017)"; "PMID:28832569"; rdfs:comment "A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3042; "EGAS00001007145"; "A prospective cohort of patients with multiple sclerosis recruited at European centres by the Sys4MS project, with clinical, imaging and omics data to develop systems medicine models of the disease."; 322; "Sys4MS"; ; rdfs:label "Sys4MS cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3042; "multiple sclerosis"; "https://ega-archive.org/studies/EGAS00001007145"; rdfs:comment "The sys4MS cohort comprises 350 patients with Multiple Sclerosis (MS) and 9 controls, with 2 years of follow-up." . _:d522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of patients with multiple sclerosis recruited at European centres by the Sys4MS project, with clinical, imaging and omics data to develop systems medicine models of the disease."; "https://ega-archive.org/studies/EGAS00001007145"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 322; "consecutive MS patients recruited at four centres (98 healthy controls not counted)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10896787/fullTextXML"; rdfs:comment "Results The Sys4MS cohort We recruited 322 consecutive MS patients (age 41 ± 10 years, 71% female), of which 271 (82%) had Relapsing–Remitting MS (RRMS), and 57 (18%) had Progressive MS (PMS; 28 had SPMS and 29 had PPMS), as well as 98 healthy controls matched by sex and age with the RRMS group (Table 1 )." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3046, _:genid-371333f489424440b12a13b9d98ced822608-genid3048, _:genid-371333f489424440b12a13b9d98ced822608-genid3050, _:genid-371333f489424440b12a13b9d98ced822608-genid3052, _:genid-371333f489424440b12a13b9d98ced822608-genid3054, _:genid-371333f489424440b12a13b9d98ced822608-genid3056; , ; "EGAS00001004593", "PMID:29489755"; "A National Cancer Institute initiative that assembles cohorts of children with hard-to-treat cancers, including leukaemias, neuroblastoma, Wilms tumour and osteosarcoma, for comprehensive molecular characterisation to accelerate the development of markers and therapies."; 1699; "NCI TARGET", "TARGET", "TARGET cohort"; ; rdfs:label "Therapeutically Applicable Research to Generate Effective Treatments"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3046 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3048 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3050 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3052 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3056 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3046; "acute lymphoblastic leukaemia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5854542/"; rdfs:comment "Paired tumour and normal samples of 1,699 pediatric cancers from patients enrolled in Children’s Oncology Group clinical trials were analyzed, including 689 B-lineage acute lymphoblastic leukemias (B-ALL), 267 T-lineage ALL (T-ALL), 210 acute myeloid leukemias (AML), 316 neuroblastoma (NBL), 128 Wilms tumour (WT) and 89 osteosarcoma (OS) (Extended Data Fig. 1a–c)." . _:d552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3048; "neuroblastoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5854542/"; rdfs:comment "Paired tumour and normal samples of 1,699 pediatric cancers from patients enrolled in Children’s Oncology Group clinical trials were analyzed, including 689 B-lineage acute lymphoblastic leukemias (B-ALL), 267 T-lineage ALL (T-ALL), 210 acute myeloid leukemias (AML), 316 neuroblastoma (NBL), 128 Wilms tumour (WT) and 89 osteosarcoma (OS) (Extended Data Fig. 1a–c)." . _:d562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3050; "paediatric cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5854542/"; rdfs:comment "Paired tumour and normal samples of 1,699 pediatric cancers from patients enrolled in Children’s Oncology Group clinical trials were analyzed, including 689 B-lineage acute lymphoblastic leukemias (B-ALL), 267 T-lineage ALL (T-ALL), 210 acute myeloid leukemias (AML), 316 neuroblastoma (NBL), 128 Wilms tumour (WT) and 89 osteosarcoma (OS) (Extended Data Fig. 1a–c)." . _:d572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3052; "osteosarcoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5854542/"; rdfs:comment "Paired tumour and normal samples of 1,699 pediatric cancers from patients enrolled in Children’s Oncology Group clinical trials were analyzed, including 689 B-lineage acute lymphoblastic leukemias (B-ALL), 267 T-lineage ALL (T-ALL), 210 acute myeloid leukemias (AML), 316 neuroblastoma (NBL), 128 Wilms tumour (WT) and 89 osteosarcoma (OS) (Extended Data Fig. 1a–c)." . _:d582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3054; "acute myeloid leukaemia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5854542/"; rdfs:comment "Paired tumour and normal samples of 1,699 pediatric cancers from patients enrolled in Children’s Oncology Group clinical trials were analyzed, including 689 B-lineage acute lymphoblastic leukemias (B-ALL), 267 T-lineage ALL (T-ALL), 210 acute myeloid leukemias (AML), 316 neuroblastoma (NBL), 128 Wilms tumour (WT) and 89 osteosarcoma (OS) (Extended Data Fig. 1a–c)." . _:d592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3056; "Wilms tumour"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5854542/"; rdfs:comment "Paired tumour and normal samples of 1,699 pediatric cancers from patients enrolled in Children’s Oncology Group clinical trials were analyzed, including 689 B-lineage acute lymphoblastic leukemias (B-ALL), 267 T-lineage ALL (T-ALL), 210 acute myeloid leukemias (AML), 316 neuroblastoma (NBL), 128 Wilms tumour (WT) and 89 osteosarcoma (OS) (Extended Data Fig. 1a–c)." . _:d5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001004593"; "Mutation signatures of pediatric acute myeloid leukemia and normal blood progenitors associated with differential patient outcomes."; "PMID:34642666", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7611805/fullTextXML"; rdfs:comment "Next, we combined our pAML genome dataset ( n = 9) with samples of 15 patients from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET; 13 ) initiative." . _:d5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29489755"; "Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours."; "PMID:29489755" . _:d5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A National Cancer Institute initiative that assembles cohorts of children with hard-to-treat cancers, including leukaemias, neuroblastoma, Wilms tumour and osteosarcoma, for comprehensive molecular characterisation to accelerate the development of markers and therapies."; "PMID:29489755"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1699; "paediatric leukaemia and solid tumour cases in the 2018 TARGET pan-cancer analysis"; "PMID:29489755"; rdfs:comment "Here we present a pan-cancer study of somatic alterations, including single nucleotide variants, small insertions or deletions, structural variations, copy number alterations, gene fusions and internal tandem duplications in 1,699 paediatric leukaemias and solid tumours across six histotypes, with whole-genome, whole-exome and transcriptome sequencing data processed under a uniform analytical framework." . _:d5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TARGET"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3063; , ; "EGAS00001002247"; "A prospective cohort of patients with early-stage non-small cell lung cancer recruited across the United Kingdom, whose tumours are sampled in multiple regions before and through therapy to investigate intratumour heterogeneity and clonal evolution in relation to outcome."; 814; "TRAcking Cancer Evolution through therapy", "TRAcking non-small cell lung Cancer Evolution through therapy"; ; rdfs:label "TRACERx"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3063 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3063; "non-small cell lung cancer"; "https://ega-archive.org/studies/EGAS00001002247"; rdfs:comment "TRACERx (TRAcking Cancer Evolution through therapy (Rx)) is a prospective cohort study designed to investigate intratumor heterogeneity (ITH) in relation to clinical outcome, and to determine the clonal nature of driver events and evolutionary processes in early stage non-small cell lung cancer (NSCLC)." . _:d602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002247"; "Tracking the Evolution of Non-Small-Cell Lung Cancer."; "PMID:28445112" . _:d612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of patients with early-stage non-small cell lung cancer recruited across the United Kingdom, whose tumours are sampled in multiple regions before and through therapy to investigate intratumour heterogeneity and clonal evolution in relation to outcome."; "https://ega-archive.org/studies/EGAS00001002247"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 814; "patients enrolled (actual enrolment in the trial registry record), 2026"; "https://clinicaltrials.gov/api/v2/studies/NCT01888601"; rdfs:comment "\"enrollmentInfo\":{\"count\":814,\"type\":\"ACTUAL\"}" . a owl:NamedIndividual, ; , ; "EGAS00001006257"; "A single-centre prospective cohort study and biobank at the University Medical Center Groningen, the Netherlands, of recipients of all types of solid organ transplant and of living organ donors, with gut microbiome characterisation linked to clinical phenotypes."; 5143; ; rdfs:label "TransplantLines"@en . _:d632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre prospective cohort study and biobank at the University Medical Center Groningen, the Netherlands, of recipients of all types of solid organ transplant and of living organ donors, with gut microbiome characterisation linked to clinical phenotypes."; "https://ega-archive.org/studies/EGAS00001006257"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5143; "participants (transplant recipients, candidates and donors) as of October 2024"; "PMID:40601244"; rdfs:comment "TransplantLines, initiated in 2015, consists of 5143 participants as of October 2024, among 2312 (45%) females." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3070; , , , , , , , , , ; "EGAS00001002602"; "An H3Africa collection of cases, controls and latent infections from seven populations of Uganda, the Democratic Republic of the Congo, Ivory Coast, Guinea, Cameroon and Zambia where trypanosomiasis is endemic, sequenced to discover genetic variants associated with responses to sleeping sickness infection."; 3813; "TrypanoGEN project"; ; rdfs:label "TrypanoGEN"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3070 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3070; "human African trypanosomiasis (sleeping sickness)"; "https://ega-archive.org/studies/EGAS00001002602"; rdfs:comment "The samples included 182 controls, 97 cases, 17 latent infections and 3 suspect cases." . _:d662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002602"; rdfs:comment "Nilo-Saharan speakers from North-West Uganda and Niger-Congo speakers from South-East Uganda, DRC, Ivory Coast, Guinea, Cameroon and Zambia" . _:d672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002602"; "H3Africa - An integrated approach to the identification of genetic determinants of susceptibility to trypanosomiasis" . _:d682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An H3Africa collection of cases, controls and latent infections from seven populations of Uganda, the Democratic Republic of the Congo, Ivory Coast, Guinea, Cameroon and Zambia where trypanosomiasis is endemic, sequenced to discover genetic variants associated with responses to sleeping sickness infection."; "https://ega-archive.org/studies/EGAS00001002602"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3813; "samples (one per individual) used in the 2024 TrypanoGEN GWAS, discovery plus validation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=TITLE%3A%22Genome-Wide+Association+Study+Reveals+Novel+Genetic+Markers+Associated+with+Human+African+Trypanosomiasis%22&format=json&resultType=core"; rdfs:comment "We have undertaken a genome wide association study (GWAS) using 3813 samples from T. b. gambiense and T.b. rhodesiense HAT foci in Guinea, Côte d’Ivoire, Cameroon, DRC, Malawi and Uganda." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3076; , ; "EGAS50000000577"; "An observational Swiss study that applied multi-omic and functional tumour profiling to samples from patients with metastatic melanoma, metastatic epithelial ovarian cancer and acute myeloid leukaemia to assess the value of in-depth profiling for clinical decision support."; "TuPro", "Tumor Profiler Study", "Tumour Profiler Study"; ; rdfs:label "Tumor Profiler"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3076 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3076; "acute myeloid leukaemia"; "https://ega-archive.org/studies/EGAS50000000577"; rdfs:comment "The dataset contains bulk transcriptomics data from 23 patients with Acute Myeloid Leukemia (AML)." . _:d6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational Swiss study that applied multi-omic and functional tumour profiling to samples from patients with metastatic melanoma, metastatic epithelial ovarian cancer and acute myeloid leukaemia to assess the value of in-depth profiling for clinical decision support."; "https://ega-archive.org/studies/EGAS50000000577"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TuPro"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3080; , ; "EGAS00001001460"; "A consortium of United States and United Kingdom groups that sequenced the exomes of 6,546 type 2 diabetes cases and 6,457 controls of African American, East Asian, South Asian, Hispanic and European ancestry, drawn from member cohorts, to assess common, low-frequency and rare variants in diabetes risk."; 6504; 6436; 12940; "T2D-GENES"; ; rdfs:label "Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3080 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3080; "type 2 diabetes"; "https://ega-archive.org/studies/EGAS00001001460"; rdfs:comment "The T2D-GENES/GoT2D 13K exome sequencing study includes ~13,000 samples, half T2D cases and half T2D controls, from five ancestries (~5K Europeans, ~2K each of African-American, East-Asian, South-Asian, and Hispanic)." . _:d6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002937"; rdfs:comment "GoDARTS T2D-GENES Exome Sequencing Study is a subset of the ~52,000 Type 2 diabetes exome sequencing project." . _:d6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4145406/unicode"; rdfs:comment "From the SAFS families, 20 large pedigrees, consisting of 1043 individuals, were selected for T2D-GENES Project 2 by focusing on large lineages to maximize the number of potential copies of founder alleles and to get an optimal ratio of sequencing efficiency and number of individuals with type 2 diabetes." . _:d702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001460"; "The genetic architecture of type 2 diabetes."; "PMID:27398621" . _:d712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of United States and United Kingdom groups that sequenced the exomes of 6,546 type 2 diabetes cases and 6,457 controls of African American, East Asian, South Asian, Hispanic and European ancestry, drawn from member cohorts, to assess common, low-frequency and rare variants in diabetes risk."; "https://ega-archive.org/studies/EGAS00001001460"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6504; "T2D cases and controls in the joint T2D-GENES/GoT2D exome data set after QC (2016)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5034897/unicode"; rdfs:comment "This created a joint data set (after all QC) comprised of 12,940 individuals (6,504 cases; 6,436 controls) drawn from five ancestry groups: 4,541 of European origin, and ~2,000 [range: 1,943-2,217] each of South Asian, East Asian, Hispanic, and African American origin (Extended Data Fig. 1; Extended Data Table 2; Supplementary 4)." . _:d732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6436; "T2D cases and controls in the joint T2D-GENES/GoT2D exome data set after QC (2016)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5034897/unicode"; rdfs:comment "This created a joint data set (after all QC) comprised of 12,940 individuals (6,504 cases; 6,436 controls) drawn from five ancestry groups: 4,541 of European origin, and ~2,000 [range: 1,943-2,217] each of South Asian, East Asian, Hispanic, and African American origin (Extended Data Fig. 1; Extended Data Table 2; Supplementary 4)." . _:d742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12940; "T2D cases and controls in the joint T2D-GENES/GoT2D exome data set after QC (2016)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5034897/unicode"; rdfs:comment "This created a joint data set (after all QC) comprised of 12,940 individuals (6,504 cases; 6,436 controls) drawn from five ancestry groups: 4,541 of European origin, and ~2,000 [range: 1,943-2,217] each of South Asian, East Asian, Hispanic, and African American origin (Extended Data Fig. 1; Extended Data Table 2; Supplementary 4)." . _:d752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T2D-GENES"; . a owl:NamedIndividual, ; , , ; , ; "EGAS00001001558"; "A population-based cohort of about 6,400 individuals from a geographically defined rural community in south-west Uganda, established in 1989 and genotyped and sequenced by the African Partnership for Chronic Disease Research as the Uganda Genome Resource."; "The acronym GPC also denotes Genetics of Personality Consortium (COHO:0000461); this term is Uganda General Population Cohort."@en; 22000; "APCDR Uganda", "GPC", "MRC/UVRI GPC", "UGR", "UVRIGPC", "Uganda General Population Cohort/Uganda Genome Resource/ MRC Uganda", "Uganda Genome Resource", "Ugandan General Population Cohort", "Ugandan Genome Resource"; , ; rdfs:label "Uganda General Population Cohort"@en . _:d762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000545"; rdfs:comment "a population-based study of 6,400 individuals from a geographically defined rural community in South-West Uganda" . _:d772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001001558"; "APCDR Uganda GWAS: Genome-wide sequence variation and susceptibility loci for cardiometabolic traits in a sub-Saharan African population (UGWAS component)" . _:d782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 6,400 individuals from a geographically defined rural community in south-west Uganda, established in 1989 and genotyped and sequenced by the African Partnership for Chronic Disease Research as the Uganda Genome Resource."; "https://ega-archive.org/studies/EGAS00001000545"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22000; "individuals in the open population cohort (stated as 'over 22,000', a lower bound)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10543268/fullTextXML"; rdfs:comment "The General Population Cohort (GPC) is an open population-based cohort of over 22,000 individuals living in rural south-western Uganda [ 29 ]." . _:d7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GPC"; . _:d7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRC/UVRI GPC"; . _:d7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UGR"; . _:d7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UVRIGPC"; . _:d7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Uganda General Population Cohort/Uganda Genome Resource/ MRC Uganda"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3099, _:genid-371333f489424440b12a13b9d98ced822608-genid3101; , ; "EGAS00001000079"; "A collection of families from across the United Kingdom with at least two siblings affected by premature coronary artery disease (myocardial infarction, angina verified by exercise testing or angiography, or coronary revascularisation before the 66th birthday, each verified from hospital or general practice records), recruited from April 1998 to November 2003 with British Heart Foundation funding through the media and general practices, after a pilot phase using the coronary disease databases of the lead centres in Leeds and Leicester, to study the genetic basis of premature coronary artery disease; affected siblings, and unaffected siblings where available, were interviewed by telephone and gave blood for DNA."; 6285; "BHF Family Heart Study", "BHF-FHS", "UK BHF CAD/MI cohort"; ; rdfs:label "British Heart Foundation Family Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3099 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3101 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3099; "premature coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16380912+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the genetic determinants of premature CAD by performing a genomewide linkage analysis of 4,175 affected subjects from 1,933 families recruited throughout the United Kingdom. Each family had at least two available siblings with CAD, with validated onset before age 66 years." . _:d802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3101; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16380912+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the genetic determinants of premature CAD by performing a genomewide linkage analysis of 4,175 affected subjects from 1,933 families recruited throughout the United Kingdom. Each family had at least two available siblings with CAD, with validated onset before age 66 years." . _:d812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000079"; "Cardiogenics_re_sequencing" . _:d822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of families from across the United Kingdom with at least two siblings affected by premature coronary artery disease (myocardial infarction, angina verified by exercise testing or angiography, or coronary revascularisation before the 66th birthday, each verified from hospital or general practice records), recruited from April 1998 to November 2003 with British Heart Foundation funding through the media and general practices, after a pilot phase using the coronary disease databases of the lead centres in Leeds and Leicester, to study the genetic basis of premature coronary artery disease; affected siblings, and unaffected siblings where available, were interviewed by telephone and gave blood for DNA."; "PMID:16380912", "PMID:21966275", "PMID:22325189"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:d832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6285; "subjects collected (affected and unaffected siblings), 1998-2003"; "https://europepmc.org/api/getPdf?pmcid=PMC1285159"; rdfs:comment "In total, we collected 6,285 subjects." . _:d842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHF-FHS"; . a owl:NamedIndividual, ; , ; , , ; "EGAS00001002336"; "A collection of blood donors recruited through the UK Blood Services as a population control set for the Wellcome Trust Case Control Consortium and later genetic association studies."; "The acronym NBS also denotes Nijmegen Biomedical Study (COHO:0000128); this term is UK Blood Service Control Group."@en; 3622; "NBBS", "NBS", "NBS_UK", "National Blood Bank Service", "National Blood Service", "National Blood Survey cohort", "National blood service", "UK Blood Service", "UK Blood Services controls", "UK National Blood Service controls", "UKBS"; ; rdfs:label "UK Blood Service Control Group"@en . _:d852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001002336"; rdfs:comment "Controls used were data from the Wellcome Trust Case Control Consortium 2 (WTCCC2) 1958 birth cohort and the UK Blood Service Control Group" . _:d862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001002336"; "Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer."; "PMID:23184150" . _:d872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of blood donors recruited through the UK Blood Services as a population control set for the Wellcome Trust Case Control Consortium and later genetic association studies."; "https://ega-archive.org/studies/EGAS00001002336"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3622; "consenting blood donors in the UK Blood Services repository set up for the WTCCC"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "The latter collection was established specifically for this study and is a UK national repository of anonymized DNA samples from 3,622 consenting blood donors." . _:d892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBBS"; . _:d8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBS"; . _:d8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBS_UK"; . _:d8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "National blood service"; . _:d8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBS"; . a owl:NamedIndividual, ; , , , ; , ; "EGAS00001000090"; "A project that sequenced the genomes of 4,000 participants of the TwinsUK and ALSPAC cohorts and the exomes of 6,000 individuals selected for extreme phenotypes and rare diseases, to find low-frequency and rare variants contributing to disease in the United Kingdom."; 10000; ; rdfs:label "UK10K"@en . _:d8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000090"; rdfs:comment "obtaining the genome-wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts" . _:d8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000090"; rdfs:comment "obtaining the genome-wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts" . _:d902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000124"; rdfs:comment "UK10K_OBESITY_SCOOP" . _:d912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00001000101"; rdfs:comment "UK10K_RARE_NEUROMUSCULAR" . _:d922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000090"; "Estimating genome-wide significance for whole-genome sequencing studies."; "PMID:24676807" . _:d932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A project that sequenced the genomes of 4,000 participants of the TwinsUK and ALSPAC cohorts and the exomes of 6,000 individuals selected for extreme phenotypes and rare diseases, to find low-frequency and rare variants contributing to disease in the United Kingdom."; "https://ega-archive.org/studies/EGAS00001000090"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10000; "individuals whole-genome or exome sequenced, stated as 'nearly 10,000' (2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4773891/fullTextXML"; rdfs:comment "Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3123; , ; ; "EGAS00001000101"; "A collection of patients with rare neuromuscular disorders, contributed by Francesco Muntoni's group, that formed part of the rare disease arm of the UK10K project and was exome and genome sequenced to find causal variants."; 140; "The Rare Neuromuscular Disorders cohort", "UK10K_RARE_NEUROMUSCULAR"; ; rdfs:label "UK10K Rare Neuromuscular Disorders cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3123 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3123; "rare neuromuscular disorders"; "https://ega-archive.org/studies/EGAS00001000101"; rdfs:comment "The neuromuscular disorder samples are part of the “rare disease” group, and will undergo exome sequencing." . _:d962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001000101"; "Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan."; "PMID:23768512" . _:d972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with rare neuromuscular disorders, contributed by Francesco Muntoni's group, that formed part of the rare disease arm of the UK10K project and was exome and genome sequenced to find causal variants."; "https://ega-archive.org/studies/EGAS00001000101"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 140; "samples in the latest EGA release of the dataset (REL-2013-04-20)"; "https://ega-archive.org/studies/EGAS00001000101"; rdfs:comment "EGAD00001000418 UK10K_RARE_NEUROMUSCULAR REL-2013-04-20 Illumina HiSeq 2000 140" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3128; , ; "EGAS00001006012"; "A cohort of 56 patients with primary, treatment-naive ovarian carcinoma at the University of Washington whose tumours were RNA sequenced to relate BRCA and immune configurations to response to platinum-based chemotherapy."; 56; "UW cohort"; ; rdfs:label "University of Washington ovarian carcinoma cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3128 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3128; "ovarian carcinoma"; "https://ega-archive.org/studies/EGAS00001006012"; rdfs:comment "RNAseq data relative to 56 primary and treatment-naive ovarian carcinomas, from independent donors." . _:d9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 56 patients with primary, treatment-naive ovarian carcinoma at the University of Washington whose tumours were RNA sequenced to relate BRCA and immune configurations to response to platinum-based chemotherapy."; "https://ega-archive.org/studies/EGAS00001006012"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 56; "patients (independent donors) with primary treatment-naive ovarian carcinoma, RNA sequenced"; "https://ega-archive.org/studies/EGAS00001006012"; rdfs:comment "RNAseq data relative to 56 primary and treatment-naive ovarian carcinomas, from independent donors." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3132; , ; "EGAS50000001334"; "A monocentric post-mortem tissue donation programme at UZ Leuven, Belgium, in which women with metastatic breast cancer donate primary, metastatic and normal tissues after death for multi-region molecular profiling."; 45; "UPTIDER - monocentric post-mortem tissue donation program", "breast cancer post-mortem tissue donation program"; ; rdfs:label "UPTIDER"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3132 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:d9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3132; "metastatic breast cancer"; "https://ega-archive.org/studies/EGAS50000001334"; rdfs:comment "EXPRESSION OF ANTIBODY-DRUG CONJUGATE TARGETS IN BREAST CANCER METASTASES AND NORMAL TISSUE Using bulk mRNA sequencing, we investigated the expression of 72 ADC targets, which are clinically approved or under investigation, in 909 samples (64 primary untreated, 749 metastatic, 96 normal) from 30 female patients from our post-mortem tissue donation program UPTIDER (NCT04531696)." . _:d9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS50000001334"; "EXPRESSION OF ANTIBODY-DRUG CONJUGATE TARGETS IN BREAST CANCER METASTASES AND NORMAL TISSUE" . _:d9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A monocentric post-mortem tissue donation programme at UZ Leuven, Belgium, in which women with metastatic breast cancer donate primary, metastatic and normal tissues after death for multi-region molecular profiling."; "https://ega-archive.org/studies/EGAS50000001334"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:d9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 45; "patients enrolled in UPTIDER as of May 2025 (39 with samples acquired)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12592526/fullTextXML"; rdfs:comment "In this regard, as of May 2025, the UPTIDER OSE helped facilitate the acquisition and annotation of >15000 samples from 39/45 enroled patients." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3137; , ; "EGAS00001008019"; "A United Kingdom biobank of pathological samples from over 600 patients with rhabdomyosarcoma and other childhood cancers, with detailed clinical annotation, supporting whole-genome and transcriptome sequencing to identify risk biomarkers."; 600; "VIVO"; ; rdfs:label "VIVO Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3137 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:da02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3137; "rhabdomyosarcoma"; "https://ega-archive.org/studies/EGAS00001008019"; rdfs:comment "The VIVO biobank currently stores pathological samples from over 600 patients with RMS." . _:da12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001008019"; "VIVO_Behjati_Wellcome_Core_WGS" . _:da22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United Kingdom biobank of pathological samples from over 600 patients with rhabdomyosarcoma and other childhood cancers, with detailed clinical annotation, supporting whole-genome and transcriptome sequencing to identify risk biomarkers."; "https://ega-archive.org/studies/EGAS00001008019"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:da32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "patients with rhabdomyosarcoma whose samples the biobank stores, stated as 'over 600' (lower bound; RMS only)"; "https://ega-archive.org/studies/EGAS00001008019"; rdfs:comment "The VIVO biobank currently stores pathological samples from over 600 patients with RMS." . _:da42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIVO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3143; , ; "EGAS00001004942"; "A cohort of patients with metastatic castration-resistant prostate cancer whose metastasis biopsies and plasma were collected by the Stand Up To Cancer and Prostate Cancer Foundation West Coast Dream Team at United States west coast centres for genome, methylome and transcriptome sequencing."; 202; "WCDT", "West Coast Dream Team Cohort"; ; rdfs:label "West Coast Prostate Cancer Dream Team"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3143 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:da52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3143; "metastatic castration-resistant prostate cancer"; "https://ega-archive.org/studies/EGAS00001004942"; rdfs:comment "This dataset consists of genome-wide 5hmC methylomes at various stages of prostate cancer, including not only 93 metastases from castration-resistant prostate cancer (mCRPC) patients, but also 5hmC patterns in cell-free DNA (cfDNA)." . _:da62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with metastatic castration-resistant prostate cancer whose metastasis biopsies and plasma were collected by the Stand Up To Cancer and Prostate Cancer Foundation West Coast Dream Team at United States west coast centres for genome, methylome and transcriptome sequencing."; "https://ega-archive.org/studies/EGAS00001004942"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:da72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 202; "patients with mCRPC enrolled December 2012 to April 2016 in the prospective biopsy study (NCT02432001)"; "https://europepmc.org/api/getPdf?pmcid=PMC6366813" . _:da82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WCDT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3148; , ; ; "EGAS00000000018"; "The Wellcome Trust Case Control Consortium's collection of ankylosing spondylitis cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 1000; 1000; "WTCCC ankylosing spondylitis collection"; ; rdfs:label "WTCCC case-control study for Ankylosing Spondylitis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3148 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:da92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3148; "ankylosing spondylitis"; "https://ega-archive.org/studies/EGAS00000000018"; rdfs:comment "WTCCC genome-wide case-control association study for Ankylosing Spondylitis (AS) using the 1958 British Birth Cohort collection as controls." . _:daa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000018"; rdfs:comment "using the 1958 British Birth Cohort collection as controls" . _:dab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000018"; "WTCCC case-control study for Ankylosing Spondylitis" . _:dac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of ankylosing spondylitis cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000018"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "ankylosing spondylitis cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . _:dae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "ankylosing spondylitis cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3155; , ; ; "EGAS00000000020"; "The Wellcome Trust Case Control Consortium's collection of autoimmune thyroid disease cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 1000; 1000; "WTCCC autoimmune thyroid disease collection"; ; rdfs:label "WTCCC case-control study for Autoimmune Thyroid Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3155 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:daf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3155; "autoimmune thyroid disease"; "https://ega-archive.org/studies/EGAS00000000020"; rdfs:comment "WTCCC genome-wide case-control association study for Autoimmune Thyroid Disease (ATD) using the 1958 British Birth Cohort collection as controls." . _:db02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000020"; rdfs:comment "using the 1958 British Birth Cohort collection as controls" . _:db12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000020"; "WTCCC case-control study for Autoimmune Thyroid Disease" . _:db22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of autoimmune thyroid disease cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000020"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:db32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "autoimmune thyroid disease cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . _:db42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "autoimmune thyroid disease cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3162; , ; ; "EGAS00000000001"; "The Wellcome Trust Case Control Consortium's collection of bipolar disorder cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "WTCCC - Bipolar disease cases", "WTCCC bipolar disorder collection", "Wellcome Trust Case Control Consortium bipolar cohort"; ; rdfs:label "WTCCC case-control study for Bipolar Disorder"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3162 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:db52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3162; "bipolar disorder"; "https://ega-archive.org/studies/EGAS00000000001"; rdfs:comment "WTCCC genome-wide case-control association study for Bipolar disorder (BD) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls." . _:db62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000001"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:db72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000001"; "WTCCC case-control study for Bipolar Disorder" . _:db82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of bipolar disorder cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000001"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:db92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "bipolar disorder cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:dba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "bipolar disorder cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:dbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WTCCC - Bipolar disease cases"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3170; , ; ; "EGAS00000000024"; "The Wellcome Trust Case Control Consortium's collection of breast cancer cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 1000; 1000; "WTCCC breast cancer collection"; ; rdfs:label "WTCCC case-control study for Breast cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:dbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3170; "breast cancer"; "https://ega-archive.org/studies/EGAS00000000024"; rdfs:comment "WTCCC genome-wide case-control association study for Breast cancer (BC) using the 1958 British Birth Cohort collection as controls." . _:dbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000024"; rdfs:comment "using the 1958 British Birth Cohort collection as controls" . _:dbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000024"; "WTCCC case-control study for Breast cancer" . _:dbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of breast cancer cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000024"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "breast cancer cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . _:dc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "breast cancer cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3177; , ; , ; "EGAS00000000003"; "The Wellcome Trust Case Control Consortium's collection of coronary artery disease cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "Coronary Artery Disease (CAD) cohort", "WTCCC CAD", "WTCCC coronary artery disease collection", "WTCCC_CAD", "Wellcome Trust Case Control Consortium CAD"; ; rdfs:label "WTCCC case-control study for Coronary Artery Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3177 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:dc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3177; "coronary artery disease"; "https://ega-archive.org/studies/EGAS00000000003"; rdfs:comment "EGAD00000000004 WTCCC1 project Coronary Artery Disease (CAD) samples" . _:dc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000003"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:dc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000003"; "WTCCC case-control study for Coronary Artery Disease" . _:dc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of coronary artery disease cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000003"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "coronary artery disease cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:dc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "coronary artery disease cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:dc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WTCCC_CAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3185; , ; ; ; "EGAS00000000009"; "The Wellcome Trust Case Control Consortium's collection of hypertension cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "Hypertension cohort (HT)", "WTCCC hypertension collection"; ; rdfs:label "WTCCC case-control study for Hypertension"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3185 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:dc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3185; "hypertension"; "https://ega-archive.org/studies/EGAS00000000009"; rdfs:comment "WTCCC genome-wide case-control association study for Hypertension (HT) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls." . _:dca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000009"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:dcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2685752/fullTextXML"; rdfs:comment "The BRIGHT sample-included WTCCC severe hypertension cases (n = 1754), and additional BRIGHT cases (n = 493) and controls (n = 1947) genotyped in this study." . _:dcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000009"; "WTCCC case-control study for Hypertension" . _:dcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of hypertension cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000009"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "hypertension cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:dcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "hypertension cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3193; , ; ; "EGAS00000000006"; "The Wellcome Trust Case Control Consortium's collection of inflammatory bowel disease cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "WTCCC Crohn's disease collection", "WTCCC inflammatory bowel disease collection"; ; rdfs:label "WTCCC case-control study for Inflammatory Bowel Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3193 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:dd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3193; "inflammatory bowel disease"; "https://ega-archive.org/studies/EGAS00000000006"; rdfs:comment "WTCCC genome-wide case-control association study for Inflammatory Bowel Disease (IBD) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls." . _:dd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000006"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:dd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000006"; "Genomewide Association Study of Inflammatory Bowel Disease" . _:dd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of inflammatory bowel disease cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000006"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "inflammatory bowel disease (the WTCCC1 collection was Crohn's disease cases) cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:dd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "inflammatory bowel disease (the WTCCC1 collection was Crohn's disease cases) cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3200; , ; ; "EGAS00000000022"; "The Wellcome Trust Case Control Consortium's collection of multiple sclerosis cases from the United Kingdom, analysed in a case-control association scan of nonsynonymous SNPs against controls from the 1958 British Birth Cohort."; 1000; 1000; "WTCCC multiple sclerosis collection"; ; rdfs:label "WTCCC case-control study for Multiple Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3200 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:dd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3200; "multiple sclerosis"; "https://ega-archive.org/studies/EGAS00000000022"; rdfs:comment "WTCCC genome-wide case-control association study for Multiple Sclerosis (MS) using the 1958 British Birth Cohort collection as controls." . _:dd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000022"; rdfs:comment "using the 1958 British Birth Cohort collection as controls" . _:dd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000022"; "WTCCC case-control study for Multiple Sclerosis" . _:dd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of multiple sclerosis cases from the United Kingdom, analysed in a case-control association scan of nonsynonymous SNPs against controls from the 1958 British Birth Cohort."; "https://ega-archive.org/studies/EGAS00000000022", "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "multiple sclerosis cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . _:ddb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "multiple sclerosis cases in the WTCCC nsSNP scan (design number per disease), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2680141"; rdfs:comment "Here we report several new replicated associations in our scan of nsSNPs in 1500 shared controls and 1000 individuals from each of 4 different diseases: Ankylosing Spondylitis (AS), Autoimmune Thyroid Disease/Graves’ Disease (AITD), Breast Cancer (BC) and Multiple Sclerosis (MS)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3207; , ; ; "EGAS00000000011"; "The Wellcome Trust Case Control Consortium's collection of rheumatoid arthritis cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "WTCCC for RA", "WTCCC rheumatoid arthritis collection"; ; rdfs:label "WTCCC case-control study for Rheumatoid Arthritis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3207 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ddc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3207; "rheumatoid arthritis"; "https://ega-archive.org/studies/EGAS00000000011"; rdfs:comment "WTCCC genome-wide case-control association study for Rheumatoid Arthritis (RA) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls." . _:ddd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000011"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:dde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000011"; "WTCCC case-control study for Rheumatoid Arthritis" . _:ddf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of rheumatoid arthritis cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000011"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:de02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "rheumatoid arthritis cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:de12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "rheumatoid arthritis cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3214; ; ; "EGAS00000000027"; "The Wellcome Trust Case Control Consortium's collection of tuberculosis cases and controls from Africa, analysed in a genome-wide case-control association study using African samples as controls."; 1316; 1382; "WTCCC tuberculosis collection"; ; rdfs:label "WTCCC case-control study for Tuberculosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3214 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:de22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3214; "tuberculosis"; "https://ega-archive.org/studies/EGAS00000000027"; rdfs:comment "WTCCC genome-wide case-control association study for Tuberculosis (TB) using the African samples as controls." . _:de32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000027"; rdfs:comment "using the African samples as controls" . _:de42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000027"; "WTCCC case-control study for Tuberculosis" . _:de52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of tuberculosis cases and controls from Africa, analysed in a genome-wide case-control association study using African samples as controls."; "https://ega-archive.org/studies/EGAS00000000027"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:de62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1316; "Gambian tuberculosis cases and controls in the WTCCC GWA study (total not stated), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4975513/fullTextXML"; rdfs:comment "The Gambian WTCCC GWA study included 1,316 cases and 1,382 controls who were genotyped using the Affymetrix GeneChip 500K array with 354,607 autosomal SNPs ( Supplementary Methods ) (WTCCC, unpublished)." . _:de72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1382; "Gambian tuberculosis cases and controls in the WTCCC GWA study (total not stated), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4975513/fullTextXML"; rdfs:comment "The Gambian WTCCC GWA study included 1,316 cases and 1,382 controls who were genotyped using the Affymetrix GeneChip 500K array with 354,607 autosomal SNPs ( Supplementary Methods ) (WTCCC, unpublished)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3221; , ; ; "EGAS00000000014"; "The Wellcome Trust Case Control Consortium's collection of type 1 diabetes cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "WTCCC case-control study for T1D", "WTCCC type 1 diabetes collection"; ; rdfs:label "WTCCC case-control study for Type 1 Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3221 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:de82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3221; "type 1 diabetes"; "https://ega-archive.org/studies/EGAS00000000014"; rdfs:comment "WTCCC genome-wide case-control association study for Type 1 Diabetes (T1D) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls." . _:de92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000014"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:dea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000014"; "WTCCC case-control study for Type 1 Diabetes" . _:deb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of type 1 diabetes cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000014"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:dec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "type 1 diabetes cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:ded2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "type 1 diabetes cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3228; , ; ; "EGAS00000000016"; "The Wellcome Trust Case Control Consortium's collection of type 2 diabetes cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; 2000; 2000; "Type 2 Diabetes Cohort (T2D)", "WTCCC type 2 diabetes collection"; ; rdfs:label "WTCCC case-control study for Type 2 Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3228 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:dee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3228; "type 2 diabetes"; "https://ega-archive.org/studies/EGAS00000000016"; rdfs:comment "WTCCC genome-wide case-control association study for Type 2 Diabetes (T2D) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls." . _:def2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ega-archive.org/studies/EGAS00000000016"; rdfs:comment "using the 1958 British Birth Cohort and the UK National Blood Service collections as controls" . _:df02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00000000016"; "WTCCC case-control study for Type 2 Diabetes" . _:df12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Wellcome Trust Case Control Consortium's collection of type 2 diabetes cases from the United Kingdom, analysed in a genome-wide case-control association study against the 1958 British Birth Cohort and UK Blood Service control collections."; "https://ega-archive.org/studies/EGAS00000000016"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:df22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "type 2 diabetes cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . _:df32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "type 2 diabetes cases genotyped for WTCCC1 (before quality control), 2007"; "https://europepmc.org/api/getPdf?pmcid=PMC2719288"; rdfs:comment "Case series came from previously established collections with nationally representative recruitment: 2,000 samples were genotyped for each." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3235, _:genid-371333f489424440b12a13b9d98ced822608-genid3237, _:genid-371333f489424440b12a13b9d98ced822608-genid3239, _:genid-371333f489424440b12a13b9d98ced822608-genid3241; , ; , , ; "GCST90727422"; "A cohort of research volunteers recruited over more than 40 years by the Charles F. and Joanne Knight Alzheimer Disease Research Center at Washington University in St. Louis, United States, largely through its Memory and Aging Project and Memory Diagnostic Clinic, and followed with cognitive, neuropsychological, imaging, fluid biomarker, genomic and multi-omic assessments to study Alzheimer disease and related dementias."; 6625; "Charles F. and Joanne Knight Alzheimer's Disease Research Center", "Knight ADRC", "Knight ADRC Memory and Aging Project", "Knight Alzheimer Disease Research Center", "Knight Alzheimer's Disease Research Center", "Knight-ADRC", "Knight_ADRC", "WASHU", "Washington University Memory & Aging Project"; ; rdfs:label "Charles F. and Joanne Knight Alzheimer Disease Research Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3235 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3237 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3239 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3241 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:df42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3235; "Alzheimer disease related dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11245521/fullTextXML"; rdfs:comment "Out of the 6,625 Knight-ADRC participants (Table 1) recruited during the last 30 years, 2,746 of them are classified at the last assessment as AD (with 29 of them being Autosomal Dominant AD), 2,369 are considered cognitively unimpaired, and 1,510 are considered to suffer from other dementias (1,285 AD Related Dementias (ADRD), 153 FTD, and 72 DLB - Table 1." . _:df52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3237; "Alzheimer disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11245521/fullTextXML"; rdfs:comment "Out of the 6,625 Knight-ADRC participants (Table 1) recruited during the last 30 years, 2,746 of them are classified at the last assessment as AD (with 29 of them being Autosomal Dominant AD), 2,369 are considered cognitively unimpaired, and 1,510 are considered to suffer from other dementias (1,285 AD Related Dementias (ADRD), 153 FTD, and 72 DLB - Table 1." . _:df62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3239; "Lewy body dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11245521/fullTextXML"; rdfs:comment "Out of the 6,625 Knight-ADRC participants (Table 1) recruited during the last 30 years, 2,746 of them are classified at the last assessment as AD (with 29 of them being Autosomal Dominant AD), 2,369 are considered cognitively unimpaired, and 1,510 are considered to suffer from other dementias (1,285 AD Related Dementias (ADRD), 153 FTD, and 72 DLB - Table 1." . _:df72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3241; "frontotemporal dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11245521/fullTextXML"; rdfs:comment "Out of the 6,625 Knight-ADRC participants (Table 1) recruited during the last 30 years, 2,746 of them are classified at the last assessment as AD (with 29 of them being Autosomal Dominant AD), 2,369 are considered cognitively unimpaired, and 1,510 are considered to suffer from other dementias (1,285 AD Related Dementias (ADRD), 153 FTD, and 72 DLB - Table 1." . _:df82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38997326+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Knight-Alzheimer Disease Research Center (Knight-ADRC) at Washington University in St. Louis has pioneered and led worldwide seminal studies that have expanded our clinical, social, pathological, and molecular understanding of Alzheimer Disease." . _:df92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90727422"; "Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study."; "PMID:42127933", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340468/fullTextXML"; rdfs:comment "In this genome-wide association study (GWAS), we analysed data from individuals carrying ADAD mutations and control participants from three cohorts— the Knight Alzheimer Disease Research Center (Knight-ADRC),18 the Dominantly Inherited Alzheimer Network (DIAN) observational study, and the Alzheimer Disease Sequencing Project (ADSP) R4." . _:dfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of research volunteers recruited over more than 40 years by the Charles F. and Joanne Knight Alzheimer Disease Research Center at Washington University in St. Louis, United States, largely through its Memory and Aging Project and Memory Diagnostic Clinic, and followed with cognitive, neuropsychological, imaging, fluid biomarker, genomic and multi-omic assessments to study Alzheimer disease and related dementias."; "PMID:38997326"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:dfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6625; "Knight-ADRC participants recruited during the last 30 years (2024)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11245521/fullTextXML"; rdfs:comment "Out of the 6,625 Knight-ADRC participants (Table 1) recruited during the last 30 years, 2,746 of them are classified at the last assessment as AD (with 29 of them being Autosomal Dominant AD), 2,369 are considered cognitively unimpaired, and 1,510 are considered to suffer from other dementias (1,285 AD Related Dementias (ADRD), 153 FTD, and 72 DLB - Table 1." . _:dfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Knight ADRC"; . _:dfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Knight-ADRC"; . _:dfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Knight_ADRC"; . _:dff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WASHU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3251, _:genid-371333f489424440b12a13b9d98ced822608-genid3253; ; , , ; , ; "GCST90103504"; "A multi-site longitudinal cohort of cognitively normal older adults and people with mild cognitive impairment or mild Alzheimer disease, recruited from 2004 at over 60 clinical sites in the United States and Canada by the Alzheimer's Disease Neuroimaging Initiative, a public-private partnership, to evaluate neuroimaging, fluid biomarker and clinical measures of Alzheimer disease progression."; 819; "ADNI", "Alzheimer Disease Neuroimaging Initiative", "Alzheimers Disease Neuroimaging Initiative"; ; rdfs:label "Alzheimer's Disease Neuroimaging Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3251 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3253 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3251; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20042704+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 819 subjects (229 cognitively normal, 398 with MCI, and 192 with AD) were enrolled at baseline and followed for 12 months using standard cognitive and functional measures typical of clinical trials." . _:e012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3253; "Alzheimer disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20042704+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 819 subjects (229 cognitively normal, 398 with MCI, and 192 with AD) were enrolled at baseline and followed for 12 months using standard cognitive and functional measures typical of clinical trials." . _:e022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adni.loni.usc.edu/about/"; rdfs:comment "Researchers at over 60 clinical sites in the USA and Canada collect data to study the progression of AD in the human brain across normal aging, mild cognitive impairment (MCI), and Alzheimer’s disease and dementia." . _:e032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103504"; "Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer's disease at 12p12.1."; "PMID:35086473", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8796646/fullTextXML"; rdfs:comment "Data used in this analysis was obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database [47]." . _:e042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site longitudinal cohort of cognitively normal older adults and people with mild cognitive impairment or mild Alzheimer disease, recruited from 2004 at over 60 clinical sites in the United States and Canada by the Alzheimer's Disease Neuroimaging Initiative, a public-private partnership, to evaluate neuroimaging, fluid biomarker and clinical measures of Alzheimer disease progression."; "PMID:20042704", "https://adni.loni.usc.edu/about/", "https://adni.loni.usc.edu/about/governance/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 819; "subjects enrolled at baseline in ADNI-1 (229 cognitively normal, 398 MCI, 192 AD)"; "PMID:20042704"; rdfs:comment "A total of 819 subjects (229 cognitively normal, 398 with MCI, and 192 with AD) were enrolled at baseline and followed for 12 months using standard cognitive and functional measures typical of clinical trials." . _:e062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADNI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3260; , , , , , , , , , , , , , , , , ; ; "GCST90727422"; "An international longitudinal cohort of asymptomatic and symptomatic carriers of autosomal dominant Alzheimer disease mutations and their non-carrier family members, followed by a network of Alzheimer disease centres coordinated from Washington University in St. Louis with standard clinical, cognitive, neuroimaging and fluid biomarker protocols to determine the pathochronology of the disease."; 255; "DIAN", "The Dominantly Inherited Alzheimer Network"; ; rdfs:label "Dominantly Inherited Alzheimer Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3260 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3260; "autosomal dominant Alzheimer disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23139856+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "DIAN collects comprehensive information and tissue in accordance with standard protocols from asymptomatic and symptomatic ADAD mutation carriers and their non-carrier family members to determine the pathochronology of clinical, cognitive, neuroimaging, and fluid biomarkers of AD." . _:e082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://dian.wustl.edu/observational-study/dian-observational-study-sites/"; rdfs:comment "Amsterdam UMC Amsterdam, Netherlands Asan Medical Center Seoul, South Korea Brigham and Women’s Hospital Charlestown, Massachusetts Brown University – Butler Hospital Providence, Rhode Island Edith Cowan University, Perth Nedlands, Australia FUNDAÇÃO FACULDADE DE MEDICINA São Paulo, Brazil Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI) Instituto de Investigaciones Neurológicas Raúl Correa Buenos Aires, Argentina Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI) Instituto de Investigaciones Neurológicas Raúl Correa Hospital San Bernardo Salta, Argentina German Center for Neurodegenerative Diseases (DZNE) Munich, Germany German Center for Neurodegenerative Diseases (DZNE) Tübingen, Germany Grupo Neurociencias de Antioquia Medellin, Colombia Indiana University Neurology Indianapolis, Indiana Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suarez Mexico City, Mexico Mayo Clinic Jacksonville Jacksonville, Florida Neuroscience Research Australia Sydney, Australia Niigata University Niigata City, Japan University College London London, United Kingdom" . _:e092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90727422"; "Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study."; "PMID:42127933", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340468/fullTextXML"; rdfs:comment "In this genome-wide association study (GWAS), we analysed data from individuals carrying ADAD mutations and control participants from three cohorts— the Knight Alzheimer Disease Research Center (Knight-ADRC),18 the Dominantly Inherited Alzheimer Network (DIAN) observational study, and the Alzheimer Disease Sequencing Project (ADSP) R4." . _:e0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international longitudinal cohort of asymptomatic and symptomatic carriers of autosomal dominant Alzheimer disease mutations and their non-carrier family members, followed by a network of Alzheimer disease centres coordinated from Washington University in St. Louis with standard clinical, cognitive, neuroimaging and fluid biomarker protocols to determine the pathochronology of the disease."; "PMID:23139856"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 255; "participants enrolled as of 15 May 2012"; "PMID:23139856"; rdfs:comment "255 DIAN participants were enrolled as of May 15, 2012, the largest international cohort of ADAD individuals in the world." . _:e0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3267, _:genid-371333f489424440b12a13b9d98ced822608-genid3269, _:genid-371333f489424440b12a13b9d98ced822608-genid3271; , ; "GCST90421033"; "A longitudinal observational memory-clinic cohort of about 300 people at baseline, diagnosed with Alzheimer disease dementia, other dementias, mild cognitive impairment or subjective memory complaints, assembled at the Memory Disorders Unit of the University Hospital Mútua de Terrassa near Barcelona, Spain, with cerebrospinal fluid and amyloid PET biomarkers collected for selected participants."; 300; "Barcelona-1, MútuaTerrassa University Hospital", "Longitudinal observational study from the Memory and Disorder unit at the University Hospital Mutua de Terrassa"; ; rdfs:label "Barcelona-1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3267 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3269 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3271 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3267; "dementia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9562128/unicode"; rdfs:comment "Barcelona -1 is a longitudinal observational study consisting of ~300 subjects at baseline carried out in the Memory and Disorder unit at the University Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain." . _:e0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3269; "mild cognitive impairment"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9562128/unicode"; rdfs:comment "Barcelona -1 is a longitudinal observational study consisting of ~300 subjects at baseline carried out in the Memory and Disorder unit at the University Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain." . _:e0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3271; "Alzheimer's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9562128/unicode"; rdfs:comment "Barcelona -1 is a longitudinal observational study consisting of ~300 subjects at baseline carried out in the Memory and Disorder unit at the University Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain." . _:e102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9562128/unicode"; rdfs:comment "Barcelona -1 is a longitudinal observational study consisting of ~300 subjects at baseline carried out in the Memory and Disorder unit at the University Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain." . _:e112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90421033"; "Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease."; "PMID:39528825", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11831731/"; rdfs:comment "Genomic datasets from ADNI, DIAN, Knight-ADRC (Oct 2021), Knight-ADRC (June 2023), MARS, FACE, and Barcelona-1 were genotyped on multiple arrays at different times and were imputed individually using the GRCh38 Version R2 reference panel on the TOPMed imputation server." . _:e122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational memory-clinic cohort of about 300 people at baseline, diagnosed with Alzheimer disease dementia, other dementias, mild cognitive impairment or subjective memory complaints, assembled at the Memory Disorders Unit of the University Hospital Mútua de Terrassa near Barcelona, Spain, with cerebrospinal fluid and amyloid PET biomarkers collected for selected participants."; "PMID:35871346"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 300; "subjects at baseline (approximate)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9562128/"; rdfs:comment "Barcelona -1 is a longitudinal observational study consisting of ~300 subjects at baseline carried out in the Memory and Disorder unit at the University Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3277; , ; "GCST90797644"; "A cohort of patients with coronary artery disease undergoing coronary artery bypass grafting, with comparison patients undergoing other open-heart surgery, enrolled at the Department of Cardiac Surgery of Tartu University Hospital in Estonia, whose vascular and metabolic tissues and blood were genotyped, RNA-sequenced and proteomically profiled to study gene regulation underlying cardiometabolic disease."; 600; 600; "STARNET", "Stockholm-Tartu Atherosclerosis Reverse Engineering Task", "Stockholm-Tartu Atherosclerosis Reverse Network Engineering Task"; ; rdfs:label "Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3277 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3277; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12824914/fullTextXML"; rdfs:comment "Coronary artery disease (CAD) patients eligible for coronary artery by-pass grafting (CABG) surgery (n = 200) and controls eligible for other open-heart surgeries (e.g. valve replacement, n = 84), verified to be CAD-free in pre-operative coronary angiograms, were enrolled at the Department of Cardiac Surgery, Tartu University Hospital." . _:e152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12824914/fullTextXML"; rdfs:comment "Coronary artery disease (CAD) patients eligible for coronary artery by-pass grafting (CABG) surgery (n = 200) and controls eligible for other open-heart surgeries (e.g. valve replacement, n = 84), verified to be CAD-free in pre-operative coronary angiograms, were enrolled at the Department of Cardiac Surgery, Tartu University Hospital." . _:e162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797644"; "Deciphering tissue-specific protein regulation for insights into cardiometabolic disease."; "PMID:41456820", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12824914/fullTextXML"; rdfs:comment "Utilizing Olink technology, we assessed relative protein levels across plasma and tissue (aortic wall, mammary artery, liver, and skeletal muscle) from the STARNET cohort: 284 individuals with a high prevalence of coronary artery disease (CAD)." . _:e172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with coronary artery disease undergoing coronary artery bypass grafting, with comparison patients undergoing other open-heart surgery, enrolled at the Department of Cardiac Surgery of Tartu University Hospital in Estonia, whose vascular and metabolic tissues and blood were genotyped, RNA-sequenced and proteomically profiled to study gene regulation underlying cardiometabolic disease."; "PMID:27540175", "PMID:41456820"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "coronary artery disease patients genotyped and RNA-sequenced"; "PMID:27540175"; rdfs:comment "We genotyped and RNA-sequenced vascular and metabolic tissues from 600 coronary artery disease patients in the Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task study (STARNET)." . _:e192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "coronary artery disease patients genotyped and RNA-sequenced"; "PMID:27540175"; rdfs:comment "We genotyped and RNA-sequenced vascular and metabolic tissues from 600 coronary artery disease patients in the Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task study (STARNET)." . _:e1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STARNET"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3285; , ; , ; "GCST90475089"; "An observational cohort and mega-biobank of veterans enrolled since 2011 at recruiting sites of the Department of Veterans Affairs health care system in the United States, combining questionnaires, electronic health records and blood samples for genomic testing to study genetic influences on health and disease."; 1000000; "MVP", "Million Veterans Program", "VA Million Veteran Program"; , ; rdfs:label "Million Veteran Program"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid3285 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3285; "military service"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39024449+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We present genome-wide associations for 2068 traits from 635,969 participants in the Department of Veterans Affairs Million Veteran Program, a longitudinal study of diverse United States Veterans." . _:e1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39024449+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We present genome-wide associations for 2068 traits from 635,969 participants in the Department of Veterans Affairs Million Veteran Program, a longitudinal study of diverse United States Veterans." . _:e1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90475089"; "Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program."; "PMID:39024449", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39024449+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We present genome-wide associations for 2068 traits from 635,969 participants in the Department of Veterans Affairs Million Veteran Program, a longitudinal study of diverse United States Veterans." . _:e1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational cohort and mega-biobank of veterans enrolled since 2011 at recruiting sites of the Department of Veterans Affairs health care system in the United States, combining questionnaires, electronic health records and blood samples for genomic testing to study genetic influences on health and disease."; "PMID:26441289"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000000; "Veterans who have joined since 2011"; "https://www.research.va.gov/mvp/"; rdfs:comment "Since launching in 2011, 1 million Veterans have joined MVP." . _:e202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MVP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3292; , , ; "GCST90428575"; "A cohort of healthy Chinese Han adults aged 18–30 years recruited at research centres in mainland Chinese cities by the Chinese Imaging Genetics (CHIMGEN) study, collecting genomic, neuroimaging, environmental and behavioural data to identify genetic and environmental factors associated with neuroimaging and behavioural phenotypes."; 7000; "CHIMGEN", "Chinese Imaging Genetics", "Chinese Imaging Genetics cohort"; ; rdfs:label "Chinese Imaging Genetics study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3292 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3292; "air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31827248+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In addition to micro-environmental measurements, this study also collects hundreds of quantitative macro-environmental measurements from remote sensing and national survey databases based on the locations of each participant from birth to present, which will facilitate discoveries of new environmental factors associated with neuroimaging phenotypes." . _:e222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7042768/fullTextXML"; rdfs:comment "The aim of this study was to collect genomic, neuroimaging, environmental, and behavioral data from 10,000 healthy Chinese Han participants aged 18–30 years in 30 research centers from 21 mainland cities in China." . _:e232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428575"; "Genome-wide association study of hippocampal blood-oxygen-level-dependent-cerebral blood flow correlation in Chinese Han population."; "PMID:37822511", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10562876/fullTextXML"; rdfs:comment "In this study, we conducted the first GWAS on the hippocampal BOLD-CBF correlation in 4,832 Chinese Han participants from the Chinese Imaging Genetics (CHIMGEN) cohort.22 Here, the across-voxel correlation between reginal homogeneity (ReHo) derived from the resting-state fMRI data and CBF measured by the arterial spin labeling (ASL) MRI data within hippocampal voxels was used as a proxy to represent hippocampal NVC." . _:e242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of healthy Chinese Han adults aged 18–30 years recruited at research centres in mainland Chinese cities by the Chinese Imaging Genetics (CHIMGEN) study, collecting genomic, neuroimaging, environmental and behavioural data to identify genetic and environmental factors associated with neuroimaging and behavioural phenotypes."; "PMID:31827248"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7000; "participants recruited to date (more than 7000)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7042768/fullTextXML"; rdfs:comment "To date, we have recruited more than 7000 participants, becoming the largest and most integrative Chinese neuroimaging genetics cohort." . _:e262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHIMGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3299; , ; "GCST90232793"; "A cohort of African American adults aged 18–70 with hypertensive chronic kidney disease, enrolled at clinical centres across the United States in a randomized trial of antihypertensive drug regimens and blood-pressure goals (1995–2001) and then followed in the AASK Cohort Study to identify risk factors for progressive kidney disease."; 1094; "AASK", "AASK Cohort Study", "African American Study of Kidney disease and hypertension"; ; rdfs:label "African American Study of Kidney Disease and Hypertension"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3299; "hypertensive kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12819322+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants include African-American men and women aged 18 to 70 yr who have hypertensive kidney disease and GFR between 20 and 65 ml/min per 1.73 m(2)." . _:e282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18472682+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The African American Study of Kidney Disease and Hypertension (AASK) was conducted over a 7-year period at 21 clinical centers across the United States to investigate whether one of two levels of blood pressure control and/or one of three classes of antihypertensive medications was more effective at slowing the rate of renal disease in African Americans with renal insufficiency presumed secondary to hypertension." . _:e292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90232793"; "Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension."; "PMID:35870639", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35870639+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we report the genetic determinants of the serum proteome in 466 African Americans with chronic kidney disease attributed to hypertension from the richly phenotyped African American Study of Kidney Disease and Hypertension (AASK) study." . _:e2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of African American adults aged 18–70 with hypertensive chronic kidney disease, enrolled at clinical centres across the United States in a randomized trial of antihypertensive drug regimens and blood-pressure goals (1995–2001) and then followed in the AASK Cohort Study to identify risk factors for progressive kidney disease."; "PMID:12819322", "PMID:17591527", "PMID:18472682"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1094; "African American adults randomized in the AASK Trial"; "PMID:17591527"; rdfs:comment "Of 1,094 persons enrolled in the AASK Trial (June 1995 to September 2001; mean age, 55 years; 61% men), 691 enrolled in the AASK Cohort Study (April 2002 to present), 299 died or reached dialysis therapy or transplantation, and 104 declined to participate in the AASK Cohort Study." . _:e2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AASK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3306, _:genid-371333f489424440b12a13b9d98ced822608-genid3308, _:genid-371333f489424440b12a13b9d98ced822608-genid3310; ; , ; , ; "GCST90286909"; "A cohort of patients who have visited the memory clinic of the Alzheimer Center Amsterdam at VU University Medical Center (now Amsterdam UMC, location VUmc) in Amsterdam, the Netherlands, since the center opened in 2000 and consented to the research use of their clinical data, numbering almost 7,000 individuals by 2019. Patients undergo a one-day diagnostic screening that includes neuropsychological testing, MRI, EEG and lumbar puncture, are asked to consent to the storage of blood, DNA and cerebrospinal fluid in the center's biobank, and are mostly followed up annually; the ongoing observational study combines patient care with research on early diagnosis, heterogeneity and vascular factors in dementia."; "The acronym ADC also denotes National Alzheimer's Coordinating Center (COHO:0000480); this term is Amsterdam Dementia Cohort."@en; 7000; "ADC", "AmDem", "Amsterdam"; ; rdfs:label "Amsterdam Dementia Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3306 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3308 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3310 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3306; "dementia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13502291/unicode"; rdfs:comment "The ADC started collecting samples in the year 2000 and is an ongoing, observational follow-up study of patients who visited the memory clinic of the Alzheimer Center at Amsterdam UMC, location VU University medical center (VUmc)." . _:e2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3308; "mild cognitive impairment"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13502291/unicode"; rdfs:comment "The ADC started collecting samples in the year 2000 and is an ongoing, observational follow-up study of patients who visited the memory clinic of the Alzheimer Center at Amsterdam UMC, location VU University medical center (VUmc)." . _:e2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3310; "Alzheimer's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13502291/unicode"; rdfs:comment "The ADC started collecting samples in the year 2000 and is an ongoing, observational follow-up study of patients who visited the memory clinic of the Alzheimer Center at Amsterdam UMC, location VU University medical center (VUmc)." . _:e302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13502291/unicode"; rdfs:comment "The ADC started collecting samples in the year 2000 and is an ongoing, observational follow-up study of patients who visited the memory clinic of the Alzheimer Center at Amsterdam UMC, location VU University medical center (VUmc)." . _:e312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90286909"; "Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes."; "PMID:40021830", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40021830+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Individuals originated from two separate cohorts including cognitively healthy subjects (n = 490) and a well-characterized memory clinic sample, the Amsterdam Dementia Cohort (ADC, n = 487)." . _:e322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients who have visited the memory clinic of the Alzheimer Center Amsterdam at VU University Medical Center (now Amsterdam UMC, location VUmc) in Amsterdam, the Netherlands, since the center opened in 2000 and consented to the research use of their clinical data, numbering almost 7,000 individuals by 2019. Patients undergo a one-day diagnostic screening that includes neuropsychological testing, MRI, EEG and lumbar puncture, are asked to consent to the storage of blood, DNA and cerebrospinal fluid in the center's biobank, and are mostly followed up annually; the ongoing observational study combines patient care with research on early diagnosis, heterogeneity and vascular factors in dementia."; "PMID:29562540", "PMID:40021830", "https://www.alzheimercentrum.nl/wetenschap/amsterdam-dementia-cohort/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7000; "memory-clinic patients in the cohort (almost 7000), 2019"; "https://www.alzheimercentrum.nl/wetenschap/amsterdam-dementia-cohort/"; rdfs:comment "This patients population comprises the Amsterdam Dementia Cohort, which currently consists of almost 7000 individuals." . _:e342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADC"; . _:e352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AmDem"; . _:e362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Amsterdam"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3319; , ; "GCST90939806"; "A longitudinal cohort of people with Parkinson disease and healthy older controls studied by the Campbell Research Lab in the Section of Movement Disorders at Washington University in St. Louis, United States, assessed every two years with MRI, motor, gait and cognitive testing, optional lumbar puncture and clinical interview to understand the role of brain proteins and neurotransmitters in Parkinson disease symptoms compared with healthy aging."; "PAND", "Protein Aggregation and Neurotransmitter Deficits", "Protein Aggregation and Neurotransmitter Deficits in Parkinson Disease"; ; rdfs:label "Protein Aggregation and Neurotransmitter Deficits Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3319; "Parkinson disease"; "https://campbellresearchlab.wustl.edu/items/protein-aggregation-and-neurotransmitter-deficits-pand-study/"; rdfs:comment "The purpose of this study is to understand the role of brain proteins and neurotransmitters in the symptoms of PD compared to healthy aging." . _:e382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://campbellresearchlab.wustl.edu/items/protein-aggregation-and-neurotransmitter-deficits-pand-study/"; rdfs:comment "Protein Aggregation and Neurotransmitter Deficits (PAND) Study | Campbell Research Lab | Washington University in St. Louis" . _:e392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90939806"; "Low overlap of plasma and CSF protein quantitative trait loci affects protein discovery for neurological disease."; "PMID:42054495" . _:e3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of people with Parkinson disease and healthy older controls studied by the Campbell Research Lab in the Section of Movement Disorders at Washington University in St. Louis, United States, assessed every two years with MRI, motor, gait and cognitive testing, optional lumbar puncture and clinical interview to understand the role of brain proteins and neurotransmitters in Parkinson disease symptoms compared with healthy aging."; "https://campbellresearchlab.wustl.edu/items/protein-aggregation-and-neurotransmitter-deficits-pand-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3325; , ; ; "GCST90939806"; "A longitudinal cohort of people with Parkinson disease and healthy older controls studied by the Campbell Research Lab in the Section of Movement Disorders at Washington University in St. Louis, United States, assessed every three years with MRI, motor, gait and cognitive testing, optional lumbar puncture, amyloid and cholinergic PET and clinical interview to relate clinical symptoms to brain changes in Parkinson disease compared with healthy aging."; "PIB", "PIB-PD", "Protein and Imaging Biomarkers in Parkinson’s disease study"; ; rdfs:label "Protein and Imaging Biomarkers of Parkinson Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3325 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3325; "Parkinson disease"; "https://campbellresearchlab.wustl.edu/items/protein-and-imaging-biomarkers-of-parkinson-disease-pib-study/"; rdfs:comment "The purpose of this study is to understand the relationship between clinical symptoms and brain changes in people with PD as compared to healthy aging." . _:e3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://campbellresearchlab.wustl.edu/items/protein-and-imaging-biomarkers-of-parkinson-disease-pib-study/"; rdfs:comment "Protein and Imaging Biomarkers of Parkinson Disease (PIB) Study | Campbell Research Lab | Washington University in St. Louis" . _:e3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90939806"; "Low overlap of plasma and CSF protein quantitative trait loci affects protein discovery for neurological disease."; "PMID:42054495" . _:e3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of people with Parkinson disease and healthy older controls studied by the Campbell Research Lab in the Section of Movement Disorders at Washington University in St. Louis, United States, assessed every three years with MRI, motor, gait and cognitive testing, optional lumbar puncture, amyloid and cholinergic PET and clinical interview to relate clinical symptoms to brain changes in Parkinson disease compared with healthy aging."; "https://campbellresearchlab.wustl.edu/items/protein-and-imaging-biomarkers-of-parkinson-disease-pib-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIB"; . _:e412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIB-PD"; . a owl:NamedIndividual, ; , , ; , , , ; "GCST90308750"; "A patient-based biobank established in 2003 at the Institute of Medical Science, the University of Tokyo, by the BioBank Japan Project, with a first cohort of about 200,000 patients diagnosed with any of 47 common diseases, enrolled at 12 cooperative medical institutes across Japan from June 2003 to March 2008, whose DNA was collected at baseline and serum and clinical information annually until 2013, and a second cohort of about 67,000 new patients with 38 diseases enrolled in fiscal years 2013–2017, together about 267,000 patients with 51 diseases, built as infrastructure for genomic research and the implementation of personalized medicine."; "The acronym RIKEN also denotes RIKEN Study (COHO:0000575) and RIKEN cohort (COHO:0000576); this term is BioBank Japan."@en; 267000; "BBJ", "Bio Bank Japan", "BioBank Japan Project", "BioBank-Japan", "Biobank Japan", "Biobank of Japan", "Japan BioBank", "Japan Biobank", "RIKEN"; , ; rdfs:label "BioBank Japan"@en; rdfs:seeAlso . _:e422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28189464+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients were enrolled at 12 cooperative medical institutes all over Japan from June 2003 to March 2008." . _:e432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308750"; "Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis."; "PMID:37340002", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37340002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we conduct the pan-cancer and cross-population genome-wide association study (GWAS) meta-analysis and replication studies on 13 cancers including 250,015 East Asians (Biobank Japan) and 377,441 Europeans (UK Biobank)." . _:e442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A patient-based biobank established in 2003 at the Institute of Medical Science, the University of Tokyo, by the BioBank Japan Project, with a first cohort of about 200,000 patients diagnosed with any of 47 common diseases, enrolled at 12 cooperative medical institutes across Japan from June 2003 to March 2008, whose DNA was collected at baseline and serum and clinical information annually until 2013, and a second cohort of about 67,000 new patients with 38 diseases enrolled in fiscal years 2013–2017, together about 267,000 patients with 51 diseases, built as infrastructure for genomic research and the implementation of personalized medicine."; "PMID:28189464", "https://biobankjp.org/en/about/1990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 267000; "patients (collaborators) with 51 diseases in the first and second cohorts"; "https://biobankjp.org/en/about/1990"; rdfs:comment "4th Phase (FY 2018 to 2022) – Growth to 267,000 collaborators and 51 diseases; converting samples into dataWe promoted utilization of the DNA, serum, and clinical information of a total of 267,000 collaborators with 51 diseases (440,000 cases) in the first and second cohorts, as well as the conversion of biological samples into data to entrench the BBJ as a much-used biobank." . _:e462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBJ"; . _:e472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biobank Japan"; . _:e482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RIKEN"; . a owl:NamedIndividual, ; , ; , ; ; "GCST90086175"; "A cohort of older men and women born in 1907–1935, drawn from the population-based Reykjavik Study followed in Iceland by the Icelandic Heart Association and re-examined from 2002 with detailed cardiovascular, neurocognitive, musculoskeletal and metabolic phenotypes to study genetic susceptibility and gene–environment interaction in disease and disability in old age."; 5764; "AGES", "AGES-RS", "AGES-Reykjavik", "Age Gene/Environment Susceptibility", "Age, Gene, Environment and Susceptibility-Reykjavik", "Aging Gene-Environment Susceptibility - Reykjavik Study"; ; rdfs:label "Age, Gene/Environment Susceptibility-Reykjavik Study"@en . _:e492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17351290+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This cohort of men and women born between 1907 and 1935 has been followed in Iceland since 1967 by the Icelandic Heart Association." . _:e4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17351290+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The AGES-Reykjavik sample is drawn from an established population-based cohort, the Reykjavik Study." . _:e4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90086175"; "A genome-wide association study of serum proteins reveals shared loci with common diseases."; "PMID:35078996", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8789779/fullTextXML"; rdfs:comment "We performed a GWAS of 4782 serum proteins encoded by 4135 unique human genes in the population-based AGES cohort of elderly Icelanders (n = 5368, Supplementary Data 1), measured by the slow-off rate modified aptamer (SOMAmer) platform as previously described8,18." . _:e4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of older men and women born in 1907–1935, drawn from the population-based Reykjavik Study followed in Iceland by the Icelandic Heart Association and re-examined from 2002 with detailed cardiovascular, neurocognitive, musculoskeletal and metabolic phenotypes to study genetic susceptibility and gene–environment interaction in disease and disability in old age."; "PMID:17351290"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5764; "Reykjavik Study survivors examined at the AGES-Reykjavik baseline, 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10463542/fullTextXML"; rdfs:comment "Between 2002 and 2006, 5,764 individuals randomly selected from survivors of the Reykjavik Study were included." . _:e4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGES"; . _:e4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGES-RS"; . _:e502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGES-Reykjavik"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3347, _:genid-371333f489424440b12a13b9d98ced822608-genid3349, _:genid-371333f489424440b12a13b9d98ced822608-genid3351; , ; ; "GCST90454419"; "A longitudinal observational cohort of volunteers followed by the Stanford Alzheimer's Disease Research Center (the Iqbal Farrukh and Asad Jamal Stanford ADRC) at Stanford University, California, one of the US National Institute on Aging-funded Alzheimer's Disease Research Centers, comprising people with Alzheimer disease, dementia with Lewy bodies, Parkinson disease or mild cognitive impairment and cognitively unimpaired older adults, who undergo standardized clinical, neurological and neuropsychological assessments following National Alzheimer's Coordinating Center procedures and give blood and cerebrospinal fluid used in proteomic and genetic studies, in line with the center's focus on Alzheimer disease and Lewy body disorders."; "Iqbal Farrukh and Asad Jamal Stanford Alzheimer's Disease Research Center", "SADRC", "Stanford ADRC", "Stanford Iqbal Farrukh and Asad Jamal ADRC", "Stanford_ADRC"; ; rdfs:label "Stanford Alzheimer's Disease Research Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3347 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3349 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3351 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3347; "Lewy body disorders"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-01972-8/MediaObjects/41588_2024_1972_MOESM1_ESM.pdf"; rdfs:comment "The SADRC cohort is a longitudinal observational study of clinical dementia subjects and age-sex-matched non-demented subjects." . _:e522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3349; "dementia"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-01972-8/MediaObjects/41588_2024_1972_MOESM1_ESM.pdf"; rdfs:comment "The SADRC cohort is a longitudinal observational study of clinical dementia subjects and age-sex-matched non-demented subjects." . _:e532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3351; "Alzheimer's disease"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-01972-8/MediaObjects/41588_2024_1972_MOESM1_ESM.pdf"; rdfs:comment "The SADRC cohort is a longitudinal observational study of clinical dementia subjects and age-sex-matched non-demented subjects." . _:e542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://med.stanford.edu/adrc.html"; rdfs:comment "The Stanford Alzheimer’s Disease Research Center (ADRC) is part of a nationwide network of congressionally mandated Centers of Excellence supported by the National Institutes of Health." . _:e552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454419"; "Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer's disease."; "PMID:38172904", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10763080/fullTextXML"; rdfs:comment "Stanford Alzheimer’s Disease Research Center (ADRC) (https://med.stanford.edu/adrc.html), one of thirty-one ADRC, aims to translate research advances into improved diagnosis and care for people with AD and related disorders." . _:e562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational cohort of volunteers followed by the Stanford Alzheimer's Disease Research Center (the Iqbal Farrukh and Asad Jamal Stanford ADRC) at Stanford University, California, one of the US National Institute on Aging-funded Alzheimer's Disease Research Centers, comprising people with Alzheimer disease, dementia with Lewy bodies, Parkinson disease or mild cognitive impairment and cognitively unimpaired older adults, who undergo standardized clinical, neurological and neuropsychological assessments following National Alzheimer's Coordinating Center procedures and give blood and cerebrospinal fluid used in proteomic and genetic studies, in line with the center's focus on Alzheimer disease and Lewy body disorders."; "PMID:38172904", "https://med.stanford.edu/adrc.html", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-01972-8/MediaObjects/41588_2024_1972_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SADRC"; . _:e582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stanford ADRC"; . _:e592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stanford_ADRC"; . a owl:NamedIndividual, ; , ; "GCST90399837"; "A national stratified cohort of 51,338 women and men aged 45–85 years recruited in 2011–2015 from all 10 Canadian provinces, comprising a telephone-interviewed Tracking cohort and an in-person Comprehensive cohort providing physical assessments and blood and urine samples, assembled as a longitudinal research platform for studying health and aging."; 51338; "CLSA", "Canadian Longitudinal Study of Aging"; ; rdfs:label "Canadian Longitudinal Study on Aging"@en . _:e5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6929533/fullTextXML"; rdfs:comment "In the Tracking cohort, participants were recruited across the 10 provinces, and all questionnaire measures are collected by computer-assisted telephone interviews (CATI) administered through CLSA CATI sites established in four regions across Canada to accommodate different time zones and language (English or French) requirements for questionnaire administration." . _:e5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399837"; "Effect modification by sex of genetic associations of vitamin C related metabolites in the Canadian Longitudinal study on aging."; "PMID:39144724", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39144724+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Methods: We included individuals of European descent from the Canadian Longitudinal Study on Aging with available genetic and metabolic data (n = 9004)." . _:e5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national stratified cohort of 51,338 women and men aged 45–85 years recruited in 2011–2015 from all 10 Canadian provinces, comprising a telephone-interviewed Tracking cohort and an in-person Comprehensive cohort providing physical assessments and blood and urine samples, assembled as a longitudinal research platform for studying health and aging."; "PMID:31633757"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 51338; "women and men aged 45-85 recruited at baseline, 2011-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6929533/fullTextXML"; rdfs:comment "The CLSA cohort is a national stratified sample of 51 338 women and men aged 45–85 years at the time of recruitment." . _:e5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3364; , ; , , , , , , ; "GCST90104476"; "A community-based cohort of 5,302 African American adults, including a nested family cohort, enrolled from the three counties of the Jackson, Mississippi metropolitan area, with extensive medical, social, physical and biochemical measurements and genomic DNA, to study cardiovascular and related diseases in African Americans."; 5302; "JHS"; ; rdfs:label "Jackson Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3364 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3364; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9395431/fullTextXML"; rdfs:comment "JHS is a prospective population-based observational study designed to investigate risk factors for cardiovascular disease (CVD) in Black individuals." . _:e602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16320381+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were enrolled from the three counties that make up the Jackson, Mississippi metropolitan area." . _:e612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104476"; "Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals."; "PMID:35995766", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35995766+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we perform a whole genome association study of 2,291 metabolite peaks (known and unknown features) in 2,466 Black individuals from the Jackson Heart Study." . _:e622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of 5,302 African American adults, including a nested family cohort, enrolled from the three counties of the Jackson, Mississippi metropolitan area, with extensive medical, social, physical and biochemical measurements and genomic DNA, to study cardiovascular and related diseases in African Americans."; "PMID:16320381"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5302; "adult African Americans enrolled at baseline, including 1499 family members"; "PMID:16320381"; rdfs:comment "Data and biologic materials have been collected from 5302 adult African Americans, including 1499 members of 291 families." . _:e642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JHS"; . a owl:NamedIndividual, ; , ; ; "GCST90432193"; "A sub-cohort of 54,219 UK Biobank participants, mostly a random selection of baseline participants plus individuals chosen by consortium members and participants in the COVID-19 repeat-imaging study, whose plasma proteomes were profiled by the UK Biobank Pharma Proteomics Project, a precompetitive consortium of biopharmaceutical companies, to map genetic and health associations of circulating proteins."; 54219; "Pharma Proteomics Project", "UK Biobank Pharma Plasma Proteome", "UKB Pharma Plasma Proteome", "UKB-PPP"; ; rdfs:label "UK Biobank Pharma Proteomics Project"@en . _:e652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37794186+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants." . _:e662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432193"; "Rare variant associations with plasma protein levels in the UK Biobank."; "PMID:37794183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10567546/fullTextXML"; rdfs:comment "The UKB Pharma Plasma Proteome (UKB-PPP) cohort comprises plasma samples from 54,219 individuals, including 46,595 randomly selected participants, 6,376 consortium-chosen individuals and 1,268 participants from a COVID-19 repeat imaging study." . _:e672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-cohort of 54,219 UK Biobank participants, mostly a random selection of baseline participants plus individuals chosen by consortium members and participants in the COVID-19 repeat-imaging study, whose plasma proteomes were profiled by the UK Biobank Pharma Proteomics Project, a precompetitive consortium of biopharmaceutical companies, to map genetic and health associations of circulating proteins."; "PMID:37794186"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 54219; "UK Biobank participants with plasma proteomic profiles"; "PMID:37794186"; rdfs:comment "The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants." . _:e692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKB-PPP"; . a owl:NamedIndividual, ; , ; , , ; "GCST90837428", "PGS003964"; "A healthcare-based biobank of more than 140,000 consenting patients of the Mass General Brigham network in the Greater Boston area of Massachusetts, enrolled since 2010 at Massachusetts General Hospital, Brigham and Women’s Hospital and local sites, linking biological samples, genomic data and health records to study genetic and environmental influences on disease in clinical practice."; "The acronym Harvard also denotes Nurses' Health Study (COHO:0000456), Health Professionals Follow-up Study (COHO:0000527) and Nurses' Health Study II (COHO:0000619); this term is Mass General Brigham Biobank."@en; 142238; "Harvard", "MGB", "MGB Biobank", "MGBB", "Mass-General Brigham Biobank", "PHB", "PHBB", "Partners", "Partners Biobank", "Partners Health", "Partners HealthCare Biobank", "Partners Healthcare Biorepository", "Partners Healthcare System Biobank", "Partners study"; , ; rdfs:label "Mass General Brigham Biobank"@en . _:e6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41298473+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Mass General Brigham, an integrated healthcare system based in the Greater Boston area of Massachusetts, annually serves 1.5 million patients." . _:e6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837428"; "Genetics and context for precision health in Greater Boston."; "PMID:41298473", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41298473+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established the Mass General Brigham Biobank (MGBB), currently encompassing 142,238 participants, to unravel the intricate relationships among genomic profiles, environmental context, and disease manifestations within clinical practice." . _:e6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003964"; "Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups."; "PMID:37268629" . _:e6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A healthcare-based biobank of more than 140,000 consenting patients of the Mass General Brigham network in the Greater Boston area of Massachusetts, enrolled since 2010 at Massachusetts General Hospital, Brigham and Women’s Hospital and local sites, linking biological samples, genomic data and health records to study genetic and environmental influences on disease in clinical practice."; "PMID:41298473"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 142238; "individuals consented since 2010, as of 11 May 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12749686/fullTextXML"; rdfs:comment "Since 2010, 142,238 individuals within the Mass General Brigham (MGB) network, the largest healthcare system in Massachusetts, have consented to participate in the MGBB as of May 11, 2023 (Fig. 1a, Supplementary Table 1)." . _:e6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harvard"; . _:e702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGB"; . _:e712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGBB"; . _:e722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHB"; . _:e732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHBB"; . _:e742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Partners"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3387, _:genid-371333f489424440b12a13b9d98ced822608-genid3389; , ; , , , , , , , , , ; "GCST90244700"; "A population-based longitudinal cohort of men and women aged 65 years and older sampled from Medicare eligibility lists in four US communities (Forsyth County, North Carolina; Sacramento County, California; Washington County, Maryland; Pittsburgh, Pennsylvania) from 1989, with mostly Black participants added in 1992–1993, to identify factors related to the onset and course of coronary heart disease and stroke in older adults."; "The acronym CHS also denotes Children's Health Study (COHO:0001592); this term is Cardiovascular Health Study."@en; 5888; "CHS", "Cardiovascular Heath Study"; ; rdfs:label "Cardiovascular Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3389 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3387; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1669507+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Cardiovascular Health Study (CHS) is a population-based, longitudinal study of coronary heart disease and stroke in adults aged 65 years and older." . _:e762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3389; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1669507+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Cardiovascular Health Study (CHS) is a population-based, longitudinal study of coronary heart disease and stroke in adults aged 65 years and older." . _:e772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://chs-nhlbi.org/CHSOverview"; rdfs:comment "The study recruited 5,888 adults aged 65 or older at entry in four U.S. communities" . _:e782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244700"; "Circulating Soluble CD163, Associations With Cardiovascular Outcomes and Mortality, and Identification of Genetic Variants in Older Individuals: The Cardiovascular Health Study."; "PMID:36314488", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36314488+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Methods and Results We measured plasma sCD163 in 5214 adults (aged ≥65 years, 58.7% women, 16.2% Black) of the CHS (Cardiovascular Health Study)." . _:e792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of men and women aged 65 years and older sampled from Medicare eligibility lists in four US communities (Forsyth County, North Carolina; Sacramento County, California; Washington County, Maryland; Pittsburgh, Pennsylvania) from 1989, with mostly Black participants added in 1992–1993, to identify factors related to the onset and course of coronary heart disease and stroke in older adults."; "PMID:1669507", "PMID:36314488"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5888; "total cohort: original 5201 (1989-1990 recruitment) plus 687 mostly Black participants (1992-1993)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9673628/fullTextXML"; rdfs:comment "Between 1992 and 1993, an additional 687 mostly Black participants were recruited for a total cohort of 5888." . _:e7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3396; , ; , ; , , , , , , ; "GCST90454571"; "A community-based, multi-generational cohort begun in 1948 with the Original Cohort of 5,209 men and women aged 30–62, a random sample of the adult population of Framingham, Massachusetts, and extended by the Offspring Cohort of 5,124 of their children and the children's spouses (1971), the Third Generation Cohort of 4,095 grandchildren (2002–2005), the New Offspring Spouse Cohort (2003–2005) and the ethnically diverse Omni cohorts, begun in 1994 among residents of Framingham and surrounding towns and extended in 2003–2005, all examined approximately every 2–4 years to define cardiovascular disease risk factors and, increasingly, the genetic and molecular epidemiology of cardiovascular and other diseases."; "The acronym FHS also denotes NHLBI Family Heart Study (COHO:0000582); this term is Framingham Heart Study."@en; 5209; "FHS", "Framingham", "Framingham Heart", "Framingham Study"; ; rdfs:label "Framingham Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3396 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3396; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26705418+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Whereas the FHS was originally conceived and designed to study the epidemiology of cardiovascular disease, it has evolved over the years with staggering expanded breadth and depth that have far greater implications in the study of the epidemiology of a wide spectrum of human diseases." . _:e7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39350372+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Framingham Heart Study, which is a longitudinal, multi-generational community-based cohort based in Framingham, Massachusetts, USA." . _:e7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454571"; "A Genome-Wide Interaction Study of Erythrocyte ω-3 Polyunsaturated Fatty Acid Species and Memory in the Framingham Heart Study Offspring Cohort."; "PMID:38141771", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38141771+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Offspring cohort from the Framingham Heart Study was cross-sectionally analyzed in this genome-wide interaction study (GWIS)." . _:e7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based, multi-generational cohort begun in 1948 with the Original Cohort of 5,209 men and women aged 30–62, a random sample of the adult population of Framingham, Massachusetts, and extended by the Offspring Cohort of 5,124 of their children and the children's spouses (1971), the Third Generation Cohort of 4,095 grandchildren (2002–2005), the New Offspring Spouse Cohort (2003–2005) and the ethnically diverse Omni cohorts, begun in 1994 among residents of Framingham and surrounding towns and extended in 2003–2005, all examined approximately every 2–4 years to define cardiovascular disease risk factors and, increasingly, the genetic and molecular epidemiology of cardiovascular and other diseases."; "PMID:26705418", "https://www.framinghamheartstudy.org/fhs-about/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5209; "Original Cohort only (1948); not the whole multi-generation study"; "https://www.framinghamheartstudy.org/fhs-about/"; rdfs:comment "The Original Cohort of the Framingham Heart Study consisted of 5,209 respondents of a random sample of 2/3 of the adult population of Framingham, Massachusetts, 30 to 62 years of age by household, in 1948." . _:e812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHS"; . a owl:NamedIndividual, ; , ; ; "GCST90829960"; "An ongoing population-based cohort of people aged 30 or above living in two geographically defined areas of Bonn, Germany, invited in random order by the German Centre for Neurodegenerative Diseases (DZNE) for deep phenotyping, imaging and omics studies of health and ageing."; 8318; "Rheinland Studie", "Rhineland", "The Rhineland Study"; ; rdfs:label "Rhineland Study"@en . _:e822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13135507/fullTextXML"; rdfs:comment "We used data from the Rhineland Study, an ongoing population-based cohort study in Bonn, Germany, to perform a GWAS on circulating complex lipid levels and composition measured using the Metabolon Complex Lipids Platform." . _:e832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90829960"; "Population-based genome-wide association study of plasma complex lipid species."; "PMID:42069741", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42069741+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Thus, we perform genome-wide association studies on 970 lipid species and 267 fatty acid composite measures using samples from the population-based Rhineland Study (n = 6096)." . _:e842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing population-based cohort of people aged 30 or above living in two geographically defined areas of Bonn, Germany, invited in random order by the German Centre for Neurodegenerative Diseases (DZNE) for deep phenotyping, imaging and omics studies of health and ageing."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13135507/fullTextXML", "https://www.rheinland-studie.de/en/the-study/background/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8318; "participants enrolled before 26 November 2021 (interim; recruitment ongoing)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13135507/fullTextXML"; rdfs:comment "We included Rhineland Study participants who enrolled before the 26th of November 2021 (n = 8318), and who had complete lipidomic and genetic data available (n = 6096)." . _:e862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rhineland"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3408, _:genid-371333f489424440b12a13b9d98ced822608-genid3410, _:genid-371333f489424440b12a13b9d98ced822608-genid3412, _:genid-371333f489424440b12a13b9d98ced822608-genid3414; , ; ; "GCST90829960"; "A population-based prospective cohort of 27,548 adults from Potsdam and the surrounding area in eastern Germany, drawn at random from the population registers and recruited in 1994–1998, when the women were 35–64 and the men 40–64 years old; one of the two German centres of the European Prospective Investigation into Cancer and Nutrition (the other is EPIC-Heidelberg), run by the German Institute of Human Nutrition Potsdam-Rehbruecke to study diet, nutritional status and lifestyle in relation to the incidence of cancer and other chronic diseases such as type 2 diabetes."; 27548; "EPIC-Potsdam", "EPICPotsdam", "European Investigation into Cancer and Nutrition, Potsdam study", "European Prospective Investigation of Cancer-Potsdam"; ; rdfs:label "European Prospective Investigation into Cancer and Nutrition-Potsdam"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3408 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3410 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3412 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3414 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:e872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3408; "lifestyle and environmental factors"; "https://www.dife.de/en/research/cooperations/epic-study/"; rdfs:comment "EPIC was developed to examine the relationships between diet, nutritional status, lifestyle and environmental factors, as well as the incidence of cancer and other chronic diseases lilke type 2 diabetes." . _:e882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3410; "diet"; "https://www.dife.de/en/research/cooperations/epic-study/"; rdfs:comment "EPIC was developed to examine the relationships between diet, nutritional status, lifestyle and environmental factors, as well as the incidence of cancer and other chronic diseases lilke type 2 diabetes." . _:e892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3412; "nutritional status"; "https://www.dife.de/en/research/cooperations/epic-study/"; rdfs:comment "EPIC was developed to examine the relationships between diet, nutritional status, lifestyle and environmental factors, as well as the incidence of cancer and other chronic diseases lilke type 2 diabetes." . _:e8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3414; "cancer"; "https://www.dife.de/en/research/cooperations/epic-study/"; rdfs:comment "EPIC was developed to examine the relationships between diet, nutritional status, lifestyle and environmental factors, as well as the incidence of cancer and other chronic diseases lilke type 2 diabetes." . _:e8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3554384/fullTextXML"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam is part of the ongoing multicenter EPIC study and comprises 27,548 participants from the general population in the area of Potsdam in eastern Germany who were mainly 35–65 years of age at time of recruitment between 1994 and 1998 (17)." . _:e8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3554384/fullTextXML"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam is part of the ongoing multicenter EPIC study and comprises 27,548 participants from the general population in the area of Potsdam in eastern Germany who were mainly 35–65 years of age at time of recruitment between 1994 and 1998 (17)." . _:e8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90829960"; "Population-based genome-wide association study of plasma complex lipid species."; "PMID:42069741", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42069741+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We validate our findings using corresponding data from two other independent cohorts, including FinnGen (n = 7266) and EPIC-Potsdam (n = 1188)." . _:e8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of 27,548 adults from Potsdam and the surrounding area in eastern Germany, drawn at random from the population registers and recruited in 1994–1998, when the women were 35–64 and the men 40–64 years old; one of the two German centres of the European Prospective Investigation into Cancer and Nutrition (the other is EPIC-Heidelberg), run by the German Institute of Human Nutrition Potsdam-Rehbruecke to study diet, nutritional status and lifestyle in relation to the incidence of cancer and other chronic diseases such as type 2 diabetes."; "PMID:23043162", "https://www.dife.de/en/research/cooperations/epic-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27548; "adults from the general population recruited 1994-1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3554384/fullTextXML"; rdfs:comment "The European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam is part of the ongoing multicenter EPIC study and comprises 27,548 participants from the general population in the area of Potsdam in eastern Germany who were mainly 35–65 years of age at time of recruitment between 1994 and 1998 (17)." . _:e902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-Potsdam"; . _:e912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPICPotsdam"; . a owl:NamedIndividual, ; ; , ; , , ; "GCST90461825"; "A multicentre community-based cohort of 16,415 men and women aged 18–74 who self-identify as Hispanic or Latino, of Mexican, Puerto Rican, Dominican, Cuban and Central and South American background, recruited in 2008–2011 through two-stage random sampling of households in defined communities in the Bronx, Chicago, Miami and San Diego in the United States, to study the prevalence of and risk factors for heart, lung, blood and sleep disorders, diabetes, kidney and liver function and other chronic conditions, and the health effects of immigration and acculturation."; 16415; "HCHS", "HCHS-SOL", "HCHS/SOL", "HCHS_SOL", "Hispanic Community Health Study", "Hispanic Community Health Study / Study of Latinos", "Hispanic Community Health Study and Study of Latinos", "Hispanics Community Health Study/Study of Latinos", "SOL", "Study of Latinos"; ; rdfs:label "Hispanic Community Health Study/Study of Latinos"@en . _:e922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20609343+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "PurposeThe Hispanic Community Health Study (HCHS)/Study of Latinos (SOL) is a comprehensive multicenter community based cohort study of Hispanics/Latinos in the United States.MethodsThe Study rationale, objectives, design, and implementation are described in this report.ResultsThe HCHS/SOL will recruit 16,000 men and women who self-identify as Hispanic or Latino, 18 to 74 years of age, from a random sample of households in defined communities in the Bronx, Chicago, Miami, and San Diego." . _:e932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90461825"; "Genome-wide association study reveals shared and distinct genetic architecture of fatty acids and oxylipins in the Hispanic Community Health Study/Study of Latinos."; "PMID:39644095", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39644095+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study (GWAS) of 81 fatty acids and oxylipins in 11,584 Hispanic Community Health Study/Study of Latinos (HCHS/SOL) participants with genetic and lipidomic data measured at study baseline (58.6% female, mean age = 46.1 years (standard deviation 13.8))." . _:e942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre community-based cohort of 16,415 men and women aged 18–74 who self-identify as Hispanic or Latino, of Mexican, Puerto Rican, Dominican, Cuban and Central and South American background, recruited in 2008–2011 through two-stage random sampling of households in defined communities in the Bronx, Chicago, Miami and San Diego in the United States, to study the prevalence of and risk factors for heart, lung, blood and sleep disorders, diabetes, kidney and liver function and other chronic conditions, and the health effects of immigration and acculturation."; "PMID:20609343", "PMID:39644095"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16415; "adults aged 18-74 recruited 2008-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11751521/fullTextXML"; rdfs:comment "A total of 16,415 participants of Mexican, Puerto Rican, Dominican, Cuban, and Central and South American background aged 18–74 years were recruited from four U.S. cities between 2008 and 2011: Bronx, NY; Chicago, IL; Miami, FL; and San Diego, CA." . _:e962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCHS"; . _:e972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCHS-SOL"; . _:e982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCHS/SOL"; . _:e992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCHS_SOL"; . _:e9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOL"; . a owl:NamedIndividual, ; , ; "GCST90023981"; "A community-based longitudinal cohort of residents of the town and Shire of Busselton in south-western Western Australia, surveyed since 1966 and including related and unrelated individuals of predominantly European ancestry, whose 1994/95 follow-up provided blood samples for genetic studies of cardiovascular, respiratory and metabolic traits."; "The acronym BHS also denotes Bogalusa Heart Study (COHO:0000464) and Baependi Heart Study (COHO:0000623); this term is Busselton Health Study."@en; 20000; "BHS", "BSN"; ; rdfs:label "Busselton Health Study"@en . _:e9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9170690/fullTextXML"; rdfs:comment "The BHS is a community-based study in Western Australia that includes both related and unrelated individuals (predominantly of European ancestry) and has been described in more detail elsewhere46–48." . _:e9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90023981"; "Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease."; "PMID:35668104", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35668104+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We quantified 596 lipid species in serum from 4,492 individuals from the Busselton Health Study." . _:e9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based longitudinal cohort of residents of the town and Shire of Busselton in south-western Western Australia, surveyed since 1966 and including related and unrelated individuals of predominantly European ancestry, whose 1994/95 follow-up provided blood samples for genetic studies of cardiovascular, respiratory and metabolic traits."; "PMID:24099269", "PMID:35668104"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:e9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "Busselton residents who took part in surveys and clinical assessments since 1966 (stated as 'more than 20,000', a lower bound)"; "https://bpmri.org.au/about-us.html"; rdfs:comment "Since its inception in 1966, more than 20,000 Busselton residents have participated in surveys and clinical assessments, contributing to over 600 scientific publications and major medical breakthroughs, including early genetic insights into asthma and hereditary haemochromatosis." . _:e9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHS"; . _:ea02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3438; , ; , ; ; "GCST90670368"; "A Swedish research infrastructure combining two large ongoing population-based cohorts, the Cohort of Swedish Men and the Swedish Mammography Cohort, whose randomly selected subsamples from Västmanland and Uppsala were clinically examined with genotyping and biosampling for life-course studies of health."; 107000; "SIMPLER"; , ; rdfs:label "Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid3438 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ea12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3438; "dietary and lifestyle factors"; "https://www.simpler4health.se/w/sh/en"; rdfs:comment "SIMPLER is an infrastructure with the purpose of providing national and international researchers with data for research about dietary and lifestyle factors as well as genetics, and how they affect our health, particularly in the latter part of life." . _:ea22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "The Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research (SIMPLER; https://www.simpler4health.se/w/sh/en) includes data from two large, ongoing population-based studies: the Cohort of Swedish Men (COSM) and the Swedish Mammography Cohort (SMC)58." . _:ea32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "The Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research (SIMPLER; https://www.simpler4health.se/w/sh/en) includes data from two large, ongoing population-based studies: the Cohort of Swedish Men (COSM) and the Swedish Mammography Cohort (SMC)58." . _:ea42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "c, Map with the study sites for the discovery studies in Sweden (SCAPIS, SIMPLER-V, SIMPLER-U and MOS) and the replication cohort in Norway (HUNT), including the sample size and proportion of female participants in each study." . _:ea52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90670368"; "Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation."; "PMID:41688638", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "The Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research (SIMPLER; https://www.simpler4health.se/w/sh/en) includes data from two large, ongoing population-based studies: the Cohort of Swedish Men (COSM) and the Swedish Mammography Cohort (SMC)58." . _:ea62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Swedish research infrastructure combining two large ongoing population-based cohorts, the Cohort of Swedish Men and the Swedish Mammography Cohort, whose randomly selected subsamples from Västmanland and Uppsala were clinically examined with genotyping and biosampling for life-course studies of health."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ea72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 107000; "participants of the two member cohorts (SMC and COSM) combined (approximately)"; "https://www.simpler4health.se/w/sh/en/about-us"; rdfs:comment "In total, the two cohorts consist of approximately 107,000 participants, and at the assessment in 2019, approximately 38,000 participants responded." . _:ea82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIMPLER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3447, _:genid-371333f489424440b12a13b9d98ced822608-genid3449, _:genid-371333f489424440b12a13b9d98ced822608-genid3451; , ; "GCST90837374", "MTBLS407"; "A national multicentre population-based cohort of 30,154 Swedish men and women aged 50–64, randomly recruited in 2013–2018 from the national population register in six areas adjacent to six Swedish university hospitals and characterised with imaging, large-scale omics and epidemiological data to improve risk prediction of cardiopulmonary diseases and study their mechanisms."; 30154; "SCAPIS"; , ; rdfs:label "Swedish CArdioPulmonary bioImage Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3447 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3449 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3451 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ea92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3447; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4744991/fullTextXML"; rdfs:comment "The Swedish CArdioPulmonary BioImage Study (SCAPIS) was initiated as a major joint national effort in Sweden to reduce mortality and morbidity from cardiovascular disease (CVD), chronic obstructive pulmonary disease (COPD) and related metabolic disorders, all of which are important issues for public health." . _:eaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3449; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4744991/fullTextXML"; rdfs:comment "The Swedish CArdioPulmonary BioImage Study (SCAPIS) was initiated as a major joint national effort in Sweden to reduce mortality and morbidity from cardiovascular disease (CVD), chronic obstructive pulmonary disease (COPD) and related metabolic disorders, all of which are important issues for public health." . _:eab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3451; "metabolic disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4744991/fullTextXML"; rdfs:comment "The Swedish CArdioPulmonary BioImage Study (SCAPIS) was initiated as a major joint national effort in Sweden to reduce mortality and morbidity from cardiovascular disease (CVD), chronic obstructive pulmonary disease (COPD) and related metabolic disorders, all of which are important issues for public health." . _:eac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26096600+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Swedish CArdioPulmonarybioImage Study (SCAPIS) combines the use of new imaging technologies, advances in large-scale 'omics' and epidemiological analyses to extensively characterize a Swedish cohort of 30 000 men and women aged between 50 and 64 years." . _:ead2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837374"; "Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers."; "PMID:42634071", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42634071+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study (GWAS) of CT-based emphysema, with a particular focus on non-smoking-related genetic determinants.MethodsWe analyzed 25,639 individuals of European ancestry from the SCAPIS national cohort, aged 50-65 years, of which 51% were never-smokers." . _:eae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS407"; "An online atlas of human plasma metabolite signatures of gut microbiome composition."; "PMID:36151114", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS407"; rdfs:comment "In this cross-sectional study, we used deep metagenomic sequencing and ultra-high-performance liquid chromatography linked to mass spectrometry for a detailed characterization of the gut microbiota and plasma metabolome, respectively, of 8583 participants invited at age 50 to 64 from the population-based Swedish CArdioPulmonary bioImage Study." . _:eaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national multicentre population-based cohort of 30,154 Swedish men and women aged 50–64, randomly recruited in 2013–2018 from the national population register in six areas adjacent to six Swedish university hospitals and characterised with imaging, large-scale omics and epidemiological data to improve risk prediction of cardiopulmonary diseases and study their mechanisms."; "PMID:26096600", "PMID:40164586"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:eb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30154; "men and women aged 50-64 recruited 2013-2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11958696/fullTextXML"; rdfs:comment "Between 2013 and 2018, 30,154 subjects aged 50–64 were randomly recruited from the national population register in six areas adjacent to six Swedish university hospitals." . _:eb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCAPIS"; . a owl:NamedIndividual, ; , ; "GCST90670368"; "A family-based cohort of the adult children and grandchildren of participants in the Malmö Diet and Cancer Study–Cardiovascular Cohort in Malmö, Sweden, identified from Swedish Tax Agency registers and invited by mail, and examined from 2013 (4,721 participants aged 18–71 by 2020) with genotyping and cardiovascular, respiratory, metabolic, cognitive, dietary and gut and oral microbiota phenotyping, to study family traits of chronic disease across three generations."; 4721; "MOS"; ; rdfs:label "Malmö Offspring Study"@en . _:eb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "c, Map with the study sites for the discovery studies in Sweden (SCAPIS, SIMPLER-V, SIMPLER-U and MOS) and the replication cohort in Norway (HUNT), including the sample size and proportion of female participants in each study." . _:eb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90670368"; "Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation."; "PMID:41688638", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "The Malmö offspring study (MOS) includes participants aged ≥18 years who are children or grandchildren of participants from the Malmö Diet and Cancer Study (MDC)—cardiovascular cohort, a subset of the larger MDC59." . _:eb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based cohort of the adult children and grandchildren of participants in the Malmö Diet and Cancer Study–Cardiovascular Cohort in Malmö, Sweden, identified from Swedish Tax Agency registers and invited by mail, and examined from 2013 (4,721 participants aged 18–71 by 2020) with genotyping and cardiovascular, respiratory, metabolic, cognitive, dietary and gut and oral microbiota phenotyping, to study family traits of chronic disease across three generations."; "PMID:33222051", "PMID:41688638"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:eb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4721; "participants examined 2013-2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12987725/fullTextXML"; rdfs:comment "Data collection in MOS began in 2013 and included 4,721 participants by 2020." . _:eb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3464, _:genid-371333f489424440b12a13b9d98ced822608-genid3466; , ; , , ; "GCST90139389"; "A population-based cohort of 10,197 middle-aged and older Finnish men from a single site in north-eastern Finland, examined in 2005–2010 with detailed metabolic phenotyping, oral glucose tolerance tests, metabolomics and extensive genotyping and sequencing, and followed up to study nongenetic and genetic risk factors for type 2 diabetes and cardiovascular disease."; 10197; "Finnish Metabolic Syndrome In Men", "METSIM", "Metabolic Syndrome In Men", "Metabolic Syndrome in Men"; ; rdfs:label "Metabolic Syndrome in Men Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3464 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3466 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:eb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3464; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8960770/fullTextXML"; rdfs:comment "METSIM is a study of 10,197 Finnish men from Kuopio in the late-settlement region of northeast Finland designed to investigate factors associated with type 2 diabetes and cardiovascular diseases3 (Supplementary Table 2)." . _:eb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3466; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8960770/fullTextXML"; rdfs:comment "METSIM is a study of 10,197 Finnish men from Kuopio in the late-settlement region of northeast Finland designed to investigate factors associated with type 2 diabetes and cardiovascular diseases3 (Supplementary Table 2)." . _:eb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28119442+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Metabolic Syndrome in Men (METSIM) study is a population-based study including 10,197 Finnish men examined in 2005-2010." . _:eba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90139389"; "Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci."; "PMID:35347128", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8960770/fullTextXML"; rdfs:comment "Here, we do so, reporting genome-wide association study (GWAS) results for 1391 plasma metabolites (Metabolon platform) in 6136 participants in METSIM, a study of middle-aged and older men recruited from a single site in late-settlement northeast Finland3, who were part of our previous study2." . _:ebb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 10,197 middle-aged and older Finnish men from a single site in north-eastern Finland, examined in 2005–2010 with detailed metabolic phenotyping, oral glucose tolerance tests, metabolomics and extensive genotyping and sequencing, and followed up to study nongenetic and genetic risk factors for type 2 diabetes and cardiovascular disease."; "PMID:28119442", "PMID:35347128"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ebc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10197; "Finnish men examined at baseline 2005-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28119442+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Metabolic Syndrome in Men (METSIM) study is a population-based study including 10,197 Finnish men examined in 2005-2010." . _:ebd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METSIM"; . a owl:NamedIndividual, ; , ; ; ; "GCST90667550"; "A national whole-genome sequencing programme of the Qatar Foundation that sequences volunteers from the Qatar Biobank and combines their genomes with the biobank's phenotype data to study the Qatari and wider Arab and Middle Eastern populations at the molecular level."; 14392; "QGP", "Qatar Genome Program (QGP)", "Qatar Genome Project"; , ; rdfs:label "Qatar Genome Program"@en . _:ebe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11000384/fullTextXML"; rdfs:comment "The study cohort consists of 6218 subjects from the Qatar Biobank project [30, 31], a national project that collects phenotype data and biological samples from the local population of Qatar." . _:ebf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11000384/fullTextXML"; rdfs:comment "We combine genome sequencing (WGS) data and clinically relevant phenotypic traits for 6045 healthy volunteers from the Qatar Biobank (QBB) released as part of Qatar Genome Program (QGP) [28]." . _:ec02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90667550"; "Rare-Variant Genome-Wide Association and Polygenic Score Assessment of Vitamin D Status in a Middle Eastern Population."; "PMID:41096749", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12524746/fullTextXML"; rdfs:comment "Comparison of allele frequencies revealed that rs2605913 was present at 8.8% in the QGP cohort but occurred more frequently in the European dataset of 1000 Genomes (34.4%) (Table S2)." . _:ec12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national whole-genome sequencing programme of the Qatar Foundation that sequences volunteers from the Qatar Biobank and combines their genomes with the biobank's phenotype data to study the Qatari and wider Arab and Middle Eastern populations at the molecular level."; "PMID:33623009", "PMID:34428338", "PMID:38550311", "PMID:39020067"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ec22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14392; "Qatari participants with whole genomes analysed in a 2024 study (the latest stated QGP sequenced set; not stated as the programme's total)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11576737/fullTextXML"; rdfs:comment "This study was based on a cohort of 14,392 Qatari participants from the population based QGP [16]." . _:ec32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QGP"; . _:ec42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Qatar Genome Program (QGP)"; . a owl:NamedIndividual, ; , ; , ; , ; "GCST90666541"; "A population-based cohort of the adult population of Trøndelag County, Norway, in which all residents of Nord-Trøndelag aged 20 or over have been invited to repeated surveys since 1984–86, extended to Sør-Trøndelag in 2017–19, collecting questionnaires, interviews, clinical examinations, laboratory measurements and biological samples on a broad range of health topics."; 230617; "HUNT", "HUNT Study", "Nord-Trøndelag Health Study"; ; rdfs:label "Trøndelag Health Study"@en . _:ec52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908054/fullTextXML"; rdfs:comment "In the HUNT Study, all residents aged ≥20 years in the Nord-Trøndelag region, Norway, have been invited to repeated surveys since 1984-86." . _:ec62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90666541"; "The HUNT study identifies host genetic factors reproducibly associated with human gut microbiota composition."; "PMID:41688637", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41688637+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we conducted a genome-wide association study of host genetic factors influencing gut microbiota composition in 12,652 individuals from the Trøndelag Health Study (HUNT), with replication in Nordic cohorts (n = 16,017-21,976)." . _:ec72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of the adult population of Trøndelag County, Norway, in which all residents of Nord-Trøndelag aged 20 or over have been invited to repeated surveys since 1984–86, extended to Sør-Trøndelag in 2017–19, collecting questionnaires, interviews, clinical examinations, laboratory measurements and biological samples on a broad range of health topics."; "PMID:35578897"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ec82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 230617; "individuals who participated in one or more HUNT surveys (HUNT1-HUNT4, including HUNT4-S), 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908054/fullTextXML"; rdfs:comment "With the completion of HUNT4-S, 230 617 individuals have participated in one or more of the HUNT surveys." . _:ec92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUNT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3485; , ; "GCST90709872"; "A US cohort, launched by the Simons Foundation Autism Research Initiative (SFARI), of individuals living in the United States with a professional diagnosis of autism spectrum disorder together with their parents and an unaffected sibling, recruited nationwide through 21 clinical sites and social media and taking part remotely online, with questionnaires and saliva samples for genetic analysis (exome sequencing and genome-wide genotyping, later also whole-genome sequencing). It collects genomic, environmental and longitudinal behavioural and medical data, returns genetic results to participants, and recontacts them and connects them with researchers for new studies; it enrolled 18,089 individuals with autism and 28,515 of their family members in its first 12 months of recruitment, to May 2017."; "SPARK", "Simons Foundation Powering Autism Research"; ; rdfs:label "Simons Foundation Powering Autism Research for Knowledge"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3485 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:eca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3485; "autism spectrum disorder"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7444276/unicode"; rdfs:comment "Any individual living in the United States with a professional diagnosis (by a physician, psychologist, or therapist) of ASD plus their parents and an unaffected sibling are eligible to participate in SPARK." . _:ecb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7444276/unicode"; rdfs:comment "Any individual living in the United States with a professional diagnosis (by a physician, psychologist, or therapist) of ASD plus their parents and an unaffected sibling are eligible to participate in SPARK." . _:ecc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709872"; "Human and bacterial genetic variation shape oral microbiomes and health."; "PMID:41606319", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12979206/fullTextXML"; rdfs:comment "To create a dataset suitable for exploring variation in the oral microbiome and the way it is shaped by human genetic variation, we analysed DNA sequencing reads previously generated from whole-genome sequencing (WGS) of saliva samples from 12,519 participants in the Simons Foundation Powering Autism Research (SPARK) cohort25 (Fig. 1a), building on previous work26,27." . _:ecd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A US cohort, launched by the Simons Foundation Autism Research Initiative (SFARI), of individuals living in the United States with a professional diagnosis of autism spectrum disorder together with their parents and an unaffected sibling, recruited nationwide through 21 clinical sites and social media and taking part remotely online, with questionnaires and saliva samples for genetic analysis (exome sequencing and genome-wide genotyping, later also whole-genome sequencing). It collects genomic, environmental and longitudinal behavioural and medical data, returns genetic results to participants, and recontacts them and connects them with researchers for new studies; it enrolled 18,089 individuals with autism and 28,515 of their family members in its first 12 months of recruitment, to May 2017."; "PMID:29420931", "PMID:41606319"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ece2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPARK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3491; , ; "GCST90257106"; "A multicentre prospective observational cohort of 5,499 racially and ethnically diverse adults with chronic kidney disease, recruited at seven clinical centres in the United States in two phases, 2003–2008 (adults aged 21 to 74 with an estimated glomerular filtration rate of 20–70 mL/min/1.73 m²) and 2013–2015 (adults aged 45 to 79 with more preserved kidney function, eGFR 45–70), and followed with annual clinic visits, six-monthly telephone contacts and annual blood and urine collection to examine risk factors for the progression of chronic kidney disease and cardiovascular disease."; 5499; "CRIC", "CRIC Study", "Chronic Renal Insufficiency Cohort"; ; rdfs:label "Chronic Renal Insufficiency Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3491 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ecf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3491; "chronic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33177074+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Chronic Renal Insufficiency Cohort (CRIC) Study is an ongoing, multicenter, longitudinal study of nearly 5500 adults with CKD in the United States." . _:ed02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33177074+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Chronic Renal Insufficiency Cohort (CRIC) Study is an ongoing, multicenter, longitudinal study of nearly 5500 adults with CKD in the United States." . _:ed12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90257106"; "Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study."; "PMID:35120996", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35120996+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we conducted a GWAS of 537 blood metabolites measured in the Chronic Renal Insufficiency Cohort (CRIC) Study, with separate analyses in 822 White and 687 Black study participants." . _:ed22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective observational cohort of 5,499 racially and ethnically diverse adults with chronic kidney disease, recruited at seven clinical centres in the United States in two phases, 2003–2008 (adults aged 21 to 74 with an estimated glomerular filtration rate of 20–70 mL/min/1.73 m²) and 2013–2015 (adults aged 45 to 79 with more preserved kidney function, eGFR 45–70), and followed with annual clinic visits, six-monthly telephone contacts and annual blood and urine collection to examine risk factors for the progression of chronic kidney disease and cardiovascular disease."; "PMID:12819321", "PMID:35175342", "PMID:42318085"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ed32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5499; "adults with CKD enrolled in phases 1 (2003-2008) and 3 (2013-2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8855239/fullTextXML"; rdfs:comment "The Chronic Renal Insufficiency Cohort (CRIC) Study is a multicenter observational cohort study that enrolled 5499 adults from 7 clinical centers across the US." . _:ed42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRIC"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90128424"; "A consortium of principal investigators of cohort studies from the general population, clinical trials and disease-specific patient collections that have Olink proteomics and genome-wide genotyping data, combining summary-level data to discover and follow up genetic associations with plasma protein levels (pQTLs) and identify causal protein biomarkers of disease."; 78664; "SCALLOP", "SCALLOP Consortium", "Systematic and Combined AnaLysis of Olink Proteins"; ; rdfs:label "Systematic and Combined Analysis of Olink Proteins"@en . _:ed52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The Advanced Study of Aortic Pathology" . _:ed62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Barn/Child, Allergy, Milieu, Stockholm, Epidemiology (Genotyping Wave 1)" . _:ed72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "Cooperative Health Research in the Region of Augsburg" . _:ed82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "DIabetes REsearCh on patient straTification" . _:ed92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The Estonian Biobank cohort is a volunteer-based sample of the Estonian resident adult population" . _:eda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "European Investigation into Cancer and Nutrition" . _:edb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "The Northern Sweden Population Health Study" . _:edc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "The Orkney Complex Disease Study" . _:edd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The PROCARDIS study was funded by 6th Framework Programme of the European Union" . _:ede2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Prospective investigation of the Vascularture in Uppsala Seniors" . _:edf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Rotterdam Study III" . _:ee02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "the Sahlgrenska Academy Study on Ischemic Stroke" . _:ee12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "STANLEY / SWEBIC" . _:ee22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The Fenland study is a population-based cohort study of 12,435 participants" . _:ee32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "HELIC MANOLIS" . _:ee42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "The INTERVAL study" . _:ee52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Uppsala Longitudinal Study of Adult Men" . _:ee62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The LifeLines-DEEP cohort (LLD) is a sub-cohort of 1,539 participants from the LifeLines study." . _:ee72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The Framingham Heart Study is a community-based longitudinal study established in 1948" . _:ee82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9047645/supplementaryFiles"; rdfs:comment "WHI" . _:ee92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "http://www.scallop-consortium.com/"; rdfs:comment "Kadoorie biobank Pancreatic cancer 1400 1" . _:eea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "http://www.scallop-consortium.com/"; rdfs:comment "CARDIA Prospective, young adults 2000 2" . _:eeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "HELIC POMAK" . _:eec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "Epidemiological Investigation of Rheumatoid Arthritis" . _:eed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "the Stabilization of Atherosclerotic Plaque by Initiation of Darapladib Therapy trial" . _:eee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "Swedish BioFinder study" . _:eef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "The CROATIA-Vis study includes 1,008 Croatians" . _:ef02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Relationship between Insulin Sensitivity and Cardiovascular disease" . _:ef12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Swedish Mammography Cohort Clinical, a subcohort within the national research infrastructure SIMPLER" . _:ef22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Lothian Birth Cohort 1936" . _:ef32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Malmö Preventive Project" . _:ef42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/supplementaryFiles"; rdfs:comment "Cohort of Swedish Men - Clinical, a subcohort within the national research infrastructure SIMPLER" . _:ef52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC7611474"; rdfs:comment "Co-localisation analysis of CVD-I cis-pQTLs and mRNA levels was performed in selected tissues from the GTEx project by first imputing mRNA expression of the CVD-I protein encoding transcripts using the PrediXcan11 algorithm in one of the SCALLOP CVD-I cohorts (IMPROVE), and then testing imputed mRNA levels for association with CVD-I plasma protein levels using linear regression." . _:ef62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128424"; "Genetic Landscape of the ACE2 Coronavirus Receptor."; "PMID:35387486", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9047645/fullTextXML"; rdfs:comment "We conducted a genome-wide association meta-analysis in up to 28 204 individuals from 14 cohorts in the SCALLOP Consortium for plasma ACE2 protein measured with the Olink platform." . _:ef72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of principal investigators of cohort studies from the general population, clinical trials and disease-specific patient collections that have Olink proteomics and genome-wide genotyping data, combining summary-level data to discover and follow up genetic associations with plasma protein levels (pQTLs) and identify causal protein biomarkers of disease."; "PMID:33067605", "PMID:42097137", "http://www.scallop-consortium.com/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ef82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 78664; "participants of European ancestry in the consortium's largest pQTL meta-analysis (38 cohorts, including UK Biobank), 2026"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13343581/fullTextXML"; rdfs:comment "We performed a proteogenomic meta-analysis of 1,161 protein targets measured in blood across 38 cohorts, including up to 78,664 participants of European ancestry (Table S1A; for study design see Figure S1)." . _:ef92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCALLOP"; . a owl:NamedIndividual, ; , , ; "GCST90651113"; "A hospital-based cohort of patients of China Medical University Hospital, an academic medical centre in Taichung, Taiwan, and its affiliated hospitals, recruited through the hospital's Precision Medicine Project, begun in 2018 to collect biospecimens from patients attending for medical visits, from densely populated towns and districts across Taiwan. About 413,000 participants enrolled from 2018 to 2021 were genotyped on the custom Taiwan Precision Medicine (TPMv1) array and linked to their electronic medical records from 2003 to 2021 (the HiGenome resource; 323,397 passed ancestry and quality control), for genome-wide, phenome-wide and polygenic risk score studies in the Taiwanese Han population."; 413210; "CMUH", "CMUHPMP", "China Medical University Hospital", "China Medical University Hospital Precision Medicine Project", "HiGenome"; ; rdfs:label "China Medical University Hospital Biobank"@en . _:efa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC12136033/unicode"; rdfs:comment "CMUH is an extensive academic medical center located in Taichung, Taiwan." . _:efb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90651113"; "Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population."; "PMID:40465716", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC12136033/unicode"; rdfs:comment "Data were collected from a single institution—China Medical University Hospital (CMUH) and its affiliated branches—through a unified system encompassing nearly 19 years of EMRs." . _:efc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of patients of China Medical University Hospital, an academic medical centre in Taichung, Taiwan, and its affiliated hospitals, recruited through the hospital's Precision Medicine Project, begun in 2018 to collect biospecimens from patients attending for medical visits, from densely populated towns and districts across Taiwan. About 413,000 participants enrolled from 2018 to 2021 were genotyped on the custom Taiwan Precision Medicine (TPMv1) array and linked to their electronic medical records from 2003 to 2021 (the HiGenome resource; 323,397 passed ancestry and quality control), for genome-wide, phenome-wide and polygenic risk score studies in the Taiwanese Han population."; "PMID:36769103", "PMID:40465716"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:efd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 413210; "patients enrolled 2018-2021 (Precision Medicine Project, genotyped on TPMv1)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12136033/fullTextXML"; rdfs:comment "As of the time of this study, a total of 413,210 patients were enrolled." . _:efe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMUH"; . _:eff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMUHPMP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3541; , ; , ; , ; "GCST90308732"; "A pair of harmonized longitudinal clinical-pathologic cohort studies of aging and Alzheimer's disease run at Rush University, the Religious Orders Study (from 1994, nuns, priests and brothers from across the United States) and the Rush Memory and Aging Project (from 1997, lay persons from northeastern Illinois), whose older participants enrol without dementia and agree to annual clinical evaluations and organ donation."; 3414; "ROS/MAP", "ROSMAP", "ROSMAP 1", "ROSMAP 2", "Religious Orders Study/Rush Memory and Aging Project", "Rush", "Rush University Religious Orders Study and Memory and Aging Project"; ; rdfs:label "Religious Orders Study and Rush Memory and Aging Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3541 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3541; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29865057+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Religious Orders Study and Rush Memory and Aging Project are both ongoing longitudinal clinical-pathologic cohort studies of aging and Alzheimer's disease (AD)." . _:f012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6380522/unicode"; rdfs:comment "The Religious Orders Study (ROS) and Rush Memory and Aging Project (MAP) began in 1994 and 1997 respectively (together referred to as ROSMAP)." . _:f022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6380522/unicode"; rdfs:comment "The Religious Orders Study (ROS) and Rush Memory and Aging Project (MAP) began in 1994 and 1997 respectively (together referred to as ROSMAP)." . _:f032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6380522/unicode"; rdfs:comment "ROS started in 1994 and enrolls nuns priests and brothers from across the United States." . _:f042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308732"; "A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores."; "PMID:37349795", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10286470/fullTextXML"; rdfs:comment "This study included non-Hispanic white participants of the Framingham Heart Study (FHS), National Institute on Aging sponsored Alzheimer’s Disease Research Centers whose phenotypic information was assembled and curated by the National Alzheimer’s Coordinating Center (NACC), the Adult Changes in Thought (ACT) Study, the Alzheimer’s Disease Neuroimaging Initiative (ADNI), and the Religious Orders Study/Rush Memory and Aging Project (ROSMAP)." . _:f052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pair of harmonized longitudinal clinical-pathologic cohort studies of aging and Alzheimer's disease run at Rush University, the Religious Orders Study (from 1994, nuns, priests and brothers from across the United States) and the Rush Memory and Aging Project (from 1997, lay persons from northeastern Illinois), whose older participants enrol without dementia and agree to annual clinical evaluations and organ donation."; "PMID:29865057"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3414; "persons enrolled in ROS and MAP combined, through 31 December 2017"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6380522/"; rdfs:comment "Through December 31, 2017, the studies enrolled 3,414 persons of whom 72.6% are female, 88.2% are non-Latino White, 6.3% are African American, 5.5% are Latino (including African American Latinos), and the remainder are other racial groups." . _:f072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROS/MAP"; . _:f082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROSMAP"; . _:f092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROSMAP 1"; . _:f0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROSMAP 2"; . _:f0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rush"; . a owl:NamedIndividual, ; , ; "GCST90295958"; "A clinic-based prospective cohort of about 57,000 adult Mayo Clinic patients who are US residents, enrolled at Rochester, Minnesota, Jacksonville, Florida and La Crosse, Wisconsin, established to supply control groups for case-control studies, form a prospective cohort for common outcomes and support electronic health record and genotype-driven research."; "The acronym MAYO also denotes Mayo Clinic Ovarian Cancer Case-Control Study (COHO:0002073); this term is Mayo Clinic Biobank."@en; 56862; "MAYO", "MAYO clinic biobank", "The Mayo Clinic study"; ; rdfs:label "Mayo Clinic Biobank"@en . _:f0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31699749+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were all Mayo Clinic patients, 18 years of age or older and US residents." . _:f0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90295958"; "A large meta-analysis identifies genes associated with anterior uveitis."; "PMID:37949852", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10638276/fullTextXML"; rdfs:comment "We also included 115,418 participants from the MAYO-RGC Project Generation, which brings together the Mayo Clinic Biobank (N = 53,227)49 as well as 30 Mayo-based disease registries/studies who were successfully sequenced." . _:f0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based prospective cohort of about 57,000 adult Mayo Clinic patients who are US residents, enrolled at Rochester, Minnesota, Jacksonville, Florida and La Crosse, Wisconsin, established to supply control groups for case-control studies, form a prospective cohort for common outcomes and support electronic health record and genotype-driven research."; "PMID:31699749"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 56862; "adult patients enrolled 2009 to 31 March 2016 (after 159 withdrawals)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6858142/fullTextXML"; rdfs:comment "Prior to the close of the active enrolment, 159 participants withdrew from the Biobank, leaving a total of 56 862 participants enrolled in the Mayo Clinic Biobank as of 31 March 2016." . _:f102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3559; , ; "GCST90452968"; "A Danish cohort of children and adolescents, formerly called The Danish Childhood Obesity Biobank, run since 2009 from the Children's Obesity Clinic at Copenhagen University Hospital Holbæk, that combines an obesity clinic cohort with a BMI above the 90th percentile, included continuously and followed longitudinally during multidisciplinary obesity treatment, with a population-based reference cohort recruited cross-sectionally from schools in 11 municipalities in Zealand; by 2020 it held data on more than 5,250 obesity clinic and more than 4,200 population-based participants, with biosamples, genotyping and cardiometabolic phenotyping, as a platform for research on childhood obesity and its complications."; "HOLBAEK", "TDCOB", "The Danish Childhood Obesity Biobank", "The Danish Childhood Obesity Data- and Biobank", "The Holbaek Study"; ; rdfs:label "HOLBAEK Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3559 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3559; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11754075/fullTextXML"; rdfs:comment "The study population consisted of children and adolescents from the HOLBAEK Study (previously known as The Danish Childhood Obesity Biobank),17 including an obesity clinic cohort with a BMI above the 90th percentile for sex and age (BMI standard deviation score [SDS] > 1.28) according to a Danish reference; and a population-based cohort, recruited from schools in 11 municipalities in Zealand, Denmark." . _:f122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11754075/fullTextXML"; rdfs:comment "The study population consisted of children and adolescents from the HOLBAEK Study (previously known as The Danish Childhood Obesity Biobank),17 including an obesity clinic cohort with a BMI above the 90th percentile for sex and age (BMI standard deviation score [SDS] > 1.28) according to a Danish reference; and a population-based cohort, recruited from schools in 11 municipalities in Zealand, Denmark.18" . _:f132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90452968"; "Plasma proteome variation and its genetic determinants in children and adolescents."; "PMID:39972214", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906355/fullTextXML"; rdfs:comment "Our discovery cohort included 2,147 children and adolescents aged 5–20 years from the HOLBAEK Study, 45% of whom were from the general population and 55% from the Children’s Obesity Clinic in Holbæk, Denmark (Fig. 1a)." . _:f142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish cohort of children and adolescents, formerly called The Danish Childhood Obesity Biobank, run since 2009 from the Children's Obesity Clinic at Copenhagen University Hospital Holbæk, that combines an obesity clinic cohort with a BMI above the 90th percentile, included continuously and followed longitudinally during multidisciplinary obesity treatment, with a population-based reference cohort recruited cross-sectionally from schools in 11 municipalities in Zealand; by 2020 it held data on more than 5,250 obesity clinic and more than 4,200 population-based participants, with biosamples, genotyping and cardiometabolic phenotyping, as a platform for research on childhood obesity and its complications."; "PMID:39753034", "PMID:39972214", "https://clinicaltrials.gov/api/v2/studies/NCT00928473"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOLBAEK"; . _:f162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TDCOB"; . a owl:NamedIndividual, ; , ; , ; "GCST90296696"; "A public–private partnership research project in Finland that combines genotype data from newly collected and legacy samples of about 500,000 participants of a nationwide network of Finnish biobanks with digital health data from national health registers, to provide genetic insights into disease in an isolated population enriched for low-frequency variants."; 520210; "FINNGEN", "FinnGen Biobank", "FinnGen study", "Finngen"; ; rdfs:label "FinnGen"@en . _:f172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9849126/fullTextXML"; rdfs:comment "The FinnGen study (https://www.finngen.fi/en) is an ongoing research project that utilizes samples from a nationwide network of Finnish biobanks and digital healthcare data from national health registers." . _:f182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296696"; "Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes."; "PMID:38182742", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38182742+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted the largest genome-wide association study of GDM to date in 12,332 cases and 131,109 parous female controls in the FinnGen study and identified 13 GDM-associated loci, including nine new loci." . _:f192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A public–private partnership research project in Finland that combines genotype data from newly collected and legacy samples of about 500,000 participants of a nationwide network of Finnish biobanks with digital health data from national health registers, to provide genetic insights into disease in an isolated population enriched for low-frequency variants."; "PMID:36653562", "https://www.finngen.fi/en"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 520210; "individuals with combined genotype and health registry data in the current data freeze"; "https://www.finngen.fi/en"; rdfs:comment "Current data freeze 520 210 combined genotype and health registry data" . _:f1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FINNGEN"; . _:f1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finngen"; . a owl:NamedIndividual, ; , ; ; "GCST90627781"; "A cohort of patients with rare diseases or extreme measurements of quantitative traits, their affected relatives and controls, enrolled mainly at National Health Service hospitals in the United Kingdom between 2012 and 2017 under the coordination of the NIHR BioResource at the University of Cambridge, whose whole genomes were sequenced to provide genetic diagnoses and discover aetiological variants within routine healthcare."; 13037; "BRRD", "NIHR BioResource for Rare Diseases", "NIHR BioResource-Rare Diseases", "National Institutes of Health Research BioResource-Rare Diseases Study"; ; rdfs:label "NIHR BioResource Rare Diseases Study"@en . _:f1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7610553/unicode"; rdfs:comment "We performed WGS of 13,037 individuals enrolled at 57 National Health Service (NHS) hospitals in the United Kingdom and 26 hospitals in other countries (Fig. 1a, Extended Data Fig. 1a, Supplementary Table 1), in three batches, to clinical standard (Fig. 1b)." . _:f1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7610553/unicode"; rdfs:comment "Study participants were enrolled by one of three mechanisms between December 2012 and March 2017 under the overall coordination of the National Institute for Health Research BioResource (NBR) at the University of Cambridge." . _:f1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90627781"; "Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy."; "PMID:31919107", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31919107%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We analyzed whole-genome sequence data from 165 primary membranoproliferative GN cases and 10,250 individuals without the condition (controls) as part of the National Institutes of Health Research BioResource-Rare Diseases Study." . _:f202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with rare diseases or extreme measurements of quantitative traits, their affected relatives and controls, enrolled mainly at National Health Service hospitals in the United Kingdom between 2012 and 2017 under the coordination of the NIHR BioResource at the University of Cambridge, whose whole genomes were sequenced to provide genetic diagnoses and discover aetiological variants within routine healthcare."; "PMID:32581362"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13037; "individuals enrolled and whole-genome sequenced (9,802 with a rare disease or extreme trait), 2017"; "https://europepmc.org/api/getPdf?pmcid=PMC7610553"; rdfs:comment "We performed WGS of 13,037 individuals enrolled at 57 National Health Service (NHS) hospitals in the United Kingdom and 26 hospitals in other countries (Fig. 1a, Extended Data Fig. 1a, Supplementary Table 1), in three batches, to clinical standard (Fig. 1b)." . _:f222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRRD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3578, _:genid-371333f489424440b12a13b9d98ced822608-genid3580; , ; "GCST90024610"; "A longitudinal cohort of volunteers aged over 60 in Australia, including people with Alzheimer's disease, mild cognitive impairment and healthy controls, recruited at centres in Perth and Melbourne and reassessed at 18-month intervals with cognitive testing, blood biomarkers, lifestyle questionnaires and amyloid PET and MRI imaging to study predictors of Alzheimer's disease and cognitive decline."; 2359; "ABIL", "AIBL", "Australian Imaging, Biomarker & Lifestyle study", "Australian Imaging, Biomarker and Lifestyle Flagship Study of Ageing", "Australian Imaging, Biomarkers and Lifestyle flagship study of aging", "The Australian Imaging, Biomarkers and Lifestyle Study"; ; rdfs:label "Australian Imaging, Biomarker & Lifestyle Flagship Study of Ageing"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3578 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3580 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3578; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19470201+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants with AD (211) had neuropsychological profiles which were consistent with AD, and were more impaired than participants with mild cognitive impairment (133) or healthy controls (768), who performed within expected norms for age on neuropsychological testing." . _:f242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3580; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19470201+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants with AD (211) had neuropsychological profiles which were consistent with AD, and were more impaired than participants with mild cognitive impairment (133) or healthy controls (768), who performed within expected norms for age on neuropsychological testing." . _:f252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11103763/fullTextXML"; rdfs:comment "The data were collected over a maximum of 10 time points spanned up to 18 months apart at the study centers in Perth or Melbourne." . _:f262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90024610"; "Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease."; "PMID:35668104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9170690/fullTextXML"; rdfs:comment "We performed a GWAS of the human serum lipidome (Fig. 1) in the BHS discovery cohort (4492 individuals of European ancestry) followed by validation against a meta-analysis of the two validation cohorts (ADNI and AIBL; 670 and 895 individuals of European ancestry, respectively)." . _:f272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of volunteers aged over 60 in Australia, including people with Alzheimer's disease, mild cognitive impairment and healthy controls, recruited at centres in Perth and Melbourne and reassessed at 18-month intervals with cognitive testing, blood biomarkers, lifestyle questionnaires and amyloid PET and MRI imaging to study predictors of Alzheimer's disease and cognitive decline."; "PMID:19470201", "PMID:38770381"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2359; "participants of the Inception (1,112) and Enrichment (1,247) cohorts, as of 10 April 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8293663/fullTextXML"; rdfs:comment "The evolution of the Inception cohort at baseline, 18, 36, 54, 72, 90, 108, and 126 months follow-up, was enriched with recruitment of 1,247 new participants to compensate for attrition (Enrichment cohort), yielding the current database of 2,359 participants with 8,592 person-contact years." . _:f292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABIL"; . _:f2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIBL"; . a owl:NamedIndividual, ; , ; ; "GCST90257012"; "A population-based biobank in the most northern part of Germany, run from Kiel University, that recruits patients through complete ascertainment in a geographically confined area together with population controls, covering cardiovascular, neuropsychiatric and environmental diseases, to estimate population-specific genotypic risks for complex diseases."; "Biobank PopGen", "Biobank popgen", "KIEL", "POPGEN", "PopGen", "PopGen cohort", "The Population Genetic Cohort"; ; rdfs:label "PopGen Biobank"@en . _:f2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16490960+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The PopGen project uses the most northern part of Germany as a target region for such a pursuit." . _:f2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90257012"; "A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies."; "PMID:35348614", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9976967/fullTextXML"; rdfs:comment "The control population used in this study consisted of a cohort of 1081 individuals, part of the PopGen cohort, a population-based biobank in Germany.8⁠ This subset of individuals corresponded to healthy subjects without neurological or endocrine disease, age-matched to our anti-GAD65 AINS patients, with available genotype data generated on the Infinium Global Screening Array (Illumina)." . _:f2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based biobank in the most northern part of Germany, run from Kiel University, that recruits patients through complete ascertainment in a geographically confined area together with population controls, covering cardiovascular, neuropsychiatric and environmental diseases, to estimate population-specific genotypic risks for complex diseases."; "PMID:16490960", "https://www.popgen.de/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KIEL"; . _:f2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POPGEN"; . _:f302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PopGen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3594, _:genid-371333f489424440b12a13b9d98ced822608-genid3596; , , ; "GCST90482719"; "A cohort of outpatients with type 2 diabetes of Chinese, Malay and Asian Indian ancestry recruited from the diabetes centre of a regional hospital in Singapore between 2004 and 2015 to study the development and progression of diabetic nephropathy and of major cardiovascular disease."; 2080; "DN", "Singapore Diabetic Nephropathy", "Singapore Study of Diabetic Nephropathy"; ; rdfs:label "Diabetic Nephropathy Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3594 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3596 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3594; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6542096/fullTextXML"; rdfs:comment "DN cohort recruited 2080 outpatient participants with T2D from the diabetes centre (Chinese N = 1309, Malay = 411, Asian Indian = 360) in a regional hospital between March 2004 and December 2015 with the primary aim to study the development and progression of DN and the secondary aim to study the major cardiovascular diseases (CVD) in T2D patients." . _:f322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3596; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6542096/fullTextXML"; rdfs:comment "DN cohort recruited 2080 outpatient participants with T2D from the diabetes centre (Chinese N = 1309, Malay = 411, Asian Indian = 360) in a regional hospital between March 2004 and December 2015 with the primary aim to study the development and progression of DN and the secondary aim to study the major cardiovascular diseases (CVD) in T2D patients." . _:f332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5865208/fullTextXML"; rdfs:comment "Participants for this study were recruited in the diabetes centres in Singapore as described previously in our Diabetic Nephropathy (DN) cohort9." . _:f342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90482719"; "Metabolomics profiling in multi-ancestral individuals with type 2 diabetes in Singapore identified metabolites associated with renal function decline."; "PMID:39621102", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=39621102&retmode=xml"; rdfs:comment "We thank all of the participants, study team and investigators of the Diabetic Cohort (DC), the Diabetic Nephropathy (DN) cohort and the Singapore Study of Macro-angiopathy and Micro-vascular Reactivity in Type 2 Diabetes (SMART2D) for their contributions to research" . _:f352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of outpatients with type 2 diabetes of Chinese, Malay and Asian Indian ancestry recruited from the diabetes centre of a regional hospital in Singapore between 2004 and 2015 to study the development and progression of diabetic nephropathy and of major cardiovascular disease."; "PMID:31146758"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2080; "outpatients with type 2 diabetes recruited 2004-2015"; "PMID:31146758"; rdfs:comment "DN cohort recruited 2080 outpatient participants with T2D from the diabetes centre (Chinese N = 1309, Malay = 411, Asian Indian = 360) in a regional hospital between March 2004 and December 2015 with the primary aim to study the development and progression of DN and the secondary aim to study the major cardiovascular diseases (CVD) in T2D patients." . _:f372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3603; , , ; "GCST90482719"; "A prospective cohort of adults with type 2 diabetes of Chinese, Malay, Indian and other ancestry recruited in 2011–2014 from a public hospital and primary care polyclinics in northern Singapore and followed in three-yearly waves to study risk factors for vascular function and diabetes-related complications such as kidney disease, retinopathy and cognitive dysfunction."; 2258; "SMART2D", "Singapore Study of Macro-angiopathy and Micro-vascular Reactivity in Type 2 Diabetes"; ; rdfs:label "Singapore Study of Macro-Angiopathy and Micro-Vascular Reactivity in Type 2 Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3603 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3603; "type 2 diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38059349+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 2258 patients with type 2 diabetes mellitus (T2DM) were recruited at baseline." . _:f392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10704954/fullTextXML"; rdfs:comment "It is a prospective cohort study that recruited T2DM patients from a public hospital and primary care polyclinics in the northern region of Singapore." . _:f3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90482719"; "Metabolomics profiling in multi-ancestral individuals with type 2 diabetes in Singapore identified metabolites associated with renal function decline."; "PMID:39621102", "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=39621102&retmode=xml"; rdfs:comment "We thank all of the participants, study team and investigators of the Diabetic Cohort (DC), the Diabetic Nephropathy (DN) cohort and the Singapore Study of Macro-angiopathy and Micro-vascular Reactivity in Type 2 Diabetes (SMART2D) for their contributions to research" . _:f3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of adults with type 2 diabetes of Chinese, Malay, Indian and other ancestry recruited in 2011–2014 from a public hospital and primary care polyclinics in northern Singapore and followed in three-yearly waves to study risk factors for vascular function and diabetes-related complications such as kidney disease, retinopathy and cognitive dysfunction."; "PMID:38059349"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2258; "patients with type 2 diabetes recruited at baseline (2011-2014)"; "PMID:38059349"; rdfs:comment "A total of 2258 patients with type 2 diabetes mellitus (T2DM) were recruited at baseline." . _:f3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMART2D"; . a owl:NamedIndividual, ; , , , , , ; , ; , , , , , , , , ; "GCST90570521"; "A cohort of postmenopausal women aged 50–79 enrolled from 1993 at 40 clinical centres across the United States into a clinical trial of dietary modification, hormone therapy and calcium and vitamin D supplementation or into a parallel observational study, followed to study the prevention of cancer, cardiovascular disease and osteoporotic fractures."; 161808; "WHI", "WHI (Women's Health Initiative)", "Women Health Initiative", "Womens Health Initiative", "Women’s Health Initiative"; , ; rdfs:label "Women's Health Initiative"@en; rdfs:seeAlso . _:f3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31339542+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A nationwide prospective cohort study of 156 624 postmenopausal women enrolled in the Women's Health Initiative at 40 clinical centers in the United States between 1993 and 1998." . _:f3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90570521"; "Trans-ancestry GWAS of hot flashes reveals potent treatment target and overlap with psychiatric disorders."; "PMID:41495267", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12830824/fullTextXML"; rdfs:comment "This GWAS meta-analysis includes GWAS analyses that we conducted (in NHS, NHSII, QIMR, and UK Biobank) and summary statistics from the published GWAS by Crandall et al. (for WHI)" . _:f402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of postmenopausal women aged 50–79 enrolled from 1993 at 40 clinical centres across the United States into a clinical trial of dietary modification, hormone therapy and calcium and vitamin D supplementation or into a parallel observational study, followed to study the prevention of cancer, cardiovascular disease and osteoporotic fractures."; "PMID:31339542", "PMID:9492970"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 161808; "postmenopausal women enrolled in the clinical trials and observational study, 1993-1998"; "https://www.whi.org/about-whi"; rdfs:comment "161,808 postmenopausal women enrolled in the WHI." . _:f422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI"; . _:f432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI (Women's Health Initiative)"; . a owl:NamedIndividual, ; , ; ; "GCST90428122", "PXD006367"; "A population-based cohort of adults aged 20–79 sampled from Western Pomerania, a rural region of north-eastern Germany, and recruited in 2008–2012 as the second, independent cohort of the Study of Health in Pomerania, examined at baseline and followed up to study health, disease and their risk factors."; 4420; "SHIP-TREND", "SHIP-TREND-0", "SHIP-Trend", "SHIPNATREND", "Study of Health in Pomerania Trend"; , ; rdfs:label "Study of Health in Pomerania-TREND"@en . _:f442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39085387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cohorts are sampled from Western Pomerania, a rural region of north-eastern Germany." . _:f452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428122"; "Toxin exposure and HLA alleles determine serum antibody binding to toxic shock syndrome toxin 1 (TSST-1) of Staphylococcus aureus."; "PMID:37731490", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37731490+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify determinants of the anti-TSST-1 antibody response, we examined 976 participants of the German population-based epidemiological Study of Health in Pomerania (SHIP-TREND-0)." . _:f462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD006367"; "Cross-Sectional Association of Salivary Proteins with Age, Sex, Body Mass Index, Smoking, and Education."; "PMID:28481548", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD006367"; rdfs:comment "Subjects were randomly selected from the population-based Study of Health in Pomerania (SHIP-Trend)." . _:f472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adults aged 20–79 sampled from Western Pomerania, a rural region of north-eastern Germany, and recruited in 2008–2012 as the second, independent cohort of the Study of Health in Pomerania, examined at baseline and followed up to study health, disease and their risk factors."; "PMID:39085387"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4420; "individuals examined at baseline (SHIP-TREND-0, 2008-2012)"; "PMID:39085387"; rdfs:comment "In total, 8,727 individuals underwent baseline investigations in SHIP-START (n = 4308) and SHIP-TREND (n = 4420)." . _:f492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIP-TREND"; . _:f4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIP-TREND-0"; . _:f4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIP-Trend"; . _:f4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIPNATREND"; . a owl:NamedIndividual, ; , , , ; , , , , ; , , ; "GCST90255392", "PGS000755"; "A consortium of six Korean cohorts, population-based and gene–environment model studies initiated from 2001 with about 245,000 participants, investigating the genetic and environmental determinants of health, disease and ageing in the Korean population."; 245000; "KBA", "KOGES", "KoGES", "KoGES Consortium", "Korea Biobank Array", "Korea Genome Epidemiology Study", "Korean Biobank Array", "Korean Genome Epidemiology Study", "Korean Genome and Epidemiologic Study", "Korean Genome and Epidemiology Cohort", "Korean Genome and Epidemiology Study (KoGES)", "Korean Genomic and Epidemiology Study", "National Institute of Health launched the Korea Biobank Array project"; , , ; rdfs:label "Korean Genome and Epidemiology Study"@en; rdfs:seeAlso . _:f4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837648/fullTextXML"; rdfs:comment "The population-based cohorts in the KoGES, including the KoGES_Ansan and Ansung study, the KoGES_health examinee (HEXA) study and the KoGES_cardiovascular disease association study (CAVAS), consist of community-dwellers and participants recruited from the national health examinee registry, men and women" . _:f4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837648/fullTextXML"; rdfs:comment "The population-based cohorts in the KoGES, including the KoGES_Ansan and Ansung study, the KoGES_health examinee (HEXA) study and the KoGES_cardiovascular disease association study (CAVAS), consist of community-dwellers and participants recruited from the national health examinee registry, men and women" . _:f4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837648/fullTextXML"; rdfs:comment "The population-based cohorts in the KoGES, including the KoGES_Ansan and Ansung study, the KoGES_health examinee (HEXA) study and the KoGES_cardiovascular disease association study (CAVAS), consist of community-dwellers and participants recruited from the national health examinee registry, men and women" . _:f502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4430676/fullTextXML"; rdfs:comment "For further replication of a novel locus, 8,053 subjects taking part in the Health2 study of KoGES and 23,032 Japanese subjects from the BioBank Japan project were selected for analyses." . _:f512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837648/fullTextXML"; rdfs:comment "Figure 2. Geographical location of the survey sites in the Korean genome and epidemiology study. In Korea (A); Japan (B); China (C)." . _:f522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255392"; "Genome-wide study on 72,298 individuals in Korean biobank data for 76 traits."; "PMID:36777999", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36777999+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted GWAS for 76 phenotypes in Korean biobank data, namely the Korean Genome and Epidemiology Study (KoGES) (n = 72,298)." . _:f532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000755"; "Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals."; "PMID:32514006" . _:f542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of six Korean cohorts, population-based and gene–environment model studies initiated from 2001 with about 245,000 participants, investigating the genetic and environmental determinants of health, disease and ageing in the Korean population."; "PMID:42753719"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 245000; "participants enrolled across the six KoGES cohorts since 2001 (a round figure), 2026"; "PMID:42753719"; rdfs:comment "The Korean Genome and Epidemiology Study (KoGES) has undergone a strategic transformation towards ageing research with its 245 000 participants, now in their sixties and seventies, providing an invaluable long-term resource for studying healthy ageing and longevity." . _:f562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KBA"; . _:f572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KOGES"; . _:f582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KoGES"; . _:f592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Korean Genome and Epidemiology Study (KoGES)"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3638; , ; , ; "GCST90840420"; "A population-based prospective cohort of 6,673 men and women aged 45–65 from the greater area of Leiden, the Netherlands, oversampling people with overweight or obesity, recruited in 2008–2012 for extensive phenotyping to investigate the pathways that lead to obesity-related diseases."; 6673; "NEO", "Netherlands Epidemiology of Obesity"; ; rdfs:label "Netherlands Epidemiology of Obesity Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3638; "obesity"; "https://link.springer.com/article/10.1007/s10654-013-9801-3"; rdfs:comment "The Netherlands Epidemiology of Obesity (NEO) study is designed to investigate the pathways that lead to obesity-related diseases and conditions in a population-based prospective cohort study of individuals aged 45–65 years, with an oversampling of individuals with overweight or obesity." . _:f5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13352909/fullTextXML"; rdfs:comment "Briefly, men and women aged between 45 and 65 years with a self-reported body mass index (BMI) of 27 kg/m2 or higher living in the greater area of Leiden (in the west of the Netherlands) were eligible to participate in NEO." . _:f5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90840420"; "Genome-wide association studies of missing metabolite measures from two population-based studies."; "PMID:42426908", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42426908+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We perform a logistic GWAS of metabolite missingness from an untargeted mass spectrometry-based platform in the Netherlands Epidemiology of Obesity Study (N = 594) and the Rhineland Study (N = 4,165)." . _:f5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of 6,673 men and women aged 45–65 from the greater area of Leiden, the Netherlands, oversampling people with overweight or obesity, recruited in 2008–2012 for extensive phenotyping to investigate the pathways that lead to obesity-related diseases."; "PMID:23576214", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11130664/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6673; "individuals aged 45-65 included 2008-2012"; "PMID:23576214"; rdfs:comment "In total, 6,673 participants have been included, of whom 5,217 with a BMI of 27 kg/m2 or higher." . _:f5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3645; , ; ; "GCST90841377"; "A longitudinal observational cohort of middle-aged adults enriched for persons with a parental history of probable Alzheimer disease dementia, enrolled since 2001 at the University of Wisconsin–Madison, United States, and followed with serial cognitive assessments, medical and lifestyle histories, laboratory tests, genetics and linked imaging and cerebrospinal fluid studies to study the early course of Alzheimer disease."; 1561; "WRAP"; ; rdfs:label "Wisconsin Registry for Alzheimer's Prevention"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3645 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3645; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29322089+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Wisconsin Registry for Alzheimer's Prevention is a longitudinal observational cohort study enriched with persons with a parental history (PH) of probable Alzheimer's disease (AD) dementia." . _:f612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5755749/fullTextXML"; rdfs:comment "Wisconsin Alzheimer's Institute, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA" . _:f622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841377"; "Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease."; "PMID:37101235", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134547/fullTextXML"; rdfs:comment "These cohorts included Memento [24], Mayo Clinic Study of Aging (MCSA) [25], Wisconsin Registry for Alzheimer's Prevention (WRAP) [26], Berkeley Aging Cohort study (BACS) [27], Korean study [28], and MISSION-AD." . _:f632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational cohort of middle-aged adults enriched for persons with a parental history of probable Alzheimer disease dementia, enrolled since 2001 at the University of Wisconsin–Madison, United States, and followed with serial cognitive assessments, medical and lifestyle histories, laboratory tests, genetics and linked imaging and cerebrospinal fluid studies to study the early course of Alzheimer disease."; "PMID:29322089", "https://wrap.wisc.edu/about/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1561; "people enrolled since late 2001 (as of the 2017 profile)"; "PMID:29322089"; rdfs:comment "Since late 2001, Wisconsin Registry for Alzheimer's Prevention has enrolled 1561 people at a mean baseline age of 54 years." . _:f652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WRAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3652, _:genid-371333f489424440b12a13b9d98ced822608-genid3654; , ; ; "GCST90317902"; "A longitudinal cohort, the Clinical Core study of the Wisconsin Alzheimer's Disease Research Center, a National Institute on Aging-funded centre established in 2009 at the University of Wisconsin–Madison, United States, in which adults aged 45 and over, recruited into subgroups with mild late-onset Alzheimer disease, mild cognitive impairment, healthy older controls, and middle-aged adults with a positive, negative or indeterminate parental history of Alzheimer disease, attend annual or every-other-year visits with a study partner for memory and thinking evaluations, blood draws and biomarker visits with MRI, lumbar puncture and PET, to study memory, ageing and Alzheimer disease."; 1151; "WADRC", "Wisconsin ADRC", "Wisconsin ADRC Clinical Core"; ; rdfs:label "Wisconsin Alzheimer's Disease Research Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3652 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3654 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3652; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7803963/fullTextXML"; rdfs:comment "The WADRC, previously described92, is a longitudinal cohort study of memory, aging, and AD in middle and older-aged adults who were recruited into one of six subgroups: (1) mild late-onset AD; (2) mild cognitive impairment (MCI); (3) age-matched healthy older controls (age > 65); (4) middle-aged adults with a positive parental history of AD; (5) middle-aged adults with a negative parental history of AD; and (6) middle-aged adults with indeterminate parental history of AD." . _:f672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3654; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7803963/fullTextXML"; rdfs:comment "The WADRC, previously described92, is a longitudinal cohort study of memory, aging, and AD in middle and older-aged adults who were recruited into one of six subgroups: (1) mild late-onset AD; (2) mild cognitive impairment (MCI); (3) age-matched healthy older controls (age > 65); (4) middle-aged adults with a positive parental history of AD; (5) middle-aged adults with a negative parental history of AD; and (6) middle-aged adults with indeterminate parental history of AD." . _:f682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7803963/fullTextXML"; rdfs:comment "Wisconsin Alzheimer’s Disease Research Center, University of Wisconsin-Madison, 600 Highland Avenue, J5/1 Mezzanine, Madison, WI 53792 USA" . _:f692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90317902"; "Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits."; "PMID:39528826", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-01973-7/MediaObjects/41588_2024_1973_MOESM1_ESM.pdf"; rdfs:comment "The Panyard et al CSF MGWAS study6 included 291 participants together from WADRC and WRAP cohorts." . _:f6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort, the Clinical Core study of the Wisconsin Alzheimer's Disease Research Center, a National Institute on Aging-funded centre established in 2009 at the University of Wisconsin–Madison, United States, in which adults aged 45 and over, recruited into subgroups with mild late-onset Alzheimer disease, mild cognitive impairment, healthy older controls, and middle-aged adults with a positive, negative or indeterminate parental history of Alzheimer disease, attend annual or every-other-year visits with a study partner for memory and thinking evaluations, blood draws and biomarker visits with MRI, lumbar puncture and PET, to study memory, ageing and Alzheimer disease."; "PMID:33437055", "https://adrc.wisc.edu/clinical-core", "https://adrc.wisc.edu/history-and-mission", "https://adrc.wisc.edu/structure-and-cores"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1151; "Clinical Core participants, April 2009 to March 2026"; "https://adrc.wisc.edu/sites/default/files/styles/max_650x650/public/2026-06/Wisconsin%20ADRC%20By%20the%20Numbers%20%281%29.jpg?itok=OHMophYE" . _:f6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WADRC"; . _:f6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wisconsin ADRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3662, _:genid-371333f489424440b12a13b9d98ced822608-genid3664; , ; "GCST90837544"; "A cohort of 1,795 adults aged 18–83 from the Kiel region of northern Germany, enrolled in 2011–2014 at random via residents' registration offices and via the Obesity Outpatient Centre of the University Medical Center Schleswig-Holstein, for population-based research on metabolic inflammation with multi-omics, nutrition and follow-up every five years."; 1811; "FOCUS", "FoCus", "Food Chain Plus Cohort"; ; rdfs:label "Food Chain Plus"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3662 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3664 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3662; "type 2 diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36245062+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Food Chain Plus (FoCus) cohort was launched in 2011 for population-based research related to metabolic inflammation." . _:f6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3664; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36245062+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Food Chain Plus (FoCus) cohort was launched in 2011 for population-based research related to metabolic inflammation." . _:f702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36245062+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort was set-up to represent a Northern German population of the Kiel region." . _:f712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837544"; "Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction."; "PMID:41419686", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/fullTextXML"; rdfs:comment "The control groups were drawn from the following biobanks, each approved by their respective local ethics committees: the Heinz Nixdorf Recall Study (University Hospital Essen), the PROCAM-2 Study (University of Münster), as well as the PopGen Biobank and the FOCUS Study (University of Schleswig-Holstein)." . _:f722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 1,795 adults aged 18–83 from the Kiel region of northern Germany, enrolled in 2011–2014 at random via residents' registration offices and via the Obesity Outpatient Centre of the University Medical Center Schleswig-Holstein, for population-based research on metabolic inflammation with multi-omics, nutrition and follow-up every five years."; "PMID:36245062"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1811; "adults recruited at baseline, 2011-2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9630232/fullTextXML"; rdfs:comment "During the first recruitment phase referred to as baseline in the following, data were collected between 2011 and 2014 from 1811 adults (18–83 years)." . _:f742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOCUS"; . _:f752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FoCus"; . a owl:NamedIndividual, ; , ; , ; ; "GCST90094886"; "A research programme of the University of Maryland studying adults of the Old Order Amish founder population of Lancaster County, Pennsylvania, of whom over 7,000 have taken part in one or more of its studies of the genetics of complex diseases."; 7000; "ACDRP", "AMISH", "Amish", "Amish Research Program", "Amish Study", "Genetics of Cardiometabolic Health in the Amish Study", "OOA", "Old Order Amish", "The older order AMISH population studies"; ; rdfs:label "Amish Complex Disease Research Program"@en . _:f762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5015947/fullTextXML"; rdfs:comment "To date, we have screened ∼6500 Amish adults for a variety of risk factors related to cardiovascular disease (Mitchell et al. 2008), diabetes (Hsueh et al. 2000), and osteoporosis (Streeten et al. 2006) as part of the Amish Complex Disease Research Program (ACDRP)." . _:f772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5015947/fullTextXML"; rdfs:comment "To date, we have screened ∼6500 Amish adults for a variety of risk factors related to cardiovascular disease (Mitchell et al. 2008), diabetes (Hsueh et al. 2000), and osteoporosis (Streeten et al. 2006) as part of the Amish Complex Disease Research Program (ACDRP)." . _:f782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989972/fullTextXML"; rdfs:comment "The Old Order Amish (OOA) population of Lancaster County, PA immigrated to the Colonies from Central Europe in the early 1700’s." . _:f792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094886"; "An Amish founder population reveals rare-population genetic determinants of the human lipidome."; "PMID:35393526", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989972/fullTextXML"; rdfs:comment "To date, over 7000 Amish adults have participated in one or more of our studies as part of the Amish Complex Disease Research Program72." . _:f7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research programme of the University of Maryland studying adults of the Old Order Amish founder population of Lancaster County, Pennsylvania, of whom over 7,000 have taken part in one or more of its studies of the genetics of complex diseases."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989972/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7000; "Amish adults who have taken part in one or more of the programme's studies (a lower bound, 'over 7000'), 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989972/fullTextXML"; rdfs:comment "To date, over 7000 Amish adults have participated in one or more of our studies as part of the Amish Complex Disease Research Program72." . _:f7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACDRP"; . _:f7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMISH"; . _:f7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Amish"; . _:f7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OOA"; . a owl:NamedIndividual, ; ; , ; , , , ; "GCST90225535"; "A biobank of Vanderbilt University Medical Center in Nashville, Tennessee, United States, which since February 2007 has banked DNA extracted from blood left over from routine clinical testing of its patients, originally under an opt-out model and now from patients who sign the BioVU consent form, with more than 300,000 samples by January 2023, each linked to a de-identified copy of the patient's electronic health record (the Synthetic Derivative), as a resource for genotype–phenotype studies and personalised medicine."; 300000; "BIOVU", "BioVU Vanderbilt", "BioVu", "Biobank of Vanderbilt University Medical Center", "NashBio", "Nashville Biosciences", "Vanderbilt", "Vanderbilt Biobank", "Vanderbilt DNA Databank", "Vanderbilt University Biobank"; , ; rdfs:label "BioVU"@en; rdfs:seeAlso . _:f802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9512962/fullTextXML"; rdfs:comment "The biobank at Vanderbilt (BioVU) is one of the largest practice-based biobanks in the U.S." . _:f812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90225535"; "Genome-wide association analyses of common infections in a large practice-based biobank."; "PMID:36167494", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9512962/fullTextXML"; rdfs:comment "The biobank at Vanderbilt (BioVU) is one of the largest practice-based biobanks in the U.S." . _:f822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of Vanderbilt University Medical Center in Nashville, Tennessee, United States, which since February 2007 has banked DNA extracted from blood left over from routine clinical testing of its patients, originally under an opt-out model and now from patients who sign the BioVU consent form, with more than 300,000 samples by January 2023, each linked to a de-identified copy of the patient's electronic health record (the Synthetic Derivative), as a resource for genotype–phenotype studies and personalised medicine."; "PMID:18500243", "https://victr.vumc.org/biovu-description/", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7807864/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 300000; "DNA samples banked (a lower bound, 'more than 300,000'), one per patient (2023)"; "https://victr.vumc.org/biovu-description/"; rdfs:comment "BioVU now accrues 500-1000 samples per week, totaling more than 300,000 DNA samples as of January 2023." . _:f842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOVU"; . _:f852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioVU Vanderbilt"; . _:f862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioVu"; . _:f872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NashBio"; . _:f882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vanderbilt"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3691, _:genid-371333f489424440b12a13b9d98ced822608-genid3693; , ; ; "GCST90668445"; "A tri-ethnic longitudinal cohort of people of European, South Asian and African Caribbean ethnicity living in West and North London, United Kingdom, set up in 1988 to examine ethnic differences in chronic disease."; 4857; "SABRE", "Southall And Brent REvisited", "Southall and Brent Revisited Study"; ; rdfs:label "Southall and Brent Revisited"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3691 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3693 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3691; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10874717/fullTextXML"; rdfs:comment "Southall and Brent REvisited: cohort profile of SABRE, a UK population-based comparison of cardiovascular disease and diabetes in people of European, Indian Asian and African Caribbean origins." . _:f8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3693; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10874717/fullTextXML"; rdfs:comment "Southall and Brent REvisited: cohort profile of SABRE, a UK population-based comparison of cardiovascular disease and diabetes in people of European, Indian Asian and African Caribbean origins." . _:f8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10874717/fullTextXML"; rdfs:comment "It recruited predominantly European (EA), South Asian (SA) and African Caribbean (AC) participants living in West and North London; details have been previously described [20]." . _:f8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90668445"; "A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins."; "PMID:40593539", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/fullTextXML"; rdfs:comment "We conducted a multicenter study using data from seven studies – TwinsUK (N = 3918), EPIC-Potsdam (N = 2192), PainOmics (N = 1873), SOCCS (N = 1742), SABRE (N = 544), QMDiab (N = 325), and CEDAR (N = 170) with a total sample size N = 10,764." . _:f8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A tri-ethnic longitudinal cohort of people of European, South Asian and African Caribbean ethnicity living in West and North London, United Kingdom, set up in 1988 to examine ethnic differences in chronic disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10874717/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4857; "people of European, South Asian and African Caribbean origin aged 40-69 at baseline (1988-91), 1991"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-60431-y/MediaObjects/41467_2025_60431_MOESM1_ESM.pdf"; rdfs:comment "SABRE is a population-based cohort initiated in 4,857 people of European, South Asian and African Caribbean origin aged 40 to 69 living in West London, UK9 ." . _:f8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SABRE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3700, _:genid-371333f489424440b12a13b9d98ced822608-genid3702; , ; "GCST90453794"; "A cohort of the EU Horizon 2020 GALAXY (Gut-and-liver axis in alcoholic liver fibrosis) consortium, recruited between 2013 and 2018 by Odense University Hospital in the Region of Southern Denmark, of about 460 consecutively recruited patients with a history of harmful drinking (more than 36 g of alcohol a day for men and 24 g for women for at least a year) and early, asymptomatic alcohol-related liver disease (GALA-ALD), most with a liver biopsy, and some 140 to 150 healthy participants matched to them by age and sex (GALA-HP), to study the gut–liver axis and non-invasive markers of alcohol-related liver fibrosis."; 462; 148; "GALAXY", "GALAXY cohort"; ; rdfs:label "Gut-and-Liver Axis in Alcoholic Liver Fibrosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3700 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3702 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3700; "harmful drinking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9205783/fullTextXML"; rdfs:comment "The GALA–ALD cohort is a diagnostic-test cohort of consecutively recruited patients with a history of harmful drinking." . _:f912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3702; "alcohol-related liver disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906355/fullTextXML"; rdfs:comment "558 adults with alcohol-related liver disease aged 19–82 years, matched with healthy controls recruited from the Region of Southern Denmark5." . _:f922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906355/fullTextXML"; rdfs:comment "For replication of the genetic effects on plasma protein levels, we included 1,000 additional children and adolescents from the HOLBAEK Study and 558 adults with alcohol-related liver disease aged 19–82 years, matched with healthy controls recruited from the Region of Southern Denmark5." . _:f932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90453794"; "Plasma proteome variation and its genetic determinants in children and adolescents."; "PMID:39972214", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906355/fullTextXML"; rdfs:comment "GALA–ALD/HP, gut and liver axis–alcohol-related liver disease/healthy participants." . _:f942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of the EU Horizon 2020 GALAXY (Gut-and-liver axis in alcoholic liver fibrosis) consortium, recruited between 2013 and 2018 by Odense University Hospital in the Region of Southern Denmark, of about 460 consecutively recruited patients with a history of harmful drinking (more than 36 g of alcohol a day for men and 24 g for women for at least a year) and early, asymptomatic alcohol-related liver disease (GALA-ALD), most with a liver biopsy, and some 140 to 150 healthy participants matched to them by age and sex (GALA-HP), to study the gut–liver axis and non-invasive markers of alcohol-related liver fibrosis."; "PMID:35654907", "https://cordis.europa.eu/project/id/668031", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13233754/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 462; "patients with alcohol-related liver disease (GALA-ALD) and matched healthy controls (GALA-HC); no total stated (2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13233754/fullTextXML"; rdfs:comment "We investigated BA homeostasis in a cross-sectional ALD cohort (n = 462), alongside matched healthy controls (n = 148), and validated key findings in two independent ALD cohorts (n = 34 and n = 52)." . _:f962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 148; "patients with alcohol-related liver disease (GALA-ALD) and matched healthy controls (GALA-HC); no total stated (2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13233754/fullTextXML"; rdfs:comment "We investigated BA homeostasis in a cross-sectional ALD cohort (n = 462), alongside matched healthy controls (n = 148), and validated key findings in two independent ALD cohorts (n = 34 and n = 52)." . _:f972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GALAXY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3710; , ; , ; "GCST90105059"; "A population-based cohort of 3,596 randomly selected Finnish children and adolescents aged 3–18 years at baseline in 1980, followed into adulthood for over three decades to study how cardiovascular risk factors in childhood relate to preclinical markers of cardiovascular disease in adulthood."; 3596; "YFS", "Young Finns Study"; ; rdfs:label "Cardiovascular Risk in Young Finns Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3710 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3710; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38115890+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The sample comprised 2776 participants (54 % female) from the Cardiovascular Risk in Young Finns Study who had CVD risk factor data measured in childhood in 1980 (aged 3-18 years) and markers of preclinical CVD measured in adulthood." . _:f992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10726240/fullTextXML"; rdfs:comment "The prospective YFS has followed a population-based cohort from childhood to adulthood that were sampled from five cities with university hospitals in Finland (Helsinki, Kuopio, Oulu, Tampere, and Turku) and their rural surrounds." . _:f9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90105059"; "Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study."; "PMID:35385482", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9015153/fullTextXML"; rdfs:comment "GWAS revealed 3 loci (p<5.0E-08), two of which replicated in the population-based Young Finns Study (YFS) cohort (p<1.67E-03): rs10011284, upstream of SPP1 encoding the OPN protein and related to OPN production, and rs4253311, mapping into KLKB1 encoding prekallikrein (PK), which is processed to kallikrein (KAL) implicated through the kinin-kallikrein system (KKS) in blood pressure control, inflammation, blood coagulation, cancer, and cardiovascular disease." . _:f9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 3,596 randomly selected Finnish children and adolescents aged 3–18 years at baseline in 1980, followed into adulthood for over three decades to study how cardiovascular risk factors in childhood relate to preclinical markers of cardiovascular disease in adulthood."; "PMID:38115890"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:f9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3596; "children and adolescents aged 3-18 at baseline, 1980"; "PMID:38115890"; rdfs:comment "The baseline study was conducted in 1980 when 3596 randomly selected children and adolescents aged 3, 6, 9, 12, 15 and 18 years participated." . _:f9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3717; , ; "GCST90668445"; "A population-based case–control study of colorectal cancer in Scotland, recruiting colorectal cancer cases and population controls since 1999, whose genotyped cases are followed for survival, used to study genetic susceptibility to colorectal cancer and its outcomes."; 2057; 2111; "SOCCS", "Scottish Colorectal Cancer Study"; ; rdfs:label "Study of Colorectal Cancer in Scotland"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3717 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:f9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3717; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31271446+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted the analysis in a well-characterized population-based study of 5,675 patients after CRC diagnosis in Scotland." . _:f9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6771941/fullTextXML"; rdfs:comment "from a population‐based case–control study (Study of Colorectal Cancer in Scotland, SOCCS; 1999‐current)" . _:fa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90668445"; "A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins."; "PMID:40593539", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/fullTextXML"; rdfs:comment "SOCCS (colorectal cancer cases, N = 1283), TwinsUK (N = 1179), CEDAR (N = 170);" . _:fa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of colorectal cancer in Scotland, recruiting colorectal cancer cases and population controls since 1999, whose genotyped cases are followed for survival, used to study genetic susceptibility to colorectal cancer and its outcomes."; "PMID:31271446"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2057; "cases and controls of one genotyped SOCCS sample (analysed subset); no total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-60431-y/MediaObjects/41467_2025_60431_MOESM1_ESM.pdf"; rdfs:comment "SOCCS SOCCS study7,8 comprised 2,057 colorectal cancer cases (CRC) (61% male; mean age at diagnosis (65.8 ± 8.4) years) and 2,111 population controls (60% males; mean age 67.9±9.0 years) as ascertained in Scotland." . _:fa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2111; "cases and controls of one genotyped SOCCS sample (analysed subset); no total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-60431-y/MediaObjects/41467_2025_60431_MOESM1_ESM.pdf"; rdfs:comment "SOCCS SOCCS study7,8 comprised 2,057 colorectal cancer cases (CRC) (61% male; mean age at diagnosis (65.8 ± 8.4) years) and 2,111 population controls (60% males; mean age 67.9±9.0 years) as ascertained in Scotland." . _:fa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOCCS"; . a owl:NamedIndividual, ; , , ; , , ; "GCST90246012"; "A population-based prospective cohort of more than 512,000 adults recruited in 2004–2008 from 10 geographically diverse regions of China, with baseline questionnaires and physical measurements, periodic resurveys, genome-wide genotyping of over 100,000 participants and electronic linkage to death, disease and health-insurance records, supporting studies of disease risk factors, genetics and drug targets."; 512726; "CKB", "KSCDC", "Kadoorie Study of Chronic Disease in China"; , ; rdfs:label "China Kadoorie Biobank"@en; rdfs:seeAlso . _:fa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37601966+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The China Kadoorie Biobank (CKB) is a population-based prospective cohort of >512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across China." . _:fa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90246012"; "Genotyping and population characteristics of the China Kadoorie Biobank."; "PMID:37601966", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37601966+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The China Kadoorie Biobank (CKB) is a population-based prospective cohort of >512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across China." . _:fa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of more than 512,000 adults recruited in 2004–2008 from 10 geographically diverse regions of China, with baseline questionnaires and physical measurements, periodic resurveys, genome-wide genotyping of over 100,000 participants and electronic linkage to death, disease and health-insurance records, supporting studies of disease risk factors, genetics and drug targets."; "PMID:37601966"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 512726; "adults aged 30-79 enrolled 2004-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10435379/fullTextXML"; rdfs:comment "Briefly, 512,726 adults aged 30–79 years were enrolled during 2004–2008 from ten urban and rural areas across China." . _:fa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CKB"; . _:faa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KSCDC"; . a owl:NamedIndividual, ; , ; ; "GCST90994634"; "A national research cohort led by the National Institutes of Health that aims to enrol at least one million diverse adults in the United States, most from groups historically under-represented in biomedical research, through more than 340 recruitment sites, collecting health questionnaires, electronic health records, physical measurements, digital health data and biospecimens to advance precision medicine."; 800000; "All of Us", "All of Us / NIH", "AllOfUs", "AllofUs", "AoU", "NIH All of Us Research Program", "Precision Medicine Initiative Cohort Program"; , ; rdfs:label "All of Us Research Program"@en; rdfs:seeAlso . _:fab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31412182+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The All of Us Research Program plans to enroll a diverse group of at least 1 million persons in the United States in order to accelerate biomedical research and improve health." . _:fac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90994634"; "A Whole-Genome Sequence Genome-Wide Association Study in All of Us Identifies a Novel Glaucoma Risk Locus in African Individuals."; "PMID:42620341", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42620341+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ObjectiveTo assess how whole genome sequencing (WGS) and varying phenotype definitions influence genetic discovery for primary open-angle glaucoma (POAG) in a diverse population.DesignAncestry-stratified genome-wide association studies (GWASs) and cross-ancestry meta-analyses of POAG cases and controls using 2 phenotype definitions.ParticipantsCases (age ≥40 years) and controls (age ≥65 years) were identified in the National Institutes of Health All of Us Research Program v8 data release and subdivided into genetically inferred ancestral groups." . _:fad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national research cohort led by the National Institutes of Health that aims to enrol at least one million diverse adults in the United States, most from groups historically under-represented in biomedical research, through more than 340 recruitment sites, collecting health questionnaires, electronic health records, physical measurements, digital health data and biospecimens to advance precision medicine."; "PMID:31412182"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 800000; "participants consented since 2018 (a lower bound, 'over 800,000'), 2026"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13092120/"; rdfs:comment "Since its inception in 2018, the AoU program has consented to over 800,000 participants, with more than 560,000 completing the initial enrollment process, including health questionnaires and biospecimen collection." . _:faf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "All of Us / NIH"; . _:fb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AllOfUs"; . _:fb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AllofUs"; . _:fb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AoU"; . a owl:NamedIndividual, ; , ; , , , , , ; "GCST90101736", "PGS004233"; "An electronic health record-linked biobank founded in 2007 at the Icahn School of Medicine at Mount Sinai that enrols participants non-selectively from the Mount Sinai Health System in New York City, comprising about 60,000 ancestrally diverse participants with genotype and sequence data for genetic and clinical research."; "The acronym MSH also denotes Multicenter Study of Hydroxyurea in Sickle Cell Anemia (COHO:0000987) and Mount Sinai Hospital-Princess Margaret Multicancer Study (COHO:0002267); this term is BioMe Biobank."@en; 60000; "BIOME", "BMBB", "BioME", "BioMe", "BioMe BioBank Program", "Charles R Bronfman Institute for Personalized Medicine - IPM / BioBank Genome Wide Association Study of Cardiovascular, Renal and Metabolic Phenotypes", "IPM", "IPM Biobank", "Institute for Personalized Medicine (IPM) BioMe Biobank Project", "MSH", "MT. SINAI BioMe Biobank Platform", "Mount Sinai", "Mount Sinai BioMe BioBank", "Mount Sinai BioMe Biobank", "Mount Sinai School of Medicine BioBank"; , ; rdfs:label "BioMe Biobank"@en . _:fb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40554605+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We identified 16 groups with shared ancestry, based on genomic segments that are shared through identity by descent (IBD), in New York City using the genomic data of 25,366 residents from the All Of Us Research Program and the Mount Sinai BioMe biobank." . _:fb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101736"; "Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure."; "PMID:35278270", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35278270+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aimed to determine the relationship of both snLVEF genetic risk and phenotype with survival and underdiagnosed heart failure (HF).Methods and resultsA snLVEF genetic risk score (GRS) was applied and cases of snLVEF were identified in 486 754 individuals across two population-based cohorts (BioMe Biobank and UK Biobank)." . _:fb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004233"; "A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood."; "PMID:35729114" . _:fb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An electronic health record-linked biobank founded in 2007 at the Icahn School of Medicine at Mount Sinai that enrols participants non-selectively from the Mount Sinai Health System in New York City, comprising about 60,000 ancestrally diverse participants with genotype and sequence data for genetic and clinical research."; "PMID:36216889"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60000; "participants enrolled (approximate, 'approximately 60,000')"; "PMID:36216889"; rdfs:comment "The Mount Sinai BioMe Biobank, founded in 2007, is an ongoing electronic health record-linked biorepository that enrols participants non-selectively from the Mount Sinai Health System, comprising approximately 60,000 participants." . _:fb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOME"; . _:fb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BMBB"; . _:fba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioME"; . _:fbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioMe"; . _:fbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPM"; . _:fbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH"; . _:fbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mount Sinai"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3751; , ; , , , , , ; "GCST90444478"; "A prospective cohort of young adults aged 18–30 years, balanced by sex and by Black and White race, recruited in 1985–1986 at four field centres in Birmingham, Alabama, Chicago, Illinois, Minneapolis, Minnesota and Oakland, California, and followed with repeated examinations into midlife to study the development of cardiovascular risk factors and disease."; 5115; "CARDIA", "Coronary Artery Risk Development in Young Adults"; ; rdfs:label "Coronary Artery Risk Development in Young Adults Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3751 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:fbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3751; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32692748+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The longitudinal CARDIA study was initiated in 1985 with the recruitment of young adult participants (aged 18-30 years) equally balanced by female and male sex and black and white race at 4 field centers located in Birmingham, AL, Chicago, IL, Minneapolis, MN, and Oakland, CA." . _:fc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32692748+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The longitudinal CARDIA study was initiated in 1985 with the recruitment of young adult participants (aged 18-30 years) equally balanced by female and male sex and black and white race at 4 field centers located in Birmingham, AL, Chicago, IL, Minneapolis, MN, and Oakland, CA." . _:fc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444478"; "Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration."; "PMID:39251807", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/fullTextXML"; rdfs:comment "The Coronary Artery Risk Development in Young Adults Study (CARDIA) is conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with the University of Alabama at Birmingham (HHSN268201800005I & HHSN268201800007I), Northwestern University (HHSN268201800003I), University of Minnesota (HHSN268201800006I), and Kaiser Foundation Research Institute (HHSN268201800004I)." . _:fc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of young adults aged 18–30 years, balanced by sex and by Black and White race, recruited in 1985–1986 at four field centres in Birmingham, Alabama, Chicago, Illinois, Minneapolis, Minnesota and Oakland, California, and followed with repeated examinations into midlife to study the development of cardiovascular risk factors and disease."; "PMID:32692748", "PMID:36853610", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5419579/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5115; "participants aged 18-30 recruited at baseline, 1985-1986"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7373261/unicode"; rdfs:comment "The CARDIA study began in 1985 with recruitment of 5,115 participants aged 18 to 30 years at field centers located in Birmingham, AL, Chicago, IL, Minneapolis, MN, and Oakland, CA." . _:fc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARDIA"; . a owl:NamedIndividual, ; , , ; ; "GCST90557814"; "A prospective population-based cohort of 10,004 men and women of Chinese, Indian or Malay background aged 30–84, recruited from the Singapore general population in 2018–2022 by Nanyang Technological University, with behavioural, phenotypic and multi-omic measurements and health-record linkage for precision-medicine research in Asian populations."; 10004; "HELIOS", "HELIOS Study", "Health for Life in Singapore Study"; ; rdfs:label "Health for Life in Singapore"@en . _:fc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12764833/fullTextXML"; rdfs:comment "Participants were recruited from the Singapore general population11,13,14." . _:fc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90557814"; "The Health for Life in Singapore (HELIOS) Study: delivering precision medicine research for Asian populations."; "PMID:41469377", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41469377+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To address this gap, we have initiated the Health for Life in Singapore (HELIOS) longitudinal cohort study, comprising comprehensive behavioural, phenotypic, and genomic measurements from 10,004 Asian men and women of Chinese, Indian or Malay background." . _:fc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of 10,004 men and women of Chinese, Indian or Malay background aged 30–84, recruited from the Singapore general population in 2018–2022 by Nanyang Technological University, with behavioural, phenotypic and multi-omic measurements and health-record linkage for precision-medicine research in Asian populations."; "PMID:41469377", "https://www.healthforlife.sg/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10004; "Asian men and women aged 30-84 recruited 2018-2022"; "PMID:41469377"; rdfs:comment "We recruited 10,004 Asian men and women aged 30 to 84 years to the HELIOS Study between 2018 and 2022 (www.healthforlife.sg)." . _:fc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3763, _:genid-371333f489424440b12a13b9d98ced822608-genid3765; , ; , , , ; "GCST90091013"; "A family-based longitudinal cohort of index probands with laboratory-confirmed obstructive sleep apnoea, their relatives, and neighbourhood control families recruited from the Cleveland metropolitan area, Ohio, with four examinations between 1990 and 2006, designed to study the familial and genetic basis of sleep-disordered breathing."; "The acronym CFS also denotes Cleveland Family Speech and Reading Study (COHO:0000465); this term is Cleveland Family Study."@en; 2284; "CFS"; ; rdfs:label "Cleveland Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3763 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3765 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:fca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3763; "sleep-disordered breathing"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3498243/fullTextXML"; rdfs:comment "Index probands with a laboratory confirmed diagnosis of OSA, and at least two first-degree relatives available to be studied were recruited along with family members." . _:fcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3765; "obstructive sleep apnea"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3498243/fullTextXML"; rdfs:comment "Index probands with a laboratory confirmed diagnosis of OSA, and at least two first-degree relatives available to be studied were recruited along with family members." . _:fcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3498243/fullTextXML"; rdfs:comment "Overall, a total of 2284 individuals from 361 families were recruited from the Cleveland metropolitan area." . _:fcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091013"; "Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program."; "PMID:34446064", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394596/fullTextXML"; rdfs:comment "The Cleveland Family Study (CFS) was designed to investigate the familial basis of SDB, with four visits occurring from 1990 to 2006 [21]." . _:fce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based longitudinal cohort of index probands with laboratory-confirmed obstructive sleep apnoea, their relatives, and neighbourhood control families recruited from the Cleveland metropolitan area, Ohio, with four examinations between 1990 and 2006, designed to study the familial and genetic basis of sleep-disordered breathing."; "PMID:23155414", "PMID:34446064"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2284; "individuals from 361 families recruited"; "PMID:23155414"; rdfs:comment "Overall, a total of 2284 individuals from 361 families were recruited from the Cleveland metropolitan area." . _:fd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFS"; . a owl:NamedIndividual, ; , , ; , ; , , , , , , ; "GCST90428450", "PGS005350"; "A population sample of Icelanders recruited through the disease-specific and general-population research projects of deCODE genetics in Reykjavik, Iceland, including the deCODE Health Study, whose chip genotypes and whole-genome sequences, combined with the nationwide Icelandic genealogy, are used for genome-wide association studies of diseases and other traits."; 173025; "DECODE", "DeCODE", "IABS", "IAFS", "IECG", "IPPS", "ISSS", "Icelandic", "deCODE", "deCODE Genetics", "deCode"; , ; rdfs:label "deCODE genetics Icelandic cohort"@en . _:fd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5465083/fullTextXML"; rdfs:comment "This study is based on whole-genome sequence data from the whole blood of 15,220 Icelanders participating in various disease projects at deCODE genetics." . _:fd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428450"; "Sequence variant at 4q25 near PITX2 associates with appendicitis."; "PMID:28596592", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5465083/fullTextXML"; rdfs:comment "This study is based on whole-genome sequence data from the whole blood of 15,220 Icelanders participating in various disease projects at deCODE genetics." . _:fd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005350"; "Polygenic risk scores associate with blood pressure traits across the lifespan."; "PMID:38007706" . _:fd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population sample of Icelanders recruited through the disease-specific and general-population research projects of deCODE genetics in Reykjavik, Iceland, including the deCODE Health Study, whose chip genotypes and whole-genome sequences, combined with the nationwide Icelandic genealogy, are used for genome-wide association studies of diseases and other traits."; "PMID:28596592", "PMID:37294764"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 173025; "Icelanders chip-genotyped by deCODE genetics (2023)"; "PMID:37294764"; rdfs:comment "We genotyped 173,025 Icelanders using Illumina SNP chips, and their genotypes were phased using long-range phasing (90)." . _:fd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DECODE"; . _:fd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DeCODE"; . _:fd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IABS"; . _:fd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IAFS"; . _:fda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IECG"; . _:fdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPPS"; . _:fdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISSS"; . _:fdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Icelandic"; . _:fde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deCODE"; . _:fdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deCode"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3787; , , , , ; "GCST90668445"; "A retrospective, multicentre case–control study of adults of Caucasian ancestry with chronic low back pain and controls without chronic pain, run within the European Union FP7-funded PainOMICS project (ClinicalTrials.gov NCT02037789), which enrolled 3,400 participants between September 2014 and February 2016 at clinical centres in Italy, Belgium, the United Kingdom and Croatia (the registered protocol also listed sites in the United States and Australia), collecting clinical data and blood samples for genome-wide association, glycomics and activomics analyses of chronic low back pain."; 3400; "A Retrospective Study to Identify New \"Omics\" Biomarkers of Chronic/Persistent Low Back Pain", "PainOMICS", "PainOmicc Retrospective Study", "PainOmics retrospective study", "PainOmics study", "Painomics"; ; rdfs:label "PainOMICS Retrospective Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3787 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:fe02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3787; "chronic low back pain"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5411039/fullTextXML"; rdfs:comment "We validated SOPs used in the PainOmics retrospective study to find -omics biomarker to stratify patients with chronic low back pain recruited in the second middle of 2014." . _:fe12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244589/fullTextXML"; rdfs:comment "The sample of 3400 participants including the residents of Italy, Belgium, England, and Croatia was composed in the years from 2014 to 2016." . _:fe22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90668445"; "A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins."; "PMID:40593539", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/fullTextXML"; rdfs:comment "We conducted a multicenter study using data from seven studies – TwinsUK (N = 3918), EPIC-Potsdam (N = 2192), PainOmics (N = 1873), SOCCS (N = 1742), SABRE (N = 544), QMDiab (N = 325), and CEDAR (N = 170) with a total sample size N = 10,764." . _:fe32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retrospective, multicentre case–control study of adults of Caucasian ancestry with chronic low back pain and controls without chronic pain, run within the European Union FP7-funded PainOMICS project (ClinicalTrials.gov NCT02037789), which enrolled 3,400 participants between September 2014 and February 2016 at clinical centres in Italy, Belgium, the United Kingdom and Croatia (the registered protocol also listed sites in the United States and Australia), collecting clinical data and blood samples for genome-wide association, glycomics and activomics analyses of chronic low back pain."; "PMID:27798002", "PMID:28459826", "PMID:37293449", "https://clinicaltrials.gov/api/v2/studies/NCT02037789", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fe42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3400; "participants enrolled Sep 2014-Feb 2016 (the source says patients)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/supplementaryFiles" . _:fe52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PainOMICS"; . _:fe62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Painomics"; . a owl:NamedIndividual, ; , ; , ; "GCST90179214"; "A population-based cohort of adults from the Pomak villages of the regional unit of Xanthi, a set of religiously isolated mountainous villages of the Muslim Pomak minority in northern Greece, 1,702 of whom were recruited as volunteers through the local health centre in Echinos between July 2010 and March 2013 within the Hellenic Isolated Cohorts (HELIC) study, with interview-based questionnaires, anthropometric, haematological and biochemical measurements and blood samples for DNA that were genotyped and whole-genome sequenced, to study the genetics of cardiometabolic and other medically relevant complex traits in an isolated population."; 1702; "HELIC-Pomak", "Pomak"; ; rdfs:label "The Pomak cohort"@en . _:fe72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640022/fullTextXML"; rdfs:comment "For MANOLIS, biological samples were collected from the mountainous Mylopomatos villages in Crete, Greece; whereas, Pomak refers to a set of mountainous villages in the North of Greece." . _:fe82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90179214"; "Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing."; "PMID:36349687", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10077504/fullTextXML"; rdfs:comment "Meta-analyzing whole-genome sequencing (WGS) data from two Greek cohorts, MANOLIS (n = 1356; 22.5× WGS) and Pomak (n = 1537; 18.4× WGS), we detect 301 independently associated pQTL variants for 170 proteins, including 12 rare variants (minor allele frequency < 1%)." . _:fe92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adults from the Pomak villages of the regional unit of Xanthi, a set of religiously isolated mountainous villages of the Muslim Pomak minority in northern Greece, 1,702 of whom were recruited as volunteers through the local health centre in Echinos between July 2010 and March 2013 within the Hellenic Isolated Cohorts (HELIC) study, with interview-based questionnaires, anthropometric, haematological and biochemical measurements and blood samples for DNA that were genotyped and whole-genome sequenced, to study the genetics of cardiometabolic and other medically relevant complex traits in an isolated population."; "PMID:25373335", "PMID:31847144", "PMID:34857772"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:fea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1702; "adult volunteers recruited 2010-2013"; "PMID:31847144"; rdfs:comment "We contacted the local Health Centre in Echinos and, with the cooperation of the local doctors and nurses, a total of 1702 volunteers were recruited between July 2010 and March 2013." . _:feb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIC-Pomak"; . a owl:NamedIndividual, ; , ; , ; ; "GCST90095184"; "A multi-ethnic cohort of over 100,000 adult members of the Kaiser Permanente Northern California health plan who consented to the Research Program on Genes, Environment and Health (RPGEH), linking survey data, saliva-derived DNA with genome-wide genotypes and telomere length, and electronic health records for research on the genetic and environmental determinants of common age-related diseases."; "The acronym KP also denotes Kaiser Permanente Research Bank (COHO:0000541); this term is Genetic Epidemiology Research on Adult Health and Aging."@en; 110266; "GERA", "GERA cohort", "Genetic Epidemiology Research in Adult Health and Aging", "Genetic Epidemiology Research on Aging", "KP", "Kaiser Permanente GERA", "Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging cohort", "Kaiser Permanente Northern California Genetic Epidemiology Research in Adult Health and Aging", "Kaiser Resource for Genetic Epidemiology Research on Aging Cohort", "Resource for Genetic Epidemiology on Adult Health and Aging"; ; rdfs:label "Genetic Epidemiology Research on Adult Health and Aging"@en . _:fec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7939422/fullTextXML"; rdfs:comment "Cohort members reside primarily in a 22-county service area in northern and central California that encompasses over 28,000 square miles and includes urban, suburban, rural and agricultural land use (supplementary Figure 1; http://links.lww.com/EE/A39)." . _:fed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7939422/fullTextXML"; rdfs:comment "The GERA cohort is part of the Kaiser Permanente Northern California (KPNC) Research Program on Genes, Environment and Health (RPGEH)." . _:fee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095184"; "Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways."; "PMID:35449187", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35449187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study of AK in non-Hispanic white participants of the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort (n = 63,110, discovery cohort), with validation in the Mass-General Brigham (MGB) Biobank cohort (n = 29,130)." . _:fef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-ethnic cohort of over 100,000 adult members of the Kaiser Permanente Northern California health plan who consented to the Research Program on Genes, Environment and Health (RPGEH), linking survey data, saliva-derived DNA with genome-wide genotypes and telomere length, and electronic health records for research on the genetic and environmental determinants of common age-related diseases."; "PMID:26092718", "PMID:33778338"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ff02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 110266; "RPGEH participants forming the GERA cohort (genotyped), 2011"; "https://europepmc.org/api/getPdf?pmcid=PMC4574249"; rdfs:comment "The cohort included 110,266 subjects to ensure that at least 100,000 individuals were successfully genotyped by the end of the project." . _:ff12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GERA"; . _:ff22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KP"; . a owl:NamedIndividual, ; , ; "GCST90668562"; "A cohort of about 320 healthy adult Europeans visiting the Academic Hospital of the University of Liège, Belgium, as part of a national colon-cancer screening campaign, from whom peripheral blood and intestinal biopsies were collected to generate transcriptomes of circulating immune cell types and gut tissues for expression quantitative trait locus analysis of inflammatory bowel disease risk loci."; "The acronym CEDAR also denotes Center for Education and Drug Abuse Research (COHO:0001618); this term is Correlated Expression and Disease Association Research."@en; 323; "CEDAR", "CEDAR cohort", "Correlated Expression & Disease Association Research"; ; rdfs:label "Correlated Expression and Disease Association Research"@en . _:ff32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6013502/fullTextXML"; rdfs:comment "We collected peripheral blood as well as intestinal biopsies (ileum, transverse colon, rectum) from 323 healthy Europeans visiting the Academic Hospital of the University of Liège as part of a national screening campaign for colon cancer." . _:ff42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90668562"; "A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins."; "PMID:40593539", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/fullTextXML"; rdfs:comment "We conducted a multicenter study using data from seven studies – TwinsUK (N = 3918), EPIC-Potsdam (N = 2192), PainOmics (N = 1873), SOCCS (N = 1742), SABRE (N = 544), QMDiab (N = 325), and CEDAR (N = 170) with a total sample size N = 10,764." . _:ff52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 320 healthy adult Europeans visiting the Academic Hospital of the University of Liège, Belgium, as part of a national colon-cancer screening campaign, from whom peripheral blood and intestinal biopsies were collected to generate transcriptomes of circulating immune cell types and gut tissues for expression quantitative trait locus analysis of inflammatory bowel disease risk loci."; "PMID:29930244"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ff62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 323; "healthy Europeans with blood and intestinal biopsies"; "PMID:29930244"; rdfs:comment "We collected peripheral blood as well as intestinal biopsies (ileum, transverse colon, rectum) from 323 healthy Europeans visiting the Academic Hospital of the University of Liège as part of a national screening campaign for colon cancer." . _:ff72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEDAR"; . a owl:NamedIndividual, ; , ; , , ; "GCST007410"; "A family-based population cohort of 24,084 adults, including 5,501 families, recruited in Scotland between 2006 and 2011 by Generation Scotland, a collaboration of the Universities of Aberdeen, Dundee, Edinburgh and Glasgow and NHS Scotland. It comprises 6,665 probands aged 35–65, selected from lists of collaborating general practices in the Glasgow and Tayside areas (extended to Ayrshire, Arran and Grampian in 2010), and 17,419 of their adult relatives. Participants completed questionnaires, attended a clinic visit or took part by post, gave DNA for genome-wide genotyping and consented to record linkage and recontact, for the study of the genetic, lifestyle and environmental determinants of common diseases such as heart disease, stroke and depression."; 24084; "GS", "GS:SFHS", "Generation Scotland", "Generation Scotland Scottish Family Health Study"; ; rdfs:label "Generation Scotland: Scottish Family Health Study"@en . _:ff82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6361928/fullTextXML"; rdfs:comment "Generation Scotland is a collaboration between the University Medical School and NHS in Aberdeen, Dundee, Edinburgh and Glasgow, Scotland, UK" . _:ff92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST007410"; "Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland."; "PMID:30718454", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30718454+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population-based cohorts (Generation Scotland and UK Biobank)." . _:ffa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based population cohort of 24,084 adults, including 5,501 families, recruited in Scotland between 2006 and 2011 by Generation Scotland, a collaboration of the Universities of Aberdeen, Dundee, Edinburgh and Glasgow and NHS Scotland. It comprises 6,665 probands aged 35–65, selected from lists of collaborating general practices in the Glasgow and Tayside areas (extended to Ayrshire, Arran and Grampian in 2010), and 17,419 of their adult relatives. Participants completed questionnaires, attended a clinic visit or took part by post, gave DNA for genome-wide genotyping and consented to record linkage and recontact, for the study of the genetic, lifestyle and environmental determinants of common diseases such as heart disease, stroke and depression."; "PMID:29040551", "PMID:38908846"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:ffb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 24084; "adult participants recruited 2006-2011"; "PMID:38908846"; rdfs:comment "A total of 24 084 adult participants, including 5501 families, were recruited between 2006 and 2011." . _:ffc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GS"; . _:ffd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GS:SFHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3818; , ; , , , ; "GCST90093093"; "A community-based family study of hypertensive sibships, recruited from 1996 among non-Hispanic Black adults in Jackson, Mississippi, non-Hispanic white adults in Rochester, Minnesota and (initially) Hispanic adults in Starr County, Texas, to identify genes influencing blood pressure and hypertensive target-organ damage."; "The acronym GENOA also denotes Genetics of Opioid Addiction Consortium (COHO:0000466) and Genetics of Opioid Addiction Study (COHO:0000467); this term is Genetic Epidemiology Network of Arteriopathy."@en; "GENOA", "GENOA Study", "Genetic Epidemiology Network of Arteriopathy (GENOA) study"; ; rdfs:label "Genetic Epidemiology Network of Arteriopathy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3818 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:ffe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3818; "essential hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8764761/fullTextXML"; rdfs:comment "In the first phase of GENOA (Phase I: 1996–2001), sibships with at least two adults with clinically diagnosed essential hypertension before age 60 were recruited, and all siblings in the sibship were invited to participate regardless of hypertension status." . _:fff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8764761/fullTextXML"; rdfs:comment "GENOA is a community-based study in Rochester, MN and Jackson, MS that was established to identify genes influencing blood pressure [33]." . _:10002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093093"; "Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium."; "PMID:33418499", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7804602/fullTextXML"; rdfs:comment "Old Order Amish, Atherosclerosis Risk in Communities (ARIC), Framingham Heart Study (FHS), Genetic Epidemiology Network of Arteriopathy (GENOA), Genetic Epidemiology Network of Salt Sensitivity (GenSalt), Genetic Study of Atherosclerosis Risk (GeneSTAR), Hypertension Genetic Epidemiology Network (HyperGEN), Jackson Heart Study (JHS), Multi-Ethnic Study of Atherosclerosis (MESA) and Women's Health Initiative (WHI)." . _:10012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based family study of hypertensive sibships, recruited from 1996 among non-Hispanic Black adults in Jackson, Mississippi, non-Hispanic white adults in Rochester, Minnesota and (initially) Hispanic adults in Starr County, Texas, to identify genes influencing blood pressure and hypertensive target-organ damage."; "PMID:15121494", "PMID:35039093", "PMID:37169753"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENOA"; . a owl:NamedIndividual, ; , ; , ; "GCST90093140"; "A longitudinal research programme of the University of Oulu comprising two general-population birth cohorts from the two northernmost provinces of Finland, Oulu and Lapland, the Northern Finland Birth Cohort 1966 (NFBC1966) and 1986 (NFBC1986), whose members have been followed since the fetal period to study health and well-being."; "NFBC", "Northern Finland Birth Cohort", "Northern Finland Birth Cohorts - Research program for health and well-being", "Northern Finnish Birth Cohort Study"; ; rdfs:label "Northern Finland Birth Cohorts"@en . _:10032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.oulu.fi/en/university/faculties-and-units/faculty-medicine/northern-finland-birth-cohorts-and-arctic-biobank"; rdfs:comment "University of Oulu has collected several extensive population survey data sets, such as the Northern Finland Birth Cohorts NFBC1966 and NFBC1986, and two cohorts from northern Finland aging individuals Oulu1935 and Oulu1945." . _:10042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.oulu.fi/en/university/faculties-and-units/faculty-medicine/northern-finland-birth-cohorts-and-arctic-biobank"; rdfs:comment "University of Oulu has collected several extensive population survey data sets, such as the Northern Finland Birth Cohorts NFBC1966 and NFBC1986, and two cohorts from northern Finland aging individuals Oulu1935 and Oulu1945." . _:10052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12095082/fullTextXML"; rdfs:comment "The Northern Finland Birth Cohort 1986 (NFBC1986) [19] was initiated 20 years after the NFBC1966 in the same two northernmost provinces of Finland." . _:10062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093140"; "Genome-wide association study of periodontal pocketing in Finnish adults."; "PMID:34847907", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34847907+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of this study was to investigate genome-wide associations of periodontal condition measured as deepened periodontal pockets (≥ 4 mm) in Finnish adults.MethodsThis study was based on the data of the national Health 2000 Survey (BRIF8901) in Finland and the Northern Finland Birth Cohort 1966 Study totalling 3,245 individuals." . _:10072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal research programme of the University of Oulu comprising two general-population birth cohorts from the two northernmost provinces of Finland, Oulu and Lapland, the Northern Finland Birth Cohort 1966 (NFBC1966) and 1986 (NFBC1986), whose members have been followed since the fetal period to study health and well-being."; "PMID:39820013", "https://www.oulu.fi/en/university/faculties-and-units/faculty-medicine/northern-finland-birth-cohorts-and-arctic-biobank"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFBC"; . a owl:NamedIndividual, ; , , ; ; "GCST90278615"; "An ongoing prospective population biobank of more than 150,000 predominantly Han Chinese volunteers aged 20-70 recruited across Taiwan, with questionnaire, physical-measurement, biomarker and genome-wide genetic data and linkage to national health insurance records, built as a resource for biomedical and public health research in East Asia."; 151406; "TWB", "Taiwan", "Taiwan-biobank"; , ; rdfs:label "Taiwan Biobank"@en; rdfs:seeAlso . _:10092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36776991+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Taiwan Biobank (TWB) is an ongoing prospective study of >150,000 individuals aged 20-70 in Taiwan." . _:100a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90278615"; "Analysis across Taiwan Biobank, Biobank Japan, and UK Biobank identifies hundreds of novel loci for 36 quantitative traits."; "PMID:38116116", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38116116+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we report findings from 102,900 individuals across 36 human quantitative traits in the Taiwan Biobank (TWB), a major biobank effort that broadens the population diversity of genetic studies in East Asia." . _:100b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective population biobank of more than 150,000 predominantly Han Chinese volunteers aged 20-70 recruited across Taiwan, with questionnaire, physical-measurement, biomarker and genome-wide genetic data and linkage to national health insurance records, built as a resource for biomedical and public health research in East Asia."; "PMID:36776991"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:100c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 151406; "volunteers who had joined the biobank (2021)"; "PMID:36776991"; rdfs:comment "As of August 2021, a total of 151,406 volunteers have joined the biobank, among which 37,508 have completed the first round of follow-up." . _:100d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TWB"; . _:100e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Taiwan"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3836; , ; "GCST90277238"; "A prospective cohort of about 7,300 adults aged 45-66 recruited in southern Finland in 2015-2017 (from the Kymenlaakso population register, occupational health care customers in Helsinki and Turku, and blood donors) to assess the impact of communicating genetic risk information for cardiovascular disease to participants."; 7342; "GeneRISK", "GeneRISK cohort"; ; rdfs:label "GeneRISK study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3836 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:100f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3836; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618167/fullTextXML"; rdfs:comment "We use data from the prospective GeneRISK cohort46 whose principal aim is to assess the impact of communication of genetic risk information of CVD to study participants." . _:10102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618167/fullTextXML"; rdfs:comment "The cohort includes 7292 participants (4642 women, 2624 men), who were recruited from Southern Finland during 2015–2017 at age of 45–66 years." . _:10112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90277238"; "Genome-wide association analysis of plasma lipidome identifies 495 genetic associations."; "PMID:37907536", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618167/fullTextXML"; rdfs:comment "Here we report univariate and multivariate GWAS of 179 lipid species from 13 lipid classes in 7174 Finnish individuals from the GeneRISK cohort, followed by a phenome-wide association study (PheWAS) of the identified lipid-associated genetic loci in 377,277 biobank participants of the FinnGen study and a colocalization analysis with these endpoints." . _:10122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of about 7,300 adults aged 45-66 recruited in southern Finland in 2015-2017 (from the Kymenlaakso population register, occupational health care customers in Helsinki and Turku, and blood donors) to assess the impact of communicating genetic risk information for cardiovascular disease to participants."; "PMID:35130028", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618167/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7342; "individuals collected into the prospective cohort"; "PMID:35130028"; rdfs:comment "We collected a prospective cohort of 7342 individuals (64% women, mean age 56 years) and estimated their 10-year risk for atherosclerotic cardiovascular disease both by a traditional risk score and a composite score combining the effect of a polygenic risk score and clinical risk factors." . _:10142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneRISK"; . a owl:NamedIndividual, ; , ; , , , , ; "GCST90093143"; "A community-based prospective longitudinal cohort of 3,722 socioeconomically diverse African American and white adults aged 30-64, recruited between 2004 and 2009 by household screening from an area probability sample of 13 neighbourhoods of Baltimore, Maryland, in a factorial design by age, sex, race and poverty status, to examine how race and socioeconomic status influence the development of age-related health disparities."; 3722; "HANDLS", "HANDLS Study", "Healthy Aging in Neighborhoods of Diversity across the Life Span Study"; ; rdfs:label "Healthy Aging in Neighborhoods of Diversity across the Life Span"@en . _:10152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20828101+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited 3722 participants from Baltimore, Md." . _:10162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093143"; "Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits."; "PMID:34734193", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8562625/supplementaryFiles"; rdfs:comment "HANDLS (Healthy Aging in Neighborhoods of Diversity across the Life Span): HANDLS is a community-based, longitudinal epidemiologic study examining the influences of race and socioeconomic status (SES) on the development of age-related health disparities among a sample of socioeconomically diverse African Americans and whites." . _:10172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective longitudinal cohort of 3,722 socioeconomically diverse African American and white adults aged 30-64, recruited between 2004 and 2009 by household screening from an area probability sample of 13 neighbourhoods of Baltimore, Maryland, in a factorial design by age, sex, race and poverty status, to examine how race and socioeconomic status influence the development of age-related health disparities."; "PMID:20828101", "PMID:42050538", "https://handls.nih.gov/01Design.htm"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3722; "participants accrued at baseline 2004-2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3040595/"; rdfs:comment "We accrued 3,722 participants (Table 1): 2,200 African Americans (59%) and 1,522 whites (41%), 1,536 (41%) with household incomes below 125% of the poverty level and 2,186 (59%) above the poverty level." . _:10192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HANDLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3848, _:genid-371333f489424440b12a13b9d98ced822608-genid3850; , ; "GCST90095485"; "A prospective cross-sectional cohort of about 1,500 adults with Crohn's disease or ulcerative colitis and non-IBD controls (people undergoing colon cancer screening), recruited between December 2013 and September 2016 during their endoscopy visits to the outpatient and endoscopy units of the Mount Sinai Hospital, with paired intestinal biopsies and blood samples, RNA sequencing, genotype data and clinical, endoscopic and histological assessments for molecular studies of inflammatory bowel disease."; 1500; "MSCCR"; ; rdfs:label "Mount Sinai Crohn's and Colitis Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3848 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3850 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:101a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3848; "Crohn's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9214725/unicode"; rdfs:comment "Patients with UC (n=484) or CD (n=464) and HCs (ages 18+, n=365) were recruited as part of a cross-sectional study, the Mount Sinai Crohn’s and Colitis Registry (MSCCR), between December 2013 and September 2016 from the outpatient and endoscopy units of the Mount Sinai Hospital." . _:101b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3850; "ulcerative colitis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9214725/unicode"; rdfs:comment "Patients with UC (n=484) or CD (n=464) and HCs (ages 18+, n=365) were recruited as part of a cross-sectional study, the Mount Sinai Crohn’s and Colitis Registry (MSCCR), between December 2013 and September 2016 from the outpatient and endoscopy units of the Mount Sinai Hospital." . _:101c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9214725/unicode"; rdfs:comment "Patients with UC (n=484) or CD (n=464) and HCs (ages 18+, n=365) were recruited as part of a cross-sectional study, the Mount Sinai Crohn’s and Colitis Registry (MSCCR), between December 2013 and September 2016 from the outpatient and endoscopy units of the Mount Sinai Hospital." . _:101d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095485"; "Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets."; "PMID:34780722", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9214725/unicode"; rdfs:comment "Patients with UC (n=484) or CD (n=464) and HCs (ages 18+, n=365) were recruited as part of a cross-sectional study, the Mount Sinai Crohn’s and Colitis Registry (MSCCR), between December 2013 and September 2016 from the outpatient and endoscopy units of the Mount Sinai Hospital." . _:101e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cross-sectional cohort of about 1,500 adults with Crohn's disease or ulcerative colitis and non-IBD controls (people undergoing colon cancer screening), recruited between December 2013 and September 2016 during their endoscopy visits to the outpatient and endoscopy units of the Mount Sinai Hospital, with paired intestinal biopsies and blood samples, RNA sequencing, genotype data and clinical, endoscopic and histological assessments for molecular studies of inflammatory bowel disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8263768/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9873918/fullTextXML", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10014487/unicode", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9214725/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:101f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1500; "approximately 1500 IBD patients and controls recruited Dec 2013-Sep 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9873918/fullTextXML"; rdfs:comment "The Mount Sinai Crohn’s and Colitis registry (MSCCR is a prospective cross-sectional cohort consisting of ~1500 IBD patients and controls recruited during their endoscopy visit from December 2013–September 2016." . _:10202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSCCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3857, _:genid-371333f489424440b12a13b9d98ced822608-genid3859; , ; , , , , ; "GCST90128543"; "A multi-site naturalistic longitudinal case-control cohort in the Netherlands of 2,981 adults aged 18-65, 2,329 with a current or remitted depressive and/or anxiety disorder and 652 healthy controls, recruited from 2004 in the general population, primary care and specialised mental health care in the regions of Amsterdam, Leiden and Groningen, extended from 2014 with 367 of their siblings to 3,348 participants and reassessed repeatedly over more than nine years, to study the aetiology, long-term course and consequences of depressive and anxiety disorders by integrating psychological, social, biological and genetic factors."; 2329; 652; 3348; "NESDA"; ; rdfs:label "Netherlands Study of Depression and Anxiety"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3857 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3859 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3857; "depressive disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33773360+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Netherlands Study of Depression and Anxiety (NESDA, www.nesda.nl) is a longitudinal, multi-site, naturalistic, case-control cohort study set up to examine the etiology, course and consequences of depressive and anxiety disorders." . _:10222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3859; "anxiety disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33773360+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Netherlands Study of Depression and Anxiety (NESDA, www.nesda.nl) is a longitudinal, multi-site, naturalistic, case-control cohort study set up to examine the etiology, course and consequences of depressive and anxiety disorders." . _:10232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "The infrastructure for the NESDA study (www.nesda.nl) is funded through the Geestkracht program of the Netherlands Organisation for Health Research and Development (ZonMw, grant No 10-000-1002) and financial contributions by participating universities and mental health care organizations (VU University Medical Center, GGZ inGeest, Leiden University Medical Center, Leiden University, GGZ Rivierduinen, University Medical Center Groningen, University of Groningen, Lentis, GGZ Friesland, GGZ Drenthe, Rob Giel Onderzoekscentrum)." . _:10242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site naturalistic longitudinal case-control cohort in the Netherlands of 2,981 adults aged 18-65, 2,329 with a current or remitted depressive and/or anxiety disorder and 652 healthy controls, recruited from 2004 in the general population, primary care and specialised mental health care in the regions of Amsterdam, Leiden and Groningen, extended from 2014 with 367 of their siblings to 3,348 participants and reassessed repeatedly over more than nine years, to study the aetiology, long-term course and consequences of depressive and anxiety disorders by integrating psychological, social, biological and genetic factors."; "PMID:18763692", "PMID:33773360", "https://www.nesda.nl/researchers/about-nesda/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2329; "participants recruited: 2329 with depressive/anxiety disorder, 367 siblings, 652 healthy controls"; "PMID:33773360"; rdfs:comment "The NESDA sample recruited initially 2329 persons with a remitted or current DSM-IV based depressive (major depressive disorder, dysthymia) and/or anxiety disorder (panic disorder, social phobia, agoraphobia, generalized anxiety disorder), 367 of their siblings and 652 healthy controls, yielding a total of 3348 participants." . _:10262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 652; "participants recruited: 2329 with depressive/anxiety disorder, 367 siblings, 652 healthy controls"; "PMID:33773360"; rdfs:comment "The NESDA sample recruited initially 2329 persons with a remitted or current DSM-IV based depressive (major depressive disorder, dysthymia) and/or anxiety disorder (panic disorder, social phobia, agoraphobia, generalized anxiety disorder), 367 of their siblings and 652 healthy controls, yielding a total of 3348 participants." . _:10272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3348; "participants recruited: 2329 with depressive/anxiety disorder, 367 siblings, 652 healthy controls"; "PMID:33773360"; rdfs:comment "The NESDA sample recruited initially 2329 persons with a remitted or current DSM-IV based depressive (major depressive disorder, dysthymia) and/or anxiety disorder (panic disorder, social phobia, agoraphobia, generalized anxiety disorder), 367 of their siblings and 652 healthy controls, yielding a total of 3348 participants." . _:10282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NESDA"; . a owl:NamedIndividual, ; , ; , , , ; "GCST90105058"; "A prospective cohort of 3,075 community-dwelling Black and white adults aged 70-79, recruited from 1997 from white Medicare beneficiaries and all eligible Black residents in and around Pittsburgh, Pennsylvania and Memphis, Tennessee, and followed for about 17 years to study body composition, functional decline and disease in older age."; 3075; "HABC", "Health ABC", "Health Aging and Body Composition", "Health, Aging, and Body Composition Study", "Health, Aging, and Body Composition study", "Health, aging and body composition study", "HealthABC"; ; rdfs:label "Health, Aging and Body Composition Study"@en . _:10292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40044514+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SettingThe population-based study took place in two US communities in Memphis, Tennessee, and Pittsburgh, Pennsylvania." . _:102a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90105058"; "Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss."; "PMID:35580588", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9247887/fullTextXML"; rdfs:comment "Age, Genes/Environment Susceptibility - Reykjavik (AGES; n = 3,134), the Danish Twin Registry (DTR; n = 1,314), the Estonian Genome Center at the University of Tartu (EGCUT; n = 55,523), FinnGen (n = 212,544), Framingham Heart Study (FHS; n = 2,536), Health Aging and Body Composition (HABC; n = 1,288), Italian Network of Genetic Isolates - Friuli Venezia Giulia (INGI-FVG; n = 339), the Rotterdam Study (RS, cohorts 1–3; n = 6,157), the Salus in Apulia study (SA; n = 1,780; formerly known as Great Age study), Screening Across the Lifespan Twin (SALT; n = 9,565, and SALTY - young; n = 5,133), Screening Twin Adults:" . _:102b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 3,075 community-dwelling Black and white adults aged 70-79, recruited from 1997 from white Medicare beneficiaries and all eligible Black residents in and around Pittsburgh, Pennsylvania and Memphis, Tennessee, and followed for about 17 years to study body composition, functional decline and disease in older age."; "PMID:32396194", "PMID:40044514", "https://healthabc.nia.nih.gov/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:102c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3075; "men and women aged 70-79 at baseline (1998)"; "https://healthabc.nia.nih.gov/"; rdfs:comment "The study cohort included 3,075 men and women, aged 70-79 at baseline; 45 percent of the women and 33 percent of the men are African American." . _:102d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HABC"; . _:102e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health ABC"; . _:102f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HealthABC"; . a owl:NamedIndividual, ; , ; ; "GCST90104583"; "A single-health-system biobank of more than 91,000 adult patients recruited mainly during surgical encounters at Michigan Medicine, the University of Michigan health system, linking genotypes to electronic health records for disease genetics research."; 91695; "MGI", "Michigan", "Michigan cohort"; ; rdfs:label "Michigan Genomics Initiative"@en . _:10302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9932985/fullTextXML"; rdfs:comment "An alternative biobank design is localized recruitment within a single healthcare system.7,8,9 In this article, we describe the Michigan Genomics Initiative (MGI), a single-health-system biobank recruited from adult patients receiving care at Michigan Medicine, the University of Michigan’s health system." . _:10312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104583"; "Genetic variants associated with sepsis."; "PMID:35275946", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8916629/fullTextXML"; rdfs:comment "The Michigan Genomics Initiative (MGI) is a biobank that collects blood samples on adult perioperative patients for later genetic analysis." . _:10322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-health-system biobank of more than 91,000 adult patients recruited mainly during surgical encounters at Michigan Medicine, the University of Michigan health system, linking genotypes to electronic health records for disease genetics research."; "PMID:36819667"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 91695; "Michigan Medicine patients consented to MGI (2022)"; "PMID:36819667"; rdfs:comment "As of April 30, 2022, 91,695 patients receiving care at the Michigan Medicine health system have consented to participate in the MGI." . _:10342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGI"; . _:10352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Michigan"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3880, _:genid-371333f489424440b12a13b9d98ced822608-genid3882; , ; ; "GCST90809085"; "A case-control study of mothers and children born at Kaiser Permanente Northern California from January 2011 to January 2016, oversampling children later diagnosed with autism spectrum disorder or other developmental delay alongside general-population controls, with maternal first- and second-trimester blood samples from the RPGEH pregnancy cohort, to study maternal immune and metabolic markers and child neurodevelopment."; "The acronym IMPaCT also denotes Identification of Men with a genetic predisposition to ProstAte Cancer (COHO:0000097), written IMPACT; this term is Immune and Metabolic Markers during Pregnancy and Child Development Study."@en; 967; 2569; "IMPACT_KPNC", "IMPaCT", "IMPaCT Study", "IMPaCT cohort"; ; rdfs:label "Immune and Metabolic Markers during Pregnancy and Child Development Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3880 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3882 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3880; "autism spectrum disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340790/fullTextXML"; rdfs:comment "Although this cohort was ascertained for children with autism spectrum disorder (ASD) and other neurodevelopmental disorders (DD), we gained novel insight into how maternal and fetal genetics shape levels of immune mediators in pregnancy." . _:10372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3882; "other neurodevelopmental disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340790/fullTextXML"; rdfs:comment "Although this cohort was ascertained for children with autism spectrum disorder (ASD) and other neurodevelopmental disorders (DD), we gained novel insight into how maternal and fetal genetics shape levels of immune mediators in pregnancy." . _:10382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10689278/fullTextXML"; rdfs:comment "The study population for the IMPaCT (Immune and Metabolic Markers during Pregnancy and Child Development) Study was selected from children born at Kaiser Permanente Northern California (KPNC) from January 2011 to January 2016, who survived to age 2 years and whose mothers received health care during the 2 years prior to delivery." . _:10392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340790/fullTextXML"; rdfs:comment "All mothers had previously provided written consent to participate in the Research Program on Genes, Environment, and Health (RPGEH) pregnancy cohort" . _:103a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90809085"; "Genetic survey of biomarkers at early and mid-pregnancy identifies pregnancy-specialized immune regulation."; "PMID:42378311", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340790/fullTextXML"; rdfs:comment "The IMPaCT cohort included 2436 mothers across three child outcome groups (ASD N = 339, DD N = 1193, GP N = 904) with blood sample measurements taken at two timepoints (14–147 days apart) [S7c Fig] per individual over the first and second trimesters (Fig 1a)." . _:103b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of mothers and children born at Kaiser Permanente Northern California from January 2011 to January 2016, oversampling children later diagnosed with autism spectrum disorder or other developmental delay alongside general-population controls, with maternal first- and second-trimester blood samples from the RPGEH pregnancy cohort, to study maternal immune and metabolic markers and child neurodevelopment."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10689278/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340790/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:103c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 967; "children (with their mothers) in the case-control sample: ASD 311, DD 1291, general-population controls 967 (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10689278/fullTextXML"; rdfs:comment "Table 1Characteristics of the IMPaCT Case-Control Study Sample, Kaiser Permanente Northern CaliforniaCharacteristicAll, N = 2569ASD, n = 311DD, n = 1291GP, n = 967" . _:103d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2569; "children (with their mothers) in the case-control sample: ASD 311, DD 1291, general-population controls 967 (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10689278/fullTextXML"; rdfs:comment "Table 1Characteristics of the IMPaCT Case-Control Study Sample, Kaiser Permanente Northern CaliforniaCharacteristicAll, N = 2569ASD, n = 311DD, n = 1291GP, n = 967" . _:103e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPACT_KPNC"; . _:103f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPaCT"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , ; , ; "GCST90029070"; "A consortium of large prospective population-based cohort studies from the United States and Europe, founded with the Age, Gene/Environment Susceptibility-Reykjavik Study, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, the Framingham Heart Study and the Rotterdam Study, formed to facilitate genome-wide association meta-analyses and replication across cohorts with similarly measured phenotypes."; 38000; "CHARGE", "CHARGE Consortium", "Cohort for Heart and Aging Research in Genomic Epidemiology", "Cohorts for Heart and Aging Research in Genome Epidemiology", "Cohorts for Heart and Aging Research in Genome Epidemiology consortium", "Cohorts for Heart and Aging Research in Genomic Epidemiology", "Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium"; ; rdfs:label "Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium"@en . _:10402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Atherosclerosis Risk in Communities Study" . _:10412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Multi-Ethnic Study of Atherosclerosis" . _:10422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Rotterdam Study" . _:10432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20031568+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The design of the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium includes 5 prospective cohort studies from the United States and Europe: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study." . _:10442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Jackson Heart Study" . _:10452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20031568+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The design of the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium includes 5 prospective cohort studies from the United States and Europe: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study." . _:10462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20031568+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The design of the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium includes 5 prospective cohort studies from the United States and Europe: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study." . _:10472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/fullTextXML"; rdfs:comment "11 different cohorts of the CHARGE consortium including: the Rotterdam Study (RS-I and RS-II, N = 4119), the Rhineland Study" . _:10482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Coronary Artery Risk Development in Young Adults" . _:10492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Health, Aging, and Body Composition Study" . _:104a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.chargeconsortium.com/"; rdfs:comment "Family Heart Study" . _:104b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/fullTextXML"; rdfs:comment "11 different cohorts of the CHARGE consortium including: the Rotterdam Study (RS-I and RS-II, N = 4119), the Rhineland Study (N = 4019), the MEMENTO cohort (N = 2195), the Framingham Heart Study (FHS, N = 2048), the BiDirect study (N = 1899)" . _:104c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8993877/fullTextXML"; rdfs:comment "seven cohorts from the Cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium (the Framingham Heart Study (FHS), the Rotterdam Study (RSI and RSII), the MEMENTO Study, the Coronary Artery Risk Development in Young Adults (CARDIA) Study, the Cardiovascular Health Study (CHS), the Vietnam Era Twin Study of Aging (VETSA) Study" . _:104d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5013019/fullTextXML"; rdfs:comment "The discovery phase of this GWAS was conducted on 27 581 subjects from the following 14 participating studies of the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE); the Age, Gene/Environment Susceptibility Study (AGES); the Cardiovascular Health Study (CHS); the Framingham Heart Study (FHS); the Health, Aging, and Body Composition (Health ABC) Study; the Health and Retirement Study (HRS); the InCHIANTI Study; the Lothian Birth Cohort Studies (1921 and 1936); the Osteoporotic Fractures in Men Study (MrOS); Religious Order Study, Memory and Aging Project (MAP/ROS); the Study of Health in Pomerania (SHIP); the Study of Osteoporotic Fractures (SOF); the Tasmanian Study of Cognition and Gait (TasCog); and the Twins UK Study." . _:104e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90029070"; "Genetic analysis of over half a million people characterises C-reactive protein loci."; "PMID:35459240", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35459240+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report the largest genome-wide association study (GWAS) on C-reactive protein (CRP), a marker of systemic inflammation, in UK Biobank participants (N = 427,367, European descent) and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium (total N = 575,531 European descent)." . _:104f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of large prospective population-based cohort studies from the United States and Europe, founded with the Age, Gene/Environment Susceptibility-Reykjavik Study, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, the Framingham Heart Study and the Rotterdam Study, formed to facilitate genome-wide association meta-analyses and replication across cohorts with similarly measured phenotypes."; "PMID:20031568"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 38000; "individuals with genome-wide data across the 5 founding cohorts (approximate), 2009"; "PMID:20031568"; rdfs:comment "With genome-wide data on a total of about 38 000 individuals, these cohort studies have a large number of health-related phenotypes measured in similar ways." . _:10512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARGE"; . a owl:NamedIndividual, ; , ; ; "GCST003664"; "A birth cohort of the 13,345 singletons born in one of the two maternity hospitals in Helsinki, Finland, between 1934 and 1944, followed up in later life to study how early life shapes adult health."; "The acronym HBCS also denotes Texas Bladder Cancer Study (COHO:0000853); this term is Helsinki Birth Cohort Study."@en; 13345; "HBCS"; ; rdfs:label "Helsinki Birth Cohort Study"@en . _:10522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6416302/fullTextXML"; rdfs:comment "Our study sample is a part of the Helsinki Birth Cohort Study (HBCS), comprising all 13345 individuals (52.3% male) born singleton in one of the two maternity hospitals in Helsinki, Finland, between 1934 and 1944." . _:10532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003664"; "Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA."; "PMID:27005778", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4814583/fullTextXML"; rdfs:comment "Angiogram (COROGENE), Genetics of METabolic Syndrome, Helsinki Birth Cohort" . _:10542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of the 13,345 singletons born in one of the two maternity hospitals in Helsinki, Finland, between 1934 and 1944, followed up in later life to study how early life shapes adult health."; "PMID:27699078", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6416302/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13345; "singletons born in two Helsinki maternity hospitals 1934-1944"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6416302/fullTextXML"; rdfs:comment "Our study sample is a part of the Helsinki Birth Cohort Study (HBCS), comprising all 13345 individuals (52.3% male) born singleton in one of the two maternity hospitals in Helsinki, Finland, between 1934 and 1944." . _:10562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3915, _:genid-371333f489424440b12a13b9d98ced822608-genid3917, _:genid-371333f489424440b12a13b9d98ced822608-genid3919; , ; "GCST90255778"; "A population-based prospective cohort from fetal life onwards of 9,778 mothers with delivery dates from April 2002 to January 2006 in Rotterdam, the Netherlands, and their children, designed to identify early environmental and genetic causes of normal and abnormal growth, development and health."; 9778; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GenR"; "GenR", "Generation R", "Generation R Study Group", "Generation_R", "The Generation R Study"; , ; rdfs:label "Generation R Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid3915 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3917 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3919 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3915; "lifestyle related determinants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28070760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Main exposures of interest include environmental, endocrine, genomic (genetic, epigenetic, microbiome), lifestyle related, nutritional and socio-demographic determinants." . _:10582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3917; "nutritional determinants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28070760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Main exposures of interest include environmental, endocrine, genomic (genetic, epigenetic, microbiome), lifestyle related, nutritional and socio-demographic determinants." . _:10592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3919; "environmental determinants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28070760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Main exposures of interest include environmental, endocrine, genomic (genetic, epigenetic, microbiome), lifestyle related, nutritional and socio-demographic determinants." . _:105a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5233749/fullTextXML"; rdfs:comment "The Generation R Study is conducted in Rotterdam, the second largest city in the Netherlands." . _:105b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255778"; "Mapping gene by early life stress interactions on child subcortical brain structures: A genome-wide prospective study."; "PMID:36777645", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36777645+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genome-wide association and genome-wide-by-environment interaction analyses (GWEIS, run separately for prenatal/postnatal ELS) were conducted for eight brain outcomes (i.e., 24 genome-wide analyses) in the Generation R Study (discovery)." . _:105c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort from fetal life onwards of 9,778 mothers with delivery dates from April 2002 to January 2006 in Rotterdam, the Netherlands, and their children, designed to identify early environmental and genetic causes of normal and abnormal growth, development and health."; "PMID:28070760"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:105d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9778; "mothers enrolled (delivery dates Apr 2002-Jan 2006)"; "PMID:28070760"; rdfs:comment "In total, 9778 mothers with a delivery date from April 2002 until January 2006 were enrolled in the study." . _:105e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenR"; . _:105f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Generation_R"; . a owl:NamedIndividual, ; , ; ; "GCST90503338", "MTBLS2633"; "A cohort of about 500 healthy adult volunteers of Western European ancestry recruited at Radboud University Medical Center in Nijmegen, the Netherlands, in 2013–2014 within the Human Functional Genomics Project, to study how genetic, environmental, host and microbiome factors shape individual cytokine and immune responses."; 534; "500 Functional Genomics cohort", "500-Human Functional Genomics cohort", "500FG", "500FG cohort"; , ; rdfs:label "500 Functional Genomics"@en . _:10602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5787854/unicode"; rdfs:comment "The inclusion of the volunteers took place between 8/2013 until 12/2014 in the Radboud University Medical Center, the Netherlands." . _:10612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90503338"; "Sex-biased genetic regulation of inflammatory proteins in the Dutch population."; "PMID:38326779", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10851559/fullTextXML"; rdfs:comment "The 500FG cohort is a population-based cohort of healthy individuals of Western European ancestry consisting of 237 males and 296 females with age range of 18-75 years." . _:10622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS2633"; "Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease."; "PMID:34229738", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS2633"; rdfs:comment "We systematically investigate circulating metabolites in a cohort of 500 healthy subjects (500FG) in whom immune function and activity are deeply measured and whose genetics are profiled." . _:10632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 500 healthy adult volunteers of Western European ancestry recruited at Radboud University Medical Center in Nijmegen, the Netherlands, in 2013–2014 within the Human Functional Genomics Project, to study how genetic, environmental, host and microbiome factors shape individual cytokine and immune responses."; "PMID:27814508", "https://humanfunctionalgenomics.org/projects/500fg/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 534; "healthy volunteers in the cohort"; "PMID:27814508"; rdfs:comment "The 500FG cohort consists of 534 healthy individuals of Caucasian origin and is part of the Human Functional Genomics Project (HFGP)." . _:10652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "500FG"; . a owl:NamedIndividual, ; ; , ; , , ; "GCST90244183"; "A biobank cohort of patients of Geisinger Health System, an integrated health system in central and eastern Pennsylvania, United States, who since 2007 have given opt-in consent to link their samples to electronic health record data for broad research use, with genotype and exome sequence data generated in collaboration with the Regeneron Genetics Center."; "The acronym GHS also denotes Gutenberg Health Study (COHO:0000263); this term is MyCode Community Health Initiative."@en; 90000; "GHS", "GMC", "GeHS", "Geisinger Cohort - MyCode Community Health Initiative", "Geisinger Medical Center", "Geisinger MyCode", "Geisinger MyCode Community Health Initiative", "Geisinger MyCode Health Initiative biobank", "Geisinger's MyCode", "MyCode", "MyCode Health Initiative", "MyCode biobank"; , ; rdfs:label "MyCode Community Health Initiative"@en; rdfs:seeAlso . _:10662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9529959/fullTextXML"; rdfs:comment "The GHS MyCode study is a health system-based cohort of patients from Central and Eastern Pennsylvania (USA) recruited in 2007–201941." . _:10672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244183"; "ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma."; "PMID:36192519", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9529959/fullTextXML"; rdfs:comment "Association with IOP was tested on a total of 101,678 individuals and 27,529 individuals of European ancestry from the United Kingdom Biobank (UKB) and the MyCode Community Health Initiative cohort from Geisinger Health System (GHS), respectively." . _:10682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank cohort of patients of Geisinger Health System, an integrated health system in central and eastern Pennsylvania, United States, who since 2007 have given opt-in consent to link their samples to electronic health record data for broad research use, with genotype and exome sequence data generated in collaboration with the Regeneron Genetics Center."; "PMID:26866580"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 90000; "patients enrolled by end of September 2015 (stated as more than 90,000; lower bound)"; "PMID:26866580"; rdfs:comment "By the end of September, 2015 more than 90,000 Geisinger patients had enrolled, including more than 3,600 pediatric patients enrolled through parental or guardian consent." . _:106a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHS"; . _:106b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GMC"; . _:106c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeHS"; . _:106d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geisinger Cohort - MyCode Community Health Initiative"; . _:106e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MyCode"; . a owl:NamedIndividual, ; , , ; "GCST90094988"; "A cohort of customers of 23andMe, Inc., a direct-to-consumer genetics company, who have been genotyped and have consented to take part in online research, answering web-based questionnaires under an IRB-approved protocol, whose genotype and self-reported data are used for genome-wide association studies."; 7194265; "23ANDME", "23andMe", "23andMe cohort", "23andMe research participants", "23andMe's research cohort", "23andMe, Inc", "23andMe, Inc.", "23andMe, Inc. research participants"; , ; rdfs:label "23andMe research cohort"@en; rdfs:seeAlso . _:106f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094988"; "Genome-wide association study of problematic opioid prescription use in 132,113 23andMe research participants of European ancestry."; "PMID:34728798", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8562028/fullTextXML"; rdfs:comment "To test this hypothesis, we performed a genome-wide association study (GWAS) of problematic opioid use (POU) in 23andMe research participants of European ancestry (N = 132,113; 21% cases)." . _:10702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of customers of 23andMe, Inc., a direct-to-consumer genetics company, who have been genotyped and have consented to take part in online research, answering web-based questionnaires under an IRB-approved protocol, whose genotype and self-reported data are used for genome-wide association studies."; "PMID:34728798"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7194265; "research-consented genotyped 23andMe participants screened in a 2024 carrier study"; "PMID:39669632"; rdfs:comment "Results Demographics Out of 7,194,265 consented participants, 116,517 (1.6%) were heterozygous for pathogenic variants in genes associated with ACOG-AJ conditions (commonly referred to as “carriers” in the context of reproductive risk) ( Table 1 )." . _:10722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "23ANDME"; . _:10732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "23andMe"; . a owl:NamedIndividual, ; , ; "GCST90094671"; "A population-based cohort of 10,000 randomly selected adults, mainly aged 40–79, from the city of Leipzig in eastern Germany, examined in 2011–2014 by the Leipzig Research Centre for Civilization Diseases (LIFE) with deep phenotyping to study the prevalence, early markers, genetic predispositions and lifestyle factors of major civilization diseases."; 10000; "LIFE Adult Study", "LIFE-Adult"; ; rdfs:label "LIFE-Adult-Study"@en . _:10742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26197779+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BackgroundThe LIFE-Adult-Study is a population-based cohort study, which has recently completed the baseline examination of 10,000 randomly selected participants from Leipzig, a major city with 550,000 inhabitants in the east of Germany." . _:10752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094671"; "Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study."; "PMID:34822396", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8624973/fullTextXML"; rdfs:comment "LIFE-Heart (1357 males, 711 females) [23] and LIFE-Adult (863 males, 618 females) [24]." . _:10762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 10,000 randomly selected adults, mainly aged 40–79, from the city of Leipzig in eastern Germany, examined in 2011–2014 by the Leipzig Research Centre for Civilization Diseases (LIFE) with deep phenotyping to study the prevalence, early markers, genetic predispositions and lifestyle factors of major civilization diseases."; "PMID:26197779"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10000; "randomly selected adults examined at baseline, 2011-2014"; "PMID:26197779"; rdfs:comment "The LIFE-Adult-Study is a population-based cohort study, which has recently completed the baseline examination of 10,000 randomly selected participants from Leipzig, a major city with 550,000 inhabitants in the east of Germany." . _:10782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIFE-Adult"; . a owl:NamedIndividual, ; , ; ; "GCST90267412"; "A cohort of 13,403 racially and ethnically diverse volunteer blood donors aged 18 or older, enrolled from December 2013 to October 2015 at four large blood centres across the United States (in Connecticut, Pennsylvania, Wisconsin and California) by the NHLBI Recipient Epidemiology and Donor Evaluation Study-III (REDS-III), who completed a questionnaire and gave blood for blood counts, ferritin and DNA and a sample of their red cells for haemolysis testing at the end of storage, with donors of extreme haemolysis recalled for a second donation, to study the genetic and biological determinants of donor iron metabolism, pica, restless legs syndrome and red cell storage haemolysis, and to link donors to the outcomes of the patients transfused with their red cells."; 13403; "RBC-Omics", "REDS", "REDS RBC Omics", "REDS RBC Omics Index cohort", "REDS-III RBC-Omics", "REDS-III RBC-Omics study", "Red Blood Cell Omics Study"; ; rdfs:label "Red Blood Cell-Omics Study"@en . _:10792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9763692/fullTextXML"; rdfs:comment "As part of this study, genomics approaches were used to characterize 12,353 volunteer donors enrolled at four different blood centers across the United States of America (29, 30)." . _:107a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267412"; "Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors."; "PMID:36395887", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9763692/fullTextXML"; rdfs:comment "The red blood cell (RBC)-Omics study, part of the larger NHLBI-funded Recipient Epidemiology and Donor Evaluation Study (REDS-III), aims to understand the genetic contribution to blood donor RBC characteristics." . _:107b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 13,403 racially and ethnically diverse volunteer blood donors aged 18 or older, enrolled from December 2013 to October 2015 at four large blood centres across the United States (in Connecticut, Pennsylvania, Wisconsin and California) by the NHLBI Recipient Epidemiology and Donor Evaluation Study-III (REDS-III), who completed a questionnaire and gave blood for blood counts, ferritin and DNA and a sample of their red cells for haemolysis testing at the end of storage, with donors of extreme haemolysis recalled for a second donation, to study the genetic and biological determinants of donor iron metabolism, pica, restless legs syndrome and red cell storage haemolysis, and to link donors to the outcomes of the patients transfused with their red cells."; "PMID:30267427", "PMID:36395887"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:107c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13403; "blood donors enrolled December 2013 to October 2015"; "PMID:30267427"; rdfs:comment "A total of 13,403 racially/ethnically diverse (12% African American, 12% Asian, 8% Hispanic, 64% white, and 5% multiracial/other) donors of both sexes were enrolled and ranged from 18 to 90 years of age; 15% were high-intensity donors (nine or more donations in the prior 24 mo without low hemoglobin deferral)." . _:107d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RBC-Omics"; . _:107e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3958, _:genid-371333f489424440b12a13b9d98ced822608-genid3960; , ; ; "GCST003664"; "A prospective cohort of consecutive Finnish patients referred for coronary angiography at Helsinki University Central Hospital in 2006–2008, assembled to study the genetic predisposition to coronary heart disease; its acute coronary syndrome cases, with controls sampled from FINRISK, form a genotyped case-control sample."; 5330; "COROGENE", "Corogene", "Genetic Predisposition of Coronary Heart Disease in Patients Verified with Coronary Angiogram"; ; rdfs:label "Corogene Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3958 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid3960 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:107f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3958; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4929378/fullTextXML"; rdfs:comment "Corogene is a prospective, consecutive cohort study of Finnish patients referred for coronary angiography to the Helsinki University Central Hospital between 2006 and 2008." . _:10802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3960; "acute coronary syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4929378/fullTextXML"; rdfs:comment "Corogene is a prospective, consecutive cohort study of Finnish patients referred for coronary angiography to the Helsinki University Central Hospital between 2006 and 2008." . _:10812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4929378/fullTextXML"; rdfs:comment "Corogene is a prospective, consecutive cohort study of Finnish patients referred for coronary angiography to the Helsinki University Central Hospital between 2006 and 2008." . _:10822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003664"; "Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA."; "PMID:27005778", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4814583/fullTextXML"; rdfs:comment "This same platform was used here to analyse samples in Estonian Genome Center of University of Tartu Cohort (EGCUT), Finnish Twin Cohort, a subsample of FINRISK 1997 (FR97), Genetic Predisposition of Coronary Heart Disease in Patients Verified with Coronary Angiogram (COROGENE), Genetics of METabolic Syndrome, Helsinki Birth Cohort Study (HBCS)" . _:10832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of consecutive Finnish patients referred for coronary angiography at Helsinki University Central Hospital in 2006–2008, assembled to study the genetic predisposition to coronary heart disease; its acute coronary syndrome cases, with controls sampled from FINRISK, form a genotyped case-control sample."; "PMID:20971364", "PMID:27125947"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5330; "consecutive Finnish patients undergoing coronary angiography, June 2006 to March 2008"; "PMID:20971364"; rdfs:comment "For the COROGENE cohort, initially, all consecutive Finnish patients undergoing coronary angiogram between June, 2006, and March, 2008 (n=5330), in the Helsinki University Central Hospital were included and a questionnaire, information about previous medical conditions and cardiovascular risk factors, hospital records for patients' history, laboratory measurements, electrocardiogram, echocardiogram, and medication were obtained." . _:10852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COROGENE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3967; , ; ; ; "GCST003664"; "A case-control sub-cohort of the Finnish Health 2000 survey, collected in 2000–2001, comprising participants with metabolic syndrome and matched controls, genotyped to study the genetics of metabolic syndrome and related traits."; 2212; "GENMETS", "GENMETS subcohort", "GenMets", "GenMets sub cohort for the Health 2000 Study", "Genetics of METabolic Syndrome", "Health2000 GenMets Study"; ; rdfs:label "Health 2000 GenMets Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3967 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3967; "metabolic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4237993/fullTextXML"; rdfs:comment "In the current study, we used the GenMets sample, which includes individuals with metabolic syndrome and matched control subjects drawn from the Health 2000 study." . _:10872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3916240/fullTextXML"; rdfs:comment "GenMets is a subset from the Health 2000 survey collected in 2000–2001 to obtain information on the most important public health problems in Finland [30]." . _:10882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3916240/fullTextXML"; rdfs:comment "GenMets is a subset from the Health 2000 survey collected in 2000–2001 to obtain information on the most important public health problems in Finland [30]." . _:10892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003664"; "Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA."; "PMID:27005778", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4814583/fullTextXML"; rdfs:comment "This same platform was used here to analyse samples in Estonian Genome Center of University of Tartu Cohort (EGCUT), Finnish Twin Cohort, a subsample of FINRISK 1997 (FR97), Genetic Predisposition of Coronary Heart Disease in Patients Verified with Coronary Angiogram (COROGENE), Genetics of METabolic Syndrome, Helsinki Birth Cohort Study (HBCS)" . _:108a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sub-cohort of the Finnish Health 2000 survey, collected in 2000–2001, comprising participants with metabolic syndrome and matched controls, genotyped to study the genetics of metabolic syndrome and related traits."; "PMID:24516404", "PMID:24969107"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:108b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2212; "Health 2000 participants collected as metabolic syndrome cases and matched controls"; "PMID:19554302"; rdfs:comment "The Genmets sample is subset of 2,212 individuals of the Health2000 study ( http://www.terveys2000.fi/doc/methodologyrep.pdf ) collected as metabolic syndrome cases and their matched controls." . _:108c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENMETS"; . _:108d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenMets"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3976; , ; "GCST90668562"; "A cross-sectional case–control study of 374 people with and without type 2 diabetes, of Arab and Asian descent, enrolled in February–June 2012 at the Dermatology Department of Hamad Medical Corporation in Doha, Qatar, with metabolomic profiling of saliva, blood plasma and urine to study metabolic dysregulation in diabetes."; 374; "QMDiab"; ; rdfs:label "Qatar Metabolomics Study on Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3976 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:108e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3976; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4499109/fullTextXML"; rdfs:comment "Inclusion criteria were a primary form of type 2 diabetes (for patients) or an absence of type 2 diabetes (for controls)." . _:108f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4499109/fullTextXML"; rdfs:comment "All study participants were enrolled between February 2012 and June 2012 at the Dermatology Department of Hamad Medical Corporation (HMC) in Doha, Qatar." . _:10902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90668562"; "A genome-wide association study in 10,000 individuals links plasma N-glycome to liver disease and anti-inflammatory proteins."; "PMID:40593539", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12218978/fullTextXML"; rdfs:comment "We conducted a multicenter study using data from seven studies – TwinsUK (N = 3918), EPIC-Potsdam (N = 2192), PainOmics (N = 1873), SOCCS (N = 1742), SABRE (N = 544), QMDiab (N = 325), and CEDAR (N = 170) with a total sample size N = 10,764." . _:10912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional case–control study of 374 people with and without type 2 diabetes, of Arab and Asian descent, enrolled in February–June 2012 at the Dermatology Department of Hamad Medical Corporation in Doha, Qatar, with metabolomic profiling of saliva, blood plasma and urine to study metabolic dysregulation in diabetes."; "PMID:26049400"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 374; "participants with and without type 2 diabetes enrolled February-June 2012"; "PMID:26049400"; rdfs:comment "This study was embedded in the Qatar Metabolomics Study on Diabetes (QMDiab), a cross-sectional case–control study with 374 participants [13, 20]." . _:10932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QMDiab"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3983; , ; , , , ; "GCST90104704", "PGS001351"; "A prospective family-based cohort, begun in 1983 at Johns Hopkins, of European American and African American families of probands with premature coronary disease identified in Baltimore-area hospitals, studied to determine the environmental, phenotypic and genetic causes of premature cardiovascular disease, including platelet response to a two-week aspirin trial."; 3003; "GENESTAR", "GeneSTAR", "GeneSTAR family-based study", "GeneSTAR_b", "GeneStar", "Genetic STudy of Aspirin Responsiveness", "Genetic Studies of Atherosclerosis Risk", "Genetic Study of Aspirin Responsiveness", "JH-SFHS", "Johns Hopkins - Genetic STudy of Atherosclerosis Risk", "Johns Hopkins GeneSTAR Research Program", "Johns Hopkins Genetic Study of Atherosclerosis Risk", "Johns Hopkins Sibling and Family Heart Study"; , ; rdfs:label "Genetic Study of Atherosclerosis Risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid3983 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3983; "premature coronary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9086181/fullTextXML"; rdfs:comment "Participants came from EA and AA families identified from 1983 to 2006 from probands with a premature coronary disease event before 60 years of age who were identified at the time of hospitalization in any of 10 Baltimore area hospitals." . _:10952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9086181/fullTextXML"; rdfs:comment "Participants came from EA and AA families identified from 1983 to 2006 from probands with a premature coronary disease event before 60 years of age who were identified at the time of hospitalization in any of 10 Baltimore area hospitals." . _:10962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104704"; "Secondary analyses for genome-wide association studies using expression quantitative trait loci."; "PMID:35312098", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9086181/fullTextXML"; rdfs:comment "GeneSTAR is an ongoing prospective study begun in 1983 designed to determine environmental, phenotypic, and genetic causes of premature cardiovascular disease." . _:10972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001351"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833" . _:10982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective family-based cohort, begun in 1983 at Johns Hopkins, of European American and African American families of probands with premature coronary disease identified in Baltimore-area hospitals, studied to determine the environmental, phenotypic and genetic causes of premature cardiovascular disease, including platelet response to a two-week aspirin trial."; "PMID:35312098", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-025-58420-2/MediaObjects/41467_2025_58420_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3003; "family members in the GeneSTAR aspirin trial, 2003-2006"; "PMID:34131117"; rdfs:comment "Of the 3003 participants in the aspirin trial, 1786 were selected for whole-genome sequencing (WGS) in the Trans-Omics for Precision Medicine (TOPMed) Program based on 1) complete platelet function phenotyping and 2) largest family size." . _:109a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENESTAR"; . _:109b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneSTAR"; . _:109c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneSTAR_b"; . _:109d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneStar"; . _:109e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JH-SFHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid3995; , ; , ; , , , , , , , , , , , , ; "GCST90301399", "PGS000148"; "A prospective cohort of 121,700 female registered nurses in the United States aged 30–55 when enrolled through a baseline questionnaire in 1976, followed by repeated questionnaires and biospecimen collection to study lifestyle and other risk factors for major chronic diseases in women."; "The acronym Harvard also denotes Mass General Brigham Biobank (COHO:0000383), Health Professionals Follow-up Study (COHO:0000527) and Nurses' Health Study II (COHO:0000619); this term is Nurses' Health Study."@en, "The acronym NHS also denotes US Military HIV Natural History Study (COHO:0002528); this term is Nurses' Health Study."@en; 121700; "Harvard", "NHS", "NHS I", "NHS-Hu", "NHS-cgems", "NHS-egems", "NHS1", "NHS3", "Nurses Health Study", "Nurses' Health Study I"; , , ; rdfs:label "Nurses' Health Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid3995 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:109f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid3995; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27459450+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Over 40 years, these studies have generated long-term, multidimensional data, including lifestyle- and health-related information across the life course and an extensive repository of various biological specimens." . _:10a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "The third replication dataset was derived from two prospective cohort studies in the US: the Nurses’ Health Study and the Health Professionals Follow-up Study [13, 55]." . _:10a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301399"; "Germline genetic regulation of the colorectal tumor immune microenvironment."; "PMID:38664626", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "The third replication dataset was derived from two prospective cohort studies in the US: the Nurses’ Health Study and the Health Professionals Follow-up Study [13, 55]." . _:10a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000148"; "Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors."; "PMID:29458155" . _:10a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 121,700 female registered nurses in the United States aged 30–55 when enrolled through a baseline questionnaire in 1976, followed by repeated questionnaires and biospecimen collection to study lifestyle and other risk factors for major chronic diseases in women."; "PMID:27459450", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10173489/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 121700; "married female registered nurses enrolled in 1976"; "PMID:27459450"; rdfs:comment "We have summarized the evolution of the Nurses' Health Study (NHS), a prospective cohort study of 121 700 married registered nurses launched in 1976; NHS II, which began in 1989 and enrolled 116 430 nurses; and NHS3, which began in 2010 and has ongoing enrollment." . _:10a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harvard"; . _:10a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS"; . _:10a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS I"; . _:10a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS-Hu"; . _:10a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS-cgems"; . _:10aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS-egems"; . _:10ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS1"; . _:10ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS3"; . a owl:NamedIndividual, ; , ; , , ; "GCST90267372"; "An electronic health record-linked biobank cohort of more than 170,000 patients of the University of Pennsylvania Health System (Penn Medicine), about 30% of non-European ancestry, who consented to link their health records to genomic and biomarker data and to recontact, for genomic discovery and precision medicine research."; "The acronym Penn also denotes UPenn Local TGCT Study (COHO:0001388); this term is Penn Medicine BioBank."@en; 174000; "PMB", "PMBB", "Penn", "Penn Medicine Biobank"; ; rdfs:label "Penn Medicine BioBank"@en . _:10ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36556195+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine)." . _:10ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267372"; "The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort."; "PMID:37255673", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37255673+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To understand the biology of mtCN, we carried out genome- and phenome-wide association studies of mtCN in 30,666 individuals from the Penn Medicine BioBank (PMBB)-a diverse cohort of largely African and European ancestry." . _:10af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An electronic health record-linked biobank cohort of more than 170,000 patients of the University of Pennsylvania Health System (Penn Medicine), about 30% of non-European ancestry, who consented to link their health records to genomic and biomarker data and to recontact, for genomic discovery and precision medicine research."; "PMID:36556195"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 174000; "participants enrolled as of September 2022 (stated as over 174,000; lower bound)"; "PMID:36556195"; rdfs:comment "As of September 2022, the PMBB had enrolled over 174,000 participants, obtained biospecimens on >70,000 participants, and generated genomic data on ~44,000 of its participants." . _:10b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMB"; . _:10b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMBB"; . _:10b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Penn"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4017, _:genid-371333f489424440b12a13b9d98ced822608-genid4019, _:genid-371333f489424440b12a13b9d98ced822608-genid4021; , ; ; "GCST90281046"; "A population-based case-control study established in Sweden in 1996, enrolling incident rheumatoid arthritis cases (now more than 5000) from the middle and southern regions of Sweden together with population controls, used to study genetic risk factors for rheumatoid arthritis and its ACPA-defined subsets and environmental factors such as cigarette smoking."; 3515; 5429; "EIRA", "Epidemiological Investigation of RA", "Swedish Epidemiological Investigation of RA"; ; rdfs:label "Epidemiological Investigation of Rheumatoid Arthritis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4017 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4019 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4021 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4017; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "EIRA, a case–control study established in 1996, currently contains >5000 incident RA cases from the middle and southern regions of Sweden [18]." . _:10b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4019; "cigarette smoking"; "https://europepmc.org/api/getPdf?pmcid=PMC1754669"; rdfs:comment "To investigate the influence of environmental factors on the risk of developing RA and the interaction of these factors with genotype we started an extensive case-control study—the Epidemiological Investigation of RA (EIRA) study." . _:10b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4021; "environmental factors"; "https://europepmc.org/api/getPdf?pmcid=PMC1754669"; rdfs:comment "To investigate the influence of environmental factors on the risk of developing RA and the interaction of these factors with genotype we started an extensive case-control study—the Epidemiological Investigation of RA (EIRA) study." . _:10b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "EIRA, a case–control study established in 1996, currently contains >5000 incident RA cases from the middle and southern regions of Sweden [18]." . _:10b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281046"; "Genome-wide investigation of persistence with methotrexate treatment in early rheumatoid arthritis."; "PMID:37326842", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "Our primary analysis cohort consisted of early-RA patients receiving MTX in DMARD monotherapy as their first RA treatment, identified in the Epidemiological Investigation of RA (EIRA) biobank or the Swedish Rheumatology Quality Register’s (SRQ) biobank (SRQb)." . _:10b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study established in Sweden in 1996, enrolling incident rheumatoid arthritis cases (now more than 5000) from the middle and southern regions of Sweden together with population controls, used to study genetic risk factors for rheumatoid arthritis and its ACPA-defined subsets and environmental factors such as cigarette smoking."; "PMID:12922955", "PMID:21156761", "PMID:37326842"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3515; "incident RA cases and population controls recruited 1995-2016; no total stated"; "PMID:35168998"; rdfs:comment "This case–control study involved 3515 incident RA cases and 5429 controls recruited to the EIRA study between 1995 and 2016, within 1 year since RA symptom onset." . _:10bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5429; "incident RA cases and population controls recruited 1995-2016; no total stated"; "PMID:35168998"; rdfs:comment "This case–control study involved 3515 incident RA cases and 5429 controls recruited to the EIRA study between 1995 and 2016, within 1 year since RA symptom onset." . _:10bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EIRA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4029, _:genid-371333f489424440b12a13b9d98ced822608-genid4031; , ; , ; "GCST90012174"; "A prospective cohort of 3,808 patients from the Ludwigshafen, Mannheim and Heidelberg area of south-west Germany, enrolled between July 1997 and March 2002 when they underwent coronary angiography at the municipal hospital of Ludwigshafen, with and without coronary artery disease, examined at baseline (medical history, physical examination, glucose tolerance test and blood sampling) and followed up from 2004, to investigate genetic and environmental risk factors for cardiovascular diseases. Most analyses use its 3,316 participants of German ancestry recruited between July 1997 and January 2000."; 3808; "AtheroRemo", "AtheroRemo 1", "AtheroRemo 2", "LURIC", "LURIC Health Study", "LURIC study", "LURIC/AtheroRemo", "LURIC/AtheroRemo 1", "LURIC/AtheroRemo 2", "Ludwigshafen Risk and Cardiovascular Health"; ; rdfs:label "Ludwigshafen Risk and Cardiovascular Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4029 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4031 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4029; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11631318/fullTextXML"; rdfs:comment "A total of 3316 patients, who were referred for coronary angiography to the Ludwigshafen Heart Center in South‐West Germany, were recruited between July 1997 and January 2000." . _:10be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4031; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11631318/fullTextXML"; rdfs:comment "A total of 3316 patients, who were referred for coronary angiography to the Ludwigshafen Heart Center in South‐West Germany, were recruited between July 1997 and January 2000." . _:10bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10964567/fullTextXML"; rdfs:comment "We thank the LURIC study team who were either temporarily or permanently involved in patient recruitment as well as sample and data handling, in addition to the laboratory staff at the Ludwigshafen General Hospital and the Universities of Freiburg and Ulm, Germany." . _:10c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90012174"; "Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study."; "PMID:32915819", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7485803/fullTextXML"; rdfs:comment "We performed interaction analyses using the two filtering methods, adjusting for age, sex, body mass index (BMI), waist-hip ratio, and the first three principal components from genetic data, among 2,824 samples from the Ludwigshafen Risk and Cardiovascular (LURIC) Health Study." . _:10c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 3,808 patients from the Ludwigshafen, Mannheim and Heidelberg area of south-west Germany, enrolled between July 1997 and March 2002 when they underwent coronary angiography at the municipal hospital of Ludwigshafen, with and without coronary artery disease, examined at baseline (medical history, physical examination, glucose tolerance test and blood sampling) and followed up from 2004, to investigate genetic and environmental risk factors for cardiovascular diseases. Most analyses use its 3,316 participants of German ancestry recruited between July 1997 and January 2000."; "PMID:32915819", "PMID:39003598", "https://www.luric.online"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3808; "patients enrolled July 1997 to March 2002 (whole cohort)"; "https://www.luric.online"; rdfs:comment "Zwischen Juli 1997 und März 2002 wurden 3.808 Personen aus dem Großraum Ludwigshafen · Mannheim · Heidelberg eingeschlossen." . _:10c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AtheroRemo"; . _:10c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AtheroRemo 1"; . _:10c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AtheroRemo 2"; . _:10c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LURIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4041, _:genid-371333f489424440b12a13b9d98ced822608-genid4043, _:genid-371333f489424440b12a13b9d98ced822608-genid4045; ; , ; "GCST90278455"; "A community-based, family-based study of European American and African American siblings concordant for type 2 diabetes and their unaffected relatives (1,443 participants from 564 families), recruited from internal medicine and endocrinology clinics in western North Carolina, United States, and examined at Wake Forest Baptist Medical Center to study genetic and epidemiological contributions to diabetic heart disease and subclinical cardiovascular disease; a parallel African American-Diabetes Heart Study (AA-DHS) later enrolled unrelated African Americans with type 2 diabetes to study ethnic differences in calcified atherosclerotic plaque."; "The acronym DHS also denotes Dortmund Health Study (COHO:0000054), deCODE Health Study (COHO:0000468) and Dallas Heart Study (COHO:0001309); this term is Diabetes Heart Study."@en; 1443; "DHS", "DiabHS", "The Diabetes Heart Study"; rdfs:label "Diabetes Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4041 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4043 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4045 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4041; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3609509/fullTextXML"; rdfs:comment "The Diabetes Heart Study (DHS) is a community-based study of the genetic and epidemiological contributions to diabetic heart disease in which siblings concordant for type 2 diabetes mellitus (T2DM), as well as unaffected family members, were recruited from internal medicine and endocrinology clinics in western North Carolina." . _:10c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4043; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3609509/fullTextXML"; rdfs:comment "The Diabetes Heart Study (DHS) is a community-based study of the genetic and epidemiological contributions to diabetic heart disease in which siblings concordant for type 2 diabetes mellitus (T2DM), as well as unaffected family members, were recruited from internal medicine and endocrinology clinics in western North Carolina." . _:10c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4045; "diabetic heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3609509/fullTextXML"; rdfs:comment "The Diabetes Heart Study (DHS) is a community-based study of the genetic and epidemiological contributions to diabetic heart disease in which siblings concordant for type 2 diabetes mellitus (T2DM), as well as unaffected family members, were recruited from internal medicine and endocrinology clinics in western North Carolina." . _:10ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3609509/fullTextXML"; rdfs:comment "The Diabetes Heart Study (DHS) is a community-based study of the genetic and epidemiological contributions to diabetic heart disease in which siblings concordant for type 2 diabetes mellitus (T2DM), as well as unaffected family members, were recruited from internal medicine and endocrinology clinics in western North Carolina." . _:10cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90278455"; "Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification."; "PMID:37770635", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-023-01518-4/MediaObjects/41588_2023_1518_MOESM1_ESM.pdf"; rdfs:comment "Diabetes Heart Study (DHS): This work was supported by R01 HL92301, R01 HL67348, R01 NS058700, R01 AR48797, R01 DK071891, R01 AG058921, the General Clinical Research Center of the Wake Forest University School of Medicine (M01 RR07122, F32 HL085989), the American Diabetes Association, and a pilot grant from the Claude Pepper Older Americans Independence Center of Wake Forest University Health Sciences (P60 AG10484)." . _:10cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based, family-based study of European American and African American siblings concordant for type 2 diabetes and their unaffected relatives (1,443 participants from 564 families), recruited from internal medicine and endocrinology clinics in western North Carolina, United States, and examined at Wake Forest Baptist Medical Center to study genetic and epidemiological contributions to diabetic heart disease and subclinical cardiovascular disease; a parallel African American-Diabetes Heart Study (AA-DHS) later enrolled unrelated African Americans with type 2 diabetes to study ethnic differences in calcified atherosclerotic plaque."; "PMID:21409311", "PMID:23230101", "PMID:29221444"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1443; "European American and African American participants from 564 families"; "PMID:21409311"; rdfs:comment "The Diabetes Heart Study (DHS) is a genetic and epidemiological study of 1443 European American and African American participants from 564 families with multiple cases of type 2 diabetes." . _:10ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHS"; . _:10cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DiabHS"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , , ; "PMID:27089181"; "A consortium of about 30 cohorts with genome-wide genotype and personality data, which harmonized personality measures across inventories in more than 63,000 participants for genome-wide association meta-analyses of personality traits such as neuroticism and their relation to major depressive disorder."; "The acronym GPC also denotes Uganda General Population Cohort (COHO:0000345); this term is Genetics of Personality Consortium."@en; 63661; "GPC"; rdfs:label "Genetics of Personality Consortium"@en . _:10d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Avon Longitudinal Study of Parents and their Children (ALSPAC) is a longitudinal population-based birth cohort that recruited pregnant women residing in Avon, UK, with an expected delivery date between 1st April 1991 and 31st December 1992." . _:10d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "9. KORCULA (Polasek et al. 2009) — Croatia. This study was performed in the eastern part of the island of Korčula, Croatia between March and December 2007." . _:10d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Erasmus Rucphen Family (ERF) study is a family-based study including over 3 000 individuals from an isolated population in the Southwest region of the Netherlands." . _:10d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Estonian cohort comes from the population-based biobank of the Estonian Genome Project of University of Tartu (EGCUT)." . _:10d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Finnish twin cohort consisted of 30 654 respondents, of which 28 767 completed the Eysenck Personality Inventory (EPI; an alternative version of the EPQ) at least once." . _:10d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "Data on personality in the Netherlands Twin Register (NTR) were collected as part of a longitudinal study on health, personality and lifestyle in adolescent and adult twins and their relatives" . _:10d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "13. NBS (Kiemeney et al. 2008) — The Netherlands. In 2000 a study was initiated among the inhabitants of the municipality of Nijmegen by different departments of the Radboud University Nijmegen Medical Centre" . _:10d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Orkney Complex Disease Study (ORCADES) is a genetic epidemiology study based in an isolated population in the north of Scotland." . _:10d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "For the Swedish Twin Registry (STR), in 1970 a cohort of twins born in 1926–67 was compiled, by use of nationalized birth registrations." . _:10d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Baltimore Longitudinal Study of Aging (BLSA) is an ongoing multidisciplinary study of community-dwelling volunteers." . _:10da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Young Finns Study is an ongoing multicenter follow-up study of Finnish children and adolescents started in 1980 with a baseline sample of 3 596 individuals." . _:10db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4667957/unicode"; rdfs:comment "The Generation Scotland cohort (N=9,786) was included for replication of GWA top results." . _:10dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The NESDA data for the present study were drawn from the Netherlands Study of Depression and Anxiety(Penninx et al.), an ongoing longitudinal cohort study aimed at examining the long-term course of depressive and anxiety disorders in different health care settings and phases of illness." . _:10dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Helsinki Birth Cohort Study (HBCS) is composed of 8 760 individuals born between the years 1934 and 1944 in one of the two main maternity hospitals in Helsinki, Finland." . _:10de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "22. VIS (Ivkovic et al. 2007) — Croatia. Adult participants living in the villages of Komiza and Vis on the Croatian island of Vis were recruited in May 2003 and May 2004 for a large genetic study." . _:10df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "Data from the Minnesota Center for Twin and Family Research (MCTFR) were collected as part of two different longitudinal studies, the Minnesota Twin Family Study (MTFS) and the Sibling Interaction and Behavior Study (SIBS)." . _:10e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Lothian Birth Cohort 1936 (LBC1936) study consists of a cohort of 1 091 individuals born in 1936." . _:10e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The Lothian Birth Cohort 1921 (LBC1921) study consists of a cohort of 550 individuals born in 1921." . _:10e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "17. PAGES (van den Oord et al. 2008) — Germany. In this German cohort, healthy control participants were randomly selected from the general population of Munich, Germany, and contacted by mail." . _:10e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "COGEND was initiated in 2001 as a three-part program project grant funded through the National Cancer Institute (NCI; PI: Laura Bierut)." . _:10e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057636/supplementaryFiles"; rdfs:comment "The sample used in this study consisted of 649 participants drawn from the Collaborative Study on the Genetics of Alcoholism (COGA) that all completed the TCI." . _:10e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27089181"; "Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses."; "PMID:27089181", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4884152/fullTextXML"; rdfs:comment "For neuroticism (N = 170,910), we pooled summary statistics from a published study by the Genetics of Personality Consortium (GPC)4 with results from a new analysis of UKB data." . _:10e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of about 30 cohorts with genome-wide genotype and personality data, which harmonized personality measures across inventories in more than 63,000 participants for genome-wide association meta-analyses of personality traits such as neuroticism and their relation to major depressive disorder."; "PMID:25993607"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 63661; "participants from 29 cohorts in the 2015 neuroticism GWAS meta-analysis"; "PMID:25993607"; rdfs:comment "Here we report results of the largest GWA study for neuroticism so far, conducted in 63,661 participants from 29 cohorts." . _:10e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4078; , , ; "PMID:41795035"; "A case–control collection of children with type 1 diabetes and controls from multiple paediatric centres in China, used to validate polygenic risk scores for type 1 diabetes in an East Asian population."; "The acronym GRACE also denotes Global Registry of Acute Coronary Events (COHO:0000192); this term is Genetic Risk Assessment for Chinese Eaglet-T1D."@en, "The acronym GRACE resembles GR@ACE, which denotes Genome Research at Fundació ACE (COHO:0000258); this term is Genetic Risk Assessment for Chinese Eaglet-T1D."@en; 294; 303; 597; "GRACE", "GRACE-T1D"; rdfs:label "Genetic Risk Assessment for Chinese Eaglet-T1D"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4078 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4078; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13109230/fullTextXML"; rdfs:comment "We validated our results in two independent type 1 diabetes case–control cohorts (Children's Hospital of Philadelphia, Center for Applied Genomics [CHOP-CAG] and Genetic Risk Assessment for Chinese Eaglet-T1D [GRACE]) and two population-based cohorts (All of Us and UK Biobank)." . _:10ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13109230/fullTextXML"; rdfs:comment "Ncontrols=427,069) and in a Chinese case–control cohort across multiple paediatric centres named Genetic Risk Assessment for Chinese Eaglet-T1D (GRACE, N=597;" . _:10eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41795035"; "Development and validation of a trans-ancestry polygenic risk score for type 1 diabetes."; "PMID:41795035", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13109230/fullTextXML"; rdfs:comment "Ncontrols=427,069) and in a Chinese case–control cohort across multiple paediatric centres named Genetic Risk Assessment for Chinese Eaglet-T1D (GRACE, N=597;" . _:10ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control collection of children with type 1 diabetes and controls from multiple paediatric centres in China, used to validate polygenic risk scores for type 1 diabetes in an East Asian population."; "PMID:41795035"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 294; "type 1 diabetes cases and controls from paediatric centres used for PRS validation"; "PMID:41795035"; rdfs:comment "Specifically, in the multi-ancestry All of Us Biobank (AoU, N=89,699; Ncases=1084; Ncontrols=88,635), in a case–control multi-ancestry cohort from the Children's Hospital of Philadelphia, Center for Applied Genomics (CHOP-CAG, N=6498; Ncases=1094; Ncontrols=5404), in the UK Biobank (UKB, N=427,847; Ncases=778; Ncontrols=427,069) and in a Chinese case–control cohort across multiple paediatric centres named Genetic Risk Assessment for Chinese Eaglet-T1D (GRACE, N=597; Ncases=294; Ncontrols=303)." . _:10ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 303; "type 1 diabetes cases and controls from paediatric centres used for PRS validation"; "PMID:41795035"; rdfs:comment "Specifically, in the multi-ancestry All of Us Biobank (AoU, N=89,699; Ncases=1084; Ncontrols=88,635), in a case–control multi-ancestry cohort from the Children's Hospital of Philadelphia, Center for Applied Genomics (CHOP-CAG, N=6498; Ncases=1094; Ncontrols=5404), in the UK Biobank (UKB, N=427,847; Ncases=778; Ncontrols=427,069) and in a Chinese case–control cohort across multiple paediatric centres named Genetic Risk Assessment for Chinese Eaglet-T1D (GRACE, N=597; Ncases=294; Ncontrols=303)." . _:10ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 597; "type 1 diabetes cases and controls from paediatric centres used for PRS validation"; "PMID:41795035"; rdfs:comment "Specifically, in the multi-ancestry All of Us Biobank (AoU, N=89,699; Ncases=1084; Ncontrols=88,635), in a case–control multi-ancestry cohort from the Children's Hospital of Philadelphia, Center for Applied Genomics (CHOP-CAG, N=6498; Ncases=1094; Ncontrols=5404), in the UK Biobank (UKB, N=427,847; Ncases=778; Ncontrols=427,069) and in a Chinese case–control cohort across multiple paediatric centres named Genetic Risk Assessment for Chinese Eaglet-T1D (GRACE, N=597; Ncases=294; Ncontrols=303)." . _:10f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRACE"; . _:10f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRACE-T1D"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4088, _:genid-371333f489424440b12a13b9d98ced822608-genid4090; ; , ; , ; "PMID:28245255"; "A prospective cohort of patients of the Academic Medical Center, Amsterdam, with symptomatic coronary artery disease (myocardial infarction, coronary revascularization or at least 70% stenosis of a major epicardial artery) before the age of 51, used in genetic studies of premature atherosclerosis and coronary artery disease."; "The acronym AMC-PAS also denotes Premature Atherosclerosis Study pedigrees (COHO:0000322); this term is Academic Medical Center Amsterdam Premature Atherosclerosis Study."@en; 979; "AMC-PAS", "Premature Atherosclerosis Study"; rdfs:label "Academic Medical Center Amsterdam Premature Atherosclerosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4088 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4090 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4088; "premature atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5330464/fullTextXML"; rdfs:comment "We included a total of 979 unique patients from the previously described prospective cohort AMC-PAS[6], with symptomatic Coronary Artery Disease (CAD) before the age of 51 years, defined as Myocardial Infarction (MI), coronary revascularization, or evidence of at least 70% stenosis in a major epicardial artery." . _:10f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4090; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5330464/fullTextXML"; rdfs:comment "We included a total of 979 unique patients from the previously described prospective cohort AMC-PAS[6], with symptomatic Coronary Artery Disease (CAD) before the age of 51 years, defined as Myocardial Infarction (MI), coronary revascularization, or evidence of at least 70% stenosis in a major epicardial artery." . _:10f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4889017/unicode"; rdfs:comment "PAS, Premature Atherosclerosis Study—Academic Medical Center—Amsterdam;" . _:10f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28245255"; "Extending the use of GWAS data by combining data from different genetic platforms."; "PMID:28245255", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5330464/fullTextXML"; rdfs:comment "We included a total of 979 unique patients from the previously described prospective cohort AMC-PAS[6], with symptomatic Coronary Artery Disease (CAD) before the age of 51 years, defined as Myocardial Infarction (MI), coronary revascularization, or evidence of at least 70% stenosis in a major epicardial artery." . _:10f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of patients of the Academic Medical Center, Amsterdam, with symptomatic coronary artery disease (myocardial infarction, coronary revascularization or at least 70% stenosis of a major epicardial artery) before the age of 51, used in genetic studies of premature atherosclerosis and coronary artery disease."; "PMID:28245255"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 979; "AMC-PAS patients genotyped on one or more platforms (analysed subset), 2017"; "PMID:28245255"; rdfs:comment "We included a total of 979 unique patients from the previously described prospective cohort AMC-PAS[6], with symptomatic Coronary Artery Disease (CAD) before the age of 51 years, defined as Myocardial Infarction (MI), coronary revascularization, or evidence of at least 70% stenosis in a major epicardial artery." . _:10f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMC-PAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4097; , ; "GCST90014287"; "A long-term community-based cohort of Black and white children and adolescents in the rural biracial community of Bogalusa, Louisiana, United States, begun in 1972 by an NHLBI-funded research centre to study cardiovascular risk factors from early life and followed into adulthood."; "The acronym BHS also denotes Busselton Health Study (COHO:0000389) and Baependi Heart Study (COHO:0000623); this term is Bogalusa Heart Study."@en; 8385; "BHS", "BHS_b"; ; rdfs:label "Bogalusa Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4097 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:10f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4097; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/supplementaryFiles"; rdfs:comment "The BHS is a long-term epidemiology study of the natural history of cardiovascular disease from childhood to adulthood in the community of Bogalusa (65% white, 35% African American), Louisiana, the United States" . _:10fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11876192+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Bogalusa, LA, is a biracial (black/white) rural community 70 miles north of New Orleans, comparable to many other communities in southeastern United States." . _:10fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014287"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/supplementaryFiles"; rdfs:comment "The BHS is a long-term epidemiology study of the natural history of cardiovascular disease from childhood to adulthood in the community of Bogalusa (65% white, 35% African American), Louisiana, the United States" . _:10fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A long-term community-based cohort of Black and white children and adolescents in the rural biracial community of Bogalusa, Louisiana, United States, begun in 1972 by an NHLBI-funded research centre to study cardiovascular risk factors from early life and followed into adulthood."; "PMID:11876192"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:10fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8385; "different children recruited in 9 childhood surveys, 1973-2016 (3780 re-examined as adults)"; "PMID:36197664"; rdfs:comment "The total number of different individuals recruited in these surveys was 8385 children and 3780 adults." . _:10fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHS"; . _:10ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4105, _:genid-371333f489424440b12a13b9d98ced822608-genid4107; , ; "GCST90027030"; "A family-based longitudinal cohort of children with speech sound disorder of unknown cause and their siblings, ascertained through probands referred by speech-language pathologists in the Cleveland area of Ohio, United States, and followed for about 25 years to study long-term speech, language and literacy outcomes and their genetic basis."; "The acronym CFS also denotes Cleveland Family Study (COHO:0000427); this term is Cleveland Family Speech and Reading Study."@en; "CFS", "CFSRS"; ; rdfs:label "Cleveland Family Speech and Reading Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4105 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4107 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4105; "childhood apraxia of speech"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8316336/fullTextXML"; rdfs:comment "We conducted a GWAS in the Cleveland Family Speech and Reading Study (CFSRS), a cohort ascertained through a proband with SSD, and replicated findings in a population-based cohort." . _:11012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4107; "speech sound disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8316336/fullTextXML"; rdfs:comment "We conducted a GWAS in the Cleveland Family Speech and Reading Study (CFSRS), a cohort ascertained through a proband with SSD, and replicated findings in a population-based cohort." . _:11022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12614917/fullTextXML"; rdfs:comment "Children with a diagnosis of SSD were referred to the study from the clinical caseloads of SLPs in Ohio." . _:11032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027030"; "Association between genes regulating neural pathways for quantitative traits of speech and language disorders."; "PMID:34315907", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8316336/fullTextXML"; rdfs:comment "We conducted a GWAS in the Cleveland Family Speech and Reading Study (CFSRS), a cohort ascertained through a proband with SSD, and replicated findings in a population-based cohort." . _:11042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based longitudinal cohort of children with speech sound disorder of unknown cause and their siblings, ascertained through probands referred by speech-language pathologists in the Cleveland area of Ohio, United States, and followed for about 25 years to study long-term speech, language and literacy outcomes and their genetic basis."; "PMID:34315907", "PMID:41118674"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFS"; . _:11062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFSRS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4114; , , ; "GCST90244554"; "A consortium of investigators who attend the National Institute on Drug Abuse Genetics and Epigenetics Cross-cutting Research Team meetings and have genome-wide association data on opioid addiction, pooling previously unpublished genome-wide association studies of opioid addiction from twelve cohort samples, ten with European-ancestry and seven with African-ancestry participants, among them Yale-Penn, the Collaborative Study on the Genetics of Alcoholism and the Urban Health Study in the United States, the Vancouver Injection Drug Users Study in Canada, deCODE in Iceland, the Genetic Epidemiology of Opioid Dependence in Bulgaria study, the Comorbidity and Trauma Study in Australia and the AIDS Linked to the IntraVenous Experience cohort, to study the genetics of opioid addiction."; "The acronym GENOA also denotes Genetic Epidemiology Network of Arteriopathy (COHO:0000434) and Genetics of Opioid Addiction Study (COHO:0000467); this term is Genetics of Opioid Addiction Consortium."@en; "GENOA"; ; rdfs:label "Genetics of Opioid Addiction Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4114 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4114; "opioid addiction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36207451+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We applied genomic structural equation modeling to conduct a GWAS of the new Genetics of Opioid Addiction Consortium (GENOA) data together with published studies (Psychiatric Genomics Consortium, Million Veteran Program, and Partners Health), comprising 23,367 cases and effective sample size of 88,114 individuals of European ancestry." . _:11082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9546890/fullTextXML"; rdfs:comment "V.R., T.T., G.E., D.F.G., K.S., and T.T. contributed the deCODE cohort to the GENOA analysis." . _:11092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9546890/fullTextXML"; rdfs:comment "JG, HRK, and HZ contributed the Yale-Penn cohort to the GENOA analysis." . _:110a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9546890/fullTextXML"; rdfs:comment "LW, DL, KB, TF, AA, BP, and HE contributed the COGA cohort to the GENOA analysis." . _:110b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244554"; "Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond."; "PMID:36207451", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36207451+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We applied genomic structural equation modeling to conduct a GWAS of the new Genetics of Opioid Addiction Consortium (GENOA) data together with published studies (Psychiatric Genomics Consortium, Million Veteran Program, and Partners Health), comprising 23,367 cases and effective sample size of 88,114 individuals of European ancestry." . _:110c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of investigators who attend the National Institute on Drug Abuse Genetics and Epigenetics Cross-cutting Research Team meetings and have genome-wide association data on opioid addiction, pooling previously unpublished genome-wide association studies of opioid addiction from twelve cohort samples, ten with European-ancestry and seven with African-ancestry participants, among them Yale-Penn, the Collaborative Study on the Genetics of Alcoholism and the Urban Health Study in the United States, the Vancouver Injection Drug Users Study in Canada, deCODE in Iceland, the Genetic Epidemiology of Opioid Dependence in Bulgaria study, the Comorbidity and Trauma Study in Australia and the AIDS Linked to the IntraVenous Experience cohort, to study the genetics of opioid addiction."; "PMID:36207451", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9546890/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:110d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENOA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4122; , ; "GCST90454192"; "A prospective cohort of adults with opioid use disorder receiving treatment, mainly methadone maintenance treatment, at Canadian Addiction Treatment Centre (formerly Ontario Addiction Treatment Centres) clinics in Ontario, Canada, recruited by McMaster University with the clinics in a pilot at four clinics in 2011–2012 and a main phase in 2013–2016 (about 1,500 participants, interviewed at entry, giving blood for DNA and followed through the urine drug screens in their medical records), to identify factors, including genetic risk factors, associated with opioid use and treatment outcomes."; "The acronym GENOA also denotes Genetic Epidemiology Network of Arteriopathy (COHO:0000434) and Genetics of Opioid Addiction Consortium (COHO:0000466); this term is Genetics of Opioid Addiction Study."@en; 1536; "GENOA", "GENetics of Opioid Addiction", "Genetics of Opioid Addiction research collaborative", "Genetics of Opioid Addiction research program"; ; rdfs:label "Genetics of Opioid Addiction Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4122 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:110e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4122; "opioid use disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "The GENOA and POST studies were designed to identify factors associated with opioid use and treatment outcomes including genetic risk factors in patients diagnosed with OUD and receiving treatment37." . _:110f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "Briefly, participants (nGENOA = 1536, nPOST = 3319) were recruited from 76 CATC sites across Ontario, Canada (GENOA, 2013–2016, POST, 2018–present)." . _:11102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454192"; "A genome-wide association, polygenic risk score and sex study on opioid use disorder treatment outcomes."; "PMID:38102185", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "Data were collected as part of the GENetics of Opioid Addiction (GENOA) and Pharmacogenetics of Opioid Substitution Treatment Response (POST) programs." . _:11112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of adults with opioid use disorder receiving treatment, mainly methadone maintenance treatment, at Canadian Addiction Treatment Centre (formerly Ontario Addiction Treatment Centres) clinics in Ontario, Canada, recruited by McMaster University with the clinics in a pilot at four clinics in 2011–2012 and a main phase in 2013–2016 (about 1,500 participants, interviewed at entry, giving blood for DNA and followed through the urine drug screens in their medical records), to identify factors, including genetic risk factors, associated with opioid use and treatment outcomes."; "PMID:25187714", "PMID:27103815", "PMID:37494403", "PMID:38102185"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1536; "participants recruited in the main GENOA phase (2013-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "Briefly, participants (nGENOA = 1536, nPOST = 3319) were recruited from 76 CATC sites across Ontario, Canada (GENOA, 2013–2016, POST, 2018–present)." . _:11132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENOA"; . a owl:NamedIndividual, ; , ; ; "GCST012442"; "A general-population sample of Icelanders, enriched for carriers of rare and potentially high-impact mutations, comprehensively phenotyped by deCODE genetics in Iceland (e.g. audiometry, speech recordings, DXA body composition, plasma proteomics) and combined with the Icelandic genotype and sequence data for genetic association studies."; "The acronym DHS also denotes Dortmund Health Study (COHO:0000054), Diabetes Heart Study (COHO:0000460) and Dallas Heart Study (COHO:0001309); this term is deCODE Health Study."@en; 14144; "DHS", "dHS", "deCODE health study"; ; rdfs:label "deCODE Health Study"@en . _:11142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10256171/fullTextXML"; rdfs:comment "Speech samples were obtained from 14,144 Icelandic participants as a part of the deCODE Health Study in Iceland, which involves comprehensive phenotyping of a general population sample." . _:11152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10256171/fullTextXML"; rdfs:comment "These phenotypes were collected through the deCODE Health Study and other research projects at deCODE genetics." . _:11162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST012442"; "The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis."; "PMID:34108613", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8190123/fullTextXML"; rdfs:comment "We conducted a GWAS of ARHI in three datasets obtained from the deCODE health study (DHS)24, the National Institute of Hearing and Speech in Iceland (NIHSI) and the UKB (Fig. 1, Supplementary Table 2)." . _:11172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A general-population sample of Icelanders, enriched for carriers of rare and potentially high-impact mutations, comprehensively phenotyped by deCODE genetics in Iceland (e.g. audiometry, speech recordings, DXA body composition, plasma proteomics) and combined with the Icelandic genotype and sequence data for genetic association studies."; "PMID:33982893", "PMID:34108613", "PMID:37294764"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14144; "analysed subset: participants with speech samples"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10256171/fullTextXML"; rdfs:comment "Speech samples were obtained from 14,144 Icelandic participants as a part of the deCODE Health Study in Iceland, which involves comprehensive phenotyping of a general population sample." . _:11192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHS"; . _:111a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "dHS"; . a owl:NamedIndividual, ; ; , ; ; "GCST90093097"; "A population-based prospective cohort of adult Qatari nationals and long-term residents (living in Qatar for at least 15 years), recruited by the Qatar Biobank from December 2012 with extensive lifestyle, clinical, imaging and biological-sample data and long-term follow-up, to study the causes, progression and burden of disease in the Qatari population."; 17065; "QBB", "Qatar Biobank Cohort"; , ; rdfs:label "Qatar Biobank"@en; rdfs:seeAlso . _:111b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26635005+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Qatar Biobank will provide a powerful resource to investigate the major determinants of ill-health and well-being in Qatar, providing valuable insights into the current and future public health burden that faces the country." . _:111c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093097"; "A Whole-Genome Sequencing Association Study of Low Bone Mineral Density Identifies New Susceptibility Loci in the Phase I Qatar Biobank Cohort."; "PMID:33430342", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33430342+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we sequenced the whole genomes of 3000 individuals from the Qatar Biobank and conducted genome-wide association analyses to identify genetic risk factors associated with low BMD in the Qatari population." . _:111d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of adult Qatari nationals and long-term residents (living in Qatar for at least 15 years), recruited by the Qatar Biobank from December 2012 with extensive lifestyle, clinical, imaging and biological-sample data and long-term follow-up, to study the causes, progression and burden of disease in the Qatari population."; "PMID:26635005"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:111e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17065; "participants enrolled by the 2019 design paper"; "PMID:30927351"; rdfs:comment "Currently, QBB has reached 28% (n = 17,065) of the targeted enrollee population and more than 2 million biological samples." . _:111f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QBB"; . _:11202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Qatar Biobank Cohort"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4142; ; , ; "PMID:19438929"; "A population-based cohort of men born 1907–1934 and women born 1908–1935, randomly selected from residents of the Reykjavik area, examined at the Heart Preventive Clinic in Reykjavik from 1967 and followed since in Iceland by the Icelandic Heart Association, to study cardiovascular disease and its risk factors."; 18903; "Reykjavík Study"; rdfs:label "Reykjavik Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4142 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4142; "cardiovascular disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2927696/unicode"; rdfs:comment "In brief, the Reykjavik Study is a population based cohort study established in 1967 by the Icelandic Heart Association to prospectively study cardiovascular disease in Iceland." . _:11222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17351290+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This cohort of men and women born between 1907 and 1935 has been followed in Iceland since 1967 by the Icelandic Heart Association." . _:11232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19438929"; "C-reactive protein in migraine sufferers similar to that of non-migraineurs: the Reykjavik Study."; "PMID:19438929", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3133934/unicode"; rdfs:comment "The Reykjavik Study is a large, population-based cohort study, which started in 1967." . _:11242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of men born 1907–1934 and women born 1908–1935, randomly selected from residents of the Reykjavik area, examined at the Heart Preventive Clinic in Reykjavik from 1967 and followed since in Iceland by the Icelandic Heart Association, to study cardiovascular disease and its risk factors."; "PMID:17351290", "PMID:19438929", "PMID:20736269"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18903; "participants examined at entry (1967-1991)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2927696/fullTextXML"; rdfs:comment "At the start of the study, there were 18 903 participants, of whom 68 (0.36%) were lost to follow-up for cause specific mortality and 110 (0.58%) had missing data on blood pressure, cholesterol concentration, or body mass index (BMI) and were omitted." . a owl:NamedIndividual, ; , , , ; , , , , ; "PMID:27814508"; "A research programme based at Radboud University Medical Center in Nijmegen, the Netherlands, that collects distinct cohorts of healthy volunteers and patients (among them 500FG, 200FG, 300BCG, 300OB, 300DM and 2000HIV) profiled with genetic, immunological and other omics data, to identify the genetic and non-genetic determinants of human immune and cytokine responses."; "HFGP"; rdfs:label "Human Functional Genomics Project"@en . _:11262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10851559/fullTextXML"; rdfs:comment "Both cohorts are part of the Human Functional Genomics Project (wwww.humanfunctionalgenomics.org), aimed at identifying the genetic and non-genetic determinants of the immune response." . _:11272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5787854/unicode"; rdfs:comment "The 500FG cohort consists of 534 healthy individuals of Caucasian origin and is part of the Human Functional Genomics Project (HFGP)." . _:11282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473835/fullTextXML"; rdfs:comment "Both cohorts were enrolled within the Human Functional Genomics Project (https://www.humanfunctionalgenomics.org)." . _:11292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320834/fullTextXML"; rdfs:comment "The 300-Obese (300-OB) cohort, one of the studies of the Human Functional Genomics Project, comprises a group of more than 300 individuals of Western-European ancestry with a body mass index (BMI) greater than or equal to greater than or equal to 27 kg/m2, aged between 55 and 80 years (12)." . _:112a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473835/fullTextXML"; rdfs:comment "Using a 92-plex proteomic panel based on a proximity extension assay technology, we compared the inflammatory proteome of healthy Tanzanians of African origin residing in Tanzania with that of healthy individuals of Western-European ancestry living in the Netherlands." . _:112b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27814508"; "Host and Environmental Factors Influencing Individual Human Cytokine Responses."; "PMID:27814508", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5787854/unicode"; rdfs:comment "In three studies within the Human Functional Genomics Project we assessed the effect of environmental and non-genetic host factors, of the genetic make-up of the host, and of the intestinal microbiome, on the cytokine responses in humans." . _:112c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research programme based at Radboud University Medical Center in Nijmegen, the Netherlands, that collects distinct cohorts of healthy volunteers and patients (among them 500FG, 200FG, 300BCG, 300OB, 300DM and 2000HIV) profiled with genetic, immunological and other omics data, to identify the genetic and non-genetic determinants of human immune and cytokine responses."; "https://humanfunctionalgenomics.org/projects/", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10851559/fullTextXML", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5787854/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:112d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HFGP"; . a owl:NamedIndividual, ; , ; , , , , , , , , , ; "GCST90270269"; "A seven-year multicentre transfusion-medicine research programme launched in 2011 by the US National Heart, Lung, and Blood Institute, with a domestic component of four blood centres and 12 hospitals and international programmes in Brazil, China and South Africa, which built linked donor, donation and transfusion-recipient databases and ran more than 25 focused studies of blood donors and recipients, such as RBC-Omics and the Brazil sickle cell disease cohort."; "The acronym REDS-III also denotes REDS-III Brazil Sickle Cell Disease Cohort (COHO:0001397); this term is Recipient Epidemiology and Donor Evaluation Study-III."@en; "NHLBI Recipient Epidemiology Donor Evaluation Study", "National Heart, Lung, and Blood Institute Recipient Epidemiology and Donor Evaluation Study", "REDS-III", "Recipient Epidemiology Donor Evaluation Study III"; ; rdfs:label "Recipient Epidemiology and Donor Evaluation Study-III"@en . _:112e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9763692/fullTextXML"; rdfs:comment "The red blood cell (RBC)-Omics study, part of the larger NHLBI-funded Recipient Epidemiology and Donor Evaluation Study (REDS-III), aims to understand the genetic contribution to blood donor RBC characteristics." . _:112f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10155195/unicode"; rdfs:comment "The Brazil SCD Cohort Study is part of the National Institutes of Health, National Heart Lung and Blood Institute (NHLBI) REDS-III program." . _:11302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24188564+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The international component consists of distinct programs in Brazil, China, and South Africa, which involve US and in-country investigators." . _:11312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270269"; "Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci."; "PMID:36602125", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10155195/unicode"; rdfs:comment "This was conducted within the Brazil Sickle Cell Disease Cohort Study as part of the Recipient Epidemiology Donor Evaluation Study III (REDS-III)." . _:11322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A seven-year multicentre transfusion-medicine research programme launched in 2011 by the US National Heart, Lung, and Blood Institute, with a domestic component of four blood centres and 12 hospitals and international programmes in Brazil, China and South Africa, which built linked donor, donation and transfusion-recipient databases and ran more than 25 focused studies of blood donors and recipients, such as RBC-Omics and the Brazil sickle cell disease cohort."; "PMID:24188564"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REDS-III"; . a owl:NamedIndividual, ; , ; , ; , ; ; "GCST90271628"; "A research resource developed by the Kaiser Permanente Northern California Division of Research from consenting members of the KPNC health plan, linking surveys, biospecimens and electronic health records and including the Genetic Epidemiology Research on Adult Health and Aging cohort and a pregnancy cohort, for research on the genetic and environmental determinants of common, age-related complex health conditions."; 200000; "Kaiser Permanente Northern California Research Program on Genes, Environment and Health", "Kaiser Permanente Research Program on Genes, Environment, and Health", "RPEGH", "RPGEH", "Research Program in Genes, Environment and Health", "Research Program on Genes, Environment, and Health"; ; rdfs:label "Research Program on Genes, Environment and Health"@en . _:11342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7939422/fullTextXML"; rdfs:comment "The GERA cohort is part of the Kaiser Permanente Northern California (KPNC) Research Program on Genes, Environment and Health (RPGEH)." . _:11352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8876075/fullTextXML"; rdfs:comment "Launched in May 2016, the KPRB is built on an existing repository (Research Program on Genes, Environment and Health, or RPGEH) of approximately 220,000 KP members with data and biospecimens collected primarily between 2007 and 2011 from members of KP Northern California, and to a smaller extent, Southern California [6]." . _:11362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271628"; "Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus."; "PMID:36864135", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41562-023-01528-6/MediaObjects/41562_2023_1528_MOESM1_ESM.pdf"; rdfs:comment "Data used in this study were provided by the Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH): Genetic Epidemiology Research on Adult Health and Aging (GERA)" . _:11372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research resource developed by the Kaiser Permanente Northern California Division of Research from consenting members of the KPNC health plan, linking surveys, biospecimens and electronic health records and including the Genetic Epidemiology Research on Adult Health and Aging cohort and a pregnancy cohort, for research on the genetic and environmental determinants of common, age-related complex health conditions."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340790/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7939422/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200000; "participants with broad consent and a saliva or blood sample (approximate)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000674.v3.p3"; rdfs:comment "The RPGEH cohort includes about 400,000 survey participants of whom about 200,000 have provided broad consent and a sample of saliva or blood for use in studies of genetic and environmental factors in health and disease." . _:11392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RPEGH"; . _:113a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RPGEH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4169; , , , , , ; "GCST90091134"; "A genetic epidemiology study of type 2 diabetes begun in 1997 as a collaboration of West African and US investigators, enrolling affected sib-pairs with type 2 diabetes and unaffected controls in Ghana and Nigeria and later participants in Eldoret, Kenya, to map type 2 diabetes susceptibility genes in the West African ancestral populations of African Americans."; 2784; 3209; 5993; "AADM", "AADM study", "Africa America Diabetes Mellitus"; ; rdfs:label "Africa America Diabetes Mellitus Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4169 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:113b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4169; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8499470/fullTextXML"; rdfs:comment "Half of AF participants had T2D due to the T2D case-control study design of AADM, which was also reflected in the mean BMI being higher than expected for the general population of the countries sampled." . _:113c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8499470/fullTextXML"; rdfs:comment "Data were collected in three cities in Nigeria (Ibadan, Enugu, and Lagos), two cities in Ghana (Accra, and Kumasi), and in the city of Eldoret in Kenya." . _:113d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091134"; "Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits."; "PMID:34620218", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34620218%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed genome-wide association studies (GWAS) in 4432 continental Africans, enrolled from Ghana, Kenya, and Nigeria as part of the Africa America Diabetes Mellitus (AADM) study" . _:113e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic epidemiology study of type 2 diabetes begun in 1997 as a collaboration of West African and US investigators, enrolling affected sib-pairs with type 2 diabetes and unaffected controls in Ghana and Nigeria and later participants in Eldoret, Kenya, to map type 2 diabetes susceptibility genes in the West African ancestral populations of African Americans."; "PMID:11164120", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8499470/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:113f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2784; "T2D cases and controls studied (analysed set of participants enrolled 2000-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6890980/fullTextXML"; rdfs:comment "We studied 5993 individuals ( Table 1 ) including 2784 T2D cases (39% men) who had a mean age of 56 (SD 11) years and median known duration of T2D of 5 (IQR 2–10) years." . _:11402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3209; "T2D cases and controls studied (analysed set of participants enrolled 2000-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6890980/fullTextXML"; rdfs:comment "We studied 5993 individuals ( Table 1 ) including 2784 T2D cases (39% men) who had a mean age of 56 (SD 11) years and median known duration of T2D of 5 (IQR 2–10) years." . _:11412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5993; "T2D cases and controls studied (analysed set of participants enrolled 2000-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6890980/fullTextXML"; rdfs:comment "We studied 5993 individuals ( Table 1 ) including 2784 T2D cases (39% men) who had a mean age of 56 (SD 11) years and median known duration of T2D of 5 (IQR 2–10) years." . _:11422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AADM"; . a owl:NamedIndividual, ; , ; "GCST90319314"; "An ongoing nationwide prospective cohort of blood donors aged 18-70 at inclusion, recruited at Danish blood donation facilities since 2010 (all facilities in Denmark by 2015), with questionnaires, plasma samples, genotyping and linkage to national health registries for research on donor health and general public health."; 138491; "DBDS", "DBDS Genomic Cohort"; ; rdfs:label "Danish Blood Donor Study"@en . _:11432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244044/fullTextXML"; rdfs:comment "The cohort was initiated in 2010 and by 2015 it covered all blood donation facilities in Denmark." . _:11442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319314"; "A genome-wide association study of social trust in 33,882 Danish blood donors."; "PMID:38228779", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10792163/fullTextXML"; rdfs:comment "In this study, we investigate the genetic underpinnings of social trust in n = 33,882 participants of the Danish Blood Donor Study (DBDS) using a validated questionnaire." . _:11452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing nationwide prospective cohort of blood donors aged 18-70 at inclusion, recruited at Danish blood donation facilities since 2010 (all facilities in Denmark by 2015), with questionnaires, plasma samples, genotyping and linkage to national health registries for research on donor health and general public health."; "PMID:36194120"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 138491; "participants included by February 2022"; "https://europepmc.org/api/getPdf?pmcid=PMC10244044"; rdfs:comment "As of February 2022, DBDS includes 138491 participants (51% women, age span at inclusion 18–70 years) who have completed a total of 371589 questionnaires and with 1091499 person-years of follow-up." . _:11472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DBDS"; . a owl:NamedIndividual, ; , ; , ; "GCST90091134"; "A population-based family study of African Americans from the Washington, DC metropolitan area, enrolling randomly ascertained families and unrelated individuals through Howard University without selection on any phenotype, to study the genetic and environmental basis of common complex diseases including hypertension, obesity and type 2 diabetes."; 1976; "HUFS"; ; rdfs:label "Howard University Family Study"@en . _:11482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8499470/fullTextXML"; rdfs:comment "The HUFS (Principal Investigator: CNR) was a study of AA from the Washington DC metropolitan area (USA) and was designed to investigate the genetic and environmental basis of common complex traits such as hypertension, obesity, and T2D [32]." . _:11492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091134"; "Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits."; "PMID:34620218", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8499470/fullTextXML"; rdfs:comment "Replication analyses were performed using data on 7990 AA from five different cohorts: the Howard University Family Study (HUFS) [32]" . _:114a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based family study of African Americans from the Washington, DC metropolitan area, enrolling randomly ascertained families and unrelated individuals through Howard University without selection on any phenotype, to study the genetic and environmental basis of common complex diseases including hypertension, obesity and type 2 diabetes."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2702100/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8499470/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:114b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1976; "analysed subset: genotyped participants (pedigree members and unrelated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4684912/fullTextXML"; rdfs:comment "Methods We analyzed 1,976 African Americans from Washington, D.C, including 1,322 individuals from 328 pedigrees and 654 unrelated individuals, enrolled in the Howard University Family Study." . _:114c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4188; ; "GCST90274758"; "An international randomized, placebo-controlled trial of darapladib, a lipoprotein-associated phospholipase A2 inhibitor, in 15,828 patients with chronic coronary heart disease recruited at 663 centers in 39 countries from December 2008 to April 2010 and sponsored by GlaxoSmithKline, whose baseline plasma biobank has been used for biomarker, proteomic and genetic studies of cardiovascular outcomes."; 15828; "STABILITY", "STABILITY trial", "STabilization of Atherosclerotic plaque By Initiation of darapLadIb TherapY"; ; rdfs:label "Stabilization of Atherosclerotic Plaque by Initiation of Darapladib Therapy Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4188 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:114d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4188; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24678955+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a double-blind trial, we randomly assigned 15,828 patients with stable coronary heart disease to receive either once-daily darapladib (at a dose of 160 mg) or placebo." . _:114e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274758"; "Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets."; "PMID:37563310", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10457199/fullTextXML"; rdfs:comment "Funding of the GWASs and proteomics studies of STABILITY and ARISTOTLE were supported by GlaxoSmithKline, BristolMyersSquibb and the Swedish Foundation for Strategic Research" . _:114f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international randomized, placebo-controlled trial of darapladib, a lipoprotein-associated phospholipase A2 inhibitor, in 15,828 patients with chronic coronary heart disease recruited at 663 centers in 39 countries from December 2008 to April 2010 and sponsored by GlaxoSmithKline, whose baseline plasma biobank has been used for biomarker, proteomic and genetic studies of cardiovascular outcomes."; "PMID:24678955", "PMID:33439866"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15828; "patients randomised"; "PMID:24678955"; rdfs:comment "Darapladib is a selective oral inhibitor of lipoprotein-associated phospholipase A2.MethodsIn a double-blind trial, we randomly assigned 15,828 patients with stable coronary heart disease to receive either once-daily darapladib (at a dose of 160 mg) or placebo." . _:11512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STABILITY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4194, _:genid-371333f489424440b12a13b9d98ced822608-genid4196, _:genid-371333f489424440b12a13b9d98ced822608-genid4198, _:genid-371333f489424440b12a13b9d98ced822608-genid4200; , ; ; "GCST90274758"; "A prospective, longitudinal cohort, the first Swedish BioFINDER study (BioFINDER-1, NCT01208675), of cognitively unimpaired older adults and patients with mild cognitive impairment, dementias and parkinsonian disorders, recruited from 2009 to 2014 at three neurology and memory clinics in southern Sweden and followed for up to 10 years with cerebrospinal fluid, plasma, MRI, amyloid PET and genetic data to develop early and accurate diagnosis of Alzheimer disease, Parkinson disease and related disorders. It is distinct from the later, independent BioFINDER-2 study (NCT03174938), launched in 2017."; 1600; "BioFINDER", "BioFINDER One", "BioFINDER-1", "Biomarkers For Identifying Neurodegenerative Disorders Early and Reliably", "Swedish BioFinder"; ; rdfs:label "Swedish BioFINDER Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4194 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4196 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4198 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4200 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4194; "dementia"; "https://biofinder.se/one/"; rdfs:comment "We initiated the Swedish BioFINDER (Biomarkers For Identifying Neurodegenerative Disorders Early and Reliably; NCT01208675) study in 2009 to learn more about the underlying etiologies of Alzgeimer’s and Parkinson’s diseases and related disorder." . _:11532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4196; "Alzheimer's disease"; "https://biofinder.se/one/"; rdfs:comment "We initiated the Swedish BioFINDER (Biomarkers For Identifying Neurodegenerative Disorders Early and Reliably; NCT01208675) study in 2009 to learn more about the underlying etiologies of Alzgeimer’s and Parkinson’s diseases and related disorder." . _:11542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4198; "Parkinson's disease"; "https://biofinder.se/one/"; rdfs:comment "We initiated the Swedish BioFINDER (Biomarkers For Identifying Neurodegenerative Disorders Early and Reliably; NCT01208675) study in 2009 to learn more about the underlying etiologies of Alzgeimer’s and Parkinson’s diseases and related disorder." . _:11552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4200; "parkinsonian disorders"; "https://biofinder.se/one/"; rdfs:comment "We initiated the Swedish BioFINDER (Biomarkers For Identifying Neurodegenerative Disorders Early and Reliably; NCT01208675) study in 2009 to learn more about the underlying etiologies of Alzgeimer’s and Parkinson’s diseases and related disorder." . _:11562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9832827/fullTextXML"; rdfs:comment "Participants were recruited in the prospective and longitudinal BioFINDER study (NCT01208675) from 2009 to 2014, at three neurology and memory clinics in southern Sweden." . _:11572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274758"; "Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets."; "PMID:37563310", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41590-023-01588-w/MediaObjects/41590_2023_1588_MOESM5_ESM.xlsx"; rdfs:comment "Biomarkers For Identifying Neurodegenerative Disorders Early and Reliably" . _:11582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, longitudinal cohort, the first Swedish BioFINDER study (BioFINDER-1, NCT01208675), of cognitively unimpaired older adults and patients with mild cognitive impairment, dementias and parkinsonian disorders, recruited from 2009 to 2014 at three neurology and memory clinics in southern Sweden and followed for up to 10 years with cerebrospinal fluid, plasma, MRI, amyloid PET and genetic data to develop early and accurate diagnosis of Alzheimer disease, Parkinson disease and related disorders. It is distinct from the later, independent BioFINDER-2 study (NCT03174938), launched in 2017."; "PMID:36504281", "https://biofinder.se/one/", "https://biofinder.se/two/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1600; "participants enrolled 2009-2014 (stated as 'more than 1600', a lower bound)"; "https://biofinder.se/one/"; rdfs:comment "More than 1600 patients with mild cognitive symptoms, dementia and parkinsonian symptoms as well as cognitively healthy elderly was enrolled in the study with longitudnal follow-up up to 10 years." . _:115a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioFINDER"; . _:115b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioFINDER-1"; . _:115c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Swedish BioFinder"; . a owl:NamedIndividual, ; , ; , , , , ; "GCST90274758"; "A population-based cohort of 1,008 adult Croatians aged 18-93 from the isolated villages of Vis and Komiza on the Dalmatian island of Vis, Croatia, recruited in 2003 and 2004, genotyped and richly phenotyped for genetic studies of complex traits in an isolated population."; 1008; "CROATIA-VIS", "CROATIA-Vis", "VIS", "Vis Island Study (Croatia)", "Vis Study"; ; rdfs:label "CROATIA-Vis Study"@en . _:115d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7337286/fullTextXML"; rdfs:comment "The CROATIA-Vis study includes 1,008 Croatians, aged 18–93 years, who were recruited from the villages of Vis and Komiza on the Dalmatian island of Vis during spring of 2003 and 2004." . _:115e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274758"; "Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets."; "PMID:37563310", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10457199/fullTextXML"; rdfs:comment "The CROATIA-Vis study was funded by grants from the UK MRC, the Republic of Croatia Ministry of Science, Education and Sports (grant nos. 108-1080315-0302 and 216-1080315-0302) and the Croatian Science Foundation (grant no. 8875)." . _:115f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 1,008 adult Croatians aged 18-93 from the isolated villages of Vis and Komiza on the Dalmatian island of Vis, Croatia, recruited in 2003 and 2004, genotyped and richly phenotyped for genetic studies of complex traits in an isolated population."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7337286/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1008; "adults recruited 2003-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7337286/fullTextXML"; rdfs:comment "The CROATIA-Vis study includes 1,008 Croatians, aged 18–93 years, who were recruited from the villages of Vis and Komiza on the Dalmatian island of Vis during spring of 2003 and 2004." . _:11612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CROATIA-VIS"; . _:11622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CROATIA-Vis"; . _:11632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4216, _:genid-371333f489424440b12a13b9d98ced822608-genid4218; , , ; , ; , ; "GCST90276157"; "A US data resource, founded in 1999 and funded by the National Institute on Aging, that combines the standardized longitudinal clinical (Uniform Data Set), neuropathology, imaging, biomarker and genetic data of participants of the NIA-funded Alzheimer's Disease Research Centers, more than 56,000 people from over 42 centers, for research on Alzheimer disease and related dementias."; "The acronym ADC also denotes Amsterdam Dementia Cohort (COHO:0000374); this term is National Alzheimer's Coordinating Center."@en; 56000; "ADC", "NAAC", "NACC"; ; rdfs:label "National Alzheimer's Coordinating Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4216 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4218 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4216; "dementia"; "https://naccdata.org/"; rdfs:comment "NACC is home to one of the largest, oldest, and most powerful Alzheimer’s disease datasets, built in collaboration with more than 42 Alzheimer’s Disease Research Centers (ADRCs) throughout the US over the past 25+ years." . _:11652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4218; "Alzheimer's disease"; "https://naccdata.org/"; rdfs:comment "NACC is home to one of the largest, oldest, and most powerful Alzheimer’s disease datasets, built in collaboration with more than 42 Alzheimer’s Disease Research Centers (ADRCs) throughout the US over the past 25+ years." . _:11662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nia.nih.gov/health/clinical-trials-and-studies/alzheimers-disease-research-centers"; rdfs:comment "Knight Alzheimer's Disease Research Center" . _:11672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nia.nih.gov/health/clinical-trials-and-studies/alzheimers-disease-research-centers"; rdfs:comment "Stanford Alzheimer’s Disease Research Center" . _:11682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nia.nih.gov/health/clinical-trials-and-studies/alzheimers-disease-research-centers"; rdfs:comment "Wisconsin Alzheimer's Disease Research Center" . _:11692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://naccdata.org/"; rdfs:comment "NACC is home to one of the largest, oldest, and most powerful Alzheimer’s disease datasets, built in collaboration with more than 42 Alzheimer’s Disease Research Centers (ADRCs) throughout the US over the past 25+ years." . _:116a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90276157"; "APOE-ε4 and BIN1 increase risk of Alzheimer's disease pathology but not specifically of Lewy body pathology."; "PMID:37700353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10496176/fullTextXML"; rdfs:comment "We analyzed data from individuals from the National Alzheimer’s Coordinating Center (NACC) and Rush University Medical Center databases who were evaluated postmortem for both AD and LB pathology." . _:116b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A US data resource, founded in 1999 and funded by the National Institute on Aging, that combines the standardized longitudinal clinical (Uniform Data Set), neuropathology, imaging, biomarker and genetic data of participants of the NIA-funded Alzheimer's Disease Research Centers, more than 56,000 people from over 42 centers, for research on Alzheimer disease and related dementias."; "PMID:41122833", "https://naccdata.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:116c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 56000; "participants with data at NACC (stated as '56,000+', a lower bound), 2026"; "https://naccdata.org/"; rdfs:comment "56,000+ Participants with Data at NACC (20,000+ active participants)" . _:116d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADC"; . _:116e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAAC"; . _:116f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NACC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4230, _:genid-371333f489424440b12a13b9d98ced822608-genid4232; , , ; ; ; "GCST90093191", "PGS005363"; "A population-based study of diabetes and cardiovascular disease in Singapore that re-visited, between 2003 and 2007, Chinese, Malay and Asian-Indian adults randomly sampled for four earlier cross-sectional studies (the Thyroid and Heart Study, the 1992 and 1998 National Health Surveys and the National University of Singapore Heart Study), with questionnaires and clinical examinations."; 7742; "SCCS2", "SP2", "Singapore Cardiovascular Cohort Study 2", "Singapore Prospective Study Programme"; , ; rdfs:label "Singapore Prospective Study Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4230 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4232 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4230; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8562625/supplementaryFiles"; rdfs:comment "SP2 (Singapore Prospective Study Program): The SP2 is a population-based study of diabetes and cardiovascular disease in Singapore." . _:11712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4232; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8562625/supplementaryFiles"; rdfs:comment "SP2 (Singapore Prospective Study Program): The SP2 is a population-based study of diabetes and cardiovascular disease in Singapore." . _:11722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6389173/fullTextXML"; rdfs:comment "Individuals in these studies were sampled randomly from the Singapore population and a disproportionate sampling scheme was utilized to increase the sample sizes of Malays and Asian-Indians." . _:11732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7731378/fullTextXML"; rdfs:comment "The MEC was formed by combining two existing cohorts: the Singapore Prospective Study Program (SP2) and the Singapore Cardiovascular Cohort Study (SCCS2)." . _:11742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093191"; "Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits."; "PMID:34734193", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8562625/supplementaryFiles"; rdfs:comment "SP2 (Singapore Prospective Study Program): The SP2 is a population-based study of diabetes and cardiovascular disease in Singapore." . _:11752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005363"; "Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries."; "PMID:40778152" . _:11762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of diabetes and cardiovascular disease in Singapore that re-visited, between 2003 and 2007, Chinese, Malay and Asian-Indian adults randomly sampled for four earlier cross-sectional studies (the Thyroid and Heart Study, the 1992 and 1998 National Health Surveys and the National University of Singapore Heart Study), with questionnaires and clinical examinations."; "PMID:29477148", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8562625/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7742; "participants who completed the questionnaire (2004-2007); 5157 also examined"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3504343/fullTextXML"; rdfs:comment "A total of 10 633 individuals were invited; 7742 subjects (response rate 74.1%) completed the health questionnaire, of which 5157 (66.6% of those who completed the questionnaire or 49.4% of all eligible subjects) also attended the health examination." . _:11782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCCS2"; . _:11792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SP2"; . a owl:NamedIndividual, ; , ; ; "GCST90627737"; "An electronic health record-linked biobank jointly developed by the University of Colorado Anschutz Medical Campus and UCHealth, enrolling adult UCHealth patients since September 2015 (more than 200,000 participants by 2022, mostly from the Rocky Mountain region), as a dual-purpose resource for genomic research and for returning clinical genetic results to participants."; 200673; "CCPM", "CCPM Biobank", "Colorado Center for Personalized Medicine"; ; rdfs:label "Colorado Center for Personalized Medicine Biobank"@en . _:117a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10806731/fullTextXML"; rdfs:comment "UCHealth serves both a highly urban population in the Denver, Colorado Springs, and Fort Collins metropolitan areas as well as numerous rural populations in the intermountain west and western great plains regions of the United States." . _:117b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90627737"; "Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases."; "PMID:41644669", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12900643/fullTextXML"; rdfs:comment "We explored the ability of PRS to identify people at risk for ThC (PRSThC versus All) in the Colorado Center for Personalized Medicine (CCPM) Biobank population (n = 94,651)." . _:117c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An electronic health record-linked biobank jointly developed by the University of Colorado Anschutz Medical Campus and UCHealth, enrolling adult UCHealth patients since September 2015 (more than 200,000 participants by 2022, mostly from the Rocky Mountain region), as a dual-purpose resource for genomic research and for returning clinical genetic results to participants."; "PMID:38181729", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10806731/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:117d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200673; "participants enrolled by March 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10806731/fullTextXML"; rdfs:comment "As of March 2022, 200,673 participants have enrolled in the CCPM Biobank and 103,600 have provided a blood (n = 100,542) or saliva (n = 3,058) sample (Figure 1)." . _:117e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCPM"; . _:117f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCPM Biobank"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4248; , ; , , ; "GCST90308732"; "A population-based prospective cohort of dementia-free adults aged 65 and older enrolled since 1994 from the membership of Kaiser Permanente Washington (formerly Group Health Cooperative) in the Seattle area, United States, and followed longitudinally to identify risk and preventive factors for dementia, with brain autopsy, genetic and abstracted medical-record data."; 5763; "ACT", "ACTS", "Adult Changes in Thought"; ; rdfs:label "Adult Changes in Thought Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4248 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4248; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11592130/fullTextXML"; rdfs:comment "The ACT study is an ongoing population-based prospective cohort study that began in 1994 [20,21,22] and aims to identify risk and preventive factors for dementia." . _:11812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11592130/fullTextXML"; rdfs:comment "Between 1994 and 1996, ACT enrolled 2581 GHC members living in the greater Seattle area who were 65 years of age or older, community dwelling, and did not have a diagnosis of dementia at baseline." . _:11822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308732"; "A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores."; "PMID:37349795", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10286470/fullTextXML"; rdfs:comment "This study included non-Hispanic white participants of the Framingham Heart Study (FHS), National Institute on Aging sponsored Alzheimer’s Disease Research Centers whose phenotypic information was assembled and curated by the National Alzheimer’s Coordinating Center (NACC), the Adult Changes in Thought (ACT) Study, the Alzheimer’s Disease Neuroimaging Initiative (ADNI), and the Religious Orders Study/Rush Memory and Aging Project (ROSMAP)." . _:11832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of dementia-free adults aged 65 and older enrolled since 1994 from the membership of Kaiser Permanente Washington (formerly Group Health Cooperative) in the Seattle area, United States, and followed longitudinally to identify risk and preventive factors for dementia, with brain autopsy, genetic and abstracted medical-record data."; "PMID:39595838"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5763; "cumulative enrolment to November 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11592130/fullTextXML"; rdfs:comment "As of the most recent data freeze (25 November 2022), total cumulative enrollment in the ACT study was 5763 people with 49,422 person-years of follow-up (mean 8.6, SD = 6.1 years per person)." . _:11852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACT"; . _:11862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACTS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4256; , ; , ; "GCST90093118"; "A family study of the NHLBI Family Blood Pressure Program that from 1995 to 2000 recruited African American and white sibships with two or more members with hypertension diagnosed before age 60, with their untreated adult offspring and random population samples, at centres in Birmingham (Alabama), Forsyth County (North Carolina), Framingham (Massachusetts), Minneapolis (Minnesota) and Salt Lake City (Utah), to identify genes promoting hypertension."; 2407; "Family Blood Pressure Program-HyperGEN", "HYPERGEN", "HyperGEN", "HyperGEN Study", "HyperGen"; ; rdfs:label "Hypertension Genetic Epidemiology Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4256 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4256; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "HyperGEN recruited African American and White hypertensive sibships with 2 or more hypertensive sibs, at least 1 of them having severe HT." . _:11882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "HyperGEN (Hypertension Genetic Epidemiology Network) included field centers in Birmingham AL, which recruited African Americans; the rest of centers in Forsyth County, NC, in Framingham, MA, in Minneapolis, MN, and in Salt Lake City, UT recruited Whites." . _:11892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093118"; "Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population."; "PMID:33679876", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33679876%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "among 1,364 participants of African ancestry (AAs) in the Hypertension Genetic Epidemiology Network (HyperGEN)" . _:118a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of the NHLBI Family Blood Pressure Program that from 1995 to 2000 recruited African American and white sibships with two or more members with hypertension diagnosed before age 60, with their untreated adult offspring and random population samples, at centres in Birmingham (Alabama), Forsyth County (North Carolina), Framingham (Massachusetts), Minneapolis (Minnesota) and Salt Lake City (Utah), to identify genes promoting hypertension."; "PMID:10964005", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7933688/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:118b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2407; "hypertensive siblings examined 1995-2000 (sibship component only; offspring and random samples not included)"; "PMID:10964005"; rdfs:comment "The projected sample size of 2244 hypertensive participants was surpassed, as 2407 hypertensive individuals (1262 African-Americans and 1145 whites) from 917 sibships were examined." . _:118c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HYPERGEN"; . _:118d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HyperGEN"; . _:118e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HyperGen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4265, _:genid-371333f489424440b12a13b9d98ced822608-genid4267, _:genid-371333f489424440b12a13b9d98ced822608-genid4269, _:genid-371333f489424440b12a13b9d98ced822608-genid4271; ; , ; , , , , , ; "GCST90102456", "PGS000148"; "A multicentre randomized cancer screening trial of about 155,000 men and women aged 55–74, enrolled from 1993 to 2001 at ten screening centres across the United States under the National Cancer Institute, testing whether screening reduces mortality from prostate, lung, colorectal and ovarian cancer, with participants followed for cancer incidence and death."; 154887; "PICO", "PLCO", "PLCO Cancer Screening Trial", "Prostate, Lung, Colon and Ovarian Cancer Screening trial", "Prostate, Lung, Colon and Ovarian Trial", "Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial", "Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening", "Prostate, Lung, Colorectal, and Ovarian Cancer"; , , ; rdfs:label "Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid4265 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4267 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4269 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4271 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:118f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4265; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11189684+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objectives of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial are to determine in screenees ages 55-74 at entry whether screening with flexible sigmoidoscopy (60-cm sigmoidoscope) can reduce mortality from colorectal cancer, whether screening with chest X-ray can reduce mortality from lung cancer, whether screening men with digital rectal examination (DRE) plus serum prostate-specific antigen (PSA) can reduce mortality from prostate cancer" . _:11902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4267; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11189684+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objectives of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial are to determine in screenees ages 55-74 at entry whether screening with flexible sigmoidoscopy (60-cm sigmoidoscope) can reduce mortality from colorectal cancer, whether screening with chest X-ray can reduce mortality from lung cancer, whether screening men with digital rectal examination (DRE) plus serum prostate-specific antigen (PSA) can reduce mortality from prostate cancer" . _:11912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4269; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11189684+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objectives of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial are to determine in screenees ages 55-74 at entry whether screening with flexible sigmoidoscopy (60-cm sigmoidoscope) can reduce mortality from colorectal cancer, whether screening with chest X-ray can reduce mortality from lung cancer, whether screening men with digital rectal examination (DRE) plus serum prostate-specific antigen (PSA) can reduce mortality from prostate cancer" . _:11922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4271; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11189684+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objectives of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial are to determine in screenees ages 55-74 at entry whether screening with flexible sigmoidoscopy (60-cm sigmoidoscope) can reduce mortality from colorectal cancer, whether screening with chest X-ray can reduce mortality from lung cancer, whether screening men with digital rectal examination (DRE) plus serum prostate-specific antigen (PSA) can reduce mortality from prostate cancer" . _:11932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12520953/fullTextXML"; rdfs:comment "Firstly, our study data derived from a large prospective cohort comprising over 100,000 participants with diverse occupational backgrounds across 10 screening centers in the United States ensuring broad representativeness of the study population, and the long-term follow-up ensured the reliability of the study findings." . _:11942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102456"; "Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival."; "PMID:34996992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8741984/fullTextXML"; rdfs:comment "PLCO Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial" . _:11952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000148"; "Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors."; "PMID:29458155" . _:11962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomized cancer screening trial of about 155,000 men and women aged 55–74, enrolled from 1993 to 2001 at ten screening centres across the United States under the National Cancer Institute, testing whether screening reduces mortality from prostate, lung, colorectal and ovarian cancer, with participants followed for cancer incidence and death."; "PMID:11189684", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12520953/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 154887; "participants enrolled (as stated in a secondary analysis)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12520953/fullTextXML"; rdfs:comment "Initially, 154,887 participants enrolled." . _:11982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PICO"; . _:11992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLCO"; . a owl:NamedIndividual, ; , , ; ; "GCST90662856", "PGS002742"; "A prospective population-based biobank cohort of 156,701 Korean adults aged 20–85 recruited in 2004–2013 at 18 health promotion centres across Korea during routine health examinations, genotyped and followed through national mortality, cancer registry and health insurance records, to study cancer, cardiovascular and other chronic diseases and their metabolic risk factors."; 156701; "KCPS", "KCPS-II", "KCPS-II Biobank", "KCPS2", "KMSRI", "Korean Cancer Prevention Study (KCPS-II Biobank)", "Korean Cancer Prevention Study-II", "Korean Cancer Prevention Study-II (KCPS-II) Biobank", "Korean Metabolic Syndrome Research Initiative"; , , ; rdfs:label "Korean Cancer Prevention Study-II Biobank"@en . _:119a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12120081/fullTextXML"; rdfs:comment "Approximately 90% of participants were recruited from the Seoul and Gyeonggi regions, where about 40% of the South Korean population resides (around 19 million people)." . _:119b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90662856"; "Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures."; "PMID:40436827", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12120081/fullTextXML"; rdfs:comment "Here we conducted GWAS for 36 quantitative traits from 153,950 individuals in the Korean Cancer Prevention Study-II (KCPS-II) Biobank22, a prospective cohort study of the Korean population with genomic data and a wide range of measured phenotypes." . _:119c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002742"; "Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians."; "PMID:35765848" . _:119d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based biobank cohort of 156,701 Korean adults aged 20–85 recruited in 2004–2013 at 18 health promotion centres across Korea during routine health examinations, genotyped and followed through national mortality, cancer registry and health insurance records, to study cancer, cardiovascular and other chronic diseases and their metabolic risk factors."; "PMID:40744823"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:119e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 156701; "participants recruited at baseline 2004-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12673288/fullTextXML"; rdfs:comment "The cohort includes data from 156,701 participants (94,840 men and 61,861 women) recruited from 18 health promotion centers throughout Korea (Supplementary Material 1)." . _:119f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCPS"; . _:11a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCPS-II"; . _:11a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCPS-II Biobank"; . _:11a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCPS2"; . _:11a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KMSRI"; . _:11a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Korean Cancer Prevention Study (KCPS-II Biobank)"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4291, _:genid-371333f489424440b12a13b9d98ced822608-genid4293; , ; "GCST90094671"; "A hospital-based cohort of patients with suspected stable coronary artery disease, acute myocardial infarction or known left main coronary artery disease undergoing coronary angiography at the Heart Center Leipzig, Germany, recruited from December 2006 by Leipzig University and its Leipzig Research Center for Civilization Diseases (LIFE) as a biobank and database for studying clinical, metabolic, cellular and genetic factors of atherosclerosis and coronary artery disease."; 6994; "LIFE-HEART", "LIFE-Heart", "Leipzig (LIFE) Heart Study", "Leipzig Research Center for Civilization Diseases - Heart Study"; ; rdfs:label "Leipzig Research Center for Civilization Diseases-Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4291 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4293 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4291; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8624973/fullTextXML"; rdfs:comment "LIFE-Heart is a cohort of patients with suspected or confirmed coronary artery disease or myocardial infarction [23]." . _:11a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4293; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8624973/fullTextXML"; rdfs:comment "LIFE-Heart is a cohort of patients with suspected or confirmed coronary artery disease or myocardial infarction [23]." . _:11a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8624973/fullTextXML"; rdfs:comment "Patients were recruited at the Heart Center Leipzig, Germany, and all underwent coronary angiography." . _:11a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094671"; "Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study."; "PMID:34822396", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8624973/fullTextXML"; rdfs:comment "LIFE-Heart is a cohort of patients with suspected or confirmed coronary artery disease or myocardial infarction [23]." . _:11a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of patients with suspected stable coronary artery disease, acute myocardial infarction or known left main coronary artery disease undergoing coronary angiography at the Heart Center Leipzig, Germany, recruited from December 2006 by Leipzig University and its Leipzig Research Center for Civilization Diseases (LIFE) as a biobank and database for studying clinical, metabolic, cellular and genetic factors of atherosclerosis and coronary artery disease."; "PMID:22216169", "PMID:34822396"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6994; "patients recruited 2006-2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12626291/fullTextXML"; rdfs:comment "A total of 6,994 patients were recruited with suspected or confirmed stable coronary artery disease (CAD) or myocardial infarction." . _:11ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIFE-HEART"; . _:11ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIFE-Heart"; . a owl:NamedIndividual, ; , , ; ; "GCST90102551"; "A health and demographic surveillance and research platform in Guinea-Bissau, run by the Bandim Health Project with Statens Serum Institut, that has followed women and children in an urban surveillance system in the capital, Bissau, since 1978 and in a nationally representative rural surveillance system of 182 clusters since 1989-1990, to study health interventions, child mortality and the non-specific effects of vaccines. Randomised trials are run within it, such as the 2008-2013 trial of early BCG vaccination in low-birth-weight newborns in Bissau."; 100000; "BHP"; , ; rdfs:label "Bandim Health Project"@en; rdfs:seeAlso . _:11ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6575866/fullTextXML"; rdfs:comment "Bandim Health Project (BHP) monitors health and survival of women and children in a nationally representative rural Health and Demographic Surveillance System (HDSS) in Guinea-Bissau." . _:11ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102551"; "Genetic regulators of cytokine responses upon BCG vaccination in children from West Africa."; "PMID:36681271", "https://www.researchsquare.com/article/rs-1502935/latest.pdf"; rdfs:comment "This study was performed in a cohort of newborns in Guinea-Bissau, West Africa, part of the Bandim Health Project (BHP)" . _:11af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A health and demographic surveillance and research platform in Guinea-Bissau, run by the Bandim Health Project with Statens Serum Institut, that has followed women and children in an urban surveillance system in the capital, Bissau, since 1978 and in a nationally representative rural surveillance system of 182 clusters since 1989-1990, to study health interventions, child mortality and the non-specific effects of vaccines. Randomised trials are run within it, such as the 2008-2013 trial of early BCG vaccination in low-birth-weight newborns in Bissau."; "PMID:25210141", "PMID:29579158", "PMID:31189684", "PMID:32114478"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100000; "inhabitants covered by the urban HDSS in Bissau (rural HDSS not included)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10946234/fullTextXML"; rdfs:comment "Bandim Health Project (BHP; www.bandim.org) maintains a Health and Demographic Surveillance System (HDSS) covering approximately 100 000 inhabitants in Bissau, the capital of Guinea-Bissau." . _:11b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHP"; . a owl:NamedIndividual, ; ; , ; , ; "GCST90503108"; "A paediatric biobank of the Center for Applied Genomics at Children's Hospital of Philadelphia, recruiting children at the hospital since 2006 with broad consent for research use of their samples and electronic health records (about 85,000 juvenile subjects of diverse ancestries by 2025), used for genome-wide and phenome-wide studies of childhood disease."; "The acronym CAG also denotes Chicago Asthma Genetics (COHO:0000036); this term is Center for Applied Genomics Biobank."@en, "The acronym CHOP also denotes Philadelphia Cohort (COHO:0002255); this term is Center for Applied Genomics Biobank."@en; 85000; "CAG", "CAG biobank", "CHOP", "CHOP biobank", "Center for Applied Genomics, Children's Hospital of Philadelphia", "Children's Hospital of Philadelphia", "Childrens Hospital of Philadelphia"; , ; rdfs:label "Center for Applied Genomics Biobank"@en . _:11b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11958703/fullTextXML"; rdfs:comment "Subjects were recruited at Children’s Hospital of Philadelphia starting in 2006 and continuing to the present; genotyping of subjects has occurred across the same timeline." . _:11b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90503108"; "Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis."; "PMID:40164604", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11958703/fullTextXML"; rdfs:comment "The cohort from the Center for Applied Genomics is composed of approximately 85,000 juvenile subjects below 18 years of age and of a diverse set of ancestries." . _:11b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A paediatric biobank of the Center for Applied Genomics at Children's Hospital of Philadelphia, recruiting children at the hospital since 2006 with broad consent for research use of their samples and electronic health records (about 85,000 juvenile subjects of diverse ancestries by 2025), used for genome-wide and phenome-wide studies of childhood disease."; "PMID:35690720", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11958703/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 85000; "juvenile subjects (under 18) in the CAG cohort (2025)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11958703/fullTextXML"; rdfs:comment "The cohort from the Center for Applied Genomics is composed of approximately 85,000 juvenile subjects below 18 years of age and of a diverse set of ancestries." . _:11b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAG"; . _:11b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHOP"; . _:11b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Center for Applied Genomics, Children's Hospital of Philadelphia"; . a owl:NamedIndividual, ; , ; , ; "GCST90105058"; "A nationwide population-based register of more than 175,000 Danish twins from birth cohorts 1870 to 2009, established in the 1950s, that combines repeated surveys, in-person assessments, a biobank and linkage to Danish national registers, for studies of genetic and environmental influences on health, disease and ageing."; 175518; "DTR"; ; rdfs:label "Danish Twin Registry"@en . _:11b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21775358+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "More than 85,000 twin pairs born 1870-2008 in Denmark." . _:11ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90105058"; "Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss."; "PMID:35580588", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9247887/fullTextXML"; rdfs:comment "the Danish Twin Registry (DTR; n = 1,314)" . _:11bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based register of more than 175,000 Danish twins from birth cohorts 1870 to 2009, established in the 1950s, that combines repeated surveys, in-person assessments, a biobank and linkage to Danish national registers, for studies of genetic and environmental influences on health, disease and ageing."; "PMID:23084092", "PMID:31544734"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 175518; "individuals in the register (twins, triplets, quadruplets born 1870-2009), 2019"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8039015/unicode"; rdfs:comment "By May 2019, the population in the DTR comprised of 175,518 individuals: 86,402 pairs of twins born from 1870 to 2009, and 874 sets of triplets and 23 sets of quadruplets born from 1931 to 2009." . _:11bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DTR"; . a owl:NamedIndividual, ; , , , , , , , , ; , ; , ; "GCST90025941"; "A National Human Genome Research Institute-funded consortium, established in 2007, of US academic and integrated health systems, each with its own biorepository linking DNA samples to electronic medical records, which pooled its sites' data into a network-wide genome-wide dataset of about 105,000 participants for genomic discovery and later sequenced about 25,000 participants to study the return of genomic results."; 105108; "EMERGE", "Electronic Medical Records and Genomics", "Electronic Medical Records and Genomics (eMERGE) network", "Medical Records and Genomics study", "eMERGE", "eMERGE Network", "electronic MEdical Records & GEnomics Network", "electronic MEdical Records and GEnomic network"; ; rdfs:label "Electronic Medical Records and Genomics Network"@en . _:11be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4810384/fullTextXML"; rdfs:comment "To facilitate genomic research and participation in eMERGE, the Biobank undertook a plan to conduct genomewide genotyping of 25,000 samples." . _:11bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3038887/fullTextXML"; rdfs:comment "The eMERGE type 2 diabetes GWAS population is comprised of samples from NUgene and BioVU at Vanderbilt University" . _:11c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3795928/fullTextXML"; rdfs:comment "The Mount Sinai BioMe Biobank Program is supported by the Andrea and Charles Bronfman Philanthropies." . _:11c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5872076/fullTextXML"; rdfs:comment "The Geisinger eMERGE III study involves a subset of participants that are enrolled in the systemwide biobank, MyCodeTM Community Health Initiative (MyCode CHI) who have been consented for re-contact regarding research opportunities and opted to receive research results." . _:11c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3038887/fullTextXML"; rdfs:comment "Group Health's primary phenotype of interest is Alzheimer's Disease (AD) using dementia cases and controls within the GH biorepository, based on gold-standard research diagnoses. A 2-stage screening process was used to identify cases in ACT." . _:11c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3795928/fullTextXML"; rdfs:comment "In August 2012, following a request for applications22 for pediatric sites, eMERGE membership was extended to Children's Hospital of Philadelphia and a joint membership for Cincinnati Children's Hospital and Boston Children's Hospital (Figure 1)." . _:11c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7033893/fullTextXML"; rdfs:comment "Through its participation in the eMERGE consortium,15, 16 the NUgene biobank selected 900 participants for WGS." . _:11c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10191288/fullTextXML"; rdfs:comment "(b) The structured data-driven phenotyping algorithm was used in two eMERGE sites (Marshfield, Mount Sinai)." . _:11c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001584/phs001584.v2.p2/GapExchange_phs001584.v2.p2.xml"; rdfs:comment "KPWA participants were enrolled in the eMERGE Network through the Northwest Institute of Genetic Medicine (NWIGM) biorepository, and provided the appropriate consent to receive clinically relevant genetic results (N~8,073.) NWIGM is based at the University of Washington and co-managed by the University of Washington and KPWA." . _:11c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35216901+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The goal of Electronic Medical Records and Genomics (eMERGE) Phase III Network was to return actionable sequence variants to 25,084 consenting participants from 10 different health care institutions across the United States." . _:11c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90025941"; "A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts."; "PMID:34140684", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34140684+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We devised a comprehensive three-phase framework to identify new lipid-associated genes and study the relationships among lipids, genotypes, gene expression and hundreds of complex human diseases from the Electronic Medical Records and Genomics (347 traits) and the UK Biobank (549 traits)." . _:11c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A National Human Genome Research Institute-funded consortium, established in 2007, of US academic and integrated health systems, each with its own biorepository linking DNA samples to electronic medical records, which pooled its sites' data into a network-wide genome-wide dataset of about 105,000 participants for genomic discovery and later sequenced about 25,000 participants to study the return of genomic results."; "PMID:23743551", "PMID:35047833"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 105108; "participants in the pooled network-wide HRC-imputed GWAS dataset (phase III)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8756524/fullTextXML"; rdfs:comment "The array data were imputed and merged at each phase, and the latest effort utilized the Michigan Imputation Server and HRC version 1.1, thus allowing the aggregation of data from 105,108 eMERGE participants for ∼40 million variants, both common and rare." . _:11cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMERGE"; . _:11cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "eMERGE"; . a owl:NamedIndividual, ; , ; ; "GCST90840657"; "A volunteer-based cohort of about 1,000 adults from the self-contained population of Sorbs in eastern Germany, recruited and extensively metabolically phenotyped by the University of Leipzig in 2005–2007 for genome-wide studies of metabolic, anthropometric and other quantitative traits."; 1000; "SORBS", "Sorbs", "Sorbs cohort", "Sorbs population"; ; rdfs:label "Sorbs Study"@en . _:11cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19729412+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We attempted to identify further variants associated with adult height in a self-contained population (the Sorbs in Eastern Germany) as discovery set." . _:11ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90840657"; "Genetic dissection of serum pro-neurotensin suggests potential causal impact on brain structure."; "PMID:41520650", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12818281/fullTextXML"; rdfs:comment "Four independent cross-sectional studies have been included in the present genetic meta-analysis, namely MDC,11,12 MOS,13 LIFE-Adult and the Sorbs cohort." . _:11cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A volunteer-based cohort of about 1,000 adults from the self-contained population of Sorbs in eastern Germany, recruited and extensively metabolically phenotyped by the University of Leipzig in 2005–2007 for genome-wide studies of metabolic, anthropometric and other quantitative traits."; "PMID:19729412", "PMID:41520650"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "Sorbian individuals enrolled (approximate), 2009"; "https://europepmc.org/api/getPdf?pmcid=PMC2773272"; rdfs:comment "At present, about 1000 Sorbian individuals are enrolled in the study." . _:11d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SORBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4338, _:genid-371333f489424440b12a13b9d98ced822608-genid4340; , ; "GCST007858", "PMID:33742194"; "A four-year randomised controlled trial of resistance and aerobic exercise and dietary interventions in a population-based random sample of men and women aged 55-74 years living in Kuopio, Finland, drawn from the national population registry, of whom 1,479 attended baseline examinations in 2005-2006, to study the health effects of regular physical exercise and a healthy diet in middle-aged and older people."; 1410; "DR's EXTRA", "DR's EXTRA study", "DRS EXTRA", "DRS_EXTRA", "Dose-Responses to Exercise Training study"; ; rdfs:label "Dose-Responses to Exercise Training"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4338 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4340 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4338; "regular physical exercise"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8244125/fullTextXML"; rdfs:comment "The Dose-Responses to Exercise Training (DR's EXTRA) study is a 4-y RCT on the health effects of regular physical exercise and a healthy diet in a population-based random sample of Finnish men and women aged 55–74 y living in the city of Kuopio in 2002 (see Supplemental Figure 1)." . _:11d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4340; "healthy diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8244125/fullTextXML"; rdfs:comment "The Dose-Responses to Exercise Training (DR's EXTRA) study is a 4-y RCT on the health effects of regular physical exercise and a healthy diet in a population-based random sample of Finnish men and women aged 55–74 y living in the city of Kuopio in 2002 (see Supplemental Figure 1)." . _:11d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26104270%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "in a population-based random sample (n 1140 women and men, age 57-78 years) as secondary analyses of the Finnish Dose-Responses to Exercise Training study." . _:11d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST007858"; "Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus."; "PMID:25625282", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4307976/"; rdfs:comment "We used a subset of Finnish samples (FIN-D2D 2007, DPS, DR’s EXTRA, FINRISK 2007, and METSIM; n = 10,266) to calculate variance explained by G6PC2." . _:11d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33742194"; "Exercise, diet, and cognition in a 4-year randomized controlled trial: Dose-Responses to Exercise Training (DR's EXTRA)."; "PMID:33742194", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33742194%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Dose-Responses to Exercise Training (DR's EXTRA)" . _:11d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A four-year randomised controlled trial of resistance and aerobic exercise and dietary interventions in a population-based random sample of men and women aged 55-74 years living in Kuopio, Finland, drawn from the national population registry, of whom 1,479 attended baseline examinations in 2005-2006, to study the health effects of regular physical exercise and a healthy diet in middle-aged and older people."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8244125/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1410; "individuals randomised to the six study groups (2006)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8244125/fullTextXML"; rdfs:comment "After these exclusions, 1410 individuals aged 57–78 y at baseline in 2005–2006 were randomly assigned to the resistance exercise, aerobic exercise, diet, combined resistance exercise and diet, combined aerobic exercise and diet, or control group." . _:11d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DR's EXTRA"; . _:11da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DRS EXTRA"; . _:11db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DRS_EXTRA"; . a owl:NamedIndividual, ; , ; ; "GCST90095479"; "A family intervention study of the NHLBI Programs in Gene by Environment Interaction, of 1,048 white participants in 184 three-generation pedigrees previously screened at the Minnesota and Utah centres of the NHLBI Family Heart Study, who took a standardised high-fat meal challenge and three weeks of fenofibrate treatment, to study genetic determinants of the lipid response to diet and lipid-lowering drugs."; 1048; "GOLDN", "GOLDN study", "Genetics of Lipid Lowering Drugs and Diet Network", "Genetics of Lipid Lowering Drugs and Diet Network study", "Genetics of Lipid-Lowering Drugs and Diet Network study"; ; rdfs:label "Genetics of Lipid-Lowering Drugs and Diet Network"@en . _:11dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8617762/fullTextXML"; rdfs:comment "GOLDN participants were identified through 3-generation families previously screened in the NHLBI Family Heart Study Minnesota or Utah centers [33]." . _:11dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8617762/fullTextXML"; rdfs:comment "GOLDN participants were identified through 3-generation families previously screened in the NHLBI Family Heart Study Minnesota or Utah centers [33]." . _:11de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095479"; "Genomics of Postprandial Lipidomics in the Genetics of Lipid-Lowering Drugs and Diet Network Study."; "PMID:34836252", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34836252%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "in 668 participants from the Genetics of Lipid-Lowering Drugs and Diet Network study (GOLDN)" . _:11df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family intervention study of the NHLBI Programs in Gene by Environment Interaction, of 1,048 white participants in 184 three-generation pedigrees previously screened at the Minnesota and Utah centres of the NHLBI Family Heart Study, who took a standardised high-fat meal challenge and three weeks of fenofibrate treatment, to study genetic determinants of the lipid response to diet and lipid-lowering drugs."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8617762/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1048; "Caucasian individuals in 184 pedigrees"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8617762/fullTextXML"; rdfs:comment "The GOLDN sample consisted of 1048 Caucasian individuals belonging to 184 pedigrees (average family size 6.2)." . _:11e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOLDN"; . a owl:NamedIndividual, ; , ; "GCST90428625"; "A multi-site, multiethnic, community-based longitudinal cohort of 3,302 women aged 42–52 enrolled in 1996–1997 at seven US sites (Boston, Chicago, Detroit, Los Angeles, Pittsburgh, Oakland and Newark) and followed about yearly to study how women's physical, biological, psychological and social health in midlife affects health during ageing."; 3302; "SWAN"; ; rdfs:label "Study of Women's Health Across the Nation"@en . _:11e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13153493/fullTextXML"; rdfs:comment "The Study of Women’s Health Across the Nation interviewed women in their 40s and 50s from seven U.S. cities approximately yearly to collect information on their physical, biological, psychological, and social health." . _:11e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428625"; "Circulating anti-Müllerian hormone levels in pre-menopausal women: novel genetic insights from a genome-wide association meta-analysis."; "PMID:38815977", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11759094/supplementaryFiles"; rdfs:comment "SWAN" . _:11e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site, multiethnic, community-based longitudinal cohort of 3,302 women aged 42–52 enrolled in 1996–1997 at seven US sites (Boston, Chicago, Detroit, Los Angeles, Pittsburgh, Oakland and Newark) and followed about yearly to study how women's physical, biological, psychological and social health in midlife affects health during ageing."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13153493/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3302; "women enrolled at baseline 1996-1997"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12459529/fullTextXML"; rdfs:comment "Of these, a total of 3302 women, comprising 1550 Caucasian, 935 African American, 286 Hispanic, 250 Chinese and 281 Japanese, were deemed eligible and subsequently enrolled into the SWAN cohort for the longitudinal survey, completing the baseline study from January 1996 to December 1997." . _:11e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4361, _:genid-371333f489424440b12a13b9d98ced822608-genid4363; , ; ; "GCST90451702"; "An ongoing nationwide multicentre observational study in Finland, established in 1997 and run from the Folkhälsan Research Center and the University of Helsinki, of nearly 9,000 adults with type 1 diabetes recruited and clinically characterised at study centres across the country and followed through re-examinations, national registries and medical records, to identify factors leading to diabetic kidney disease and other diabetic complications."; 9000; "FinnDiane", "FinnDiane Study", "Finnish Diabetic Nephropathy"; ; rdfs:label "Finnish Diabetic Nephropathy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4361 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4363 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4361; "diabetic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11696681/fullTextXML"; rdfs:comment "Finnish diabetic nephropathy study (FinnDiane) is an ongoing (1997->), nation-wide multicentre study focusing on diabetic complications and currently comprises of over 5000 adults with type 1 diabetes9,10." . _:11e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4363; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11696681/fullTextXML"; rdfs:comment "Finnish diabetic nephropathy study (FinnDiane) is an ongoing (1997->), nation-wide multicentre study focusing on diabetic complications and currently comprises of over 5000 adults with type 1 diabetes9,10." . _:11e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11696681/fullTextXML"; rdfs:comment "In this study, we performed genome-wide association study (GWAS) meta-analyses in a total of 8011 individuals to investigate single nucleotide variants (SNVs) associated with 54 urinary metabolites measured by NMR in one Finnish cohort of individuals with type 1 diabetes (T1D) and two Scottish cohorts from a general population setting." . _:11ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451702"; "Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function."; "PMID:39746953", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11696681/fullTextXML"; rdfs:comment "The analysis included in total of 8011 individuals from the Finnish Diabetic Nephropathy Study (FinnDiane, n = 3244, including 1632 men and 1612 women)9,10, Generation Scotland (GS, n = 2743, including 1373 men and 1370 women)11, and the VIKING study (VIKING, n = 2024, including 811 men and 1213 women)12 (Fig. 1, Supplementary Table 1)." . _:11eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing nationwide multicentre observational study in Finland, established in 1997 and run from the Folkhälsan Research Center and the University of Helsinki, of nearly 9,000 adults with type 1 diabetes recruited and clinically characterised at study centres across the country and followed through re-examinations, national registries and medical records, to identify factors leading to diabetic kidney disease and other diabetic complications."; "PMID:39235140", "PMID:39746953", "https://research.folkhalsan.fi/genetics/finndiane-study"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9000; "participants with type 1 diabetes (approximate, 'nearly 9000'), 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11733665/fullTextXML"; rdfs:comment "Starting as a small‐scale pilot project with the goal of recruiting a few hundred individuals, the FinnDiane Study has evolved over the years into one of the largest well‐characterized cohorts of individuals with type 1 diabetes, now encompassing nearly 9000 participants from across the country." . _:11ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinnDiane"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4370; , , , , ; "GCST90128543"; "A longitudinal multicentre genetic-neuroimaging cohort of about 2,000 healthy 14-year-old adolescents recruited from high schools at eight European sites in England, Ireland, France and Germany, followed up at ages 16, 19 and 22 with behavioural, neuropsychological, MRI and genome-wide data, to study the genetic and neurobiological basis of impulsivity, reinforcer sensitivity and emotional reactivity and their value in predicting psychiatric disorders."; 2223; "IMAGEN", "IMAGEN cohort"; ; rdfs:label "IMAGEN study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4370 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4370; "psychiatric disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21102431+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The IMAGEN study is the first multicentre genetic-neuroimaging study aimed at identifying the genetic and neurobiological basis of individual variability in impulsivity, reinforcer sensitivity and emotional reactivity, and determining their predictive value for the development of frequent psychiatric disorders." . _:11ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9815590/fullTextXML"; rdfs:comment "Participants were recruited from a diverse range of high schools across eight European sites (Dresden, Berlin, Mannheim, and Hamburg in Germany; London and Nottingham in the U.K.; Dublin in Ireland; and Paris in France)." . _:11f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "for the largest adolescent cohort (IMAGEN; N=1,068)" . _:11f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal multicentre genetic-neuroimaging cohort of about 2,000 healthy 14-year-old adolescents recruited from high schools at eight European sites in England, Ireland, France and Germany, followed up at ages 16, 19 and 22 with behavioural, neuropsychological, MRI and genome-wide data, to study the genetic and neurobiological basis of impulsivity, reinforcer sensitivity and emotional reactivity and their value in predicting psychiatric disorders."; "PMID:21102431", "PMID:32601453", "PMID:36603003"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2223; "adolescents recruited in schools around age 14"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10827811/fullTextXML"; rdfs:comment "Neuroimaging and clinical data were obtained from an existing large European multi-site longitudinal study of adolescent development ( https://imagen-project.org ) across eight European sites in France, United Kingdom, Ireland, and Germany, which includes 2,223 adolescents recruited in schools around age 14 (standard deviation = 0.41; age range: 12.9–15.7)." . _:11f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMAGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4377, _:genid-371333f489424440b12a13b9d98ced822608-genid4379; , , ; "GCST000471", "PMID:23377640"; "A naturalistic, open-label longitudinal treatment study of inpatients admitted with a moderate to severe unipolar or bipolar depressive episode to the hospital of the Max Planck Institute of Psychiatry in Munich and collaborating hospitals in Southern Bavaria and Switzerland, characterised clinically, neuroendocrinologically (dex/CRH test) and genetically and followed weekly during treatment, to identify predictors of antidepressant treatment response."; "The acronym MARS also denotes Minority Aging Research Study (COHO:0000499); this term is Munich Antidepressant Response Signature."@en; 842; "MARS", "Munich Antidepressant Response Signature project", "Munich Antidepressant Response Signature study"; ; rdfs:label "Munich Antidepressant Response Signature"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4379 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4377; "depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6387218/fullTextXML"; rdfs:comment "MARS is a naturalistic open-label longitudinal treatment study with inpatients suffering from a depressive episode." . _:11f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4379; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6387218/fullTextXML"; rdfs:comment "MARS is a naturalistic open-label longitudinal treatment study with inpatients suffering from a depressive episode." . _:11f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6387218/fullTextXML"; rdfs:comment "Patients with a moderate to severe depressive episode were recruited from the hospital of the Max Planck Institute of Psychiatry and collaborating hospitals of Southern Bavaria and Switzerland." . _:11f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000471"; "A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression."; "PMID:19736353", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19736353%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed a genomewide association study in patients from the Munich Antidepressant Response Signature (MARS) project and in pooled DNA from an independent German replication sample." . _:11f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23377640"; "Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies."; "PMID:23377640", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23377640+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "the Munich Antidepressant Response Signature [MARS] project" . _:11f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A naturalistic, open-label longitudinal treatment study of inpatients admitted with a moderate to severe unipolar or bipolar depressive episode to the hospital of the Max Planck Institute of Psychiatry in Munich and collaborating hospitals in Southern Bavaria and Switzerland, characterised clinically, neuroendocrinologically (dex/CRH test) and genetically and followed weekly during treatment, to identify predictors of antidepressant treatment response."; "PMID:18586274", "PMID:30678080"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:11fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 842; "participants recruited by 2008"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10416089/unicode"; rdfs:comment "Of the 842 participants recruited by 2008, 339 were included in a previously reported genome-wide pharmacogenetic study, and additional samples from this cohort have been genotyped since then, resulting in 604 (72%) samples from patients with unipolar depression available for the present meta-analysis." . _:11fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MARS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4387; , ; ; "GCST90448418"; "A longitudinal epidemiologic cohort of older African Americans without known dementia, recruited from 2004 from churches, senior buildings and community organisations in the Chicago metropolitan area and followed at Rush University Medical Center, with optional brain donation, to study decline in cognitive function and risk of Alzheimer disease."; "The acronym MARS also denotes Munich Antidepressant Response Signature (COHO:0000498); this term is Minority Aging Research Study."@en; 366; "MARS", "MARS-AA"; ; rdfs:label "Minority Aging Research Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:11fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4387; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22471868+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Minority Aging Research Study (MARS) is a longitudinal, epidemiologic cohort study of decline in cognitive function and risk of Alzheimer's disease (AD) in older African Americans, with brain donation after death added as an optional component for those willing to consider organ donation." . _:11fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11350028/fullTextXML"; rdfs:comment "both MARS and AA Core recruited older African Americans from churches, senior buildings, and social clubs and organizations that serve diverse populations in the Chicago metropolitan area." . _:11fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448418"; "Sex-specific genetic architecture of late-life memory performance."; "PMID:37984853", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC10917043/unicode"; rdfs:comment "Religious Orders Study (ROS)/Rush Memory and Aging Project (MAP)/Minority Aging Research Study (MARS)" . _:11ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal epidemiologic cohort of older African Americans without known dementia, recruited from 2004 from churches, senior buildings and community organisations in the Chicago metropolitan area and followed at Rush University Medical Center, with optional brain donation, to study decline in cognitive function and risk of Alzheimer disease."; "PMID:22471868", "PMID:38934297"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 366; "persons enrolled by the time of the 2012 design paper"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3409294/unicode"; rdfs:comment "After discussing the study in detail with each potential participant, 223 were found to be inelligible because they were either too young, had a prior dementia diagnosis, or were taking AD medications, 112 refused, 71 were reluctant, and 366 persons enrolled in the study." . _:12012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MARS"; . _:12022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MARS-AA"; . a owl:NamedIndividual, ; , ; "GCST90128543"; "A longitudinal study of Australian twins aged 65 years and over, with some of their equivalently aged siblings, recruited through the Australian Twin Registry and a recruitment drive and assessed every two years with psychiatric, neuropsychological, cardiovascular, metabolic, neuroimaging and genetic measures, to study genetic and environmental influences on healthy brain ageing and ageing-related neurocognitive disorders."; 623; "OATS", "Older Australian Twin Study"; ; rdfs:label "Older Australian Twins Study"@en . _:12032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "The Older Australian Twin Study (OATS) is supported by the Australian NHMRC/Australian Research Council Strategic Award (Grant 401162) and the NHMRC Project grant 1405325." . _:12042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of Australian twins aged 65 years and over, with some of their equivalently aged siblings, recruited through the Australian Twin Registry and a recruitment drive and assessed every two years with psychiatric, neuropsychological, cardiovascular, metabolic, neuroimaging and genetic measures, to study genetic and environmental influences on healthy brain ageing and ageing-related neurocognitive disorders."; "PMID:19943720", "PMID:27030319"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 623; "twins and their siblings aged 65+ recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9896753/fullTextXML"; rdfs:comment "OATS recruited 623 twins and their siblings, aged 65 years and older and residing in New South Wales, Victoria or Queensland from the Australian Twin Registry." . _:12062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OATS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4399; , ; "GCST90275731"; "A prospective observational cohort of adults with proven or probable Lyme borreliosis in the Netherlands, included at the start of antibiotic treatment from 2015 and followed for one year with questionnaires and repeated blood sampling, run by RIVM with the Lyme borreliosis expert centres of Amsterdam UMC and Radboudumc to study the prevalence and determinants of persistent symptoms after treatment."; 1138; "LymeProspect cohort", "LymeProspect study"; ; rdfs:label "LymeProspect"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4399 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4399; "Lyme borreliosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076587/fullTextXML"; rdfs:comment "The LymeProspect cohort consisted of 1138 patients with a new physician-confirmed LB (either EM or disseminated manifestation) who were included at the initiation of antibiotic therapy and followed for one year, between April 2015 and October 201818,19." . _:12082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6466793/fullTextXML"; rdfs:comment "The LymeProspect study has been designed to investigate the prevalence, severity, and a wide range of hypotheses on the etiology of persistent symptoms among patients treated for Lyme borreliosis in the Netherlands." . _:12092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90275731"; "A comprehensive genetic map of cytokine responses in Lyme borreliosis."; "PMID:38714679", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076587/fullTextXML"; rdfs:comment "The LymeProspect cohort consisted of 1138 patients with a new physician-confirmed LB (either EM or disseminated manifestation) who were included at the initiation of antibiotic therapy and followed for one year" . _:120a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of adults with proven or probable Lyme borreliosis in the Netherlands, included at the start of antibiotic treatment from 2015 and followed for one year with questionnaires and repeated blood sampling, run by RIVM with the Lyme borreliosis expert centres of Amsterdam UMC and Radboudumc to study the prevalence and determinants of persistent symptoms after treatment."; "PMID:30987580", "PMID:38714679"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:120b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1138; "adult patients with confirmed Lyme borreliosis included April 2015-October 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076587/fullTextXML"; rdfs:comment "The LymeProspect cohort consisted of 1138 patients with a new physician-confirmed LB (either EM or disseminated manifestation) who were included at the initiation of antibiotic therapy and followed for one year, between April 2015 and October 2018" . a owl:NamedIndividual, ; , , ; ; "GCST90308605"; "A cross-sectional cohort of 323 healthy adults aged 18-65 living in the Kilimanjaro region of northern Tanzania, enrolled within the Human Functional Genomics Project by Radboudumc and Tanzanian partners, with ex vivo cytokine stimulations at the Kilimanjaro Clinical Research Institute in Moshi, to study genetic and environmental determinants of immune responses in an African population."; 323; "300 Tanzania functional genomics (FG) study", "300TZFG"; ; rdfs:label "300-Tanzania-FG"@en . _:120c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473835/fullTextXML"; rdfs:comment "Briefly, the 300TZFG cohort consists of 323 healthy Tanzanian individuals aged between 18 and 65 years residing in the Kilimanjaro region in Northern Tanzania." . _:120d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308605"; "A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population."; "PMID:35167808", "https://europepmc.org/articles/PMC8948159?pdf=render"; rdfs:comment "Data from the 300 Tanzania functional genomics (FG) (300TZFG) were used in this study." . _:120e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional cohort of 323 healthy adults aged 18-65 living in the Kilimanjaro region of northern Tanzania, enrolled within the Human Functional Genomics Project by Radboudumc and Tanzanian partners, with ex vivo cytokine stimulations at the Kilimanjaro Clinical Research Institute in Moshi, to study genetic and environmental determinants of immune responses in an African population."; "PMID:37555575", "PMID:41858114"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:120f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 323; "healthy adults aged 18-65 in the Tanzanian cohort (2017)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13071459/fullTextXML"; rdfs:comment "The Tanzanian cohort comprised 323 healthy individuals (159 males, 164 females) aged 18–65 years, residing in the Kilimanjaro region of Northern Tanzania." . _:12102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "300TZFG"; . a owl:NamedIndividual, ; , ; "GCST90128454"; "An ancestrally diverse biobank embedded in the UCLA Health medical system in Los Angeles County, run by the UCLA Institute for Precision Health, that links genomic data from blood samples of consenting UCLA Health patients (36,736 genotyped in 2022) to their de-identified electronic health records, for genetic and precision-health research."; 104516; "ATLAS", "ATLAS Community Health Initiative", "UCLA", "University of California, Los Angeles ATLAS Community Health Initiative"; ; rdfs:label "UCLA ATLAS Community Health Initiative"@en . _:12112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9461263/fullTextXML"; rdfs:comment "The UCLA Health system serves Los Angeles County, leading to a study population of great demographic, genetic, and phenotypic diversity." . _:12122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128454"; "Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative."; "PMID:36085083", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36085083+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we explore the implications of genetic ancestry within the University of California, Los Angeles (UCLA) ATLAS Community Health Initiative-an ancestrally diverse biobank of genomic data linked with de-identified electronic health records (EHRs) of UCLA Health patients (N=36,736)." . _:12132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ancestrally diverse biobank embedded in the UCLA Health medical system in Los Angeles County, run by the UCLA Institute for Precision Health, that links genomic data from blood samples of consenting UCLA Health patients (36,736 genotyped in 2022) to their de-identified electronic health records, for genetic and precision-health research."; "PMID:36085083", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9461263/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 104516; "UCLA Health patients who consented to ATLAS (enrolled group), as of December 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13087405/fullTextXML"; rdfs:comment "From these, 104,516 individuals consented to participate in the ATLAS Initiative and comprised the enrolled group, with the remainder of the individuals labeled as unenrolled." . _:12152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATLAS"; . _:12162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCLA"; . a owl:NamedIndividual, ; , ; , ; "GCST90054779"; "A family study of Hispanic (Mexican American) families recruited at clinical centres in San Antonio, Texas and the San Luis Valley, Colorado and African American families recruited in Los Angeles, California, selected on family size rather than health status and examined with CT scans of visceral fat and frequently sampled glucose tolerance tests, to identify the genetic and environmental determinants of insulin resistance and visceral adiposity."; "The acronym IRAS also denotes Insulin Resistance Atherosclerosis Study (COHO:0000872); this term is Insulin Resistance Atherosclerosis Family Study."@en; "IRAS", "IRAS FS", "IRAS Family Study", "IRAS-FS", "IRASFS", "Insulin Resistance Atherosclerosis Study Family Study"; ; rdfs:label "Insulin Resistance Atherosclerosis Family Study"@en . _:12172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640864/fullTextXML"; rdfs:comment "Specific to this study, Mexican American families were recruited from two clinical centers including San Antonio, TX, and San Luis Valley, CO, and African Americans were recruited from one clinical center in Los Angeles, CA." . _:12182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90054779"; "Metabolomic architecture of obesity implicates metabolonic lactone sulfate in cardiometabolic disease."; "PMID:34563731", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34563731%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Untargeted plasma metabolomic profiles in the Insulin Resistance Atherosclerosis Family Study (IRASFS) Mexican American cohort" . _:12192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Hispanic (Mexican American) families recruited at clinical centres in San Antonio, Texas and the San Luis Valley, Colorado and African American families recruited in Los Angeles, California, selected on family size rather than health status and examined with CT scans of visceral fat and frequently sampled glucose tolerance tests, to identify the genetic and environmental determinants of insulin resistance and visceral adiposity."; "PMID:12684185", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5884862/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8640864/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:121a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRAS"; . _:121b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRAS FS"; . _:121c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRAS-FS"; . _:121d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRASFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4423, _:genid-371333f489424440b12a13b9d98ced822608-genid4425, _:genid-371333f489424440b12a13b9d98ced822608-genid4427, _:genid-371333f489424440b12a13b9d98ced822608-genid4429; , ; , ; "GCST90570665"; "A nested case-control genome-wide association sub-study of the Women's Health Initiative hormone therapy trials, comprising the coronary heart disease, stroke, venous thromboembolism and selected diabetes cases that arose during the active intervention phase and age-matched controls, genotyped under the NHGRI Genomics and Randomized Trials Network (GARNET)."; 2344; 4894; "GARNET", "Genome-wide Association Research Network into Effects of Treatment", "Genomics and Randomized Trials Network", "WHI GARNET", "WHI-GARNET", "Womens Health Initiative Genome-wide Association Research Network into Effects of Treatment"; ; rdfs:label "WHI Genomics and Randomized Trials Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4425 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4427 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4429 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:121e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4423; "coronary heart disease"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "WHI Genomics and Randomized Trials Network – GARNET, which included all coronary heart disease, stroke, venous thromboembolic events and selected diabetes cases that happened during the active intervention phase in the WHI HT clinical trials and aged matched controls" . _:121f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4425; "diabetes"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "WHI Genomics and Randomized Trials Network – GARNET, which included all coronary heart disease, stroke, venous thromboembolic events and selected diabetes cases that happened during the active intervention phase in the WHI HT clinical trials and aged matched controls" . _:12202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4427; "stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "WHI Genomics and Randomized Trials Network – GARNET, which included all coronary heart disease, stroke, venous thromboembolic events and selected diabetes cases that happened during the active intervention phase in the WHI HT clinical trials and aged matched controls" . _:12212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4429; "venous thromboembolism"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "WHI Genomics and Randomized Trials Network – GARNET, which included all coronary heart disease, stroke, venous thromboembolic events and selected diabetes cases that happened during the active intervention phase in the WHI HT clinical trials and aged matched controls" . _:12222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "A total of 161,838 women aged 50–79 years old were recruited from 40 clinical centers in the US between 1993 and 1998." . _:12232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714283/fullTextXML"; rdfs:comment "White WHI participants were drawn from three substudies: the Genome-wide Association Research Network into Effects of Treatment (GARNET) (National Institutes of Health 2013), Modification of PM-Mediated Arrhythmogenesis in Populations (MOPMAP) (National Institutes of Health 2010), and Women's Health Initiative Memory Study (WHIMS) (Shumaker et al. 1998)." . _:12242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0519-3/MediaObjects/41588_2019_519_MOESM1_ESM.pdf"; rdfs:comment "The WHI-GARNET sub-study consisted of individuals selected as a nested case- control sample of coronary heart disease, stroke, venous thrombosis, and incident diabetes events from the parent WHI Hormone Therapy Trial." . _:12252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90570665"; "Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids."; "PMID:40537477", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "WHI Genomics and Randomized Trials Network – GARNET, which included all coronary heart disease, stroke, venous thromboembolic events and selected diabetes cases that happened during the active intervention phase in the WHI HT clinical trials and aged matched controls" . _:12262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control genome-wide association sub-study of the Women's Health Initiative hormone therapy trials, comprising the coronary heart disease, stroke, venous thromboembolism and selected diabetes cases that arose during the active intervention phase and age-matched controls, genotyped under the NHGRI Genomics and Randomized Trials Network (GARNET)."; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714283/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2344; "WHI hormone-trial women genotyped in the GARNET nested case-control sample"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000315.v8.p3"; rdfs:comment "Of the approximately 27,000 women who participated in the HT trial, 4,894 were genotyped on the Illumina Omni-Quad as part of WHI GARNET, a genome-wide association study (GWAS) to identify genetic components involved in differential responses from the HT trial." . _:12282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4894; "WHI hormone-trial women genotyped in the GARNET nested case-control sample"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000315.v8.p3"; rdfs:comment "Of the approximately 27,000 women who participated in the HT trial, 4,894 were genotyped on the Illumina Omni-Quad as part of WHI GARNET, a genome-wide association study (GWAS) to identify genetic components involved in differential responses from the HT trial." . _:12292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARNET"; . _:122a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI GARNET"; . _:122b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-GARNET"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4441; , ; "GCST90128543"; "A case-control sample of 158 people of European ancestry, patients with amyotrophic lateral sclerosis and healthy controls, from University Medical Center Utrecht, the Netherlands, with longitudinal 3.0 T brain MRI and whole-genome sequencing, contributed to the ENIGMA Plasticity Working Group genome-wide meta-analysis of brain structure change."; 27; 158; "ALS"; ; rdfs:label "ALS Utrecht"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4441 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:122c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4441; "amyotrophic lateral sclerosis" . _:122d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "Department of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands." . _:122e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "ALS Utrecht:The authors acknowledge grants supporting their work from the European Union’s Horizon 2020 Research and Innovation Programme" . _:122f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of 158 people of European ancestry, patients with amyotrophic lateral sclerosis and healthy controls, from University Medical Center Utrecht, the Netherlands, with longitudinal 3.0 T brain MRI and whole-genome sequencing, contributed to the ENIGMA Plasticity Working Group genome-wide meta-analysis of brain structure change."; "PMID:35383335", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41593-022-01042-4/MediaObjects/41593_2022_1042_MOESM3_ESM.xlsx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27; "subjects (ALS patients and healthy controls) contributed to the ENIGMA Plasticity GWAS"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41593-022-01042-4/MediaObjects/41593_2022_1042_MOESM3_ESM.xlsx" . _:12312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 158; "subjects (ALS patients and healthy controls) contributed to the ENIGMA Plasticity GWAS"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41593-022-01042-4/MediaObjects/41593_2022_1042_MOESM3_ESM.xlsx" . _:12322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALS"; . a owl:NamedIndividual, ; , ; "GCST90128543"; "A pool of self-reported healthy volunteers, many of them university students, who took part in diverse imaging studies at the Donders Centre for Cognitive Neuroimaging in Nijmegen, the Netherlands, and consented to pooling of their anatomical MRI scans with DNA for imaging genetics; established in 2007 and now part of the Cognomics initiative."; 2337; "BIG", "Brain Imaging Genetics"; ; rdfs:label "Brain Imaging Genetics study"@en . _:12332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3975119/fullTextXML"; rdfs:comment "The Brain Imaging Genetics (BIG) study was initiated in 2007 and comprises healthy volunteer subjects, including many university students, who participate in diverse imaging studies at the Donders Centre for Cognitive Neuroimaging (DCCN), Nijmegen, The Netherlands (Franke et al., 2010)." . _:12342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "This study used the BIG database, which was established in Nijmegen in 2007." . _:12352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pool of self-reported healthy volunteers, many of them university students, who took part in diverse imaging studies at the Donders Centre for Cognitive Neuroimaging in Nijmegen, the Netherlands, and consented to pooling of their anatomical MRI scans with DNA for imaging genetics; established in 2007 and now part of the Cognomics initiative."; "PMID:24734025", "PMID:25013396"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2337; "healthy volunteers in the BIG subject pool with anatomical MRI (2014)"; "PMID:24734025"; rdfs:comment "At the time of this study the BIG subject-pool consisted of 2337 self-reported healthy individuals (1248 females) who had undergone anatomical (T1-weighted) MRI scans, usually as part of their involvement in diverse smaller-scale studies at the DCCN, and who had given their consent to participate in BIG." . _:12372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIG"; . a owl:NamedIndividual, ; , ; ; "GCST90128543"; "A longitudinal study of Dutch twin families recruited from the Netherlands Twin Register, starting with 112 families of 9-year-old twins and an older sibling who were assessed at three-year intervals with IQ and neuropsychological tests, behavioural ratings, pubertal hormones, brain MRI and DNA collection, to study genetic and environmental influences on brain structure and cognition from childhood into adolescence."; "Brain SCALE", "BrainSCALE", "Brainscale Study"; ; rdfs:label "BrainSCALE study"@en . _:12382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22856378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In The Netherlands, we initiated a longitudinal study in which twins, their siblings and their parents are assessed at three year intervals." . _:12392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22856378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The participants were recruited from The Netherlands Twin Register (NTR) and at baseline consisted of 112 families, with 9-year-old twins and an older sibling." . _:123a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "The BrainSCALE study is a collaborative project between Netherlands Twin Register (NTR) at the Vrije Universiteit (VU) Amsterdam and University Medical Center Utrecht (UMCU)." . _:123b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of Dutch twin families recruited from the Netherlands Twin Register, starting with 112 families of 9-year-old twins and an older sibling who were assessed at three-year intervals with IQ and neuropsychological tests, behavioural ratings, pubertal hormones, brain MRI and DNA collection, to study genetic and environmental influences on brain structure and cognition from childhood into adolescence."; "PMID:22856378"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:123c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BrainSCALE"; . a owl:NamedIndividual, ; , ; "GCST90128543"; "A genetically homogeneous sample of healthy Norwegian adults spanning the adult life span, collected from 2003 to study cognitive ageing and genetic risk factors and genome-wide genotyped in 2009, with MRI and experimental cognitive data on attention and working memory, for studies of the genetics of cognitive and brain function."; 670; "NCNG", "Norwegian Cognitive NeuroGenetics Study"; ; rdfs:label "Norwegian Cognitive NeuroGenetics sample"@en . _:123d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "The NCNG sample collection was supported by grants from the Bergen Research Foundation and the University of Bergen, the Dr Einar Martens Fund, the K.G. Jebsen Foundation, the Research Council of Norway, to SLH, VMS and TE." . _:123e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetically homogeneous sample of healthy Norwegian adults spanning the adult life span, collected from 2003 to study cognitive ageing and genetic risk factors and genome-wide genotyped in 2009, with MRI and experimental cognitive data on attention and working memory, for studies of the genetics of cognitive and brain function."; "PMID:22856377"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:123f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 670; "participants genome-wide genotyped (GWA sample), 2012"; "PMID:22856377"; rdfs:comment "The sample on which the GWA study was successfully performed consists of 670 persons recruited through newspaper advertisements in the Oslo and Bergen urban areas." . _:12402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCNG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4463; , ; ; "GCST90128543"; "A multi-site prospective cohort following up the Dutch families of the International Multicenter ADHD Genetics project together with newly recruited families, comprising 1,069 children from ADHD and control families and 848 parents assessed with diagnostic interviews, questionnaires, cognitive tests, structural and functional MRI and genome-wide genotyping, to study the course of ADHD into adolescence and adulthood and its genetic, environmental and neural underpinnings."; 1069; "NeuroIMAGE"; ; rdfs:label "NeuroIMAGE study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4463 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4463; "attention-deficit/hyperactivity disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25012461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "It is a multi-site prospective cohort study designed to investigate the course of ADHD, its genetic and environmental determinants, its cognitive and neurobiological underpinnings, and its consequences in adolescence and adulthood." . _:12422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25012461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The NeuroIMAGE study is a follow-up of the Dutch part of the International Multicenter ADHD Genetics (IMAGE) project." . _:12432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25012461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The NeuroIMAGE study is a follow-up of the Dutch part of the International Multicenter ADHD Genetics (IMAGE) project." . _:12442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128543"; "Genetic variants associated with longitudinal changes in brain structure across the lifespan."; "PMID:35383335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10040206/fullTextXML"; rdfs:comment "The NeuroIMAGE study was supported by NIH Grant R01MH62873 (to Stephen V. Faraone)" . _:12452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site prospective cohort following up the Dutch families of the International Multicenter ADHD Genetics project together with newly recruited families, comprising 1,069 children from ADHD and control families and 848 parents assessed with diagnostic interviews, questionnaires, cognitive tests, structural and functional MRI and genome-wide genotyping, to study the course of ADHD into adolescence and adulthood and its genetic, environmental and neural underpinnings."; "PMID:25012461"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1069; "children assessed (848 parents assessed in addition), 2009-2012"; "PMID:25012461"; rdfs:comment "Combined with newly recruited participants the NeuroIMAGE study comprehends an assessment of 1,069 children (751 from ADHD families; 318 from CON families) and 848 parents (582 from ADHD families; 266 from CON families)." . _:12472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NeuroIMAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4471, _:genid-371333f489424440b12a13b9d98ced822608-genid4473, _:genid-371333f489424440b12a13b9d98ced822608-genid4475; , ; "GCST90277442"; "A population-based randomised non-pharmacological lifestyle intervention trial for the prevention of ischaemic heart disease, run in 1999–2006 at the Research Centre for Prevention and Health in Glostrup, Copenhagen, Denmark, on random samples of adults aged 30–60 drawn from a population of 61,301 and followed through questionnaires and central registers."; 6784; "INTER99", "Inter99", "Inter99 cohort"; ; rdfs:label "Inter99 Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4471 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4473 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4475 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4471; "smoking cessation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14663300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of Inter99 is to assess the effect on IHD incidence of individually tailored non-pharmacological intervention on lifestyle using a newly developed computer-based health educational tool." . _:12492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4473; "lifestyle", "physical activity/diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14663300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of Inter99 is to assess the effect on IHD incidence of individually tailored non-pharmacological intervention on lifestyle using a newly developed computer-based health educational tool." . _:124a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4475; "ischaemic heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3674994/fullTextXML"; rdfs:comment "The Inter99 cohort is a randomized, non-pharmacological intervention study for the prevention of ischaemic heart disease, conducted on 6,784 randomly ascertained participants aged 30 to 60 years at the Research Centre for Prevention and Health in Glostrup, Denmark [45] (ClinicalTrials.gov: NCT00289237)." . _:124b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25886540+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study was a population-based randomized controlled trial, Inter99 (1999-2006), Copenhagen, Denmark." . _:124c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90277442"; "Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets."; "PMID:23754956", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3674994/fullTextXML"; rdfs:comment "The Inter99 cohort is a randomized, non-pharmacological intervention study for the prevention of ischaemic heart disease, conducted on 6,784 randomly ascertained participants aged 30 to 60 years at the Research Centre for Prevention and Health in Glostrup, Denmark [45]" . _:124d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based randomised non-pharmacological lifestyle intervention trial for the prevention of ischaemic heart disease, run in 1999–2006 at the Research Centre for Prevention and Health in Glostrup, Copenhagen, Denmark, on random samples of adults aged 30–60 drawn from a population of 61,301 and followed through questionnaires and central registers."; "PMID:14663300", "PMID:23754956", "PMID:25886540"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:124e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6784; "participants examined at baseline (intervention groups), 1999-2001"; "PMID:23754956"; rdfs:comment "The Inter99 cohort is a randomized, non-pharmacological intervention study for the prevention of ischaemic heart disease, conducted on 6,784 randomly ascertained participants aged 30 to 60 years at the Research Centre for Prevention and Health in Glostrup, Denmark [45] (ClinicalTrials.gov: NCT00289237)." . _:124f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTER99"; . _:12502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Inter99"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4483, _:genid-371333f489424440b12a13b9d98ced822608-genid4485, _:genid-371333f489424440b12a13b9d98ced822608-genid4487, _:genid-371333f489424440b12a13b9d98ced822608-genid4489; , ; ; "GCST90239707"; "A Danish population-based case-cohort sample established by the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) to study the genetic and environmental architecture of severe mental disorders, combining persons diagnosed with schizophrenia, autism, ADHD or affective disorder with a random sample of the population, genotyped from neonatal dried blood spots in the Danish Neonatal Screening Biobank and linked to national registers. Its first wave (iPSYCH2012, 86,189 individuals born 1981-2005) was expanded as iPSYCH2015 to 141,265 samples, including 50,615 population controls, nested within the Danish population born 1981-2008 and adding schizophrenia spectrum and post-partum disorder cases."; 93608; 50615; 141265; "IPSYCH", "Integrative Psychiatric Research Consortium", "Lundbeck Foundation Initiative for Integrative Psychiatric Research", "iPSYCH", "iPSYCH Danish case-cohort study", "iPSYCH2012", "iPSYCH2012 case-cohort sample", "iPSYCH2015", "iPSYCH2015 case-cohort sample"; ; rdfs:label "iPSYCH case-cohort study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4483 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4485 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4487 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4489 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4483; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28924187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cases were identified as persons with schizophrenia (N=3540), autism (N=16 146), attention-deficit/hyperactivity disorder (N=18 726) and affective disorder (N=26 380), of which 1928 had bipolar affective disorder." . _:12522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4485; "autism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28924187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cases were identified as persons with schizophrenia (N=3540), autism (N=16 146), attention-deficit/hyperactivity disorder (N=18 726) and affective disorder (N=26 380), of which 1928 had bipolar affective disorder." . _:12532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4487; "affective disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28924187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cases were identified as persons with schizophrenia (N=3540), autism (N=16 146), attention-deficit/hyperactivity disorder (N=18 726) and affective disorder (N=26 380), of which 1928 had bipolar affective disorder." . _:12542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4489; "attention-deficit/hyperactivity disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28924187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cases were identified as persons with schizophrenia (N=3540), autism (N=16 146), attention-deficit/hyperactivity disorder (N=18 726) and affective disorder (N=26 380), of which 1928 had bipolar affective disorder." . _:12552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28924187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The iPSYCH2012 sample is nested within the entire Danish population born between 1981 and 2005, including 1 472 762 persons." . _:12562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239707"; "Genome-wide by Environment Interaction Study of Stressful Life Events and Hospital-Treated Depression in the iPSYCH2012 Sample."; "PMID:36324662", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36324662+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All individuals were drawn from the iPSYCH2012 case-cohort study, a nationally representative sample identified from Danish national registers." . _:12572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish population-based case-cohort sample established by the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) to study the genetic and environmental architecture of severe mental disorders, combining persons diagnosed with schizophrenia, autism, ADHD or affective disorder with a random sample of the population, genotyped from neonatal dried blood spots in the Danish Neonatal Screening Biobank and linked to national registers. Its first wave (iPSYCH2012, 86,189 individuals born 1981-2005) was expanded as iPSYCH2015 to 141,265 samples, including 50,615 population controls, nested within the Danish population born 1981-2008 and adding schizophrenia spectrum and post-partum disorder cases."; "PMID:28924187", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:PPR247289%20AND%20SRC:PPR&resultType=core&format=json"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 93608; "samples in iPSYCH2015 (cases plus population-based cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:PPR247289%20AND%20SRC:PPR&resultType=core&format=json"; rdfs:comment "The newly updated cohort, named iPSYCH2015, expands the study base with 56,233 samples, to a combined total of 141,265 samples." . _:12592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50615; "samples in iPSYCH2015 (cases plus population-based cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:PPR247289%20AND%20SRC:PPR&resultType=core&format=json"; rdfs:comment "The newly updated cohort, named iPSYCH2015, expands the study base with 56,233 samples, to a combined total of 141,265 samples." . _:125a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 141265; "samples in iPSYCH2015 (cases plus population-based cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:PPR247289%20AND%20SRC:PPR&resultType=core&format=json"; rdfs:comment "The newly updated cohort, named iPSYCH2015, expands the study base with 56,233 samples, to a combined total of 141,265 samples." . _:125b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPSYCH"; . _:125c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iPSYCH"; . _:125d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iPSYCH2012"; . _:125e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iPSYCH2015"; . a owl:NamedIndividual, ; , , , ; "GCST90502764"; "A longitudinal, multicentre, multinational family study of 4,953 members of 539 two-generation families selected for exceptional familial longevity, recruited in 2006-2009 through field centres in Boston, New York and Pittsburgh in the United States and in Denmark and re-examined in 2014-2017, to study the genetic and non-genetic determinants of exceptional longevity and healthy ageing."; 4953; "LLFS", "Long-Life Family Study", "NIA Long Life Family Study"; ; rdfs:label "Long Life Family Study"@en . _:125f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8974329/fullTextXML"; rdfs:comment "The University of Southern Denmark field center identified individuals who would be ages 90 and above during the study recruitment period through the Danish National Register of Persons" . _:12602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502764"; "Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease."; "PMID:38380866", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38380866+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants in Long-Life Family Study (LLFS) exhibit delayed onset of dementia, offering a unique opportunity to investigate LOAD genetics." . _:12612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal, multicentre, multinational family study of 4,953 members of 539 two-generation families selected for exceptional familial longevity, recruited in 2006-2009 through field centres in Boston, New York and Pittsburgh in the United States and in Denmark and re-examined in 2014-2017, to study the genetic and non-genetic determinants of exceptional longevity and healthy ageing."; "PMID:34739053"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4953; "individuals enrolled at Visit 1 from 539 families (2006-2009)"; "PMID:34739053"; rdfs:comment "LLFS successfully enrolled and extensively phenotyped 4,953 individuals from 539 two-generational families that demonstrated clustering for exception longevity in the upper generation (ie, with a sibship FLoSS > 7) from 3 US field sites (Boston University, Boston, MA; Columbia University, New York, NY; and University of Pittsburgh, Pittsburgh, PA) and one field site in Denmark (University of Southern Denmark, Odense, Denmark; Table 1)." . _:12632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LLFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4506, _:genid-371333f489424440b12a13b9d98ced822608-genid4508; , ; "GCST90711144"; "A multicentre observational cohort of about 10,000 non-Hispanic white and African American current and former smokers with and without COPD, aged 45-80, enrolled at 21 clinical centres across the United States and followed longitudinally with chest CT imaging and genome-wide genotyping to identify genetic factors and CT-defined subtypes of COPD."; 10198; "COPDGene", "COPDGene study", "Chronic Obstructive Pulmonary Disease Gene Study", "Genetic Epidemiology of COPD study", "Genetic Epidemiology of Chronic Obstructive Pulmonary Disease"; ; rdfs:label "Genetic Epidemiology of COPD"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4506 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4508 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4506; "cigarette smoking (a history of ≥10 pack-year smoking)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10221198/fullTextXML"; rdfs:comment "COPDGene enrolled 10,198 former and current smokers aged 45–80 years with a history of ≥10 pack-year smoking with and without COPD from initiation in P1 from 21 clinical centers across the United States (Figure 1) [4]." . _:12652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4508; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11276683/fullTextXML"; rdfs:comment "The COPDGene study was ascertained based on smoking status and COPD case-control status." . _:12662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10221198/fullTextXML"; rdfs:comment "COPDGene enrolled 10,198 former and current smokers aged 45–80 years with a history of ≥10 pack-year smoking with and without COPD from initiation in P1 from 21 clinical centers across the United States (Figure 1) [4]." . _:12672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90711144"; "Association of PHACTR1 with Coronary Artery Calcium Differs by Sex and Cigarette Smoking."; "PMID:39057616", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11276683/fullTextXML"; rdfs:comment "we performed GWA analyses of CAC among all participants and stratified by sex in the Genetic Epidemiology of COPD (COPDGene) study, a large cohort of current and former smokers enriched with COPD cases" . _:12682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre observational cohort of about 10,000 non-Hispanic white and African American current and former smokers with and without COPD, aged 45-80, enrolled at 21 clinical centres across the United States and followed longitudinally with chest CT imaging and genome-wide genotyping to identify genetic factors and CT-defined subtypes of COPD."; "PMID:20214461", "PMID:37241208"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10198; "current and former smokers enrolled in Phase 1 (2008-2011)"; "PMID:37241208"; rdfs:comment "COPDGene enrolled 10,198 former and current smokers aged 45–80 years with a history of ≥10 pack-year smoking with and without COPD from initiation in P1 from 21 clinical centers across the United States (Figure 1) [4]." . _:126a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPDGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4515, _:genid-371333f489424440b12a13b9d98ced822608-genid4517; , ; "GCST90134637"; "A population-based prospective cohort of a representative sample of healthy adults aged 25-41 in the Principality of Liechtenstein, enrolled from June 2010 without cardiovascular disease, diabetes or severe obesity, with ambulatory blood pressure, Holter ECG, spirometry, sleep oximetry and blood, urine and genetic sampling, and followed up every 3-5 years to study genetic and phenotypic predictors of cardiovascular risk factors in young adults."; 2170; "GAPP", "GAPP study", "The genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors (Liechtenstein)"; ; rdfs:label "Genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4515 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4517 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:126b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4515; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23299990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GAPP affords an excellent opportunity to assess genetic and phenotypic predictors of cardiovascular risk factors and their progression over time in young and healthy adults from the general population." . _:126c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4517; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23299990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GAPP affords an excellent opportunity to assess genetic and phenotypic predictors of cardiovascular risk factors and their progression over time in young and healthy adults from the general population." . _:126d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9576575/fullTextXML"; rdfs:comment "Genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors (GAPP) is a population-based prospective cohort study involving a representative sample of healthy adults aged 25–41 years residing in the Principality of Liechtenstein (Conen et al., 2013)." . _:126e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134637"; "Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency."; "PMID:36267918", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9576575/fullTextXML"; rdfs:comment "Genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors (GAPP) is a population-based prospective cohort study involving a representative sample of healthy adults aged 25–41 years residing in the Principality of Liechtenstein (Conen et al., 2013)." . _:126f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of a representative sample of healthy adults aged 25-41 in the Principality of Liechtenstein, enrolled from June 2010 without cardiovascular disease, diabetes or severe obesity, with ambulatory blood pressure, Holter ECG, spirometry, sleep oximetry and blood, urine and genetic sampling, and followed up every 3-5 years to study genetic and phenotypic predictors of cardiovascular risk factors in young adults."; "PMID:23299990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2170; "healthy adults enrolled at baseline (2010-2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6085127/fullTextXML"; rdfs:comment "Briefly, the cohort is composed of a representative population of 2170 healthy adults aged 25–41 with residence in the Principality of Liechtenstein." . _:12712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAPP"; . a owl:NamedIndividual, ; , ; , , ; ; "GCST90244755"; "A prospective genome-wide association cohort of more than 25,000 initially healthy American female health professionals aged 45 or older from the Women's Health Study who gave a baseline blood sample, followed since 1992 for incident cardiovascular disease, cancer, diabetes and other outcomes."; 23294; "WGHS", "Womens Genome Health Study"; ; rdfs:label "Women's Genome Health Study"@en . _:12722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18070814+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The primary aim of the Women's Genome Health Study (WGHS) is to create a comprehensive, fully searchable genome-wide database of >360 000 single nucleotide polymorphisms among at least 25 000 initially healthy American women participating in the ongoing NIH-funded Women's Health Study (WHS)." . _:12732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18070814+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The primary aim of the Women's Genome Health Study (WGHS) is to create a comprehensive, fully searchable genome-wide database of >360 000 single nucleotide polymorphisms among at least 25 000 initially healthy American women participating in the ongoing NIH-funded Women's Health Study (WHS)." . _:12742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244755"; "Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity."; "PMID:38052102", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10767824/fullTextXML"; rdfs:comment "The Women’s Genome Health Study (WGHS) is a population-based, prospective cohort of initially healthy, female North American health care professionals at least 45 years old at baseline, representing participants in the Women’s Health Study (WHS) who provided a blood sample at baseline and consented for blood-based analyses." . _:12752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective genome-wide association cohort of more than 25,000 initially healthy American female health professionals aged 45 or older from the Women's Health Study who gave a baseline blood sample, followed since 1992 for incident cardiovascular disease, cancer, diabetes and other outcomes."; "PMID:18070814", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10767824/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23294; "genotyped women of European ancestry (analysed GWAS sample)"; "PMID:29315215"; rdfs:comment "Analysis was performed in the Women's Genome Health Study (WGHS), including 23,294 women of European ancestry who were cancer-free at baseline and followed for 20 years for incident cancer." . _:12772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WGHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4530, _:genid-371333f489424440b12a13b9d98ced822608-genid4532; , ; "GCST90502757"; "A community-based cohort of Mexican Americans in Brownsville, Cameron County, Texas, on the United States-Mexico border, established in 2004 by the University of Texas School of Public Health Brownsville campus from households in randomly selected census tract blocks, to study the prevalence and determinants of obesity, diabetes and related chronic disease in this population."; 2000; "CCHC"; ; rdfs:label "Cameron County Hispanic Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4530 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4532 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4530; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20394692+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established a cohort on the United States-Mexico border to determine the prevalence of obesity and diabetes in this Mexican American population and to see whether minor economic advantages had any effect on health." . _:12792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4532; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20394692+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established a cohort on the United States-Mexico border to determine the prevalence of obesity and diabetes in this Mexican American population and to see whether minor economic advantages had any effect on health." . _:127a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20394692%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We established a cohort on the United States-Mexico border to determine the prevalence of obesity and diabetes in this Mexican American population" . _:127b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502757"; "Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects."; "PMID:39885687", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Cameron County Hispanic Cohort (CCHC) is a community-based cohort study initiated in 2004 of Mexican Americans in Brownsville, Texas." . _:127c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of Mexican Americans in Brownsville, Cameron County, Texas, on the United States-Mexico border, established in 2004 by the University of Texas School of Public Health Brownsville campus from households in randomly selected census tract blocks, to study the prevalence and determinants of obesity, diabetes and related chronic disease in this population."; "PMID:20394692", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:127d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "participants recruited 2004-2007"; "PMID:20394692"; rdfs:comment "From 2004 through 2007, we recruited 2,000 participants to the CCHC who are residents of Brownsville, Texas, which has 8 international crossing points to Matamoros, Mexico." . _:127e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCHC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4539; , , , , , , , , , , , , , , , , , ; , ; ; "GCST90654647"; "A US consortium that assembles genome-wide genotype data and harmonized phenotypes from many case-control, family-based, population-based and longitudinal Alzheimer disease cohorts, in more than 30 GWAS datasets of several ancestries, for genetic studies of late-onset Alzheimer disease."; 24388; 31853; 56000; "ADGC", "Alzheimer Disease Genetic Consortium", "Alzheimer Disease Genetics Consortium", "Alzheimer's Disease Genetic Consortium"; ; rdfs:label "Alzheimer's Disease Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4539 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:127f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4539; "Alzheimer disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39250132+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This was a meta-analysis of genetic association studies in case-control, family-based, population-based, and longitudinal AD-related cohorts from the US Alzheimer's Disease Genetics Consortium, the Alzheimer's Disease Sequencing Project, the UK Biobank, the Finnish health registry, and the US Million Veterans Program." . _:12802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5893779/fullTextXML"; rdfs:comment "The ADGC cohorts include: Adult Changes in Thought (ACT), the Alzheimer's Disease Centers (ADC), the Chicago Health and Aging Project (CHAP), the Memory and Aging Project (MAP), Mayo Clinic (MAYO), Mayo Parkinson's Disease controls, University of Miami, the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study (MIRAGE), the National Cell Repository for Alzheimer's Disease (NCRAD), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA-LOAD), the Religious Orders Study (ROS), the Texas Alzheimer's Research and Care Consortium (TARC), Vanderbilt University/Case Western Reserve University (VAN/CWRU), the Washington Heights-Inwood Columbia Aging Project (WHICAP) and the Washington University Sequencing Project (WUSP), the Columbia University Hispanic-Estudio Familiar de Influencia Genetica de Alzheimer (EFIGA), the University of Toronto (UT), and Genetic Differences (GD)." . _:12812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11245521/fullTextXML"; rdfs:comment "Finally, the Knight-ADRC contributes data to the following genetic and genomic NIH funded initiatives: National Alzheimer Coordinating Center (NCRAD), Alzheimer Disease Genetics Consortium (ADGC), National Institute on Aging Genetics of Alzheimer’s Disease Data Storage (NIAGADs), Alzheimer Disease Neuroimaging Initiative (ADNI), Alzheimer’s Disease Sequencing Project (ADSP), Global Neurodegeneration Proteomics Consortium (GNPC), and the Alzheimer Clinical Trials Consortium (ACTC)." . _:12822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "The ADGC dataset comprises subjects from 35 datasets including two waves of the Adult Changes in Thought (ACT) cohort study [ACT1/ACT2]; ten waves of cases and cognitively normal controls from the National Institute on Aging (NIA) Alzheimer Disease Centers (ADCs); the Alzheimer Disease Neuroimaging Initiative (ADNI); the Biomarkers of Cognitive Decline Among Normal Individuals (BIOCARD) Cohort; two waves of the Religious Orders Study/Memory and Aging Project (ROSMAP1-2) and the Chicago Health and Aging Project (CHAP) cohort studies at Rush University" . _:12832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "The ADGC dataset comprises subjects from 35 datasets including two waves of the Adult Changes in Thought (ACT) cohort study [ACT1/ACT2]; ten waves of cases and cognitively normal controls from the National Institute on Aging (NIA) Alzheimer Disease Centers (ADCs); the Alzheimer Disease Neuroimaging Initiative (ADNI); the Biomarkers of Cognitive Decline Among Normal Individuals (BIOCARD) Cohort; two waves of the Religious Orders Study/Memory and Aging Project (ROSMAP1-2) and the Chicago Health and Aging Project (CHAP) cohort studies at Rush University" . _:12842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "The ADGC dataset comprises subjects from 35 datasets including two waves of the Adult Changes in Thought (ACT) cohort study [ACT1/ACT2]; ten waves of cases and cognitively normal controls from the National Institute on Aging (NIA) Alzheimer Disease Centers (ADCs); the Alzheimer Disease Neuroimaging Initiative (ADNI); the Biomarkers of Cognitive Decline Among Normal Individuals (BIOCARD) Cohort; two waves of the Religious Orders Study/Memory and Aging Project (ROSMAP1-2) and the Chicago Health and Aging Project (CHAP) cohort studies at Rush University" . _:12852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5893779/fullTextXML"; rdfs:comment "The ADGC cohorts include: Adult Changes in Thought (ACT), the Alzheimer's Disease Centers (ADC), the Chicago Health and Aging Project (CHAP), the Memory and Aging Project (MAP), Mayo Clinic (MAYO), Mayo Parkinson's Disease controls, University of Miami, the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study (MIRAGE), the National Cell Repository for Alzheimer's Disease (NCRAD), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA-LOAD), the Religious Orders Study (ROS), the Texas Alzheimer's Research and Care Consortium (TARC), Vanderbilt University/Case Western Reserve University (VAN/CWRU), the Washington Heights-Inwood Columbia Aging Project (WHICAP) and the Washington University Sequencing Project (WUSP), the Columbia University Hispanic-Estudio Familiar de Influencia Genetica de Alzheimer (EFIGA), the University of Toronto (UT), and Genetic Differences (GD)." . _:12862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5893779/fullTextXML"; rdfs:comment "The ADGC cohorts include: Adult Changes in Thought (ACT), the Alzheimer's Disease Centers (ADC), the Chicago Health and Aging Project (CHAP), the Memory and Aging Project (MAP), Mayo Clinic (MAYO), Mayo Parkinson's Disease controls, University of Miami, the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study (MIRAGE), the National Cell Repository for Alzheimer's Disease (NCRAD), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA-LOAD), the Religious Orders Study (ROS), the Texas Alzheimer's Research and Care Consortium (TARC), Vanderbilt University/Case Western Reserve University (VAN/CWRU), the Washington Heights-Inwood Columbia Aging Project (WHICAP) and the Washington University Sequencing Project (WUSP), the Columbia University Hispanic-Estudio Familiar de Influencia Genetica de Alzheimer (EFIGA), the University of Toronto (UT), and Genetic Differences (GD)." . _:12872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4154667/fullTextXML"; rdfs:comment "The ADGC collaborating studies include the Adult Changes in Thought study (ACT; Eric B. Larson, PI), the Mayo Clinic Alzheimer's Disease Research Center (MAYO; Steven G. Younkin, PI), the University of Miami Brain Endowment Bank (MBB; Deborah Mash, PI), the National Institute on Aging Late-Onset Alzheimer's Disease Family Study (NIA-LOAD; Richard Mayeux, PI), the Oregon Health & Science University Alzheimer's Disease Center (OHSU; Patricia Kramer, PI), the Religious Orders Study and Memory and Aging Project (ROSMAP; David Bennett, PI), the Translational Genomics Research Institute (TGEN; Eric Reiman, PI), the University of Pittsburgh Alzheimer's Disease Research Center (UP; Kamboh, PI), the University of Miami Hussman Institute for Human Genomics (UM; Pericak-Vance, PI), the Vanderbilt University Center for Human Genetics Research (VU; Jonathan Haines, PI), and the Mount Sinai School of Medicine (MSSM; Joseph Buxbaum PI) (see Table S16 for details; descriptive statistics found in Table S17)." . _:12882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5893779/fullTextXML"; rdfs:comment "The ADGC cohorts include: Adult Changes in Thought (ACT), the Alzheimer's Disease Centers (ADC), the Chicago Health and Aging Project (CHAP), the Memory and Aging Project (MAP), Mayo Clinic (MAYO), Mayo Parkinson's Disease controls, University of Miami, the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study (MIRAGE), the National Cell Repository for Alzheimer's Disease (NCRAD), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA-LOAD), the Religious Orders Study (ROS), the Texas Alzheimer's Research and Care Consortium (TARC), Vanderbilt University/Case Western Reserve University (VAN/CWRU), the Washington Heights-Inwood Columbia Aging Project (WHICAP) and the Washington University Sequencing Project (WUSP), the Columbia University Hispanic-Estudio Familiar de Influencia Genetica de Alzheimer (EFIGA), the University of Toronto (UT), and Genetic Differences (GD)." . _:12892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "The ADGC dataset comprises subjects from 35 datasets including two waves of the Adult Changes in Thought (ACT) cohort study [ACT1/ACT2]; ten waves of cases and cognitively normal controls from the National Institute on Aging (NIA)Alzheimer DiseaseCenters (ADCs); the Alzheimer Disease Neuroimaging Initiative (ADNI); the Biomarkers of Cognitive Decline Among Normal Individuals (BIOCARD) Cohort; two waves of the Religious Orders Study/Memory and Aging Project (ROSMAP1-2) and the Chicago Health and Aging Project (CHAP) cohort studies at Rush University; the Einstein Aging Study (EAS); the Multi-Site Collaborative Study for Genotype-Phenotype Associations in Alzheimer’s Disease (GenADA) Study by GlaxoSmithKline" . _:128a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4154667/fullTextXML"; rdfs:comment "The ADGC collaborating studies include the Adult Changes in Thought study (ACT; Eric B. Larson, PI), the Mayo Clinic Alzheimer's Disease Research Center (MAYO; Steven G. Younkin, PI), the University of Miami Brain Endowment Bank (MBB; Deborah Mash, PI), the National Institute on Aging Late-Onset Alzheimer's Disease Family Study (NIA-LOAD; Richard Mayeux, PI), the Oregon Health & Science University Alzheimer's Disease Center (OHSU; Patricia Kramer, PI), the Religious Orders Study and Memory and Aging Project (ROSMAP; David Bennett, PI), the Translational Genomics Research Institute (TGEN; Eric Reiman, PI), the University of Pittsburgh Alzheimer's Disease Research Center (UP; Kamboh, PI), the University of Miami Hussman Institute for Human Genomics (UM; Pericak-Vance, PI), the Vanderbilt University Center for Human Genetics Research (VU; Jonathan Haines, PI), and the Mount Sinai School of Medicine (MSSM; Joseph Buxbaum PI) (see Table S16 for details; descriptive statistics found in Table S17)." . _:128b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4154667/fullTextXML"; rdfs:comment "The ADGC collaborating studies include the Adult Changes in Thought study (ACT; Eric B. Larson, PI), the Mayo Clinic Alzheimer's Disease Research Center (MAYO; Steven G. Younkin, PI), the University of Miami Brain Endowment Bank (MBB; Deborah Mash, PI), the National Institute on Aging Late-Onset Alzheimer's Disease Family Study (NIA-LOAD; Richard Mayeux, PI), the Oregon Health & Science University Alzheimer's Disease Center (OHSU; Patricia Kramer, PI), the Religious Orders Study and Memory and Aging Project (ROSMAP; David Bennett, PI), the Translational Genomics Research Institute (TGEN; Eric Reiman, PI), the University of Pittsburgh Alzheimer's Disease Research Center (UP; Kamboh, PI), the University of Miami Hussman Institute for Human Genomics (UM; Pericak-Vance, PI), the Vanderbilt University Center for Human Genetics Research (VU; Jonathan Haines, PI), and the Mount Sinai School of Medicine (MSSM; Joseph Buxbaum PI) (see Table S16 for details; descriptive statistics found in Table S17)." . _:128c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5893779/fullTextXML"; rdfs:comment "The ADGC cohorts include: Adult Changes in Thought (ACT), the Alzheimer's Disease Centers (ADC), the Chicago Health and Aging Project (CHAP), the Memory and Aging Project (MAP), Mayo Clinic (MAYO), Mayo Parkinson's Disease controls, University of Miami, the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study (MIRAGE), the National Cell Repository for Alzheimer's Disease (NCRAD), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA-LOAD), the Religious Orders Study (ROS), the Texas Alzheimer's Research and Care Consortium (TARC), Vanderbilt University/Case Western Reserve University (VAN/CWRU), the Washington Heights-Inwood Columbia Aging Project (WHICAP) and the Washington University Sequencing Project (WUSP), the Columbia University Hispanic-Estudio Familiar de Influencia Genetica de Alzheimer (EFIGA), the University of Toronto (UT), and Genetic Differences (GD)." . _:128d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "The ADGC dataset comprises subjects from 35 datasets including two waves of the Adult Changes in Thought (ACT) cohort study [ACT1/ACT2]; ten waves of cases and cognitively normal controls from the National Institute on Aging (NIA)Alzheimer DiseaseCenters (ADCs); the Alzheimer Disease Neuroimaging Initiative (ADNI); the Biomarkers of Cognitive Decline Among Normal Individuals (BIOCARD) Cohort; two waves of the Religious Orders Study/Memory and Aging Project (ROSMAP1-2) and the Chicago Health and Aging Project (CHAP) cohort studies at Rush University; the Einstein Aging Study (EAS); the Multi-Site Collaborative Study for Genotype-Phenotype Associations in Alzheimer’s Disease (GenADA) Study by GlaxoSmithKline; Mayo Clinic Jacksonville (MAYO) and Rochester (RMAYO) case- control datasets; the Multi-Institutional Research in Alzheimer's Genetic Epidemiology (MIRAGE) study; the NIA Late-Onset Alzheimer’s Disease (LOAD) Family Study (NIA-LOAD); the Netherlands Brain Bank (NBB) case-control dataset; the Oregon Health and Science University(OHSU)case-controldataset;thePfizercase-controldataset;theTexasAlzheimer’s Research and Care Consortium (TARCC) dataset; the Translational Genomics Research Institute series 2 (TGEN2) dataset; the University of Miami (UM)/ Case Western Reserve University (CWRU)/ Mt. Sinai School of Medicine (MSSM) and UM/CWRU/TARCC wave 2 datasets [UM/CWRU/MSSM and UM/CWRU/TARCC2]" . _:128e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Descriptions of the ACT1, ADC waves 1-7, ADNI, BIOCARD, CHAP, EAS, GenADA, MAYO, MIRAGE, NIA-LOAD, OHSU, PFIZER, RMAYO, ROSMAP1, ROSMAP2, TARCC, TGEN2, UKS, UM/CWRU/MSSM, UM/CWRU/TARCC2, UPITT, WASHU1, WASHU2, and WHICAP cohorts were provided in previous ADGC and IGAP studies28,36–40 . Here we update descriptions of these studies, where applicable, and provide descriptions for ADC waves 8- 12, as well as the Combined Small Datasets Collection (CSDC)." . _:128f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "The ADGC dataset comprises subjects from 35 datasets including the Adult Changes in Thought (ACT) cohort study (ACT1); ten waves of cases and cognitively normal controls from the National Institute on Aging (NIA) Alzheimer Disease Centers (ADCs) and coordinated by the National Alzheimer’s Coordinating Center (NACC); the Alzheimer Disease Neuroimaging Initiative (ADNI); the Biomarkers of Cognitive Decline Among Normal Individuals (BIOCARD) Cohort; two waves of the Religious Orders Study/Memory and Aging Project (ROSMAP1-2) and the Chicago Health and Aging Project (CHAP) cohort studies at Rush University; the Einstein Aging Study (EAS); the Multi-Site Collaborative Study for Genotype-Phenotype Associations in Alzheimer’s Disease (GenADA) Study by GlaxoSmithKline; Mayo Clinic Jacksonville (MAYO) and Rochester (RMAYO) case-control datasets; the Multi-Institutional Research in Alzheimer's Genetic Epidemiology (MIRAGE) study; the NIA Late-Onset Alzheimer’s Disease (LOAD) Family Study (NIA-LOAD); the Oregon Health and Science University (OHSU) case-control dataset; the Pfizer case-control dataset; the Texas Alzheimer’s Research and Care Consortium (TARCC) dataset; the Translational Genomics Research Institute series 2 (TGEN2) dataset; the University of Miami (UM)/Case Western Reserve University (CWRU)/Mt. Sinai School of Medicine (MSSM) and UM/CWRU/TARCC wave 2 datasets [UM/CWRU/MSSM and UM/CWRU/TARCC2]; the Universitatsklinikum Saarlandes (UKS) case-control dataset; the University of Pittsburgh (UPITT) case-control dataset; Washington University (WASHU) wave 1 and 2 case-control datasets [WASHU1/WASHU2]; and the Washington Heights-Inwood Community Aging Project (WHICAP) study datasets." . _:12902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5893779/fullTextXML"; rdfs:comment "The ADGC cohorts include: Adult Changes in Thought (ACT), the Alzheimer's Disease Centers (ADC), the Chicago Health and Aging Project (CHAP), the Memory and Aging Project (MAP), Mayo Clinic (MAYO), Mayo Parkinson's Disease controls, University of Miami, the Multi-Institutional Research in Alzheimer's Genetic Epidemiology Study (MIRAGE), the National Cell Repository for Alzheimer's Disease (NCRAD), the National Institute on Aging Late Onset Alzheimer's Disease Family Study (NIA-LOAD), the Religious Orders Study (ROS), the Texas Alzheimer's Research and Care Consortium (TARC), Vanderbilt University/Case Western Reserve University (VAN/CWRU), the Washington Heights-Inwood Columbia Aging Project (WHICAP) and the Washington University Sequencing Project (WUSP), the Columbia University Hispanic-Estudio Familiar de Influencia Genetica de Alzheimer (EFIGA), the University of Toronto (UT), and Genetic Differences (GD)." . _:12912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2802/MediaObjects/41588_2013_BFng2802_MOESM27_ESM.pdf"; rdfs:comment "The ADGC dataset comprises subjects from the Adult Changes in Thought (ACT)/ Electronic Medical Records and Genetics (eMERGE) study, the National Institute on Aging (NIA) Alzheimer Disease Centers (ADCs), the Alzheimer Disease Neuroimaging Initiative (ADNI) Study, the Multi-Site Collaborative Study for Genotype-Phe- notype Associations in Alzheimers Disease (GenADA) Study, the University of Miami/Vanderbilt University/Mt. Sinai School of Medicine (UM/VU/MSSM), the MIRAGE Study" . _:12922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385320/fullTextXML"; rdfs:comment "This was a meta-analysis of genetic association studies in case-control, family-based, population-based, and longitudinal AD-related cohorts from the US Alzheimer’s Disease Genetics Consortium, the Alzheimer’s Disease Sequencing Project, the UK Biobank, the Finnish health registry, and the US Million Veterans Program." . _:12932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90654647"; "Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease."; "PMID:40676597", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40676597+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) to test for novel shared and population-specific late-onset Alzheimer's disease (LOAD) susceptibility loci" . _:12942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A US consortium that assembles genome-wide genotype data and harmonized phenotypes from many case-control, family-based, population-based and longitudinal Alzheimer disease cohorts, in more than 30 GWAS datasets of several ancestries, for genetic studies of late-onset Alzheimer disease."; "PMID:39250132", "PMID:41268768"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 24388; "individuals (stated as 'over 56,000') in the 2025 ADGC multi-ancestry GWAS meta-analysis"; "PMID:40676597"; rdfs:comment "To identify novel loci and explore differences in genetic association across these groups, the Alzheimer’s Disease Genetics Consortium (ADGC) initiated the first large-scale multi-ancestry GWAS meta-analysis with direct genotyping and either clinical evaluation of or pathological confirmation of AD status on over 56,000 individuals across four genetic similarity groups (GSGs) with diverse ancestral genetic backgrounds, including 6728 AFA, 8899 HIS, 3232 EAS, and 37,382 NHW participants." . _:12962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 31853; "individuals (stated as 'over 56,000') in the 2025 ADGC multi-ancestry GWAS meta-analysis"; "PMID:40676597"; rdfs:comment "To identify novel loci and explore differences in genetic association across these groups, the Alzheimer’s Disease Genetics Consortium (ADGC) initiated the first large-scale multi-ancestry GWAS meta-analysis with direct genotyping and either clinical evaluation of or pathological confirmation of AD status on over 56,000 individuals across four genetic similarity groups (GSGs) with diverse ancestral genetic backgrounds, including 6728 AFA, 8899 HIS, 3232 EAS, and 37,382 NHW participants." . _:12972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 56000; "individuals (stated as 'over 56,000') in the 2025 ADGC multi-ancestry GWAS meta-analysis"; "PMID:40676597"; rdfs:comment "To identify novel loci and explore differences in genetic association across these groups, the Alzheimer’s Disease Genetics Consortium (ADGC) initiated the first large-scale multi-ancestry GWAS meta-analysis with direct genotyping and either clinical evaluation of or pathological confirmation of AD status on over 56,000 individuals across four genetic similarity groups (GSGs) with diverse ancestral genetic backgrounds, including 6728 AFA, 8899 HIS, 3232 EAS, and 37,382 NHW participants." . _:12982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADGC"; . a owl:NamedIndividual, ; , , , , , , ; ; "GCST90292537"; "A sample of about 7,300 adult volunteers of mixed African, European and Native American ancestry, mostly university students and staff (and, in Chile, mainly soldiers), recruited by a consortium of Latin American and UK groups in México City, Medellín, Lima, Arica and Porto Alegre and characterised for physical appearance, facial photographs, self-perceived ancestry and genetic ancestry, with genome-wide genotyping of about 6,000 of them, to study admixture and the genetics of physical traits in Latin America."; 7342; "CANDELA", "CANDELA cohort"; ; rdfs:label "Consortium for the Analysis of the Diversity and Evolution of Latin America"@en . _:12992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4177621/fullTextXML"; rdfs:comment "Recruitment took place mainly in five locations: México City (México), Medellín (Colombia), Lima (Perú), Arica (Chile) and Porto Alegre (Brazil)." . _:129a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90292537"; "Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape."; "PMID:37156940", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10167347/fullTextXML"; rdfs:comment "The 6486 individuals examined here are part of the CANDELA cohort, collected in five Latin American countries21." . _:129b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of about 7,300 adult volunteers of mixed African, European and Native American ancestry, mostly university students and staff (and, in Chile, mainly soldiers), recruited by a consortium of Latin American and UK groups in México City, Medellín, Lima, Arica and Porto Alegre and characterised for physical appearance, facial photographs, self-perceived ancestry and genetic ancestry, with genome-wide genotyping of about 6,000 of them, to study admixture and the genetics of physical traits in Latin America."; "PMID:25254375", "PMID:27193062", "PMID:37156940"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:129c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7342; "volunteers sampled in five Latin American countries (2014)"; "PMID:25254375"; rdfs:comment "We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú)." . _:129d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CANDELA"; . a owl:NamedIndividual, ; , ; ; "GCST90435341"; "A prospective cohort of more than 150,000 adults aged 35 and over, recruited in 1998-2004 from the contiguous urban districts of Coyoacán and Iztapalapa in Mexico City with the University of Oxford, and followed to investigate known and new risk factors for mortality in people of Mexican descent; its participants have exome and genome-wide genetic data."; 159755; "MCPS", "Mexico City Prospective Cohort", "National Autonomous University of Mexico"; , ; rdfs:label "Mexico City Prospective Study"@en; rdfs:seeAlso . _:129e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906367/fullTextXML"; rdfs:comment "MCPS is a prospective cohort of more than 150,000 adults, aged at least 35 years, who were recruited between 1998 and 2004 from the contiguous urban districts of Coyoacán and Iztapalapa in Mexico City23,55." . _:129f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435341"; "Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis."; "PMID:39948438", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906367/fullTextXML"; rdfs:comment "Here, we compared CH in 136,401 participants from the Mexico City Prospective Study (MCPS) to 416,118 individuals from the UK Biobank (UKB)" . _:12a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of more than 150,000 adults aged 35 and over, recruited in 1998-2004 from the contiguous urban districts of Coyoacán and Iztapalapa in Mexico City with the University of Oxford, and followed to investigate known and new risk factors for mortality in people of Mexican descent; its participants have exome and genome-wide genetic data."; "PMID:37308787", "PMID:39948438"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 159755; "adults recruited 1998-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7618473/fullTextXML"; rdfs:comment "Of the 159,755 participants recruited, 22,364 (14%) were excluded." . _:12a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCPS"; . _:12a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "National Autonomous University of Mexico"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4577, _:genid-371333f489424440b12a13b9d98ced822608-genid4579; , ; , ; "GCST90000059"; "An occupational cohort of police officers and staff of police forces across Great Britain, enrolled from 2004 (42,112 participants by the end of 2012, most of whom attended a health screening with questionnaires, food diaries, physical and cognitive measurements and stored blood and urine), set up to evaluate possible health risks of the TETRA digital radio system and broadened to study the health of the police workforce."; 53245; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Airwave"; "AIRWAVE", "Airwave"; , ; rdfs:label "Airwave Health Monitoring Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4577 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4579 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4577; "police work"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25194498+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Airwave Health Monitoring Study was established to evaluate possible health risks associated with use of TETRA, a digital communication system used by police forces and other emergency services in Great Britain since 2001." . _:12a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4579; "use of TETRA, a digital communication system used by police forces and other emergency services in Great Britain"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25194498+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Airwave Health Monitoring Study was established to evaluate possible health risks associated with use of TETRA, a digital communication system used by police forces and other emergency services in Great Britain since 2001." . _:12a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25194498%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "a digital communication system used by police forces and other emergency services in Great Britain since 2001" . _:12a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000059"; "Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals."; "PMID:33230300", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610439/supplementaryFiles"; rdfs:comment "We thank all participants in the Airwave Health Monitoring Study." . _:12a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An occupational cohort of police officers and staff of police forces across Great Britain, enrolled from 2004 (42,112 participants by the end of 2012, most of whom attended a health screening with questionnaires, food diaries, physical and cognitive measurements and stored blood and urine), set up to evaluate possible health risks of the TETRA digital radio system and broadened to study the health of the police workforce."; "PMID:25194498"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 53245; "police officers and staff enrolled 2004-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12963709/fullTextXML"; rdfs:comment "Briefly, the study enrolled 53,245 participants between 2004 and 2015, and collected information on socio‐demographic, health, occupational and lifestyle factors via surveys and/or health screenings." . _:12aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIRWAVE"; . _:12ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Airwave"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4587, _:genid-371333f489424440b12a13b9d98ced822608-genid4589; ; , ; , ; "GCST90672046"; "A population-based cohort of a random sample of 6,188 Caucasian adults aged 35 to 75 living in Lausanne, Switzerland, extensively phenotyped and genotyped genome-wide at baseline to study the prevalence and genetic determinants of cardiovascular risk factors and the metabolic syndrome, and followed up prospectively (with its psychiatric arm PsyCoLaus) from 2003 for cardiovascular events and mortality."; 6188; "COLAUS", "CoLaus", "CoLaus Study", "Cohort Lausanne"; ; rdfs:label "Cohorte Lausannoise"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4587; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12677789/fullTextXML"; rdfs:comment "The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome." . _:12ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4589; "metabolic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12677789/fullTextXML"; rdfs:comment "The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome." . _:12ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18366642%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "In order to assess the prevalence of cardiovascular risk factors (CVRFs) in the Caucasian population of Lausanne, Switzerland, we conducted a population-based study (Colaus Study)." . _:12af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90672046"; "Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases."; "PMID:41325371", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12677789/fullTextXML"; rdfs:comment "We conducted a GWAS of urinary zinc levels in three prospective cohorts - SKIPOGH (Swiss Kidney Project on Genes in Hypertension, N = 896) [29,30], CoLaus|PsyCoLaus (Cohort Lausanne, N = 4,542) [31] and GCKD (German Chronic Kidney Disease study, N = 4,822) [32]" . _:12b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of a random sample of 6,188 Caucasian adults aged 35 to 75 living in Lausanne, Switzerland, extensively phenotyped and genotyped genome-wide at baseline to study the prevalence and genetic determinants of cardiovascular risk factors and the metabolic syndrome, and followed up prospectively (with its psychiatric arm PsyCoLaus) from 2003 for cardiovascular events and mortality."; "PMID:18366642", "PMID:38388190"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6188; "Caucasian adults aged 35-75 examined at baseline (2003-2006)"; "PMID:18366642"; rdfs:comment "Single-center, cross-sectional study including a random sample of 6,188 extensively phenotyped Caucasian subjects (3,251 women and 2,937 men) aged 35 to 75 years living in Lausanne, and genotyped using the 500 K Affymetrix chip technology." . _:12b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COLAUS"; . _:12b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoLaus"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4597, _:genid-371333f489424440b12a13b9d98ced822608-genid4599; , ; , , , , , , , , ; "GCST90102456"; "A prospective cohort of 41,513 middle-aged and older adults of white European origin, almost all aged 40–69, recruited in Melbourne, Australia, in 1990–1994 by Cancer Council Victoria and followed up face to face in 2003–2007 and by record linkage to cancer and death registries, collecting socio-demographic, lifestyle and health data to study risk factors for cancer and other chronic diseases."; 41513; "Health 2020", "MCCS"; ; rdfs:label "Melbourne Collaborative Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4597 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4599 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4597; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12490524/fullTextXML"; rdfs:comment "The MCCS was initially carried out to study a wide range of research questions, primarily the link between lifestyle and the risk of cancer and other chronic diseases (Milne et al., 2017)" . _:12b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4599; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12490524/fullTextXML"; rdfs:comment "The MCCS was initially carried out to study a wide range of research questions, primarily the link between lifestyle and the risk of cancer and other chronic diseases (Milne et al., 2017)" . _:12b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12490524/fullTextXML"; rdfs:comment "The MCCS was approved by the Human Research Ethics Committee of the Cancer Council Victoria, Melbourne, VIC, Australia, and informed consent was provided by all participants according to the Declaration of Helsinki." . _:12b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102456"; "Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival."; "PMID:34996992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8741984/fullTextXML"; rdfs:comment "the Melbourne Collaborative Cohort Study (MCCS)41" . _:12b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 41,513 middle-aged and older adults of white European origin, almost all aged 40–69, recruited in Melbourne, Australia, in 1990–1994 by Cancer Council Victoria and followed up face to face in 2003–2007 and by record linkage to cancer and death registries, collecting socio-demographic, lifestyle and health data to study risk factors for cancer and other chronic diseases."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12490524/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 41513; "adults recruited at baseline 1990-1994"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12490524/fullTextXML"; rdfs:comment "We used data from the Melbourne Collaborative Cohort Study (MCCS), a prospective study that recruited 41,513 middle-aged and older Australians (99 % aged between 40 and 69 years, 59 % females) of white European origin between 1990 and 1994 (baseline) (Milne et al., 2017)." . _:12ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4606; ; , ; "GCST90797639"; "A Dutch prospective cohort study, run in the North of the Netherlands, consisting of a population cohort of 2,230 children born between October 1989 and September 1991 and a clinical cohort of 543 children referred to child psychiatric outpatient care before age 11, followed from about age 11 into young adulthood with repeated assessments of mental health, social development and physical health."; 2230; "TRAILS", "Tracking Adolescents Individual Lives Survey"; ; rdfs:label "TRacking Adolescents' Individual Lives Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4606 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4606; "mental disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339762/fullTextXML"; rdfs:comment "the overall objective of TRAILS is ‘to contribute to the understanding of the determinants of adolescents’ mental (ill-)health and social development during adolescence and young adulthood, as well as the mechanisms underlying the associations between determinants and outcomes’" . _:12bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339762/fullTextXML"; rdfs:comment "The population cohort includes participants born between 1 October 1989 and 30 September 1991, who lived in the North of The Netherlands at the time of the baseline assessment in 2001/02." . _:12bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/fullTextXML"; rdfs:comment "A.J.O. has received research funding from the Netherlands Organisation for Scientific Research and the Biobanking and Biomolecular Resources Research Infrastructure to support the TRAILS cohort" . _:12be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch prospective cohort study, run in the North of the Netherlands, consisting of a population cohort of 2,230 children born between October 1989 and September 1991 and a clinical cohort of 543 children referred to child psychiatric outpatient care before age 11, followed from about age 11 into young adulthood with repeated assessments of mental health, social development and physical health."; "PMID:25431468"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2230; "children in the population cohort at wave 1 (clinical cohort of 543 in addition), 2001"; "PMID:25431468"; rdfs:comment "TRAILS consists of a population cohort (N=2230) and a clinical cohort (N=543), both of which were followed from about age 11 years onwards." . _:12c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRAILS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4613; , ; ; "GCST90429799"; "A population-based longitudinal cohort of 2,082 Danish adults at different levels of diabetes risk, sampled from the 16,136 high-risk individuals identified by the 2001–2006 stepwise diabetes screening programme in Danish general practice of the Danish arm of ADDITION-Europe, examined in 2009–2011 with detailed cardiometabolic phenotyping and followed for cardiovascular disease and death."; 2082; "ADDITION-PRO", "ADDITION-PRO cohort"; ; rdfs:label "ADDITION-PRO Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4613 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4613; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23241242+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ADDITION-PRO is a population-based, longitudinal cohort study of individuals at high risk for diabetes." . _:12c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23241242+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "16,136 eligible individuals were identified at high risk following participation in a stepwise screening programme in Danish general practice between 2001 and 2006." . _:12c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3583712/fullTextXML"; rdfs:comment "The ADDITION-PRO study is nested within the Danish arm (ADDITION-DK) of the ADDITION-Europe study [3,8]." . _:12c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90429799"; "Genome-wide association study identifies host genetic variants influencing oral microbiota diversity and metabolic health."; "PMID:38926497", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38926497+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using data from 16S rRNA gene amplicon sequencing, we performed genome-wide association studies with univariate and multivariate traits of the salivary microbiota from 610 unrelated adults from the Danish ADDITION-PRO cohort." . _:12c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of 2,082 Danish adults at different levels of diabetes risk, sampled from the 16,136 high-risk individuals identified by the 2001–2006 stepwise diabetes screening programme in Danish general practice of the Danish arm of ADDITION-Europe, examined in 2009–2011 with detailed cardiometabolic phenotyping and followed for cardiovascular disease and death."; "PMID:23241242"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2082; "participants attending the 2009-2011 health assessment"; "PMID:23241242"; rdfs:comment "All individuals with impaired glucose regulation at screening, those who developed diabetes following screening, and a random sub-sample of those at lower levels of diabetes risk were invited to attend a follow-up health assessment in 2009–2011 (n = 4,188), of whom 2,082 (50%) attended." . _:12c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION-PRO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4621; , ; ; "GCST90179153"; "A clinical cohort of about 4,500 patients scheduled for an exercise stress test at Tampere University Hospital, Finland, recruited between October 2001 and December 2007 with continuous high-resolution ECG, haemodynamic measurements, genotyping and follow-up of clinical events and deaths, to construct risk profiles for cardiovascular disease, events and death."; 4178; "FINCAVAS"; ; rdfs:label "Finnish Cardiovascular Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4621 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4621; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16515696+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The purpose of the Finnish Cardiovascular Study (FINCAVAS) is to construct a risk profile--using genetic, haemodynamic and electrocardiographic (ECG) markers--of individuals at high risk of cardiovascular diseases, events and deaths." . _:12c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16515696+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All patients scheduled for an exercise stress test at Tampere University Hospital and willing to participate have been and will be recruited between October 2001 and December 2007." . _:12ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90179153"; "Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways."; "PMID:36050321", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436946/supplementaryFiles"; rdfs:comment "The purpose of the Finnish Cardiovascular Study (FINCAVAS) is to construct a risk profile" . _:12cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical cohort of about 4,500 patients scheduled for an exercise stress test at Tampere University Hospital, Finland, recruited between October 2001 and December 2007 with continuous high-resolution ECG, haemodynamic measurements, genotyping and follow-up of clinical events and deaths, to construct risk profiles for cardiovascular disease, events and death."; "PMID:16515696", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436946/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4178; "patients recruited for exercise testing, October 2001 - December 2008 (2001-2008)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6330693/fullTextXML"; rdfs:comment "A study population of 4178 patients (2537 men and 1641 women) was recruited." . _:12cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FINCAVAS"; . a owl:NamedIndividual, ; , ; , , , , , , , , ; "GCST90292534", "PGS000148"; "A prospective cohort of 51,529 US male health professionals aged 40 to 75 enrolled in 1986, whose demographics, health, diet and lifestyle are updated by questionnaire every two years (diet every four), with follow-up exceeding 90% of eligible person-time."; "The acronym Harvard also denotes Mass General Brigham Biobank (COHO:0000383), Nurses' Health Study (COHO:0000456) and Nurses' Health Study II (COHO:0000619); this term is Health Professionals Follow-up Study."@en; 51529; "HPFS", "HPFS3", "Harvard", "Health Professional Follow-up Study"; , ; rdfs:label "Health Professionals Follow-up Study"@en . _:12ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33185675+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants included US male health professionals aged 40 to 75 years at enrollment." . _:12cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90292534"; "Sex differences in the polygenic architecture of hearing problems in adults."; "PMID:37165447", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37165447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Leveraging the UK Biobank, the Nurses' Health Studies (I and II), the Health Professionals Follow-up Study, and the Million Veteran Program, we conducted a comprehensive genome-wide investigation of HP in 748,668 adult participants" . _:12d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000148"; "Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors."; "PMID:29458155" . _:12d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 51,529 US male health professionals aged 40 to 75 enrolled in 1986, whose demographics, health, diet and lifestyle are updated by questionnaire every two years (diet every four), with follow-up exceeding 90% of eligible person-time."; "PMID:33185675", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10173489/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 51529; "male health professionals enrolled in 1986"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10173489/fullTextXML"; rdfs:comment "The HPFS began in 1986 and enrolled 51,529 male health professionals, aged 40 to 75 years [18]." . _:12d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPFS"; . _:12d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPFS3"; . _:12d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harvard"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4636; , ; "GCST90034520"; "A Greek collection of more than 1,500 well-phenotyped patients with severe hip or knee osteoarthritis undergoing total joint replacement, recruited in hospitals of Athens (2015-2017) and Larissa together with healthy controls, set up to study the genetic architecture of osteoarthritis."; 1500; "ARGO", "Arthroplasty and the Genetics of Osteoarthritis"; ; rdfs:label "ARGO study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4636; "osteoarthritis"; "https://metadata.ega-archive.org/studies/EGAS00001000917"; rdfs:comment "The ARGO study is an ongoing collection of well-phenotyped OA patients undergoing total joint replacement and is based in Greece." . _:12d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "More than 1,500 patients with severe OA, undergoing hip and/or knee total joint replacement were recruited from the cities of Athens and Larissa." . _:12d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90034520"; "Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations."; "PMID:34450027", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "The ARGO study, was set up to investigate the genetic architecture of hip and knee OA in a Greek population." . _:12d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Greek collection of more than 1,500 well-phenotyped patients with severe hip or knee osteoarthritis undergoing total joint replacement, recruited in hospitals of Athens (2015-2017) and Larissa together with healthy controls, set up to study the genetic architecture of osteoarthritis."; "PMID:30470734", "PMID:34450027", "https://metadata.ega-archive.org/studies/EGAS00001000917"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1500; "severe-OA patients undergoing joint replacement, Athens and Larissa (stated as more than 1,500; controls not included), 2017"; "PMID:34450027"; rdfs:comment "More than 1,500 patients with severe OA, undergoing hip and/or knee total joint replacement were recruited from the cities of Athens and Larissa." . _:12db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARGO"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-23. KARE, the Korea Association Resource, is another name for the KoGES Ansan and Ansung Study (COHO:0000530), not a separate cohort or a genotyped sub-cohort of it: the KoGES profile calls the study's genome-wide data KARE, the papers tagged KARE describe the KARE cohort as the Ansan and Anseong cohort, and the KARE, Ansan and Ansung tags all denote that one cohort (src/curation/catalog_cohorts_tier_b_check.csv). Replaced by COHO:0000530, which carries the acronym KARE and the KARE names."@en; rdfs:label "obsolete Korea Association Resource"@en; owl:deprecated true . a owl:NamedIndividual, ; , , ; , ; "GCST90244003"; "A community-based prospective cohort of 10,030 men and women aged 40–69 from the urban city of Ansan and the rural town of Ansung (Anseong) in Gyeonggi Province, South Korea, recruited in 2001–2002 as the first cohort of the Korean Genome and Epidemiology Study and re-surveyed every two years, to study common chronic diseases and their genetic and environmental risk factors."; 10030; "Ansan", "Ansan Study", "Ansan and Ansung cohort study", "Ansan-Ansung cohort", "Ansan/Ansung", "Ansan/Ansung cohort", "Ansan/Ansung study", "Anseong and Ansan cohort", "Anseong and Ansan cohort study", "Ansung", "Ansung Study", "Ansung/Ansan cohorts", "KARE", "KARE cohort", "KoGES_Ansan and Ansung study", "Korea Associated Resource", "Korea Association Resource", "Korea Association Resource project cohort", "Korean Association Resource", "Korean Association Resource Project", "Korean Genome and Epidemiology Study Ansan and Ansung", "Korean Genome and Epidemiology Study Ansan-Anseong cohort"; ; rdfs:label "Ansan and Ansung Study"@en . _:12dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36573383+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Baseline participants were 10,030 subjects aged 40 to 69 years who were from Ansan or Anseong in Gyeonggi-do, South Korea." . _:12dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244003"; "The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians."; "PMID:36333282", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9636136/fullTextXML"; rdfs:comment "In the three population-based cohorts, 10,030, 173,357, and 28,338 participants were independently recruited from the KoGES_Ansan and Ansung study, the KoGES_health examinee (HEXA) study and the KoGES_cardiovascular disease association study (CAVAS), respectively." . _:12de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort of 10,030 men and women aged 40–69 from the urban city of Ansan and the rural town of Ansung (Anseong) in Gyeonggi Province, South Korea, recruited in 2001–2002 as the first cohort of the Korean Genome and Epidemiology Study and re-surveyed every two years, to study common chronic diseases and their genetic and environmental risk factors."; "PMID:27085081", "PMID:36573383", "PMID:41373836"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10030; "baseline participants recruited 2001-2002"; "PMID:27085081"; rdfs:comment "Out of the 10 030 baseline participants, 633 cumulative deaths were recorded between baseline and the 5th follow-up (2001 to 2012), and the 6th follow-up was conducted in 5906 participants (out of 9397 survivor; Figure 1, and Supplementary Figure 1, available as Supplementary data at IJE online)." . _:12e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ansan"; . _:12e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ansung"; . _:12e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KARE"; . a owl:NamedIndividual, ; , , ; ; "GCST90624113"; "A population-based prospective cohort of about 9,800 residents aged 30–74 years of Nagahama City, a largely rural city in Shiga Prefecture, central Japan, recruited in 2008–2010 and run from Kyoto University Graduate School of Medicine, with blood samples, questionnaires, health examinations, genotyping and follow-up examinations (the first in 2013–2016) for genomic and clinical research."; 9809; "Nagahama", "Nagahama Prospective Genome Cohort for Comprehensive Human Bioscience", "Nagahama Prospective Genome Cohort for the Comprehensive Human Bioscience", "Nagahama Study", "Nagahama cohort", "Nagahama_Study"; ; rdfs:label "Nagahama Prospective Cohort for Comprehensive Human Bioscience"@en . _:12e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4622045/fullTextXML"; rdfs:comment "This study cohort was recruited from the general population living in Nagahama city, a largely rural city of 125,000 inhabitants in Shiga prefecture, located in the center of Japan." . _:12e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624113"; "A genome-wide association between foveal thickness and arrhythmia."; "PMID:40877534", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40877534+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genome-wide association study (GWAS) and replication studies were conducted in 9850 individuals from the Nagahama Study (from 2013 to 2016) and 935 individuals from the Hisayama Study." . _:12e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of about 9,800 residents aged 30–74 years of Nagahama City, a largely rural city in Shiga Prefecture, central Japan, recruited in 2008–2010 and run from Kyoto University Graduate School of Medicine, with blood samples, questionnaires, health examinations, genotyping and follow-up examinations (the first in 2013–2016) for genomic and clinical research."; "PMID:26444713", "PMID:28278155", "PMID:40877534"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9809; "residents aged 30-74 who participated at baseline (2008-2010)"; "PMID:26444713"; rdfs:comment "A total of 9,809 residents voluntarily participated in the study." . _:12e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nagahama"; . _:12e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nagahama Study"; . _:12e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nagahama_Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4657; ; "GCST90103632"; "An international collaborative consortium, co-directed by Anna Köttgen and Cristian Pattaro with its data hosted at the University of Freiburg, that meta-analyses genome-wide association results from many, mostly population-based, studies to investigate the genetic basis of kidney function and disease, releasing summary statistics for markers such as estimated glomerular filtration rate and blood urea nitrogen."; 765348; "CKD Genetics Consortium", "CKD-Gen Consortium", "CKDGen", "CKDGen Consortium", "Chronic Kidney Disease Genetics (CKDGen) Consortium", "Chronic Kidney Disease genetics", "Chronic Kidney Diseases Genetics Consortium"; ; rdfs:label "Chronic Kidney Disease Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4657 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4657; "chronic kidney disease"; "https://ckdgen.imbi.uni-freiburg.de/"; rdfs:comment "The CKDGen Consortium is an international collaborative effort dedicated to the investigation of the genetic underpinnings of kidney function and disease" . _:12eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0407-x/MediaObjects/41588_2019_407_MOESM4_ESM.xlsx"; rdfs:comment "LIFE-Child | LIFE-Child | | Convenience sample | 28144813" . _:12ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103632"; "Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals."; "PMID:34272381", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34272381%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "By GWAS meta-analysis for creatinine-based estimated glomerular filtration rate (eGFR) from the Chronic Kidney Disease Genetics Consortium and UK Biobank (n = 1,201,909), we expand the number of eGFRcrea loci (424 loci, 201 novel; 9.8% eGFRcrea variance explained by 634 independent signal variants)." . _:12ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaborative consortium, co-directed by Anna Köttgen and Cristian Pattaro with its data hosted at the University of Freiburg, that meta-analyses genome-wide association results from many, mostly population-based, studies to investigate the genetic basis of kidney function and disease, releasing summary statistics for markers such as estimated glomerular filtration rate and blood urea nitrogen."; "https://ckdgen.imbi.uni-freiburg.de/", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8285412/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 765348; "individuals in 121 GWAS of the 2019 trans-ancestry eGFR discovery meta-analysis"; "PMID:31152163"; rdfs:comment "We performed 121 GWAS encompassing 765,348 individuals of European (n = 567,460), East Asian (n = 165,726), African-American (n = 13,842), South Asian (n = 13,359) and Hispanic (n = 4,961) ancestry (median age, 54 years; 50% female; Supplementary Table 1)." . _:12ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CKDGen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4664; , ; , , ; ; "GCST90239583", "PGS005279"; "A Japanese genome cohort project launched after the 2011 Great East Japan Earthquake and run by the Tohoku Medical Megabank Organization of Tohoku University and the Iwate Tohoku Medical Megabank Organization of Iwate Medical University, comprising two prospective cohorts in Miyagi and Iwate Prefectures, the TMM Community-Based Cohort Study of adults and the TMM Birth and Three-Generation Cohort Study, with an integrated biobank of health information, biospecimens and genome and omics data."; "The acronym TMM also denotes Tohoku Medical Megabank Community-Based Cohort Study (COHO:0000938) and Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (COHO:0000939); this term is Tohoku Medical Megabank Project."@en; 157000; "IMM", "Iwate Tohoku Medical Megabank", "Iwate Tohoku Medical Megabank Organization", "TMM", "The Tonhoku Medical Megabank Organisations", "ToMMo", "Tohoku Medical Megabank", "Tohoku Medical Megabank Organization", "Tohoku University Tohoku Medical Megabank Organization", "Tohoku University, Tohoku Medical Megabank Organization", "Tonhoku"; , , ; rdfs:label "Tohoku Medical Megabank Project"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid4664 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4664; "Great East Japan Earthquake and tsunami"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5008970/fullTextXML"; rdfs:comment "The aims of TMM cohort studies are: 1) to monitor the effects of the damage caused by the GEJE on health status in the affected areas" . _:12f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7738642/fullTextXML"; rdfs:comment "To overcome the above-mentioned issues, we established the Tohoku Medical Megabank (TMM) Project, which is conducted by Tohoku University Tohoku Medical Megabank Organization (ToMMo) and Iwate Medical University Iwate Tohoku Medical Megabank Organization (IMM).9 We decided to conduct the TMM Project in Miyagi and Iwate Prefectures and started two prospective cohort studies in Miyagi and Iwate Prefectures: a population-based adult cohort study, the TMM Community-Based Cohort Study (TMM CommCohort Study), which recruited more than 80,000 participants, and a birth and three-generation cohort study, the TMM Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study), which recruited more than 70,000 participants, including fetuses and their parents, siblings, grandparents, and extended family members.10" . _:12f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7738642/fullTextXML"; rdfs:comment "To overcome the above-mentioned issues, we established the Tohoku Medical Megabank (TMM) Project, which is conducted by Tohoku University Tohoku Medical Megabank Organization (ToMMo) and Iwate Medical University Iwate Tohoku Medical Megabank Organization (IMM).9 We decided to conduct the TMM Project in Miyagi and Iwate Prefectures and started two prospective cohort studies in Miyagi and Iwate Prefectures: a population-based adult cohort study, the TMM Community-Based Cohort Study (TMM CommCohort Study), which recruited more than 80,000 participants, and a birth and three-generation cohort study, the TMM Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study), which recruited more than 70,000 participants, including fetuses and their parents, siblings, grandparents, and extended family members.10" . _:12f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13175889/fullTextXML"; rdfs:comment "These people were recruited from health checkups conducted in two prefectures of Northeastern Japan: Miyagi (n = 32,459) and Iwate (n = 20,906)." . _:12f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239583"; "Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study."; "PMID:36246171", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36246171+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In total, 33 483 participants aged > 18 years who were recruited into the community-based cohort (CommCohort) and the birth and three-generation cohort (BirThree Cohort) of the ToMMo Eye Study were examined." . _:12f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005279"; "Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study."; "PMID:39174808" . _:12f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Japanese genome cohort project launched after the 2011 Great East Japan Earthquake and run by the Tohoku Medical Megabank Organization of Tohoku University and the Iwate Tohoku Medical Megabank Organization of Iwate Medical University, comprising two prospective cohorts in Miyagi and Iwate Prefectures, the TMM Community-Based Cohort Study of adults and the TMM Birth and Three-Generation Cohort Study, with an integrated biobank of health information, biospecimens and genome and omics data."; "PMID:27374138"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:12f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 157000; "individuals who participated in the TMM cohort studies (stated as more than 157 000), 2016"; "PMID:36246171"; rdfs:comment "More than 157 000 individuals voluntarily participated in the TMM study by March 2016, and approximately 33 000 individuals received detailed physiological examinations, including ophthalmic examination." . _:12f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMM"; . _:12f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM"; . _:12fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ToMMo"; . _:12fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tohoku Medical Megabank"; . _:12fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tohoku University, Tohoku Medical Megabank Organization"; . _:12fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tonhoku"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4679; , ; , ; "GCST90321087", "PGS000742"; "A prostate cancer study run at the Fred Hutchinson Cancer Center that comprises two population-based case-control studies in King County, Washington, whose cases, identified through the Seattle-Puget Sound SEER cancer registry, were men aged 40–64 diagnosed in 1993–1996 and men aged 35–74 diagnosed in 2002–2005, and whose controls without prostate cancer were found by random-digit dialling and frequency-matched to cases by age; its genotyped samples contribute to the PRACTICAL consortium."; "The acronym FHCRC also denotes Whole Genome Association Analysis of Hematopoietic Cell Transplant (HCT) Outcomes (COHO:0000535); this term is Fred Hutchinson Prostate Cancer Study."@en; 1754; 1645; "FH", "FHCRC", "Fred Hutchinson Cancer Center Prostate Cancer Study", "Fred Hutchinson Cancer Research Center, Seattle US", "KCPCS", "King County (Washington) Prostate Cancer Studies", "King County Prostate Cancer Studies"; , ; rdfs:label "Fred Hutchinson Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4679 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:12fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4679; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5510189/fullTextXML"; rdfs:comment "This study included 383 men of European American ancestry from the Fred Hutchinson (FH) Cancer Research Center cohort who were diagnosed with clinically localized PCa and underwent RP as primary treatment." . _:12ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10592169/unicode"; rdfs:comment "The FH Study included 402 European-American male residents of King County, Washington, aged 35–74 years and diagnosed with prostate cancer either in 1993–1996 or in 2002–2005, and underwent radical prostatectomy as primary treatment for clinically localized disease." . _:13002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90321087"; "Germline Genetic Variants Associated with Somatic TMPRSS2:ERG Fusion Status in Prostate Cancer: A Genome-Wide Association Study."; "PMID:37555839", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37555839+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study with 396 TMPRSS2:ERG(+) cases, 390 TMPRSS2:ERG(-) cases, and 2,386 cancer-free controls from the Physicians' Health Study (PHS), the Health Professionals Follow-up Study (HPFS), and a Seattle-based Fred Hutchinson (FH) Cancer Center Prostate Cancer Study." . _:13012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:13022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prostate cancer study run at the Fred Hutchinson Cancer Center that comprises two population-based case-control studies in King County, Washington, whose cases, identified through the Seattle-Puget Sound SEER cancer registry, were men aged 40–64 diagnosed in 1993–1996 and men aged 35–74 diagnosed in 2002–2005, and whose controls without prostate cancer were found by random-digit dialling and frequency-matched to cases by age; its genotyped samples contribute to the PRACTICAL consortium."; "PMID:17700570", "PMID:28145099", "PMID:37555839"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1754; "interviewed cases and controls of Study I (1993-1996) and Study II (2002-2005); no stated total"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2707085/"; rdfs:comment "Overall, 2,244 eligible prostate cancer patients were identified, 1,754 (78.2%) were interviewed, and blood samples yielding sufficient DNA for genotyping were drawn from 1,457 (83.1%) cases who completed a study interview." . _:13042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1645; "interviewed cases and controls of Study I (1993-1996) and Study II (2002-2005); no stated total"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2707085/"; rdfs:comment "A total of 2,448 men were identified who met the eligibility criteria, 1,645 (67.2%) were interviewed and of these men blood samples were drawn and DNA prepared from 1,352 (82.2%) using standard protocols." . _:13052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH"; . _:13062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHCRC"; . _:13072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4690, _:genid-371333f489424440b12a13b9d98ced822608-genid4692; , ; "GCST90102555"; "A retrospective cohort of patients with a haematological malignancy or myelodysplastic syndrome who had a first allogeneic haematopoietic cell transplant at the Fred Hutchinson Cancer Research Center and Seattle Cancer Care Alliance from 1990 to 2011, together with their donors, genotyped to find variants associated with graft-versus-host disease, recurrent malignancy and other complications after transplantation."; "The acronym FHCRC also denotes Fred Hutchinson Prostate Cancer Study (COHO:0000534); this term is Whole Genome Association Analysis of Hematopoietic Cell Transplant (HCT) Outcomes."@en; 9088; "FHCRC", "FHCRC study cohort", "Fred Hutch cohort", "STAMPEED: Whole Genome Association Analysis of Hematopoietic Cell Transplant (HCT) Outcomes"; ; rdfs:label "Whole Genome Association Analysis of Hematopoietic Cell Transplant (HCT) Outcomes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4690 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4692 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4690; "myelodysplasia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9043943/fullTextXML"; rdfs:comment "Indications for HCT included hematological malignancy or myelodysplasia." . _:13092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4692; "hematological malignancy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9043943/fullTextXML"; rdfs:comment "Indications for HCT included hematological malignancy or myelodysplasia." . _:130a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001918.v1.p1"; rdfs:comment "The study population represents a large cohort from the Fred Hutchinson Cancer Research Center and consists of 4,471 recipients and 4,628 donors containing 4,258 recipient-donor pairs." . _:130b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102555"; "Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation."; "PMID:34996099", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9043943/fullTextXML"; rdfs:comment "The FHCRC study cohort included 4270 recipients of European ancestry who had a first allogeneic HCT with marrow or growth factor-mobilized blood cells at the Fred Hutchinson Cancer Research Center and Seattle Cancer Care Alliance from 1990 through 2011." . _:130c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retrospective cohort of patients with a haematological malignancy or myelodysplastic syndrome who had a first allogeneic haematopoietic cell transplant at the Fred Hutchinson Cancer Research Center and Seattle Cancer Care Alliance from 1990 to 2011, together with their donors, genotyped to find variants associated with graft-versus-host disease, recurrent malignancy and other complications after transplantation."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9043943/fullTextXML", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001918.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:130d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9088; "consented subjects in dbGaP phs001918.v1 (transplant recipients and their donors)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001918.v1.p1"; rdfs:comment "Total number of consented subjects: 9088" . _:130e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHCRC"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , , ; "GCST90256400"; "A collaborative consortium that combines genome-wide association and exome-array data from many cohorts of individuals without diabetes in meta-analyses of glycaemic traits (fasting glucose, fasting insulin, 2-hour glucose and HbA1c) and measures of insulin secretion and sensitivity, to find loci influencing glycaemic and metabolic traits, and releases its summary results."; "The acronym MAGIC also denotes Molecular Genetics of Adverse Drug Reactions in Childhood Study (COHO:0000537); this term is Meta-Analyses of Glucose and Insulin-related traits Consortium."@en; 281416; "MAGIC", "Meta-Analyses of Glucose and Insulin-related Traits Consortium", "Meta-Analysis of Glucose and Insulin-related traits Consortium"; ; rdfs:label "Meta-Analyses of Glucose and Insulin-related traits Consortium"@en . _:130f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "AGES" . _:13102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Jackson Heart Study (JHS)" . _:13112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Cardiovascular Health Study (CHS)" . _:13122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Framingham Heart Study (FHS)" . _:13132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Hispanic Community Health Study/Study of Latinos (HCHS/SOL)" . _:13142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Metabolic Sydrome in Met (METSIM)" . _:13152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Netherlands Epidemiology of Obesity (NEO)" . _:13162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The Mount Sinai BioMe Biobank is supported by The Andrea and Charles Bronfman Philanthropies." . _:13172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Cleveland Family Study (CFS)" . _:13182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484788/supplementaryFiles"; rdfs:comment "We thank participants in deCODE genetic studies whose contribution made this work possible." . _:13192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Healthy Aging in Neighborhoods of Diversity across the Life Span (HANDLS)" . _:131a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Ludwigshafen Risk and Cardiovascular Health (LURIC)" . _:131b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3433394/fullTextXML"; rdfs:comment "AMC-PAS: AMC-PAS is grateful to M.D. Trip and S. Sivapalaratnam for their input in collecting the data." . _:131c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484788/supplementaryFiles"; rdfs:comment "Airwave" . _:131d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484788/supplementaryFiles"; rdfs:comment "BRIGHT" . _:131e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "London Life Science Prospective Population Study (LOLIPOP) IA610" . _:131f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles#EMS120610-supplement-Supplementary_Tables.xlsx"; rdfs:comment "Epihealth | European | Sweden | Population-based | 23435790 | https://www.epihealth.se/ | No | GWAS | No | Fasting plasma" . _:13202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "IMPROVE | European | Finland, Sweden, The Netherlands, France, Italy | Cohort of subjects with at least three vascular risk factors | 19952003 22999719 23825364" . _:13212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2922003/"; rdfs:comment "17 follow-up studies (Amish, BotniaPPP, CHSstage3, DIAGEN, ELY, FrenchFamilyMembers, FrenchHaguenau, FrenchObeseAdults, FUSIONstage2, Hertfordshire, Inter99, METSIM, NHANES, RISC, Roche, ULSAM, Whitehall II)" . _:13222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Stockhold Coronary Artery Risk Factor study/Stockholm Heart Epidemiology Programme (SCARFSHEEP) | European | Sweden | myocardial infarction case control" . _:13232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Whitehall II | European | UK | Population-based" . _:13242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90256400"; "Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization."; "PMID:39280063", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399760/fullTextXML"; rdfs:comment "MAGIC (Meta-Analysis of Glucose and Insulin-related traits Consortium) was established to focus on the genetic analysis of glycemic traits in individuals without diabetes." . _:13252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative consortium that combines genome-wide association and exome-array data from many cohorts of individuals without diabetes in meta-analyses of glycaemic traits (fasting glucose, fasting insulin, 2-hour glucose and HbA1c) and measures of insulin secretion and sensitivity, to find loci influencing glycaemic and metabolic traits, and releases its summary results."; "https://magicinvestigators.org/", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399760/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 281416; "individuals without diabetes in the 2021 trans-ancestry glycaemic-trait GWAS meta-analysis (up to)"; "PMID:34059833"; rdfs:comment "Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available." . _:13272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAGIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4724, _:genid-371333f489424440b12a13b9d98ced822608-genid4726; , ; "GCST90267543"; "A UK study of the molecular genetics of adverse drug reactions in children, recruiting carefully phenotyped retrospective cohorts of treated children at UK hospitals; its cisplatin cohort comprises platinum-treated paediatric cancer patients recruited between 2012 and 2018 at eight UK sites for genetic studies of ototoxicity."; "The acronym MAGIC also denotes Meta-Analyses of Glucose and Insulin-related traits Consortium (COHO:0000536); this term is Molecular Genetics of Adverse Drug Reactions in Childhood Study."@en; 248; "MAGIC", "Molecular Genetics of Adverse Drug Reactions in Children Study", "UK-MAGIC", "United Kingdom MAGIC", "United Kingdom Molecular Genetics of Adverse Drug Reactions in Children Study"; ; rdfs:label "Molecular Genetics of Adverse Drug Reactions in Childhood Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4724 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4726 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4724; "pediatric cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The United Kingdom MAGIC study cohort was a retrospective cohort of platinum-treated pediatric cancer patients recruited between January 2012 and March 2018 at eight United Kingdom sites" . _:13292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4726; "platinum-induced ototoxicity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The United Kingdom MAGIC study cohort was a retrospective cohort of platinum-treated pediatric cancer patients recruited between January 2012 and March 2018 at eight United Kingdom sites" . _:132a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The United Kingdom MAGIC study cohort was a retrospective cohort of platinum-treated pediatric cancer patients recruited between January 2012 and March 2018 at eight United Kingdom sites" . _:132b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267543"; "Genome-wide analyses of platinum-induced ototoxicity in childhood cancer patients: Results of GO-CAT and United Kingdom MAGIC consortia."; "PMID:36699085", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:36699085%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Therefore, a genome-wide association study was performed in the Genetics of Childhood Cancer Treatment (GO-CAT) cohort (n = 261) and the United Kingdom Molecular Genetics of Adverse Drug Reactions in Children Study (United Kingdom MAGIC) cohort (n = 248)." . _:132c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK study of the molecular genetics of adverse drug reactions in children, recruiting carefully phenotyped retrospective cohorts of treated children at UK hospitals; its cisplatin cohort comprises platinum-treated paediatric cancer patients recruited between 2012 and 2018 at eight UK sites for genetic studies of ototoxicity."; "PMID:28445188", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:132d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 248; "platinum-treated children of the MAGIC cisplatin cohort in the GWAS (a subset of the whole study), 2018"; "PMID:36699085"; rdfs:comment "Therefore, a genome-wide association study was performed in the Genetics of Childhood Cancer Treatment (GO-CAT) cohort (n = 261) and the United Kingdom Molecular Genetics of Adverse Drug Reactions in Children Study (United Kingdom MAGIC) cohort (n = 248)." . _:132e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAGIC"; . _:132f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK-MAGIC"; . a owl:NamedIndividual, ; ; , ; "GCST90244092"; "A pregnancy cohort in Western Australia for which 2,900 pregnant women were recruited between 1989 and 1991 at King Edward Memorial Hospital, Perth, and nearby private clinics, with the mothers (Generation 1) and their 2,868 offspring (Generation 2) followed from 18 weeks' gestation through childhood and adolescence into adulthood, to study how early life shapes later health and behaviour."; 2900; "RAINE", "Raine", "TRS", "The Raine Study", "Western Australian Pregnancy Cohort (Raine) Study", "Western Australian Pregnancy Cohort Study"; ; rdfs:label "Raine Study"@en . _:13302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12873190/fullTextXML"; rdfs:comment "The Raine Study is a well-characterised pregnancy cohort located in Western Australia." . _:13312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244092"; "Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk."; "PMID:36914875", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10011137/fullTextXML"; rdfs:comment "Next, we meta-analyzed two EUR-ancestry children’s cohorts—ALSPAC and Raine Study (age, 13–15 yr, n = 6,070)—to obtain effect estimates in children at the new lead SNPs." . _:13322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pregnancy cohort in Western Australia for which 2,900 pregnant women were recruited between 1989 and 1991 at King Edward Memorial Hospital, Perth, and nearby private clinics, with the mothers (Generation 1) and their 2,868 offspring (Generation 2) followed from 18 weeks' gestation through childhood and adolescence into adulthood, to study how early life shapes later health and behaviour."; "PMID:28064197", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12873190/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2900; "pregnant women enrolled 1989-1991 (Generation 1); their 2868 live-born offspring are the index participants"; "PMID:28064197"; rdfs:comment "A total of 2900 women (‘Generation 1’) were enrolled into the study." . _:13342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAINE"; . _:13352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Raine"; . _:13362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4741, _:genid-371333f489424440b12a13b9d98ced822608-genid4743, _:genid-371333f489424440b12a13b9d98ced822608-genid4745; ; , , , ; , ; "GCST90102434"; "A randomised, double-blind, placebo-controlled trial population of 5,804 men and women aged 70 to 82 with pre-existing vascular disease or risk factors for it, screened in Scotland, Ireland and the Netherlands and randomised to pravastatin 40 mg/day or placebo for about 3.2 years to test whether statin treatment reduces coronary and cerebrovascular events in the elderly."; 5804; "PROSPER"; ; rdfs:label "Prospective Study of Pravastatin in the Elderly at Risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4741 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4745 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4741; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC134480/fullTextXML"; rdfs:comment "Briefly, PROSPER is designed to examine the benefits of pravastatin (40 mg per day) versus placebo in 70–82 year old men and women with either pre-existing vascular disease or elevated risk of such disease due to smoking, hypertension, or diabetes." . _:13382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4743; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC134480/fullTextXML"; rdfs:comment "Briefly, PROSPER is designed to examine the benefits of pravastatin (40 mg per day) versus placebo in 70–82 year old men and women with either pre-existing vascular disease or elevated risk of such disease due to smoking, hypertension, or diabetes." . _:13392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4745; "vascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC134480/fullTextXML"; rdfs:comment "Briefly, PROSPER is designed to examine the benefits of pravastatin (40 mg per day) versus placebo in 70–82 year old men and women with either pre-existing vascular disease or elevated risk of such disease due to smoking, hypertension, or diabetes." . _:133a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12097148%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "In Scotland, Ireland, and the Netherlands, 23,770 individuals were screened, and 5,804 subjects (2,804 men and 3,000 women), aged 70 to 82 years (average 75 years) and with baseline cholesterol 4.0-9.0 mmol/l, were randomised." . _:133b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102434"; "The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction."; "PMID:35069183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8769168/fullTextXML"; rdfs:comment "The Prospective Study of Pravastatin in the Elderly at Risk (PROSPER) trial was supported by an investigator-initiated grant from Bristol-Myers Squibb, USA." . _:133c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled trial population of 5,804 men and women aged 70 to 82 with pre-existing vascular disease or risk factors for it, screened in Scotland, Ireland and the Netherlands and randomised to pravastatin 40 mg/day or placebo for about 3.2 years to test whether statin treatment reduces coronary and cerebrovascular events in the elderly."; "PMID:12097148", "PMID:12457784"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:133d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5804; "men and women aged 70-82 randomised to pravastatin or placebo"; "PMID:12457784"; rdfs:comment "We did a randomised controlled trial in which we assigned 5804 men (n=2804) and women (n=3000) aged 70-82 years with a history of, or risk factors for, vascular disease to pravastatin (40 mg per day; n=2891) or placebo (n=2913)." . _:133e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROSPER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4752, _:genid-371333f489424440b12a13b9d98ced822608-genid4754, _:genid-371333f489424440b12a13b9d98ced822608-genid4756; , , ; "GCST90093093"; "A family feeding study in rural northern China that recruited 3,153 Han Chinese participants from 658 families, each ascertained through a proband with untreated prehypertension or stage-1 hypertension, of whom 1,906 eligible probands and their siblings, spouses and offspring underwent seven-day low-sodium, high-sodium and high-sodium with potassium supplementation dietary interventions, to localise and identify genes influencing blood pressure responses to dietary sodium and potassium."; 3153; "GENSALT", "GENSalt", "GenSALT", "GenSalt", "GenSalt Study", "Genetic Epidemiology Network of Salt-Sensitivity", "Genetic Epidemiology Network of Salt-Sensitivity Study"; ; rdfs:label "Genetic Epidemiology Network of Salt Sensitivity"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4752 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4754 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4756 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:133f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4752; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17443206+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Each family was ascertained through a proband with untreated prehypertension or stage-1 hypertension in rural China." . _:13402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4754; "dietary sodium"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17443206+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objectives of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) are to localize and identify genes related to blood pressure (BP) responses to dietary sodium and potassium intervention." . _:13412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4756; "dietary potassium"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17443206+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objectives of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) are to localize and identify genes related to blood pressure (BP) responses to dietary sodium and potassium intervention." . _:13422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17443206%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Each family was ascertained through a proband with untreated prehypertension or stage-1 hypertension in rural China." . _:13432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093093"; "Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium."; "PMID:33418499", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7804602/fullTextXML"; rdfs:comment "The following studies contributed data: Old Order Amish, Atherosclerosis Risk in Communities (ARIC), Framingham Heart Study (FHS), Genetic Epidemiology Network of Arteriopathy (GENOA), Genetic Epidemiology Network of Salt Sensitivity (GenSalt)" . _:13442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family feeding study in rural northern China that recruited 3,153 Han Chinese participants from 658 families, each ascertained through a proband with untreated prehypertension or stage-1 hypertension, of whom 1,906 eligible probands and their siblings, spouses and offspring underwent seven-day low-sodium, high-sodium and high-sodium with potassium supplementation dietary interventions, to localise and identify genes influencing blood pressure responses to dietary sodium and potassium."; "PMID:17443206", "PMID:28993450", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4873465/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3153; "participants from 658 families recruited (2003-2005)"; "PMID:17443206"; rdfs:comment "Overall, 3,153 study participants from 658 families were enrolled in the study (Table 3)." . _:13462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENSALT"; . _:13472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENSalt"; . _:13482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenSALT"; . _:13492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenSalt"; . a owl:NamedIndividual, ; ; , ; ; "GCST90054795"; "A research resource of Kaiser Permanente, launched in May 2016 and built on the Research Program on Genes, Environment and Health, that collects biospecimens and surveys linked to electronic health records from consenting adult members across Kaiser Permanente's eight US regions (about 396,000 consented by July 2021), with general, pregnancy and cancer cohorts."; "The acronym KP also denotes Genetic Epidemiology Research on Adult Health and Aging (COHO:0000431); this term is Kaiser Permanente Research Bank."@en; 396000; "KP", "KP Research Bank", "KPRB", "Kaiser Permanente", "Kaiser Permanente Research Bank (KPRB)", "Kaiser Permanente Research Board"; , ; rdfs:label "Kaiser Permanente Research Bank"@en; rdfs:seeAlso . _:134a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8876075/fullTextXML"; rdfs:comment "The KP Research Bank (KPRB), a research resource within KP, is seeking to collect biospecimens and surveys from at least 400,000 adult members across the U.S. and linking that information to the EHR." . _:134b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90054795"; "Three genes associated with anterior and posterior cruciate ligament injury : a genome-wide association analysis."; "PMID:34169730", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34169730+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genome-wide association (GWA) analyses were performed using data from the Kaiser Permanente Research Board (KPRB) and the UK Biobank." . _:134c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research resource of Kaiser Permanente, launched in May 2016 and built on the Research Program on Genes, Environment and Health, that collects biospecimens and surveys linked to electronic health records from consenting adult members across Kaiser Permanente's eight US regions (about 396,000 consented by July 2021), with general, pregnancy and cancer cohorts."; "PMID:35216576", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8876075/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:134d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 396000; "KP members consented to join (approximately 396,000), 2021"; "PMID:35216576"; rdfs:comment "Approximately 396,000 KP members have consented to join the KPRB as of July 2021, and biospecimens have been collected on approximately 371,000 adults (94% of those consented)." . _:134e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KP"; . _:134f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KPRB"; . _:13502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kaiser Permanente Research Bank (KPRB)"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4773, _:genid-371333f489424440b12a13b9d98ced822608-genid4775, _:genid-371333f489424440b12a13b9d98ced822608-genid4777; ; , ; ; "GCST90244755"; "A collection of longitudinal, community-representative twin and adoptive family studies in Minnesota, including the Minnesota Twin Registry, the Minnesota Twin Family Study, the Enrichment Study, the Adolescent Brain study and the Sibling Interaction and Behavior Study, focusing on psychological adjustment, personality, cognitive ability and brain function with an emphasis on substance use and related psychopathology."; "MCTFR"; ; rdfs:label "Minnesota Center for Twin and Family Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4773 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4775 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4777 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4773; "substance use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31796137+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Minnesota Center for Twin and Family Research (MCTFR) comprises multiple longitudinal, community-representative investigations of twin and adoptive families that focus on psychological adjustment, personality, cognitive ability and brain function, with a special emphasis on substance use and related psychopathology." . _:13522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4775; "psychopathology"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31796137+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Minnesota Center for Twin and Family Research (MCTFR) comprises multiple longitudinal, community-representative investigations of twin and adoptive families that focus on psychological adjustment, personality, cognitive ability and brain function, with a special emphasis on substance use and related psychopathology." . _:13532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4777; "substance use disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31796137+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Minnesota Center for Twin and Family Research (MCTFR) comprises multiple longitudinal, community-representative investigations of twin and adoptive families that focus on psychological adjustment, personality, cognitive ability and brain function, with a special emphasis on substance use and related psychopathology." . _:13542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7056536/unicode"; rdfs:comment "The MCTFR includes the Minnesota Twin Registry (MTR), a cohort of twins who have completed assessments in middle and older adulthood; the Minnesota Twin Family Study (MTFS) of twins assessed from childhood and adolescence into middle adulthood; the Enrichment Study (ES) of twins oversampled for high risk for substance use disorders assessed from childhood into young adulthood; the Adolescent Brain (AdBrain) study, a neuroimaging study of adolescent twins; and the Siblings Interaction and Behavior Study (SIBS), a study of adoptive and nonadoptive families assessed from adolescence into young adulthood." . _:13552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7056536/unicode"; rdfs:comment "Lykken and his colleagues developed protocols that allowed for the successful ascertainment of large, representative samples of twins from birth records, which can be accessed for research purposes in Minnesota State." . _:13562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244755"; "Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity."; "PMID:38052102", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10767824/fullTextXML"; rdfs:comment "The Minnesota Center for Twin and Family Research (MCTFR) was supported in part by USPHS Grants from the National Institute on Alcohol Abuse and Alcoholism (AA09367 and AA11886) and the National Institute on Drug Abuse (DA05147, DA13240, and DA024417)." . _:13572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of longitudinal, community-representative twin and adoptive family studies in Minnesota, including the Minnesota Twin Registry, the Minnesota Twin Family Study, the Enrichment Study, the Adolescent Brain study and the Sibling Interaction and Behavior Study, focusing on psychological adjustment, personality, cognitive ability and brain function with an emphasis on substance use and related psychopathology."; "PMID:17254440", "PMID:31796137"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCTFR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4784, _:genid-371333f489424440b12a13b9d98ced822608-genid4786; , , , , , , , , , , , , , , ; ; "GCST90267567"; "A prospective cohort of about 1,500 healthy men and women of European ancestry aged 30 to 60, recruited without diabetes, hypertension or dyslipidaemia at centres in 13-14 European countries by the European Group for the Study of Insulin Resistance, with baseline oral glucose tolerance tests and euglycaemic insulin clamps and follow-up after 3 and 10 years to study how insulin resistance relates to atherosclerosis, cardiovascular disease and type 2 diabetes."; 1538; "EGIR-RISC", "EGIR-RISC Study", "RISC", "Relationship between Insulin Sensitivity and Cardiovascular disease Study"; ; rdfs:label "Relationship between Insulin Sensitivity and Cardiovascular disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4786 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4784; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14968294+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The RISC (Relationship between Insulin Sensitivity and Cardiovascular disease) Study is using the infrastructure of an extended European collaborative research group to study insulin resistance and CVD risk in 1500 healthy people aged 30 to 60 years from 20 centres in 13 countries." . _:135a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4786; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14968294+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The RISC (Relationship between Insulin Sensitivity and Cardiovascular disease) Study is using the infrastructure of an extended European collaborative research group to study insulin resistance and CVD risk in 1500 healthy people aged 30 to 60 years from 20 centres in 13 countries." . _:135b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://web.archive.org/web/20090107060020/http://www.egir.org/egirrisc/status.html"; rdfs:comment "At the end of November 2004, the RISC study had recruited 1504 participants in 14 countries (Austria, Denmark, Finland, France, Germany, Greece, The Netherlands, Ireland, Italy, Sweden, Spain, Switzerland, United Kingdom and Serbia and Montenegro)." . _:135c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267567"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7614755/fullTextXML"; rdfs:comment "In the RISC study we assessed the correlation of OGTT derived ISI and IFC with the clamp-based measure of insulin sensitivity M/I" . _:135d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of about 1,500 healthy men and women of European ancestry aged 30 to 60, recruited without diabetes, hypertension or dyslipidaemia at centres in 13-14 European countries by the European Group for the Study of Insulin Resistance, with baseline oral glucose tolerance tests and euglycaemic insulin clamps and follow-up after 3 and 10 years to study how insulin resistance relates to atherosclerosis, cardiovascular disease and type 2 diabetes."; "PMID:14968294", "PMID:19455304"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:135e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1538; "men and women who participated at baseline (2002-2005)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2699728/fullTextXML"; rdfs:comment "A total of 1,538 men and women participated in the RISC cohort." . _:135f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGIR-RISC"; . _:13602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RISC"; . a owl:NamedIndividual, ; , ; ; ; "GCST90010716"; "The first cohort of the Rotterdam Study, a prospective population-based cohort of 7,983 inhabitants aged 55 and over of Ommoord, a suburb of Rotterdam in the Netherlands, started in 1990 and re-examined about every 4 years with home interviews and clinical assessments to study determinants of chronic diseases in older adults."; 7983; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RS1"; "RS-I", "RS1", "RSI", "Rotterdam Study cohort I", "Rotterdam Study first cohort", "Rotterdam Study, first cohort", "first cohort of the Rotterdam Study"; , ; rdfs:label "Rotterdam Study I"@en; rdfs:seeAlso . _:13612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7944992/fullTextXML"; rdfs:comment "The first cohort (RS-I) started in 1990 and included 7,983 inhabitants, aged ≥55 years from Ommoord, a suburb of Rotterdam in the Netherlands." . _:13622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7944992/fullTextXML"; rdfs:comment "The Rotterdam Study (RS) is a prospective, population-based cohort study of determinants of chronic diseases in older adults (7). The first cohort (RS-I) started in 1990 and included 7,983 inhabitants, aged ≥55 years from Ommoord, a suburb of Rotterdam in the Netherlands." . _:13632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90010716"; "Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene."; "PMID:33055079", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33055079%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We used data from the Rotterdam Study (RSI, RSII and RSIII) to create three hand OA phenotypes" . _:13642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The first cohort of the Rotterdam Study, a prospective population-based cohort of 7,983 inhabitants aged 55 and over of Ommoord, a suburb of Rotterdam in the Netherlands, started in 1990 and re-examined about every 4 years with home interviews and clinical assessments to study determinants of chronic diseases in older adults."; "PMID:33717105"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7983; "inhabitants of Ommoord aged 55 and over included at the start in 1990"; "PMID:33717105"; rdfs:comment "The first cohort (RS-I) started in 1990 and included 7,983 inhabitants, aged ≥55 years from Ommoord, a suburb of Rotterdam in the Netherlands." . _:13662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS-I"; . _:13672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS1"; . _:13682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RSI"; . _:13692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rotterdam Study first cohort"; . a owl:NamedIndividual, ; , ; "GCST90270327"; "A longitudinal cohort of about 11,500 children aged 9-10, including about 1,720 twins, recruited largely through schools at 21 data acquisition sites across the United States to reflect the nation's diversity, and followed for ten years with annual assessments and biennial MRI to study adolescent brain and cognitive development."; "The acronym ABCD also denotes Amsterdam Born Children and their Development (COHO:0001451); this term is Adolescent Brain Cognitive Development Study."@en; 11878; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ABCD%20study"; "ABCD", "ABCD Study", "ABCD study", "Adolescent Brain Cognitive Development"; , ; rdfs:label "Adolescent Brain Cognitive Development Study"@en . _:136a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6314286/fullTextXML"; rdfs:comment "the marginal race and ethnic composition for children living within the site-defined recruitment catchment areas of these 21 sites (described below) closely matches the distribution of the U.S. as a whole." . _:136b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270327"; "Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape."; "PMID:37973980", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37973980+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "magnetic resonance images of 6772 children from the ABCD study cohort" . _:136c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of about 11,500 children aged 9-10, including about 1,720 twins, recruited largely through schools at 21 data acquisition sites across the United States to reflect the nation's diversity, and followed for ten years with annual assessments and biennial MRI to study adolescent brain and cognitive development."; "PMID:29703560"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:136d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11878; "children aged 9-10 enrolled at baseline (2016-2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8844713/fullTextXML"; rdfs:comment "Out of the 11,878 participants in the study 127 (1.1%) withdrew." . _:136e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCD"; . _:136f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCD study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4809; , ; "GCST90269867"; "A pharmacogenetic study established in 2007 at Massachusetts General Hospital, which from 2008 enrolled about 1,000 adults of diverse ancestry enriched for risk of type 2 diabetes and challenged them with glipizide and metformin at clinical research centres in Boston, Massachusetts, to identify genetic variants influencing the acute response to glucose-lowering drugs."; 1000; "SUGAR-MGH", "The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans"; ; rdfs:label "Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4809 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4809; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37233759+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "One thousand participants at risk for type 2 diabetes from diverse ancestries underwent sequential glipizide and metformin challenges." . _:13712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4374872/fullTextXML"; rdfs:comment "All CRC visits took place at an academic medical center (Massachusetts General Hospital, Brigham and Women’s Hospital, or the Joslin Diabetes Center, all in Boston, MA)." . _:13722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269867"; "Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH."; "PMID:37233759", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:37233759%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH) examined the acute response to metformin and glipizide in order to identify new pharmacogenetic associations for the response to common glucose-lowering medications in individuals at risk of type 2 diabetes." . _:13732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pharmacogenetic study established in 2007 at Massachusetts General Hospital, which from 2008 enrolled about 1,000 adults of diverse ancestry enriched for risk of type 2 diabetes and challenged them with glipizide and metformin at clinical research centres in Boston, Massachusetts, to identify genetic variants influencing the acute response to glucose-lowering drugs."; "PMID:37233759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4374872/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "individuals naive to diabetes medication who received the glipizide and metformin challenges"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10790310/unicode"; rdfs:comment "SUGAR-MGH is a pharmacogenetic study in which 1000 individuals who were naive to type 2 diabetes medications received a single-dose glipizide challenge and a short course of metformin." . _:13752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUGAR-MGH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4816; , ; , , , , , ; , , ; "GCST90502765"; "An international registry and cohort, funded by the US National Cancer Institute and begun in 1997, of colorectal cancer cases, their unaffected relatives and population-based controls recruited through six centres in Australasia and North America (the Australasian, Mayo Clinic, Ontario, Seattle, University of Hawaii and USC Consortium registries), as a resource for research on familial and sporadic colorectal cancer."; 42489; "CCFR", "CCFR-II", "CCFRC", "Colon CFR", "Colon Cancer Family Registry Cohort", "Colorectal Cancer Family Registry", "Cooperative Familial Registry for Colorectal Studies"; ; rdfs:label "Colon Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4816 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4816; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3616155/fullTextXML"; rdfs:comment "Data for this study were obtained through the Colon CFR, a National Cancer Institute (NCI)–funded registry of CRC cases, unaffected family members, and population-based controls." . _:13772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3288900/fullTextXML"; rdfs:comment "The Colon Cancer Family Registry (Colon CFR) has recruited participants from the US, Canada, Australia and New Zealand." . _:13782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502765"; "Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer."; "PMID:38408508", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11213623/fullTextXML"; rdfs:comment "We conducted a GWAS meta-analysis of 6176 EOCRC cases and 65 829 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), the Colorectal Transdisciplinary Study (CORECT), the Colon Cancer Family Registry (CCFR), and the UK Biobank." . _:13792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international registry and cohort, funded by the US National Cancer Institute and begun in 1997, of colorectal cancer cases, their unaffected relatives and population-based controls recruited through six centres in Australasia and North America (the Australasian, Mayo Clinic, Ontario, Seattle, University of Hawaii and USC Consortium registries), as a resource for research on familial and sporadic colorectal cancer."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3616155/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4762074/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:137a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 42489; "participants (cases, relatives and controls) from 15,049 families recruited 1998-2012"; "https://europepmc.org/api/getPdf?pmcid=PMC5913593"; rdfs:comment "The 42 489 study participants from 15 049 families were recruited between 1998 and 2012 in the USA, Canada, Australia and New Zealand." . _:137b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCFR"; . _:137c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCFR-II"; . _:137d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCFRC"; . _:137e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Colon CFR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4826; , ; "GCST90624167"; "A prospective cohort of about 3,000 adult outpatients of self-reported Caucasian ethnicity with prevalent type 2 diabetes, recruited in 2010–2014 at two university-based study centres in Germany and followed with biennial visits, core phenotyping and biobanking for at least 10 years to study diabetes complications, with a primary focus on renal events."; 3000; "DIACORE", "DIAbetes COhoRtE study"; ; rdfs:label "DIAbetes COhoRtE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4826 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:137f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4826; "type 2 diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3577512/fullTextXML"; rdfs:comment "DIACORE is a prospective cohort study aiming to recruit 6000 patients of self-reported Caucasian ethnicity with prevalent DM2 for at least 10 years of follow-up." . _:13802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6428304/fullTextXML"; rdfs:comment "Patient recruitment at the baseline visit (Visit 1) was performed from 2/2010 through 8/2014 in two University based study centers in Germany through direct written or spoken invitation to participate, press articles, flyers or public presentations (S1 Fig)." . _:13812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624167"; "A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations."; "PMID:40181193", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-025-02954-w/MediaObjects/41380_2025_2954_MOESM2_ESM.docx"; rdfs:comment "DIAbetes COhoRtE (DIACORE): is a German prospective cohort study of 3,000 adult European diabetes mellitus type 2 outpatients, with a primary focus on renal events." . _:13822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of about 3,000 adult outpatients of self-reported Caucasian ethnicity with prevalent type 2 diabetes, recruited in 2010–2014 at two university-based study centres in Germany and followed with biennial visits, core phenotyping and biobanking for at least 10 years to study diabetes complications, with a primary focus on renal events."; "PMID:23409726", "PMID:30897159"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "adult type 2 diabetes outpatients recruited at baseline (2010-2014)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6428304/fullTextXML"; rdfs:comment "We thus established the DIAbetes COhoRtE study (DIACORE) [21], a cohort study of 3000 patients with DM2." . _:13842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIACORE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4833, _:genid-371333f489424440b12a13b9d98ced822608-genid4835, _:genid-371333f489424440b12a13b9d98ced822608-genid4837; , ; "GCST90091013"; "A US prospective multicentre cohort of men aged 65 or older recruited at six clinical centres (Birmingham, Minneapolis, Palo Alto, near Pittsburgh, Portland and San Diego), designed to examine risk factors for osteoporosis, fractures and prostate cancer in older men, with ancillary studies such as MrOS Sleep (2003-2005, in-home polysomnography of 3,135 men)."; "The acronym MrOS also denotes MrOS Gothenburg (COHO:0000892); this term is Osteoporotic Fractures in Men Study."@en; 5995; "MrOS", "MrOS-USA", "Osteoporotic Fractures in Men (MrOS) Study", "Osteoporotic Fractures in Men Study USA"; ; rdfs:label "Osteoporotic Fractures in Men Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4833 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4835 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4837 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4833; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6467367/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men Study (MrOS) is a prospective cohort study examining the risk factors for fractures, osteoporosis, and prostate cancer [94,95] in males age 65 or older from six U.S. communities." . _:13862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4835; "fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6467367/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men Study (MrOS) is a prospective cohort study examining the risk factors for fractures, osteoporosis, and prostate cancer [94,95] in males age 65 or older from six U.S. communities." . _:13872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4837; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6467367/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men Study (MrOS) is a prospective cohort study examining the risk factors for fractures, osteoporosis, and prostate cancer [94,95] in males age 65 or older from six U.S. communities." . _:13882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13269534/fullTextXML"; rdfs:comment "For the MrOS study men were recruited at six US clinical centers in Birmingham, AL; Minneapolis, MN; Palo Alto, CA; the Monongahela Valley near Pittsburgh, PA; Portland, OR; and San Diego, CA" . _:13892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091013"; "Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program."; "PMID:34446064", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394596/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men Study (MrOS) is a multi-center cohort study initially designed to examine the risk factors for osteoporosis, fractures, and prostate cancer in older males [28, 29]." . _:138a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A US prospective multicentre cohort of men aged 65 or older recruited at six clinical centres (Birmingham, Minneapolis, Palo Alto, near Pittsburgh, Portland and San Diego), designed to examine risk factors for osteoporosis, fractures and prostate cancer in older men, with ancillary studies such as MrOS Sleep (2003-2005, in-home polysomnography of 3,135 men)."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13269534/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6467367/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394596/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:138b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5995; "men aged 65 or older enrolled at baseline (2000-2002)"; "PMID:16084776"; rdfs:comment "5995 men enrolled with a mean (+/-SD) age of 73.7 (+/-5.9) years, 11% of which were minorities." . _:138c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MrOS"; . _:138d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MrOS-USA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4845, _:genid-371333f489424440b12a13b9d98ced822608-genid4847; , ; ; "GCST90102513"; "A Dutch population-based cohort of 8,592 residents of the city of Groningen aged 28 to 75, enrolled in 1997-1998 from 40,856 respondents who sent a morning urine sample, enriched for people with urinary albumin of at least 10 mg/L plus a random control sample, and followed up to study renal and cardiovascular disease."; 8592; "PREVEND", "Prevention of REnal and Vascular ENd-stage Disease", "Prevention of Renal and Vascular Endstage Disease study"; ; rdfs:label "Prevention of Renal and Vascular End-stage Disease study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4845 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4847 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:138e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4845; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3541606/fullTextXML"; rdfs:comment "The baseline PREVEND participants were recruited from a total of 6000 individuals with a urinary albumin concentration ≥10 mg/L and a random control sample of individuals with a urinary albumin concentration <10 mg/L (n=2592)." . _:138f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4847; "renal disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3541606/fullTextXML"; rdfs:comment "The baseline PREVEND participants were recruited from a total of 6000 individuals with a urinary albumin concentration ≥10 mg/L and a random control sample of individuals with a urinary albumin concentration <10 mg/L (n=2592)." . _:13902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12902255/fullTextXML"; rdfs:comment "the Prevention of REnal and Vascular ENd-stage Disease (PREVEND) study, consisting of participants from the city of Groningen in northern Netherlands" . _:13912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102513"; "Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population."; "PMID:35097025", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:35097025%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed a genome-wide association study of serum T50 in 2,739 individuals of European descent participating in the Prevention of REnal and Vascular ENd-stage Disease (PREVEND) study" . _:13922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch population-based cohort of 8,592 residents of the city of Groningen aged 28 to 75, enrolled in 1997-1998 from 40,856 respondents who sent a morning urine sample, enriched for people with urinary albumin of at least 10 mg/L plus a random control sample, and followed up to study renal and cardiovascular disease."; "PMID:23316297", "PMID:41406505"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8592; "participants enrolled at baseline (1997-1998)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12902255/fullTextXML"; rdfs:comment "PREVEND is a population-based cohort with 8592 participants enrolled between 1997 and 1998." . _:13942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PREVEND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4854, _:genid-371333f489424440b12a13b9d98ced822608-genid4856; , , , , , , , ; , , , , , , , , , , , , , , , , ; "GCST90129599"; "A European consortium bringing together the European genome-wide association consortia working on Alzheimer disease, which collated and uniformly genotyped a new dataset of about 20,000 clinically diagnosed Alzheimer disease cases and 22,000 controls from 15 European countries and pools them with existing European cohorts for genetic studies of Alzheimer disease and related dementias."; 487511; "EADB", "EADB consortium", "European Alzheimer DNA BioBank", "European Alzheimer and Dementia Biobank", "European Alzheimer’s Disease DNA Biobank", "European Alzheimer’s and Dementia Biobank"; ; rdfs:label "European Alzheimer & Dementia Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4854 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4856 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4854; "dementia"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "This consortium groups together 20,464 Alzheimer’s disease (AD) cases and 22,244 controls after quality controls from 16 European countries" . _:13962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4856; "Alzheimer's disease"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "This consortium groups together 20,464 Alzheimer’s disease (AD) cases and 22,244 controls after quality controls from 16 European countries" . _:13972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "The EADB studies (EADI, Bonn, DemGene, GR@ACE/DEGESCO, EADB-core and GERAD) are described in more details in (Bellenguez et al., 2022)." . _:13982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9547780/fullTextXML"; rdfs:comment "For the EMIF-AD MBD data, a total of 2,136 proteins were quantified centrally using 11-plex tandem mass tag spectrometry in 366 individuals from the EMIF-AD MBD study [61] (subset of Amsterdam Dementia Cohort within EADB)." . _:13992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9547780/fullTextXML"; rdfs:comment "All, except the Swedisch Birth cohort and clinical AD samples, are part of EADB" . _:139a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "The EADB studies (EADI, Bonn, DemGene, GR@ACE/DEGESCO, EADB-core and GERAD) are described in more details in (Bellenguez et al., 2022)" . _:139b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "We applied the same QC protocol to all the EADB studies: EADB-core, EADI, GR@ACE/DEGESCO, GERAD, Bonn and DemGene." . _:139c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8087277/fullTextXML"; rdfs:comment "Genotyping of the 100-plus Study was performed in the context of EADB (European Alzheimer DNA biobank) funded by the JPco-fuND FP-829-029 (ZonMW project number, 33051061)." . _:139d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01024-z/MediaObjects/41588_2022_1024_MOESM1_ESM.pdf"; rdfs:comment "Belgium: The participants were part of a large prospective cohort1 of Belgian AD patients and healthy elderly control individuals." . _:139e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01024-z/MediaObjects/41588_2022_1024_MOESM1_ESM.pdf"; rdfs:comment "Greece: the HELIAD study, comprising 49 AD cases and 1,150 controls." . _:139f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "This consortium groups together 20,464 Alzheimer’s disease (AD) cases and 22,244 controls after quality controls from 16 European countries (Austria, Belgium, Bulgaria, Czech Republic, Denmark, Finland, France, Germany, Greece, Italy, Portugal, Spain, Sweden, Switzerland, The Netherlands and the UK)." . _:13a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129599"; "Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers."; "PMID:36066633", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36066633+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals" . _:13a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European consortium bringing together the European genome-wide association consortia working on Alzheimer disease, which collated and uniformly genotyped a new dataset of about 20,000 clinically diagnosed Alzheimer disease cases and 22,000 controls from 15 European countries and pools them with existing European cohorts for genetic studies of Alzheimer disease and related dementias."; "PMID:35379992"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 487511; "cases, proxy cases and controls in the 2022 EADB stage I GWAS meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005347/fullTextXML"; rdfs:comment "Colocalization between the EGFR eQTL signal (MayoRNAseq TCX, n = 259 individuals) and the EADB GWAS stage I (n = 487,511) signal (eQTL coloc PP4 = 98.3%)" . _:13a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EADB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4871; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; ; "GCST90104544"; "An international multicentre case-control study of risk factors for first acute stroke, which recruited 13,462 stroke cases and 13,488 community or hospital controls matched for age, sex and region from 142 centres in 32 countries between 2007 and 2015, with a genotyped subset of consenting participants used in genetic studies of stroke."; 13462; 13488; 26950; "INTERSTROKE", "INTERSTROKE case-control study"; ; rdfs:label "INTERSTROKE Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4871 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4871; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10955659/fullTextXML"; rdfs:comment "The INTERSTROKE study is a case–control study of acute first stroke and was undertaken with 13,462 stroke cases and 13,488 controls recruited between January 11, 2007 and August 8, 2015 in 32 countries worldwide." . _:13a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10955659/fullTextXML"; rdfs:comment "seven regions include: Western Europe/North America (Australia, Canada, Denmark, Germany, Sweden, UK, and Ireland), Eastern/central Europe/Middle East (Croatia, Poland, Russia, Turkey, Iran, Saudi Arabia, Kuwait, and United Arab Emirates), Africa (Mozambique, Nigeria, Sudan, and Uganda), South Asia (India and Pakistan), China, South East Asia (Philippines, Thailand, and Malaysia), and South America (Argentina, Brazil, Chile, Colombia, Ecuador, and Peru)" . _:13a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104544"; "Stroke genetics informs drug discovery and risk prediction across ancestries."; "PMID:36180795", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-022-05165-3/MediaObjects/41586_2022_5165_MOESM1_ESM.docx"; rdfs:comment "INTERSTROKE is an international, multi-centered, case-control study of stroke investigating the global burden of risk factors across 32 countries and 18 different ethnic groups around the world." . _:13a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international multicentre case-control study of risk factors for first acute stroke, which recruited 13,462 stroke cases and 13,488 community or hospital controls matched for age, sex and region from 142 centres in 32 countries between 2007 and 2015, with a genotyped subset of consenting participants used in genetic studies of stroke."; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-022-05165-3/MediaObjects/41586_2022_5165_MOESM1_ESM.docx", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10955659/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9841450/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13462; "first acute stroke cases and matched controls recruited 2007-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10955659/fullTextXML"; rdfs:comment "With the sample size to 26,950 participants from 32 countries, we reported the association of stroke subtypes with active and environmental tobacco smoking in men and women, young and old, with regions of world and by level of income in countries." . _:13a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13488; "first acute stroke cases and matched controls recruited 2007-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10955659/fullTextXML"; rdfs:comment "With the sample size to 26,950 participants from 32 countries, we reported the association of stroke subtypes with active and environmental tobacco smoking in men and women, young and old, with regions of world and by level of income in countries." . _:13aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26950; "first acute stroke cases and matched controls recruited 2007-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10955659/fullTextXML"; rdfs:comment "With the sample size to 26,950 participants from 32 countries, we reported the association of stroke subtypes with active and environmental tobacco smoking in men and women, young and old, with regions of world and by level of income in countries." . _:13ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTERSTROKE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4880, _:genid-371333f489424440b12a13b9d98ced822608-genid4882, _:genid-371333f489424440b12a13b9d98ced822608-genid4884; , , ; , , , ; "GCST90570659"; "A population-based prospective cohort of 74,942 Chinese women aged 40–70 recruited in 1996–2000 from selected urban communities of Shanghai, most of whom gave blood, urine or buccal-cell samples, followed by biennial in-person recontact and linkage to cancer and vital statistics registries, to study environmental exposures, biomarkers and the risk of cancer and other chronic diseases."; 74942; "SWHS", "Shanghai Womens Health Study"; ; rdfs:label "Shanghai Women's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4880 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4882 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4884 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4880; "lifestyle exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16236996+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The resources from the cohort will be valuable in future studies of environmental exposures and biomarkers for the risk of cancer and other chronic diseases." . _:13ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4882; "environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16236996+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The resources from the cohort will be valuable in future studies of environmental exposures and biomarkers for the risk of cancer and other chronic diseases." . _:13ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4884; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16236996+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The resources from the cohort will be valuable in future studies of environmental exposures and biomarkers for the risk of cancer and other chronic diseases." . _:13af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "The Shanghai Women's Health Study (SWHS) is an ongoing population-based cohort study of approximately 75,000 women who were aged 40-70 years at study enrollment and resided in in urban Shanghai, China" . _:13b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90570659"; "Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids."; "PMID:40537477", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "The Shanghai Women's Health Study (SWHS) is an ongoing population-based cohort study of approximately 75,000 women who were aged 40-70 years at study enrollment and resided in in urban Shanghai, China; 56,832 (75.8%) provided a blood samples." . _:13b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of 74,942 Chinese women aged 40–70 recruited in 1996–2000 from selected urban communities of Shanghai, most of whom gave blood, urine or buccal-cell samples, followed by biennial in-person recontact and linkage to cancer and vital statistics registries, to study environmental exposures, biomarkers and the risk of cancer and other chronic diseases."; "PMID:16236996", "PMID:22073174"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 74942; "women aged 40-70 recruited 1996-2000"; "PMID:16236996"; rdfs:comment "From 1996 to 2000, the Shanghai Women's Health Study recruited 74,942 adult Chinese women from selected urban communities, with a 92% response rate." . _:13b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4891; , ; ; "GCST90002292"; "A nested case-control sample of about 3,400 French-Canadian participants of the Montreal Heart Institute Biobank (patients with coronary artery disease and controls free of it) genotyped on the Illumina MEGA array at the Université de Montréal Beaulieu-Saucier Pharmacogenomics Centre, forming the second of the biobank's two genetic data sets."; 2534; 863; 3397; "MHI Biobank phase 2", "MHIphase2"; ; rdfs:label "Montreal Heart Institute Biobank phase2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4891 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4891; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML"; rdfs:comment "To increase our discovery power, we also measured CEC and other lipid phenotypes in an additional 863 CAD‐free participants and 2534 patients with CAD (MHI Biobank phase 2 in Table S1)." . _:13b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "Montreal Heart Institute Biobank phase2" . _:13b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002292"; "Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations."; "PMID:32888493", "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "Montreal Heart Institute Biobank phase2" . _:13b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control sample of about 3,400 French-Canadian participants of the Montreal Heart Institute Biobank (patients with coronary artery disease and controls free of it) genotyped on the Illumina MEGA array at the Université de Montréal Beaulieu-Saucier Pharmacogenomics Centre, forming the second of the biobank's two genetic data sets."; "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6587223/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2534; "MHI Biobank participants genotyped on the Illumina MEGA array (phase 2 data set), 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML"; rdfs:comment "We generated the MHI Biobank phase 2 data set by genotyping 3397 participants on the Illumina MEGA array." . _:13b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 863; "MHI Biobank participants genotyped on the Illumina MEGA array (phase 2 data set), 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML"; rdfs:comment "We generated the MHI Biobank phase 2 data set by genotyping 3397 participants on the Illumina MEGA array." . _:13ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3397; "MHI Biobank participants genotyped on the Illumina MEGA array (phase 2 data set), 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML"; rdfs:comment "We generated the MHI Biobank phase 2 data set by genotyping 3397 participants on the Illumina MEGA array." . _:13bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHIphase2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4900, _:genid-371333f489424440b12a13b9d98ced822608-genid4902; , ; ; "GCST90002292"; "A nested case-control sample of about 2,000 French-Canadian participants of the Montreal Heart Institute Biobank (patients with myocardial infarction and controls free of coronary artery disease) whose whole genomes were sequenced at low depth (about 5.6x) at the McGill University and Génome Québec Innovation Centre, forming the first of the biobank's two genetic data sets."; 1970; "MHI Biobank phase 1", "MHIphase1"; ; rdfs:label "Montreal Heart Institute Biobank phase1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4900 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4902 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4900; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML"; rdfs:comment "we measured HDL‐mediated cholesterol efflux using 2 different cellular models to generate 4 different CEC phenotypes in 996 CAD‐free participants and 1000 patients with myocardial infarction from the MHI Biobank (MHI Biobank phase 1 in Table S1)" . _:13bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4902; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML"; rdfs:comment "we measured HDL‐mediated cholesterol efflux using 2 different cellular models to generate 4 different CEC phenotypes in 996 CAD‐free participants and 1000 patients with myocardial infarction from the MHI Biobank (MHI Biobank phase 1 in Table S1)" . _:13be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "Montreal Heart Institute Biobank phase1" . _:13bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002292"; "Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations."; "PMID:32888493", "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "Montreal Heart Institute Biobank phase1" . _:13c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control sample of about 2,000 French-Canadian participants of the Montreal Heart Institute Biobank (patients with myocardial infarction and controls free of coronary artery disease) whose whole genomes were sequenced at low depth (about 5.6x) at the McGill University and Génome Québec Innovation Centre, forming the first of the biobank's two genetic data sets."; "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6201388/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6587223/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1970; "French Canadians of the MHI Biobank whose whole genomes were sequenced at low depth (phase 1 data set), 2016"; "PMID:27376640"; rdfs:comment "Specifically, we sequenced at ~5.6× coverage the whole genome of 1970 French Canadians recruited by the Montreal Heart Institute Biobank and identified 29 million bi-allelic variants (31 % novel), including 19 million variants with a minor allele frequency (MAF) <0.5 %." . _:13c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHIphase1"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4909; , ; ; "GCST90267408"; "A multicentre population-based case-control study of colorectal cancer in the Rhine-Neckar region of south-west Germany, led from the German Cancer Research Center in Heidelberg, which from 2003 recruited patients aged 30 or over with a first colorectal cancer diagnosis from the 22 hospitals treating the disease in the region, and actively follows the cases to study colorectal cancer risk, prevention by screening and survival."; 6264; 6866; "DACHS", "DACHS study", "Darmkrebs: Chancen der Verhütung durch Screening Study"; ; rdfs:label "Darmkrebs: Chancen der Verhütung durch Screening"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4909 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4909; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5946295/fullTextXML"; rdfs:comment "The study population for this analysis included patients diagnosed with CRC and recruited in the DACHS study (Darmkrebs: Chancen der Verhütung durch Screening), an ongoing multi-center population-based case-control study with additional active follow-up of cases conducted in the Rhine-Neckar region in the South of Germany." . _:13c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5946295/fullTextXML"; rdfs:comment "The study population for this analysis included patients diagnosed with CRC and recruited in the DACHS study (Darmkrebs: Chancen der Verhütung durch Screening), an ongoing multi-center population-based case-control study with additional active follow-up of cases conducted in the Rhine-Neckar region in the South of Germany." . _:13c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267408"; "Genome-wide study of genetic polymorphisms predictive for outcome from first-line oxaliplatin-based chemotherapy in colorectal cancer patients."; "PMID:37539667", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37539667+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from two phase III trials, NCCTG N0147 and NCCTG N9741 and a population-based patient cohort, DACHS." . _:13c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre population-based case-control study of colorectal cancer in the Rhine-Neckar region of south-west Germany, led from the German Cancer Research Center in Heidelberg, which from 2003 recruited patients aged 30 or over with a first colorectal cancer diagnosis from the 22 hospitals treating the disease in the region, and actively follows the cases to study colorectal cancer risk, prevention by screening and survival."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5946295/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6264; "colorectal cancer patients and frequency-matched controls interviewed, recruited 2003-2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9940696/fullTextXML"; rdfs:comment "Smoking history and other known or suspected CRC risk factors were ascertained in detail in personal interviews among 6264 CRC patients and 6866 controls (frequency matched for age, sex, and county of residence) who were recruited in 2003-2020 in the DACHS study (Darmkrebs: Chancen der Verhütung durch Screening [German]; Colorectal Cancer: Chances for Prevention Through Screening [English]), a population-based case-control study from Germany." . _:13c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6866; "colorectal cancer patients and frequency-matched controls interviewed, recruited 2003-2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9940696/fullTextXML"; rdfs:comment "Smoking history and other known or suspected CRC risk factors were ascertained in detail in personal interviews among 6264 CRC patients and 6866 controls (frequency matched for age, sex, and county of residence) who were recruited in 2003-2020 in the DACHS study (Darmkrebs: Chancen der Verhütung durch Screening [German]; Colorectal Cancer: Chances for Prevention Through Screening [English]), a population-based case-control study from Germany." . _:13c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DACHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4917; ; , ; ; "GCST90271557"; "A UK resource of white European families with severe essential hypertension, collected by the Medical Research Council British Genetics of Hypertension (BRIGHT) study through the MRC General Practice Framework and other primary care practices (about 1,600 families with more than 2,000 affected sibling pairs, plus parent-offspring trios), with about 2,000 normotensive controls matched by age, sex and geography across the UK, for linkage and association studies of the genetics of hypertension."; "BRIGHT", "MRC British Genetics of Hypertension study"; ; rdfs:label "British Genetics of Hypertension study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4917 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4917; "essential hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12826435+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We phenotyped 2010 affected sibling pairs drawn from 1599 severely hypertensive families, and completed a 10 centimorgan genome-wide scan." . _:13cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2685752/fullTextXML"; rdfs:comment "The MRC British Genetics of Hypertension (BRIGHT) case–control samples have been recruited across UK (http://www.brightstudy.ac.uk)." . _:13cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271557"; "GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification."; "PMID:37679419", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484788/supplementaryFiles"; rdfs:comment "The BRIGHT study is extremely grateful to all the patients who participated in" . _:13cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK resource of white European families with severe essential hypertension, collected by the Medical Research Council British Genetics of Hypertension (BRIGHT) study through the MRC General Practice Framework and other primary care practices (about 1,600 families with more than 2,000 affected sibling pairs, plus parent-offspring trios), with about 2,000 normotensive controls matched by age, sex and geography across the UK, for linkage and association studies of the genetics of hypertension."; "PMID:12826435", "PMID:16754790", "PMID:19304780", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRIGHT"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , ; "GCST90244062"; "An international collaboration of investigators from many groups, institutions, countries and studies that meta-analyses genome-wide association and other large-scale genetic data to identify loci modulating human body size and shape, such as height, body mass index and waist-related traits, and releases the summary data."; 5380080; "GAINT", "GIANT", "GIANT consortium", "Genetic Investigation of ANthropometric Traits", "Genetic Investigation of ANthropometric Traits (GIANT) consortium", "Genetic Investigation of Anthropometric Traits Consortium", "Genetic Investigation of Anthropomorphic Traits"; ; rdfs:label "Genetic Investigation of ANthropometric Traits consortium"@en . _:13cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2606/MediaObjects/41588_2013_BFng2606_MOESM37_ESM.pdf"; rdfs:comment "EPIC-Obesity Study European Prospective Investigation into Cancer and Nutrition - Obesity Study Population-based White European 2566" . _:13d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-022-05275-y/MediaObjects/41586_2022_5275_MOESM3_ESM.xlsx"; rdfs:comment "EpiHealth | Epidemiology for Health | Population-based | European-ancestry | 2500 | ≥98% | 1) Gender mismatch; 2) Ethnic outliers; 3) Heterozygosity > 5 s.d. from the mean; 4) Cryptic relatedness. 5) Missing all phenotypes. | 2374 | Measured | PMID: 23435790 | Ethical Committee of Uppsala University" . _:13d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "EPOZ | Epidemiologisch Preventief Onderzoek Zoetermeer | EUR | 416" . _:13d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "EXTEND | Exeter 10,000 Study | EUR | 6200" . _:13d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.686/MediaObjects/41588_2010_BFng686_MOESM13_ESM.pdf"; rdfs:comment "Finrisk FINRISK 97 Population‐based 8447 N/A 1. Missing phenotypes 2. Missing DNA 7818 measured" . _:13d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "GRCCDS | Genomic Research Cohorts for CCMB Diabetes Study | SAS | 2219" . _:13d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3097/MediaObjects/41588_2014_BFng3097_MOESM4_ESM.pdf"; rdfs:comment "HERITAGE Family Study Health, Risk Factors, Training and Genetics (HERITAGE) Family Study Family Study, baseline data from an exercise training intervention 500 >99% NA 500 measured" . _:13d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "Hoorn | Hoorn study | EUR | 579" . _:13d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "INDICO | Indian Diabetes Consortium | SAS | 2197" . _:13d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "KODGP | Kuwait Obesity Diabetes Genetic Program | included in multi-ancestry meta-analysis only | 1294" . _:13d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "KSCS | Kangbuk Samsung Cohort Study | EAS | 2053" . _:13da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "NAFLD | NAFLD study | EUR | 449" . _:13db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3097/MediaObjects/41588_2014_BFng3097_MOESM4_ESM.pdf"; rdfs:comment "PROSPER/ PHASE The PROspective study of Pravastatin in the Elderly at Risk for vascular disease Randomized controlled trial 5.784 ≥ 97.5% 1) heterozygosity ; 2) ethnic outliers; 3) related individuals and duplicates; 5244 measured" . _:13dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-022-05275-y/MediaObjects/41586_2022_5275_MOESM3_ESM.xlsx"; rdfs:comment "QFS | Quebec Family Study | Population-based | European-ancestry | 929 | >95% | 1) missing phenotypes | 879 | Measured" . _:13dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "TromsoMig | Tromso-6 Migraine | EUR | 2996" . _:13de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "Vejle (T2D Cases) | Vejle Biobank T2D Cases | EUR | 3703" . _:13df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "ACD | Yonsei Avellino Corneal Dystrophy Study | EAS | 150" . _:13e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-022-05275-y/MediaObjects/41586_2022_5275_MOESM3_ESM.xlsx"; rdfs:comment "STRIP-PARENTS | Special Turku Coronary Risk Factor Intervention Project - Parents" . _:13e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244062"; "Smoking-Interaction Loci Affect Obesity Traits: A Gene-Smoking Stratified Meta-Analysis of 545,131 Europeans."; "PMID:35793639", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:35793639%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed stratified analysis based on the smoking status using both the UK Biobank (UKB) data (N = 334,808) and the Genetic Investigation of ANthropometric Traits (GIANT) data (N = 210,323) to identify gene-smoking interaction for obesity traits." . _:13e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaboration of investigators from many groups, institutions, countries and studies that meta-analyses genome-wide association and other large-scale genetic data to identify loci modulating human body size and shape, such as height, body mass index and waist-related traits, and releases the summary data."; "https://portals.broadinstitute.org/collaboration/giant/index.php/Main_Page"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5380080; "individuals in the 2022 GIANT height GWAS meta-analysis (281 studies, GIANT and 23andMe)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9605867/fullTextXML"; rdfs:comment "We performed genetic analysis of up to 5,380,080 individuals from 281 studies from the GIANT consortium and 23andMe." . _:13e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAINT"; . _:13e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIANT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4946; , , ; "GCST90034520"; "A population-based cohort of about 2,900 volunteers of Southern Chinese origin aged 15–55 in Hong Kong, openly recruited through newspaper advertisements, posters and e-mails regardless of back symptoms, who underwent lumbar spine MRI, questionnaires and genome-wide genotyping, to study the genetic and environmental determinants of intervertebral disc degeneration."; 2943; "HKDD", "HKDDDPC", "Hong Kong Disc Degeneration Cohort", "Hong Kong Disc Degeneration Population-Based Cohort"; ; rdfs:label "Hong Kong Degenerative Disc Disease Population Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4946 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4946; "lumbar disc degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27157501+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study examined the intercorrelations, risk factor associations, and single nucleotide polymorphism (SNP) heritabilities of lumbar disc MRI features in a large-scale sample to classify the different intervertebral disc phenotypes associated with LDD." . _:13e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "Hong Kong Degenerative Disc Disease Population Cohort (HKDDDPC) is a a population-based cohort with subjects openly recruited via newspapers advertisement, posters and e-mails, regardless of their social and economic status" . _:13e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90034520"; "Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations."; "PMID:34450027", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "Hong Kong Degenerative Disc Disease Population Cohort (HKDDDPC) is a a population-based cohort with subjects openly recruited via newspapers advertisement, posters and e-mails, regardless of their social and economic status" . _:13e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 2,900 volunteers of Southern Chinese origin aged 15–55 in Hong Kong, openly recruited through newspaper advertisements, posters and e-mails regardless of back symptoms, who underwent lumbar spine MRI, questionnaires and genome-wide genotyping, to study the genetic and environmental determinants of intervertebral disc degeneration."; "PMID:27157501", "PMID:34450027"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2943; "volunteers of Southern Chinese origin aged 15-55 with lumbar MRI"; "PMID:27157501"; rdfs:comment "A cross-sectional study was conducted consisting of 2,943 volunteers of Southern Chinese origin (mean age: 41.1 years; range: 15-55 years; 59.6% women)." . _:13eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKDD"; . _:13ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKDDDPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4954; , , , , , , , , , , , , , ; "GCST90455518"; "An international consortium established in 2004 by research groups leading large molecular epidemiology studies of lung cancer, which pools data from its member case-control and cohort studies to study lung cancer risk and prognosis; its OncoArray project genotyped about 36,000 participants of European descent."; 36000; "ILCCO", "INTEGRAL-ILCCO", "International Lung Cancer Consortium (Lung cancer OncoArray project)", "International Lung and Cancer Consortium", "OncoArray Project of the International Lung Cancer Consortium"; ; rdfs:label "International Lung Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4954 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:13ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4954; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3002160/fullTextXML"; rdfs:comment "We have therefore conducted a pooled analysis of tobacco smoking and risk of BAC within the framework of the International Lung Cancer Consortium (ILCCO), which includes completed and ongoing studies of molecular and genetic epidemiology of lung cancer [15], with the aim of providing a precise measurement of the association between tobacco smoking and BAC." . _:13ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4554719/"; rdfs:comment "Four lung cancer GWAS in the International Lung Cancer Consortium were used to identify variants associated with both lung cancer and first-degree family history of lung cancer: the Toronto study [Hung et al., 2008; McKay et al., 2008], the Central Europe study [Hung et al., 2008], the MD Anderson study [Amos et al., 2008], and the Germany study [Landi et al., 2009; Sauter et al., 2008]." . _:13ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8815061/fullTextXML"; rdfs:comment "The INTEGRAL-ILCCO project includes a total of 1,059 lung cancer cases and 899 controls from four sites: Harvard School of Public Health (HSPH), International Agency for Research on Cancer (IARC), University of Liverpool, and Mount Sinai Hospital and Princess Margaret Hospital in Toronto (Supplementary Table S1; ref. 17)." . _:13f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9402242/supplementaryFiles"; rdfs:comment "The imputed genotypes (reference panel: HRC r1.1) from 46,783 individuals from INTEGRAL (Integrative Analysis of Lung Cancer Etiology and Risk)-ILCCO (International Lung Cancer Consortium) lung cancer consortium were analyzed in this study. The subjects came from 9 independent studies: the OncoArray Consortium Lung Study (OncoArray), including 16,845 lung cancer cases and 13,057 controls, was used as the discovery. Individuals from another 8 smaller independent studies: Affymetrix Axiom Array Study (AFFY), the Genetic Epidemiology of Lung Cancer (GELCC) Consortium, the Environment and Genetics in Lung cancer Etiology study (EAGLE), the International Agency for Research on Cancer (IARC), MD Anderson Cancer Center Study (MDACC)" . _:13f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8815061/fullTextXML"; rdfs:comment "The INTEGRAL-ILCCO project includes a total of 1,059 lung cancer cases and 899 controls from four sites: Harvard School of Public Health (HSPH), International Agency for Research on Cancer (IARC), University of Liverpool, and Mount Sinai Hospital and Princess Margaret Hospital in Toronto (Supplementary Table S1; ref. 17)." . _:13f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5560148/fullTextXML"; rdfs:comment "In 2010 the CAPUA Study was included in the ILCCO (International Lung Cancer Consortium, http://ilcco.iarc.fr) and SYNERGY group (http://SYNERGY.iarc.fr) from the International Agency for Research on Cancer 29, 30." . _:13f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5824613/fullTextXML"; rdfs:comment "Four ILCCO studies are included in this pooled analysis. The collaborating cohorts have been described in detail previously [45–51]. These are the Carotene and Retinol Efficacy Trial (CARET), European Prospective Investigation into Cancer and Nutrition Study (EPIC), Shanghai Cohort Study (SCS), and Singapore Chinese Health Study (SCHS)." . _:13f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Copenhagen Copenhagen lung cancer study Copenhagen S. E. Bojesen Denmark Hosp.CC 2004 (controls) 2012-2013 (cases)" . _:13f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "LLP Liverpool Lung Cancer Project U. Liverpool J.K. Field UK Cohort 1999-2007, 1999-2011" . _:13f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "LUCY is a member of the International Lung Cancer COnsortium (ILCCO), which aims sharing comparable data from ongoing lung cancer case-control and cohort studies to achieve greater power, especially for subgroup analyses." . _:13f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NELCS New England Lung Cancer Study Dartmouth College A. Andrew USA Pop. CC 2005-2007" . _:13f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NICCC-LCA Clalit National Israeli Cancer Control Center- lung cancer study Carmel Medical Center & Technion G. Rennert Israel/ Europe Pop.CC 2005-ongoing" . _:13f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Nijmegen The Nijmegen Lung Cancer Study Radboud University Medical Centre L. A. Kiemeney The Netherlands Pop. CC 2002-2008" . _:13fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Norway Norway Lung Cancer Study NIOH A. Haugen Norway Pop. CC 1986-2005" . _:13fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "TLC Total Lung Cancer: Molecular Epidemiology of Lung Cancer Survival Moffitt Cancer Center, Tampa, FL M.B. Schabath USA case only 2012--present" . _:13fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90455518"; "Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk."; "PMID:39366959", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11452618/fullTextXML"; rdfs:comment "followed by a meta-analysis with the EA International Lung Cancer Consortium OncoArray study (ILCCO)7, for a total of 39,781 cases and 119,158 controls" . _:13fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium established in 2004 by research groups leading large molecular epidemiology studies of lung cancer, which pools data from its member case-control and cohort studies to study lung cancer risk and prognosis; its OncoArray project genotyped about 36,000 participants of European descent."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3002160/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5619832/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:13fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 36000; "European-descent subjects genotyped in the ILCCO OncoArray project (2017)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5619832/fullTextXML"; rdfs:comment "In this study, we analyzed OncoArray genotypic data of 36,000 subjects of European descent in ILCCO; among them, 17,037 provided individual epidemiological data and were of European descent." . _:13ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ILCCO"; . _:14002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTEGRAL-ILCCO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid4975, _:genid-371333f489424440b12a13b9d98ced822608-genid4977; , , , , , , , , , , , , , , , , ; "GCST90833072"; "A US National Institutes of Health initiative, started in 2012, that sequences the exomes and whole genomes of well-characterized participants of many Alzheimer disease cohorts, first from the Alzheimer's Disease Genetics Consortium and CHARGE consortium and later from ancestrally diverse cohorts, and integrates them with harmonized phenotypes to identify genetic risk and protective variants for Alzheimer disease and related dementias. Its fourth release comprised 36,361 whole genomes from 17 cohorts in 14 countries, 45% of its unique participants of non-European ancestry, and its fifth 58,507 genomes from 57 cohorts."; 57302; "ADSP"; ; rdfs:label "Alzheimer's Disease Sequencing Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid4975 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid4977 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4975; "related dementias"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40407102+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's disease and related dementias (ADRD) by integrating whole genome sequencing (WGS) with other genetic, phenotypic, and harmonized datasets from diverse populations." . _:14022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid4977; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40407102+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to understand the genetic architecture of Alzheimer's disease and related dementias (ADRD) by integrating whole genome sequencing (WGS) with other genetic, phenotypic, and harmonized datasets from diverse populations." . _:14032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Atherosclerosis Risk in Communities (ARIC)" . _:14042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Erasmus Rucphen Family (ERF)" . _:14052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Health and Retirement Study (HRS)" . _:14062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Multi-Institutional Research in Alzheimer’s Genetic Epidemiology (MIRAGE)" . _:14072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Rotterdam Study (RS)" . _:14082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Knight Alzheimer’s Disease Research Center (KGAD)" . _:14092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Alzheimer’s Disease Neuroimaging Initiative (ADNI)" . _:140a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Cardiovascular Health Study (CHS)" . _:140b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Framingham Heart Study (FHS)" . _:140c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Religious Orders Study/Memory and Aging Project (ROSMAP)" . _:140d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Wisconsin Registry for Alzheimer’s Prevention (WRAP)" . _:140e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "NIA Alzheimer’s Disease Research Centers (ADRC)" . _:140f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Adult Changes in Thought (ACT)" . _:14102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://adsp.niagads.org/data/contributing-cohorts/"; rdfs:comment "Minority Aging Research Study (MARS)" . _:14112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10663385/"; rdfs:comment "REAAADI, a sub-study of the Alzheimer’s Disease Sequencing Project (ADSP), is a multi-site study bringing together investigators at NC Agricultural and Technical State University, Wake Forest School of Medicine, University of Miami, Columbia University, and Case Western Reserve University." . _:14122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12100500/fullTextXML"; rdfs:comment "Gwangju Alzheimer and Related Dementias Study (GARD) (U01AG062602)" . _:14132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12100500/supplementaryFiles"; rdfs:comment "The LonGenity study at Albert Einstein College of Medicine has been recruiting community dwelling Ashkenazi Jewish seniors aged 65 or older in the United States since 2008." . _:14142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833072"; "Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease-associated genes in the Hispanic population."; "PMID:41755704", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41755704+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted genome-wide association studies (GWAS) and meta-analyses among subjects from the Alzheimer's Disease Sequencing Project (ADSP) Umbrella whole genome sequencing (WGS) dataset who self-identified as Hispanic" . _:14152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A US National Institutes of Health initiative, started in 2012, that sequences the exomes and whole genomes of well-characterized participants of many Alzheimer disease cohorts, first from the Alzheimer's Disease Genetics Consortium and CHARGE consortium and later from ancestrally diverse cohorts, and integrates them with harmonized phenotypes to identify genetic risk and protective variants for Alzheimer disease and related dementias. Its fourth release comprised 36,361 whole genomes from 17 cohorts in 14 countries, 45% of its unique participants of non-European ancestry, and its fifth 58,507 genomes from 57 cohorts."; "PMID:40407102", "https://adsp.niagads.org/", "https://dss.niagads.org/studies/sa000001/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 57302; "unique subjects with whole genomes in ADSP release 5 (58,507 genomes, 57 cohorts), 2024"; "https://adsp.niagads.org/data/data-summary/"; rdfs:comment "Population breakdown for 57,302 unique subjects: 6,875 African Ancestry, 5,523 Asian, 15,390 Hispanic/Latino, 29,107 Non-Hispanic White, and 307 Other/Unknown." . _:14172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADSP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5000, _:genid-371333f489424440b12a13b9d98ced822608-genid5002; , , ; ; "GCST90132185"; "A community-based birth cohort of about 3,000 singletons born in 1983-1984 in Cebu, Philippines, and their mothers, enrolled in pregnancy and followed with bimonthly surveys for two years and repeated follow-up surveys to age 35, run by the Office of Population Studies of the University of San Carlos and the University of North Carolina to study the long-term effects of early nutrition and life conditions on health."; 3080; "CLHNS", "Cebu Longitudinal Health and Nutrition Study"; ; rdfs:label "Cebu Longitudinal Health and Nutrition Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5000 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5002 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5000; "infant feeding and life conditions" . _:14192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5002; "early nutrition" . _:141a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8222184/fullTextXML"; rdfs:comment "Data come from the Cebu (Philippines) Longitudinal Health and Nutrition Survey (CLHNS) (Adair et al., 2011)." . _:141b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132185"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9179018/fullTextXML"; rdfs:comment "East Asian studies of Chinese, Japanese and Korean ancestry from those of Malay and Filipino ancestry (SIMES and CLHNS)" . _:141c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based birth cohort of about 3,000 singletons born in 1983-1984 in Cebu, Philippines, and their mothers, enrolled in pregnancy and followed with bimonthly surveys for two years and repeated follow-up surveys to age 35, run by the Office of Population Studies of the University of San Carlos and the University of North Carolina to study the long-term effects of early nutrition and life conditions on health."; "PMID:18426866", "PMID:33865193"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:141d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3080; "index children: singletons born 1983-1984 (mothers counted separately)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8222184/fullTextXML"; rdfs:comment "Singletons born in a one-year (1983−84) period (n = 3080) form the cohort of index children followed to age 35 years, with surveys every 2 months for the first 2 years, and follow-up surveys in 1991, 1994, 1998, 2002, 2005, 2009 and 2018." . _:141e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLHNS"; . a owl:NamedIndividual, ; , ; "GCST90837544"; "A population genomics study launched in 2019 by Intermountain Healthcare (Utah) in partnership with deCODE genetics and Amgen, aiming to enrol up to 500,000 adult patients (more than 170,000 by 2023) whose whole-genome sequence or genotype data are linked to health records, to discover genetic biomarkers of disease and return actionable findings to participants."; 174595; "HerediGene", "HerediGene study", "HerediGene: Population Study"; ; rdfs:label "HerediGene Population Study"@en . _:141f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8497462/fullTextXML"; rdfs:comment "Participants in the HerediGene: Population study are voluntary US residents over the age of 18 years." . _:14202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837544"; "Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction."; "PMID:41419686", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/fullTextXML"; rdfs:comment "HerediGene is a population study, a large-scale collaboration between Intermountain Healthcare, deCODE genetics and Amgen." . _:14212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population genomics study launched in 2019 by Intermountain Healthcare (Utah) in partnership with deCODE genetics and Amgen, aiming to enrol up to 500,000 adult patients (more than 170,000 by 2023) whose whole-genome sequence or genotype data are linked to health records, to discover genetic biomarkers of disease and return actionable findings to participants."; "PMID:38222332", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9693138/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 174595; "participants enrolled as of 20 March 2023 (enrolment ongoing, target up to 500,000)"; "https://europepmc.org/api/getPdf?pmcid=PMC10785925"; rdfs:comment "As of March 20, 2023, 174,595 participants have enrolled in the study (from all 50 US states) and 165,119 samples have been shipped to deCODE or to IPG for analysis." . _:14232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HerediGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5014, _:genid-371333f489424440b12a13b9d98ced822608-genid5016, _:genid-371333f489424440b12a13b9d98ced822608-genid5018, _:genid-371333f489424440b12a13b9d98ced822608-genid5020, _:genid-371333f489424440b12a13b9d98ced822608-genid5022; , ; "GCST90102434"; "A population-based case-control study of risk factors for cardiovascular outcomes among members of Group Health (now Kaiser Permanente Washington), an integrated health care system in western Washington State, with case groups of incident myocardial infarction, stroke, venous thromboembolism and atrial fibrillation and a shared control group frequency-matched to the myocardial infarction cases. Myocardial infarction, stroke and venous thromboembolism cases were identified from diagnosis codes (and, for venous thrombosis, heparin prescriptions) and validated by medical-record review; consenting participants gave blood for genotyping, and venous thromboembolism cases were followed for recurrence."; "HVH", "HVH study", "Heart and Vascular Health", "NVH"; ; rdfs:label "Heart and Vascular Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5014 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5016 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5018 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5020 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5022 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5014; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11617231/fullTextXML"; rdfs:comment "The HVH study is a population-based case-control study that includes individuals who experienced cardiovascular events, including a first VTE, and also included genetic analyses and performed a follow-up of the VTE cases for VTE recurrence." . _:14252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5016; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11617231/fullTextXML"; rdfs:comment "The HVH study is a population-based case-control study that includes individuals who experienced cardiovascular events, including a first VTE, and also included genetic analyses and performed a follow-up of the VTE cases for VTE recurrence." . _:14262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5018; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11617231/fullTextXML"; rdfs:comment "The HVH study is a population-based case-control study that includes individuals who experienced cardiovascular events, including a first VTE, and also included genetic analyses and performed a follow-up of the VTE cases for VTE recurrence." . _:14272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5020; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11617231/fullTextXML"; rdfs:comment "The HVH study is a population-based case-control study that includes individuals who experienced cardiovascular events, including a first VTE, and also included genetic analyses and performed a follow-up of the VTE cases for VTE recurrence." . _:14282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5022; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11617231/fullTextXML"; rdfs:comment "The HVH study is a population-based case-control study that includes individuals who experienced cardiovascular events, including a first VTE, and also included genetic analyses and performed a follow-up of the VTE cases for VTE recurrence." . _:14292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:39640909%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We aimed to externally validate models C and D using data from the United States Heart and Vascular Health (HVH) study." . _:142a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102434"; "The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction."; "PMID:35069183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8769168/fullTextXML"; rdfs:comment "This Heart and Vascular Health Study research was supported by NHLBI grants HL085251, HL073410, HL085251, and HL068986." . _:142b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of risk factors for cardiovascular outcomes among members of Group Health (now Kaiser Permanente Washington), an integrated health care system in western Washington State, with case groups of incident myocardial infarction, stroke, venous thromboembolism and atrial fibrillation and a shared control group frequency-matched to the myocardial infarction cases. Myocardial infarction, stroke and venous thromboembolism cases were identified from diagnosis codes (and, for venous thrombosis, heparin prescriptions) and validated by medical-record review; consenting participants gave blood for genotyping, and venous thromboembolism cases were followed for recurrence."; "https://pmc.ncbi.nlm.nih.gov/articles/instance/10152894/bin/NIHMS1835943-supplement-Supplemental_Publication_Material.pdf", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11617231/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:142c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HVH"; . _:142d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NVH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5029, _:genid-371333f489424440b12a13b9d98ced822608-genid5031; , ; "GCST000945", "PMID:25632367"; "A prospective registry and biorepository of Intermountain Healthcare, Utah, begun in 1993, that enrols consenting patients at the cardiac catheterisation laboratories of Intermountain hospitals in Salt Lake City and Ogden, with a blood sample taken at angiography and electronic follow-up for cardiovascular outcomes such as death, myocardial infarction, heart failure and stroke. It was later renamed the INSPIRE biobank registry and now collects samples and data from consenting Intermountain patients with any health condition."; "The acronym IHCS also denotes International HIV Controllers Study (COHO:0000917); this term is Intermountain Heart Collaborative Study."@en; 19000; "IHCS", "IMHC", "IMHS", "INSPIRE biobank registry", "Intermountain", "Intermountain Heart Study", "Intermountain Inspire Registry"; ; rdfs:label "Intermountain Heart Collaborative Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5029 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5031 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:142e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5029; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302371/fullTextXML"; rdfs:comment "IHCS enrolls patients admitted to Intermountain catheterization labs (Intermountain Medical Center: Salt Lake City, UT; LDS Hospital: Salt Lake City, UT; and McKay Dee Hospital, Ogden, UT) [24]." . _:142f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5031; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302371/fullTextXML"; rdfs:comment "IHCS enrolls patients admitted to Intermountain catheterization labs (Intermountain Medical Center: Salt Lake City, UT; LDS Hospital: Salt Lake City, UT; and McKay Dee Hospital, Ogden, UT) [24]." . _:14302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302371/fullTextXML"; rdfs:comment "IHCS enrolls patients admitted to Intermountain catheterization labs (Intermountain Medical Center: Salt Lake City, UT; LDS Hospital: Salt Lake City, UT; and McKay Dee Hospital, Ogden, UT) [24]." . _:14312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000945"; "Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies."; "PMID:21239051", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3297116/"; rdfs:comment "The meta-analysis of angiographic CAD versus control was restricted to those studies that ascertained both cases and controls via coronary angiography. These were PennCath, MedStar, Emory GeneBank, the Intermountain Heart Collaborative Study, and Verona Heart Study." . _:14322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25632367"; "Antithrombotic therapy in patients with acute coronary syndrome in the intermountain heart collaborative study."; "PMID:25632367", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302371/fullTextXML"; rdfs:comment "Study subjects were identified from all persons registered in the Intermountain Heart Collaborative Study (IHCS) with a diagnosis of ACS between 2004 and 2009" . _:14332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective registry and biorepository of Intermountain Healthcare, Utah, begun in 1993, that enrols consenting patients at the cardiac catheterisation laboratories of Intermountain hospitals in Salt Lake City and Ogden, with a blood sample taken at angiography and electronic follow-up for cardiovascular outcomes such as death, myocardial infarction, heart failure and stroke. It was later renamed the INSPIRE biobank registry and now collects samples and data from consenting Intermountain patients with any health condition."; "PMID:29803983", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482040/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302371/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19000; "unique subjects enrolled in the registry 1994-2012 (catheterisation patients)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482040/fullTextXML"; rdfs:comment "The INSPIRE biobank registry began in 1993 (19) and had a total of 19,000 unique subjects enrolled from 1994 to 2012." . _:14352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IHCS"; . _:14362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMHC"; . _:14372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMHS"; . _:14382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Intermountain"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5042; , ; "GCST90566795"; "A population-based prospective cohort of African American and white civilian, non-institutionalised adults aged 45 years or older living in six townships of Johnston County, North Carolina, sampled regardless of osteoarthritis status, of whom 3,187 were enrolled in 1991-1997 and a further 1,015 in 2003-2004 to enrich the cohort for Black and younger adults, and followed about every five years to estimate the incidence and progression of knee and hip osteoarthritis and later of hand, spine and foot osteoarthritis."; 3187; "JOCO", "JoCo OA", "JoCoOA", "The Johnston County Osteoarthritis Project"; ; rdfs:label "Johnston County Osteoarthritis Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5042; "osteoarthritis"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "JoCo OA began in 1990 as a community-based prospective cohort of European-ancestry and African American men and women with and without osteoarthritis (OA)." . _:143a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "At baseline, 3187 European-ancestry and African American adults aged 45 years or older (35% men; 32% African American; mean age 61±10 years) were recruited from six townships in Johnston County, North Carolina, and completed a clinical examination visit during 1991– 1997." . _:143b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90566795"; "Translational genomics of osteoarthritis in 1,962,069 individuals."; "PMID:40205036", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "JoCo OA began in 1990 as a community-based prospective cohort of European-ancestry and African American men and women with and without osteoarthritis (OA)." . _:143c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of African American and white civilian, non-institutionalised adults aged 45 years or older living in six townships of Johnston County, North Carolina, sampled regardless of osteoarthritis status, of whom 3,187 were enrolled in 1991-1997 and a further 1,015 in 2003-2004 to enrich the cohort for Black and younger adults, and followed about every five years to estimate the incidence and progression of knee and hip osteoarthritis and later of hand, spine and foot osteoarthritis."; "PMID:19286855", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8854450/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9387345/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:143d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3187; "original cohort enrolled 1991-1998 only; the 2003-2004 enrichment cohort (n = 1015) is additional"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9387345/fullTextXML"; rdfs:comment "Civilian, non-institutionalized residents aged 45+ years from six townships in Johnston County were enrolled between 1991 and 1998 (n = 3187, Original Cohort), and additional residents were enrolled from 2003 to 2004 (n = 1015, Enrichment Cohort)." . _:143e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JOCO"; . _:143f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JoCo OA"; . _:14402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JoCoOA"; . a owl:NamedIndividual, ; , ; , , ; "GCST90000059"; "A prospective population-based cohort of about 28,000 Indian Asian (South Asian) and European men and women aged 35 to 75, recruited in 2003-2008 from the lists of 58 general practitioners in West London, UK, with a structured cardiovascular and metabolic assessment and stored blood, to study the excess cardiometabolic risk of South Asians."; 28000; "LOLIPOP", "London Life Sciences Population Study"; ; rdfs:label "London Life Sciences Prospective Population Study"@en . _:14412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7789600/fullTextXML"; rdfs:comment "The London Life Sciences Prospective Population Study (LOLIPOP) is a prospective cohort study of ~ 28000 Indian Asian and European men and women, recruited from the lists of 58 General Practitioners in West London, UK, between 2003 and 2008." . _:14422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000059"; "Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals."; "PMID:33230300", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610439/supplementaryFiles"; rdfs:comment "The LOLIPOP study is supported by the National Institute for Health Research (NIHR)" . _:14432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of about 28,000 Indian Asian (South Asian) and European men and women aged 35 to 75, recruited in 2003-2008 from the lists of 58 general practitioners in West London, UK, with a structured cardiovascular and metabolic assessment and stored blood, to study the excess cardiometabolic risk of South Asians."; "PMID:27195708", "PMID:33413638"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 28000; "Indian Asian and European men and women recruited 2003-2008 (approximate)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7789600/fullTextXML"; rdfs:comment "The London Life Sciences Prospective Population Study (LOLIPOP) is a prospective cohort study of ~ 28000 Indian Asian and European men and women, recruited from the lists of 58 General Practitioners in West London, UK, between 2003 and 2008." . _:14452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LOLIPOP"; . a owl:NamedIndividual, ; , , , , , , ; "GCST90502777"; "A cohort of 2,762 women from Korea, Vietnam, Thailand and Indonesia, established by Korean researchers with measurements of 26 skin traits, skin-related surveys and whole-genome sequencing-based genotyping, to study the genetic and non-genetic determinants of skin traits and their variation across Asian countries."; 2762; "ASTAGR", "Asian Skin Traits and Genetic Research"; ; rdfs:label "Asian Skin Traits and Genetics Research"@en . _:14462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40010489+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this study, we established the ASTAGR (Asian Skin Traits and Genetics Research) cohort, comprising 2762 female participants from 4 Asian countries (Korea, Vietnam, Thailand, and Indonesia)." . _:14472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502777"; "Comprehensive Profiling of Genetic and Nongenetic Factors that Influence Skin Traits in Asian Women from 4 Countries."; "PMID:40010489", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40010489+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this study, we established the ASTAGR (Asian Skin Traits and Genetics Research) cohort, comprising 2762 female participants from 4 Asian countries (Korea, Vietnam, Thailand, and Indonesia)." . _:14482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 2,762 women from Korea, Vietnam, Thailand and Indonesia, established by Korean researchers with measurements of 26 skin traits, skin-related surveys and whole-genome sequencing-based genotyping, to study the genetic and non-genetic determinants of skin traits and their variation across Asian countries."; "PMID:40010489"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2762; "women from Korea, Vietnam, Thailand and Indonesia"; "PMID:40010489"; rdfs:comment "In this study, we established the ASTAGR (Asian Skin Traits and Genetics Research) cohort, comprising 2762 female participants from 4 Asian countries (Korea, Vietnam, Thailand, and Indonesia)." . _:144a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASTAGR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5061, _:genid-371333f489424440b12a13b9d98ced822608-genid5063, _:genid-371333f489424440b12a13b9d98ced822608-genid5065, _:genid-371333f489424440b12a13b9d98ced822608-genid5067, _:genid-371333f489424440b12a13b9d98ced822608-genid5069; , ; ; "GCST90102456"; "A population-based case-control study of colon cancer, with cases diagnosed in 1991–1994 and age- and sex-matched controls recruited from the Kaiser Permanente Medical Care Program of Northern California, Utah and the Twin Cities of Minnesota, extended in 1997–2001 by a parallel study of rectal cancer in Utah and Kaiser Permanente, collecting diet, physical activity and other lifestyle data to study their relation to colorectal cancer."; 1993; 2410; "DALS", "Diet, Activity, and Lifestyle Study"; ; rdfs:label "Diet, Activity and Lifestyle Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5061 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5063 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5065 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5067 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5069 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:144b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5061; "rectal cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3913564/unicode"; rdfs:comment "We genotyped candidate polymorphisms and tagSNPs in PTGS1 (COX-1) and PTGS2 (COX-2) in a population-based case-control study (Diet, Activity and Lifestyle Study, DALS) of colon cancer (n=1470 cases/1837 controls) and rectal cancer (n=583/775), and independently among cases and controls from the Colon Cancer Family Registry (CCFR; colon n= 959/1535, rectal n= 505/839)." . _:144c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5063; "colon cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3913564/unicode"; rdfs:comment "We genotyped candidate polymorphisms and tagSNPs in PTGS1 (COX-1) and PTGS2 (COX-2) in a population-based case-control study (Diet, Activity and Lifestyle Study, DALS) of colon cancer (n=1470 cases/1837 controls) and rectal cancer (n=583/775), and independently among cases and controls from the Colon Cancer Family Registry (CCFR; colon n= 959/1535, rectal n= 505/839)." . _:144d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5065; "lifestyle"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3913564/unicode"; rdfs:comment "Diet, physical activity, smoking, anthropometry, medical history, NSAID use, family history of cancer, demographics, race/ethnicity, and reproductive history data were obtained by questionnaire." . _:144e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5067; "diet"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3913564/unicode"; rdfs:comment "Diet, physical activity, smoking, anthropometry, medical history, NSAID use, family history of cancer, demographics, race/ethnicity, and reproductive history data were obtained by questionnaire." . _:144f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5069; "physical activity"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3913564/unicode"; rdfs:comment "Diet, physical activity, smoking, anthropometry, medical history, NSAID use, family history of cancer, demographics, race/ethnicity, and reproductive history data were obtained by questionnaire." . _:14502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3005543/unicode"; rdfs:comment "Cases and controls were recruited from the Kaiser Permanente Medical Care Program of Northern California, an eight-county area in Utah, and the metropolitan Twin Cities of Minnesota." . _:14512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102456"; "Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival."; "PMID:34996992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8741984/fullTextXML"; rdfs:comment "the Diet Activity and Lifestyle Study (DALS)37" . _:14522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of colon cancer, with cases diagnosed in 1991–1994 and age- and sex-matched controls recruited from the Kaiser Permanente Medical Care Program of Northern California, Utah and the Twin Cities of Minnesota, extended in 1997–2001 by a parallel study of rectal cancer in Utah and Kaiser Permanente, collecting diet, physical activity and other lifestyle data to study their relation to colorectal cancer."; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3005543/unicode", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3913564/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1993; "colon cancer cases and controls who took part (1991-1994 colon study)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3017062/fullTextXML"; rdfs:comment "Of the cases who were asked to participate in the study, 76% (n = 1,993) cooperated, of whom 83% (n = 1,676) provided a blood sample for DNA extraction. Controls in DALS were frequency matched to cases by 5-year age groups and sex. Controls from KPMCP were randomly selected from membership lists. In Utah, controls who were under 65 years of age were randomly selected from lists generated using random-digit dialing and driver license lists, and those 65 years of age and older were randomly selected from Health Care Financing Administration lists. In Minnesota, control participants were identified from drivers license or state identification lists. Of the controls asked to participate, 64% (n = 2,410) cooperated, of whom 85% (n = 2,004) provided a blood sample for DNA extraction." . _:14542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2410; "colon cancer cases and controls who took part (1991-1994 colon study)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3017062/fullTextXML"; rdfs:comment "Of the cases who were asked to participate in the study, 76% (n = 1,993) cooperated, of whom 83% (n = 1,676) provided a blood sample for DNA extraction. Controls in DALS were frequency matched to cases by 5-year age groups and sex. Controls from KPMCP were randomly selected from membership lists. In Utah, controls who were under 65 years of age were randomly selected from lists generated using random-digit dialing and driver license lists, and those 65 years of age and older were randomly selected from Health Care Financing Administration lists. In Minnesota, control participants were identified from drivers license or state identification lists. Of the controls asked to participate, 64% (n = 2,410) cooperated, of whom 85% (n = 2,004) provided a blood sample for DNA extraction." . _:14552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DALS"; . a owl:NamedIndividual, ; , ; "GCST90451684"; "A prospective population-based study of aging of 1,453 residents aged 20 to 102, mostly older people, selected by multistage sampling from the registries of Greve in Chianti and Bagno a Ripoli in Tuscany, Italy, examined at baseline in 1998-2000 and followed up to identify risk factors for the loss of walking ability and other age-related decline."; 1453; "Aging in Chianti", "INCHIANTI", "InCHIANTI", "InCHIANTI study", "The Invecchiare in Chianti"; ; rdfs:label "Invecchiare in Chianti"@en . _:14562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12452345/fullTextXML"; rdfs:comment "The InCHIANTI (“Invecchiare in Chianti”) study is a prospective study of aging conducted in two municipalities (Bagno a Ripoli and Greve in Chianti) in Tuscany, Italy." . _:14572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451684"; "Novel loci and biomedical consequences of iron homoeostasis variation."; "PMID:39643614", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11624196/fullTextXML"; rdfs:comment "InCHIANTI. The study baseline (1998-2000) was supported by the Italian Ministry of Health (ICS110.1/RF97.71)" . _:14582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based study of aging of 1,453 residents aged 20 to 102, mostly older people, selected by multistage sampling from the registries of Greve in Chianti and Bagno a Ripoli in Tuscany, Italy, examined at baseline in 1998-2000 and followed up to identify risk factors for the loss of walking ability and other age-related decline."; "PMID:11129752", "PMID:40981293"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1453; "participants recruited at baseline, aged 20-102 (1998-2000)"; "PMID:40981293"; rdfs:comment "In brief, a total of 1453 participants spanning various age groups were recruited at baseline in 1998–2000 via two-stage sampling methods and then followed longitudinally." . _:145a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INCHIANTI"; . _:145b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "InCHIANTI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5083, _:genid-371333f489424440b12a13b9d98ced822608-genid5085, _:genid-371333f489424440b12a13b9d98ced822608-genid5087, _:genid-371333f489424440b12a13b9d98ced822608-genid5089, _:genid-371333f489424440b12a13b9d98ced822608-genid5091, _:genid-371333f489424440b12a13b9d98ced822608-genid5093; , , ; "GCST90090964"; "A Japanese multi-institutional genome cohort, launched in 2005, of 92,610 adults aged 35–69 years from 14 study regions in 12 prefectures (respondents to study announcements, people attending local-government health checkups or health checkup centres, and first-visit patients at a cancer hospital), who gave baseline questionnaire data and blood samples in 2005–2014 and are followed until 2025, to examine gene–environment interactions in lifestyle-related diseases, mainly cancer."; 92610; "J-MICC", "J-MICC Study", "Japan Multi-Institutional Collaborative Cohort", "The Japan Multi-institutional Collaborative Cohort Study"; ; rdfs:label "Japan Multi-Institutional Collaborative Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5083 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5085 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5087 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5089 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5091 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5093 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:145c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5083; "alcohol consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32963210+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Multi-institutional Collaborative Cohort (J-MICC) study was launched in 2005 to examine gene-environment interactions in lifestyle-related diseases, including cancers, among the Japanese." . _:145d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5085; "exercise"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32963210+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Multi-institutional Collaborative Cohort (J-MICC) study was launched in 2005 to examine gene-environment interactions in lifestyle-related diseases, including cancers, among the Japanese." . _:145e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5087; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32963210+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Multi-institutional Collaborative Cohort (J-MICC) study was launched in 2005 to examine gene-environment interactions in lifestyle-related diseases, including cancers, among the Japanese." . _:145f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5089; "lifestyle factors in gene-environment interactions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32963210+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Multi-institutional Collaborative Cohort (J-MICC) study was launched in 2005 to examine gene-environment interactions in lifestyle-related diseases, including cancers, among the Japanese." . _:14602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5091; "food intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32963210+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Multi-institutional Collaborative Cohort (J-MICC) study was launched in 2005 to examine gene-environment interactions in lifestyle-related diseases, including cancers, among the Japanese." . _:14612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5093; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17696755+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Although the main purpose is to confirm and detect gene-environment interactions of lifestyle-related diseases, mainly of cancer, through the cohort analyses, it includes cross-sectional analyses on lifestyle factors, biomarkers, and genotypes, as well as confirmation/ screening of new biomarkers usable for early diagnosis of cancer. The endpoints are cancer diagnosis and death." . _:14622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7938099/fullTextXML"; rdfs:comment "The Japan Multi-Institutional Collaborative Cohort (J-MICC) Study is a large population-based genome cohort study in which about 100,000 participants from 15 study areas of Japan are being followed up for 20 years for cancer incidence." . _:14632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90090964"; "A genome-wide association study on meat consumption in a Japanese population: the Japan Multi-Institutional Collaborative Cohort study."; "PMID:34733494", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34733494+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analysed GWAS data using 14 076 participants from the Japan Multi-Institutional Collaborative Cohort (J-MICC) study." . _:14642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Japanese multi-institutional genome cohort, launched in 2005, of 92,610 adults aged 35–69 years from 14 study regions in 12 prefectures (respondents to study announcements, people attending local-government health checkups or health checkup centres, and first-visit patients at a cancer hospital), who gave baseline questionnaire data and blood samples in 2005–2014 and are followed until 2025, to examine gene–environment interactions in lifestyle-related diseases, mainly cancer."; "PMID:17696755", "PMID:32963210"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 92610; "adults aged 35-69 in the baseline survey (2005-2014)"; "PMID:32963210"; rdfs:comment "After excluding 8,294 respondents under 35 or over 70 years of age and 578 who withdrew consent or became ineligible, the remaining 92,610 participants (40,880 men and 51,730 women with an average age of 55.2 [standard deviation, 9.4] years) in the baseline survey were included in the present analysis (the dataset was fixed on February 2, 2020)." . _:14662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "J-MICC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5100; , ; ; "GCST001153", "PMID:25429525"; "A case-control study of urinary bladder cancer run from Radboud University Medical Center in Nijmegen, the Netherlands, in which patients diagnosed from 1995 to 2010 under the age of 76 and living in the catchment area of seven hospitals in the east of the country were identified through the Netherlands Cancer Registry and invited in batches, with controls drawn from the Nijmegen Biomedical Study, to study genetic and lifestyle risk factors and outcomes of bladder cancer."; "The acronym NBCS also denotes Norwegian Breast Cancer Study (COHO:0000573) and Nigerian Breast Cancer Study (COHO:0001381); this term is Nijmegen Bladder Cancer Study."@en; 1809; 4370; "NBCS"; ; rdfs:label "Nijmegen Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5100 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5100; "urinary bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4453642/fullTextXML"; rdfs:comment "In this study, we analysed data of the Nijmegen Bladder Cancer Study (NBCS), one of the largest case–control studies for UBC worldwide, as to gain better insights into the role of recurrent infections of the (lower) urinary tract as a risk factor for UBC." . _:14682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4453642/fullTextXML"; rdfs:comment "Within the framework of the NBCS, UBC patients living in the catchment area of seven hospitals in the eastern part of the country were identified through the Netherlands Cancer Registry (NCR) held by the Comprehensive Cancer Centre the Netherlands (IKNL) (Kiemeney et al, 2008)." . _:14692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001153"; "European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene."; "PMID:21750109", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The Dutch patients were recruited for the Nijmegen Bladder Cancer Study (NBCS: http://dceg.cancer.gov/icbc/membership.html)." . _:146a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25429525"; "Recurrent urinary tract infection and risk of bladder cancer in the Nijmegen bladder cancer study."; "PMID:25429525", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4453642/fullTextXML"; rdfs:comment "In this study, we analysed data of the Nijmegen Bladder Cancer Study (NBCS), one of the largest case–control studies for UBC worldwide, as to gain better insights into the role of recurrent infections of the (lower) urinary tract as a risk factor for UBC." . _:146b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of urinary bladder cancer run from Radboud University Medical Center in Nijmegen, the Netherlands, in which patients diagnosed from 1995 to 2010 under the age of 76 and living in the catchment area of seven hospitals in the east of the country were identified through the Netherlands Cancer Registry and invited in batches, with controls drawn from the Nijmegen Biomedical Study, to study genetic and lifestyle risk factors and outcomes of bladder cancer."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4453642/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:146c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1809; "analysed subset: Caucasian bladder cancer patients and Nijmegen Biomedical Study controls"; "PMID:25429525"; rdfs:comment "This study included 1809 UBC patients (81% male) and 4370 controls (45% male)." . _:146d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4370; "analysed subset: Caucasian bladder cancer patients and Nijmegen Biomedical Study controls"; "PMID:25429525"; rdfs:comment "This study included 1809 UBC patients (81% male) and 4370 controls (45% male)." . _:146e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5109; , ; ; "GCST90128530"; "A Norwegian breast cancer case-control study in the Breast Cancer Association Consortium, whose cases are incident breast cancers from Ullevål University Hospital (1990–1994), the Norwegian Radium Hospital (1975–1986 and 1995–1998) and Haukeland University Hospital (1992–2001) and whose controls are women from Tromsø and Bergen who attended the Norwegian Breast Cancer Screening Program. It also includes a sub-study of women attending the national mammography screening programme in 2002–2007 who gave blood and breast biopsies with mammographic density measurements, and its normal and tumour breast tissue samples are used in gene expression studies."; "The acronym NBCS also denotes Nijmegen Bladder Cancer Study (COHO:0000572) and Nigerian Breast Cancer Study (COHO:0001381); this term is Norwegian Breast Cancer Study."@en; "NBCS", "NorBCS"; ; rdfs:label "Norwegian Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5109 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:146f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5109; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5065698/fullTextXML"; rdfs:comment "To identify potential target gene(s), we examined the associations of the three lead SNPs with expression levels of genes located within 1 Mb in three different studies: (1) 116 normal breast samples and 241 breast tumors from the Norwegian Breast Cancer Study (NBCS)" . _:14702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "This NBCS sub-study involves women attending the Norwegian national mammography screening program from 2002 to 2007 and biopsies were taken from breasts with varying mammographic density and newly diagnosed breast cancers (ethical approval S-02036)." . _:14712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "This NBCS sub-study involves women attending the Norwegian national mammography screening program from 2002 to 2007 and biopsies were taken from breasts with varying mammographic density and newly diagnosed breast cancers (ethical approval S-02036)." . _:14722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Norwegian breast cancer case-control study in the Breast Cancer Association Consortium, whose cases are incident breast cancers from Ullevål University Hospital (1990–1994), the Norwegian Radium Hospital (1975–1986 and 1995–1998) and Haukeland University Hospital (1992–2001) and whose controls are women from Tromsø and Bergen who attended the Norwegian Breast Cancer Screening Program. It also includes a sub-study of women attending the national mammography screening programme in 2002–2007 who gave blood and breast biopsies with mammographic density measurements, and its normal and tumour breast tissue samples are used in gene expression studies."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5065698/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBCS"; . _:14742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NorBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5116, _:genid-371333f489424440b12a13b9d98ced822608-genid5118, _:genid-371333f489424440b12a13b9d98ced822608-genid5120, _:genid-371333f489424440b12a13b9d98ced822608-genid5122; , ; "GCST90137411"; "A population-based cohort of 43,794 men and women aged 40–69 randomly sampled from the population of Queensland, Australia, in 2011, with baseline questionnaires on pigmentation, sun exposure, sun protection and skin cancer history and linkage to national health insurance, cancer registry and pathology records, to study the development of skin cancer and melanoma in the population with the highest reported incidence in the world."; 43794; "QSKIN", "QSKIN Genetics", "QSkin", "Qskin"; ; rdfs:label "QSkin Sun and Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5116 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5118 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5120 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5122 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5116; "use of tanning beds"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "At baseline, besides demographic items and general medical history, information about standard pigmentary characteristics (including hair and eye colour, freckling tendency, tanning ability and propensity to sunburn), past and recent history of sun exposure and sunburns, sun protection behaviours, use of tanning beds and history of skin cancer was collected by self-completed questionnaire." . _:14762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5118; "sun exposure and sunburns"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "At baseline, besides demographic items and general medical history, information about standard pigmentary characteristics (including hair and eye colour, freckling tendency, tanning ability and propensity to sunburn), past and recent history of sun exposure and sunburns, sun protection behaviours, use of tanning beds and history of skin cancer was collected by self-completed questionnaire." . _:14772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5120; "skin cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort was established to study the development of skin cancer and melanoma in the population with the highest reported incidence of these diseases in the world." . _:14782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5122; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort was established to study the development of skin cancer and melanoma in the population with the highest reported incidence of these diseases in the world." . _:14792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The QSkin Sun and Health Study comprises a cohort of 43 794 men and women aged 40-69 years randomly sampled from the population of Queensland, Australia in 2011." . _:147a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90137411"; "A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma."; "PMID:36496446", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9741635/fullTextXML"; rdfs:comment "KC from the QSkin Sun and Health Study (QSkin)21" . _:147b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 43,794 men and women aged 40–69 randomly sampled from the population of Queensland, Australia, in 2011, with baseline questionnaires on pigmentation, sun exposure, sun protection and skin cancer history and linkage to national health insurance, cancer registry and pathology records, to study the development of skin cancer and melanoma in the population with the highest reported incidence in the world."; "PMID:22933644"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:147c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 43794; "men and women aged 40-69 sampled in 2011"; "PMID:22933644"; rdfs:comment "The QSkin Sun and Health Study comprises a cohort of 43 794 men and women aged 40-69 years randomly sampled from the population of Queensland, Australia in 2011." . _:147d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QSKIN"; . _:147e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QSkin"; . _:147f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Qskin"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5131; , , ; "GCST90566795"; "A Japanese knee osteoarthritis case-control collection assembled at the RIKEN Center for Genomic Medicine, of about 900 symptomatic knee osteoarthritis cases diagnosed by orthopaedic surgeons from clinical and radiographic examination at several Japanese medical institutes and about 3,400 controls from BioBank Japan and Osaka volunteers, genotyped genome-wide to find knee osteoarthritis susceptibility loci."; "The acronym RIKEN also denotes BioBank Japan (COHO:0000377) and RIKEN cohort (COHO:0000576); this term is RIKEN Study."@en; 906; 3396; "Japan Study", "RIKEN"; ; rdfs:label "RIKEN Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5131 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5131; "knee osteoarthritis"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "RIKEN Study The Japanese cohort of knee osteoarthritis GWAS (disease cohort) consists of 900 cases and 3,400 controls." . _:14812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2841168/fullTextXML"; rdfs:comment "Case samples of GWAS for the Japanese population were obtained from several medical institutes in Japan, as previously described [5], [7]." . _:14822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90566795"; "Translational genomics of osteoarthritis in 1,962,069 individuals."; "PMID:40205036", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12119359/fullTextXML"; rdfs:comment "The sensitivity meta-analysis includes 5 GWASs from the HKDDDPC, RIKEN and Rotterdam studies 1, 2 and 3, totalling a maximum of 6,816 cases and 9,624 controls" . _:14832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Japanese knee osteoarthritis case-control collection assembled at the RIKEN Center for Genomic Medicine, of about 900 symptomatic knee osteoarthritis cases diagnosed by orthopaedic surgeons from clinical and radiographic examination at several Japanese medical institutes and about 3,400 controls from BioBank Japan and Osaka volunteers, genotyped genome-wide to find knee osteoarthritis susceptibility loci."; "PMID:20305777", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 906; "knee osteoarthritis cases and controls genotyped in the GWAS"; "PMID:20305777"; rdfs:comment "We examined 906 individuals with knee OA and 3,396 control individuals (Table 1) using Illumina HumanHap550v3 Genotyping BeadChip." . _:14852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3396; "knee osteoarthritis cases and controls genotyped in the GWAS"; "PMID:20305777"; rdfs:comment "We examined 906 individuals with knee OA and 3,396 control individuals (Table 1) using Illumina HumanHap550v3 Genotyping BeadChip." . _:14862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RIKEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5139; , , ; "GCST90133314"; "A Japanese pharmacogenetic cohort of 219 patients with metastatic renal cell carcinoma treated with sunitinib, recruited from 15 Japanese medical institutes with data collected at the laboratory for pharmacogenomics of the RIKEN Center for Integrative Medical Sciences, to study germline genetic variants related to sunitinib toxicity and efficacy."; "The acronym RIKEN also denotes BioBank Japan (COHO:0000377) and RIKEN Study (COHO:0000575); this term is RIKEN cohort."@en; 219; "RIKEN"; ; rdfs:label "RIKEN cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5139 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5139; "metastatic renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9220885/fullTextXML"; rdfs:comment "For the RIKEN cohort, a total of 219 mRCC patients treated with sunitinib were recruited from 15 Japanese medical institutes." . _:14882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9220885/fullTextXML"; rdfs:comment "For the RIKEN cohort, a total of 219 mRCC patients treated with sunitinib were recruited from 15 Japanese medical institutes." . _:14892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90133314"; "Genome-Wide Meta-Analysis Identifies Variants in DSCAM and PDLIM3 That Correlate with Efficacy Outcomes in Metastatic Renal Cell Carcinoma Patients Treated with Sunitinib."; "PMID:35740506", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35740506+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We included mRCC patients from the European EuroTARGET consortium (n = 550) and the RIKEN cohort in Japan (n = 204) which were analysed separately and in a meta-analysis of genome-wide association studies (GWAS)." . _:148a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Japanese pharmacogenetic cohort of 219 patients with metastatic renal cell carcinoma treated with sunitinib, recruited from 15 Japanese medical institutes with data collected at the laboratory for pharmacogenomics of the RIKEN Center for Integrative Medical Sciences, to study germline genetic variants related to sunitinib toxicity and efficacy."; "PMID:26914831", "PMID:35740506"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:148b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 219; "sunitinib-treated metastatic renal cell carcinoma patients recruited"; "PMID:35740506"; rdfs:comment "For the RIKEN cohort, a total of 219 mRCC patients treated with sunitinib were recruited from 15 Japanese medical institutes." . _:148c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RIKEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5146; , ; , , ; "GCST90504004"; "A population-based prospective cohort of women born 1914–1948 living in Uppsala and Västmanland counties in central Sweden, established in 1987–1990 among the 90,303 women invited to mammography screening who completed a food frequency questionnaire, re-surveyed in 1997 and followed through linkage to Swedish national registers to study diet, lifestyle and chronic disease, notably cancer."; 66651; "SMC", "Samsung"; ; rdfs:label "Swedish Mammography Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5146 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:148d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5146; "diet (food frequency questionnaire)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13282369/fullTextXML"; rdfs:comment "The Swedish Mammography Cohort (SMC) [17] was established in 1987–1990 when 90,303 women born between 1914–48 and living in central Sweden (Uppsala or Västmanland counties) were invited to participate in a mammography screening program and to complete a food frequency questionnaire (FFQ) (74% response rate)." . _:148e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13282369/fullTextXML"; rdfs:comment "The Swedish Mammography Cohort (SMC) [17] was established in 1987–1990 when 90,303 women born between 1914–48 and living in central Sweden (Uppsala or Västmanland counties) were invited to participate in a mammography screening program and to complete a food frequency questionnaire (FFQ) (74% response rate)." . _:148f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "Swedish Mammography Cohort and Cohort of Swedish Men: This work is supported by the Swedish Research Council/Infrastructure grant, the Swedish Cancer Foundation, and the Karolinska Institute's Distinguished Professor Award to Alicja Wolk." . _:14902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of women born 1914–1948 living in Uppsala and Västmanland counties in central Sweden, established in 1987–1990 among the 90,303 women invited to mammography screening who completed a food frequency questionnaire, re-surveyed in 1997 and followed through linkage to Swedish national registers to study diet, lifestyle and chronic disease, notably cancer."; "PMID:42319504"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 66651; "women who took part at the 1987-1990 baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11663681/fullTextXML"; rdfs:comment "Ultimately, 66,651 women participated in SMC in 1987–1990 (74% response rate)." . _:14922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMC"; . _:14932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Samsung"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5154, _:genid-371333f489424440b12a13b9d98ced822608-genid5156, _:genid-371333f489424440b12a13b9d98ced822608-genid5158, _:genid-371333f489424440b12a13b9d98ced822608-genid5160; , , ; , , ; "GCST90570660"; "A population-based prospective cohort of 61,480 men aged 40–74 living in urban Shanghai, recruited from 2002 with detailed lifestyle, dietary and medical data and blood, urine and DNA samples, and followed by in-person surveys every 3–4 years and linkage with cancer and vital statistics registries, to study lifestyle, environmental and genetic contributions to cancer and other non-communicable diseases."; 61480; "SMHS", "Shanghai Mens Health Study"; ; rdfs:label "Shanghai Men's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5154 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5156 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5158 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5160 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5154; "occupational history"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25733578+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Shanghai Men's Health Study (SMHS) is a population-based cohort study of 61,480 men aged 40-74 years, launched in 2002 in urban Shanghai to investigate the contribution of lifestyle/environmental factors and genetic susceptibility to cancer and other non-communicable diseases (NCDs)." . _:14952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5156; "lifestyle/environmental factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25733578+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Shanghai Men's Health Study (SMHS) is a population-based cohort study of 61,480 men aged 40-74 years, launched in 2002 in urban Shanghai to investigate the contribution of lifestyle/environmental factors and genetic susceptibility to cancer and other non-communicable diseases (NCDs)." . _:14962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5158; "dietary habits"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25733578+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Shanghai Men's Health Study (SMHS) is a population-based cohort study of 61,480 men aged 40-74 years, launched in 2002 in urban Shanghai to investigate the contribution of lifestyle/environmental factors and genetic susceptibility to cancer and other non-communicable diseases (NCDs)." . _:14972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5160; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25733578+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Shanghai Men's Health Study (SMHS) is a population-based cohort study of 61,480 men aged 40-74 years, launched in 2002 in urban Shanghai to investigate the contribution of lifestyle/environmental factors and genetic susceptibility to cancer and other non-communicable diseases (NCDs)." . _:14982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "The Shanghai Men’s Health Study (SMHS) is an ongoing population-based cohort study of 61,480 Chinese men who were aged between 40 and 74 years, were free of cancer at enrollment, and lived in urban Shanghai, China" . _:14992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90570660"; "Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids."; "PMID:40537477", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "The Shanghai Men’s Health Study (SMHS) is an ongoing population-based cohort study of 61,480 Chinese men who were aged between 40 and 74 years, were free of cancer at enrollment, and lived in urban Shanghai, China; 45,766 (74.4%) provided a blood samples." . _:149a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of 61,480 men aged 40–74 living in urban Shanghai, recruited from 2002 with detailed lifestyle, dietary and medical data and blood, urine and DNA samples, and followed by in-person surveys every 3–4 years and linkage with cancer and vital statistics registries, to study lifestyle, environmental and genetic contributions to cancer and other non-communicable diseases."; "PMID:25733578"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:149b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 61480; "men aged 40-74 enrolled 2002-2006"; "https://europepmc.org/api/getPdf?pmcid=PMC4521127"; rdfs:comment "By June 2006, 83033 potential eligible men had been approached for the study; 61480 were enrolled, an overall response rate of 74.0%." . _:149c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5167, _:genid-371333f489424440b12a13b9d98ced822608-genid5169, _:genid-371333f489424440b12a13b9d98ced822608-genid5171, _:genid-371333f489424440b12a13b9d98ced822608-genid5173; , ; , , ; "GCST90102456"; "A prospective cohort of men and women aged 50–76 living in the 13-county area of western Washington State covered by the SEER cancer registry, recruited by mailed questionnaire from October 2000 to December 2002, with about 77,700 valid baseline questionnaires, to study the use of vitamins and other dietary supplements, and lifestyle, in relation to cancer risk."; 77719; "VITAL", "VITamins And Lifestyle Cohort Study", "VITamins And Lifestyle cohort", "Vitamins and Lifestyle Study"; ; rdfs:label "VITamins And Lifestyle Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5167 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5169 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5171 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5173 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:149d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5167; "vitamin and mineral supplement use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; rdfs:comment "Data were collected at baseline using a 24-page, self-administered, sex-specific, optically scanned questionnaire that covered three content areas: diet, supplement use, and health history and risk factors." . _:149e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5169; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; rdfs:comment "Data were collected at baseline using a 24-page, self-administered, sex-specific, optically scanned questionnaire that covered three content areas: diet, supplement use, and health history and risk factors." . _:149f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5171; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; rdfs:comment "Data were collected at baseline using a 24-page, self-administered, sex-specific, optically scanned questionnaire that covered three content areas: diet, supplement use, and health history and risk factors." . _:14a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5173; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; rdfs:comment "In brief, the participants in the VITAL study cohort were recruited from men and women aged above 50 years and living in the 13-county area in Western Washington State covered by the Surveillance, Epidemiology, and End Results (SEER) program cancer registry." . _:14a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; rdfs:comment "In brief, the participants in the VITAL study cohort were recruited from men and women aged above 50 years and living in the 13-county area in Western Washington State covered by the Surveillance, Epidemiology, and End Results (SEER) program cancer registry." . _:14a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102456"; "Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival."; "PMID:34996992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8741984/fullTextXML"; rdfs:comment "the VITamins And Lifestyle Study (VITAL)50" . _:14a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of men and women aged 50–76 living in the 13-county area of western Washington State covered by the SEER cancer registry, recruited by mailed questionnaire from October 2000 to December 2002, with about 77,700 valid baseline questionnaires, to study the use of vitamins and other dietary supplements, and lifestyle, in relation to cancer risk."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 77719; "baseline questionnaires passing quality control, 2000-2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705892/fullTextXML"; rdfs:comment "Of these, 77 719 questionnaires passed quality control checks in the VITAL study." . _:14a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VITAL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5180; , ; "GCST90091013"; "A clinic-based cohort of patients of European origin attending the only public sleep clinic in Western Australia, in Perth, most of them referred for sleep-disordered breathing, with questionnaires, biochemistry, DNA and in-laboratory polysomnography collected for over 3,000 patients by 2010 towards a target of 4,000 and linkage to Western Australian health data, to study the epidemiology and genetics of obstructive sleep apnoea and its comorbidities."; "WASHS", "Western Australia Sleep Health Study"; ; rdfs:label "Western Australian Sleep Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5180 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5180; "obstructive sleep apnoea"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21318257+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study describes the development of such a cohort (The Western Australian Sleep Health Study) in OSA patients of Caucasian-European origin attending the only public sleep clinic in Western Australia (WA)." . _:14a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6467367/fullTextXML"; rdfs:comment "This clinic-based study examines patients presenting to the sole public sleep clinic in Western Australia, located in Perth." . _:14a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091013"; "Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program."; "PMID:34446064", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394596/fullTextXML"; rdfs:comment "The Western Australian Sleep Health Study (WASHS) is a clinic-based study focused on the epidemiology and genetics of SDB [34]." . _:14a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based cohort of patients of European origin attending the only public sleep clinic in Western Australia, in Perth, most of them referred for sleep-disordered breathing, with questionnaires, biochemistry, DNA and in-laboratory polysomnography collected for over 3,000 patients by 2010 towards a target of 4,000 and linkage to Western Australian health data, to study the epidemiology and genetics of obstructive sleep apnoea and its comorbidities."; "PMID:21318257", "PMID:30990817", "PMID:34446064"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WASHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5186, _:genid-371333f489424440b12a13b9d98ced822608-genid5188; ; , , , , , ; "GCST90104685"; "A European multimodal biomarker dataset of 1,221 people aged over 50 with normal cognition, mild cognitive impairment or Alzheimer-type dementia and known amyloid status, whose existing clinical data, samples and scans were retrospectively combined from 11 prospective European cohort studies (three multicenter and eight single-center studies) within the Innovative Medicines Initiative-funded European Medical Information Framework, with plasma, cerebrospinal fluid, DNA and MRI data for discovery of diagnostic and prognostic Alzheimer disease biomarkers."; 1221; "EMIF", "EMIF-AD", "EMIF-AD MBD", "EMIF-AD Multimodal Biomarker Discovery study", "European Medical Information Framework", "European Medical Information Framework Alzheimer's Disease Multimodal Biomarker Discovery", "European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery"; ; rdfs:label "European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5186 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5188 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5186; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29980228+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Inclusion criteria were having normal cognition (NC) or a diagnosis of mild cognitive impairment (MCI) or AD-type dementia at baseline, age above 50 years, known amyloid-beta (Aβ) status, availability of cognitive test results and at least two of the following materials: plasma, DNA, magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF)." . _:14ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5188; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29980228+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Inclusion criteria were having normal cognition (NC) or a diagnosis of mild cognitive impairment (MCI) or AD-type dementia at baseline, age above 50 years, known amyloid-beta (Aβ) status, availability of cognitive test results and at least two of the following materials: plasma, DNA, magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF)." . _:14ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6035398/fullTextXML"; rdfs:comment "The 11 selected cohorts included three multicenter studies—EDAR (n = 204) [14], PharmaCog (n = 147) [15] and DESCRIPA (n = 29) [16]—and eight single centers: Antwerp (n = 149) [17], Amsterdam (n = 172) [18], Barcelona Sant Pau (n = 45) [19], Barcelona IDIBAPS (n = 120) [20], Leuven (n = 180) [21], San Sebastian GAP (n = 40) [22], Gothenburg (n = 95) [23] and Lausanne (n = 40) [24]." . _:14ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6035398/fullTextXML"; rdfs:comment "The 11 selected cohorts included three multicenter studies—EDAR (n = 204) [14], PharmaCog (n = 147) [15] and DESCRIPA (n = 29) [16]—and eight single centers: Antwerp (n = 149) [17], Amsterdam (n = 172) [18], Barcelona Sant Pau (n = 45) [19], Barcelona IDIBAPS (n = 120) [20], Leuven (n = 180) [21], San Sebastian GAP (n = 40) [22], Gothenburg (n = 95) [23] and Lausanne (n = 40) [24]." . _:14af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104685"; "Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset."; "PMID:35386118", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35386118+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Specifically, we utilized genotype and phenotype data from n = 931 individuals collected under the auspices of the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study to perform a total of 19 separate GWAS analyses." . _:14b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European multimodal biomarker dataset of 1,221 people aged over 50 with normal cognition, mild cognitive impairment or Alzheimer-type dementia and known amyloid status, whose existing clinical data, samples and scans were retrospectively combined from 11 prospective European cohort studies (three multicenter and eight single-center studies) within the Innovative Medicines Initiative-funded European Medical Information Framework, with plasma, cerebrospinal fluid, DNA and MRI data for discovery of diagnostic and prognostic Alzheimer disease biomarkers."; "PMID:29980228"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1221; "people with normal cognition, MCI or AD-type dementia pooled from 11 cohorts"; "PMID:29980228"; rdfs:comment "In total, 1221 subjects were included in the study, with a mean age of 67.9 (SD 8.3) years." . _:14b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMIF"; . _:14b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMIF-AD"; . _:14b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMIF-AD MBD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5198, _:genid-371333f489424440b12a13b9d98ced822608-genid5200; ; , ; , , ; "GCST90271622", "PMID:18498660"; "A family study of the National Heart, Lung, and Blood Institute that recruited families, about half at high risk of coronary heart disease and half selected randomly, from existing study populations at four centres in Forsyth County (North Carolina), Framingham (Massachusetts), Minneapolis (Minnesota) and Salt Lake City (Utah), examining 5,710 participants in 1993–1995, to identify genetic and non-genetic determinants of coronary heart disease, atherosclerosis and their risk factors. Its follow-up, the Family Heart SCAN study, re-examined about a third of the participants with cardiac CT in 2002–2003 and added 622 African Americans from 211 families of hypertensive sibships previously examined by the Hypertension Genetic Epidemiology Network (HyperGEN)."; "The acronym FHS also denotes Framingham Heart Study (COHO:0000385); this term is NHLBI Family Heart Study."@en; 5710; "FAMHS", "FHS", "FamHS", "Family Heart Study", "National Heart, Lung, and Blood Institute Family Heart Study"; ; rdfs:label "NHLBI Family Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5198 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5200 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5198; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8651220+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The NHLBI Family Heart Study is a multicenter, population-based study of genetic and nongenetic determinants of coronary heart disease (CHD), atherosclerosis, and cardiovascular risk factors. In phase I, 2,000 randomly selected participants and 2,000 with family histories of CHD were identified among 14,592 middle-aged participants in epidemiologic studies." . _:14b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5200; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8651220+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The NHLBI Family Heart Study is a multicenter, population-based study of genetic and nongenetic determinants of coronary heart disease (CHD), atherosclerosis, and cardiovascular risk factors. In phase I, 2,000 randomly selected participants and 2,000 with family histories of CHD were identified among 14,592 middle-aged participants in epidemiologic studies." . _:14b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2409301/fullTextXML"; rdfs:comment "The National Heart, Lung and Blood Institute (NHLBI) Family Heart Study (FHS) recruited families from four existing study centers located in Forsyth County, NC; Framingham, MA; Minneapolis, MN; and Salt Lake City, UT." . _:14b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271622"; "Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease."; "PMID:37709864", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10918428/"; rdfs:comment "The multi-ethnic GOLD Consortium includes the following nine multi-ethnic cohorts with CT-measured steatosis (n = 23,521): Age, Gene/Environment Susceptibility-Reykjavik Study (AGES)75, COPDGene76, Family Heart Study (FamHS)77, Framingham Heart Study (FHS)78," . _:14b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18498660"; "Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study."; "PMID:18498660", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2409301/fullTextXML"; rdfs:comment "The National Heart, Lung and Blood Institute (NHLBI) Family Heart Study (FHS) recruited families from four existing study centers located in Forsyth County, NC; Framingham, MA; Minneapolis, MN; and Salt Lake City, UT." . _:14ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of the National Heart, Lung, and Blood Institute that recruited families, about half at high risk of coronary heart disease and half selected randomly, from existing study populations at four centres in Forsyth County (North Carolina), Framingham (Massachusetts), Minneapolis (Minnesota) and Salt Lake City (Utah), examining 5,710 participants in 1993–1995, to identify genetic and non-genetic determinants of coronary heart disease, atherosclerosis and their risk factors. Its follow-up, the Family Heart SCAN study, re-examined about a third of the participants with cardiac CT in 2002–2003 and added 622 African Americans from 211 families of hypertensive sibships previously examined by the Hypertension Genetic Epidemiology Network (HyperGEN)."; "PMID:8651220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2409301/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4417236/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8224703/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5710; "family members examined at baseline (1993-1995)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8224703/fullTextXML"; rdfs:comment "In short, a total of 5710 subjects participated in baseline clinical examinations from 1993 to 1995." . _:14bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMHS"; . _:14bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHS"; . _:14be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FamHS"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , ; "GCST90557999"; "A multinational, multi-ancestry observational cohort of more than 25,000 pregnant women enrolled in 2000-2006 at 15 field centres in Asia, Australia, the Caribbean, Europe, North America and the Middle East, who had a standardised 75 g oral glucose tolerance test at 24-32 weeks of gestation, to study the association of maternal glycaemia with adverse pregnancy and newborn outcomes; mothers were later genotyped and their children followed up."; 25505; "HAPO", "HAPO Study", "Hyperglycemia and Adverse Pregnancy Outcome", "Hyperglycemia and Adverse Pregnancy Outcomes study"; ; rdfs:label "Hyperglycemia and Adverse Pregnancy Outcome Study"@en . _:14bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9169452/fullTextXML"; rdfs:comment "The Hyperglycemia and Adverse Pregnancy Outcome (HAPO) cohort recruited 28 562 pregnant women between 1 July 2000 and 30 April 2006 from 15 clinical study centers in 10 countries (United States, Canada, Barbados, United Kingdom, the Netherlands, Thailand, Israel, Australia, Hong Kong and Singapore)" . _:14c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90557999"; "Metabolomic and genetic architecture of gestational diabetes subtypes."; "PMID:38367033", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38367033+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This was a cross-sectional study of participants in the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study who underwent an OGTT at approximately 28 weeks' gestation." . _:14c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational, multi-ancestry observational cohort of more than 25,000 pregnant women enrolled in 2000-2006 at 15 field centres in Asia, Australia, the Caribbean, Europe, North America and the Middle East, who had a standardised 75 g oral glucose tolerance test at 24-32 weeks of gestation, to study the association of maternal glycaemia with adverse pregnancy and newborn outcomes; mothers were later genotyped and their children followed up."; "PMID:37110162", "PMID:39849370"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25505; "pregnant women who completed the 75 g OGTT, 2000-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12590762/fullTextXML"; rdfs:comment "Of the eligible women across 15 centers in nine countries, 28,562 agreed to participate, 25,505 of whom completed the OGTT, leaving 23,316 available for analysis following further filtering [ 19 ]." . _:14c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAPO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5215, _:genid-371333f489424440b12a13b9d98ced822608-genid5217; , ; ; "GCST90104876"; "A biorepository cohort of 9,334 adults recruited sequentially at the cardiac catheterisation laboratories of Duke University, Durham, North Carolina, while undergoing evaluation for ischaemic heart disease, with fasting blood samples, genotype data and clinical data from medical records, followed for cardiovascular events and survival."; 9334; "CATHGEN", "CATHGEN biorepository", "CATHeterization GENetics", "DUKE_2", "Duke", "Duke CATHGEN Study", "Duke Catheterization Genetics", "Duke Cathgen Study", "Duke Clinic"; ; rdfs:label "Catheterization Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5215 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5217 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5215; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4634848/fullTextXML"; rdfs:comment "Individuals were selected from the CATHGEN biorepository of patients referred for evaluation of ischemic heart disease recruited sequentially through the cardiac catheterization laboratories at Duke University (Durham, NC) [30]." . _:14c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5217; "ischemic heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4634848/fullTextXML"; rdfs:comment "Individuals were selected from the CATHGEN biorepository of patients referred for evaluation of ischemic heart disease recruited sequentially through the cardiac catheterization laboratories at Duke University (Durham, NC) [30]." . _:14c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4634848/fullTextXML"; rdfs:comment "Individuals were selected from the CATHGEN biorepository of patients referred for evaluation of ischemic heart disease recruited sequentially through the cardiac catheterization laboratories at Duke University (Durham, NC) [30]." . _:14c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104876"; "Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis."; "PMID:26540294", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26540294%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Using genomewide association in the CATHGEN cohort (N = 1490), we observed associations of several metabolites with genetic loci." . _:14c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository cohort of 9,334 adults recruited sequentially at the cardiac catheterisation laboratories of Duke University, Durham, North Carolina, while undergoing evaluation for ischaemic heart disease, with fasting blood samples, genotype data and clinical data from medical records, followed for cardiovascular events and survival."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4634848/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9365120/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9334; "patients in the CATHGEN biorepository"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9365120/fullTextXML"; rdfs:comment "The Institutional Review Board for an academic medical center in the southeastern U.S. approved the primary CATHGEN cohort biorepository (N = 9334) [19], the GWAS substudy of the first 2203 participants >18 years of age enrolled in CATHGEN [20], [21], and the present sex-stratified GWAS screen (N = 684)." . _:14ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CATHGEN"; . _:14cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DUKE_2"; . _:14cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duke"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5226; , ; ; "GCST90301397", "PGS000734"; "A Spanish colorectal cancer study combining two case-control studies: incident colorectal cancer cases and hospital controls recruited at the University Hospital of Bellvitge, L'Hospitalet de Llobregat (Barcelona), in 1996–1998, and cases and population controls recruited at Bellvitge and the Hospital of León in 2007–2015, genotyped to study the genetics and genomics of colorectal cancer."; "The name Colorectal Cancer Genetics Study also denotes Colorectal Cancer Genetic Susceptibility Study (COHO:0001603); this term is Colorectal Cancer Genetics & Genomics."@en; 1801; "CRC Genetics Study", "CRCGEN", "Colorectal Cancer Genetics & Genomics, Spanish study", "Colorectal Cancer Genetics Study", "Spain", "The Spanish study (University Hospital of Bellvitge, Hospital of Leon)"; , ; rdfs:label "Colorectal Cancer Genetics & Genomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5226 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5226; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8574048/fullTextXML"; rdfs:comment "The second study was conducted in parallel in the University Hospital of Bellvitge and in the Hospital of León, León, during 2007–2015 and recruited a total of 633 incident CRC cases (313 Bellvitge and 320 León) and 571 population controls (free of CRC, 164 Bellvitge and 407 León)." . _:14ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8574048/fullTextXML"; rdfs:comment "CRCGEN combines data of two Spanish case-control studies." . _:14cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301397"; "Germline genetic regulation of the colorectal tumor immune microenvironment."; "PMID:38664626", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "The second replication data set (Colorectal Cancer Genetics Study; CRCGEN) included FFPE and frozen samples from 162 stage II microsatellite stable colon cancer patients with immunoSEQ data [54]." . _:14d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:14d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Spanish colorectal cancer study combining two case-control studies: incident colorectal cancer cases and hospital controls recruited at the University Hospital of Bellvitge, L'Hospitalet de Llobregat (Barcelona), in 1996–1998, and cases and population controls recruited at Bellvitge and the Hospital of León in 2007–2015, genotyped to study the genetics and genomics of colorectal cancer."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8574048/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1801; "CRCGEN cases and controls with genetic data (both component case-control studies), 1996-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8574048/fullTextXML"; rdfs:comment "This study population consisted of 3619 participants from 2 observational studies for whom genetic data were available: Colorectal Cancer Genetics & Genomics (CRCGEN; n = 1801) and Colorectal Cancer Screening (COLSCREEN; n = 1818)." . _:14d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRCGEN"; . _:14d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Spain"; . a owl:NamedIndividual, ; , ; ; "GCST90277987"; "A population-based cohort of about 1,000 people from Carlantino, a small isolated village in Apulia (Foggia province), southern Italy, who underwent clinical and instrumental evaluations between 1998 and 2005; one of the isolated populations of the Italian Network of Genetic Isolates, which studies the genetic basis of complex diseases and phenotypes."; 1000; "CAR", "INGI-CAR", "INGI-CARL", "INGI-CARLANTINO", "INGI-Carlantino", "Italian Network on Genetic Isolates-Carlantino"; ; rdfs:label "Italian Network of Genetic Isolates - Carlantino"@en . _:14d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4997959/fullTextXML"; rdfs:comment "In particular, our study used 370 individuals from INGI-CARL, a population coming from Carlantino, a small village located in Puglia (Southern Italy), and 843 defined as INGI-FVG, making reference to 6 villages situated in the Friuli Venezia Region in North-Eastern Italy for a total of 1207 samples." . _:14d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90277987"; "Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?"; "PMID:37174278", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML"; rdfs:comment "The discovery phase was carried out on a total of 1482 participants divided as follows: 1109 from the Val Borbera (VBI) cohort in Northern Italy, and 373 from Carlantino (CAR) in Southern Italy." . _:14d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 1,000 people from Carlantino, a small isolated village in Apulia (Foggia province), southern Italy, who underwent clinical and instrumental evaluations between 1998 and 2005; one of the isolated populations of the Italian Network of Genetic Isolates, which studies the genetic basis of complex diseases and phenotypes."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4997959/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394865/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436946/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "people from Carlantino (approximate), 1998-2005"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436946/supplementaryFiles" . _:14d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAR"; . _:14da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-CAR"; . _:14db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-CARL"; . _:14dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-CARLANTINO"; . _:14dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-Carlantino"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5244, _:genid-371333f489424440b12a13b9d98ced822608-genid5246, _:genid-371333f489424440b12a13b9d98ced822608-genid5248, _:genid-371333f489424440b12a13b9d98ced822608-genid5250; , , , , , , , , ; ; ; "GCST90000059"; "A case-cohort study nested in the European Prospective Investigation into Cancer and Nutrition, comprising 12,403 verified incident cases of type 2 diabetes occurring in 1991-2007 among 340,234 eligible EPIC participants in eight European countries and a centre-stratified random subcohort of 16,154, assembled by the InterAct consortium to study how genes and lifestyle, especially diet and physical activity, interact in the risk of type 2 diabetes."; 12403; "EPIC-InterAct", "EPIC-InterAct case-cohort study", "European Prospective Investigation into Cancer - InterAct Study", "InterAct", "InterAct Project"; ; rdfs:label "EPIC-InterAct Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5244 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5246 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5248 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5250 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5244; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21717116+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 12,403 verified incident cases of type 2 diabetes occurred during 3.99 million person-years of follow-up of 340,234 EPIC participants eligible for InterAct. We defined a centre-stratified subcohort of 16,154 individuals for comparative analyses." . _:14df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5246; "lifestyle and behavioural factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21717116+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This case-cohort study aims to investigate how genetic and potentially modifiable lifestyle and behavioural factors, particularly diet and physical activity, interact in their influence on the risk of developing type 2 diabetes." . _:14e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5248; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21717116+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This case-cohort study aims to investigate how genetic and potentially modifiable lifestyle and behavioural factors, particularly diet and physical activity, interact in their influence on the risk of developing type 2 diabetes." . _:14e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5250; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21717116+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This case-cohort study aims to investigate how genetic and potentially modifiable lifestyle and behavioural factors, particularly diet and physical activity, interact in their influence on the risk of developing type 2 diabetes." . _:14e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7341350/fullTextXML"; rdfs:comment "cases of incident type 2 diabetes occurring in eight of the 10 EPIC countries (Denmark, France, Germany, Italy, Netherlands, Spain, Sweden, and UK) between 1991 and 2007 were ascertained and verified by the InterAct consortium across 26 study centres" . _:14e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7341350/fullTextXML"; rdfs:comment "The EPIC-InterAct study is a prospective case-cohort study, nested within the European EPIC study." . _:14e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000059"; "Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals."; "PMID:33230300", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610439/supplementaryFiles"; rdfs:comment "Funding for the InterAct project was provided by the EU FP6 programme" . _:14e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-cohort study nested in the European Prospective Investigation into Cancer and Nutrition, comprising 12,403 verified incident cases of type 2 diabetes occurring in 1991-2007 among 340,234 eligible EPIC participants in eight European countries and a centre-stratified random subcohort of 16,154, assembled by the InterAct consortium to study how genes and lifestyle, especially diet and physical activity, interact in the risk of type 2 diabetes."; "PMID:21717116", "PMID:32641421"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12403; "case-cohort: verified incident type 2 diabetes cases and a random subcohort (1991-2007)"; "PMID:21717116"; rdfs:comment "A total of 12,403 verified incident cases of type 2 diabetes occurred during 3.99 million person-years of follow-up of 340,234 EPIC participants eligible for InterAct. We defined a centre-stratified subcohort of 16,154 individuals for comparative analyses." . _:14e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-InterAct"; . _:14e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "InterAct"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5259; , ; "GCST90002227"; "A sample of about 900 adults of European ancestry aged 18 to 99 from Leipzig, Germany, with a mean BMI of about 35 to 38 kg/m2, collected with support from the Integrated Research and Treatment Centre (IFB) AdiposityDiseases of the University of Leipzig and the German Obesity Biomaterial Bank, and genotyped on the Illumina ExomeChip and Metabochip for consortium studies of obesity-related and glycaemic traits."; 1005; "LEIPZIG-adults", "Leipzig Adults Study", "Leipzig-Adults", "Leipzig-adults", "Leipzig_Adults"; ; rdfs:label "Leipzig Adults"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5259 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5259; "obesity" . _:14ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002227"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "LEIPZIG-adults" . _:14eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of about 900 adults of European ancestry aged 18 to 99 from Leipzig, Germany, with a mean BMI of about 35 to 38 kg/m2, collected with support from the Integrated Research and Treatment Centre (IFB) AdiposityDiseases of the University of Leipzig and the German Obesity Biomaterial Bank, and genotyped on the Illumina ExomeChip and Metabochip for consortium studies of obesity-related and glycaemic traits."; "https://doi.org/10.2337/figshare.12933737", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0011-x/MediaObjects/41588_2017_11_MOESM3_ESM.xlsx", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399760/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1005; "Metabochip-genotyped adults passing QC in a height GWAS supplement (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3097/MediaObjects/41588_2014_BFng3097_MOESM4_ESM.pdf"; rdfs:comment "Leipzig Adults Leipzig adults Population- based 1005 ≥95% 1) ethnic outliers 2) gender discordance 1,005 measured" . _:14ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LEIPZIG-adults"; . _:14ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leipzig-Adults"; . _:14ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leipzig-adults"; . _:14f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leipzig_Adults"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5268, _:genid-371333f489424440b12a13b9d98ced822608-genid5270, _:genid-371333f489424440b12a13b9d98ced822608-genid5272, _:genid-371333f489424440b12a13b9d98ced822608-genid5274; , ; "GCST90134637"; "A population-based cohort of 9,651 adults examined in 1991 in eight areas representing the range of environmental and socio-demographic conditions in Switzerland, reassessed in 2001-2003 and 2010 with spirometry, Holter ECG and a DNA and blood biobank, set up to study the long-term effects of air pollution on lung function and respiratory and cardiovascular health."; 9651; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SAPALDIA"; "SAPALDIA", "Swiss Cohort Study on Air Pollution And Lung And Heart Disease In Adults", "Swiss Cohort Study on Air Pollution and Lung Diseases in Adults"; , ; rdfs:label "Swiss Study on Air Pollution and Lung Diseases in Adults"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5268 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5270 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5272 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5274 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:14f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5268; "long-term exposure to air pollution", "nitrogen dioxide (NO2), sulphur dioxide (SO2), ozone (O3) and particulates in ambient air"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16167509+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Swiss Cohort Study on Air Pollution and Lung Diseases in Adults (SAPALDIA) was designed to investigate the health effects from long-term exposure to air pollution." . _:14f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5270; "bronchial asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9151378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the SAPALDIA cross-sectional study carried out in 1991 was to determine the prevalence of bronchial asthma, chronic bronchitis and allergic conditions in the adult population of Switzerland and to identify and to determine the respective importance of potentially influencing factors." . _:14f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5272; "allergic conditions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9151378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the SAPALDIA cross-sectional study carried out in 1991 was to determine the prevalence of bronchial asthma, chronic bronchitis and allergic conditions in the adult population of Switzerland and to identify and to determine the respective importance of potentially influencing factors." . _:14f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5274; "chronic bronchitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9151378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the SAPALDIA cross-sectional study carried out in 1991 was to determine the prevalence of bronchial asthma, chronic bronchitis and allergic conditions in the adult population of Switzerland and to identify and to determine the respective importance of potentially influencing factors." . _:14f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9576575/fullTextXML"; rdfs:comment "Swiss Cohort Study on Air Pollution And Lung And Heart Disease In Adults (SAPALDIA) is a population-based multi-center study in eight geographic areas representing the range of environmental, meteorological and socio-demographic conditions in Switzerland (Ackermann-Liebrich et al., 1997; Martin et al., 1997)." . _:14f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134637"; "Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency."; "PMID:36267918", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9576575/fullTextXML"; rdfs:comment "Swiss Cohort Study on Air Pollution And Lung And Heart Disease In Adults (SAPALDIA) is a population-based multi-center study in eight geographic areas representing the range of environmental, meteorological and socio-demographic conditions in Switzerland (Ackermann-Liebrich et al., 1997; Martin et al., 1997)." . _:14f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 9,651 adults examined in 1991 in eight areas representing the range of environmental and socio-demographic conditions in Switzerland, reassessed in 2001-2003 and 2010 with spirometry, Holter ECG and a DNA and blood biobank, set up to study the long-term effects of air pollution on lung function and respiratory and cardiovascular health."; "PMID:16167509", "PMID:36267918", "PMID:9151378"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9651; "adults examined at baseline in 1991 (SAPALDIA 1)"; "PMID:9151378"; rdfs:comment "The pattern of participation and the 9651 participants of the study, representing 59.3% of the sample, are described." . _:14f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAPALDIA"; . a owl:NamedIndividual, ; , , ; "GCST90319502"; "A prospective cohort of 1,629 older adults aged 65–84 years living in Bunkyo-ku, an urban area of Tokyo, sampled from the residential registries of 13 communities chosen by probability proportionate to size, examined at the Sportology Center of Juntendo University in 2015–2018 and followed for over 10 years to study muscle function, metabolic health and ageing."; 1629; "Bunkyo"; ; rdfs:label "Bunkyo Health Study"@en . _:14fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11106293/fullTextXML"; rdfs:comment "Bunkyo Health Study is a prospective cohort study of over 10 years21, which recruited older subjects aged 65–84 years living in Bunkyo-Ku, an urban area in Tokyo, Japan." . _:14fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319502"; "A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals."; "PMID:38769351", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11106293/fullTextXML"; rdfs:comment "Set 3 consisted of 1623 participants from Bunkyo Health Study22." . _:14fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 1,629 older adults aged 65–84 years living in Bunkyo-ku, an urban area of Tokyo, sampled from the residential registries of 13 communities chosen by probability proportionate to size, examined at the Sportology Center of Juntendo University in 2015–2018 and followed for over 10 years to study muscle function, metabolic health and ageing."; "PMID:38769351", "PMID:39346030"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:14fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1629; "older adults enrolled in the registry (2015-2018)"; "PMID:39346030"; rdfs:comment "The Bunkyo Health Study registry initially enrolled 1629 individuals." . _:14fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bunkyo"; . a owl:NamedIndividual, ; , , ; "GCST90319502"; "An ongoing community cohort run by the Center for Community-based Healthcare Research and Education (CoHRE) of Shimane University, built on health examinations of community-dwelling people, largely older adults in rural towns, in Shimane Prefecture, Japan, in collaboration with local municipalities, to identify factors in healthy ageing and chronic disease."; "CoHRE", "Shimane COHRE study", "Shimane Community-Based Healthcare Research and Education study", "Shimane-CoHRE"; ; rdfs:label "Shimane CoHRE Study"@en . _:14ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11106293/fullTextXML"; rdfs:comment "Shimane CoHRE Study is an ongoing health examination for the community-dwelling people in Shimane prefecture, Japan." . _:15002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319502"; "A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals."; "PMID:38769351", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11106293/fullTextXML"; rdfs:comment "Both were from Shimane CoHRE Study20,21, but different arrays were used for genotyping." . _:15012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing community cohort run by the Center for Community-based Healthcare Research and Education (CoHRE) of Shimane University, built on health examinations of community-dwelling people, largely older adults in rural towns, in Shimane Prefecture, Japan, in collaboration with local municipalities, to identify factors in healthy ageing and chronic disease."; "PMID:35010674", "PMID:36079021", "PMID:38769351"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoHRE"; . _:15032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shimane-CoHRE"; . a owl:NamedIndividual, ; , , ; "GCST90100517"; "A population-based study of 4,303 non-institutionalized Chinese men aged 17–88 who attended routine physical examinations at the Medical Centre of Fangchenggang First People’s Hospital in Guangxi, China, from September to December 2009, surveyed and sampled to investigate environmental and genetic factors, and their interaction, in age-related chronic diseases."; 4303; "FAMHES", "Guangxi Fangchenggang Area Male Health and Examination Survey"; ; rdfs:label "Fangchenggang Area Male Health and Examination Survey"@en . _:15042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3380865/fullTextXML"; rdfs:comment "Briefly, the FAMHES was a population-based study conducted among non-institutionalized Chinese men aging from 17 to 88 years old in Guangxi, China." . _:15052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90100517"; "Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans."; "PMID:35501403", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9061855/fullTextXML"; rdfs:comment "To conduct comprehensive GWASs of 22 serum/plasma metal levels in the Chinese population, we used the serum metal levels data obtained from FAMHES in Guangxi Fangchenggang and plasma metal levels data obtained from MEWHC." . _:15062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of 4,303 non-institutionalized Chinese men aged 17–88 who attended routine physical examinations at the Medical Centre of Fangchenggang First People’s Hospital in Guangxi, China, from September to December 2009, surveyed and sampled to investigate environmental and genetic factors, and their interaction, in age-related chronic diseases."; "PMID:22737230", "PMID:35501403"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4303; "men surveyed at routine physical examination, Sept-Dec 2009"; "PMID:22737230"; rdfs:comment "A comprehensive demographic and health survey was conducted among a consecutive series of 4303 men participating in the routine physical examination at the Medical Centre in Fangchenggang First People’s Hospital from September 2009 to December 2009." . _:15082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMHES"; . a owl:NamedIndividual, ; , ; ; "GCST90105058"; "A population-based cohort of about 1,700 people from six isolated villages in the Friuli Venezia Giulia region of north-eastern Italy, examined between 2008 and 2010 in the Genetic Park of Friuli Venezia Giulia project; one of the isolated populations of the Italian Network of Genetic Isolates, which studies the genetic basis of complex diseases and phenotypes."; 1700; "FVG", "Friuli-Venezia Giulia Genetic Park", "Genetic Park of Friuli Venezia Giulia", "INGI-FVG", "INGI-Friuli Venezia Giulia", "Italian Network on Genetic Isolates - Friuli Venezia Giulia", "Italian Network on Genetic Isolates-Friuli-Venezia Giulia"; ; rdfs:label "Italian Network of Genetic Isolates - Friuli Venezia Giulia"@en . _:15092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4997959/fullTextXML"; rdfs:comment "In particular, our study used 370 individuals from INGI-CARL, a population coming from Carlantino, a small village located in Puglia (Southern Italy), and 843 defined as INGI-FVG, making reference to 6 villages situated in the Friuli Venezia Region in North-Eastern Italy for a total of 1207 samples." . _:150a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90105058"; "Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss."; "PMID:35580588", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9247887/fullTextXML"; rdfs:comment "Italian Network of Genetic Isolates - Friuli Venezia Giulia (INGI-FVG; n = 339)" . _:150b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 1,700 people from six isolated villages in the Friuli Venezia Giulia region of north-eastern Italy, examined between 2008 and 2010 in the Genetic Park of Friuli Venezia Giulia project; one of the isolated populations of the Italian Network of Genetic Isolates, which studies the genetic basis of complex diseases and phenotypes."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10178705/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7080768/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436946/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:150c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1700; "subjects from the Genetic Park of Friuli Venezia Giulia project (approximate)"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; rdfs:comment "The INGI-FVG cohort consisted of about 1700 subjects drawn from the project “Genetic Park of Friuli Venezia Giulia”." . _:150d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FVG"; . _:150e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-FVG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5302; , ; "GCST90566795"; "A multicentre prospective observational study of knee osteoarthritis, run as a public-private partnership between the NIH and industry, that recruited 4,796 men and women aged 45-79 at four US clinical sites in 2004-2006 into progression (symptomatic knee osteoarthritis), incidence (increased risk) and non-exposed reference subcohorts, and followed them with clinical examinations, knee radiographs at baseline and 12, 24, 36, 48, 72 and 96 months, and biospecimen collection, to identify risk factors and biomarkers for the onset and progression of knee osteoarthritis."; 4796; "OAI"; ; rdfs:label "Osteoarthritis Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5302 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:150f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5302; "knee osteoarthritis"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "The Osteoarthritis Initiative (OAI) is a prospective longitudinal study designed to identify risk factors for the incidence and progression of symptomatic tibiofemoral knee osteoarthritis." . _:15102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "Participants were recruited at four clinical sites: 1) Brown University (Providence, RI); 2) The Ohio State University (Columbus, OH); 3) University of Maryland and The Johns Hopkins University (Baltimore, MD); and 4) University of Pittsburgh (Pittsburgh, PA)." . _:15112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90566795"; "Translational genomics of osteoarthritis in 1,962,069 individuals."; "PMID:40205036", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf"; rdfs:comment "The Osteoarthritis Initiative (OAI) is a prospective longitudinal study designed to identify risk factors for the incidence and progression of symptomatic tibiofemoral knee osteoarthritis." . _:15122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective observational study of knee osteoarthritis, run as a public-private partnership between the NIH and industry, that recruited 4,796 men and women aged 45-79 at four US clinical sites in 2004-2006 into progression (symptomatic knee osteoarthritis), incidence (increased risk) and non-exposed reference subcohorts, and followed them with clinical examinations, knee radiographs at baseline and 12, 24, 36, 48, 72 and 96 months, and biospecimen collection, to identify risk factors and biomarkers for the onset and progression of knee osteoarthritis."; "PMID:23372535", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-025-08771-z/MediaObjects/41586_2025_8771_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8342605/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8487312/fullTextXML", "https://www.niams.nih.gov/grants-funding/funded-research/osteoarthritis-initiative"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4796; "men and women aged 45-79 recruited 2004-2006"; "https://www.niams.nih.gov/grants-funding/funded-research/osteoarthritis-initiative"; rdfs:comment "The OAI cohort of 4,796 participants is 58% female and ranged in age from 45-79 at time of recruitment." . _:15142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OAI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5309; , ; , ; "GCST90651081"; "A cancer clinical trials network, formerly the Southwest Oncology Group, that is one of the network groups of the US National Cancer Institute's National Clinical Trials Network and runs multicentre cancer treatment and cancer prevention trials in adults at its member sites; its trial cohorts include the CALGB/SWOG 80405 trial in metastatic colorectal cancer, the Selenium and Vitamin E Cancer Prevention Trial and the Prostate Cancer Prevention Trial."; "SWOG", "Southwest Oncology Group"; ; rdfs:label "SWOG Cancer Research Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5309 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5309; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4983010/fullTextXML"; rdfs:comment "SELECT was coordinated by SWOG, a national consortium of institutions and investigators that conducts multidisciplinary clinical trials to improve the practice of medicine in preventing, detecting, and treating cancer, and to enhance the quality of life for cancer survivors." . _:15162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4983010/fullTextXML"; rdfs:comment "SELECT was coordinated by SWOG, a national consortium of institutions and investigators that conducts multidisciplinary clinical trials to improve the practice of medicine in preventing, detecting, and treating cancer, and to enhance the quality of life for cancer survivors." . _:15172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3139891/fullTextXML"; rdfs:comment "The PCPT was a Phase III double-blinded, placebo-controlled trial, administered through the Southwest Oncology Group, that tested whether finasteride could reduce the period prevalence of prostate cancer during a 7-year intervention." . _:15182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7064039/fullTextXML"; rdfs:comment "The US National Cancer Institute (NCI) has developed research networks focused on improving survival and health outcomes for cancer patients through the conduct of large‐scale clinical trials, including the National Clinical Trials Network (NCTN), the NCI Cancer Centers Program, and the NCI Community Oncology Research Program (NCORP). The NCTN provides funding and clinical trial infrastructure support to over 3000 sites via membership in NCTN network groups, including the SWOG Cancer Research Network (SWOG; formerly the Southwest Oncology Group)." . _:15192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90651081"; "Common variation in a long non-coding RNA gene modulates variation of circulating TGF-β2 levels in metastatic colorectal cancer patients (Alliance)."; "PMID:38745123", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11092225/fullTextXML"; rdfs:comment "To this end, we used clinical, genotyping, and pre-treatment candidate protein marker data obtained from patients with mCRC randomized to the Cancer and Leukemia Group B (CALGB, now part of the Alliance for Clinical Trials in Oncology (Alliance)) and the Southwest Oncology Group, CALGB/SWOG 80405." . _:151a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cancer clinical trials network, formerly the Southwest Oncology Group, that is one of the network groups of the US National Cancer Institute's National Clinical Trials Network and runs multicentre cancer treatment and cancer prevention trials in adults at its member sites; its trial cohorts include the CALGB/SWOG 80405 trial in metastatic colorectal cancer, the Selenium and Vitamin E Cancer Prevention Trial and the Prostate Cancer Prevention Trial."; "PMID:25028457", "PMID:27519183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11092225/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7064039/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:151b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWOG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5317, _:genid-371333f489424440b12a13b9d98ced822608-genid5319, _:genid-371333f489424440b12a13b9d98ced822608-genid5321, _:genid-371333f489424440b12a13b9d98ced822608-genid5323; , ; ; "GCST90504004"; "A population-based case-control study of colorectal cancer in the United Kingdom that recruited histologically confirmed incident cases aged 45–80, diagnosed in 1997–2000 at hospitals in Dundee, Leeds and York and in 2000–2013 in Leeds only, with controls matched for age and sex from the cases' general practice lists (supplemented after 2000 by friends or spouses of Leeds cases), all interviewed about diet, smoking and other lifestyle factors."; 1910; 1275; "LCCS", "UK-CCSG", "UK-Colorectal Cancer Study Group", "UK-Leeds Colorectal Cancer Study Group"; ; rdfs:label "Leeds Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5321 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5323 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:151c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5317; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12584178+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A study of 500 incident colorectal cancer cases and population controls, matched for age, sex and general practitioner, was conducted in the UK to investigate this hypothesis." . _:151d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5319; "meat intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12584178+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "carcinogenic heterocyclic amines (HA), which are produced by meat cooked at high temperatures and are found in cigarette smoke. A study of 500 incident colorectal cancer cases and population controls, matched for age, sex and general practitioner, was conducted in the UK to investigate this hypothesis." . _:151e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5321; "cigarette smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12584178+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "carcinogenic heterocyclic amines (HA), which are produced by meat cooked at high temperatures and are found in cigarette smoke. A study of 500 incident colorectal cancer cases and population controls, matched for age, sex and general practitioner, was conducted in the UK to investigate this hypothesis." . _:151f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5323; "heterocyclic amines from meat cooked at high temperatures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12584178+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "carcinogenic heterocyclic amines (HA), which are produced by meat cooked at high temperatures and are found in cigarette smoke. A study of 500 incident colorectal cancer cases and population controls, matched for age, sex and general practitioner, was conducted in the UK to investigate this hypothesis." . _:15202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12584178+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A study of 500 incident colorectal cancer cases and population controls, matched for age, sex and general practitioner, was conducted in the UK to investigate this hypothesis." . _:15212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "LCCS: The Leeds Colorectal Cancer Study was funded by the Food Standards Agency and Cancer Research UK Programme Award (C588/A19167)." . _:15222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of colorectal cancer in the United Kingdom that recruited histologically confirmed incident cases aged 45–80, diagnosed in 1997–2000 at hospitals in Dundee, Leeds and York and in 2000–2013 in Leeds only, with controls matched for age and sex from the cases' general practice lists (supplemented after 2000 by friends or spouses of Leeds cases), all interviewed about diet, smoking and other lifestyle factors."; "PMID:12584178", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5806861/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1910; "cases and controls in the UK-CCSG dataset, recruitment 1997-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5806861/fullTextXML"; rdfs:comment "Overall, the UK-CCSG dataset consisted of 1910 cases and 1275 controls and the NIH-CCFR dataset consisted of 1415 cases and 986 controls." . _:15242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1275; "cases and controls in the UK-CCSG dataset, recruitment 1997-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5806861/fullTextXML"; rdfs:comment "Overall, the UK-CCSG dataset consisted of 1910 cases and 1275 controls and the NIH-CCFR dataset consisted of 1415 cases and 986 controls." . _:15252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCCS"; . _:15262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK-CCSG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5332; , ; , ; "GCST90504004", "PGS000734"; "A population-based case-control study of colorectal cancer in African Americans and whites in 33 counties of central and eastern North Carolina, United States, in which cases aged 40–80 were identified by rapid ascertainment through the North Carolina Central Cancer Registry, African Americans were oversampled, and controls were drawn from motor vehicle and Health Care Financing Administration records. Phase I enrolled colon cancer cases from October 1996 to September 2000 and phase II (NCCCS-II) cases of sigmoid, rectosigmoid and rectal cancer from May 2001 to September 2006, both collecting interview data on diet, medication use and other risk factors."; "NC Colorectal Cancer Study", "NCCCS", "NCCCS I & II", "NCCCS-II", "NCCCSI", "NCCCSII", "North Carolina Case-Control Study", "North Carolina Colon Cancer Studies", "North Carolina Colon Cancer Study-Phase II", "North Carolina Rectal Cancer Study", "UNC-Rectal", "University of North Carolina Rectal Cancer Study", "University of Noth Carolina Rectal Cancer Study"; , ; rdfs:label "North Carolina Colon Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5332 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5332; "colorectal cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2709952/unicode"; rdfs:comment "The North Carolina Colon Cancer Studies I and II (NCCCS I and NCCCS II) were population-based case-control studies conducted in 33 counties of North Carolina." . _:15282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4067325/fullTextXML"; rdfs:comment "Data were collected as part of the North Carolina Colon Cancer Study (NCCCS), a population-based, case–control study conducted in 33 contiguous counties of central and eastern North Carolina, including both rural and urban areas [17]." . _:15292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "NCCCS I & II: We would like to thank the study participants, and the NC Colorectal Cancer Study staff." . _:152a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:152b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of colorectal cancer in African Americans and whites in 33 counties of central and eastern North Carolina, United States, in which cases aged 40–80 were identified by rapid ascertainment through the North Carolina Central Cancer Registry, African Americans were oversampled, and controls were drawn from motor vehicle and Health Care Financing Administration records. Phase I enrolled colon cancer cases from October 1996 to September 2000 and phase II (NCCCS-II) cases of sigmoid, rectosigmoid and rectal cancer from May 2001 to September 2006, both collecting interview data on diet, medication use and other risk factors."; "PMID:19336553", "PMID:19842051", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4067325/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6013500/fullTextXML", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3111915/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:152c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCCS"; . _:152d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCCS I & II"; . _:152e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCCS-II"; . _:152f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCCSI"; . _:15302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCCSII"; . _:15312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UNC-Rectal"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5344, _:genid-371333f489424440b12a13b9d98ced822608-genid5346, _:genid-371333f489424440b12a13b9d98ced822608-genid5348; , ; , , , ; "GCST90399849", "MTBLS7776"; "A randomized, placebo-controlled trial of alpha-tocopherol and beta-carotene supplements for the primary prevention of lung and other cancers in 29,133 male smokers aged 50–69 in Finland, recruited in 1985–1988 and supplemented for five to eight years, whose participants have since been followed as a cohort for cancer and other outcomes."; 29133; "ATBC", "ATBC Study", "Alpha-Tocopherol, Beta Carotene Cancer Prevention Study"; , ; rdfs:label "Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5344 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5346 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5348 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5344; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329778/fullTextXML"; rdfs:comment "Briefly, ATBC was a randomized placebo‐controlled trial (NCT00342992 clinicaltrials.gov) examining α‐tocopherol and/or β‐carotene for primary prevention of lung and other cancers in 29,133 male Finnish smokers, aged 50–69 years at recruitment between 1985 and 1988." . _:15332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5346; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329778/fullTextXML"; rdfs:comment "Briefly, ATBC was a randomized placebo‐controlled trial (NCT00342992 clinicaltrials.gov) examining α‐tocopherol and/or β‐carotene for primary prevention of lung and other cancers in 29,133 male Finnish smokers, aged 50–69 years at recruitment between 1985 and 1988." . _:15342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5348; "cigarette smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329778/fullTextXML"; rdfs:comment "Briefly, ATBC was a randomized placebo‐controlled trial (NCT00342992 clinicaltrials.gov) examining α‐tocopherol and/or β‐carotene for primary prevention of lung and other cancers in 29,133 male Finnish smokers, aged 50–69 years at recruitment between 1985 and 1988." . _:15352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329778/fullTextXML"; rdfs:comment "Briefly, ATBC was a randomized placebo‐controlled trial (NCT00342992 clinicaltrials.gov) examining α‐tocopherol and/or β‐carotene for primary prevention of lung and other cancers in 29,133 male Finnish smokers, aged 50–69 years at recruitment between 1985 and 1988." . _:15362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399849"; "Genetic influences on circulating retinol and its relationship to human health."; "PMID:38374065", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10876955/fullTextXML"; rdfs:comment "In this study, we used three input datasets – INTERVAL, METSIM, and ATBC/PLCO." . _:15372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS7776"; "Identification of pre-diagnostic lipid sets associated with liver cancer risk using untargeted lipidomics and chemical set analysis: A nested case-control study within the ATBC cohort."; "PMID:37694774", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS7776"; rdfs:comment "We conducted a high-resolution mass spectrometry based untargeted lipidomics analysis of pre-diagnostic serum samples from a nested case-control study (219 liver cancer cases and 219 controls) within the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study." . _:15382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, placebo-controlled trial of alpha-tocopherol and beta-carotene supplements for the primary prevention of lung and other cancers in 29,133 male smokers aged 50–69 in Finland, recruited in 1985–1988 and supplemented for five to eight years, whose participants have since been followed as a cohort for cancer and other outcomes."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329778/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9992367/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 29133; "male smokers aged 50-69 randomised 1985-1988"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9992367/fullTextXML"; rdfs:comment "Male Finnish smokers (N = 29,133) ages 50–69 years were assigned to receive either alpha-tocopherol (dl-α-tocopheryl-acetate, 50 mg/day), beta-carotene (20 mg/day), both vitamins, or placebo for 5–8 years (a median of 6.1 years)." . _:153a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5356; , ; "GCST012432"; "A longitudinal cohort of 1,195 children born in 2002-2003 and recruited in 2006 at about 3.5 years of age from childcare centres of the low-to-middle income South East Area of Santiago, Chile, measured annually (six-monthly from 2010) at the Instituto de Nutrición y Tecnología en Alimentos into adolescence to study growth, puberty and obesity."; 1195; "Chilean Growth and Obesity Cohort Study", "GOCS", "GOCS_Chilean"; ; rdfs:label "Growth and Obesity Chilean Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5356 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:153b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5356; "obesity" . _:153c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8553699/fullTextXML"; rdfs:comment "This is a longitudinal follow-up of 1195 individuals recruited in 2006 (aged 3.5 years old) at different childcare centers from the South East Area of Santiago, Chile." . _:153d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST012432"; "Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys."; "PMID:34047840", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8553699/fullTextXML"; rdfs:comment "We analized individuals of the “Growth and Obesity Chilean Cohort Study” (GOCS)" . _:153e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of 1,195 children born in 2002-2003 and recruited in 2006 at about 3.5 years of age from childcare centres of the low-to-middle income South East Area of Santiago, Chile, measured annually (six-monthly from 2010) at the Instituto de Nutrición y Tecnología en Alimentos into adolescence to study growth, puberty and obesity."; "PMID:34047840"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:153f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1195; "children recruited in 2006 at about 3.5 years"; "PMID:34047840"; rdfs:comment "This is a longitudinal follow-up of 1195 individuals recruited in 2006 (aged 3.5 years old) at different childcare centers from the South East Area of Santiago, Chile." . _:15402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOCS"; . _:15412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOCS_Chilean"; . a owl:NamedIndividual, ; , , ; ; "GCST90451761"; "A population-based cohort of about 173,000 Korean men and women aged 40 and over recruited in 2004–2013 from the national health examinee registry at health examination centres, mainly in urban areas, as the largest cohort of the Korean Genome and Epidemiology Study, to identify environmental and genetic risk factors for major chronic diseases in Koreans."; 173357; "HEXA", "Health EXAminees", "Health Examinee", "Health Examinee Shared Control Study", "Health Examinee Study", "Health Examinees cohort", "KoGES Health Examinee", "KoGES_HEXA", "KoGES_health examinee study", "Korean Genome and Epidemiology Study Health Examination (KoGES_HEXA) cohort"; ; rdfs:label "Health Examinees Study"@en . _:15422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10703335/fullTextXML"; rdfs:comment "In this study, we conducted a GWAS analysis on patients with gout in Korea based on the Health Examinees study (HEXA) cohort and KARE cohort of the Korean Genome and Epidemiology Study (KoGES)." . _:15432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451761"; "Single-nucleotide polymorphisms link gout with health-related lifestyle factors in Korean cohorts."; "PMID:38060535", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10703335/fullTextXML"; rdfs:comment "In this study, we conducted a GWAS analysis on patients with gout in Korea based on the Health Examinees study (HEXA) cohort and KARE cohort of the Korean Genome and Epidemiology Study (KoGES)." . _:15442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 173,000 Korean men and women aged 40 and over recruited in 2004–2013 from the national health examinee registry at health examination centres, mainly in urban areas, as the largest cohort of the Korean Genome and Epidemiology Study, to identify environmental and genetic risk factors for major chronic diseases in Koreans."; "PMID:27085081", "PMID:38060535", "PMID:39050255"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 173357; "participants at baseline, 2004-2013"; "https://europepmc.org/api/getPdf?pmcid=PMC5837648"; rdfs:comment "KoGES_HEXA (n¼173357)" . _:15462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HEXA"; . _:15472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KoGES_HEXA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5370; , ; , ; "GCST90053837"; "A population-based registry of colorectal cancer patients in the Canadian province of Newfoundland and Labrador, run from Memorial University of Newfoundland, that in 1999–2003 recruited about 750 patients diagnosed under the age of 75 to study the genetic and familial factors behind the province's high colorectal cancer incidence and has followed them for recurrence and survival for up to 19 years. For a population-based case-control study, controls frequency-matched to the cases by age group and sex were selected from the province's residents by random digit dialling."; 730; "NFCCR", "Newfoundland Case-Control Study", "Newfoundland Familial Colon Cancer Registry", "Newfoundland Familial Colorectal Cancer Registry", "Newfoundland Familial Colorectal Cancer Study"; ; rdfs:label "Newfoundland Colorectal Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5370 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5370; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17039269+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In order to investigate the factors, especially genetic components, responsible for CRC we established the Newfoundland Colorectal Cancer Registry." . _:15492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8637572/fullTextXML"; rdfs:comment "In this study, we examined 505 and 495 Caucasian patients from Newfoundland, Canada, in the SNP and CNV analysis parts, respectively." . _:154a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90053837"; "A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer."; "PMID:34309201", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8637572/fullTextXML"; rdfs:comment "Patients in the Newfoundland Colorectal Cancer Registry (NFCCR) cohort were diagnosed between 1999 and 2003" . _:154b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based registry of colorectal cancer patients in the Canadian province of Newfoundland and Labrador, run from Memorial University of Newfoundland, that in 1999–2003 recruited about 750 patients diagnosed under the age of 75 to study the genetic and familial factors behind the province's high colorectal cancer incidence and has followed them for recurrence and survival for up to 19 years. For a population-based case-control study, controls frequency-matched to the cases by age group and sex were selected from the province's residents by random digit dialling."; "PMID:17039269", "PMID:21033532", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4393623/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8637572/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:154c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 730; "consenting colorectal cancer cases diagnosed under 75 in a 5-year period (1999-2003)"; "PMID:17039269"; rdfs:comment "In a 5-year period we examined every case of CRC diagnosed under the age of 75 years and obtained consent from 730 cases." . _:154d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFCCR"; . a owl:NamedIndividual, ; , , ; "GCST90454398"; "A corporate genome cohort of employees of Toshiba Corporation, a Japanese electronics company, whose health-care database for precision-medicine research holds genomic, health check-up, questionnaire and prescription data of consenting employees (over 11,600 of whom had given genetic samples by 2024), used for genetic studies such as of side effects after COVID-19 booster vaccination."; 11605; "Toshiba"; ; rdfs:label "Toshiba cohort"@en . _:154e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12531883/fullTextXML"; rdfs:comment "This study was conducted at Toshiba Corp, an electronics manufacturer in Japan." . _:154f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454398"; "Genome-wide association study of common side effects following COVID-19 booster vaccination in a cohort of corporate employees in Japan."; "PMID:40222985", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11994816/fullTextXML"; rdfs:comment "Toshiba has established a health-care database focusing on “Research aimed at realizing precision medicine that can select optimal preventive and treatment methods”." . _:15502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A corporate genome cohort of employees of Toshiba Corporation, a Japanese electronics company, whose health-care database for precision-medicine research holds genomic, health check-up, questionnaire and prescription data of consenting employees (over 11,600 of whom had given genetic samples by 2024), used for genetic studies such as of side effects after COVID-19 booster vaccination."; "PMID:40222985", "PMID:41100086"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11605; "employees who had provided genetic samples to the company (by 2024)"; "PMID:41100086"; rdfs:comment "We recruited study participants from 11 605 employees who had already provided genetic samples to the company." . _:15522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Toshiba"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5382, _:genid-371333f489424440b12a13b9d98ced822608-genid5384; , ; ; "GCST90837567", "PMID:42509442"; "A genome-wide association sub-study of the Women's Health Initiative hormone therapy trials (dbGaP WHIMS+) of European-ancestry trial participants genotyped on the Illumina HumanOmniExpress array, selected so that together with WHI GARNET they represent the WHI European American hormone trial population. It comprises the participants of the WHI Memory Study (an ancillary trial of hormone therapy and cognition in 7,479 women aged 65–80) who were not in GARNET, and other hormone trial women, aged 65 or over or younger, who were in neither WHIMS nor GARNET."; 5740; "WHI Memory Study", "WHI-MS", "WHIMS", "WHIMS+", "Womens Health Initiative Memory Study"; ; rdfs:label "Women's Health Initiative Memory Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5382 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5384 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5382; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12928021/fullTextXML"; rdfs:comment "WHIMS, an ancillary study of the WHI Hormone Trials, was designed to investigate the effects of hormone therapy (conjugated equine estrogens (CEE) alone vs. placebo or CEE plus medroxyprogesterone [E + P] acetate vs. placebo) on cognitive outcomes among 7479 women aged 65–80 years recruited from 39 clinical sites across the United States who were cognitively unimpaired at randomization (1996–1999)" . _:15542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5384; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12928021/fullTextXML"; rdfs:comment "WHIMS, an ancillary study of the WHI Hormone Trials, was designed to investigate the effects of hormone therapy (conjugated equine estrogens (CEE) alone vs. placebo or CEE plus medroxyprogesterone [E + P] acetate vs. placebo) on cognitive outcomes among 7479 women aged 65–80 years recruited from 39 clinical sites across the United States who were cognitively unimpaired at randomization (1996–1999)" . _:15552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12928021/fullTextXML"; rdfs:comment "WHIMS, an ancillary study of the WHI Hormone Trials, was designed to investigate the effects of hormone therapy (conjugated equine estrogens (CEE) alone vs. placebo or CEE plus medroxyprogesterone [E + P] acetate vs. placebo) on cognitive outcomes among 7479 women aged 65–80 years recruited from 39 clinical sites across the United States who were cognitively unimpaired at randomization (1996–1999)" . _:15562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12928021/fullTextXML"; rdfs:comment "WHIMS, an ancillary study of the WHI Hormone Trials, was designed to investigate the effects of hormone therapy (conjugated equine estrogens (CEE) alone vs. placebo or CEE plus medroxyprogesterone [E + P] acetate vs. placebo) on cognitive outcomes among 7479 women aged 65–80 years recruited from 39 clinical sites across the United States who were cognitively unimpaired at randomization (1996–1999)" . _:15572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837567"; "Genome-wide gene-sleep interaction study identifies novel lipid loci in 732,564 participants."; "PMID:41325697", "https://pmc.ncbi.nlm.nih.gov/articles/instance/12757440/bin/NIHMS2129447-supplement-Supplementary_Tables.xlsx"; rdfs:comment "Women's Health Initiative (WHI memory study)" . _:15582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42509442"; "Validation of fracture-derived polygenic scores with FRAX for fracture risk prediction in postmenopausal women."; "PMID:42509442", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13408118/fullTextXML"; rdfs:comment "Model development and internal validation were conducted using participants from the Genomics and Randomized Trials Network (WHI-GARNET), the WHI Memory Study (WHI-MS), and the SNP Health Association Resource (WHI-SHARe)." . _:15592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association sub-study of the Women's Health Initiative hormone therapy trials (dbGaP WHIMS+) of European-ancestry trial participants genotyped on the Illumina HumanOmniExpress array, selected so that together with WHI GARNET they represent the WHI European American hormone trial population. It comprises the participants of the WHI Memory Study (an ancillary trial of hormone therapy and cognition in 7,479 women aged 65–80) who were not in GARNET, and other hormone trial women, aged 65 or over or younger, who were in neither WHIMS nor GARNET."; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=bioproject&id=225655", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-019-0519-3/MediaObjects/41588_2019_519_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12928021/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:155a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5740; "genotyped subjects released in dbGaP phs000675 (WHIMS+ GWAS)"; "https://www.ncbi.nlm.nih.gov/gap/sstr/api/v1/study/phs000675/summary"; rdfs:comment "\"cnt_subjects\":{\"loaded\":5740" . _:155b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-MS"; . _:155c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIMS"; . _:155d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHIMS+"; . a owl:NamedIndividual, ; , ; ; "GCST001650", "PMID:42509442"; "A genome-wide association sub-study of the Women's Health Initiative comprising a randomly selected sample of about 8,500 African American and 3,600 Hispanic women from WHI, genotyped on the Affymetrix 6.0 array under the NHLBI SNP Health Association Resource (SHARe) project."; "The acronym SHARe also denotes Sinai-Helmsley Alliance for Research Excellence (COHO:0000725), SNP Health Association Asthma Resource Project (COHO:0002374) and Survey of Health, Ageing and Retirement in Europe (COHO:0002644); this term is WHI SNP Health Association Resource."@en; "SHARe", "WHI-SHARe", "Women's Health Initiative SNP Health Association Resource", "Women's Health Initiative SNP Health Association Resource GWAS study", "Womens Health Initiative SNP Health Association Resource"; ; rdfs:label "WHI SNP Health Association Resource"@en . _:155e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf"; rdfs:comment "A total of 161,838 women aged 50–79 years old were recruited from 40 clinical centers in the US between 1993 and 1998." . _:155f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714283/fullTextXML"; rdfs:comment "Black and Hispanic WHI participants were drawn from the single nucleotide polymorphism (SNP) Health Association Resource Project (SHARe) (National Institutes of Health 2011)." . _:15602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001650"; "Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women."; "PMID:22939635", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939635%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "We performed genome-wide association studies (GWASs) of 8,280 African American (AA) and 3,548 Hispanic American (HA) postmenopausal women from the Women's Health Initiative SNP Health Association Resource." . _:15612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42509442"; "Validation of fracture-derived polygenic scores with FRAX for fracture risk prediction in postmenopausal women."; "PMID:42509442", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13408118/fullTextXML"; rdfs:comment "Model development and internal validation were conducted using participants from the Genomics and Randomized Trials Network (WHI-GARNET), the WHI Memory Study (WHI-MS), and the SNP Health Association Resource (WHI-SHARe)." . _:15622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association sub-study of the Women's Health Initiative comprising a randomly selected sample of about 8,500 African American and 3,600 Hispanic women from WHI, genotyped on the Affymetrix 6.0 array under the NHLBI SNP Health Association Resource (SHARe) project."; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41398-025-03418-z/MediaObjects/41398_2025_3418_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714283/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHARe"; . _:15642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-SHARe"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5402, _:genid-371333f489424440b12a13b9d98ced822608-genid5404; , ; "GCST90297564"; "A whole-population birth cohort of the children born on the Isle of Wight, England, between 1 January 1989 and 28 February 1990, of whom 1,456 were enrolled for long-term follow-up and assessed at 1, 2, 4, 10, 18 and 26 years, to study the prevalence, natural history and risk and protective factors of asthma and allergic diseases from infancy into adulthood."; 1456; "IOW", "IOWBC", "IoW", "Isle Of Wight Whole Population Birth Cohort", "Isle of Wight", "Isle of Wight 1989 birth cohort", "Isle of Wight Birth Cohort"; ; rdfs:label "Isle of Wight Whole Population Birth Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5402 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5404 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5402; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6124620/"; rdfs:comment "Parental consent was obtained from 1456 of the 1536 children for inclusion into a longitudinal study of asthma and allergic disease (Figure 1)." . _:15662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5404; "allergic diseases"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6124620/"; rdfs:comment "Parental consent was obtained from 1456 of the 1536 children for inclusion into a longitudinal study of asthma and allergic disease (Figure 1)." . _:15672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "The Study Team for Early Life Asthma Research (STELAR) consortium (Custovic et al., 2015) brings together five UK population-based birth cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC) (Golding et al., 2001), Ashford (Cullinan et al., 2004) and Isle of Wight (IOW) (Arshad et al., 2018) cohorts" . _:15682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90297564"; "A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifies ANXA1 as a susceptibility locus for persistent wheezing."; "PMID:37227431", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "Ashford (Cullinan et al., 2004) and Isle of Wight (IOW) (Arshad et al., 2018) cohorts" . _:15692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A whole-population birth cohort of the children born on the Isle of Wight, England, between 1 January 1989 and 28 February 1990, of whom 1,456 were enrolled for long-term follow-up and assessed at 1, 2, 4, 10, 18 and 26 years, to study the prevalence, natural history and risk and protective factors of asthma and allergic diseases from infancy into adulthood."; "PMID:29547889", "PMID:31831580"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:156a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1456; "children enrolled with parental consent for the longitudinal study (born 1989-1990)"; "PMID:29547889"; rdfs:comment "Parental consent was obtained from 1456 of the 1536 children for inclusion into a longitudinal study of asthma and allergic disease (Figure 1)." . _:156b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IOW"; . _:156c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IOWBC"; . _:156d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IoW"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5413; , ; ; "GCST90091013"; "A long-running programme of studies of type 2 diabetes and related chronic disease among Mexican Americans in Starr County, Texas, on the Texas-Mexico border, run from the University of Texas Health Science Center at Houston, which include a random sample of 14% of the county's population reported in 1983, type 2 diabetes case-control collections in 1987-2006, and a household survey of randomly selected blocks with examinations in 2002-2006 and re-examinations in 2010-2014, to study the prevalence, risk factors, genetics and complications of diabetes."; 5230; "STARR COUNTY", "Starr", "Starr County"; ; rdfs:label "Starr County Health Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5413 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:156e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5413; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A6637993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To assess the prevalence and morbidity of noninsulin-dependent diabetes mellitus among Mexican Americans, 14% of the Starr County, Texas, population (97% Mexican-American) was randomly sampled." . _:156f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27266869%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Starr County, Texas, with its predominantly Mexican American population has been shown previously to bear a disproportionate burden of the major disease categories" . _:15702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091013"; "Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program."; "PMID:34446064", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394596/fullTextXML"; rdfs:comment "The Starr County Health Studies (Starr) investigates the risk factors for diabetes in Mexican-Americans [31, 32]." . _:15712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A long-running programme of studies of type 2 diabetes and related chronic disease among Mexican Americans in Starr County, Texas, on the Texas-Mexico border, run from the University of Texas Health Science Center at Houston, which include a random sample of 14% of the county's population reported in 1983, type 2 diabetes case-control collections in 1987-2006, and a household survey of randomly selected blocks with examinations in 2002-2006 and re-examinations in 2010-2014, to study the prevalence, risk factors, genetics and complications of diabetes."; "PMID:21647700", "PMID:6637993", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4897940/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8394596/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5230; "individuals aged 20+ screened in the 2002-2006 household survey (one component of the programme)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4897940/fullTextXML"; rdfs:comment "Household screening of 5230 individuals aged 20 years and above followed by direct physical assessment of 1610 identified 23.7 % of men and 26.7 % of women with type 2 diabetes, 46.2 and 49.5 % of men and women, respectively with obesity and 32.1 and 32.4 % with hypertension." . _:15732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STARR COUNTY"; . _:15742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Starr"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5421; ; , , , , , , , , , ; , ; "PMID:20732625"; "A European multi-site family sample of children aged 5 to 17 with DSM-IV combined-type ADHD, their siblings and parents, all of white European Caucasian descent, recruited in 2003-2007 at specialist ADHD clinics in eight countries for molecular genetic studies of ADHD, including candidate-gene, linkage and genome-wide association analyses; a second phase (IMAGE II) combined ADHD cases from the original project and from further clinics in Germany, the Netherlands and the UK with population controls for genome-wide association."; 1068; "IMAGE", "IMAGE II", "IMAGE-I", "IMAGE-II", "International Multi-Center ADHD Gene Project", "International Multi-centre ADHD Gene project", "International Multi-centre ADHD Genetics project", "International Multicenter ADHD Genetics project", "International Multicentre ADHD Genetic study", "image-i, image-ii", "international multicentre ADHD genetics study"; rdfs:label "International Multicentre ADHD Genetics project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5421 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5421; "attention deficit/hyperactivity disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21473745+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Behavioural data were collected from 1068 probands with the combined type of attention deficit/hyperactivity disorder (ADHD-CT) and 1446 'unselected' siblings." . _:15762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559631/fullTextXML"; rdfs:comment "The sample consists of European Caucasian subjects recruited from twelve specialist clinics in eight countries: Belgium, Germany, Holland, Ireland, Israel, Spain, Switzerland and United Kingdom." . _:15772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20732625"; "Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder."; "PMID:20732625", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20732625+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II)" . _:15782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European multi-site family sample of children aged 5 to 17 with DSM-IV combined-type ADHD, their siblings and parents, all of white European Caucasian descent, recruited in 2003-2007 at specialist ADHD clinics in eight countries for molecular genetic studies of ADHD, including candidate-gene, linkage and genome-wide association analyses; a second phase (IMAGE II) combined ADHD cases from the original project and from further clinics in Germany, the Netherlands and the UK with population controls for genome-wide association."; "PMID:16887023", "PMID:20732625", "PMID:21473745"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1068; "probands with combined-type ADHD (IMAGE I), besides siblings and parents (2007)"; "PMID:21473745"; rdfs:comment "Behavioural data were collected from 1068 probands with the combined type of attention deficit/hyperactivity disorder (ADHD-CT) and 1446 'unselected' siblings." . _:157a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMAGE"; . _:157b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMAGE II"; . _:157c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMAGE-I"; . _:157d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMAGE-II"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5431; , , ; , , , , ; "PMID:16076393"; "An NHLBI-sponsored programme uniting four independently established multicentre family networks (GenNet, GENOA, HyperGEN and SAPPHIRe) that recruited African American, Mexican American, Asian and non-Hispanic white participants, with standardised core protocols and a pooled phenotype and genotype data set of over 11,000 individuals, to study the genetic determinants of blood pressure and hypertension."; 13592; "FBPP", "NHLBI Family Blood Pressure Program", "National Heart, Lung, and Blood Institute Family Blood Pressure Program", "The Family Blood Pressure Program"; rdfs:label "Family Blood Pressure Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5431 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:157e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5431; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16076393+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A major part of participants in three networks GENOA, HyperGEN and SAPPHIRe were recruited mainly through hypertensive probands." . _:157f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "The FBPP is comprised of 4 different networks: GenNet, GENOA, HyperGEN, and SAPPHIRe." . _:15802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "The FBPP is comprised of 4 different networks: GenNet, GENOA, HyperGEN, and SAPPHIRe." . _:15812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "The FBPP is comprised of 4 different networks: GenNet, GENOA, HyperGEN, and SAPPHIRe." . _:15822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "SAPPHIRe (Stanford Asian Pacific Program in Hypertension and Insulin Resistance), with 3 major field centers, recruited Asian Pacific populations of Chinese origin residing in Taiwan and of Japanese origin residing in Hawaii, and California." . _:15832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16076393"; "An evaluation of the metabolic syndrome in a large multi-ethnic study: the Family Blood Pressure Program."; "PMID:16076393", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16076393%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The Family Blood Pressure Program is an ongoing, NHLBI-sponsored, multi-center program to study the genetic determinants of high blood pressure." . _:15842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An NHLBI-sponsored programme uniting four independently established multicentre family networks (GenNet, GENOA, HyperGEN and SAPPHIRe) that recruited African American, Mexican American, Asian and non-Hispanic white participants, with standardised core protocols and a pooled phenotype and genotype data set of over 11,000 individuals, to study the genetic determinants of blood pressure and hypertension."; "PMID:11799070", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13592; "participants in the FBPP pooled database (version 3) from the 4 networks (2005)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1201342/fullTextXML"; rdfs:comment "The FBPP pooled database (version 3) of 13,592 participants from 4 different networks represents one of the largest compilations of ethnically diverse data." . _:15862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBPP"; . a owl:NamedIndividual, ; ; , ; , ; "PMID:17370032"; "A randomized, double-blind trial of low-dose aspirin and vitamin E for the primary prevention of cardiovascular disease and cancer among 39,876 apparently healthy US female health professionals aged 45 or older, begun in 1992 and followed as a prospective cohort for incident disease."; 39876; "WHS", "Womens Health Study"; rdfs:label "Women's Health Study"@en . _:15872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1852917/fullTextXML"; rdfs:comment "This study assessed awareness and determinants of cholesterol knowledge among 39,876 US female health professionals in the Women’s Health Study." . _:15882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17370032"; "Awareness, accuracy, and predictive validity of self-reported cholesterol in women."; "PMID:17370032", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1852917/fullTextXML"; rdfs:comment "This study assessed awareness and determinants of cholesterol knowledge among 39,876 US female health professionals in the Women’s Health Study." . _:15892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind trial of low-dose aspirin and vitamin E for the primary prevention of cardiovascular disease and cancer among 39,876 apparently healthy US female health professionals aged 45 or older, begun in 1992 and followed as a prospective cohort for incident disease."; "PMID:18070814", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1852917/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:158a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 39876; "women randomised in the aspirin and vitamin E trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1852917/fullTextXML"; rdfs:comment "The Women’s Health Study (WHS) was a randomized, double-blind, clinical trial of low-dose aspirin and vitamin E in the primary prevention of CVD and cancer among 39,876 apparently healthy women age ≥45 years." . _:158b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5446; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90502765"; "An international consortium coordinated at the Fred Hutchinson Cancer Center in Seattle that pools individual-level genetic and epidemiological data from about 70 colorectal cancer case-control, cohort and trial studies in North America, Australia, Asia and Europe, over 130,000 participants, to identify genetic risk factors and gene-environment interactions for colorectal cancer and study their effects on tumours and survival."; 130000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GECCO"; "GECCO", "Geoscience and health cohort consortium"; , ; rdfs:label "Genetics and Epidemiology of Colorectal Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5446 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:158c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5446; "colorectal cancer"; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "GECCO is now aiming to broaden its investigation of colorectal cancer risk by examining tumor characteristics in concert with host characteristics." . _:158d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Cancer Prevention Study II (CPSII)" . _:158e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Colorectal Cancer Study of Austria (CORSA)" . _:158f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "European Prospective Investigation into Cancer (EPIC)" . _:15902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Multiethnic Cohort (MEC)" . _:15912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "UK Biobank (UKB)" . _:15922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Women's Health Initiative (WHI)" . _:15932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Nurses' Health Study (NHS)" . _:15942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH)" . _:15952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Prostate, Lung, Colorectal, and Ovarian (PLCO)" . _:15962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Melbourne Collaborative Cohort Study (MCCS)" . _:15972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Health Professionals Follow-up Study (HPFS)" . _:15982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Shanghai Women's Health Study (SWHS)" . _:15992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Darmkrebs: Chancen der Verhütung durch Screening (DACHS)" . _:159a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Diet, Activity, and Lifestyle Study (DALS)" . _:159b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Swedish Mammography Cohort (SMC) and COSMs (SMC_COSM)" . _:159c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Shanghai Men's Health Study (SMHS)" . _:159d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "CancerScreening Trial; VITamins And Lifestyle (VITAL) cohort" . _:159e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Colorectal Cancer Genetics & Genomics (CRCGEN)" . _:159f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Leeds Colorectal Cancer Study (LCCS)" . _:15a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "North Carolina Case-Control Study, I (NCCCSI)" . _:15a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC)" . _:15a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Newfoundland Familial Colorectal Cancer Study (NFCCR)" . _:15a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Molecular Epidemiology of Colorectal Cancer (MECC) study" . _:15a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Campaign against Cancer and Heart Disease II (CLUE II)" . _:15a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Epidemiologische Studie zu Chancen der Verhutung, Fruherkennung und optimierten THerapie chronischer ERkrankungen in der alteren Bevolkerung (ESTHER II/VERDI)" . _:15a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Selenium and Vitamin E Prevention Trial (SELECT)" . _:15a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Kentucky Case-Control study (Kentucky)" . _:15a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "A case-control study from the University of Hawai’i (Colo 2&3)" . _:15a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "French Association Study Evaluating RISK for sporadic colorectal cancer (ASTERISK)" . _:15aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Czech Republic Colorectal Cancer Study (Czech CCS)" . _:15ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Hawaiian Adenoma Case-Control Study (Hawaii CCS)" . _:15ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Studies of Epidemiology and Risk Factors in Cancer Heredity (SEARCH)" . _:15ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "ColoCare Study (ColoCare)" . _:15ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "Longitudinal, observational study on nutritional and lifestyle factors for colorectal cancer and related outcomes (COLON)" . _:15af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "GECCO and CCFR Study Descriptions Ontario Familial Colorectal Cancer Registry (OFCCR): In GECCO, a subset of the Assessment of Risk in Colorectal Tumors in Canada (ARCTIC) from the Ontario Registry for Studies of Familial Colorectal Cancer (OFCCR) was used." . _:15b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:15b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23880798+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All four studies participated in the Genetics and Epidemiology of Colorectal Cancer Consortium." . _:15b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502765"; "Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer."; "PMID:38408508", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11213623/fullTextXML"; rdfs:comment "The study comprised a meta-analysis of existing genotyped and imputed data for 6176 EOCRC cases (<50 years of age) and 65 829 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), the Colorectal Transdisciplinary Study (CORECT), the Colon Cancer Family Registry (CCFR), and the UK Biobank." . _:15b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium coordinated at the Fred Hutchinson Cancer Center in Seattle that pools individual-level genetic and epidemiological data from about 70 colorectal cancer case-control, cohort and trial studies in North America, Australia, Asia and Europe, over 130,000 participants, to identify genetic risk factors and gene-environment interactions for colorectal cancer and study their effects on tumours and survival."; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 130000; "participants with individual-level data managed by the coordinating center, from 70 studies (stated as over 130,000)"; "https://www.fredhutch.org/en/research/divisions/public-health-sciences-division/research/cancer-prevention/genetics-epidemiology-colorectal-cancer-consortium-gecco.html"; rdfs:comment "The GECCO coordinating center manages individual level genetic and epidemiological data of over 130,000 participants from 70 studies from North America, Australia, Asia, and Europe." . _:15b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GECCO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5489; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90308762"; "An international consortium of prostate cancer study groups, reported in 2008 as a worldwide consortium of 13 groups, that pools genotype and clinical data from prostate cancer case-control and cohort studies in North America, Europe, Asia and Australia to investigate inherited susceptibility to prostate cancer and its clinical course."; 79194; 61112; "PRACTICAL", "PRACTICAL Consortium", "PRostate cancer AssoCiation group To Investigate Cancer-Associated aLterations in the genome", "Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome", "Prostate Cancer Association Group to Investigate Cancer-Associated Alterations"; ; rdfs:label "Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5489 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5489; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18708398+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated the most significant single-nucleotide polymorphisms (SNP) in these loci using a worldwide consortium of 13 groups (PRACTICAL). Blood DNA from 7,370 prostate cancer cases and 5,742 male controls was analyzed by genotyping assays." . _:15b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "Of the studies within the PRACTICAL Consortium at the time of data extraction, we excluded the EPIC-Norfolk, CAPS, and SEARCH studies" . _:15b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "European Prospective Investigation Into Cancer and Nutrition (EPIC)" . _:15b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "Of the studies within the PRACTICAL Consortium at the time of data extraction, we excluded the EPIC-Norfolk, CAPS, and SEARCH studies" . _:15ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "Multiethnic Cohort Study (MEC)" . _:15bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "Melbourne Collaborative Cohort Study (MCCS)" . _:15bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10592169/unicode"; rdfs:comment "Both the HPFS/PHS and FH genetic studies are within the framework of the PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium." . _:15bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10592169/unicode"; rdfs:comment "Both the HPFS/PHS and FH genetic studies are within the framework of the PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium." . _:15be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "Additional funding and acknowledgments from studies in PRACTICAL: Information of the PRACTICAL consortium can be found at http://practical.icr.ac.uk/ Aarhus This study was supported by Innovation Fund Denmark, the Danish Cancer Society and The Velux Foundation (Veluxfonden)." . _:15bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "The Australian Prostate Cancer BioResource (APCB) was supported by The National Health and Medical Research Council, Enabling Grant [614296] and the Prostate Cancer Foundation of Australia." . _:15c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Additional funding and acknowledgments from studies in PRACTICAL: Information of the PRACTICAL consortium can be found at http://practical.ccge.medschl.cam.ac.uk/ Aarhus This study was supported by Innovation Fund Denmark, the Danish Cancer Society, and The Velux Foundation (Veluxfonden). The Danish Cancer Biobank (DCB) is acknowledged for biological material. AHS This work was supported by the Intramural Research Program of the NIH, National Cancer Institute, Division of Cancer Epidemiology and Genetics (Z01CP010119). ATBC The ATBC Study is supported by the Intramural Research Program of the U.S. National Cancer Institute, National Institutes of Health, and by U.S. Public Health Service contract HHSN261201500005C from the National Cancer Institute, Department of Health and Human Services. Canary PASS PASS was supported by Canary Foundation and the National Cancer Institute's Early Detection Research Network )U01 CA086402) CCI This work was awarded by Prostate Cancer Canada and is proudly funded by the Movember Foundation - Grant # D2013-36." . _:15c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "CHIPGECS (n=1070) Chinese Prostate Cancer Genetic and Environmental Correlation Study China Population- based, case- control, observational" . _:15c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "Oslo (n=1453) Oslo University Hospital / General Cohort of Adults in Norway (CONOR) Oslo, Norway Population- based, observational" . _:15c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4924371/fullTextXML"; rdfs:comment "Data were not available for grade in two (MEC/UTAH), or stage in three (CPCS1/CPCS2/QLD), of the PRACTICAL studies, respectively." . _:15c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4957617/"; rdfs:comment "MCCS includes Risk Factors for Prostate Cancer Study (RFPCS) and The Early Onset Prostate Cancer Study (EOPCS). dInformation missing for >10% of individuals. n/a not available." . _:15c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "The IPO-Porto study was funded by Fundação para a Ciência e a Tecnologia (FCT; UID/DTP/00776/2013 and PTDC/DTP-PIC/1308/2014) and FEDER (POCI-01-0145-FEDER-028245)." . _:15c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4596899/"; rdfs:comment "MOFFITT USA 100 412 64.9 7.3 0.0 22.9 11.2 3.5 0.5" . _:15c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "The Moffitt Group (MOFFITT); Prostate Cancer study Medical University Sofia (PCMUS); Prostate Project Foundation-Postgraduate Medical School, Surrey (PPF-UNIS); The Poland Group (Poland)" . _:15c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "Prostate Cancer study Medical University Sofia (PCMUS); Prostate Project Foundation-Postgraduate Medical School, Surrey (PPF-UNIS); The Poland Group (Poland)" . _:15c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "PROCAP was supported by the Swedish Cancer Foundation (08-708, 09-0677)." . _:15ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "The PROGReSS study is founded by grants from the Spanish Ministry of Health (INT15/00070; INT16/00154; FIS PI10/00164, FIS PI13/02030; FIS PI16/00046); the Spanish Ministry of Economy and Competitiveness (PTA2014-10228-I) and Fondo Europeo de Desarrollo Regional (FEDER 2007-2013)." . _:15cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "We would also like to acknowledge the support of the National Cancer Research Prostate Cancer: Mechanisms of Progression and Treatment (PROMPT) collaborative (grant code G0500966/75466) which has funded tissue and urine collections in Cambridge." . _:15cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "from the ProtecT population-based study [15, 28], one of the PRACTICAL studies with the relevant phenotypic data in a well-defined control group." . _:15cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4924371/fullTextXML"; rdfs:comment "Data were not available for grade in two (MEC/UTAH), or stage in three (CPCS1/CPCS2/QLD), of the PRACTICAL studies, respectively." . _:15ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "RAPPER is supported by Cancer Research UK [C1094/A11728; C1094/A18504] and Experimental Cancer Medicine Centre funding [C1467/A7286], and the NIHR Manchester Biomedical Research Centre." . _:15cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SFPCS was funded by California Cancer Research Fund grant 99-00527V-10182" . _:15d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8157993/unicode"; rdfs:comment "The data used in this work were obtained from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium." . _:15d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4924371/fullTextXML"; rdfs:comment "Finnish Genetic Predisposition to Prostate Cancer StudyTAMPEREFinland" . _:15d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4491026/unicode"; rdfs:comment "For analyses of the polygenic risk score (PRS) we also excluded 5 studies (MAYO, PCFS, TASPRAC, ULM and UTAH) that oversampled cases with family history of PrCa." . _:15d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41467-019-09775-w"; rdfs:comment "3031 cancer-free men recruited by the PRACTICAL Consortium—the UK Genetic Prostate Cancer Study (UKGPCS) (age <65 years), a study conducted through the Royal Marsden NHS Foundation Trust" . _:15d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4596899/"; rdfs:comment "UTAH USA 245 440 62.6 – – 51.4 16.1 – 4.7" . _:15d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf"; rdfs:comment "27 STHM1 2,330 2,056 4,386 2,224 2,006 4,230" . _:15d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308762"; "Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis."; "PMID:37340002", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10282036/fullTextXML"; rdfs:comment "We thank the Breast Cancer Association Consortium (BCAC) for breast cancer summary statistics and the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium for prostate cancer summary statistics." . _:15d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of prostate cancer study groups, reported in 2008 as a worldwide consortium of 13 groups, that pools genotype and clinical data from prostate cancer case-control and cohort studies in North America, Europe, Asia and Australia to investigate inherited susceptibility to prostate cancer and its clinical course."; "PMID:18708398", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8381233/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 79194; "prostate cancer cases and controls of European ancestry in the 2018 OncoArray GWAS meta-analysis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6568012/unicode"; rdfs:comment "We performed a fixed-effects meta-analysis combining the summary statistics from our OncoArray analysis and seven previous PrCa GWAS or high-density SNP panels of European ancestry imputed to the 1KGP The final meta-analysis included 79,194 PrCa cases and 61,112 controls without a known diagnosis of PrCa (Fig. 1)." . _:15d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 61112; "prostate cancer cases and controls of European ancestry in the 2018 OncoArray GWAS meta-analysis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6568012/unicode"; rdfs:comment "We performed a fixed-effects meta-analysis combining the summary statistics from our OncoArray analysis and seven previous PrCa GWAS or high-density SNP panels of European ancestry imputed to the 1KGP The final meta-analysis included 79,194 PrCa cases and 61,112 controls without a known diagnosis of PrCa (Fig. 1)." . _:15da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRACTICAL"; . a owl:NamedIndividual, ; ; , , ; "PMID:31110091"; "A population-based cohort of 14,465 Singapore citizens and permanent residents of Chinese, Malay and Indian ethnicity aged 21 years and older, recruited in 2004–2010 mainly from the Singapore Prospective Study Program and the Singapore Cardiovascular Cohort Study, with additional recruitment oversampling Malays and Indians, to study chronic disease in a multi-ethnic Asian population."; "The acronym MEC also denotes Multiethnic Cohort Study of Diet and Health (COHO:0000121); this term is Singapore Multi-Ethnic Cohort."@en; 14530; "MEC", "Multi-Ethnic Cohort Study", "SingaporeMEC"; rdfs:label "Singapore Multi-Ethnic Cohort"@en . _:15db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6530395/fullTextXML"; rdfs:comment "The Multi-Ethnic Cohort (MEC) Study is a population-based study in Singapore (n=14 530) with recruitment conducted between 2004 and 2010." . _:15dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31110091"; "Sociodemographic factors in relation to hypertension prevalence, awareness, treatment and control in a multi-ethnic Asian population: a cross-sectional study."; "PMID:31110091", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6530395/fullTextXML"; rdfs:comment "The Multi-Ethnic Cohort (MEC) Study is a population-based study in Singapore (n=14 530) with recruitment conducted between 2004 and 2010." . _:15dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 14,465 Singapore citizens and permanent residents of Chinese, Malay and Indian ethnicity aged 21 years and older, recruited in 2004–2010 mainly from the Singapore Prospective Study Program and the Singapore Cardiovascular Cohort Study, with additional recruitment oversampling Malays and Indians, to study chronic disease in a multi-ethnic Asian population."; "PMID:29452397", "PMID:31110091"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14530; "participants enrolled 2004-2010"; "https://europepmc.org/api/getPdf?pmcid=PMC6530395"; rdfs:comment "Results Among 14530 participants enrolled in the MEC study, 11101 individuals completed survey questionnaires and attended the health examination." . _:15df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEC"; . _:15e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SingaporeMEC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5533; ; , ; ; "PMID:32071038"; "The Danish arm of the ADDITION-Europe trial, in which people aged 40–69 without known diabetes registered with 181 general practices in Denmark were screened stepwise for diabetes in 2001–2006 and those with screen-detected type 2 diabetes, in practices cluster-randomised to routine care or intensive multifactorial treatment (with or without GP training in motivational interviewing), were followed for cardiovascular events and mortality."; "The acronym ADDITION also denotes Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care (COHO:0000614); this term is ADDITION-Denmark."@en; 1615; "ADDITION", "ADDITION study", "ADDITION-DK"; rdfs:label "ADDITION-Denmark"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5533 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5533; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7330202/fullTextXML"; rdfs:comment "The Danish arm of the ADDITION-Europe study7 was a trial of intensive treatment of people with screen-detected diabetes, which included training in motivational interviewing for GPs." . _:15e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7330202/fullTextXML"; rdfs:comment "In brief, between 2001 and 2006, a population-based stepwise screening programme was performed among people aged 40–69 years without known diabetes in 181 general practices in Denmark." . _:15e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7330202/fullTextXML"; rdfs:comment "The Danish arm of the ADDITION-Europe study7 was a trial of intensive treatment of people with screen-detected diabetes, which included training in motivational interviewing for GPs." . _:15e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32071038"; "The effect of training GPs in motivational interviewing on incident cardiovascular disease and mortality in people with screen-detected diabetes. Results from the ADDITION-Denmark randomised trial."; "PMID:32071038", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32071038+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the ADDITION-Denmark trial, 181 general practices were cluster randomised in a 2:1:1 ratio to: (i) to screening plus routine care of individuals with screen-detected diabetes (control group);" . _:15e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Danish arm of the ADDITION-Europe trial, in which people aged 40–69 without known diabetes registered with 181 general practices in Denmark were screened stepwise for diabetes in 2001–2006 and those with screen-detected type 2 diabetes, in practices cluster-randomised to routine care or intensive multifactorial treatment (with or without GP training in motivational interviewing), were followed for cardiovascular events and mortality."; "PMID:32071038"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1615; "people with screen-detected type 2 diabetes in the trial, 2001-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7330202/fullTextXML"; rdfs:comment "Between 2001 and 2006, 1615 individuals were found with screen-detected diabetes in ADDITION-Denmark practices." . _:15e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION"; . _:15e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION-DK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5542; ; , , , ; "PMID:21705063"; "A pragmatic cluster-randomised trial in 343 general practices in Denmark, the Netherlands and the UK, in which registered patients aged 40–69 without known diabetes were screened and the 3,057 with screen-detected type 2 diabetes received routine care or early intensive multifactorial treatment and were followed for cardiovascular events and death."; "The acronym ADDITION also denotes ADDITION-Denmark (COHO:0000613); this term is Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care."@en; 3057; "ADDITION", "ADDITION-Europe"; rdfs:label "Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5542 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5542; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3136726/fullTextXML"; rdfs:comment "Effect of early intensive multifactorial therapy on 5-year cardiovascular outcomes in individuals with type 2 diabetes detected by screening (ADDITION-Europe): a cluster-randomised trial" . _:15ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3136726/fullTextXML"; rdfs:comment "In a pragmatic, cluster-randomised, parallel-group trial done in Denmark, the Netherlands, and the UK, 343 general practices were randomly assigned screening of registered patients aged 40–69 years without known diabetes followed by routine care of diabetes or screening followed by intensive treatment of multiple risk factors." . _:15eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21705063"; "Effect of early intensive multifactorial therapy on 5-year cardiovascular outcomes in individuals with type 2 diabetes detected by screening (ADDITION-Europe): a cluster-randomised trial."; "PMID:21705063", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3136726/fullTextXML"; rdfs:comment "In a pragmatic, cluster-randomised, parallel-group trial done in Denmark, the Netherlands, and the UK, 343 general practices were randomly assigned screening of registered patients aged 40–69 years without known diabetes followed by routine care of diabetes or screening followed by intensive treatment of multiple risk factors." . _:15ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pragmatic cluster-randomised trial in 343 general practices in Denmark, the Netherlands and the UK, in which registered patients aged 40–69 without known diabetes were screened and the 3,057 with screen-detected type 2 diabetes received routine care or early intensive multifactorial treatment and were followed for cardiovascular events and death."; "PMID:21705063"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3057; "screen-detected patients with type 2 diabetes who agreed to take part"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3136726/fullTextXML"; rdfs:comment "Screening identified 3233 patients with type 2 diabetes, of whom 3057 agreed to take part (Denmark, n=1533; Cambridge, UK, n=867; Netherlands, n=498; and Leicester, UK, n=159)." . _:15ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION"; . _:15ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION-Europe"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5550; , ; , ; "PMID:41022758"; "A longitudinal hospital-based cohort and biobank of patients of the Montreal Heart Institute, a cardiology hospital enriched for cardiovascular disease, who consented to give a baseline blood sample with medical, nutritional, psychosocial, sociodemographic and lifestyle data, updated through hospital record linkage and four-yearly follow-up interviews, and who are genotyped for genetic and pharmacogenomic studies."; 20000; "André and France Desmarais MHI Biobank", "MHI", "MHI Biobank", "MHI Hospital Cohort", "MHIBB", "Montreal Heart Institute Hospital Cohort"; rdfs:label "Montreal Heart Institute Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5550 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:15f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5550; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12480102/fullTextXML"; rdfs:comment "The MHIBB is a cardiology hospital cohort in which there is obvious enrichment of CV diseases." . _:15f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41022758"; "Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases."; "PMID:41022758", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12480102/fullTextXML"; rdfs:comment "Our PGS assessed a cohort of 15,177 patients from the MHIBB, a hospital-based cohort including individuals predominantly of French-Canadian ancestry." . _:15f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal hospital-based cohort and biobank of patients of the Montreal Heart Institute, a cardiology hospital enriched for cardiovascular disease, who consented to give a baseline blood sample with medical, nutritional, psychosocial, sociodemographic and lifestyle data, updated through hospital record linkage and four-yearly follow-up interviews, and who are genotyped for genetic and pharmacogenomic studies."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12480102/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13532063/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372422/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "participants recruited by February 2015 (the 20,000th participant milestone; recruitment ongoing, target 30,000)"; "https://www.longwoods.com/newsdetail/4960"; rdfs:comment "a 26-year-old patient, has become the 20,000th participant in the Montreal Heart Institute Biobank." . _:15f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHI"; . _:15f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHIBB"; . a owl:NamedIndividual, ; , ; "GCST90841459"; "A prospective family study of 1,017 families (both parents and their children) from a postcode-defined area of central Exeter, United Kingdom, with anthropometry and fasting biochemistry at 28 weeks of gestation, cord blood at delivery and child follow-up to age 2 years, set up to test the fetal insulin hypothesis and identify genetic variants influencing birthweight and early postnatal growth."; "EFSOCH"; ; rdfs:label "Exeter Family Study of Childhood Health"@en . _:15f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16466435+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Specific inclusion criteria were established to obtain a homogeneous, non-diabetic, UK Caucasian cohort." . _:15f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841459"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/fullTextXML"; rdfs:comment "EFSOCH (EUR), Gen3G (EUR), FinnGeDi (EUR), ALSPAC (EUR), HAPO (EUR, AFR, EAS, SAS, HIS) and ELGH (SAS)." . _:15f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective family study of 1,017 families (both parents and their children) from a postcode-defined area of central Exeter, United Kingdom, with anthropometry and fasting biochemistry at 28 weeks of gestation, cord blood at delivery and child follow-up to age 2 years, set up to test the fetal insulin hypothesis and identify genetic variants influencing birthweight and early postnatal growth."; "PMID:16466435"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:15f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFSOCH"; . a owl:NamedIndividual, ; , , , , , , , , , ; "GCST90565129"; "A consortium of genome-wide association studies of blood lipid levels that meta-analyses summary statistics from primary studies of several genetic ancestry groups (about 1.65 million individuals from 201 studies in its 2021 round) to find loci for LDL and HDL cholesterol, triglycerides and total cholesterol."; 1654960; "GLGC", "Global Lipid Genetics Consortium", "Global Lipids Genetic Consortium", "GlobalLipids"; ; rdfs:label "Global Lipids Genetics Consortium"@en . _:15fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "EpiHealth | Epidemiology for Health | Sweden | EUR | 2000 | 0.47949999999999998 | 61.32 | Fasting | No | 59.09 | 155.99 | Friedewald | 111.3 | 235.38 | Illumina HumanCoreExome | Minimac | HRC and 1KGP3 | rvtests | https://pubmed.ncbi.nlm.nih.gov/23435790/" . _:15fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "EPOZ | Epidemiologisch Preventief Onderzoek Zoetermeer | Netherlands | EUR | 416" . _:15fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "GRMIC | Greek Recurrent Myocardial Infarction Cohort | Greece | EUR | 173 | 0.82658959537572252 | 60.208791208791197 | Fasting | 22 individuals | 34.693641618497097 | 108.456647398844 | Measured | 149.306358381503 | 172.96531791907501 | Illumina Human Core Exome | Minimac | HRC and 1KGP3 | rvtests" . _:15fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "Hoorn | Hoorn study | Netherlands | EUR | 580" . _:15fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "KSCS | Kangbuk Samsung Cohort Study | South Korea | EAS | 2062" . _:15ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "PARC | the Pharmacogenomics and Risk of Cardiovascular Disease | USA | EUR | 1798 | 0.69911012235817571 | 61.6 | Fasting | No | 42 | 133 | Measured | 177 | 214 | Illumina 300K and 610K | Minimac | HRC | rvtests | https://pubmed.ncbi.nlm.nih.gov/16516587/; https://pubmed.ncbi.nlm.nih.gov/11434828/" . _:16002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "SUVIMAX Supplementation en Vitamines et Mineraux Antioxydants Study 1,813 France 50.1 ± 6.3 62.0 225 ± 32 138 ± 32 63 ± 15 92 ± 47" . _:16012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TCAD (TAICHI)a 2284 23.3 65.8 (11.7) 44.0 (12.5) 112.3 (40.7) 182.6 (42.4) 133.2 (84.7) Yes F F Yes PLINK 17967444" . _:16022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "WHII | Whitehall II | UK | EUR | 3399" . _:16032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "STRIP | Special Turku Coronary Risk Factor Intervention Project - Parents | Finland | EUR | 1043" . _:16042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565129"; "A multi-ancestry genome-wide association study and evaluation of polygenic scores of LDL-C levels."; "PMID:39909172", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39909172+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We replicated 168 previously reported loci from the largest LDL-C GWAS by the Global Lipids Genetics Consortium (GLGC), with high correlation in allele frequencies (R2 = 0.77) and moderate correlation in effect sizes (Beta;" . _:16052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of genome-wide association studies of blood lipid levels that meta-analyses summary statistics from primary studies of several genetic ancestry groups (about 1.65 million individuals from 201 studies in its 2021 round) to find loci for LDL and HDL cholesterol, triglycerides and total cholesterol."; "PMID:34887591"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1654960; "individuals from 201 primary studies in the 2021 multi-ancestry lipid GWAS meta-analysis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8730582/unicode"; rdfs:comment "The Global Lipids Genetics Consortium aggregated GWAS results from 1,654,960 individuals from 201 primary studies representing five genetic ancestry groups: Admixed African or African (AdmAFR, N=99.4k, 6.0% of sample), East Asian (EAS, N=146.5k, 8.9%), European (EUR, N=1.32m, 79.8%), Hispanic (HIS, N=48.1k, 2.9%), and South Asian (SAS, N=41.0k, 2.5%) (Table 1, Supplementary Table 1, Supplementary Figure 1)." . _:16072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5575; , ; , ; "GCST90301397"; "A population-based case-control study of incident colorectal cancer cases and healthy controls recruited in northern Israel from 1998 to 2017, used to study genetic and environmental risk factors for colorectal cancer and the tumour immune microenvironment."; 5581; 4783; 10364; "MECC"; ; rdfs:label "Molecular Epidemiology of Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5575; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "The Molecular Epidemiology of Colorectal Cancer Study (MECC) is a population-based study of incident CRC cases and healthy controls recruited from northern Israel from 1998 to 2017 [45]." . _:16092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "The Molecular Epidemiology of Colorectal Cancer Study (MECC) is a population-based study of incident CRC cases and healthy controls recruited from northern Israel from 1998 to 2017 [45]." . _:160a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301397"; "Germline genetic regulation of the colorectal tumor immune microenvironment."; "PMID:38664626", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "To evaluate the contribution of germline genetics to regulating the briskness and diversity of T cell responses in CRC, we conducted a genome-wide association study to examine the associations between germline genetic variation and quantitative measures of T cell landscapes in 2,876 colorectal tumors from participants in the Molecular Epidemiology of Colorectal Cancer Study (MECC)." . _:160b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of incident colorectal cancer cases and healthy controls recruited in northern Israel from 1998 to 2017, used to study genetic and environmental risk factors for colorectal cancer and the tumour immune microenvironment."; "PMID:38664626"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:160c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5581; "participants genotyped (colorectal cancer cases and controls); a subset of all enrolled"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "DNA samples from 10,364 MECC participants (5,581 CRC cases and 4,783 controls) were genotyped using four platforms." . _:160d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4783; "participants genotyped (colorectal cancer cases and controls); a subset of all enrolled"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "DNA samples from 10,364 MECC participants (5,581 CRC cases and 4,783 controls) were genotyped using four platforms." . _:160e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10364; "participants genotyped (colorectal cancer cases and controls); a subset of all enrolled"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "DNA samples from 10,364 MECC participants (5,581 CRC cases and 4,783 controls) were genotyped using four platforms." . _:160f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MECC"; . a owl:NamedIndividual, ; , ; , , , , ; "GCST90833020"; "A prospective cohort of 116,429 female registered nurses aged 25–42 recruited in 1989 from 14 states of the United States, a younger population than the original Nurses' Health Study, followed by biennial mailed questionnaires and biospecimen collection to study risk factors for major chronic diseases in women."; "The acronym Harvard also denotes Mass General Brigham Biobank (COHO:0000383), Nurses' Health Study (COHO:0000456) and Health Professionals Follow-up Study (COHO:0000527); this term is Nurses' Health Study II."@en; 116429; "Harvard", "NHS II", "NHS2", "NHSII", "NHSII (Nurses' Health Study II, NCI)", "Nurses Health Study II", "Nurses' Health Study 2", "Nurses' Health Study II, NCI"; , ; rdfs:label "Nurses' Health Study II"@en; rdfs:seeAlso . _:16102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12225639/fullTextXML"; rdfs:comment "Aircraft noise exposure and body mass index among female participants in two Nurses’ Health Study prospective cohorts living around 90 airports in the United States" . _:16112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833020"; "Multi ancestry genome wide association meta analysis of urinary aMT6s levels."; "PMID:42020658", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13269534/fullTextXML"; rdfs:comment "To address these limitations, we aggregated data from the Taiwan Biobank (TWB), the Nurses’ Health Study I (NHS1), the Nurses’ Health Study II (NHS2), Osteoporotic Fractures in Men19,20 (MrOS), and the Multiethnic Cohort (MEC)." . _:16122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 116,429 female registered nurses aged 25–42 recruited in 1989 from 14 states of the United States, a younger population than the original Nurses' Health Study, followed by biennial mailed questionnaires and biospecimen collection to study risk factors for major chronic diseases in women."; "PMID:34450027", "PMID:38677085"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 116429; "female registered nurses aged 25-42 recruited in 1989"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12225639/fullTextXML"; rdfs:comment "Started in 1989, NHSII recruited 116,429 female registered nurses ages 25–42 from 14 states with large numbers of registered nurses." . _:16142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Harvard"; . _:16152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS II"; . _:16162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS2"; . _:16172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHSII"; . _:16182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHSII (Nurses' Health Study II, NCI)"; . a owl:NamedIndividual, ; , ; "GCST90014287"; "A sample of healthy controls of European American and African American ancestry recruited at the National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, USA, who did not meet criteria for alcohol dependence or other major psychiatric disorders on the Structured Clinical Interview for DSM-IV and gave blood samples used for genome-wide DNA methylation analysis and genotyping on Illumina OmniExpress arrays."; "NIAAA"; ; rdfs:label "National Institute on Alcohol Abuse and Alcoholism cohort"@en . _:16192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/supplementaryFiles"; rdfs:comment "The sample consisted of 119 European American (EA) and 82 African American (AA) healthy controls that were recruited at the National Institute on Alcohol Abuse and Alcoholism (NIAAA) at the National Institutes of Health (NIH), USA." . _:161a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014287"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/supplementaryFiles"; rdfs:comment "National Institute on Alcohol Abuse and Alcoholism (NIAAA) cohort Cohort description The sample consisted of 119 European American (EA) and 82 African American (AA) healthy controls that were recruited at the National Institute on Alcohol Abuse and Alcoholism (NIAAA) at the National Institutes of Health (NIH), USA." . _:161b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of healthy controls of European American and African American ancestry recruited at the National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, USA, who did not meet criteria for alcohol dependence or other major psychiatric disorders on the Structured Clinical Interview for DSM-IV and gave blood samples used for genome-wide DNA methylation analysis and genotyping on Illumina OmniExpress arrays."; "PMID:34187551"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:161c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIAAA"; . a owl:NamedIndividual, ; , ; , , ; "GCST90832127"; "A prospective cohort of about 85,000 English-speaking adults aged 40–79, predominantly Black and low-income, enrolled in 2002–2009 in 12 states of the southeastern United States, designed to study racial disparities in cancer and other chronic disease outcomes."; 84735; "SCCS", "Southern Community Cohort"; ; rdfs:label "Southern Community Cohort Study"@en . _:161d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12973162/fullTextXML"; rdfs:comment "Briefly, the SCCS enrolled ~85,000 English‐speaking individuals aged 40–79 years during years 2002–2009 in 12 states in the southeastern United States." . _:161e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90832127"; "A Genome-Wide Association Study of Colorectal Cancer Mortality Outcomes Among Individuals of African and Admixture Ancestry."; "PMID:41609390", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12973162/fullTextXML"; rdfs:comment "To accomplish this aim, we utilize data from the Southern Community Cohort Study (SCCS), a cohort with rich multilevel data designed to help address racial disparities in cancer outcomes." . _:161f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of about 85,000 English-speaking adults aged 40–79, predominantly Black and low-income, enrolled in 2002–2009 in 12 states of the southeastern United States, designed to study racial disparities in cancer and other chronic disease outcomes."; "PMID:41609390", "PMID:41909911"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 84735; "adults aged 40-79 enrolled March 2002 to September 2009"; "https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1001830"; rdfs:comment "From March 25, 2002, to September 24, 2009, 84,735 adults aged 40–79 y were enrolled from 12 southeastern states." . _:16212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCCS"; . a owl:NamedIndividual, ; , , ; "GCST90707270"; "A hospital-based cohort of more than 565,000 participants recruited by Academia Sinica with 16 major medical centres across Taiwan, genotyped on arrays optimised for Han Chinese ancestry and linked to retrospective and prospective electronic medical records, for genome-wide, phenome-wide and polygenic risk studies of common disease and pharmacogenetic response."; 565390; "TPMI"; ; rdfs:label "Taiwan Precision Medicine Initiative"@en . _:16222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41092961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we present the Taiwan Precision Medicine Initiative (TPMI), established by Academia Sinica in collaboration with 16 major medical centres around Taiwan, which has recruited 565,390 participants who consent to provide DNA samples for genetic profiling and grant access to their electronic medical records (EMRs) for research." . _:16232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90707270"; "Genetic risk loci for Parkinson's disease and dementia in a large-scale population-based Taiwanese cohort (TPMI)."; "PMID:41810385", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41810385+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we investigated genetic risk factors for PD and PDD in Taiwanese individuals from the Taiwan Precision Medicine Initiative (TPMI), the largest non-European cohort integrating genetic and electronic medical record data." . _:16242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of more than 565,000 participants recruited by Academia Sinica with 16 major medical centres across Taiwan, genotyped on arrays optimised for Han Chinese ancestry and linked to retrospective and prospective electronic medical records, for genome-wide, phenome-wide and polygenic risk studies of common disease and pharmacogenetic response."; "PMID:41092961"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 565390; "participants recruited who consented to DNA genotyping and EMR access"; "PMID:41092961"; rdfs:comment "Here we present the Taiwan Precision Medicine Initiative (TPMI), established by Academia Sinica in collaboration with 16 major medical centres around Taiwan, which has recruited 565,390 participants who consent to provide DNA samples for genetic profiling and grant access to their electronic medical records (EMRs) for research." . _:16262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TPMI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5607; , ; , ; "GCST90134637"; "A longitudinal family-based cohort of highly admixed residents of Baependi, a small rural town in Minas Gerais, Brazil, recruited from 2005 through probands and their relatives and followed up in 2010 and 2016 to study genetic and environmental influences on cardiovascular risk factors, sleep, circadian rhythms and mental health."; "The acronym BHS also denotes Busselton Health Study (COHO:0000389) and Bogalusa Heart Study (COHO:0000464); this term is Baependi Heart Study."@en; 2239; "BAEPENDI", "BHS", "Baependi"; ; rdfs:label "Baependi Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5607 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5607; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27797990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Baependi Heart Study was set up in 2005 to develop a longitudinal family-based cohort study that reflects on some of the genetic and lifestyle-related peculiarities of the Brazilian populations, in order to evaluate genetic and environmental influences on CVD risk factor traits." . _:16282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27797990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Probands were recruited in Baependi, a small rural town in the state of Minas Gerais, Brazil, following by first-degree and then increasingly more distant relatives." . _:16292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134637"; "Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency."; "PMID:36267918", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9576575/fullTextXML"; rdfs:comment "The Baependi Heart Study was set up in 2005 to develop a longitudinal family-based cohort study that reflects on some of the genetic and lifestyle-related peculiarities of the Brazilian populations, in order to evaluate genetic and environmental influences on CVD risk factor traits (Egan et al., 2016)." . _:162a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal family-based cohort of highly admixed residents of Baependi, a small rural town in Minas Gerais, Brazil, recruited from 2005 through probands and their relatives and followed up in 2010 and 2016 to study genetic and environmental influences on cardiovascular risk factors, sleep, circadian rhythms and mental health."; "PMID:27797990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:162b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2239; "participants with cross-sectional data (1691 at 2005 baseline plus 548 added in 2010), 2016"; "PMID:27797990"; rdfs:comment "Cross-sectional data have been collected for 2239 participants." . _:162c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAEPENDI"; . _:162d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHS"; . _:162e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Baependi"; . a owl:NamedIndividual, ; , , ; "GCST90454465"; "A prospective birth cohort of pregnant women living in Guangzhou, China, recruited in early pregnancy at Guangzhou Women and Children's Medical Center from 2012, with biological samples from mothers, fathers and infants and planned follow-up of the children to age 18 years, to study social, biological and environmental influences on pregnancy and child health and development."; 17050; "BIGCS"; ; rdfs:label "Born in Guangzhou Cohort Study"@en . _:162f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28321694+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Born in Guangzhou Cohort Study (BIGCS) is a large-scale prospective observational study investigating the role of social, biological and environmental influences on pregnancy and child health and development in an urban setting in southern China." . _:16302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454465"; "The Born in Guangzhou Cohort Study enables generational genetic discoveries."; "PMID:38297123", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38297123+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we present the phase I genome study of the Born in Guangzhou Cohort Study2 (BIGCS), which encompasses the sequencing and analysis of 4,053 Chinese individuals, primarily composed of trios or mother-infant duos residing in South China." . _:16312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of pregnant women living in Guangzhou, China, recruited in early pregnancy at Guangzhou Women and Children's Medical Center from 2012, with biological samples from mothers, fathers and infants and planned follow-up of the children to age 18 years, to study social, biological and environmental influences on pregnancy and child health and development."; "PMID:28321694"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17050; "pregnant women consenting (17,214 pregnancies) by April 2016; recruitment ongoing"; "https://doi.org/10.1007/s10654-017-0239-x"; rdfs:comment "By April 2016, we had approached 22,569 eligible pregnancies, of which 17,214 (from 17,050 women) provided consent (participation rate 76.3%)." . _:16332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIGCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5621; , ; "GCST90034520"; "A cohort of about 190 white Dutch sibling pairs aged 40–70 with symptomatic osteoarthritis at multiple joint sites, recruited from rheumatology, orthopaedic and general practice clinics around Leiden, the Netherlands, by Leiden University Medical Center to identify determinants of osteoarthritis susceptibility and progression."; 384; "GARP", "GARP study", "Genetic ARthrosis and Progression study", "Genetics OsteoArthritis and Progression", "Genetics osteoARthritis and Progression", "Genetics, Arthrosis and Progression study", "Genetics, Arthrosis, and Progression"; ; rdfs:label "Genetics, Osteoarthritis and Progression Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5621 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5621; "osteoarthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "The GARP study is a prospective observational study in patients with familial generalized osteoarthritis, hand osteoarthritis and other osteoarthritis phenotypes." . _:16352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3198737/fullTextXML"; rdfs:comment "Patients were recruited from the rheumatologic, orthopedic and general practice clinics around Leiden, The Netherlands." . _:16362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90034520"; "Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations."; "PMID:34450027", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8459317/fullTextXML"; rdfs:comment "The GARP study is a prospective observational study in patients with familial generalized osteoarthritis, hand osteoarthritis and other osteoarthritis phenotypes." . _:16372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 190 white Dutch sibling pairs aged 40–70 with symptomatic osteoarthritis at multiple joint sites, recruited from rheumatology, orthopaedic and general practice clinics around Leiden, the Netherlands, by Leiden University Medical Center to identify determinants of osteoarthritis susceptibility and progression."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3198737/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 384; "patients in 192 Caucasian sibling pairs included at baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3198737/fullTextXML"; rdfs:comment "In this cohort, 192 Caucasian sib-pairs (384 patients), aged 40 to 70 years were included." . _:16392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARP"; . a owl:NamedIndividual, ; , ; , ; "GCST90321087", "PGS000734"; "A cohort of US male physicians enrolled in two randomized, double-blind, placebo-controlled trials, PHS I (begun in 1982 with physicians aged 40–84) and PHS II, testing low-dose aspirin, beta-carotene and vitamins for the primary prevention of cardiovascular disease and cancer, and followed thereafter as a prospective cohort."; 22071; "NPHS", "National Physicians Health Study", "National Physicians' Health Study", "PHS", "Physicians Health Study"; , ; rdfs:label "Physicians' Health Study"@en . _:163a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11171146/fullTextXML"; rdfs:comment "PHS I was initiated in 1982 and was a randomized, double-blind, placebo-controlled trial of 22,071 US male physicians aged 40–84 years aimed at evaluating the impact of aspirin and beta-carotene on cardiovascular disease (CVD) and cancer outcomes, respectively [22]." . _:163b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90321087"; "Germline Genetic Variants Associated with Somatic TMPRSS2:ERG Fusion Status in Prostate Cancer: A Genome-Wide Association Study."; "PMID:37555839", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37555839+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "However, few studies have investigated germline genetic variants associating with TMPRSS2:ERG fusion status.MethodsWe performed a genome-wide association study with 396 TMPRSS2:ERG(+) cases, 390 TMPRSS2:ERG(-) cases, and 2,386 cancer-free controls from the Physicians' Health Study (PHS), the Health Professionals Follow-up Study (HPFS), and a Seattle-based Fred Hutchinson (FH) Cancer Center Prostate Cancer Study." . _:163c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:163d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of US male physicians enrolled in two randomized, double-blind, placebo-controlled trials, PHS I (begun in 1982 with physicians aged 40–84) and PHS II, testing low-dose aspirin, beta-carotene and vitamins for the primary prevention of cardiovascular disease and cancer, and followed thereafter as a prospective cohort."; "PMID:38893188"; "GPT-6 (OpenAI), 2026-09" . _:163e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22071; "US male physicians randomised in PHS I (1982) only; no combined PHS I and II total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11171146/fullTextXML"; rdfs:comment "PHS I was initiated in 1982 and was a randomized, double-blind, placebo-controlled trial of 22,071 US male physicians aged 40–84 years aimed at evaluating the impact of aspirin and beta-carotene on cardiovascular disease (CVD) and cancer outcomes, respectively [22]." . _:163f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPHS"; . _:16402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHS"; . a owl:NamedIndividual, ; , ; "GCST90255680"; "A cohort of about 2,000 healthy, unrelated young adults of Irish ancestry aged 18–28, recruited at Trinity College Dublin, Ireland, in 2003–2004, with plasma and serum samples and genotypes used to study genetic influences on circulating metabolites."; "The acronym TSS also denotes US Cystic Fibrosis Twin and Sibling Study (COHO:0001158); this term is Trinity Student Study."@en; 2508; "TSS"; ; rdfs:label "Trinity Student Study"@en . _:16412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9644178/fullTextXML"; rdfs:comment "Samples were collected as part of the Trinity Student Study (TSS), in which a cohort of healthy young adults (aged 18–28 y) were recruited at Trinity College Dublin over a 1-y period (2003–2004), as described previously (36–38)." . _:16422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255680"; "Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans."; "PMID:36774100", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9644178/fullTextXML"; rdfs:comment "Samples were collected as part of the Trinity Student Study (TSS), in which a cohort of healthy young adults (aged 18–28 y) were recruited at Trinity College Dublin over a 1-y period (2003–2004), as described previously (36–38)." . _:16432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 2,000 healthy, unrelated young adults of Irish ancestry aged 18–28, recruited at Trinity College Dublin, Ireland, in 2003–2004, with plasma and serum samples and genotypes used to study genetic influences on circulating metabolites."; "PMID:36774100"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2508; "eligible young adults who consented and completed the questionnaire, 2003-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9644178/fullTextXML"; rdfs:comment "Briefly, 2508 individuals were eligible to participate, gave written informed consent, and completed a questionnaire including parameters of age, sex, height, weight, dietary habits (meat eating, vegetarian, or vegan), micronutrient intake from supplements and fortified foods, usual alcohol intake, smoking status, and contraceptive use among female participants." . _:16452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5640, _:genid-371333f489424440b12a13b9d98ced822608-genid5642, _:genid-371333f489424440b12a13b9d98ced822608-genid5644; , ; ; "GCST90026484"; "A sample of more than 11,000 African American and European American participants recruited through treatment centres and advertisements at sites including Yale University, the University of Pennsylvania, McLean Hospital and the Medical University of South Carolina for genetic studies of cocaine, opioid and alcohol dependence, genotyped in three waves (Yale-Penn 1–3)."; 11439; "ADGE", "Alcohol Dependence GWAS in European- and African Americans", "Genetics of Substance Dependence Yale Penn", "Yale-Penn", "Yale-Penn sample"; ; rdfs:label "Yale-Penn study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5640 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5642 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5644 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5640; "cocaine dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257618/fullTextXML"; rdfs:comment "The discovery sample was derived from the Yale-Penn sample, a cohort of 11,439 participants (5758 AAs and 5681 EAs) recruited through treatment centers and advertisements for genetic studies of cocaine, opioid or alcohol dependence11." . _:16472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5642; "opioid dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257618/fullTextXML"; rdfs:comment "The discovery sample was derived from the Yale-Penn sample, a cohort of 11,439 participants (5758 AAs and 5681 EAs) recruited through treatment centers and advertisements for genetic studies of cocaine, opioid or alcohol dependence11." . _:16482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5644; "alcohol dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257618/fullTextXML"; rdfs:comment "The discovery sample was derived from the Yale-Penn sample, a cohort of 11,439 participants (5758 AAs and 5681 EAs) recruited through treatment centers and advertisements for genetic studies of cocaine, opioid or alcohol dependence11." . _:16492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6336846/fullTextXML"; rdfs:comment "Participants for the discovery GWAS in this study were recruited from five sites in the eastern United States, for studies of the genetics of drug or alcohol dependence - the Yale-Penn study10–13." . _:164a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026484"; "Genome-wide association study of stimulant dependence."; "PMID:34226506", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257618/fullTextXML"; rdfs:comment "The discovery sample was derived from the Yale-Penn sample, a cohort of 11,439 participants (5758 AAs and 5681 EAs) recruited through treatment centers and advertisements for genetic studies of cocaine, opioid or alcohol dependence11." . _:164b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of more than 11,000 African American and European American participants recruited through treatment centres and advertisements at sites including Yale University, the University of Pennsylvania, McLean Hospital and the Medical University of South Carolina for genetic studies of cocaine, opioid and alcohol dependence, genotyped in three waves (Yale-Penn 1–3)."; "PMID:30655502", "PMID:34226506"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:164c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11439; "participants recruited (5758 African American, 5681 European American)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257618/fullTextXML"; rdfs:comment "The discovery sample was derived from the Yale-Penn sample, a cohort of 11,439 participants (5758 AAs and 5681 EAs) recruited through treatment centers and advertisements for genetic studies of cocaine, opioid or alcohol dependence11." . _:164d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADGE"; . _:164e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Yale-Penn"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5652; ; , , ; ; "GCST90446493", "PGS003336"; "A population-based cohort of about 28,000 men and women aged 40 and over living in rural areas of South Korea, recruited in 2004–2011 as part of the Korean Genome and Epidemiology Study, with follow-up surveys in some counties, to study cardiovascular and other chronic diseases and their genetic and environmental risk factors."; 28338; "CAVAS", "KoGES Cardiovascular Disease Association", "KoGES_CAVAS", "KoGES_cardiovascular disease association study", "RURAL", "RURAL cohort", "Rural", "Rural cohort"; , ; rdfs:label "Cardiovascular Disease Association Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5652 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:164f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5652; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11181046/fullTextXML"; rdfs:comment "The CAVAS cohort had participants from rural areas to investigate cardiovascular diseases." . _:16502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13180620/fullTextXML"; rdfs:comment "The CAVAS cohort included 28,337 participants aged 40–69 years residing in rural areas of Korea, recruited between 2005 and 2011." . _:16512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446493"; "Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants."; "PMID:37919891", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11181046/fullTextXML"; rdfs:comment "The cohort comprised three sub-cohorts, namely the Korean Association Resource (KARE), Health Examinee (HEXA), and Cardiovascular Disease Association Study (CAVAS)." . _:16522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003336"; "The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians."; "PMID:36333282" . _:16532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 28,000 men and women aged 40 and over living in rural areas of South Korea, recruited in 2004–2011 as part of the Korean Genome and Epidemiology Study, with follow-up surveys in some counties, to study cardiovascular and other chronic diseases and their genetic and environmental risk factors."; "PMID:27085081", "PMID:40405233", "PMID:42158258"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 28338; "participants enrolled at baseline, 2005-2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5837648/"; rdfs:comment "KoGES_CAVAS (n = 28338)" . _:16552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAVAS"; . _:16562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KoGES_CAVAS"; . _:16572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RURAL"; . _:16582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rural"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5663, _:genid-371333f489424440b12a13b9d98ced822608-genid5665; , , ; ; "GCST90002231"; "A household-based cohort of individuals, households and communities in provinces across China, surveyed repeatedly since 1989 with all household members studied and in-depth community data collected, to understand how social and economic change in China affects nutrition and health outcomes."; 27447; "CHNS"; ; rdfs:label "China Health and Nutrition Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5663 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5665 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5663; "diet"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3869031/unicode"; rdfs:comment "The CHNS was designed to provide representation of rural, urban, and suburban areas varying substantially in geography, economic development, public resources, and health indicators with a focus on examining household- and individual-level sociodemographic factors, diet, physical activity, health, and behavior changes relative to community-level urbanicity and social, and economic change." . _:165a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5665; "physical activity"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3869031/unicode"; rdfs:comment "The CHNS was designed to provide representation of rural, urban, and suburban areas varying substantially in geography, economic development, public resources, and health indicators with a focus on examining household- and individual-level sociodemographic factors, diet, physical activity, health, and behavior changes relative to community-level urbanicity and social, and economic change." . _:165b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24341753+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The China Health and Nutrition Survey (CHNS) began in 1989 with the goal of creating a multilevel method of data collection from individuals and households and their communities to understand how the wide-ranging social and economic changes in China affect a wide array of nutrition and health-related outcomes." . _:165c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002231"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/fullTextXML"; rdfs:comment "Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey." . _:165d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A household-based cohort of individuals, households and communities in provinces across China, surveyed repeatedly since 1989 with all household members studied and in-depth community data collected, to understand how social and economic change in China affects nutrition and health outcomes."; "PMID:24341753"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:165e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27447; "individuals in the 2011 survey wave (5,884 households, 288 communities)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3869031/"; rdfs:comment "By the last survey in 2011 the CHNS included at the primary sampling unit (province/autonomous city) 12 sample units and at the secondary sampling unit (community) 288 communities with 27,447 individuals from 5,884 households, including 60 urban neighborhoods, 60 suburban neighborhoods, 42 towns, and 126 villages." . _:165f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHNS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5672; , ; ; "GCST90654631"; "A cohort of about 300 overweight or obese adults (BMI of 27 kg/m2 or more) aged 54–81 of Western European ancestry, enrolled at Radboud University Medical Center in Nijmegen, the Netherlands, within the Human Functional Genomics Project to discover pathways, including inflammation and immune responses, that contribute to cardiovascular disease in overweight and obese people."; 302; "300 Obesity cohort", "300-OB", "300-Obese cohort", "300OB", "300OB cohort", "300_Obese cohort"; ; rdfs:label "300-Obese"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5672 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5672; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320834/fullTextXML"; rdfs:comment "The 300-Obese (300-OB) cohort, one of the studies of the Human Functional Genomics Project, comprises a group of more than 300 individuals of Western-European ancestry with a body mass index (BMI) greater than or equal to greater than or equal to 27 kg/m2, aged between 55 and 80 years (12)." . _:16612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9753387/fullTextXML"; rdfs:comment "300OB is an obese cohort of 302 individuals aged 54–81 years old, who were enrolled in the study at the Radboud University Medical Center, Nijmegen, the Netherlands." . _:16622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90654631"; "Unraveling interindividual variation of trimethylamine N-oxide and its precursors at the population level."; "PMID:38898991", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11183189/fullTextXML"; rdfs:comment "The study population included participants from Rotterdam Study I‐4 (RSI‐4), Rotterdam Study III‐2 (RSIII‐2), Leiden Longevity Study (LLS), LifeLines‐DEEP (LLD), and 300‐Obese cohort (300‐OB)." . _:16632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 300 overweight or obese adults (BMI of 27 kg/m2 or more) aged 54–81 of Western European ancestry, enrolled at Radboud University Medical Center in Nijmegen, the Netherlands, within the Human Functional Genomics Project to discover pathways, including inflammation and immune responses, that contribute to cardiovascular disease in overweight and obese people."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320834/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9753387/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 302; "overweight or obese adults enrolled (BMI 27 or more)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320834/fullTextXML"; rdfs:comment "A total of 302 individuals with a body mass index greater than or equal to 27 kg/m2 participated." . _:16652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "300-OB"; . _:16662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "300OB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5680; , , , , , , , ; "GCST90841377"; "A phase 3 clinical prevention trial that screened cognitively unimpaired adults aged 65–85 with amyloid PET at 67 sites in Australia, Canada, Japan and the USA from 2014 to 2017 and tested, in those with elevated brain amyloid, whether the anti-amyloid antibody solanezumab slows cognitive decline in preclinical Alzheimer's disease."; 1169; "A4", "A4 Study", "Anti-Amyloid Treatment in Asymptomatic Alzheimer Disease Study", "Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease"; ; rdfs:label "Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5680 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5680; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12825300/fullTextXML"; rdfs:comment "The A4 Study was a secondary prevention trial in preclinical Alzheimer’s disease, aiming to slow cognitive decline associated with brain amyloid accumulation in clinically normal older individuals." . _:16682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12825300/fullTextXML"; rdfs:comment "Participants were screened for the A4 study from 67 sites across Australia, Canada, Japan and the USA between April 2014 to December 2017." . _:16692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841377"; "Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease."; "PMID:37101235", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134547/fullTextXML"; rdfs:comment "These subjects were recruited from the Memory and Aging Project (MAP) at the Knight Alzheimer Disease Research Center (Knight-ADRC) [16, 17], Alzheimer's Disease Neuroimaging Initiative (ADNI) [18], the Dominantly Inherited Alzheimer Network (DIAN) [19], Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease (A4) [20], ADNI Department of Defense (ADNIDOD) studies, Australian Imaging, Biomarkers and Lifestyle (AIBL) [21], The Harvard Aging Brain Study (HABS) [22], and University of Pittsburgh (UPitt) [23]." . _:166a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A phase 3 clinical prevention trial that screened cognitively unimpaired adults aged 65–85 with amyloid PET at 67 sites in Australia, Canada, Japan and the USA from 2014 to 2017 and tested, in those with elevated brain amyloid, whether the anti-amyloid antibody solanezumab slows cognitive decline in preclinical Alzheimer's disease."; "PMID:41569280"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:166b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1169; "participants randomised (578 solanezumab, 591 placebo)"; "PMID:37458272"; rdfs:comment "A total of 1169 persons underwent randomization: 578 were assigned to the solanezumab group and 591 to the placebo group." . _:166c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A4"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5687; , ; ; "GCST90642411"; "An ongoing longitudinal study of all twins born in Sweden since July 1992, whose parents are interviewed about the children's somatic and mental health and social environment at age 9 or 12, with follow-up questionnaires at ages 15 and 18 and clinical assessments at 15 of screen-positive twin pairs and controls, to study the aetiology of childhood mental health problems and their role in later adjustment."; 32952; "CATSS"; ; rdfs:label "Child and Adolescent Twin Study in Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5687 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:166d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5687; "childhood mental health problems"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22506305+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The CATSS study has the potential of answering important questions on the etiology of childhood mental health problems and their role in the development of later adjustment problems." . _:166e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22506305+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targeting all twins born in Sweden since July 1, 1992." . _:166f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13580976/fullTextXML"; rdfs:comment "Since 2004, the Swedish Twin Registry has invited parents of twins to participate in CATSS, contacting them at age 9 years in most years and at age 12 years during the first 3 years of data collection." . _:16702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90642411"; "Genetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes."; "PMID:40494901", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12367547/fullTextXML"; rdfs:comment "For the Swedish Twin Registry’s Child and Adolescent Twin Study in Sweden, E.A. performed the data analysis, P.L. was the principal investigator and R.K., M.T., S.L. and H.L. collected and prepared the data." . _:16712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing longitudinal study of all twins born in Sweden since July 1992, whose parents are interviewed about the children's somatic and mental health and social environment at age 9 or 12, with follow-up questionnaires at ages 15 and 18 and clinical assessments at 15 of screen-positive twin pairs and controls, to study the aetiology of childhood mental health problems and their role in later adjustment."; "PMID:22506305"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32952; "twins whose parents completed the age 9/12 interview (2019)"; "https://doi.org/10.1017/thg.2019.99"; rdfs:comment "By May 2019, 16,476 parental interviews concerning 32,952 twins had been completed, with an overall response rate of 69%." . _:16732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CATSS"; . a owl:NamedIndividual, ; , ; , , ; "GCST90504004"; "A community-based prospective cohort of 32,894 mostly White adults in Washington County, Maryland, USA, who gave blood samples, blood pressure readings and brief medical histories during a 1989 campaign against cancer and heart disease run from the Johns Hopkins George W. Comstock Center, followed through cancer-registry linkage to study risk factors for cancer and heart disease."; 32894; "CLUE", "CLUE II Cohort Study", "CLUE II cohort", "CLUEII", "Campaign against Cancer and Heart Disease II", "Give Us a Clue to Cancer and Heart Disease", "Give Us a Clue to Cancer and Heart Disease Study", "Give Us a Clue to Cancer and Heart Disease Study II"; ; rdfs:label "CLUE II"@en . _:16742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3241297/fullTextXML"; rdfs:comment "In 1989, a local campaign against cancer and heart disease named CLUE II was conducted in Washington County, Maryland." . _:16752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "We thank the participants of Clue II and appreciate the continued efforts of the staff at the Johns Hopkins George W." . _:16762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort of 32,894 mostly White adults in Washington County, Maryland, USA, who gave blood samples, blood pressure readings and brief medical histories during a 1989 campaign against cancer and heart disease run from the Johns Hopkins George W. Comstock Center, followed through cancer-registry linkage to study risk factors for cancer and heart disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3241297/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9970317/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32894; "participants at the 1989 baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9970317/fullTextXML"; rdfs:comment "At the baseline visit (1989 for CLUE II), brief medical histories, blood pressure readings, and blood samples were collected on 32,894 participants (25,076 of which were residents of Washington County)." . _:16782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLUE"; . _:16792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLUEII"; . a owl:NamedIndividual, ; , ; "GCST90000059"; "A family cohort of about 2,000 white European adults from 520 nuclear families (both parents aged 40–60 and two adult offspring), identified through general practices in Leicestershire, UK, and recruited in 2002–2005 to study the genetic regulation of blood pressure and related cardiovascular traits."; 2024; "GRAPHIC", "GRAPHIC Study", "Genetic Regulation of Arterial Pressure in Humans in the Community"; ; rdfs:label "Genetic Regulation of Arterial Pressure in Humans in the Community Study"@en . _:167a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5144126/fullTextXML"; rdfs:comment "Briefly, nuclear families (all of white European ancestry) with both parents (aged 40–60 years) and two adult (⩾18 years) offspring were identified through general practices in Leicestershire, UK, and invited to participate through an invitation letter sent through the mother." . _:167b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000059"; "Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals."; "PMID:33230300", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610439/supplementaryFiles"; rdfs:comment "GRAPHIC Genetic Regulation of Arterial Pressure in Humans In the Community Three clinic blood pressure measurments using an Omron HEM-705CP digital BP monitor." . _:167c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family cohort of about 2,000 white European adults from 520 nuclear families (both parents aged 40–60 and two adult offspring), identified through general practices in Leicestershire, UK, and recruited in 2002–2005 to study the genetic regulation of blood pressure and related cardiovascular traits."; "PMID:24391740", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5144126/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:167d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2024; "adults recruited from 520 nuclear families"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5144126/fullTextXML"; rdfs:comment "Of the 2024 individuals from 520 nuclear families recruited in GRAPHIC, individuals who were receiving anti-hypertensive medications (n=135) were excluded from the current analysis to avoid any confounding caused by modulation of diurnal variation in BP by drugs." . _:167e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRAPHIC"; . a owl:NamedIndividual, ; , ; "GCST90992794"; "A population-based cohort of 1982 adults aged 65 and over from southwestern Pennsylvania, USA, recruited by age-stratified random sampling from electoral rolls and followed with longitudinal cognitive assessments to study cognitive decline and dementia."; 1982; "MYHAT", "MYHAT study", "The Monongahela-Youghiogheny Healthy Aging Team"; ; rdfs:label "Monongahela-Youghiogheny Healthy Aging Team"@en . _:167f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "MYHAT is an ongoing population‐based study that recruited 1982 individuals aged ≥ 65 from southwestern Pennsylvania by age‐stratified random sampling from electoral rolls." . _:16802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90992794"; "Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults."; "PMID:40042063", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "The study included 3021 participants (1476 male and 1545 female) from three cohorts with longitudinal cognitive assessment: the Gingko Evaluation of Memory (GEM) study, the Monongahela‐Youghiogheny Healthy Aging Team (MYHAT), and the Monongahela Valley Independent Elders Survey (MoVIES)." . _:16812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 1982 adults aged 65 and over from southwestern Pennsylvania, USA, recruited by age-stratified random sampling from electoral rolls and followed with longitudinal cognitive assessments to study cognitive decline and dementia."; "PMID:40042063"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1982; "adults aged 65 and over recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "MYHAT is an ongoing population‐based study that recruited 1982 individuals aged ≥ 65 from southwestern Pennsylvania by age‐stratified random sampling from electoral rolls." . _:16832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYHAT"; . a owl:NamedIndividual, ; , ; , ; "GCST90011785"; "A collection of DNA samples and lymphoblastoid cell lines from Utah residents with ancestry from northern and western Europe, originally collected by the Centre d'Etude du Polymorphisme Humain (CEPH), that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; 90; "CEPH HapMap", "CEPH Utah residents with ancestry from northern and western Europe", "CEU", "Hap Map CEU", "HapMap CEU"; ; rdfs:label "Utah residents (CEPH) with Northern and Western European ancestry"@en . _:16842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "These included all HapMap Phase I and II samples, along with further samples from the same four populations: individuals from the Centre d’Etude du Polymorphisme Humain collected in Utah, USA, with ancestry from northern and western Europe (CEU);" . _:16852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3042601/unicode"; rdfs:comment "Low coverage project: whole genome shotgun sequencing at low coverage (2-6x) of 59 unrelated individuals from YRI, 60 unrelated individuals from CEU, 30 unrelated Han Chinese individuals in Beijing (CHB) and 30 unrelated Japanese individuals in Tokyo (JPT)." . _:16862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "These included all HapMap Phase I and II samples, along with further samples from the same four populations: individuals from the Centre d’Etude du Polymorphisme Humain collected in Utah, USA, with ancestry from northern and western Europe (CEU);" . _:16872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011785"; "Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations."; "PMID:33575800", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8248963/"; rdfs:comment "The LCLs were derived from individuals from the Yoruba population in Ibadan, Nigeria (YRI), individuals with European ancestries from Utah, USA (CEU) and individuals from a combined population of Han Chinese from Beijing, China, and Japanese from Tokyo, Japan (ASN)." . _:16882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples and lymphoblastoid cell lines from Utah residents with ancestry from northern and western Europe, originally collected by the Centre d'Etude du Polymorphisme Humain (CEPH), that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; "PMID:20811451"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 90; "individuals in 30 parent-offspring trios (HapMap Phase I), 2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1880871/"; rdfs:comment "The specific samples examined are: (1) 90 individuals (30 parent–offspring trios) from the Yoruba in Ibadan, Nigeria (abbreviation YRI); (2) 90 individuals (30 trios) in Utah, USA, from the Centre d’Etude du Polymorphisme Humain collection (abbreviation CEU); (3) 45 Han Chinese in Beijing, China (abbreviation CHB); (4) 44 Japanese in Tokyo, Japan (abbreviation JPT)." . _:168a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEU"; . a owl:NamedIndividual, ; , , ; , ; "GCST90011793"; "A collection of DNA samples and lymphoblastoid cell lines from Yoruba people in Ibadan, Nigeria, including parent–child trios, that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; 90; "HapMap YRI", "YRI", "Yoruba"; ; rdfs:label "Yoruba in Ibadan, Nigeria"@en . _:168b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "Japanese in Tokyo, Japan (JPT); and Yoruba in Ibadan, Nigeria (YRI)." . _:168c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3042601/unicode"; rdfs:comment "Low coverage project: whole genome shotgun sequencing at low coverage (2-6x) of 59 unrelated individuals from YRI, 60 unrelated individuals from CEU, 30 unrelated Han Chinese individuals in Beijing (CHB) and 30 unrelated Japanese individuals in Tokyo (JPT)." . _:168d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "Japanese in Tokyo, Japan (JPT); and Yoruba in Ibadan, Nigeria (YRI)." . _:168e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011793"; "Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations."; "PMID:33575800", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8248963/"; rdfs:comment "The LCLs were derived from individuals from the Yoruba population in Ibadan, Nigeria (YRI), individuals with European ancestries from Utah, USA (CEU) and individuals from a combined population of Han Chinese from Beijing, China, and Japanese from Tokyo, Japan (ASN)." . _:168f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples and lymphoblastoid cell lines from Yoruba people in Ibadan, Nigeria, including parent–child trios, that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; "PMID:20811451"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 90; "individuals in 30 parent-offspring trios (HapMap Phase I), 2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1880871/"; rdfs:comment "The specific samples examined are: (1) 90 individuals (30 parent–offspring trios) from the Yoruba in Ibadan, Nigeria (abbreviation YRI); (2) 90 individuals (30 trios) in Utah, USA, from the Centre d’Etude du Polymorphisme Humain collection (abbreviation CEU); (3) 45 Han Chinese in Beijing, China (abbreviation CHB); (4) 44 Japanese in Tokyo, Japan (abbreviation JPT)." . _:16912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YRI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5725, _:genid-371333f489424440b12a13b9d98ced822608-genid5727, _:genid-371333f489424440b12a13b9d98ced822608-genid5729, _:genid-371333f489424440b12a13b9d98ced822608-genid5731, _:genid-371333f489424440b12a13b9d98ced822608-genid5733, _:genid-371333f489424440b12a13b9d98ced822608-genid5735, _:genid-371333f489424440b12a13b9d98ced822608-genid5737, _:genid-371333f489424440b12a13b9d98ced822608-genid5739; , ; ; "GCST90797639"; "A single-centre Danish prospective clinical birth cohort (COPSAC2000) of 411 children born in 1998–2001 to mothers with asthma, enrolled at 1 month of age and followed closely at the COPSAC clinical research unit in Copenhagen through childhood and to age 18 to study genetic, environmental and lifestyle risk factors for asthma, atopic dermatitis, allergy and other chronic inflammatory disorders."; "The acronym COPSAC also denotes Copenhagen Prospective Studies on Asthma in Childhood (COHO:0000944); this term is Copenhagen Prospective Study on Asthma in Childhood."@en; 411; "COPSAC", "COPSAC2000", "Copenhagen Study on Asthma in Childhood"; ; rdfs:label "Copenhagen Prospective Study on Asthma in Childhood"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5725 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5727 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5729 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5733 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5735 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5737 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5739 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5725; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Copenhagen Prospective Study on Asthma in Childhood is a single-center, birth cohort study of children of asthmatic mothers." . _:16932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5727; "atopic dermatitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Copenhagen Prospective Study on Asthma in Childhood is a single-center, birth cohort study of children of asthmatic mothers." . _:16942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5729; "allergy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Copenhagen Prospective Study on Asthma in Childhood is a single-center, birth cohort study of children of asthmatic mothers." . _:16952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5731; "allergic rhinitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Copenhagen Prospective Study on Asthma in Childhood is a single-center, birth cohort study of children of asthmatic mothers." . _:16962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5733; "allergens"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Exposure assessments comprise respiratory, intestinal, and skin microbiology; the child's diet; indoor and outdoor air quality; allergens; and indicators of lifestyle." . _:16972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5735; "indicators of lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Exposure assessments comprise respiratory, intestinal, and skin microbiology; the child's diet; indoor and outdoor air quality; allergens; and indicators of lifestyle." . _:16982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5737; "the child's diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Exposure assessments comprise respiratory, intestinal, and skin microbiology; the child's diet; indoor and outdoor air quality; allergens; and indicators of lifestyle." . _:16992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5739; "indoor and outdoor air quality"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15521375+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Exposure assessments comprise respiratory, intestinal, and skin microbiology; the child's diet; indoor and outdoor air quality; allergens; and indicators of lifestyle." . _:169a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39214547+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "COPSAC2000 is a Danish prospective clinical birth cohort study of 411 children born to mothers with asthma who were enrolled at 1 month of age and closely followed at the COPSAC clinical research unit through childhood for the development of atopic diseases." . _:169b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/fullTextXML"; rdfs:comment "COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, Ledreborg Alle 34, 2820 Gentofte, Copenhagen, Denmark" . _:169c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre Danish prospective clinical birth cohort (COPSAC2000) of 411 children born in 1998–2001 to mothers with asthma, enrolled at 1 month of age and followed closely at the COPSAC clinical research unit in Copenhagen through childhood and to age 18 to study genetic, environmental and lifestyle risk factors for asthma, atopic dermatitis, allergy and other chronic inflammatory disorders."; "PMID:15521375", "PMID:39214547"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:169d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 411; "children enrolled in the COPSAC2000 birth cohort"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11367328/fullTextXML"; rdfs:comment "The COPSAC2000 is a single-centre clinical, prospective, mother–child cohort study of 411 individuals born to mothers with asthma who were recruited during pregnancy from the Danish National Birth Cohort (DNBC)." . _:169e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPSAC"; . _:169f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPSAC2000"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5747, _:genid-371333f489424440b12a13b9d98ced822608-genid5749; , ; "GCST90027158"; "A Norwegian multi-centre network of clinical sites that pools Alzheimer's disease dementia and mild cognitive impairment cases from memory-clinic and other studies (among them NorCog, DemVest, the AHUS study, HUNT dementia studies, TrønderBrain and DDI), examined with standardized cognitive, functional and behavioural measures and followed for progression, together with cognitively normal and population controls, for genetic studies of Alzheimer's disease and dementia."; 2893; 1660; 4553; "DemGene", "DemGene Project", "DemGene Study", "Norwegian DemGene network"; ; rdfs:label "DemGene network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5747 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5749 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5747; "Mild Cognitive Impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30591712+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study (GWAS) of AD cases and controls of European descent from the multi-center DemGene network across Norway and two independent European cohorts." . _:16a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5749; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30591712+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study (GWAS) of AD cases and controls of European descent from the multi-center DemGene network across Norway and two independent European cohorts." . _:16a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30591712+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study (GWAS) of AD cases and controls of European descent from the multi-center DemGene network across Norway and two independent European cohorts." . _:16a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027158"; "New insights into the genetic etiology of Alzheimer's disease and related dementias."; "PMID:35379992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005347/fullTextXML"; rdfs:comment "All of our stage I meta-analysis samples came from the following consortia/datasets: EADB, GR@ACE, EADI, GERAD/PERADES, DemGene, Bonn, the Rotterdam study, the CCHS study, NxC and the UKBB." . _:16a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Norwegian multi-centre network of clinical sites that pools Alzheimer's disease dementia and mild cognitive impairment cases from memory-clinic and other studies (among them NorCog, DemVest, the AHUS study, HUNT dementia studies, TrønderBrain and DDI), examined with standardized cognitive, functional and behavioural measures and followed for progression, together with cognitively normal and population controls, for genetic studies of Alzheimer's disease and dementia."; "PMID:30591712"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2893; "cases (AD dementia and MCI) and healthy controls genotyped in the network's 2019 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6308232/fullTextXML"; rdfs:comment "We collected genotype data from the Norwegian DemGene network consisting of 2,893 cases and 1,660 healthy controls. A total of 4,553 Caucasian (1000 Genome population code: CEU) individuals were recruited and successfully genotyped." . _:16a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1660; "cases (AD dementia and MCI) and healthy controls genotyped in the network's 2019 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6308232/fullTextXML"; rdfs:comment "We collected genotype data from the Norwegian DemGene network consisting of 2,893 cases and 1,660 healthy controls. A total of 4,553 Caucasian (1000 Genome population code: CEU) individuals were recruited and successfully genotyped." . _:16a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4553; "cases (AD dementia and MCI) and healthy controls genotyped in the network's 2019 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6308232/fullTextXML"; rdfs:comment "We collected genotype data from the Norwegian DemGene network consisting of 2,893 cases and 1,660 healthy controls. A total of 4,553 Caucasian (1000 Genome population code: CEU) individuals were recruited and successfully genotyped." . _:16a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DemGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5758; , , , , , , ; "GCST90053824"; "A consortium of genome-wide association studies of type 2 diabetes in people of European descent, whose successive case-control meta-analyses (DIAGRAMv2, DIAGRAMv3 and later) were used to discover and fine-map type 2 diabetes susceptibility loci."; 12171; 56862; "DIAGRAM", "DIAbetes Genetics Replication And Meta-analysis", "European descent in the Diabetes Genetics Replication And Meta-analysis"; ; rdfs:label "Diabetes Genetics Replication and Meta-analysis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5758 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5758; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34604815+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a multiethnic genome-wide association study of T2D among 53,102 cases and 193,679 control subjects from African, Hispanic, Asian, Native Hawaiian, and European population groups in the Population Architecture Genomics and Epidemiology (PAGE) and Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortia." . _:16aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC3080658/unicode"; rdfs:comment "We combined case-control data from the Wellcome Trust Case Control Consortium (WTCCC), Diabetes Genetics Initiative (DGI) and Finland-US Investigation of NIDDM genetics (FUSION) scans (the subjects of a previous joint analysis), with those from scans performed by deCODE genetics, the Diabetes Gene Discovery Group, the Cooperative Health Research in the Region of Augsburg group (KORAgen), the Rotterdam study and the European Special Population Research Network (EUROSPAN)." . _:16ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.120/MediaObjects/41588_2008_BFng120_MOESM8_ESM.pdf"; rdfs:comment "ADDITION/Ely /stage 3 892 1,610 UK T2D cases, non-diabetic controls" . _:16ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.521/MediaObjects/41588_2010_BFng521_MOESM16_ESM.pdf"; rdfs:comment "unpublished GWAS meta‐analyses of the DIAGRAM+ consortium (comprising DGDG, DGI, ERGO, EUROSPAN, FUSION, KORA, WTCCC and deCODE)" . _:16ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "FUSION-METSIM GMetS HNR IMPROVE KORAGen-Stage2 PIVUS PMB PROMIS SCARFSHEEP DUNDEE EAS EGCUT EMIL-ULM EPIC FUSION-Stage2 FUSION-D2D2007 FUSION-DRExtra FUSION-HUNT" . _:16ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "Supplementary Table 1. Study sample characteristics, genotyping, quality control and association analysis. FUSION-METSIM GMetS HNR IMPROVE KORAGen-Stage2 PIVUS PMB PROMIS SCARFSHEEP" . _:16af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "FUSION-METSIM GMetS HNR IMPROVE KORAGen-Stage2 PIVUS PMB PROMIS SCARFSHEEP DUNDEE EAS EGCUT EMIL-ULM EPIC FUSION-Stage2 FUSION-D2D2007 FUSION-DRExtra FUSION-HUNT" . _:16b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "ARIC deCODE DGDG DGI EUROSPAN FHS FUSION HPFS KORAGen NHS RS1 WTCCC AMC-PAS BHS deCODE-Stage2 DILGOM European (Finland) STR THISEAS ULSAM WARREN2" . _:16b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90053824"; "Genetic discovery and risk characterization in type 2 diabetes across diverse populations."; "PMID:34604815", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8486151/fullTextXML"; rdfs:comment "We conducted a multiethnic genome-wide association study of T2D among 53,102 cases and 193,679 control subjects from African, Hispanic, Asian, Native Hawaiian, and European population groups in the Population Architecture Genomics and Epidemiology (PAGE) and Diabetes Genetics Replication and Meta-analysis (DIAGRAM) Consortia." . _:16b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of genome-wide association studies of type 2 diabetes in people of European descent, whose successive case-control meta-analyses (DIAGRAMv2, DIAGRAMv3 and later) were used to discover and fine-map type 2 diabetes susceptibility loci."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3442244/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12171; "T2D cases and controls in the DIAGRAMv3 (Stage 1) GWAS meta-analysis, 12 GWAS (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3442244/fullTextXML"; rdfs:comment "This genome-wide meta-analysis (“DIAGRAMv3”) includes data from 12,171 cases and 56,862 controls of European descent imputed up to 2.5 million autosomal SNPs, and augments the previously published “DIAGRAMv2” meta-analysis4 with four additional GWAS (Supplementary Table 1)." . _:16b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 56862; "T2D cases and controls in the DIAGRAMv3 (Stage 1) GWAS meta-analysis, 12 GWAS (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3442244/fullTextXML"; rdfs:comment "This genome-wide meta-analysis (“DIAGRAMv3”) includes data from 12,171 cases and 56,862 controls of European descent imputed up to 2.5 million autosomal SNPs, and augments the previously published “DIAGRAMv2” meta-analysis4 with four additional GWAS (Supplementary Table 1)." . _:16b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIAGRAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5772, _:genid-371333f489424440b12a13b9d98ced822608-genid5774, _:genid-371333f489424440b12a13b9d98ced822608-genid5776; , ; ; "GCST90020096"; "A study population of patients with acute myeloid leukaemia, myelodysplastic syndrome or acute lymphoblastic leukaemia who received an unrelated-donor blood or marrow transplant in 2000–2011, and their HLA-matched unrelated donors, contributed by 151 US transplant centres to the Center for International Blood and Marrow Transplant Research, assembled in two cohorts to find non-HLA genetic variants associated with one-year survival after transplant."; 2888; "DISCOVeRY-BMT", "DISCOVeRY-BMT cohorts", "DISCOVeRY-BMT study", "Determining the Influence of Susceptibility Conveying Variants Related to One-Year Mortality after BMT"; ; rdfs:label "Determining the Influence of Susceptibility COnveying Variants Related to one-Year mortality after BMT"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5772 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5774 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5776 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5772; "acute lymphoblastic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8548922/fullTextXML"; rdfs:comment "To inform our hypothesis we used two independent cohorts for our study, Determining the Influence of Susceptibility COnveying Variants Related to one-Year mortality after BMT (DISCOVeRY-BMT) composed of acute myeloid leukemia (AML), MDS and acute lymphoblastic leukemia (ALL) patients and their ≥8/8 HLA-matched unrelated donors." . _:16b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5774; "acute myeloid leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8548922/fullTextXML"; rdfs:comment "To inform our hypothesis we used two independent cohorts for our study, Determining the Influence of Susceptibility COnveying Variants Related to one-Year mortality after BMT (DISCOVeRY-BMT) composed of acute myeloid leukemia (AML), MDS and acute lymphoblastic leukemia (ALL) patients and their ≥8/8 HLA-matched unrelated donors." . _:16b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5776; "myelodysplastic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8548922/fullTextXML"; rdfs:comment "To inform our hypothesis we used two independent cohorts for our study, Determining the Influence of Susceptibility COnveying Variants Related to one-Year mortality after BMT (DISCOVeRY-BMT) composed of acute myeloid leukemia (AML), MDS and acute lymphoblastic leukemia (ALL) patients and their ≥8/8 HLA-matched unrelated donors." . _:16b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8548922/fullTextXML"; rdfs:comment "The DISCOVeRY-BMT study population was contributed by 151 centers in the United States to the Center for International Blood and Marrow Transplant Research (CIBMTR) and consists of two cohorts of ALL, AML and MDS patients and their healthy ≥8/8 HLA-matched URDs described previously [5], [6], [7], [8], [9], [10], [11]." . _:16ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8548922/fullTextXML"; rdfs:comment "Recipients and donors provided written informed consent for participation in the Center for International Blood and Marrow Transplant Research clinical outcome database and research repository." . _:16bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90020096"; "Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility."; "PMID:34220922", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34220922+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed AML and MDS genome-wide association studies (GWAS) in the DISCOVeRY-BMT cohorts (2,309 cases and 2,814 controls)." . _:16bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study population of patients with acute myeloid leukaemia, myelodysplastic syndrome or acute lymphoblastic leukaemia who received an unrelated-donor blood or marrow transplant in 2000–2011, and their HLA-matched unrelated donors, contributed by 151 US transplant centres to the Center for International Blood and Marrow Transplant Research, assembled in two cohorts to find non-HLA genetic variants associated with one-year survival after transplant."; "PMID:34746714"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2888; "BMT recipients in the two cohorts after QC (their unrelated donors not counted)"; "PMID:28811306"; rdfs:comment "Replication and validation of these SNP associations were performed using DISCOVeRY-BMT (Determining the Influence of Susceptibility COnveying Variants Related to one-Year mortality after BMT), a well-powered genome-wide association study consisting of 2 cohorts, totaling 2888 BMT recipients with acute myeloid leukemia, acute lymphoblastic leukemia, or myelodysplastic syndrome, and their HLA-matched unrelated donors, reported to the Center for International Blood and Marrow Transplant Research." . _:16be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DISCOVeRY-BMT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5784; ; , ; ; "GCST90162599"; "A French consortium whose genome-wide association dataset of 2,032 Alzheimer's disease cases and 5,328 controls from France was assembled to identify late-onset Alzheimer's disease risk loci, and which later formed one of the four founding datasets of the International Genomics of Alzheimer's Project."; 2032; 5328; "EADI", "EADI consortium", "European AD Initiative", "European Alzheimer Disease Initiative", "European Alzheimer’s Disease Initiative"; ; rdfs:label "European Alzheimer's Disease Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5784; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19734903+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify other risk loci, we conducted a large genome-wide association study of 2,032 individuals from France with Alzheimer's disease (cases) and 5,328 controls." . _:16c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/fullTextXML"; rdfs:comment "We also considered 2661 samples with cognitive impairment from three population-based longitudinal studies: AgeCode [53], SNAC-K [54] (both included in EADB-core) and 3C [55] (included in EADI) (Supplementary Table S3)." . _:16c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19734903+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify other risk loci, we conducted a large genome-wide association study of 2,032 individuals from France with Alzheimer's disease (cases) and 5,328 controls." . _:16c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90162599"; "Polygenic resilience scores capture protective genetic effects for Alzheimer's disease."; "PMID:35879306", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9314356/fullTextXML"; rdfs:comment "Only summary statistics were made available to us from the European Alzheimer’s Disease Initiative, the Genetic and Environmental Risk in Alzheimer’s Disease, the Cohorts for Heart and Aging Research in Genomic Epidemiology, the Psychiatric Genomic Consortium, the Australian Imaging, Biomarker & Lifestyle Study, and the Sydney Memory and Ageing Study." . _:16c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French consortium whose genome-wide association dataset of 2,032 Alzheimer's disease cases and 5,328 controls from France was assembled to identify late-onset Alzheimer's disease risk loci, and which later formed one of the four founding datasets of the International Genomics of Alzheimer's Project."; "PMID:19734903"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2032; "AD cases and controls from France in the 2009 EADI GWAS (stage 1)"; "https://doi.org/10.1038/ng.439"; rdfs:comment "To identify other risk loci, we conducted a large genome-wide association study of 2,032 individuals from France with Alzheimer's disease (cases) and 5,328 controls." . _:16c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5328; "AD cases and controls from France in the 2009 EADI GWAS (stage 1)"; "https://doi.org/10.1038/ng.439"; rdfs:comment "To identify other risk loci, we conducted a large genome-wide association study of 2,032 individuals from France with Alzheimer's disease (cases) and 5,328 controls." . _:16c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EADI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5793, _:genid-371333f489424440b12a13b9d98ced822608-genid5795; "GCST90271608"; "A European consortium of clinical and laboratory epilepsy research groups, funded in 2007–2011 by the EU Sixth Framework Programme as the EPICURE project and coordinated by the Fondazione IRCCS Istituto Neurologico Carlo Besta in Italy, whose collections of people with genetic generalized epilepsy (such as the EPICURE-SP1 cohort) contributed cases to genome-wide association studies of epilepsy."; 3020; 3954; "EPICURE", "Functional Genomics and Neurobiology of Epilepsy: a basis for new therapeutic strategies"; ; rdfs:label "EPICURE Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5795 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5793; "epilepsy"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4189926/unicode"; rdfs:comment "For the specific category of genetic generalised epilepsy, we noted the association at 2p16.1 that was previously reported in the EPICURE cohort; this cohort provided about half of our sample for the meta-analysis of this subtype (table 1)." . _:16c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5795; "genetic generalised epilepsy"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4189926/unicode"; rdfs:comment "For the specific category of genetic generalised epilepsy, we noted the association at 2p16.1 that was previously reported in the EPICURE cohort; this cohort provided about half of our sample for the meta-analysis of this subtype (table 1)." . _:16c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271608"; "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture."; "PMID:37653029", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484785/fullTextXML"; rdfs:comment "EPICURE Consortium. et al." . _:16ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European consortium of clinical and laboratory epilepsy research groups, funded in 2007–2011 by the EU Sixth Framework Programme as the EPICURE project and coordinated by the Fondazione IRCCS Istituto Neurologico Carlo Besta in Italy, whose collections of people with genetic generalized epilepsy (such as the EPICURE-SP1 cohort) contributed cases to genome-wide association studies of epilepsy."; "PMID:34002374", "https://cordis.europa.eu/project/id/37315"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3020; "GGE patients and controls in the consortium's two-stage 2012 GWAS"; "PMID:22949513"; rdfs:comment "To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry." . _:16cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3954; "GGE patients and controls in the consortium's two-stage 2012 GWAS"; "PMID:22949513"; rdfs:comment "To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry." . _:16cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPICURE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5802; , , , , ; "GCST90271608"; "A collection of people with epilepsy and controls recruited and phenotyped with GlaxoSmithKline funding by the GenEpA Consortium in Finland, Norway, Switzerland and Austria, whose national sample sets were genotyped and contributed to genome-wide association studies of the common epilepsies."; "GenEPA", "GenEpA", "GenEpa"; ; rdfs:label "GenEpA Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5802; "focal epilepsy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484785/fullTextXML"; rdfs:comment "We removed SNPs <5% MAF in the Janssen Pharmaceuticals, Austrian GenEpa, Swiss GenEpa, Norwegian GenEpa and BPCCC cohorts for QC reasons, and note there will be a corresponding loss in study power for lower frequency SNPs in the ‘focal’ and ‘all epilepsy’ epilepsy analysis." . _:16cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484785/fullTextXML"; rdfs:comment "We removed SNPs <5% MAF in the Janssen Pharmaceuticals, Austrian GenEpa, Swiss GenEpa, Norwegian GenEpa and BPCCC cohorts for QC reasons, and note there will be a corresponding loss in study power for lower frequency SNPs in the ‘focal’ and ‘all epilepsy’ epilepsy analysis." . _:16d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271608"; "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture."; "PMID:37653029", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484785/fullTextXML"; rdfs:comment "GWAS of the Janssen Pharmaceuticals, Swiss GenEpa, Norwegian GenEpa and Austrian GenEpa cohorts was performed as a mega-analysis, as described previously4." . _:16d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of people with epilepsy and controls recruited and phenotyped with GlaxoSmithKline funding by the GenEpA Consortium in Finland, Norway, Switzerland and Austria, whose national sample sets were genotyped and contributed to genome-wide association studies of the common epilepsies."; "PMID:20522523", "PMID:30531953", "PMID:37653029"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenEPA"; . _:16d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenEpA"; . _:16d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenEpa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5810; , , ; , , , , ; ; "GCST90162599"; "A consortium led from Cardiff University that brought together Alzheimer's disease cases and screened elderly controls recruited by institutions in the United Kingdom, Germany and the United States, with population controls from existing British and German cohorts, into a genome-wide association dataset of Alzheimer's disease; one of the four datasets meta-analysed by the International Genomics of Alzheimer's Project."; 3941; 7848; 11789; "Defining Genetic, Polygenic and Environmental Risk for Alzheimer's Disease Consortium", "GERAD", "GERAD consortium", "GERAD/PERADES", "GERAD1", "GERAD1 Consortium", "Genetic and Environmental Risk for Alzheimer's disease Consortium", "Genetic and Environmental Risk in AD", "Genetic and Environmental Risk in AD Consortium 1", "Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer's Disease Consortium", "Genetic and Environmental Risk in Alzheimer’s Disease", "PERADES", "Polygenic and Environmental Risk for Alzheimer's Disease"; ; rdfs:label "Genetic and Environmental Risk in Alzheimer's Disease Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5810 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5810; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19734902+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848 controls), we replicated the established association with the apolipoprotein E (APOE) locus" . _:16d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3750021/fullTextXML"; rdfs:comment "The GERAD1 sample comprised up to 3941 AD cases and 7848 controls. A subset of this sample has been used in this study, comprising 3333 cases and 1225 elderly screened controls genotyped at the Sanger Institute on the Illumina 610-quad chip. These samples were recruited by the Medical Research Council (MRC) Genetic Resource for AD (Cardiff University; Kings College London; Cambridge University; Trinity College Dublin), the Alzheimer's Research Trust (ART) Collaboration (University of Nottingham; University of Manchester; University of Southampton; University of Bristol; Queen's University Belfast; the Oxford Project to Investigate Memory and Ageing (OPTIMA), Oxford University)" . _:16d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0358-2/MediaObjects/41588_2019_358_MOESM1_ESM.pdf"; rdfs:comment "Cases and elderly screened controls were recruited by the Medical Research Council (MRC) Genetic Resource for Alzheimer’s disease (Cardiff University; Institute of Psychiatry, London; Cambridge University; Trinity College Dublin), the Alzheimer’s Research Trust (ART) Collaboration (University of Nottingham; University of Manchester; University of Southampton; University of Bristol; Queen’s University Belfast; the Oxford Project to Investigate Memory and Ageing (OPTIMA), Oxford University); Washington University, St Louis, United States; MRC PRION Unit, University College London; London and the South East Region Alzheimer’s disease project (LASER-AD), University College London; Competence Network of Dementia (CND) and Department of Psychiatry, University of Bonn, Germany; the National Institute of Mental Health (NIMH) Alzheimer’s disease Genetics Initiative." . _:16d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0358-2/MediaObjects/41588_2019_358_MOESM1_ESM.pdf"; rdfs:comment "Cases and elderly screened controls were recruited by the Medical Research Council (MRC) Genetic Resource for Alzheimer’s disease (Cardiff University; Institute of Psychiatry, London; Cambridge University; Trinity College Dublin), the Alzheimer’s Research Trust (ART) Collaboration (University of Nottingham; University of Manchester; University of Southampton; University of Bristol; Queen’s University Belfast; the Oxford Project to Investigate Memory and Ageing (OPTIMA), Oxford University); Washington University, St Louis, United States; MRC PRION Unit, University College London; London and the South East Region Alzheimer’s disease project (LASER-AD), University College London; Competence Network of Dementia (CND) and Department of Psychiatry, University of Bonn, Germany; the National Institute of Mental Health (NIMH) Alzheimer’s disease Genetics Initiative." . _:16d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "Covariates were included in the logistic regression analysis to allow for geographical region and chip, i.e. to distinguish between 1) individuals from the British Isles, 2) individuals from Germany, 3) individuals from the US typed on the 610 or 550 chip, 4) individuals from the US typed on the 300 chip." . _:16da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90162599"; "Polygenic resilience scores capture protective genetic effects for Alzheimer's disease."; "PMID:35879306", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9314356/fullTextXML"; rdfs:comment "The variance in AD explained by PRS maximizes at a P-value threshold of 0.5 in participants from GERAD (Genetic and Environmental Risk for Alzheimer’s disease) [23] and 22 locally available ADGC (Alzheimer’s Disease Genetics Consortium) studies (Supplementary Fig. 4)." . _:16db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium led from Cardiff University that brought together Alzheimer's disease cases and screened elderly controls recruited by institutions in the United Kingdom, Germany and the United States, with population controls from existing British and German cohorts, into a genome-wide association dataset of Alzheimer's disease; one of the four datasets meta-analysed by the International Genomics of Alzheimer's Project."; "PMID:19734902", "PMID:29532500", "PMID:39633006"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3941; "AD cases and controls in the GERAD1 stage 1 GWAS dataset (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "Thus, in Stage 1, we tested 529,205 autosomal SNPs for association in up to 11,789 subjects (3,941 AD cases, 7,848 controls of which 2,078 were elderly screened controls, see Supplementary Table 1)." . _:16dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7848; "AD cases and controls in the GERAD1 stage 1 GWAS dataset (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "Thus, in Stage 1, we tested 529,205 autosomal SNPs for association in up to 11,789 subjects (3,941 AD cases, 7,848 controls of which 2,078 were elderly screened controls, see Supplementary Table 1)." . _:16de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11789; "AD cases and controls in the GERAD1 stage 1 GWAS dataset (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "Thus, in Stage 1, we tested 529,205 autosomal SNPs for association in up to 11,789 subjects (3,941 AD cases, 7,848 controls of which 2,078 were elderly screened controls, see Supplementary Table 1)." . _:16df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GERAD"; . _:16e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GERAD/PERADES"; . _:16e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GERAD1"; . _:16e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PERADES"; . a owl:NamedIndividual, ; , ; "GCST90565484"; "A University of Michigan study that engages the public through a Facebook application for health-history and daily-tracking surveys and mails saliva kits for genotyping to participants who complete enough surveys, having engaged more than 80,000 people from all 50 US states by 2019 for genetic research on health and behaviour."; 81110; "GFG", "GGP", "Genes for Good Project"; ; rdfs:label "Genes for Good"@en . _:16e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31204010+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Rates of important chronic health indicators are consistent with those estimated for the general U.S. population using more traditional study designs." . _:16e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565484"; "Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility."; "PMID:41558814", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13479210/fullTextXML"; rdfs:comment "The University of Michigan Institutional Review Board approved the Genes for Good study." . _:16e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A University of Michigan study that engages the public through a Facebook application for health-history and daily-tracking surveys and mails saliva kits for genotyping to participants who complete enough surveys, having engaged more than 80,000 people from all 50 US states by 2019 for genetic research on health and behaviour."; "PMID:31204010"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 81110; "participants who signed the electronic consent form (2019)"; "https://europepmc.org/api/getPdf?pmcid=PMC6612519"; rdfs:comment "As of March 2019, 117,652 participants had tried the app, with 81,110 signing the electronic consent form." . _:16e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GFG"; . _:16e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GGP"; . _:16e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genes for Good Project"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5832; "GCST90271608"; "A collection of people with epilepsy of European (British) ancestry, assembled by the Imperial-Liverpool-Melbourne Collaboration and genotyped genome-wide, that contributed cases to the ILAE Consortium on Complex Epilepsies meta-analyses of genome-wide association studies of the common epilepsies."; 1703; 2699; 1703; "ILM", "ILM Collaboration"; ; rdfs:label "Imperial-Liverpool-Melbourne Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5832 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5832; "epilepsy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484785/supplementaryFiles"; rdfs:comment "Imperial-Liverpool- Melbourne British Case 1294 Illumina Omni-Express" . _:16eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271608"; "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture."; "PMID:37653029", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10484785/supplementaryFiles"; rdfs:comment "Imperial-Liverpool- Melbourne British Case 1294 Illumina Omni-Express" . _:16ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of people with epilepsy of European (British) ancestry, assembled by the Imperial-Liverpool-Melbourne Collaboration and genotyped genome-wide, that contributed cases to the ILAE Consortium on Complex Epilepsies meta-analyses of genome-wide association studies of the common epilepsies."; "PMID:25087078", "PMID:37653029"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1703; "epilepsy cases from the collaboration after QC, as analysed in the 2014 ILAE meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4189926/"; rdfs:comment "ILM Collaboration European descent 1703 212 1263 2699" . _:16ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2699; "epilepsy cases from the collaboration after QC, as analysed in the 2014 ILAE meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4189926/"; rdfs:comment "ILM Collaboration European descent 1703 212 1263 2699" . _:16ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1703; "epilepsy cases from the collaboration after QC, as analysed in the 2014 ILAE meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4189926/"; rdfs:comment "ILM Collaboration European descent 1703 212 1263 2699" . _:16f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ILM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5840; , , ; , ; ; "GCST90244653", "PGS005102"; "A family-based study of Mexican Americans in San Antonio, Texas, United States, made up of the San Antonio Family Heart Study (extended families of randomly selected low-income Mexican American probands) and the San Antonio Family Diabetes/Gallbladder Study (extended families of probands with type 2 diabetes from the San Antonio Heart Study), both begun in 1991 and followed with repeated examinations, to study the genetics of cardiovascular disease, type 2 diabetes and related traits."; 1431; "MAFEGWAS", "SAFS", "SAMAFS", "San Antonio Family Studies", "San Antonio Mexican American Family Studies", "San Antonio Mexican American Family Study"; , ; rdfs:label "San Antonio Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5840 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:16f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5840; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4145406/fullTextXML"; rdfs:comment "The SAFDGS also began in 1991 as the San Antonio Family Diabetes Study [2] and recruited low-income Mexican Americans with type 2 diabetes identified in an earlier epidemiologic survey, the San Antonio Heart Study." . _:16f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8901667+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Among Mexican Americans from San Antonio (Tex), we quantified the relative contributions of both genetic and environmental influences to a large panel of cardiovascular risk factors, including serum levels of lipids, lipoproteins, glucose, hormones, adiposity, and blood pressure." . _:16f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244653"; "Whole genome sequence analysis of blood lipid levels in >66,000 individuals."; "PMID:36220816", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9553944/fullTextXML"; rdfs:comment "San Antonio Family Study (SAFS) phs001215 and phs000462;" . _:16f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005102"; "Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities."; "PMID:41844147" . _:16f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of Mexican Americans in San Antonio, Texas, United States, made up of the San Antonio Family Heart Study (extended families of randomly selected low-income Mexican American probands) and the San Antonio Family Diabetes/Gallbladder Study (extended families of probands with type 2 diabetes from the San Antonio Heart Study), both begun in 1991 and followed with repeated examinations, to study the genetics of cardiovascular disease, type 2 diabetes and related traits."; "PMID:25519314", "PMID:35399580", "PMID:8901667"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1431; "individuals in 42 extended families at baseline (1991)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-33510-7/MediaObjects/41467_2022_33510_MOESM1_ESM.pdf"; rdfs:comment "The SAFS began in 1991, and included 1,431 individuals in 42 extended families at baseline." . _:16f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAFEGWAS"; . _:16f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAFS"; . _:16f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAMAFS"; . a owl:NamedIndividual, ; , ; ; "GCST90014287"; "A longitudinal study of same-sex twin pairs born in Sweden and drawn from the Swedish Twin Registry, including pairs separated before age 11 and reared apart, with questionnaires and in-person testing from 1984 to 2014, to understand the factors that contribute to healthy ageing and longevity."; 2018; "SATSA", "Swedish Adoption Twin Study of Aging"; ; rdfs:label "Swedish Adoption/Twin Study of Aging"@en . _:16fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12283397/fullTextXML"; rdfs:comment "The SATSA dataset was drawn from the Swedish Twin Registry and includes same-sex twin pairs born in Sweden separated before the age of 11 years and reared apart." . _:16fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12283397/fullTextXML"; rdfs:comment "The SATSA dataset was drawn from the Swedish Twin Registry and includes same-sex twin pairs born in Sweden separated before the age of 11 years and reared apart." . _:16fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014287"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/supplementaryFiles"; rdfs:comment "The Swedish Adoption/Twin Study of Aging (SATSA) Cohort description The SATSA is a twin cohort that aims to understand individual differences in aging." . _:16fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of same-sex twin pairs born in Sweden and drawn from the Swedish Twin Registry, including pairs separated before age 11 and reared apart, with questionnaires and in-person testing from 1984 to 2014, to understand the factors that contribute to healthy ageing and longevity."; "PMID:40188287"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:16fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2018; "twins who responded to the first (1984) questionnaire"; "https://researchdata.se/en/catalogue/dataset/ext0044-1"; rdfs:comment "Out of these 2018 responded (71%)." . _:16ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SATSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5856; , , , , , , , , , , , , , , , , , , , , , ; , , , , , , , , , , , , ; ; "GCST90255376"; "A network, funded by the US National Institute of Neurological Disorders and Stroke, that brought together ischaemic stroke case collections from genetic research centres in the United States, Europe and Australia, with stroke subtypes harmonised by the web-based Causative Classification of Stroke system, for genome-wide association studies of ischaemic stroke and its subtypes."; 16851; 32473; 16851; "NINDS Stroke Genetics Network", "NINDS-SiGN", "National Institute of Neurological Disorders and Stroke SiGN", "SIGN", "SiGN", "The National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network (SiGN)"; ; rdfs:label "Stroke Genetics Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5856 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5856; "ischemic stroke"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "National Institute of Neurologic Disorders and Stroke (NINDS) has established the Stroke Genetics Network (SiGN) with the goal of assembling the largest possible sample of individuals with ischemic stroke for genetic studies, where each individual has been uniformly and thoroughly characterized for stroke subtyping." . _:17012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6260132/fullTextXML"; rdfs:comment "DNA was extracted from whole blood and genotyping was performed with either the HumanOmniExpress Exome BeadChip v1.0 at the Broad Institute (SAHLSIS: n = 756; MDC: n = 2,060) or the HumanOmni 5M Exome v1.0 as part of the Stroke Genetics Network (SiGN) study (SAHLSIS: n = 444; Illumina, San Diego, California, United States) as described." . _:17022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:17042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "Funding per SiGN cohort ASGC: Australian population control data were derived from the Hunter Community Study." . _:17052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4912948/"; rdfs:comment "Summary-level imputed data from one additional cohort (VISP) was added to the stage I meta-analysis." . _:17072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:17082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:170a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "These include previously genotyped control groups from Sweden, Spain, the UK, and Austria to be paired with the cases to be genotyped from the two GRCs from Sweden (LUND and SAHLSIS), and from the GRCs from Spain (BASICMAR), the UK (BRAINS), and Austria (GRAZ)." . _:170b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:170c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "Because suitable control groups with available GWAS genotyping could not be identified from Poland and Belgium, controls from the KRAKOW and LEUVEN GRCs will also be genotyped as part of SiGN." . _:170d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "Because suitable control groups with available GWAS genotyping could not be identified from Poland and Belgium, controls from the KRAKOW and LEUVEN GRCs will also be genotyped as part of SiGN." . _:170e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4010766/fullTextXML"; rdfs:comment "CASES GENOTYPED THROUGH SiGN (US SITES)GASROSBoston, USAIllumina HumanOmni 5M Exome470GCNKSSGreater Cincinnati region, USAIllumina HumanOmni 5M Exome499ISGSMulti-center, USAIllumina HumanOmni 5M Exome187MCISSNew Jersey, USA" . _:170f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4010766/unicode"; rdfs:comment "CASES GENOTYPED THROUGH SiGN (US SITES) GASROS Boston, USA Illumina HumanOmni 5M Exome 470 GCNKSS Greater Cincinnati region, USA Illumina HumanOmni 5M Exome 499 ISGS Multi-center, USA Illumina HumanOmni 5M Exome 187 MCISS New Jersey, USA Illumina HumanOmni 5M Exome 630 MIAMISR Miami, USA Illumina HumanOmni 5M Exome 299 NHS National sample, USA Illumina HumanOmni 5M Exome 316 NOMAS(S) Manhattan, USA Illumina HumanOmni 5M Exome 363 REGARDS National sample, USA Illumina HumanOmni 5M Exome 311 SPS3 Multi-center; USA; Latin America, Spain Illumina HumanOmni 5M Exome 962 SWISS Multi-center, USA Illumina HumanOmni 5M Exome 271 WHI National sample, USA Illumina HumanOmni 5M Exome 458 WUSTL St. Louis, USA" . _:17142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "A total of 4,253 additional CCS-phenotyped cases from 10 GRCs across Europe and the US have been previously genotyped prior to initiating SiGN (BRAINS, EDIN, GASROS, GEOS, ISGS, NHS, MUNICH, OXVASC, ST GEORGE’S, and SWISS)." . _:17152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4912948/"; rdfs:comment "BASICMAR Spain 5M EUR, HIS 890 – ADHD Spain 1M EUR – 411 INMA Spain 1M EUR – 807" . _:17162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4912948/"; rdfs:comment "UTRECHT, Utrecht ImmunoChip Study/PROMISe Study" . _:17172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4912948/unicode"; rdfs:comment "KORA Germany 550 EUR – 804 WTCCC U.K. 660 EUR – 5,150 GEOS U.S.A. 1M AFR, EUR 843 880 BRAINS U.K. 5M EUR, HIS 110 – MGH-GASROS U.S.A. 5M AFR, EUR, HIS 456 – GCNKSS U.S.A. 5M AFR, EUR, HIS 482 – ISGS U.S.A. 5M AFR, EUR, HIS 178 – MCISS U.S.A. 5M AFR, EUR, HIS 619 – MIAMISR U.S.A. 5M AFR, EUR, HIS 294 – NHS U.S.A. 5M EUR, HIS 314 – NOMAS U.S.A. 5M AFR, EUR, HIS 358 – REGARDS U.S.A. 5M AFR, EUR, HIS 304 – SPS3 The Americas, Spain 5M AFR, EUR, HIS 949 – SWISS U.S.A. 5M AFR, EUR, HIS 181 – WHI U.S.A. 5M AFR, EUR, HIS 454 – WUSTL U.S.A. 5M AFR, EUR, HIS 449 – HRS U.S.A. 2.5M AFR, EUR, HIS – 11,174 OAI U.S.A. 2.5M AFR, EUR – 3,882 HCHS/SOL U.S.A. 2.5M HIS – 1,214 KRAKOW Poland 5M EUR, HIS 880 717 LEUVEN Belgium 5M EUR, HIS 460 453 BASICMAR Spain 5M EUR, HIS 890 – ADHD Spain 1M EUR – 411 INMA Spain 1M EUR – 807 GRAZ Austria 610 EUR – 815 GRAZ Austria 5M EUR 609 – SAHLSIS Sweden 5M EUR, HIS 783 – LUND Sweden 5M EUR, HIS 613 – MDC1 Sweden 610 EUR, HIS 211 1,362 ASGC Australia 610 EUR 1,109 1,200 VISP U.S.A., Canada, Scotland" . _:17182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255376"; "Exome Array Analysis of 9721 Ischemic Stroke Cases from the SiGN Consortium."; "PMID:36672803", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36672803+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To evaluate the contribution of coding variants, which are mostly rare, we performed an exome array analysis on 106,101 SNPs for 9721 ischemic stroke cases from the SiGN Consortium, and 12,345 subjects with no history of stroke from the Health Retirement Study and SiGN consortium." . _:17192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A network, funded by the US National Institute of Neurological Disorders and Stroke, that brought together ischaemic stroke case collections from genetic research centres in the United States, Europe and Australia, with stroke subtypes harmonised by the web-based Causative Classification of Stroke system, for genome-wide association studies of ischaemic stroke and its subtypes."; "PMID:24021684", "PMID:26708676", "PMID:36672803"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:171a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16851; "ischaemic stroke cases in stage 1 of the 2016 SiGN GWAS (controls largely from public studies)"; "PMID:26708676"; rdfs:comment "The first stage consisted of 16,851 cases with state-of-the-art phenotyping and 32,473 stroke-free controls." . _:171b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32473; "ischaemic stroke cases in stage 1 of the 2016 SiGN GWAS (controls largely from public studies)"; "PMID:26708676"; rdfs:comment "The first stage consisted of 16,851 cases with state-of-the-art phenotyping and 32,473 stroke-free controls." . _:171c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16851; "ischaemic stroke cases in stage 1 of the 2016 SiGN GWAS (controls largely from public studies)"; "PMID:26708676"; rdfs:comment "The first stage consisted of 16,851 cases with state-of-the-art phenotyping and 32,473 stroke-free controls." . _:171d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NINDS-SiGN"; . _:171e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIGN"; . _:171f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SiGN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5889, _:genid-371333f489424440b12a13b9d98ced822608-genid5891; , ; "GCST90269923"; "A multicentre observational cohort of current and former smokers aged 40–80 with or without airflow obstruction, and never-smoking controls, recruited at clinical sites across the United States with baseline and annual follow-up visits, to find subgroups of chronic obstructive pulmonary disease and biomarkers usable as intermediate outcomes in therapeutic trials."; 2982; "SPIROMICS", "Sub-Populations and InteRmediate Outcome Measures in COPD Study", "Subpopulations and Intermediate Outcome Measures in COPD Study", "Subpopulations and Intermediate Outcomes in COPD Study", "Subpopulations and intermediate outcome measures in COPD study"; ; rdfs:label "SubPopulations and InteRmediate Outcome Measures in COPD Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5889 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5891 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5889; "current and former smokers (≥ 20 pack years)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8077917/fullTextXML"; rdfs:comment "The SPIROMICS study is a multicenter study that includes current and former smokers (≥ 20 pack years) with or without airflow obstruction and healthy participants who were non-smokers aged 40 to 80 years recruited from 12 clinical sites spread across the United States." . _:17212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5891; "chronic obstructive pulmonary disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3954445/unicode"; rdfs:comment "The goal is to enroll 3,200 participants in four strata: severe COPD, mild/moderate COPD, smokers without airflow obstruction and non-smoking controls." . _:17222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8077917/fullTextXML"; rdfs:comment "The SPIROMICS study is a multicenter study that includes current and former smokers (≥ 20 pack years) with or without airflow obstruction and healthy participants who were non-smokers aged 40 to 80 years recruited from 12 clinical sites spread across the United States." . _:17232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269923"; "Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes."; "PMID:37352370", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37352370+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a GWAS to identify quantitative trait loci for sputum mucin protein concentration (pQTL) in the Sub-Populations and InteRmediate Outcome Measures in COPD Study (SPIROMICS, n = 708 for total mucin, n = 215 for MUC5AC, MUC5B)." . _:17242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre observational cohort of current and former smokers aged 40–80 with or without airflow obstruction, and never-smoking controls, recruited at clinical sites across the United States with baseline and annual follow-up visits, to find subgroups of chronic obstructive pulmonary disease and biomarkers usable as intermediate outcomes in therapeutic trials."; "PMID:24029743"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2982; "participants originally enrolled (SPIROMICS I)"; "https://www.spiromics.org/spiromics/participants"; rdfs:comment "SPIROMICS originally enrolled 2,982 participants, for a three-year study of current and former smokers and individuals who had never smoked." . _:17262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPIROMICS"; . a owl:NamedIndividual, ; , , ; "GCST90104263"; "A hospital-based cohort of older adults, many with various diseases, at the Veterans Health Service Medical Center in Seoul, South Korea, with samples held by the Veterans Medical Research Institute Biobank and genotyped on the Korea Biobank Array for genome-wide association studies of body composition and cardiometabolic traits."; 2518; "VHSMC", "VHSMC cohort"; ; rdfs:label "Veterans Health Service Medical Center cohort"@en . _:17272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8894365/fullTextXML"; rdfs:comment "The current study conducted a GWAS meta-analysis on sarcopenia phenotypes using Korean relatively aged cohorts, combining the Veterans Health Service Medical Center (VHSMC) and Korean Association Resource (KARE) cohorts." . _:17282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104263"; "Unveiling genetic variants for age-related sarcopenia by conducting a genome-wide association study on Korean cohorts."; "PMID:35241739", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8894365/fullTextXML"; rdfs:comment "The current study conducted a GWAS meta-analysis on sarcopenia phenotypes using Korean relatively aged cohorts, combining the Veterans Health Service Medical Center (VHSMC) and Korean Association Resource (KARE) cohorts." . _:17292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of older adults, many with various diseases, at the Veterans Health Service Medical Center in Seoul, South Korea, with samples held by the Veterans Medical Research Institute Biobank and genotyped on the Korea Biobank Array for genome-wide association studies of body composition and cardiometabolic traits."; "PMID:35241739"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:172a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2518; "eligible VHSMC subjects with microarray data in the sarcopenia GWAS"; "PMID:35241739"; rdfs:comment "Data were obtained from two cohorts: the VHSMC (n = 2518) and KARE (Ansan/Ansung study: from Korean Genome and Epidemiology Cohort, n = 5235) cohorts." . _:172b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VHSMC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5903, _:genid-371333f489424440b12a13b9d98ced822608-genid5905; "GCST90188370"; "A multinational European network of patients with cervical artery dissection, with ischaemic stroke patients of other causes and healthy controls, recruited with standardised clinical, laboratory, imaging, treatment and outcome data to identify genetic variants and environmental factors associated with cervical artery dissection."; 983; 658; 983; "CADISP", "CADISP study", "Cervical Artery Dissection and Ischaemic Stroke Patients", "Cervical Artery Dissections and Ischemic Stroke Patients"; ; rdfs:label "Cervical Artery Dissection and Ischemic Stroke Patients"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5903 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5905 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:172c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5903; "cervical artery dissection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19659826+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "For this purpose, DNA from approximately 1100 patients with CAD, and 2000 healthy controls is being collected." . _:172d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5905; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19659826+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "For this purpose, DNA from approximately 1100 patients with CAD, and 2000 healthy controls is being collected." . _:172e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90188370"; "Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke."; "PMID:36240095", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9620803/fullTextXML"; rdfs:comment "for the Cervical Artery Dissections and Ischemic Stroke Patients (CADSIP) Consortium" . _:172f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational European network of patients with cervical artery dissection, with ischaemic stroke patients of other causes and healthy controls, recruited with standardised clinical, laboratory, imaging, treatment and outcome data to identify genetic variants and environmental factors associated with cervical artery dissection."; "PMID:19659826"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 983; "consecutive cervical artery dissection patients (plus 658 non-CeAD ischaemic stroke control patients), 2009"; "PMID:22150935"; rdfs:comment "This case-control study is based on the CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) population comprising 983 consecutive CeAD patients (mean age: 44.1 ± 9.9 years) and 658 control patients with a non-CeAD ischemic stroke (IS) (44.5 ± 10.5 years)." . _:17312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 658; "consecutive cervical artery dissection patients (plus 658 non-CeAD ischaemic stroke control patients), 2009"; "PMID:22150935"; rdfs:comment "This case-control study is based on the CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) population comprising 983 consecutive CeAD patients (mean age: 44.1 ± 9.9 years) and 658 control patients with a non-CeAD ischemic stroke (IS) (44.5 ± 10.5 years)." . _:17322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 983; "consecutive cervical artery dissection patients (plus 658 non-CeAD ischaemic stroke control patients), 2009"; "PMID:22150935"; rdfs:comment "This case-control study is based on the CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) population comprising 983 consecutive CeAD patients (mean age: 44.1 ± 9.9 years) and 658 control patients with a non-CeAD ischemic stroke (IS) (44.5 ± 10.5 years)." . _:17332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADISP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5913; , ; "GCST90841457"; "A prospective prebirth cohort of about 1,000 pregnant women aged 18 or over recruited in the first trimester at the pregnancy blood-sampling clinic in Sherbrooke, Canada, between 2010 and 2013, and their children, followed to study the biological, environmental and genetic determinants of glucose regulation in pregnancy and its effects on fetal development and offspring health."; 1024; "Gen3G", "Genetics of Glycemic regulation in Gestation and Growth"; ; rdfs:label "Genetics of Glucose regulation in Gestation and Growth"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5913 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5913; "gestational diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40122564+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Initiated in 2010, the Genetics of Glucose regulation in Gestation and Growth (Gen3G) prospective cohort investigates the pathophysiology of impaired glycaemic regulation in pregnancy and evaluates its impact on both the mothers and her offspring health trajectory." . _:17352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26842272+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genetics of Glucose regulation in Gestation and Growth (Gen3G): a prospective prebirth cohort of mother-child pairs in Sherbrooke, Canada." . _:17362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841457"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/fullTextXML"; rdfs:comment "EFSOCH (EUR), Gen3G (EUR), FinnGeDi (EUR), ALSPAC (EUR), HAPO (EUR, AFR, EAS, SAS, HIS) and ELGH (SAS)." . _:17372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective prebirth cohort of about 1,000 pregnant women aged 18 or over recruited in the first trimester at the pregnancy blood-sampling clinic in Sherbrooke, Canada, between 2010 and 2013, and their children, followed to study the biological, environmental and genetic determinants of glucose regulation in pregnancy and its effects on fetal development and offspring health."; "PMID:26842272", "PMID:40122564"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1024; "pregnant women recruited in the first trimester, 2010-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11931902/fullTextXML"; rdfs:comment "Gen3G is a prospective pregnancy and birth cohort that recruited 1024 pregnant women in the first trimester of pregnancy in Sherbrooke, Canada, between January 2010 and June 2013." . _:17392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gen3G"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5920, _:genid-371333f489424440b12a13b9d98ced822608-genid5922, _:genid-371333f489424440b12a13b9d98ced822608-genid5924, _:genid-371333f489424440b12a13b9d98ced822608-genid5926, _:genid-371333f489424440b12a13b9d98ced822608-genid5928; , ; "GCST90093074"; "A population-based birth cohort of children recruited in utero through the antenatal clinics of Wythenshawe and Stepping Hill Hospitals in South Manchester and Cheshire, England, with parents screened for atopy, and followed prospectively through childhood to study the genetic and environmental determinants of asthma and allergic disease."; 1184; "MAAS", "National Asthma Campaign Manchester Asthma and Allergy Study"; ; rdfs:label "Manchester Asthma and Allergy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5920 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5924 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5926 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5928 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:173a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5920; "house dust mite; cat and dog allergens during pregnancy and early life"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688622+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Measurements of environmental exposures include levels of house dust mite; cat and dog allergens during pregnancy and early life; pet ownership and exposure; childcare arrangements; number of siblings; vaccination uptake; thorough dietary questionnaire; and endotoxin exposure." . _:173b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5922; "thorough dietary questionnaire"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688622+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Measurements of environmental exposures include levels of house dust mite; cat and dog allergens during pregnancy and early life; pet ownership and exposure; childcare arrangements; number of siblings; vaccination uptake; thorough dietary questionnaire; and endotoxin exposure." . _:173c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5924; "endotoxin exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688622+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Measurements of environmental exposures include levels of house dust mite; cat and dog allergens during pregnancy and early life; pet ownership and exposure; childcare arrangements; number of siblings; vaccination uptake; thorough dietary questionnaire; and endotoxin exposure." . _:173d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5926; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688622+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The NACManchester Asthma and Allergy Study is a prospective study of the development of asthma and allergies in childhood." . _:173e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5928; "allergies"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12688622+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The NACManchester Asthma and Allergy Study is a prospective study of the development of asthma and allergies in childhood." . _:173f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9356009/fullTextXML"; rdfs:comment "Participants were recruited from the maternity catchment area of Wythenshawe and Stepping Hill Hospitals (50 square miles of South Manchester and Cheshire), a stable mixed urban–rural population (http://www.maas.org.uk)." . _:17402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093074"; "A systems immunology approach to investigate cytokine responses to viruses and bacteria and their association with disease."; "PMID:35931775", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9356009/fullTextXML"; rdfs:comment "The children studied were participants in the Manchester Asthma and Allergy Study (MAAS), a population-based birth cohort (see “Methods” section for further details)." . _:17412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based birth cohort of children recruited in utero through the antenatal clinics of Wythenshawe and Stepping Hill Hospitals in South Manchester and Cheshire, England, with parents screened for atopy, and followed prospectively through childhood to study the genetic and environmental determinants of asthma and allergic disease."; "PMID:12688622", "PMID:35931775"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1184; "children born into the birth cohort, February 1996-April 1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6899469/fullTextXML"; rdfs:comment "It included 1184 children born between February 1996 and April 1998." . _:17432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5935; "GCST90270100"; "A research registry of community volunteers aged 18 to 65 living in the Greater Hamilton area, with or without addiction problems, run by the Peter Boris Centre for Addictions Research at St. Joseph's Healthcare Hamilton, whose participants completed questionnaires, simple physical measurements and an in-person assessment and gave saliva for DNA genotyping through 23andMe, to build a cohort for research on the causes, consequences and treatment of addiction."; 2098; "PATH", "PATH registry"; ; rdfs:label "Population Assessment for Tomorrow's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5935; "addiction"; "https://pbcar.healthsci.mcmaster.ca/research/projects/population-assessment-for-tomorrows-health-study-path/"; rdfs:comment "The PATH registry’s purpose is to gather information from volunteers, with or without addiction problems, to develop a cohort for future research studies, which will help further our understanding of the causes, consequences and treatment of individuals with addiction disorder." . _:17452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270100"; "Leveraging related health phenotypes for polygenic prediction of impulsive choice, impulsive action, and impulsive personality traits in 1534 European ancestry community adults."; "PMID:37060189", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10242187/fullTextXML"; rdfs:comment "Participants were from an existing research registry at St. Joseph's Healthcare Hamilton in which community adults were invited to participate in an in‐person assessment including DNA collection." . _:17462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research registry of community volunteers aged 18 to 65 living in the Greater Hamilton area, with or without addiction problems, run by the Peter Boris Centre for Addictions Research at St. Joseph's Healthcare Hamilton, whose participants completed questionnaires, simple physical measurements and an in-person assessment and gave saliva for DNA genotyping through 23andMe, to build a cohort for research on the causes, consequences and treatment of addiction."; "PMID:35080193", "PMID:37060189", "https://pbcar.healthsci.mcmaster.ca/research/projects/population-assessment-for-tomorrows-health-study-path/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2098; "registry participants genotyped (via 23andMe)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10242187/fullTextXML"; rdfs:comment "Two thousand and ninety‐eight participants were genotyped on Illumina Infinium® Global Screening Array as a membership service from 23andMe Inc; imputation was performed using the Michigan Imputation Server." . _:17482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PATH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5941; , , ; "GCST90002413"; "A prospective community-based cohort of 9,540 Han Chinese adults aged 40 and over enrolled in December 2011–April 2012 in the Gucheng and Pingguoyuan communities of Shijingshan district, Beijing, China, by Peking University with the University of Michigan, to study atherosclerosis, blood pressure and other cardiovascular traits."; 9540; "PUUMA", "PUUMA Study"; ; rdfs:label "Peking University-University of Michigan Study of Atherosclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5941 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5941; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11421807/fullTextXML"; rdfs:comment "subjects were recruited into the Peking University-University of Michigan Study of Atherosclerosis (PUUMA) in China, which is a large-scale project designed to study cardiovascular traits in China [22]." . _:174a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8516734/unicode"; rdfs:comment "This study was performed in the Gucheng and Pingguoyuan communities of Shijingshan district in Beijing, China." . _:174b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002413"; "An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population."; "PMID:33693786", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8161516/"; rdfs:comment "The Peking University–University and Michigan of Atherosclerosis (PUUMA) Study included 5257 subjects with hematological trait data." . _:174c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective community-based cohort of 9,540 Han Chinese adults aged 40 and over enrolled in December 2011–April 2012 in the Gucheng and Pingguoyuan communities of Shijingshan district, Beijing, China, by Peking University with the University of Michigan, to study atherosclerosis, blood pressure and other cardiovascular traits."; "PMID:34488438", "PMID:39250516"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:174d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9540; "participants aged 40 or over enrolled December 2011-April 2012"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8516734/unicode"; rdfs:comment "The PUUMA study is a prospective observational cohort study of 9,540 participants age ≥40 years at enrollment between December 2011 and April 2012." . _:174e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PUUMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5948, _:genid-371333f489424440b12a13b9d98ced822608-genid5950; , , ; , ; "GCST90132317"; "A population-based prospective cohort of 63,257 Chinese adults aged 45–74 years from the Hokkien and Cantonese dialect groups living in Singapore, recruited from April 1993 to December 1998 and followed with repeated interviews, to study diet, lifestyle, genetic factors and chronic disease and ageing."; 63257; "SCHS", "Singaporean Chinese Health Study"; ; rdfs:label "Singapore Chinese Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5948 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5950 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:174f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5948; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9158790/fullTextXML"; rdfs:comment "SCHS is a long-term population-based prospective cohort study focused on the dietary, genetic and environmental determinants of cancer and other chronic diseases in Singapore9." . _:17502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5950; "environmental determinants of cancer and other chronic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9158790/fullTextXML"; rdfs:comment "SCHS is a long-term population-based prospective cohort study focused on the dietary, genetic and environmental determinants of cancer and other chronic diseases in Singapore9." . _:17512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9158790/fullTextXML"; rdfs:comment "The Singapore Chinese Health Study (SCHS) is a population-based prospective cohort study of Chinese adults living in Singapore9." . _:17522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132317"; "Genetic associations with healthy ageing among Chinese adults."; "PMID:35927272", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9158790/fullTextXML"; rdfs:comment "The Singapore Chinese Health Study (SCHS) is a population-based prospective cohort study of Chinese adults living in Singapore9." . _:17532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of 63,257 Chinese adults aged 45–74 years from the Hokkien and Cantonese dialect groups living in Singapore, recruited from April 1993 to December 1998 and followed with repeated interviews, to study diet, lifestyle, genetic factors and chronic disease and ageing."; "PMID:35927272"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 63257; "Chinese adults aged 45-74 recruited 1993-1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9158790/fullTextXML"; rdfs:comment "In brief, 63,257 subjects aged between 45 and 74 years were recruited from April 1993 to December 1998." . _:17552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5957, _:genid-371333f489424440b12a13b9d98ced822608-genid5959, _:genid-371333f489424440b12a13b9d98ced822608-genid5961; ; , ; ; "GCST90104596", "PGS004924"; "A prospective cohort of women aged 35–74 living in the United States and Puerto Rico who had never had breast cancer but had a sister diagnosed with it, enrolled from 2003 by the National Institute of Environmental Health Sciences with biological and environmental samples to study environmental and genetic risk factors for breast cancer and other health outcomes in women."; 50884; "SIS", "SISTER", "Sister Study Cohort", "Sisters", "Sisters Study", "The Sister Study"; , ; rdfs:label "Sister Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5957 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5959 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5961 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5957; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29373861+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Sister Study sought a large cohort of women never diagnosed with breast cancer but who had a sister (full or half) diagnosed with breast cancer." . _:17572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5959; "environmental exposure to chemicals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5963586/fullTextXML"; rdfs:comment "The Sister Study was designed to address concerns that not enough was being done to evaluate the impact of widespread environmental exposure to chemicals on trends in breast cancer incidence." . _:17582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5961; "environmental risk factors for breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5963586/fullTextXML"; rdfs:comment "The Sister Study was designed to address concerns that not enough was being done to evaluate the impact of widespread environmental exposure to chemicals on trends in breast cancer incidence." . _:17592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5963586/fullTextXML"; rdfs:comment "The Sister Study is a long-term prospective cohort of women residing in the United States (including Puerto Rico) who have had a sister diagnosed with breast cancer but did not have breast cancer themselves at enrollment." . _:175a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104596"; "Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in women."; "PMID:35274129", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9071229/fullTextXML"; rdfs:comment "The GWAS by Ruth et al. included data from the Generations Study (Swerdlow et al., 2011), Sister Study (Nichols et al., 2015), Nurses’ Health Study (Hankinson et al., 1995), Nurses’ Health Study II (Eliassen et al., 2006) and ALSPAC mothers (Fraser et al., 2013)." . _:175b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004924"; "Polygenic risk score for Parkinson's disease and olfaction among middle-aged to older women."; "PMID:37611509" . _:175c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of women aged 35–74 living in the United States and Puerto Rico who had never had breast cancer but had a sister diagnosed with it, enrolled from 2003 by the National Institute of Environmental Health Sciences with biological and environmental samples to study environmental and genetic risk factors for breast cancer and other health outcomes in women."; "PMID:29373861"; "Claude Fable 5.1 (Anthropic), 2026-09", "GPT-6 (OpenAI Codex), 2026-09" . _:175d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50884; "women who completed baseline activities and were enrolled, 2003-2009"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5963586/fullTextXML"; rdfs:comment "Of the women who signed up, 81.0% (n=50,884) completed required baseline activities and were enrolled; an additional 3,066 who completed some, but not all, of the required baseline activities before the enrollment end date." . _:175e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIS"; . _:175f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SISTER"; . _:17602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sisters"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5971, _:genid-371333f489424440b12a13b9d98ced822608-genid5973, _:genid-371333f489424440b12a13b9d98ced822608-genid5975, _:genid-371333f489424440b12a13b9d98ced822608-genid5977; , ; "GCST90866313"; "A multicentre prospective cohort of more than 1,100 patients newly diagnosed with non-muscle-invasive bladder cancer, recruited in 2014–2021 from 22 hospitals in the Netherlands and followed with questionnaires, diaries, blood and tumour samples and cancer registry data to study how lifestyle habits relate to prognosis and health-related quality of life."; 1512; "UroLife", "UroLife Study", "Urolife"; ; rdfs:label "UroLife study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5971 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5973 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5975 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid5977 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5971; "non-muscle-invasive bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31619424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The UroLife study is a multicentre prospective cohort study among more than 1100 newly diagnosed patients with NMIBC recruited from 22 hospitals in the Netherlands." . _:17622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5973; "fruit and vegetable consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31619424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main aim of this study is to evaluate whether lifestyle habits are related to prognosis and HRQOL in patients with NMIBC." . _:17632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5975; "lifestyle habits"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31619424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main aim of this study is to evaluate whether lifestyle habits are related to prognosis and HRQOL in patients with NMIBC." . _:17642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5977; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31619424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main aim of this study is to evaluate whether lifestyle habits are related to prognosis and HRQOL in patients with NMIBC." . _:17652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31619424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The UroLife study is a multicentre prospective cohort study among more than 1100 newly diagnosed patients with NMIBC recruited from 22 hospitals in the Netherlands." . _:17662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90866313"; "Comprehensive genome-wide association study into multiple recurrence and progression risk in non-muscle invasive bladder cancer."; "PMID:42320430", "https://ars.els-cdn.com/content/image/1-s2.0-S2210776226000724-mmc1.docx"; rdfs:comment "The UroLife study (N=1,212) is a prospective multicenter cohort study conducted in 22 hospitals in the east, south and central parts of The Netherlands." . _:17672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort of more than 1,100 patients newly diagnosed with non-muscle-invasive bladder cancer, recruited in 2014–2021 from 22 hospitals in the Netherlands and followed with questionnaires, diaries, blood and tumour samples and cancer registry data to study how lifestyle habits relate to prognosis and health-related quality of life."; "PMID:31619424"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1512; "invited eligible patients who agreed to participate, 2014-2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11826114/fullTextXML"; rdfs:comment "Of the 3181 invited patients, 2929 met the eligibility criteria, and 1512 (52%) agreed to participate (Figure 1 )." . _:17692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UroLife"; . _:176a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Urolife"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5985; , , ; "GCST90454523"; "A six-week multicentre randomised open-label pharmacogenetic trial cohort of about 3,000 Han Chinese inpatients with schizophrenia in an acute phase, recruited through the Chinese Antipsychotics Pharmacogenomics Consortium of five research centres and their affiliated psychiatric hospitals in China, established in 2010, and randomly assigned to one of six antipsychotic treatments, to identify predictors of antipsychotic efficacy and adverse reactions."; 3067; "CAPOC", "CAPOC trial", "Chinese Antipsychotics Pharmacogenomics Consortium study"; ; rdfs:label "Chinese Antipsychotics Pharmacogenomics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5985 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:176b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5985; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12362978/fullTextXML"; rdfs:comment "The discovery cohort consisted of 3067 patients (2016 participants were reserved after quality control) with schizophrenia in the acute phase and was derived from the Chinese Antipsychotics Pharmacogenomics Consortium (CAPOC) [14]." . _:176c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12362978/fullTextXML"; rdfs:comment "We would like to thank the Chinese Antipsychotics Pharmacogenomics Consortium for assisting in the recruitment of participants (including 5 research centers: Peking University Sixth Hospital, West China Hospital of Sichuan University, the Second Xiangya Hospital of Central South University, Beijing Anding Hospital Affiliated to Capital Medical University, and Beijing Huilongguan Hospital; the Consortium leads 32 psychiatric hospitals in China in total)." . _:176d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454523"; "Genome-wide association study implicates lipid pathway dysfunction in antipsychotic-induced weight gain: multi-ancestry validation."; "PMID:38336841", "https://www.nature.com/articles/s41380-024-02447-2"; rdfs:comment "We also thank the assistance from the Chinese Antipsychotics Pharmacogenomics Consortium and the research assistant from Peking University Sixth Hospital (Xuan Lu)." . _:176e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A six-week multicentre randomised open-label pharmacogenetic trial cohort of about 3,000 Han Chinese inpatients with schizophrenia in an acute phase, recruited through the Chinese Antipsychotics Pharmacogenomics Consortium of five research centres and their affiliated psychiatric hospitals in China, established in 2010, and randomly assigned to one of six antipsychotic treatments, to identify predictors of antipsychotic efficacy and adverse reactions."; "PMID:34093281", "PMID:37269009", "PMID:40826483"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:176f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3067; "acute-phase schizophrenia patients from the CAPOC trial in a 2025 GWAS discovery cohort"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12362978/fullTextXML"; rdfs:comment "The discovery cohort consisted of 3067 patients (2016 participants were reserved after quality control) with schizophrenia in the acute phase and was derived from the Chinese Antipsychotics Pharmacogenomics Consortium (CAPOC) [14]." . _:17702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPOC"; . a owl:NamedIndividual, ; , ; ; "GCST90276149"; "A population-based cohort of about 1,000 adults from the mainland city of Split, the second-largest city in Croatia, recruited within the 10,001 Dalmatians biobank project as an urban counterpart to the isolated island cohorts of Vis and Korčula, for studies of the genetic, environmental and social determinants of health and disease."; 1012; "CROATIA-SPLIT", "CROATIA-Split", "CROATIA_Split", "Split sub-cohort"; ; rdfs:label "CROATIA-Split Study"@en . _:17712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6016867/fullTextXML"; rdfs:comment "This study was performed on samples from three Croatian populations: from the Dalmatian islands of Korcula and Vis and the mainland city of Split, within the large-scale project of “10,001 Dalmatians” (Rudan et al., 2009)." . _:17722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90276149"; "Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk."; "PMID:37108169", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10138356/fullTextXML"; rdfs:comment "Here, we used the data from three sub-cohorts for which we had bacterial and viral infections disease data—Korčula (N = 2833), Vis (N = 1039) and Split (N = 1012)." . _:17732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of about 1,000 adults from the mainland city of Split, the second-largest city in Croatia, recruited within the 10,001 Dalmatians biobank project as an urban counterpart to the isolated island cohorts of Vis and Korčula, for studies of the genetic, environmental and social determinants of health and disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10138356/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1012; "Split sub-cohort participants of the 10,001 Dalmatians biobank"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10138356/fullTextXML"; rdfs:comment "Here, we used the data from three sub-cohorts for which we had bacterial and viral infections disease data—Korčula (N = 2833), Vis (N = 1039) and Split (N = 1012)." . _:17752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CROATIA-SPLIT"; . _:17762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CROATIA-Split"; . _:17772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CROATIA_Split"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid5999, _:genid-371333f489424440b12a13b9d98ced822608-genid6001, _:genid-371333f489424440b12a13b9d98ced822608-genid6003; , ; "GCST90131443"; "A French case-control and family-based cohort of asthma cases recruited in chest clinics in Grenoble, Lyon, Marseille, Montpellier and Paris, their first-degree relatives and population-based controls, enrolled in 1991–1995 and followed up in 2003–2007 and later, to study the genetic and environmental causes of asthma, bronchial hyperresponsiveness and atopy."; 388; 415; 2121; "EGEA", "Epidemiological study of Genetics and Environment of Asthma", "Epidemiological study on the Genetics and Environment of Asthma, bronchial hyperresponsiveness and atopy"; ; rdfs:label "Epidemiological study on the Genetics and Environment of Asthma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid5999 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6001 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6003 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid5999; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9137810/fullTextXML"; rdfs:comment "EGEA is a French cohort study based on an initial group of asthma cases recruited in five chest clinics from Grenoble, Lyon, Marseille, Montpellier, and Paris, along with their first-degree relatives, and population-based controls (EGEA1, 1991–1995)." . _:17792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6001; "tobacco smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9137810/fullTextXML"; rdfs:comment "At each survey, all participants answered standardised and validated questionnaires to identify asthma and to determine respiratory and allergic symptoms, treatments, environmental exposures, and lifestyle characteristics, including tobacco smoking status." . _:177a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6003; "environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9137810/fullTextXML"; rdfs:comment "At each survey, all participants answered standardised and validated questionnaires to identify asthma and to determine respiratory and allergic symptoms, treatments, environmental exposures, and lifestyle characteristics, including tobacco smoking status." . _:177b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9137810/fullTextXML"; rdfs:comment "EGEA is a French cohort study based on an initial group of asthma cases recruited in five chest clinics from Grenoble, Lyon, Marseille, Montpellier, and Paris, along with their first-degree relatives, and population-based controls (EGEA1, 1991–1995)." . _:177c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90131443"; "Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study."; "PMID:35624665", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9137810/fullTextXML"; rdfs:comment "We conducted a genome-wide association study (GWAS) of the FlOPs level in 1216 adults from the case-control and family-based EGEA study (mean age 43 years old, 51% women, and 23% current smokers) to identify genetic variants associated with FlOPs." . _:177d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French case-control and family-based cohort of asthma cases recruited in chest clinics in Grenoble, Lyon, Marseille, Montpellier and Paris, their first-degree relatives and population-based controls, enrolled in 1991–1995 and followed up in 2003–2007 and later, to study the genetic and environmental causes of asthma, bronchial hyperresponsiveness and atopy."; "PMID:35624665", "PMID:8590334"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:177e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 388; "total participants in the EGEA bioresource (all surveys), 2017"; "https://openbioresources.metajnl.com/articles/10.5334/ojb.24"; rdfs:comment "Total number participants: 2,121" . _:177f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 415; "total participants in the EGEA bioresource (all surveys), 2017"; "https://openbioresources.metajnl.com/articles/10.5334/ojb.24"; rdfs:comment "Total number participants: 2,121" . _:17802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2121; "total participants in the EGEA bioresource (all surveys), 2017"; "https://openbioresources.metajnl.com/articles/10.5334/ojb.24"; rdfs:comment "Total number participants: 2,121" . _:17812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGEA"; . a owl:NamedIndividual, ; , ; ; "GCST90267392", "PGS000741"; "A population-based cohort of 9,940 adults aged 50–75 recruited by their general practitioners during routine health check-ups in Saarland, Germany, between 2000 and 2002 and followed every two to three years, run by the German Cancer Research Center (DKFZ) in Heidelberg to study the prevention, early detection and treatment of chronic diseases in older people."; 9940; "ESTHER", "ESTHER II/VERDI", "ESTHER cohort", "ESTHER study", "ESTHER/VERDI", "ESTHER_VERDI", "Epidemiological Investigations on Chances of Preventing Recognizing Early and Optimally Treating Chronic Diseases in an Elderly Population", "Epidemiological investigations on chances of preventing, recognizing early and optimally treating chronic diseases in an elderly population", "Epidemiologische Studie zu Chancen der Verhütung, Früherkennung und optimierten Therapie chronischer Erkrankungen in der älteren Bevölkerung; Verlauf der diagnotischen Abklärung bei Krebspatienten", "SAAR"; , ; rdfs:label "Epidemiologische Studie zu Chancen der Verhütung, Früherkennung und optimierten Therapie chronischer Erkrankungen in der älteren Bevölkerung"@en . _:17822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12992613/fullTextXML"; rdfs:comment "The study population was drawn from the ESTHER cohort, an ongoing population-based cohort study conducted in Saarland, Germany." . _:17832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9992283/"; rdfs:comment "ESTHER/VERDI. This work and all authors were supported by grants from the Baden-Württemberg Ministry of Science, Research and Arts and the German Cancer Aid." . _:17842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:17852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 9,940 adults aged 50–75 recruited by their general practitioners during routine health check-ups in Saarland, Germany, between 2000 and 2002 and followed every two to three years, run by the German Cancer Research Center (DKFZ) in Heidelberg to study the prevention, early detection and treatment of chronic diseases in older people."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12992613/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9940; "adults aged 50-75 recruited by GPs, July 2000-December 2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12992613/fullTextXML"; rdfs:comment "Briefly, 9,940 individuals aged 50–75 years were recruited by their general practitioners (GPs) during routine health screenings between July 2000 and December 2002, and were followed up every two to three years thereafter." . _:17872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ESTHER"; . _:17882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ESTHER_VERDI"; . _:17892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6020; , ; "GCST90129599"; "A collection of Alzheimer's disease cases and dementia-free controls from Sweden that combines cases diagnosed in memory clinics in different parts of Sweden or identified in two population-based studies in Gothenburg, the Prospective Population Study of Women and the Gothenburg Birth Cohort Studies (H70, H85 and 95+), with controls from those Gothenburg population studies, genotyped for genome-wide association studies of Alzheimer's disease and its biomarkers."; "The acronym TGS also denotes MrOS Gothenburg (COHO:0000892); this term is Gothenburg H70 Birth Cohort Studies and Clinical AD Sweden."@en; 712; 2523; "GH70", "Gothenburg H70 Birth Cohort Studies and Clinical AD", "Gothenburg H70 Birth Cohort Studies and Clinical AD from Sweden", "Gothenburg H70 Birth Cohort studies and clinical AD samples from Sweden", "TGS"; ; rdfs:label "Gothenburg H70 Birth Cohort Studies and Clinical AD Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6020 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:178a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6020; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "The Gothenburg H70 Birth Cohort Studies and Clinical AD from Sweden (Gothenburg) AD cases originate from Sweden and were either collected in memory clinics (in different parts of Sweden) or as a part of two population-based epidemiological studies in Gothenburg" . _:178b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "The Gothenburg H70 Birth Cohort Studies and Clinical AD from Sweden (Gothenburg) AD cases originate from Sweden and were either collected in memory clinics (in different parts of Sweden) or as a part of two population-based epidemiological studies in Gothenburg; the Prospective Population Study of Women (PPSW) and the Gothenburg Birth Cohort Studies (H70, H85 and 95+), described in detail previously100–103 . Controls originate from the Gothenburg Birth Cohort Studies and PPSW." . _:178c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129599"; "Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers."; "PMID:36066633", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9547780/fullTextXML"; rdfs:comment "For the Gothenburg H70 Birth Cohort studies and clinical AD samples from Sweden, the QC and imputation procedures were described elsewhere [48]." . _:178d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of Alzheimer's disease cases and dementia-free controls from Sweden that combines cases diagnosed in memory clinics in different parts of Sweden or identified in two population-based studies in Gothenburg, the Prospective Population Study of Women and the Gothenburg Birth Cohort Studies (H70, H85 and 95+), with controls from those Gothenburg population studies, genotyped for genome-wide association studies of Alzheimer's disease and its biomarkers."; "PMID:36066633", "PMID:42237039"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:178e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 712; "AD cases and controls in the genotyped Gothenburg dataset (2021 GWAS); no combined total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00921-z/MediaObjects/41588_2021_921_MOESM1_ESM.pdf"; rdfs:comment "The Gothenburg H70 Birth Cohort Studies and Clinical AD from Sweden (Gothenburg) dataset (712 cases, 2523 controls) was used as the independent test set because it was the dataset with the largest number of cases of the available genotype-level data." . _:178f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2523; "AD cases and controls in the genotyped Gothenburg dataset (2021 GWAS); no combined total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00921-z/MediaObjects/41588_2021_921_MOESM1_ESM.pdf"; rdfs:comment "The Gothenburg H70 Birth Cohort Studies and Clinical AD from Sweden (Gothenburg) dataset (712 cases, 2523 controls) was used as the independent test set because it was the dataset with the largest number of cases of the available genotype-level data." . _:17902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GH70"; . _:17912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6029; , ; ; ; "GCST90128530"; "The Northern California site of the Breast Cancer Family Registry, which from 1995 enrolled about 4000 women with incident breast cancer, ascertained through the Greater Bay Area Cancer Registry in the San Francisco Bay Area with oversampling of cases with indicators of increased genetic susceptibility, together with their family members and random-digit-dialled population controls, to study the genetic epidemiology of breast cancer."; 4000; "BCFR-NC", "BCFR-NCA", "NC-BCFR", "Northern California site of the Breast Cancer Family Registry"; ; rdfs:label "Northern California Breast Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6029 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6029; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Northern California Breast Cancer Family Registry (NC-BCFR) was initiated in 1995 and enrolled ~4000 women with incident breast cancer and family members (John et al., 2019)." . _:17932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Population-based families were recruited from the Greater San Francisco Bay area, California, USA, by the Northern California Cancer Center; from the province of Ontario, Canada, by Cancer Care Ontario; and from the metropolitan areas of Melbourne and Sydney, Australia, by the University of Melbourne and the New South Wales Cancer Council." . _:17942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4204111/fullTextXML"; rdfs:comment "We initially performed a GWAS of Latina women from the San Francisco Bay Area including 977 cases and 722 controls, from the San Francisco Bay Area Breast Cancer Study (SFBCS), the Northern California site of the Breast Cancer Family Registry (NC-BCFR) and the Genetics of Asthma in Latino Americans (GALA1, controls)." . _:17952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Northern California Breast Cancer Family Registry (NC-BCFR) was initiated in 1995 and enrolled ~4000 women with incident breast cancer and family members (John et al., 2019)." . _:17962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Northern California site of the Breast Cancer Family Registry, which from 1995 enrolled about 4000 women with incident breast cancer, ascertained through the Greater Bay Area Cancer Registry in the San Francisco Bay Area with oversampling of cases with indicators of increased genetic susceptibility, together with their family members and random-digit-dialled population controls, to study the genetic epidemiology of breast cancer."; "PMID:15217505", "PMID:25327703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4000; "women with incident breast cancer (and family members) enrolled from 1995, stated as approximate"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles" . _:17982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-NC"; . _:17992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-NCA"; . _:179a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NC-BCFR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6039; , , , , , ; , , , , ; ; "PMID:15217505"; "A breast cancer family registry established in 1995 with US National Cancer Institute support as a collaboration of six academic and research institutions in the USA, Canada and Australia, enrolling population-based families (through cancer registries) and clinic-based families with common questionnaires, biospecimen protocols and pathology review, to support studies of the genetic epidemiology of breast cancer."; 50300; "BCFR"; rdfs:label "Breast Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6039 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:179b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6039; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15217505+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Epidemiology questionnaire data are available for 6779 affected probands (with a personal history of breast cancer), 4116 unaffected probands, and 16,526 relatives with or without a personal history of breast or ovarian cancer." . _:179c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "The Breast Cancer Family Registry was established in 1995, with six participating sites from the USA, Canada, and Australia" . _:179d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:15217505"; "The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer."; "PMID:15217505", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "The Breast Cancer Family Registry is a collaboration of six academic and research institutions and their medical affiliates located in the USA, Canada, and Australia." . _:179e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer family registry established in 1995 with US National Cancer Institute support as a collaboration of six academic and research institutions in the USA, Canada and Australia, enrolling population-based families (through cancer registries) and clinic-based families with common questionnaires, biospecimen protocols and pathology review, to support studies of the genetic epidemiology of breast cancer."; "PMID:15217505"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:179f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50300; "probands and relatives enrolled 1996-2003"; "https://europepmc.org/api/getPdf?pmcid=PMC468645"; rdfs:comment "All probands and relativesa 9116 30,086 2834 8264 50,300" . _:17a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6046; , ; ; "GCST90708782"; "A family study that recruited 992 multiplex late-onset Alzheimer's disease families, with at least two living affected members, together with unrelated neurologically evaluated controls, from throughout the United States, for genetic studies of late-onset Alzheimer's disease."; 9682; "LOAD", "Late Onset Alzheimer's Disease Family Study", "Late Onset Alzheimers Disease Family Study", "NIA-AD FBS", "NIA-AD Family Based Study", "NIA-LOAD", "NIA-LOAD Family Study", "NIALOAD", "National Institute of Aging-Late Onset Alzheimer's Disease Family Study", "National Institute on Aging - Late Onset Alzheimers Disease", "National Institute on Aging Alzheimer's disease Family Birth Study", "National Institute on Aging Genetics Initiative for Late-Onset Alzheimer's Disease", "National Institute on Aging Late-Onset Alzheimer's Disease", "National Institute on Aging Late-Onset Alzheimer's Disease Family Study", "National Institute on Aging-Late-Onset Alzheimer Disease Study"; ; rdfs:label "National Institute on Aging Late Onset Alzheimer's Disease Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6046 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6046; "late-onset Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3270040/fullTextXML"; rdfs:comment "The NIA-LOAD Family Study recruited 992 multiplex LOAD families, with at least two living affected individuals, from throughout the United States." . _:17a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3270040/fullTextXML"; rdfs:comment "The NIA-LOAD Family Study recruited 992 multiplex LOAD families, with at least two living affected individuals, from throughout the United States." . _:17a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90708782"; "Genetic associations with psychosis and affective disturbance in Alzheimer's disease."; "PMID:38784964", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114588/fullTextXML"; rdfs:comment "the Fundació ACE Barcelona Alzheimer Treatment and Research Center (ACE/GR@ACE), a Consortium of National Institute on Aging Alzheimer Disease Centers (ADC), Eli Lilly and Company (LILLY), the Norwegian, Exeter and King's College Consortium for Genetics of Neuropsychiatric Symptoms in Dementia (NEXGENS), the National Institute on Aging's Late Onset Alzheimer's Disease Family Study (NIA‐LOAD), and the University of Pittsburgh Alzheimer Disease Research Center (PITT ADRC)." . _:17a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study that recruited 992 multiplex late-onset Alzheimer's disease families, with at least two living affected members, together with unrelated neurologically evaluated controls, from throughout the United States, for genetic studies of late-onset Alzheimer's disease."; "PMID:21379329"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9682; "family members with data, from 1756 families (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9250549/fullTextXML"; rdfs:comment "We recruited 1756 families and acquired data from 9682 family members." . _:17a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LOAD"; . _:17a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIA-AD FBS"; . _:17a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIA-LOAD"; . _:17a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIALOAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6056; , ; "GCST90245988"; "A community-based longitudinal cohort of 3,298 stroke-free, predominantly Hispanic, Black and White adults aged 40 or older living in northern Manhattan, New York City, recruited by random-digit dialling in 1993–2001 and followed for stroke, vascular risk factors, brain MRI markers and cognitive outcomes."; 3298; "NOMAS"; ; rdfs:label "Northern Manhattan Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6056 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6056; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11757223/fullTextXML"; rdfs:comment "NOMAS is a racially/ethnically diverse prospective cohort with 3298 stroke-free participants enrolled between 1993 and 2001." . _:17ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11757223/fullTextXML"; rdfs:comment "This hypothesis was explored in a population-based cohort study, the Northern Manhattan Study (NOMAS), a multiethnic urban sample of individuals living in New York City." . _:17ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90245988"; "Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study."; "PMID:36658081", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36658081+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a GWAS on a composite measure of executive function that included measures of mental flexibility and reasoning using data from the Northern Manhattan Study, a racially and ethnically diverse cohort (N = 1077, 69% Hispanic, 17% non-Hispanic Black and 14% non-Hispanic White)." . _:17ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based longitudinal cohort of 3,298 stroke-free, predominantly Hispanic, Black and White adults aged 40 or older living in northern Manhattan, New York City, recruited by random-digit dialling in 1993–2001 and followed for stroke, vascular risk factors, brain MRI markers and cognitive outcomes."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13482911/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3298; "stroke-free adults enrolled 1993-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13482911/fullTextXML"; rdfs:comment "NOMAS is a community‐based longitudinal cohort study of 3298 urban‐dwelling adults 40 years of age or older with a household telephone at the baseline visit." . _:17af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NOMAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6063; , , , , , , , , , , , ; "GCST90103973"; "A multiethnic family-based collection of people with nonsyndromic orofacial clefts, their unaffected relatives and unaffected controls, recruited by the University of Pittsburgh through cleft centres in the United States and Puerto Rico and in Argentina, the Philippines, Colombia, Guatemala and Hungary to study the genetics of orofacial clefts and related dental traits."; 12000; "POFC", "Pitt-OFC", "Pittsburgh Orofacial Cleft", "Pittsburgh Orofacial Cleft multiethnic study", "Pittsburgh Orofacial Clefts Multiethnic study", "Pittsburgh Orofacial Clefts Study"; ; rdfs:label "Pittsburgh Orofacial Cleft Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6063 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6063; "orofacial clefts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "The POFC study populations were recruited from multiple cleft centers in the USA, including Colorado, Iowa, Pennsylvania, Texas, and Puerto Rico, and internationally, from Argentina, the Philippines, Colombia, Guatemala, and Hungary for the purpose of studying orofacial clefts." . _:17b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "The POFC study populations were recruited from multiple cleft centers in the USA, including Colorado, Iowa, Pennsylvania, Texas, and Puerto Rico, and internationally, from Argentina, the Philippines, Colombia, Guatemala, and Hungary for the purpose of studying orofacial clefts." . _:17b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103973"; "Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts."; "PMID:35172313", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "The participants for this study included individuals aged 7 years and older recruited through four studies: the Pittsburgh Orofacial Cleft Study (POFC, n = 3,579); the Center for Oral Health Research in Appalachia (COHRA1, n = 1,837;" . _:17b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiethnic family-based collection of people with nonsyndromic orofacial clefts, their unaffected relatives and unaffected controls, recruited by the University of Pittsburgh through cleft centres in the United States and Puerto Rico and in Argentina, the Philippines, Colombia, Guatemala and Hungary to study the genetics of orofacial clefts and related dental traits."; "PMID:35172313"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12000; "participants in families (approximate)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9086172/unicode"; rdfs:comment "The Pitt-OFC resource is a rich collection of nsOFC families across multiple racial/ethnic groups, including simplex, multiplex, and extended pedigrees (~12,000 participants) with precise and detailed information on the types of nsOFC observed within multiple generations of the relatives of the probands." . _:17b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POFC"; . _:17b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pitt-OFC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6071; , ; "GCST90565869"; "A cohort of 20,689 adults in Australia who had been diagnosed with depression, recruited through the Australian Department of Human Services and a media campaign, who completed online questionnaires on psychiatric history and antidepressant response and provided saliva DNA, to study genetic and environmental risk factors for depression and antidepressant response."; 20689; "AGDS"; ; rdfs:label "Australian Genetics of Depression Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6071 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6071; "depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7259831/fullTextXML"; rdfs:comment "The Australian Genetics of Depression study was established to recruit a large cohort of individuals who have been diagnosed with depression at some point in their lifetime." . _:17b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32461290+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 20 689 participants were recruited through the Australian Department of Human Services and a media campaign, 75% of whom were female." . _:17b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565869"; "Sex-stratified genome-wide association meta-analysis of major depressive disorder."; "PMID:40858613", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12381276/fullTextXML"; rdfs:comment "The Australian Genetics of Depression Study (AGDS) in Australia53 (Female: cases = 10,406, controls = 7147;" . _:17ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 20,689 adults in Australia who had been diagnosed with depression, recruited through the Australian Department of Human Services and a media campaign, who completed online questionnaires on psychiatric history and antidepressant response and provided saliva DNA, to study genetic and environmental risk factors for depression and antidepressant response."; "PMID:32461290"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20689; "participants who returned the questionnaire (2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7259831/fullTextXML"; rdfs:comment "As of 3 September 2018, questionnaire responses had been received from 20 689 participants, 75% of whom were female." . _:17bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGDS"; . a owl:NamedIndividual, ; , ; ; "GCST90014287"; "A sub-study of the Avon Longitudinal Study of Parents and Children comprising 1,018 mother-offspring pairs with genome-wide DNA methylation profiled at birth, in childhood and in adolescence for the children and at two time points for the mothers, established as an openly accessible resource to study the determinants and consequences of epigenetic variation."; 1018; "ARIES"; ; rdfs:label "Accessible Resource for Integrated Epigenomic Studies"@en . _:17bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5593097/unicode"; rdfs:comment "It recruited more than 14 000 pregnant women in the former county of Avon, who were due to give birth between April 1991 and December 1992." . _:17be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5593097/unicode"; rdfs:comment "ARIES is a sub-study of the Avon Longitudinal Study of Parents and Children (ALSPAC)." . _:17bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014287"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/fullTextXML"; rdfs:comment "The maximum prediction for a single cohort was 4.21% for PAI1 levels in ARIES." . _:17c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-study of the Avon Longitudinal Study of Parents and Children comprising 1,018 mother-offspring pairs with genome-wide DNA methylation profiled at birth, in childhood and in adolescence for the children and at two time points for the mothers, established as an openly accessible resource to study the determinants and consequences of epigenetic variation."; "PMID:25991711"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1018; "mother-offspring pairs (pairs, not individuals), 2014"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5593097/unicode"; rdfs:comment "A total of 1018 mother-child pairs have been profiled (v.1 data release 2014) at each of the five time points indicated, using the Illumina Infinium HumanMethylation450K BeadChip array." . _:17c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARIES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6084; "GCST90860773"; "An international collaborative initiative that pooled individual-level and aggregate genetic data on 12,852 people with irritable bowel syndrome and 139,981 controls from multiple studies for genome-wide association studies of irritable bowel syndrome."; 12852; 139981; "Bellygenes", "Bellygenes Initiative", "the Bellygenes initiative"; ; rdfs:label "Bellygenes initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6084 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6084; "irritable bowel syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8571093/fullTextXML"; rdfs:comment "Our discovery cohort combined cases of IBS identified in UKB with cases from the Bellygenes initiative." . _:17c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90860773"; "Large-scale meta- and cross-trait analyses uncover shared genetic risk factors for IBS and psychiatric disorders."; "PMID:42221328", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216503/fullTextXML"; rdfs:comment "This dataset was derived from a prior meta-analysis (12) that integrated two independent cohorts: the UK Biobank (UKB; 40,548 cases and 293,220) and the Bellygenes initiative (12,852 cases and 139,981 controls)." . _:17c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaborative initiative that pooled individual-level and aggregate genetic data on 12,852 people with irritable bowel syndrome and 139,981 controls from multiple studies for genome-wide association studies of irritable bowel syndrome."; "PMID:34741163"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12852; "IBS cases and controls in the 2021 GWAS meta-analysis (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8571093/fullTextXML"; rdfs:comment "This resulted from pooling IBS cases across all case definitions to maximize power, in a meta-analysis of data from UKB (40,548 cases and 293,220 controls; Supplementary Tables 1 and 2) and the international collaborative Bellygenes initiative (12,852 cases and 139,981 controls; Methods and Supplementary Table 9)." . _:17c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 139981; "IBS cases and controls in the 2021 GWAS meta-analysis (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8571093/fullTextXML"; rdfs:comment "This resulted from pooling IBS cases across all case definitions to maximize power, in a meta-analysis of data from UKB (40,548 cases and 293,220 controls; Supplementary Tables 1 and 2) and the international collaborative Bellygenes initiative (12,852 cases and 139,981 controls; Methods and Supplementary Table 9)." . _:17c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bellygenes"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6091, _:genid-371333f489424440b12a13b9d98ced822608-genid6093; , ; "GCST90559231"; "A cohort of people of European ancestry with and without age-related macular degeneration, recruited, imaged with optical coherence tomography and genotyped by the Centre for Eye Research Australia, used in genetic studies of age-related macular degeneration and reticular pseudodrusen."; 683; 190; 873; "CERA", "Centre for Eye Research Australia cohort"; ; rdfs:label "CERA cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6091 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6093 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6091; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "short-read whole genome sequencing (WGS) was conducted in a distinct AMD+ cohort (from the Centre for Eye Research Australia, CERA) of European ancestry and unrelated individuals with extreme RPD (AMD+/RPD++), defined as having extensive and predominantly RPD deposits." . _:17ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6093; "reticular pseudodrusen"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "short-read whole genome sequencing (WGS) was conducted in a distinct AMD+ cohort (from the Centre for Eye Research Australia, CERA) of European ancestry and unrelated individuals with extreme RPD (AMD+/RPD++), defined as having extensive and predominantly RPD deposits." . _:17cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "To further investigate the RPD risk haplotype and examine the clinical importance of the identified risk region, short-read whole genome sequencing (WGS) was conducted in a distinct AMD+ cohort (from the Centre for Eye Research Australia, CERA) of European ancestry and unrelated individuals with extreme RPD (AMD+/RPD++), defined as having extensive and predominantly RPD deposits." . _:17cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559231"; "HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement."; "PMID:41361163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "To further investigate the RPD risk haplotype and examine the clinical importance of the identified risk region, short-read whole genome sequencing (WGS) was conducted in a distinct AMD+ cohort (from the Centre for Eye Research Australia, CERA) of European ancestry and unrelated individuals with extreme RPD (AMD+/RPD++), defined as having extensive and predominantly RPD deposits." . _:17cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people of European ancestry with and without age-related macular degeneration, recruited, imaged with optical coherence tomography and genotyped by the Centre for Eye Research Australia, used in genetic studies of age-related macular degeneration and reticular pseudodrusen."; "PMID:41361163"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 683; "analysed subset: AMD+ and AMD- participants after QC in the 2025 RPD GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-65903-9/MediaObjects/41467_2025_65903_MOESM1_ESM.pdf"; rdfs:comment "CERA 74.4 311 (35.62%) 306 (44.80%) 377 (53.20%) 683 (78.24%) 190 (21.76%) 873" . _:17cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 190; "analysed subset: AMD+ and AMD- participants after QC in the 2025 RPD GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-65903-9/MediaObjects/41467_2025_65903_MOESM1_ESM.pdf"; rdfs:comment "CERA 74.4 311 (35.62%) 306 (44.80%) 377 (53.20%) 683 (78.24%) 190 (21.76%) 873" . _:17d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 873; "analysed subset: AMD+ and AMD- participants after QC in the 2025 RPD GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-65903-9/MediaObjects/41467_2025_65903_MOESM1_ESM.pdf"; rdfs:comment "CERA 74.4 311 (35.62%) 306 (44.80%) 377 (53.20%) 683 (78.24%) 190 (21.76%) 873" . _:17d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CERA"; . a owl:NamedIndividual, ; ; , ; "GCST90705036"; "A biorepository of blood samples from more than 60,000 allogeneic haematopoietic cell transplant recipients and their related or unrelated donors or cord blood units, held by the Center for International Blood and Marrow Transplant Research (a collaboration of the Medical College of Wisconsin and NMDP) and linked to validated clinical outcome data in the CIBMTR Research Database, for research on transplant outcomes."; "CIBMTR Biorepository", "CIBMTR Research Sample Repository", "CIBMTR-NMDP", "CIBMTR/NMDP Research Sample Repository", "NMDP/Be The Match Research Sample Repository"; ; rdfs:label "Center for International Blood and Marrow Transplant Research - National Marrow Donor Program Research Sample Repository"@en . _:17d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10396966/fullTextXML"; rdfs:comment "HLA-genotyped PBMCs from the USA were stored in the National Marrow Donor Program (NMDP)/Be The Match Research Sample Repository (ClinicalTrials.gov protocol NCT04920474) that had been collected from healthy donors before the start of the COVID-19 pandemic." . _:17d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90705036"; "Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome."; "PMID:41748071", "https://pmc.ncbi.nlm.nih.gov/articles/PMC13065301/"; rdfs:comment "Discovery controls include: 1) 1054 adults from the Center for International Blood and Marrow Transplant Research (CIBMTR)/National Marrow Donor Program (NMDP) Research Sample Repository and Duke GKD study controls." . _:17d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository of blood samples from more than 60,000 allogeneic haematopoietic cell transplant recipients and their related or unrelated donors or cord blood units, held by the Center for International Blood and Marrow Transplant Research (a collaboration of the Medical College of Wisconsin and NMDP) and linked to validated clinical outcome data in the CIBMTR Research Database, for research on transplant outcomes."; "https://cibmtr.org/CIBMTR/Resources/Biorepository-Inventories"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIBMTR-NMDP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6106; , ; ; "GCST90270129"; "A French multicentre longitudinal cohort of patients with early Parkinson's disease (disease duration of two years or less at recruitment) recruited from clinics in France and followed annually with clinical assessments and genotyping, supported by Assistance Publique Hôpitaux de Paris and registered as NCT01564992."; 426; "DIGPD", "DIGPD cohort", "DIGPD study", "Drug Interaction with Genes in Parkinson's disease"; ; rdfs:label "Drug Interaction With Genes in Parkinson's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6106 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6106; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9252337/fullTextXML"; rdfs:comment "DIGPD is a French multicenter longitudinal cohort with annual follow-up of PD patients [5]." . _:17d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9252337/fullTextXML"; rdfs:comment "DIGPD is a French multicenter longitudinal cohort with annual follow-up of PD patients [5]." . _:17d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270129"; "Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia."; "PMID:36348503", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10151192/fullTextXML"; rdfs:comment "Parkinson’s Disease (AMP-PD v2.5, www.amp-pd.org), which consists of harmonized data from multiple cohorts,21 and Drug Interaction With Genes in Parkinson's Disease (DIGPD, clinicaltrials.gov/ct2/show/NCT01564992), comprising a total of 3923 participants after clinical and genetic data cleaning (Supplementary Fig. 1 and Table 1)." . _:17d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French multicentre longitudinal cohort of patients with early Parkinson's disease (disease duration of two years or less at recruitment) recruited from clinics in France and followed annually with clinical assessments and genotyping, supported by Assistance Publique Hôpitaux de Paris and registered as NCT01564992."; "PMID:35813487"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 426; "patients with PD recruited May 2009 - July 2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6059034/"; rdfs:comment "Of 426 patients, we excluded 11 who developed atypical parkinsonism (4 had ICDs) and 4 with missing covariates and retained 411 for the analyses (40.6% women; mean age 62.3 years, SD 9.8 years): 63.8% of the patients attended ≥4 assessments, 28.7% attended 2 or 3 assessments, and 7.5% attended the baseline assessment only." . _:17db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIGPD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6113, _:genid-371333f489424440b12a13b9d98ced822608-genid6115, _:genid-371333f489424440b12a13b9d98ced822608-genid6117; , ; "GCST90705036"; "A research collection of patients with kidney disease, including children and young adults with nephrotic syndrome and focal segmental glomerulosclerosis, referred from Duke University and collaborating centres to Duke University's genetics of kidney disease research program in Durham, North Carolina, for genetic studies."; 2100; "Duke genetics of kidney disease research program", "Duke_GKD"; ; rdfs:label "Duke Genetics of Kidney Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6113 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6115 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6117 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6113; "kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4581382/fullTextXML"; rdfs:comment "We selected all individuals with early disease onset (<21 years) and a diagnosis of FSGS and/or SRNS referred to us for inclusion in our genetics of kidney disease research program." . _:17dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6115; "nephrotic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4581382/fullTextXML"; rdfs:comment "We selected all individuals with early disease onset (<21 years) and a diagnosis of FSGS and/or SRNS referred to us for inclusion in our genetics of kidney disease research program." . _:17de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6117; "focal segmental glomerulosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4581382/fullTextXML"; rdfs:comment "We selected all individuals with early disease onset (<21 years) and a diagnosis of FSGS and/or SRNS referred to us for inclusion in our genetics of kidney disease research program." . _:17df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13065301/"; rdfs:comment "Institutional Review Board approval was obtained from Duke University Medical Center (Durham, NC, USA) and all collaborating institutions." . _:17e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90705036"; "Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome."; "PMID:41748071", "https://pmc.ncbi.nlm.nih.gov/articles/PMC13065301/"; rdfs:comment "Discovery has 994 multi-ancestry NS cases enrolled in the Duke Genetics of Kidney Disease (Duke GKD; Pro00014951) and Genomics of Nephrotic Syndrome studies (Pro00106061; Figure 1)." . _:17e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research collection of patients with kidney disease, including children and young adults with nephrotic syndrome and focal segmental glomerulosclerosis, referred from Duke University and collaborating centres to Duke University's genetics of kidney disease research program in Durham, North Carolina, for genetic studies."; "PMID:26413278"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2100; "patients and family members enrolled (stated as 'over 2100', a lower bound), 2017"; "https://web.archive.org/web/20240605222134/https://dmpi.duke.edu/sites/default/files/2021-04/GKD_newsletter%202017.pdf" . _:17e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duke_GKD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6124; , , ; ; "GCST90559231"; "A multicentre prospective epidemiological study enrolling patients with age-related macular degeneration and healthy control individuals aged 55 years or over at the ophthalmology departments of University Hospital Cologne, Germany, and Radboud University Medical Center, Nijmegen, the Netherlands, used to study genetic and non-genetic risk factors for age-related macular degeneration."; 2783; "EUGENDA", "EUGENDA cohort", "EUGENDA study"; ; rdfs:label "European Genetic Database"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6124 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6124; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8763662/fullTextXML"; rdfs:comment "EUGENDA is a multicenter prospective epidemiological study enrolling patients with AMD, as well as healthy control individuals ≥ 55 years of age" . _:17e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8763662/fullTextXML"; rdfs:comment "EUGENDA is a multicenter prospective epidemiological study enrolling patients with AMD, as well as healthy control individuals ≥ 55 years of age (Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; and Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands)." . _:17e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559231"; "HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement."; "PMID:41361163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/supplementaryFiles"; rdfs:comment "EUGENDA Ethics committees of University Hospital Cologne, Germany and Nijmegen, Netherlands Approved 07-030" . _:17e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective epidemiological study enrolling patients with age-related macular degeneration and healthy control individuals aged 55 years or over at the ophthalmology departments of University Hospital Cologne, Germany, and Radboud University Medical Center, Nijmegen, the Netherlands, used to study genetic and non-genetic risk factors for age-related macular degeneration."; "PMID:35136347"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2783; "individuals available in EUGENDA for a 2021 imaging analysis (possibly a subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8763662/fullTextXML"; rdfs:comment "Out of 2,783 individuals available in the EUGENDA cohort at the time of analysis for this study, 64 cases were excluded because of insufficient image quality and confounding macular or retinal diseases." . _:17e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EUGENDA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6131, _:genid-371333f489424440b12a13b9d98ced822608-genid6133; , ; "GCST90841457"; "A Canadian longitudinal birth cohort of about 850 families (mother, father, newborn and eldest sibling) recruited during pregnancy at three hospitals in Ontario between 2002 and 2009, followed to study prenatal, early-childhood and family determinants of adiposity, cardiovascular risk factors and atherosclerosis in children."; 901; "FAMILY", "Family Atherosclerosis Monitoring In earLY life study", "Family Atherosclerosis Monitoring In early life", "Family Atherosclerosis Monitoring in Early Life study"; ; rdfs:label "Family Atherosclerosis Monitoring In earLY life Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6131 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6133 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6131; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19781411+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The purpose of this study is to examine the fetal and early childhood family-based determinants for the development of adiposity, CVD risk factors, and atherosclerosis in childhood." . _:17eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6133; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19781411+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The purpose of this study is to examine the fetal and early childhood family-based determinants for the development of adiposity, CVD risk factors, and atherosclerosis in childhood." . _:17ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10613963/fullTextXML"; rdfs:comment "The Family Atherosclerosis Monitoring in Early Life (FAMILY) study is a longitudinal birth cohort study with 857 families (901 newborns) enrolled from 2002 and 2009 from three hospitals in Ontario, Canada." . _:17ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841457"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "FAMILY Family Atherosclerosis Monitoring In earLY life study" . _:17ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Canadian longitudinal birth cohort of about 850 families (mother, father, newborn and eldest sibling) recruited during pregnancy at three hospitals in Ontario between 2002 and 2009, followed to study prenatal, early-childhood and family determinants of adiposity, cardiovascular risk factors and atherosclerosis in children."; "PMID:19781411", "PMID:37908396"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 901; "newborns (index children) enrolled 2002-2009; mothers and fathers counted separately"; "PMID:27453525"; rdfs:comment "The study population included 901 babies, 857 mothers and 530 fathers." . _:17f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FAMILY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6140; , ; ; "GCST90267567"; "A Finnish–US study of type 2 diabetes genetics that ascertained Finnish families with type 2 diabetes in at least two siblings, with spouses and offspring examined by frequently sampled intravenous glucose tolerance tests, and later Finnish type 2 diabetes cases and normoglycaemic controls, to map susceptibility genes for type 2 diabetes and related quantitative traits."; 1161; 1174; "FUSION", "Finland-United States Investigation of Non-Insulin-Dependent Diabetes Mellitus Genetics"; ; rdfs:label "Finland-United States Investigation of NIDDM Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6140 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6140; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9614613+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using a careful selection strategy, we have ascertained 495 families with confirmed NIDDM in at least two siblings and no history of IDDM among the first-degree relatives." . _:17f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2672416/unicode"; rdfs:comment "The FUSION stage 1 sample consists of 1,161 Finnish T2D cases and 1,174 Finnish normal glucose tolerant controls." . _:17f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267567"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7614755/fullTextXML"; rdfs:comment "We also annotated loci with eQTLs in skeletal muscle identified in FUSION (P < 0.05)80." . _:17f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish–US study of type 2 diabetes genetics that ascertained Finnish families with type 2 diabetes in at least two siblings, with spouses and offspring examined by frequently sampled intravenous glucose tolerance tests, and later Finnish type 2 diabetes cases and normoglycaemic controls, to map susceptibility genes for type 2 diabetes and related quantitative traits."; "PMID:18372903", "PMID:9614613"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1161; "no total of individuals stated; GWAS stage 1 case-control sample given as cases and controls"; "https://europepmc.org/api/getPdf?pmcid=PMC2672416"; rdfs:comment "FUSION—The FUSION stage 1 sample consists of 1,161 Finnish T2D cases and 1,174 Finnish normal glucose tolerant controls2." . _:17f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1174; "no total of individuals stated; GWAS stage 1 case-control sample given as cases and controls"; "https://europepmc.org/api/getPdf?pmcid=PMC2672416"; rdfs:comment "FUSION—The FUSION stage 1 sample consists of 1,161 Finnish T2D cases and 1,174 Finnish normal glucose tolerant controls2." . _:17f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FUSION"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6148; , ; "GCST90992794"; "A randomized, placebo-controlled trial of Ginkgo biloba for preventing incident dementia in 3069 adults aged 75 and over, 2587 cognitively normal and 482 with mild cognitive impairment, conducted from 2000 to 2008 at five academic centers in the United States."; "The acronym GEM also denotes Genetic Epidemiology of Migraine Study (COHO:0001770) and Genes in Myopia Study (COHO:0001806); this term is Ginkgo Evaluation of Memory Study."@en; 3069; "GEM", "GEM_Ginkgo", "Gingko Evaluation of Memory", "Ginkgo Evaluation of Memory (GEM) study"; ; rdfs:label "Ginkgo Evaluation of Memory Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6148 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6148; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "Briefly, GEM was a randomized, placebo‐controlled trial that was conducted from 2000 to 2008 across five different academic centers in the United States to assess the effectiveness of Ginkgo biloba on incident dementia in 3069 participants aged ≥ 75, including 2587 cognitively normal individuals and 482 individuals with mild cognitive impairment (MCI)." . _:17f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "Briefly, GEM was a randomized, placebo‐controlled trial that was conducted from 2000 to 2008 across five different academic centers in the United States to assess the effectiveness of Ginkgo biloba on incident dementia in 3069 participants aged ≥ 75, including 2587 cognitively normal individuals and 482 individuals with mild cognitive impairment (MCI)." . _:17fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90992794"; "Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults."; "PMID:40042063", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "The study included 3021 participants (1476 male and 1545 female) from three cohorts with longitudinal cognitive assessment: the Gingko Evaluation of Memory (GEM) study, the Monongahela‐Youghiogheny Healthy Aging Team (MYHAT), and the Monongahela Valley Independent Elders Survey (MoVIES)." . _:17fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, placebo-controlled trial of Ginkgo biloba for preventing incident dementia in 3069 adults aged 75 and over, 2587 cognitively normal and 482 with mild cognitive impairment, conducted from 2000 to 2008 at five academic centers in the United States."; "PMID:40042063"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:17fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3069; "randomised participants aged 75 and over (2008)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "Briefly, GEM was a randomized, placebo‐controlled trial that was conducted from 2000 to 2008 across five different academic centers in the United States to assess the effectiveness of Ginkgo biloba on incident dementia in 3069 participants aged ≥ 75, including 2587 cognitively normal individuals and 482 individuals with mild cognitive impairment (MCI)." . _:17fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEM"; . _:17fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEM_Ginkgo"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6156, _:genid-371333f489424440b12a13b9d98ced822608-genid6158; , ; "GCST90866313"; "A biobank set up in 2008 at Princess Margaret Hospital, Toronto, Canada, holding biospecimens, including blood for DNA extraction, from patients attending its Genito-Urinary Oncology clinics for the suspicion, diagnosis or treatment of prostate, kidney, bladder, testis or penile tumours, whose non-muscle invasive bladder cancer patients, in two batches (GUB-1 and GUB-2), were used in genetic studies of recurrence and progression."; 16000; "GU BioBank", "GUB", "GUB-1", "GUB-2", "Princess Margaret Hospital’s Genito-Urinary BioBank", "gub1", "gub2"; ; rdfs:label "Genito-Urinary BioBank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6156 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6158 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:17ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6156; "genito-urinary tumor"; "https://ars.els-cdn.com/content/image/1-s2.0-S2210776226000724-mmc1.docx"; rdfs:comment "The biospecimens of the GUB, including blood samples for DNA extraction, were obtained from the patients attending clinics for the suspicion, diagnosis and/or treatment of a genito-urinary tumor (prostate, kidney, bladder, testis, penis) within the Genito-Urinary Oncology division of The Princess Margaret’s Hospital." . _:18002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6158; "non-muscle invasive bladder cancer"; "https://ars.els-cdn.com/content/image/1-s2.0-S2210776226000724-mmc1.docx"; rdfs:comment "The biospecimens of the GUB, including blood samples for DNA extraction, were obtained from the patients attending clinics for the suspicion, diagnosis and/or treatment of a genito-urinary tumor (prostate, kidney, bladder, testis, penis) within the Genito-Urinary Oncology division of The Princess Margaret’s Hospital." . _:18012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11181778/fullTextXML"; rdfs:comment "N = 684), two cohorts from the Genito-Urinary BioBank (GUB-1, GUB-2, Toronto, Canada;" . _:18022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90866313"; "Comprehensive genome-wide association study into multiple recurrence and progression risk in non-muscle invasive bladder cancer."; "PMID:42320430", "https://ars.els-cdn.com/content/image/1-s2.0-S2210776226000724-mmc1.docx"; rdfs:comment "Genito-Urinary Biobank (GUB) The GUB was set up at the Princess Margaret’s Hospital in Toronto in 2008." . _:18032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank set up in 2008 at Princess Margaret Hospital, Toronto, Canada, holding biospecimens, including blood for DNA extraction, from patients attending its Genito-Urinary Oncology clinics for the suspicion, diagnosis or treatment of prostate, kidney, bladder, testis or penile tumours, whose non-muscle invasive bladder cancer patients, in two batches (GUB-1 and GUB-2), were used in genetic studies of recurrence and progression."; "PMID:25987846", "https://ars.els-cdn.com/content/image/1-s2.0-S2210776226000724-mmc1.docx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16000; "participants consented since 2008 (stated as 'over 16,000', a lower bound), 2020"; "https://cdn.ymaws.com/www.isber.org/resource/resmgr/isber_2020/anaheim_eposters/pl06.pdf"; rdfs:comment "Since its inception, over 16,000 participants have been consented to the program." . _:18052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GU BioBank"; . _:18062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GUB"; . _:18072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GUB-1"; . _:18082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GUB-2"; . _:18092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gub1"; . _:180a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "gub2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6170; , , ; "GCST005840"; "A case-control study of ischaemic stroke in Japan combining 1,113 patients with ischaemic stroke recruited in 2004 from seven hospitals in Fukuoka Prefecture (the Fukuoka Stroke Registry) with 901 controls free of stroke and coronary heart disease drawn from the population-based Hisayama Study, used in genome-wide association studies of ischaemic stroke and its subtypes."; 1113; 901; "HISAYAMA", "HISAYAMA_FSR", "Hisayama-FSR"; ; rdfs:label "Hisayama-FSR study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:180b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6170; "ischemic stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The individuals with ischemic stroke were recruited from seven hospitals in Fukuoka Prefecture, Japan (Kyushu University Hospital, Hakujyuji Hospital, Fukuoka Red Cross Hospital, Kyushu Medical Center, Imazu Red Cross Hospital, Fukuoka Higashi Medical Center, and Seiai Rehabilitation Hospital) in 2004 (The Fukuoka Stroke Registry [FSR]) ." . _:180c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The individuals with ischemic stroke were recruited from seven hospitals in Fukuoka Prefecture, Japan (Kyushu University Hospital, Hakujyuji Hospital, Fukuoka Red Cross Hospital, Kyushu Medical Center, Imazu Red Cross Hospital, Fukuoka Higashi Medical Center, and Seiai Rehabilitation Hospital) in 2004 (The Fukuoka Stroke Registry [FSR]) ." . _:180d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005840"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Stroke ascertainment in the Hisayama-FSR study: Ischemic stroke was defined as a sudden non- convulsive, focal neurologic deficit lasting longer than 24 hours due to brain ischemia." . _:180e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of ischaemic stroke in Japan combining 1,113 patients with ischaemic stroke recruited in 2004 from seven hospitals in Fukuoka Prefecture (the Fukuoka Stroke Registry) with 901 controls free of stroke and coronary heart disease drawn from the population-based Hisayama Study, used in genome-wide association studies of ischaemic stroke and its subtypes."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:180f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1113; "ischaemic stroke cases and stroke-free controls in the GWAS (no total stated), 2004"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "In the genome-wide association study, 1113 cases with ischemic stroke (370 large artery stroke, 137 cardioembolic stroke, 483 small vessel occlusion, 123 undetermined subtype) were included." . _:18102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 901; "ischaemic stroke cases and stroke-free controls in the GWAS (no total stated), 2004"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "In the genome-wide association study, 1113 cases with ischemic stroke (370 large artery stroke, 137 cardioembolic stroke, 483 small vessel occlusion, 123 undetermined subtype) were included." . _:18112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HISAYAMA"; . _:18122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HISAYAMA_FSR"; . _:18132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hisayama-FSR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6180; , , , ; "GCST013196"; "An international collaboration that meta-analysed genome-wide association data on late-onset Alzheimer's disease from four consortia, the Alzheimer Disease Genetics Consortium, the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, the European Alzheimer's Disease Initiative and the Genetic and Environmental Risk in Alzheimer's Disease Consortium, first with 17,008 cases and 37,154 controls of European ancestry."; 94437; "I-GAP", "IGAP", "International Genomics Alzheimer's Project", "International Genomics of Alzheimer’s Project"; ; rdfs:label "International Genomics of Alzheimer's Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6180 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6180; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6001515/fullTextXML"; rdfs:comment "International Genomics of Alzheimer's Project (IGAP) is a large study that used genotyped and imputed data on 7,055,881 single nucleotide polymorphisms (SNPs) to meta‐analyze four previously published GWAS datasets consisting of 17,008 AD cases and 37,154 controls" . _:18152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6001515/fullTextXML"; rdfs:comment "International Genomics of Alzheimer's Project (IGAP) is a large study that used genotyped and imputed data on 7,055,881 single nucleotide polymorphisms (SNPs) to meta‐analyze four previously published GWAS datasets consisting of 17,008 AD cases and 37,154 controls (The Genetic and Environmental Risk in AD consortium‐GERAD, The European Alzheimer's disease Initiative‐EADI, the Alzheimer Disease Genetics Consortium‐ADGC, and The Cohorts for Heart and Aging Research in Genomic Epidemiology consortium‐CHARGE)." . _:18162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6001515/fullTextXML"; rdfs:comment "International Genomics of Alzheimer's Project (IGAP) is a large study that used genotyped and imputed data on 7,055,881 single nucleotide polymorphisms (SNPs) to meta‐analyze four previously published GWAS datasets consisting of 17,008 AD cases and 37,154 controls (The Genetic and Environmental Risk in AD consortium‐GERAD, The European Alzheimer's disease Initiative‐EADI, the Alzheimer Disease Genetics Consortium‐ADGC, and The Cohorts for Heart and Aging Research in Genomic Epidemiology consortium‐CHARGE)." . _:18172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6001515/fullTextXML"; rdfs:comment "International Genomics of Alzheimer's Project (IGAP) is a large study that used genotyped and imputed data on 7,055,881 single nucleotide polymorphisms (SNPs) to meta‐analyze four previously published GWAS datasets consisting of 17,008 AD cases and 37,154 controls (The Genetic and Environmental Risk in AD consortium‐GERAD, The European Alzheimer's disease Initiative‐EADI, the Alzheimer Disease Genetics Consortium‐ADGC, and The Cohorts for Heart and Aging Research in Genomic Epidemiology consortium‐CHARGE)." . _:18182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6001515/fullTextXML"; rdfs:comment "International Genomics of Alzheimer's Project (IGAP) is a large study that used genotyped and imputed data on 7,055,881 single nucleotide polymorphisms (SNPs) to meta‐analyze four previously published GWAS datasets consisting of 17,008 AD cases and 37,154 controls (The Genetic and Environmental Risk in AD consortium‐GERAD, The European Alzheimer's disease Initiative‐EADI, the Alzheimer Disease Genetics Consortium‐ADGC, and The Cohorts for Heart and Aging Research in Genomic Epidemiology consortium‐CHARGE)." . _:18192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST013196"; "A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease."; "PMID:34493870", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10243600/unicode"; rdfs:comment "Summary statistics from IGAP (https://web.pasteur-lille.fr/en/recherche/u744/igap/igap_download.php) and Finngen (https://www.finngen.fi/en/access_results) can be obtained from their respective online portals." . _:181a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaboration that meta-analysed genome-wide association data on late-onset Alzheimer's disease from four consortia, the Alzheimer Disease Genetics Consortium, the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium, the European Alzheimer's Disease Initiative and the Genetic and Environmental Risk in Alzheimer's Disease Consortium, first with 17,008 cases and 37,154 controls of European ancestry."; "PMID:29532500"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:181b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 94437; "individuals across all stages of the 2019 IGAP meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6463297/"; rdfs:comment "To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals)." . _:181c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "I-GAP"; . _:181d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6191; , ; , ; "GCST90267569"; "A family study of Mexican Americans in the Los Angeles area, United States, in which the families of probands with documented coronary artery disease were recruited to examine the genetic basis of coronary artery disease and insulin resistance."; 772; "MACAD", "Mexican American Study of Coronary Artery Disease", "Mexican-American Coronary Artery Disease family study"; ; rdfs:label "Mexican-American Coronary Artery Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6191 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:181e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6191; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Family members of probands with documented coronary artery disease were recruited from the Los Angeles area." . _:181f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Family members of probands with documented coronary artery disease were recruited from the Los Angeles area." . _:18202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267569"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7614755/fullTextXML"; rdfs:comment "Two of these studies included participants of Hispanic American ancestry (MACAD and HTN-IR;" . _:18212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Mexican Americans in the Los Angeles area, United States, in which the families of probands with documented coronary artery disease were recruited to examine the genetic basis of coronary artery disease and insulin resistance."; "PMID:24124113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 772; "analysed subset: MACAD individuals (208 families) included in GUARDIAN (2014)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "GUARDIAN includes 772 of these individuals from 208 families." . _:18232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MACAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6198; , , , , , , ; , ; "PMID:24124113"; "A consortium of seven Mexican-American cohorts in the United States (the IRAS Family Study, BetaGene, MACAD, HTN-IR, NIDDM-Athero, IRAS and TRIPOD; 4,336 individuals in 1,346 pedigrees) formed to conduct genome-wide association studies of insulin sensitivity and insulin clearance measured by euglycemic clamp or frequently sampled intravenous glucose tolerance test."; 4336; "GUARDIAN", "GUARDIAN Study", "GUARDIAN consortium", "Genetics UndeRlying Diabetes In hispANics", "Genetics Underlying Diabetes in Hispanics"; rdfs:label "Genetics UndeRlying DIAbetes in HispaNics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6198 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6198; "type 2 diabetes"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "We assembled the GUARDIAN Consortium to address knowledge gaps concerning the increased risk of T2D observed in Mexican Americans compared to European populations." . _:18252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:18262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:18272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:18282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:18292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:182a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:182b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Seven cohorts are included in the GWAS phase of the GUARDIAN study: five family-based studies (IRAS Family, BetaGene, MACAD, HTN-IR, NIDDM-Athero; total 3925 individuals) and two non-family based studies (IRAS, TRIPOD; total 411 individuals)." . _:182c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Individuals of self-reported Mexican-American ethnicity were recruited in San Antonio, TX and San Luis Valley, CO." . _:182d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24124113"; "Insulin sensitivity and insulin clearance are heritable and have strong genetic correlation in Mexican Americans."; "PMID:24124113", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "The study described herein, Genetics UndeRlying Diabetes In hispANics, or GUARDIAN, was formed to eventually conduct a GWAS in seven Mexican-American cohorts of insulin sensitivity and insulin clearance directly quantified by the euglycemic clamp and FSIGT." . _:182e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of seven Mexican-American cohorts in the United States (the IRAS Family Study, BetaGene, MACAD, HTN-IR, NIDDM-Athero, IRAS and TRIPOD; 4,336 individuals in 1,346 pedigrees) formed to conduct genome-wide association studies of insulin sensitivity and insulin clearance measured by euglycemic clamp or frequently sampled intravenous glucose tolerance test."; "PMID:24124113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:182f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4336; "Mexican-American individuals in 1,346 pedigrees across seven member cohorts (2014)"; "PMID:24124113"; rdfs:comment "GUARDIAN is comprised of seven cohorts, consisting of 4,336 Mexican-American individuals in 1,346 pedigrees." . _:18302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GUARDIAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6212; , , ; ; "GCST005838"; "A collaboration that meta-analyses genome-wide association datasets from ischaemic stroke case-control cohorts of European ancestry (initially 15 cohorts with 12,389 cases and 62,004 controls) to validate previously reported associations and identify new genetic associations with ischaemic stroke and its subtypes."; 12389; 62004; "METASTROKE", "METASTROKE Consortium"; ; rdfs:label "METASTROKE collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6212 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6212; "ischaemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3490334/fullTextXML"; rdfs:comment "The METASTROKE collaboration brings together GWAS data from more than 12 000 cases of ischaemic stroke and 60 000 controls from 15 cohorts all of European ancestry." . _:18322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3490334/fullTextXML"; rdfs:comment "ARIC analyses performed as part of the METASTROKE project were supported by grant HL-093029 to M Fornage." . _:18332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3490334/fullTextXML"; rdfs:comment "deCODE 2391 399 255 240 26 970 European Cross-sectional Illumina 317/370" . _:18342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582024/fullTextXML"; rdfs:comment "MetaStroke is a project of the International Stroke Genetics Consortium and comprises ischemic stroke cases whose DNA has been collected and undergone GWA scan, recruited from centers in Europe (BRAINS [Bio-Repository of DNA in Stroke], United Kingdom; DeCODE, Iceland; Cerebrovascular Diseases Registry (CEDIR), Milan, Italy; Rotterdam, the Netherlands), USA (Atherosclerosis Risk in Communities study; Cardiovascular Health Study; Framingham Heart Study; Genetics of Early Onset Stroke Study; Heart Protection Study; Heart and Vascular Health; Ischemic Stroke Genetics Study; Massachusetts General Hospital Genes Affecting Stroke Risk and Outcome study), and Australia (Australian Stroke Genetics Collaborative)." . _:18352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005838"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5968830/unicode"; rdfs:comment "COMPASS Consortium, EPIC-CVD Consortium, EPIC-InterAct Consortium, ISGC, METASTROKE Consortium, Neurology Working Group of the CHARGE Consortium, NINDS-SiGN, UK Young Lacunar DNA Study, and MEGASTROKE Consortium." . _:18362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaboration that meta-analyses genome-wide association datasets from ischaemic stroke case-control cohorts of European ancestry (initially 15 cohorts with 12,389 cases and 62,004 controls) to validate previously reported associations and identify new genetic associations with ischaemic stroke and its subtypes."; "PMID:23041239"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12389; "ischaemic stroke cases and controls in the 2012 discovery meta-analysis (15 cohorts)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3490334/"; rdfs:comment "We meta-analysed data from 15 ischaemic stroke cohorts with a total of 12 389 individuals with ischaemic stroke and 62 004 controls, all of European ancestry." . _:18382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 62004; "ischaemic stroke cases and controls in the 2012 discovery meta-analysis (15 cohorts)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3490334/"; rdfs:comment "We meta-analysed data from 15 ischaemic stroke cohorts with a total of 12 389 individuals with ischaemic stroke and 62 004 controls, all of European ancestry." . _:18392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METASTROKE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6222; , ; "GCST90992794"; "A prospective cohort of 1681 adults aged 65 and over living in the Monongahela Valley, Pennsylvania, USA, recruited from voter registration lists in 1987–1989 and followed every other year for up to 12 years to study cognitive decline and dementia."; 1681; "MoVIES"; ; rdfs:label "Monongahela Valley Independent Elders Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6222 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:183a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6222; "dementia" . _:183b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "MoVIES was a prospective study that recruited 1681 individuals aged ≥ 65 residing within the Monongahela Valley, Pennsylvania during 1987 through 1989 using a voter's registration list." . _:183c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90992794"; "Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults."; "PMID:40042063", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "The study included 3021 participants (1476 male and 1545 female) from three cohorts with longitudinal cognitive assessment: the Gingko Evaluation of Memory (GEM) study, the Monongahela‐Youghiogheny Healthy Aging Team (MYHAT), and the Monongahela Valley Independent Elders Survey (MoVIES)." . _:183d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 1681 adults aged 65 and over living in the Monongahela Valley, Pennsylvania, USA, recruited from voter registration lists in 1987–1989 and followed every other year for up to 12 years to study cognitive decline and dementia."; "PMID:40042063"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:183e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1681; "adults aged 65+ recruited 1987-1989"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11880917/fullTextXML"; rdfs:comment "MoVIES was a prospective study that recruited 1681 individuals aged ≥ 65 residing within the Monongahela Valley, Pennsylvania during 1987 through 1989 using a voter's registration list." . _:183f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MoVIES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6229, _:genid-371333f489424440b12a13b9d98ced822608-genid6231; , ; "GCST90841457"; "A Finnish pregnancy cohort of 4,785 women recruited at their first ultrasound scan in ten hospital maternity clinics between 2005 and 2010, comprising a high-risk subsample with and without risk factors for preeclampsia and intrauterine growth restriction and a community-based subsample, followed with their children to study the prediction and prevention of pregnancy complications and prenatal influences on offspring development."; 4785; "PREDO", "Prediction and Prevention of Pre-eclampsia and Intrauterine Growth Restriction study", "Prediction and Prevention of Preeclampsia Study", "The Prediction and Prevention of Preeclampsia and Intrauterine Growth Restriction study"; ; rdfs:label "Prediction and Prevention of Preeclampsia and Intrauterine Growth Restriction Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6229 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6231 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6229; "intrauterine growth restriction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12964119/fullTextXML"; rdfs:comment "The PREDO study recruited between 12 and 14 gestational weeks (GWs) 1079 pregnant women with known risk factor status for preeclampsia and intrauterine growth restriction from 10 hospitals [26]." . _:18412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6231; "preeclampsia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12964119/fullTextXML"; rdfs:comment "The PREDO study recruited between 12 and 14 gestational weeks (GWs) 1079 pregnant women with known risk factor status for preeclampsia and intrauterine growth restriction from 10 hospitals [26]." . _:18422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12964119/fullTextXML"; rdfs:comment "Our study population came from 3 Finnish studies, the Prediction and Prevention of Pre-eclampsia and Intrauterine Growth Restriction (PREDO) study [26], the Finnish Gestational Diabetes Prevention (RADIEL) study [27], and the InTraUterine Sampling in Early Pregnancy Study (ITU) [28]." . _:18432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841457"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "PREDO The Prediction and Prevention of Preeclampsia and Intrauterine Growth Restriction study" . _:18442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish pregnancy cohort of 4,785 women recruited at their first ultrasound scan in ten hospital maternity clinics between 2005 and 2010, comprising a high-risk subsample with and without risk factors for preeclampsia and intrauterine growth restriction and a community-based subsample, followed with their children to study the prediction and prevention of pregnancy complications and prenatal influences on offspring development."; "PMID:26919119", "PMID:27639277"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4785; "pregnant women recruited 2005-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4769149/fullTextXML"; rdfs:comment "Of the 4785 recruited mothers, we had data on birth outcomes from the birth register and the two-week interval self-report of positive affect, depressive symptoms, and state anxiety during pregnancy for 3376 mothers (70.6% of those recruited)." . _:18462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PREDO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6238; , , ; "GCST90188370"; "A case-control study of stroke recruiting over 5,000 imaging-confirmed stroke cases and 5,000 controls from seven centres in Pakistan, investigating genetic, biomarker and lifestyle determinants of stroke and its subtypes, and using controls from the Pakistan Risk of Myocardial Infarction Study for genetic analyses."; "RACE", "RACE Study", "Risk Assessment of Cerebrovascular Events", "Risk Assessment of Cerebrovascular Events Study, Pakistan"; ; rdfs:label "Risk Assessment of Cerebrovascular Events Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6238 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6238; "stroke"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000456.v1.p1"; rdfs:comment "Risk Assessment of Cerebrovascular Events (RACE) is an on-going existing case-control study of stroke now involving over 5000 imaging confirmed cases of stroke and 5000 controls, recruited from seven centers in Pakistan." . _:18482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000456.v1.p1"; rdfs:comment "Risk Assessment of Cerebrovascular Events (RACE) is an on-going existing case-control study of stroke now involving over 5000 imaging confirmed cases of stroke and 5000 controls, recruited from seven centers in Pakistan." . _:18492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90188370"; "Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke."; "PMID:36240095", "https://cdn-links.lww.com/permalink/wnl/c/wnl_2022_08_08_mitchell_1_sdc1.pdf"; rdfs:comment "The Risk Assessment of Cerebrovascular Events (RACE) Study is a retrospective case-control study designed to identify and evaluate genetic, lifestyle and biomarker determinants of stroke and its subtype in Pakistan." . _:184a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of stroke recruiting over 5,000 imaging-confirmed stroke cases and 5,000 controls from seven centres in Pakistan, investigating genetic, biomarker and lifestyle determinants of stroke and its subtypes, and using controls from the Pakistan Risk of Myocardial Infarction Study for genetic analyses."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000456.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:184b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RACE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6244; ; , ; "GCST90101797"; "A prospective population-based cohort of 30,239 African American and European American adults aged 45 or older recruited from the 48 contiguous US states and the District of Columbia in 2003–2007, designed to measure stroke incidence and its risk factors and to explain geographic and racial differences in stroke."; 30239; "REGARDS", "REGARDS study", "REasons for Geographic And Racial Differences in Stroke", "Reasons for Geographic and Racial Differences in Stroke study"; ; rdfs:label "Reasons for Geographic and Racial Differences in Stroke"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6244 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:184c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6244; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9554233/fullTextXML"; rdfs:comment "The REGARDS study is one of the largest ongoing prospective population-based studies in the U.S. and was designed to measure stroke incidence and associated risk factors in AA and European-Americans adults ≥45 years of age (8)." . _:184d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9554233/fullTextXML"; rdfs:comment "From January 2003 to October 2007, 30,239 participants (42% AA, 55% women) were recruited from the 48 contiguous U.S. states and the District of Columbia." . _:184e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101797"; "Genetic Contributors of Incident Stroke in 10,700 African Americans With Hypertension: A Meta-Analysis From the Genetics of Hypertension Associated Treatments and Reasons for Geographic and Racial Differences in Stroke Studies."; "PMID:34992631", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34992631+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Methods: In a population comprising over 10,700 AAs treated for hypertension from the Genetics of Hypertension Associated Treatments (GenHAT) and Reasons for Geographic and Racial Differences in Stroke (REGARDS) studies, we performed an inverse variance-weighted meta-analysis of incident stroke." . _:184f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of 30,239 African American and European American adults aged 45 or older recruited from the 48 contiguous US states and the District of Columbia in 2003–2007, designed to measure stroke incidence and its risk factors and to explain geographic and racial differences in stroke."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9554233/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30239; "participants recruited 2003-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9554233/fullTextXML"; rdfs:comment "From January 2003 to October 2007, 30,239 participants (42% AA, 55% women) were recruited from the 48 contiguous U.S. states and the District of Columbia." . _:18512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REGARDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6251; , , ; , ; "GCST90504004", "PGS000733"; "A randomized, double-blind, placebo-controlled, 2 × 2 factorial trial of selenium and vitamin E, alone and in combination, for the prevention of prostate cancer, which enrolled 35,533 men from the United States, Canada and Puerto Rico at more than 400 clinical sites."; 35533; "SELECT", "SWOG-SELECT", "Selenium and Vitmain E Cancer Prevention Trial"; , ; rdfs:label "Selenium and Vitamin E Cancer Prevention Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6251 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6251; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23552052+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Selenium and Vitamin E Cancer Prevention Trial (SELECT) was conducted to assess the efficacy of selenium and vitamin E alone, and in combination, on the incidence of prostate cancer." . _:18532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3705339/fullTextXML"; rdfs:comment "A total of 35,533 eligible men from the US, Canada, and Puerto Rico were enrolled in a 3-year period, exceeding the goals for both number of participants and for length of the accrual period." . _:18542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "We are also grateful to the 35,533 dedicated men who participated in SELECT." . _:18552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:18562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind, placebo-controlled, 2 × 2 factorial trial of selenium and vitamin E, alone and in combination, for the prevention of prostate cancer, which enrolled 35,533 men from the United States, Canada and Puerto Rico at more than 400 clinical sites."; "PMID:23552052"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 35533; "eligible men enrolled (randomised) over a 3-year accrual period"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3705339/fullTextXML"; rdfs:comment "A total of 35,533 eligible men from the US, Canada, and Puerto Rico were enrolled in a 3-year period, exceeding the goals for both number of participants and for length of the accrual period." . _:18582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SELECT"; . _:18592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWOG-SELECT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6260, _:genid-371333f489424440b12a13b9d98ced822608-genid6262; , ; "GCST005838"; "A multicentre, multinational European prospective observational study of 5,023 patients aged 18–55 with acute stroke or transient ischaemic attack, enrolled at 47 centres in 15 European countries between 2007 and 2010, originally designed to investigate the relation between juvenile stroke and Fabry disease and also used to study stroke patterns in young adults."; 5023; "SIFAP", "SIFAP1", "Stroke In Young Fabry Patients", "Stroke in Young Fabry Patients study", "sifap1"; ; rdfs:label "Stroke in Young Fabry Patients"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6260 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:185a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6260; "transient ischemic attack"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The SIFAP study is a multicenter study carried out to determine the frequency of Fabry disease in an unselected group of young adult patients with acute cerebrovascular events defined as having had an acute ischemic stroke or transient ischemic attack less than three months before enrollment into the study." . _:185b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6262; "ischemic stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The SIFAP study is a multicenter study carried out to determine the frequency of Fabry disease in an unselected group of young adult patients with acute cerebrovascular events defined as having had an acute ischemic stroke or transient ischemic attack less than three months before enrollment into the study." . _:185c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "For this project, ischemic stroke cases recruited from 15 sites throughout Germany and determined not to have Fabry Disease were included in the analysis." . _:185d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005838"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The SIFAP study is a multicenter study carried out to determine the frequency of Fabry disease in an unselected group of young adult patients with acute cerebrovascular events defined as having had an acute ischemic stroke or transient ischemic attack less than three months before enrollment into the study." . _:185e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, multinational European prospective observational study of 5,023 patients aged 18–55 with acute stroke or transient ischaemic attack, enrolled at 47 centres in 15 European countries between 2007 and 2010, originally designed to investigate the relation between juvenile stroke and Fabry disease and also used to study stroke patterns in young adults."; "PMID:25380809"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:185f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5023; "patients aged 18-55 with acute stroke or TIA enrolled April 2007 to January 2010 (2007-2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4225229/fullTextXML"; rdfs:comment "A total of 5023 patients with stroke (aged 18–55 years) were enrolled in the sifap1 study, 271 patients with primary haemorrhages and 217 patients without classification of the CVE were excluded." . _:18602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIFAP"; . _:18612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIFAP1"; . _:18622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "sifap1"; . a owl:NamedIndividual, ; , ; "GCST90454171"; "A consortium of cohort studies of European-ancestry individuals, initially 14 genome-wide association studies with over 20,000 participants and later expanded to about 79,000, established to meta-analyse genome-wide association studies of spirometric lung function."; 20288; "SpiroMeta", "SpiroMeta consortium"; ; rdfs:label "SpiroMeta Consortium"@en . _:18632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2862965/"; rdfs:comment "The SpiroMeta consortium consists of 14 GWAS studies: ALSPAC, B58C-T1DGC, B58C-WTCCC, EPIC (obese and population-based substudies), the EUROSPAN studies (Korcula, NSPHS, ORCADES and Vis), FTC (incorporating the FinnTwin16 and Finnish Twin Study on Aging), KORA S3, NFBC1966, SHIP and TwinsUK (see Table 1 for definitions of acronyms)." . _:18642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2862965/"; rdfs:comment "The SpiroMeta consortium consists of 14 GWAS studies: ALSPAC, B58C-T1DGC, B58C-WTCCC, EPIC (obese and population-based substudies), the EUROSPAN studies (Korcula, NSPHS, ORCADES and Vis), FTC (incorporating the FinnTwin16 and Finnish Twin Study on Aging), KORA S3, NFBC1966, SHIP and TwinsUK (see Table 1 for definitions of acronyms)." . _:18652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454171"; "Genetic and observational associations of lung function with gastrointestinal tract diseases: pleiotropic and mendelian randomization analysis."; "PMID:38102678", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724909/fullTextXML"; rdfs:comment "A total of 400,102 Europeans from the UK biobank (UKB) and the SpiroMeta Consortium were analyzed." . _:18662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of cohort studies of European-ancestry individuals, initially 14 genome-wide association studies with over 20,000 participants and later expanded to about 79,000, established to meta-analyse genome-wide association studies of spirometric lung function."; "PMID:20010834"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20288; "European-ancestry individuals in the 2010 stage-1 GWAS meta-analysis (14 studies)"; "https://europepmc.org/api/getPdf?pmcid=PMC2862965"; rdfs:comment "Here we report a meta-analysis of GWAS in the SpiroMeta consortium, comprising 20,288 individuals of European ancestry, that tested association between cross-sectional lung function measures and ~2.5 million genotyped or imputed SNPs (stage 1)." . _:18682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SpiroMeta"; . a owl:NamedIndividual, ; , ; "GCST90565738"; "A longitudinal study of men and women who graduated from Wisconsin high schools in 1957, most born in 1939, and one of their randomly selected siblings, followed for almost 60 years to link family background, adolescent characteristics, education, work and family life to later-life physical and mental health, cognition and mortality, with saliva samples for genetic studies."; 10317; "The Wisconsin Longitudinal Study", "WLS"; ; rdfs:label "Wisconsin Longitudinal Study"@en . _:18692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24585852+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Wisconsin Longitudinal Study (WLS) is a longitudinal study of men and women who graduated from Wisconsin high schools in 1957 and one of their randomly selected siblings." . _:186a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565738"; "Associations between common genetic variants and income provide insights about the socio-economic health gradient."; "PMID:39875632", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12018258/supplementaryFiles"; rdfs:comment "WLS Wisconsin Longitudinal Study" . _:186b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of men and women who graduated from Wisconsin high schools in 1957, most born in 1939, and one of their randomly selected siblings, followed for almost 60 years to link family background, adolescent characteristics, education, work and family life to later-life physical and mental health, cognition and mortality, with saliva samples for genetic studies."; "PMID:24585852"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:186c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10317; "1957 Wisconsin high school graduates in the original sample (siblings not included)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3937969/"; rdfs:comment "WLS is based on a 1/3 random sample of all Wisconsin high school graduates in 1957 (n = 10 317) born between 1938 and 1940." . _:186d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6282, _:genid-371333f489424440b12a13b9d98ced822608-genid6284; , ; "GCST90014293"; "A study of low-income, predominantly African American adults recruited from the primary care and obstetrics-gynaecology clinics of Grady Memorial Hospital, an urban public hospital in Atlanta, United States, to investigate environmental and genetic risk factors for trauma-related disorders such as posttraumatic stress disorder and depression."; 1600; "GTP"; ; rdfs:label "Grady Trauma Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6282 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6284 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:186e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6282; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19892208+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study was undertaken to increase understanding of environmental risk factors for posttraumatic stress disorder (PTSD) and major depressive disorder (MDD) within an urban, impoverished, population." . _:186f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6284; "posttraumatic stress disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19892208+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study was undertaken to increase understanding of environmental risk factors for posttraumatic stress disorder (PTSD) and major depressive disorder (MDD) within an urban, impoverished, population." . _:18702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12972126/fullTextXML"; rdfs:comment "Participants were recruited between 2011 and 2016 at Grady Memorial Hospital, Atlanta, Georgia, USA." . _:18712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014293"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/supplementaryFiles"; rdfs:comment "Grady Trauma Project (GTP) investigates the influence of genetic and environmental factors on response to stressful events in a predominantly African-American, urban population of low socioeconomic status." . _:18722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of low-income, predominantly African American adults recruited from the primary care and obstetrics-gynaecology clinics of Grady Memorial Hospital, an urban public hospital in Atlanta, United States, to investigate environmental and genetic risk factors for trauma-related disorders such as posttraumatic stress disorder and depression."; "PMID:19892208"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1600; "participants given initial interviews 2005-2008"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2785858/"; rdfs:comment "Initial interviews were performed with 1600 participants approached while in the waiting rooms of primary care or obstetrical-gynecological clinics of Grady Memorial Hospital in Atlanta, Georgia from 2005 to 2008." . _:18742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTP"; . a owl:NamedIndividual, ; , ; , ; "GCST90244092"; "A Croatian biobank project, based at the University of Split with UK Medical Research Council funding, that recruited adults from the isolated Dalmatian islands of Vis and Korčula and from the mainland city of Split into separate cohorts, to investigate genetic, environmental and social determinants of health and disease in Croatia."; "10 001 Dalmatians", "10,001 Dalmatians biobank", "10,001 Dalmatians project", "10001 Dalmatians", "CROATIA study", "Croatia"; ; rdfs:label "10,001 Dalmatians"@en . _:18752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6016867/fullTextXML"; rdfs:comment "This study was performed on samples from three Croatian populations: from the Dalmatian islands of Korcula and Vis and the mainland city of Split, within the large-scale project of “10,001 Dalmatians” (Rudan et al., 2009)." . _:18762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6016867/fullTextXML"; rdfs:comment "This study was performed on samples from three Croatian populations: from the Dalmatian islands of Korcula and Vis and the mainland city of Split, within the large-scale project of “10,001 Dalmatians” (Rudan et al., 2009)." . _:18772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10138356/fullTextXML"; rdfs:comment "This study is based on the Croatian biobank 10,001 Dalmatians [78,79], the most comprehensive research resource for investigating genetic, environmental and social determinants of health and disease in Croatia." . _:18782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244092"; "Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk."; "PMID:36914875", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10011137/fullTextXML"; rdfs:comment "Croatia cohort, S.M.K., V.V., O.P. and I.R.;" . _:18792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Croatian biobank project, based at the University of Split with UK Medical Research Council funding, that recruited adults from the isolated Dalmatian islands of Vis and Korčula and from the mainland city of Split into separate cohorts, to investigate genetic, environmental and social determinants of health and disease in Croatia."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10138356/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6016867/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:187a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Croatia"; . a owl:NamedIndividual, ; , ; , , , ; "EGAS00001003819", "GCST90014287"; "A cohort of 1,091 people born in 1936 who took an intelligence test at age 11 in the Scottish Mental Survey of 1947, recruited in 2004–2007 at a mean age of 70, mostly living in Edinburgh and the Lothians, and retested about every 3 years with cognitive, biomedical, brain imaging and lifestyle assessments to study non-pathological cognitive ageing from childhood to older age."; 1091; "LBC1936", "LBC36"; , ; rdfs:label "Lothian Birth Cohort 1936"@en . _:187b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6124629/fullTextXML"; rdfs:comment "participants of both Surveys, mostly living in Edinburgh and the surrounding area (the Lothians) in older age, were invited to participate in the Lothian Birth Cohort (LBC) studies." . _:187c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003819"; "Lothian Birth Cohort 1936 whole genome sequencing study"; "https://ega-archive.org/studies/EGAS00001003819"; rdfs:comment "1075 members of the Lothian Birth Cohort 1936 (LBC1936) were sequenced using the Illumina HiSeq X platform." . _:187d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014287"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/fullTextXML"; rdfs:comment "The procedure was iterated after excluding different test cohorts one by one (Lothian Birth Cohort 1921, Lothian Birth Cohort 1936, Framingham Heart Study, Born in Bradford, ARIES, and SABRE, respectively) from the meta-analysis." . _:187e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 1,091 people born in 1936 who took an intelligence test at age 11 in the Scottish Mental Survey of 1947, recruited in 2004–2007 at a mean age of 70, mostly living in Edinburgh and the Lothians, and retested about every 3 years with cognitive, biomedical, brain imaging and lifestyle assessments to study non-pathological cognitive ageing from childhood to older age."; "PMID:29546429"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:187f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1091; "SMS1947 members recruited to Wave 1, 2004-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6124629/fullTextXML"; rdfs:comment "Between 2004 and 2007, 1091 members of SMS1947 were recruited to Wave 1 of the LBC1936 study, at a mean age of 70 years." . _:18802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBC1936"; . _:18812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBC36"; . a owl:NamedIndividual, ; , ; , ; "EGAS00001003818", "GCST90014287"; "A cohort of 550 people born in 1921 who took an intelligence test at age 11 in the Scottish Mental Survey of 1932, recruited in 1999–2001 at a mean age of 79, mostly living in Edinburgh and the Lothians, and followed up five times to age 92 to study non-pathological cognitive ageing from childhood to older age."; 550; "LBC1921", "LBC21"; , ; rdfs:label "Lothian Birth Cohort 1921"@en . _:18822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6124629/fullTextXML"; rdfs:comment "participants of both Surveys, mostly living in Edinburgh and the surrounding area (the Lothians) in older age, were invited to participate in the Lothian Birth Cohort (LBC) studies." . _:18832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGAS00001003818"; "Lothian Birth Cohort 1921 whole genome sequencing study"; "https://ega-archive.org/studies/EGAS00001003818"; rdfs:comment "297 members of the Lothian Birth Cohort 1921" . _:18842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90014287"; "Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging."; "PMID:34187551", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8243879/fullTextXML"; rdfs:comment "The procedure was iterated after excluding different test cohorts one by one (Lothian Birth Cohort 1921, Lothian Birth Cohort 1936, Framingham Heart Study, Born in Bradford, ARIES, and SABRE, respectively) from the meta-analysis." . _:18852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 550 people born in 1921 who took an intelligence test at age 11 in the Scottish Mental Survey of 1932, recruited in 1999–2001 at a mean age of 79, mostly living in Edinburgh and the Lothians, and followed up five times to age 92 to study non-pathological cognitive ageing from childhood to older age."; "PMID:29546429"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 550; "SMS1932 members recruited to Wave 1, 1999-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6124629/fullTextXML"; rdfs:comment "Between 1999 and 2001, 550 of the SMS1932 were recruited to Wave 1 of the LBC1921 study, at a mean age of 79 years." . _:18872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBC1921"; . _:18882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBC21"; . a owl:NamedIndividual, ; , ; "GCST90654659"; "A nationally representative cohort of people in the United States born between 1976 and 1982, enrolled as adolescents and followed in repeated waves into adulthood with self-report, parent-report, geocoded and genetic data to study how adolescent circumstances shape later health and wellbeing."; 20745; "Add Health", "AddHealth"; ; rdfs:label "National Longitudinal Study of Adolescent to Adult Health"@en . _:18892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13522009/fullTextXML"; rdfs:comment "We used data from Add Health: a U.S. nationally representative cohort of people born between 1976 and 1982." . _:188a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90654659"; "Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia."; "PMID:39189922", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11538615/fullTextXML"; rdfs:comment "Genotype and limited demographic data on otherwise healthy pediatric controls (n = 8,372) were obtained from the National Longitudinal Study of Adolescent to Adult Health (Add Health) cohort,35 which used 2 Illumina platforms for genotyping: the Illumina Human Omni1-Quad BeadChip for the majority of samples, and the Illumina Omni-2.5 Quad BeadChip." . _:188b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationally representative cohort of people in the United States born between 1976 and 1982, enrolled as adolescents and followed in repeated waves into adulthood with self-report, parent-report, geocoded and genetic data to study how adolescent circumstances shape later health and wellbeing."; "PMID:42084756"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:188c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20745; "adolescents in grades 7-12 interviewed in-home at Wave I (core plus special samples), 1995"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6857761/"; rdfs:comment "The core sample plus the special samples yield a total of 20 745 adolescents." . _:188d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Add Health"; . _:188e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AddHealth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6317, _:genid-371333f489424440b12a13b9d98ced822608-genid6319; , ; "GCST90104462"; "A cohort of Spanish schoolchildren recruited at schools in Andalucía, the Basque Country, Castilla-León, Murcia and the Canary Islands by the Basque Center on Cognition, Brain and Language, who gave saliva for DNA and were assessed with reading, phonological, attention and IQ tasks, and whose genome-wide genotypes are used to study the genetics of dyslexia, ADHD and reading- and language-related skills."; 4678; "BCBL", "Brain and Language cohort"; ; rdfs:label "Basque Center on Cognition, Brain and Language cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:188f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6317; "dyslexia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6209299/fullTextXML"; rdfs:comment "We examined 4 SNPs located on genes previously associated to dyslexia (KIAA0319, DCDC2, DYX1C1 and FOXP2) and 3 SNPs within genes related to ADHD (COMT, MAOA and DBH) in a cohort of Spanish children (N = 2078) that met the criteria of having one, both or none of these disorders (dyslexia and ADHD)." . _:18902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6319; "attention deficit hyperactivity disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6209299/fullTextXML"; rdfs:comment "We examined 4 SNPs located on genes previously associated to dyslexia (KIAA0319, DCDC2, DYX1C1 and FOXP2) and 3 SNPs within genes related to ADHD (COMT, MAOA and DBH) in a cohort of Spanish children (N = 2078) that met the criteria of having one, both or none of these disorders (dyslexia and ADHD)." . _:18912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6209299/fullTextXML"; rdfs:comment "A total of 4678 saliva samples were collected from children at schools all over Spain from different regions (Andalucía, Basque Country, Castilla-León, Murcia, and Canary Islands), after informed consent was obtained from their tutors or parents." . _:18922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Basque Center on Cognition, Brain and Language (BCBL) cohort was supported by the Basque Government through the Basic Excellence Research Centre program and the Agencia Estatal de Investigación through BCBL Severo Ochoa excellence accreditation." . _:18932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Spanish schoolchildren recruited at schools in Andalucía, the Basque Country, Castilla-León, Murcia and the Canary Islands by the Basque Center on Cognition, Brain and Language, who gave saliva for DNA and were assessed with reading, phonological, attention and IQ tasks, and whose genome-wide genotypes are used to study the genetics of dyslexia, ADHD and reading- and language-related skills."; "PMID:30379906", "PMID:35998220"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4678; "schoolchildren who gave saliva samples"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6209299/fullTextXML"; rdfs:comment "A total of 4678 saliva samples were collected from children at schools all over Spain." . _:18952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCBL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6326; , ; "GCST90239750"; "A family study of patients with type 2 diabetes, their first-degree relatives and spouses without a family history of diabetes in western Finland, examined with oral glucose tolerance tests and euglycaemic insulin clamps and followed prospectively to study the inheritance, metabolic features and prediction of type 2 diabetes."; "BOTS", "Botnia"; ; rdfs:label "Botnia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6326 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6326; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8866565+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To address this question, we studied 2,152 first-degree relatives of patients with NIDDM (FH+) and 528 age- and weight-matched spouses without a family history of NIDDM (FH-) in Western Finland (the Botnia study)." . _:18972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8866565+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To address this question, we studied 2,152 first-degree relatives of patients with NIDDM (FH+) and 528 age- and weight-matched spouses without a family history of NIDDM (FH-) in Western Finland (the Botnia study)." . _:18982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239750"; "Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes."; "PMID:35220425", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9523562/fullTextXML"; rdfs:comment "The skilful assistance of the Botnia Study Group is gratefully acknowledged." . _:18992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of patients with type 2 diabetes, their first-degree relatives and spouses without a family history of diabetes in western Finland, examined with oral glucose tolerance tests and euglycaemic insulin clamps and followed prospectively to study the inheritance, metabolic features and prediction of type 2 diabetes."; "PMID:19017778", "PMID:8866565"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:189a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BOTS"; . _:189b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Botnia"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6333; , ; "GCST90104462"; "A family-based sample selected for dyslexia by the Colorado Learning Disabilities Research Center at the University of Colorado, United States, in which children and their families were assessed with reading, spelling, phonological and IQ tests and genotyped to study the genetics of reading disability."; 717; "CLDRC", "Colorado Learning Disabilities Research Center", "Colorado Learning Disabilities Research Centre"; ; rdfs:label "Colorado Learning Disabilities Research Center cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:189c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6333; "dyslexia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9649434/fullTextXML"; rdfs:comment "The other two were family-based samples selected for dyslexia: one from the United Kingdom (UKdys), n = 930 (595 families); the other from the United States (Colorado Learning Disabilities Research Center, CLDRC), n = 717 (336 families)92." . _:189d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9649434/fullTextXML"; rdfs:comment "the other from the United States (Colorado Learning Disabilities Research Center, CLDRC), n = 717 (336 families)" . _:189e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Colorado Learning Disabilities Research Center cohort was supported by NICHD Grant P50 HD 27802." . _:189f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based sample selected for dyslexia by the Colorado Learning Disabilities Research Center at the University of Colorado, United States, in which children and their families were assessed with reading, spelling, phonological and IQ tests and genotyped to study the genetics of reading disability."; "PMID:36266505"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 717; "genotyped family members analysed for polygenic scores (analysed subset; 336 families)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9649434/fullTextXML"; rdfs:comment "The other two were family-based samples selected for dyslexia: one from the United Kingdom (UKdys), n = 930 (595 families); the other from the United States (Colorado Learning Disabilities Research Center, CLDRC), n = 717 (336 families)92." . _:18a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLDRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6340; , ; "GCST90002227"; "A German study run from the Technical University of Dresden, with participants from Saxony, of people at increased risk of type 2 diabetes who had a 75-g oral glucose tolerance test at baseline and again after about three years, which also contributed patients with type 2 diabetes and controls to consortium genetic studies of type 2 diabetes and glycaemic traits."; "DIAGEN", "Diabetes Genetics"; ; rdfs:label "DIAGEN Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6340 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6340; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16801592+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 550 subjects with increased risk of type 2 diabetes were investigated; they underwent a 75-g oral glucose tolerance test, repeated after 3 years." . _:18a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2798726/fullTextXML"; rdfs:comment "We are grateful to all of the patients who cooperated in this study and to their referring physicians and diabetologists in Saxony." . _:18a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002227"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The DIAGEN study was supported by the Commission of the European Communities, Directorate C - Public Health and Risk Assessment, Health & Consumer Protection, Grant Agreement number - 2004310 and by the Dresden University of Technology Funding Grant, Med Drive." . _:18a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German study run from the Technical University of Dresden, with participants from Saxony, of people at increased risk of type 2 diabetes who had a 75-g oral glucose tolerance test at baseline and again after about three years, which also contributed patients with type 2 diabetes and controls to consortium genetic studies of type 2 diabetes and glycaemic traits."; "PMID:16801592", "PMID:21646370", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2798726/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIAGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6346, _:genid-371333f489424440b12a13b9d98ced822608-genid6348; "GCST90162551"; "A 3-year multinational observational cohort of about 2,180 patients with moderate to very severe chronic obstructive pulmonary disease and smoking and non-smoking controls, recruited at 46 centres in 12 countries in North America, Europe and New Zealand, to define COPD subtypes and find clinical, imaging, biomarker and genetic predictors of disease progression."; 2164; "ECLIPSE", "ECLIPSE study", "Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints", "Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints study"; ; rdfs:label "Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6346 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6348 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6346; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372058/fullTextXML"; rdfs:comment "COPDGene, COGEND, and ECLIPSE are all smoking cohorts and ratios of COPD were consistent across array and WGS datasets, thus we expected no genome-wide significant association signals (controlled type 1 error)." . _:18a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6348; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18216052+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ECLIPSE plans to recruit 2,180 COPD subjects in Global Initiative for Chronic Obstructive Lung Disease categories II-IV and 343 smoking and 223 nonsmoking control subjects." . _:18a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90162551"; "GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing."; "PMID:35953715", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372058/fullTextXML"; rdfs:comment "Collaborative Genetic Study of Nicotine Dependence (COGEND)20,21, Genetic Epidemiology of COPD (COPDGene) study22, and Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE)23." . _:18aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A 3-year multinational observational cohort of about 2,180 patients with moderate to very severe chronic obstructive pulmonary disease and smoking and non-smoking controls, recruited at 46 centres in 12 countries in North America, Europe and New Zealand, to define COPD subtypes and find clinical, imaging, biomarker and genetic predictors of disease progression."; "PMID:18216052"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2164; "COPD patients studied at baseline; smoking and non-smoking controls given separately in the note"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2944278/"; rdfs:comment "Based upon these calculations, we studied 2164 patients with COPD (GOLD stage 2-4), 337 smoking controls and 245 non-smoking controls (Figure 1 )." . _:18ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECLIPSE"; . a owl:NamedIndividual, ; , ; "GCST90104462"; "A population-based cohort of 1910 infants recruited at 8 months of age in Melbourne, Australia, in 2003–2004 and followed through childhood with parent reports and language assessments to study language development and its early-life predictors."; 1910; "ELVS", "The Early Language in Victoria Study"; ; rdfs:label "Early Language in Victoria Study"@en . _:18ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35186809+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe how a set of early life factors used in a large, prospective community cohort from Australia are associated with language abilities across the preschool years" . _:18ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Early Language in Victoria Study was supported by NHMRC Grant 436958." . _:18af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 1910 infants recruited at 8 months of age in Melbourne, Australia, in 2003–2004 and followed through childhood with parent reports and language assessments to study language development and its early-life predictors."; "PMID:41237490"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1910; "8-month-old infants recruited 2003-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41237490+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Early Language in Victoria Study (ELVS) recruited 1910 8-month-olds in Melbourne in 2003-2004." . _:18b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELVS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6359, _:genid-371333f489424440b12a13b9d98ced822608-genid6361, _:genid-371333f489424440b12a13b9d98ced822608-genid6363, _:genid-371333f489424440b12a13b9d98ced822608-genid6365; , ; "GCST90797639"; "A prospective population-based German birth cohort of 5,991 healthy term newborns recruited in obstetric hospitals in Munich and Wesel in 1995–1998, comprising a double-blind randomised trial of hydrolysed infant formula in children with a family history of allergy (the German Infant Nutritional Intervention study, GINI) and a non-interventional arm, about 55% of whom were followed for the first 10 years to study the natural course of atopic diseases and their determinants."; 5991; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI"; "GINI", "GINI-plus", "GINIplus", "German Infant Study On The Influence Of Nutrition Intervention Plus Environmental And Genetic Influences On Allergy Development", "German Infant Study on the Influence of Nutrition Intervention plus Air Pollution and Genetics on Allergy Development", "German Infant Study on the influence of Nutrition Intervention", "German Infant Study on the influence of Nutrition Intervention PLUS environmental and genetic influences on allergy development", "German Infant study on the influence of Nutrition Intervention PLUS environmental and genetic influences on allergy development", "German infant study on the Influence of Nutrition Intervention plus environmental and genetic influences on allergy development", "The German Infant Study on the Influence of Nutrition Intervention Plus Air Pollution and Genetics on Allergy Development", "The German Infant Study on the Influence of Nutrition Intervention plus Air pollution and Genetics on Allergy Development"; , ; rdfs:label "German Infant Study on the Influence of Nutrition Intervention plus Air pollution and Genetics on Allergy Development"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6359 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6361 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6363 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6365 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6359; "Nutrition Intervention"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "GINIplus – The German Infant Study on the Influence of Nutrition Intervention plus Air pollution and Genetics on Allergy Development GINIplus is a prospective population-based birth cohort study." . _:18b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6361; "road traffic emissions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "GINIplus – The German Infant Study on the Influence of Nutrition Intervention plus Air pollution and Genetics on Allergy Development GINIplus is a prospective population-based birth cohort study." . _:18b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6363; "Air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "GINIplus – The German Infant Study on the Influence of Nutrition Intervention plus Air pollution and Genetics on Allergy Development GINIplus is a prospective population-based birth cohort study." . _:18b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6365; "atopic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30402607+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed the natural course of atopic diseases and the role of life-style, environmental, and genetic factors for disease onset, intermediate phenotypes, and genes involved in detoxification and oxidative stress." . _:18b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "The two large German birth cohorts, GINIplus and LISAplus, recruited 5,991 and 3,097 children, respectively, in Munich (West), Leipzig (East), Wesel (West), and Bad Honnef (West) to investigate various influences on the development of the immune system and the etiology of allergic diseases." . _:18b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "GINIplus&LISA German Infant Study on the influence of Nutrition Intervention and Influence of Life-style related factors on the development of the Immune System and Allergies in East and West Germany - plus the influence of traffic emissions and genetics Prospective population-based birth cohort Munich, Germany PMID: 20082618 (GINIplus)" . _:18b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based German birth cohort of 5,991 healthy term newborns recruited in obstetric hospitals in Munich and Wesel in 1995–1998, comprising a double-blind randomised trial of hydrolysed infant formula in children with a family history of allergy (the German Infant Nutritional Intervention study, GINI) and a non-interventional arm, about 55% of whom were followed for the first 10 years to study the natural course of atopic diseases and their determinants."; "PMID:30402607"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5991; "healthy term newborns recruited (interventional and non-interventional arms), 1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "Of the 5,991 newborns recruited, 3,317 (55.4%) could be followed until the age of 10 years." . _:18ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GINI"; . _:18bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GINIplus"; . a owl:NamedIndividual, ; , ; "GCST001593"; "A cohort of 1,068 young men aged 18–20, randomly identified in the greater Gothenburg area of Sweden from national population registers, initiated to determine environmental and genetic factors involved in the regulation of bone and fat mass, with a five-year follow-up examination."; 1068; "GOOD", "GOOD cohort", "GOOD study"; ; rdfs:label "Gothenburg Osteoporosis and Obesity Determinants study"@en . _:18bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "Young men were randomly identified in the greater Gothenburg area in Sweden using national population registers, contacted by telephone, and invited to participate." . _:18bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001593"; "WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk."; "PMID:22792071", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Gothenburg Osteoporosis and Obesity Determinants (GOOD) study was initiated to determine both environmental and genetic factors involved in the regulation of bone and fat mass [39]" . _:18be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 1,068 young men aged 18–20, randomly identified in the greater Gothenburg area of Sweden from national population registers, initiated to determine environmental and genetic factors involved in the regulation of bone and fat mass, with a five-year follow-up examination."; "PMID:22792071"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1068; "young men who agreed to participate at baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "There were no other exclusion criteria, and 49% of the study candidates agreed to participate (n = 1068)." . _:18c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOOD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6378; , ; ; "GCST90275189"; "A case-control sample of extremely overweight young Danish adults and equal numbers of randomly drawn population controls, selected from women of the Danish National Birth Cohort and men of a Danish draft-board examination cohort, for genome-wide association study of body mass index."; 2633; 2740; 5373; "DNBC-GOYA", "GOYA", "Genetics of Extremely Overweight Young Adults"; ; rdfs:label "Genetics of Overweight Young Adults"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6378 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6378; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21935397+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From two large Danish cohorts we selected all extremely overweight young men and women (n = 2,633), and equal numbers of population-based controls (n = 2,740, drawn randomly from the same populations as the extremes, representing ∼212,000 individuals)." . _:18c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3174168/fullTextXML"; rdfs:comment "From two large Danish cohorts we selected all extremely overweight young men and women (n = 2,633), and equal numbers of population-based controls (n = 2,740, drawn randomly from the same populations as the extremes, representing ∼212,000 individuals)." . _:18c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01343-9/MediaObjects/41588_2023_1343_MOESM1_ESM.pdf"; rdfs:comment "The Genomics of overweight in Young Adults (GOYA) study is a nested study within the DNBC, and conducted in collaboration with the MRC Integrative Epidemiology Unit at the University of Bristol (MC_UU_12013/1-9)." . _:18c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90275189"; "Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth."; "PMID:37798380", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632150/supplementaryFiles"; rdfs:comment "Genetics of Overweight Young Adults – mothers with overweight and their children (GOYA-MO-OW) GOYA is a nested study within the Danish National Birth Cohort (DNBC)" . _:18c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of extremely overweight young Danish adults and equal numbers of randomly drawn population controls, selected from women of the Danish National Birth Cohort and men of a Danish draft-board examination cohort, for genome-wide association study of body mass index."; "PMID:21935397"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2633; "genotyped individuals passing QC (extremely overweight cases and random population controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3174168/fullTextXML"; rdfs:comment "After data cleaning, 5,373 individuals (2,633 extremely overweight and 2,740 random controls) and 545,349 SNPs remained." . _:18c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2740; "genotyped individuals passing QC (extremely overweight cases and random population controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3174168/fullTextXML"; rdfs:comment "After data cleaning, 5,373 individuals (2,633 extremely overweight and 2,740 random controls) and 545,349 SNPs remained." . _:18c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5373; "genotyped individuals passing QC (extremely overweight cases and random population controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3174168/fullTextXML"; rdfs:comment "After data cleaning, 5,373 individuals (2,633 extremely overweight and 2,740 random controls) and 545,349 SNPs remained." . _:18c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNBC-GOYA"; . _:18ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOYA"; . a owl:NamedIndividual, ; , , , , ; "GCST90239828"; "A consortium of genome-wide association studies of systolic and diastolic blood pressure, whose 2011 multi-stage meta-analysis combined about 200,000 individuals of European descent to find blood pressure loci and relate them to hypertension and cardiovascular disease risk."; 200000; "ICBP", "International Consortium for Blood Pressure", "International Consortium for Blood Pressure Genome-wide Association Studies"; ; rdfs:label "International Consortium for Blood Pressure Genome-Wide Association Studies"@en . _:18cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10405/MediaObjects/41586_2011_BFnature10405_MOESM207_ESM.pdf"; rdfs:comment "Fourteen cohorts (DiaGen, HUNT2, FINRISK97, FUSION2, METSIM, CLUE, MDC, MPP, FBPP-HyperGen, FBPP-GenNet, Jamaicans-GXE, Jamaicans-SPT, CCMB cohorts and IRAS) were genotyped using the iPLEX Sequenom MassARRAY platform." . _:18cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10405/MediaObjects/41586_2011_BFnature10405_MOESM207_ESM.pdf"; rdfs:comment "Five studies (YFS, EPIC-TURIN, FLEMENGHO, Nigerians, and JMGP) were genotyped using Taqman assays (Applied Biosystems, USA)." . _:18cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10405/MediaObjects/41586_2011_BFnature10405_MOESM207_ESM.pdf"; rdfs:comment "Fourteen cohorts (DiaGen, HUNT2, FINRISK97, FUSION2, METSIM, CLUE, MDC, MPP, FBPP-HyperGen, FBPP-GenNet, Jamaicans-GXE, Jamaicans-SPT, CCMB cohorts and IRAS) were genotyped using the iPLEX Sequenom MassARRAY platform." . _:18ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0205-x/MediaObjects/41588_2018_205_MOESM1_ESM.pdf"; rdfs:comment "ICBP GWAS is an international consortium to investigate BP genetics6-8 . We combined previously reported post-quality control (QC) GWAS data from 54 studies (N=150,134)8 , with newly available GWAS data from a further 23 independent studies (N=148,890) using a fixed effects inverse variance weighted meta-analysis. All study participants were of European descent and were imputed to either the 1000 Genomes Project Phase 1 integrated release version 3 [March 2012] all ancestry reference panel or the Haplotype Reference Consortium (HRC) panel. The final enlarged ICBP GWAS dataset included 77 studies comprising data from 299,024 individuals from the following cohorts: The initial ICBP GWAS included: AGES (n=3215), ARIC (n=9402), ASPS (n=828), B58C (n=6458), BHS (n=4492), CHS (n=3254), Cilento study (n=999), COLAUS (n=5404), COROGENE-CTRL (n=1878), CROATIA-Vis (n=945), CROATIA-Split (n=494), CROATIA-Korcula (n=867), EGCUT (n=6395), EGCUT2 (n=1844), EPIC (n=2100), ERF (n=2617), Fenland (n=1357), FHS (n=8096), FINRISK-ctrl (n=861), FINRISK CASE (n=839), FUSION (n=1045), GRAPHIC (n=1010), H2000-CTRL (n=1078), HealthABC (n=1661), HTO (n=1000)" . _:18cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10405/MediaObjects/41586_2011_BFnature10405_MOESM207_ESM.pdf"; rdfs:comment "The Japanese Millenium Genome Project comprises 7 independent study cohorts for studies of cardiovascular diseases and related risk factors." . _:18d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239828"; "Genome-wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores."; "PMID:34989438", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34989438+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report here a bidirectional Mendelian Randomization (MR) and horizontal pleiotropy analysis of S/DBP summary statistics from the UK Biobank (UKB)-International Consortium for Blood Pressure (ICBP) (UKB-ICBP) BP genome-wide association study and construct a composite genetic risk score (GRS) by including pleiotropic variants." . _:18d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of genome-wide association studies of systolic and diastolic blood pressure, whose 2011 multi-stage meta-analysis combined about 200,000 individuals of European descent to find blood pressure loci and relate them to hypertension and cardiovascular disease risk."; "PMID:21909115"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200000; "individuals of European descent in the 2011 multi-stage GWAS meta-analysis (discovery plus follow-up)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3340926/unicode"; rdfs:comment "This genome-wide association study of SBP and DBP, which used a multi-stage design in 200,000 individuals of European descent, identified 16 novel loci: six of these loci contain genes previously known or suspected to regulate BP (GUCY1A3-GUCY1B3; NPR3-C5orf23; ADM; FURIN-FES; GOSR2; GNAS-EDN3); the other 10 provide new clues to BP physiology." . _:18d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICBP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6398; , ; "GCST90104462"; "A case-control sample of 219 children with language impairment and 209 sex- and age-matched, unrelated controls collected at the University of Iowa, United States, who completed a battery of language measures (including the Peabody Picture Vocabulary Test and nonword repetition) used to define case status, and reading, spelling and IQ assessments, used in genetic association studies of language impairment and of reading- and language-related skills."; 219; 209; 428; "Iowa", "Iowa cohort", "Iowa study"; ; rdfs:label "Iowa LI cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6398 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6398; "language impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3655151/fullTextXML"; rdfs:comment "The Iowa LI cohort is comprised of 219 LI cases and 209 sex- and age-matched, unrelated controls collected at the University of Iowa." . _:18d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3655151/fullTextXML"; rdfs:comment "The Iowa LI cohort is comprised of 219 LI cases and 209 sex- and age-matched, unrelated controls collected at the University of Iowa." . _:18d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/supplementaryFiles"; rdfs:comment "In the Iowa study, word and nonword reading was measured with the Woodcock Reading Mastery Tests-Revisited (WRMT-R) (55) using the Word Identification and Word Attack subtests, respectively." . _:18d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of 219 children with language impairment and 209 sex- and age-matched, unrelated controls collected at the University of Iowa, United States, who completed a battery of language measures (including the Peabody Picture Vocabulary Test and nonword repetition) used to define case status, and reading, spelling and IQ assessments, used in genetic association studies of language impairment and of reading- and language-related skills."; "PMID:23691092", "PMID:24509779", "PMID:35998220"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 219; "language-impairment cases and matched unrelated controls"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4053598/"; rdfs:comment "Replication cohorts Iowa LI Colorado RD Italy RD Cohort-type Case–control Family-based Family-based Number of subjects 428 1,188 878" . _:18d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 209; "language-impairment cases and matched unrelated controls"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4053598/"; rdfs:comment "Replication cohorts Iowa LI Colorado RD Italy RD Cohort-type Case–control Family-based Family-based Number of subjects 428 1,188 878" . _:18da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 428; "language-impairment cases and matched unrelated controls"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4053598/"; rdfs:comment "Replication cohorts Iowa LI Colorado RD Italy RD Cohort-type Case–control Family-based Family-based Number of subjects 428 1,188 878" . _:18db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iowa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6407, _:genid-371333f489424440b12a13b9d98ced822608-genid6409, _:genid-371333f489424440b12a13b9d98ced822608-genid6411, _:genid-371333f489424440b12a13b9d98ced822608-genid6413; ; , , ; "GCST90837204"; "A hospital-based Korean dementia research programme made up of three prospective cohorts (the PREMIER consortium, the LLOD cohort and the Samsung Medical Center amyloid PET cohort) at 28 centres, which by December 2023 had recruited over 5,800 participants across the Alzheimer's clinical syndrome, subcortical vascular cognitive impairment and frontotemporal dementia spectra, with clinical, neuroimaging, biomarker and genomic data, to study disease progression and early diagnosis of dementia in the Korean population."; 5856; "K-ROAD", "K-ROAD cohort", "K-ROAD study", "Korea-Registries to Overcome and Accelerate Dementia Research", "Korea-Registries to Overcome and Accelerate Dementia research project"; ; rdfs:label "Korea-Registries to Overcome Dementia and Accelerate Dementia Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6407 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6409 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6411 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6413 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6407; "subcortical vascular cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39512701+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Korea-Registries to Overcome Dementia and Accelerate Dementia Research (K-ROAD) aims to establish a large-scale, hospital-based dementia cohort to address this gap, with a focus on understanding disease progression, developing early diagnostics, and supporting treatment advancements specific to the Korean population." . _:18dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6409; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39512701+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Korea-Registries to Overcome Dementia and Accelerate Dementia Research (K-ROAD) aims to establish a large-scale, hospital-based dementia cohort to address this gap, with a focus on understanding disease progression, developing early diagnostics, and supporting treatment advancements specific to the Korean population." . _:18de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6411; "Alzheimer's clinical syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39512701+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Korea-Registries to Overcome Dementia and Accelerate Dementia Research (K-ROAD) aims to establish a large-scale, hospital-based dementia cohort to address this gap, with a focus on understanding disease progression, developing early diagnostics, and supporting treatment advancements specific to the Korean population." . _:18df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6413; "frontotemporal dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39512701+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Korea-Registries to Overcome Dementia and Accelerate Dementia Research (K-ROAD) aims to establish a large-scale, hospital-based dementia cohort to address this gap, with a focus on understanding disease progression, developing early diagnostics, and supporting treatment advancements specific to the Korean population." . _:18e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11538854/fullTextXML"; rdfs:comment "The three cohorts include the precision medicine platform for mild cognitive impairment based on multi-omics, imaging, evidence-based R&BD (PREMIER) consortium, the longitudinal/cohort study of patients with late onset dementia (LLOD) cohort, and the Samsung Medical Center (SMC) amyloid PET cohort." . _:18e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39512701+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Korea-Registries to Overcome Dementia and Accelerate Dementia Research (K-ROAD) aims to establish a large-scale, hospital-based dementia cohort to address this gap, with a focus on understanding disease progression, developing early diagnostics, and supporting treatment advancements specific to the Korean population." . _:18e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837204"; "Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome-wide association studies."; "PMID:41804841", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41804841+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genome-wide association studies (GWAS) of plasma phosphorylated tau at threonine 217 (pTau217), pTau181, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) were performed in 1,972 individuals from the Korea-Registries to Overcome and Accelerate Dementia Research (K-ROAD) cohort." . _:18e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based Korean dementia research programme made up of three prospective cohorts (the PREMIER consortium, the LLOD cohort and the Samsung Medical Center amyloid PET cohort) at 28 centres, which by December 2023 had recruited over 5,800 participants across the Alzheimer's clinical syndrome, subcortical vascular cognitive impairment and frontotemporal dementia spectra, with clinical, neuroimaging, biomarker and genomic data, to study disease progression and early diagnosis of dementia in the Korean population."; "PMID:39512701"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5856; "participants registered across the three member cohorts who underwent amyloid PET (2023)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11538854/fullTextXML"; rdfs:comment "As of December 2023, the K-ROAD cohort registered a total of 5,856 participants who underwent amyloid PET." . _:18e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "K-ROAD"; . a owl:NamedIndividual, ; ; , ; "GCST90627735"; "A genotype-phenotype resource assembled at Mayo Clinic from participants of multiple Mayo Clinic research studies who gave general research consent to share their high-throughput genotyping data, linked to electronic medical record data for phenotype extraction, to enable cost-effective genome-wide association studies."; 6307; "Mayo Clinic Genome Consortium", "MayoGC"; ; rdfs:label "Mayo Genome Consortia"@en . _:18e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3127556/"; rdfs:comment "Phase 1, which has been completed, includes participants from 3 studies funded by the National Institutes of Health, which sought to identify genetic determinants of peripheral arterial disease (PAD), venous thromboembolism, and pancreatic cancer, respectively, with a combined total sample size of 6307 unique participants" . _:18e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC11396662/unicode"; rdfs:comment "These cohorts consisted of four US-based sites (Vanderbilt University Medical Center’s BioVu, the Mass General Brigham Biobank, Mount Sinai’s BioMe, and Mayo Clinic’s MayoGC) and six non-US sites (iPSYCH from Denmark, FinnGen, HUNT Study from Norway, STR-STAGE from Sweden, UK Biobank, and Estonia Biobank)." . _:18e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90627735"; "Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder."; "PMID:38637617", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC11396662/unicode"; rdfs:comment "These cohorts consisted of four US-based sites (Vanderbilt University Medical Center’s BioVu, the Mass General Brigham Biobank, Mount Sinai’s BioMe, and Mayo Clinic’s MayoGC) and six non-US sites (iPSYCH from Denmark, FinnGen, HUNT Study from Norway, STR-STAGE from Sweden, UK Biobank, and Estonia Biobank)." . _:18e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genotype-phenotype resource assembled at Mayo Clinic from participants of multiple Mayo Clinic research studies who gave general research consent to share their high-throughput genotyping data, linked to electronic medical record data for phenotype extraction, to enable cost-effective genome-wide association studies."; "PMID:21646302"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6307; "unique genotyped participants in phase 1 (three contributing studies), 2011"; "https://europepmc.org/api/getPdf?pmcid=PMC3127556"; rdfs:comment "Phase 1, which has been completed, includes participants from 3 studies funded by the National Institutes of Health, which sought to identify genetic determinants of peripheral arterial disease (PAD), venous thromboembolism, and pan- creatic cancer, respectively, with a combined total sample size of 6307 unique participants (Table 1)." . _:18eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MayoGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6427; , ; "GCST90104320"; "A population-based cohort of people aged 30–75 years born in Iraq or Sweden and resident in Malmö, Sweden, randomly selected from the Malmö census register, to study the impact of migration and ethnicity on type 2 diabetes and related metabolic traits."; 2155; "MEDIM", "Migration and Ethnicity on Diabetes in Malmö"; ; rdfs:label "Impact of Migration and Ethnicity on Diabetes in Malmö"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6427 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6427; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8886846/fullTextXML"; rdfs:comment "The MEDIM cohort (the impact of Migration and Ethnicity on Diabetes in Malmö) is a population-based cohort comprised of people aged 30 to 75 years, born in either Iraq or Sweden, and resident in Malmö." . _:18ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8886846/fullTextXML"; rdfs:comment "Here, we assessed the genetic basis of estimated glomerular filtration rate (eGFR) and other metabolic traits in people of Iraqi ancestry living in southern Sweden." . _:18ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104320"; "GWAS in people of Middle Eastern descent reveals a locus protective of kidney function-a cross-sectional study."; "PMID:35227251", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8886846/fullTextXML"; rdfs:comment "The MEDIM cohort (the impact of Migration and Ethnicity on Diabetes in Malmö) is a population-based cohort comprised of people aged 30 to 75 years, born in either Iraq or Sweden, and resident in Malmö." . _:18ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of people aged 30–75 years born in Iraq or Sweden and resident in Malmö, Sweden, randomly selected from the Malmö census register, to study the impact of migration and ethnicity on type 2 diabetes and related metabolic traits."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8886846/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2155; "Iraqi- and Swedish-born residents who took part in the 2010-2012 baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10105731/fullTextXML"; rdfs:comment "Variable Country of birth Entire cohort p-value Iraq (1398) Sweden (757) 2155" . _:18f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEDIM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6434, _:genid-371333f489424440b12a13b9d98ced822608-genid6436, _:genid-371333f489424440b12a13b9d98ced822608-genid6438; , ; "GCST90435154"; "A biobank of patients with Crohn's disease or ulcerative colitis and non-IBD controls recruited with informed consent at Cedars-Sinai Medical Center in Los Angeles, United States, holding clinical phenotype, serological and genetic data and specimens for inflammatory bowel disease research."; 9231; "CSMC", "CSMC MIRIAD Biobank", "Cedars-Sinai IBD Biobank", "Cedars-Sinai MIRIAD IBD Biobank", "Cedars-Sinai Medical Center IBD Research Repository", "MIRIAD", "MIRIAD Biobank", "MIRIAD IBD Biobank", "Material and Information Resources for Inflammatory and Digestive Diseases IBD Biobank"; ; rdfs:label "Material and Information Resources for Inflammatory and Digestive Diseases Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6434 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6436 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6438 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6434; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13046806/fullTextXML"; rdfs:comment "The cohorts include IBD cohorts from the Cedars-Sinai IBD Biobank (MIRIAD, size = 9231), the Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn’s Disease (RISK, size = 431), and the Predictors of Response to Standardized Pediatric Colitis Therapy (PROTECT, size = 1102)." . _:18f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6436; "ulcerative colitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13046806/fullTextXML"; rdfs:comment "The cohorts include IBD cohorts from the Cedars-Sinai IBD Biobank (MIRIAD, size = 9231), the Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn’s Disease (RISK, size = 431), and the Predictors of Response to Standardized Pediatric Colitis Therapy (PROTECT, size = 1102)." . _:18f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6438; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13046806/fullTextXML"; rdfs:comment "The cohorts include IBD cohorts from the Cedars-Sinai IBD Biobank (MIRIAD, size = 9231), the Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn’s Disease (RISK, size = 431), and the Predictors of Response to Standardized Pediatric Colitis Therapy (PROTECT, size = 1102)." . _:18f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12759057/fullTextXML"; rdfs:comment "Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, United States" . _:18f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435154"; "Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease."; "PMID:38490347", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38490347+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We assembled the largest multicohort data set to date to investigate the clinical, serologic, and genetic factors associated with EIM complications in IBD.MethodsData were available in 12,083 unrelated European ancestry IBD cases with presence or absence of EIMs (eg, ankylosing spondylitis [ankylosing spondylitis and sacroiliitis], primary sclerosing cholangitis [PSC], peripheral arthritis, and skin and ocular manifestations) across 4 cohorts (Cedars-Sinai Medical Center, National Institute for Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium, Sinai Helmsley Alliance for Research Excellence Consortium, and Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease cohort)." . _:18f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of patients with Crohn's disease or ulcerative colitis and non-IBD controls recruited with informed consent at Cedars-Sinai Medical Center in Los Angeles, United States, holding clinical phenotype, serological and genetic data and specimens for inflammatory bowel disease research."; "PMID:41748696"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:18f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9231; "individuals (CD, UC and non-IBD) in the MIRIAD serology dataset analysed; an analysed subset"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13046806/fullTextXML"; rdfs:comment "The cohorts include IBD cohorts from the Cedars-Sinai IBD Biobank (MIRIAD, size = 9231), the Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn’s Disease (RISK, size = 431), and the Predictors of Response to Standardized Pediatric Colitis Therapy (PROTECT, size = 1102)." . _:18f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSMC"; . _:18fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIRIAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6446, _:genid-371333f489424440b12a13b9d98ced822608-genid6448; , ; "GCST90624798"; "A collection of African American lung cancer cases and controls drawn from eight US lung cancer studies, among them the Southern Community Cohort Study, the NCI-MD Lung Cancer Case-Control Study, the MD Anderson Lung Cancer Epidemiology Study and the Northern California Lung Cancer Study, genotyped for a genome-wide association study of lung cancer and smoking phenotypes in African Americans."; 1737; 3602; "AA-NCI", "NCI", "NCI Lung Cancer and Smoking Phenotypes in African American Cases and Controls", "NCI Lung Cancer and Smoking Phenotypes in African-American Cases and Controls", "NCI Lung Cancer in African Americans GWAS Consortium", "NCI study of African Americans", "NCI-AA", "NCI_Lung", "National Cancer Institute (NCI) Study of Lung Cancer and Smoking Phenotypes in African-American Cases and Controls"; ; rdfs:label "Lung Cancer and Smoking Phenotypes in African American Cases and Controls"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6446 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6448 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:18fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6446; "lung cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12461003/"; rdfs:comment "Individuals with incident lung cancer and matched control subjects were selected based on self-identified Black/African American race from the prospective Southern Community Cohort Study (SCCS),15 the NCI Lung Cancer and Smoking Phenotypes in African American Cases and Controls (NCI) study,6,9 and INHALE16 for inclusion in the planned analysis." . _:18fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6448; "smoking - cigarettes per day and current or former smoker"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27393504+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "No SNPs reached genome-wide significance for either of the main effect models examining smoking - cigarettes per day and current or former smoker." . _:18fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4939239/unicode"; rdfs:comment "Although African Americans have higher lung cancer incidence and poorer lung cancer survival when compared with other racial and ethnic populations in the United States, no GWAS has been conducted in this population." . _:18fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624798"; "Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility."; "PMID:40829600", "https://pmc.ncbi.nlm.nih.gov/articles/PMC12461003/"; rdfs:comment "Individuals with incident lung cancer and matched control subjects were selected based on self-identified Black/African American race from the prospective Southern Community Cohort Study (SCCS),15 the NCI Lung Cancer and Smoking Phenotypes in African American Cases and Controls (NCI) study,6,9 and INHALE16 for inclusion in the planned analysis." . _:18ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of African American lung cancer cases and controls drawn from eight US lung cancer studies, among them the Southern Community Cohort Study, the NCI-MD Lung Cancer Case-Control Study, the MD Anderson Lung Cancer Epidemiology Study and the Northern California Lung Cancer Study, genotyped for a genome-wide association study of lung cancer and smoking phenotypes in African Americans."; "PMID:27393504"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1737; "African American lung cancer cases and controls from eight studies in the stage 1 GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4939239/unicode"; rdfs:comment "The stage 1 analysis included 1737 cases and 3602 controls among African Americans drawn from eight studies of lung cancer (Supplementary Table 2a)." . _:19012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3602; "African American lung cancer cases and controls from eight studies in the stage 1 GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4939239/unicode"; rdfs:comment "The stage 1 analysis included 1737 cases and 3602 controls among African Americans drawn from eight studies of lung cancer (Supplementary Table 2a)." . _:19022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AA-NCI"; . _:19032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI"; . _:19042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-AA"; . _:19052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI_Lung"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6459, _:genid-371333f489424440b12a13b9d98ced822608-genid6461, _:genid-371333f489424440b12a13b9d98ced822608-genid6463; , , ; "GCST90435154"; "A cohort of patients with Crohn's disease, ulcerative colitis or unclassified inflammatory bowel disease recruited since 2003 by the genetic research centres of the NIDDK IBD Genetics Consortium in the United States and Canada, with diagnoses confirmed by chart review, for IBD gene discovery."; 11265; "IBD Genetics Consortium", "IBDGC", "Inflammatory Bowel Disease Genetics Consortium", "NIDDK IBDGC", "NIDDK_IBDGC", "National Institute for Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium", "National Institute of Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium"; ; rdfs:label "NIDDK IBD Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6459 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6461 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6463 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6459; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9851382/fullTextXML"; rdfs:comment "The IBDGC cohort was established in 2003, when 6 genetic research centers (GRCs) in the United States and Canada began recruiting patients with confirmed CD, UC, or IBD-U, for IBD gene discovery." . _:19072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6461; "ulcerative colitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9851382/fullTextXML"; rdfs:comment "The IBDGC cohort was established in 2003, when 6 genetic research centers (GRCs) in the United States and Canada began recruiting patients with confirmed CD, UC, or IBD-U, for IBD gene discovery." . _:19082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6463; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9851382/fullTextXML"; rdfs:comment "The IBDGC cohort was established in 2003, when 6 genetic research centers (GRCs) in the United States and Canada began recruiting patients with confirmed CD, UC, or IBD-U, for IBD gene discovery." . _:19092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9851382/fullTextXML"; rdfs:comment "The IBDGC cohort was established in 2003, when 6 genetic research centers (GRCs) in the United States and Canada began recruiting patients with confirmed CD, UC, or IBD-U, for IBD gene discovery.41 Recruitment was unbiased by IBD family history or other clinical factors except that, during the initial 2 years of recruitment (2003–2004), UC proctitis was excluded, and UC cases were preferentially those with extensive disease." . _:190a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435154"; "Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease."; "PMID:38490347", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38490347+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We assembled the largest multicohort data set to date to investigate the clinical, serologic, and genetic factors associated with EIM complications in IBD.MethodsData were available in 12,083 unrelated European ancestry IBD cases with presence or absence of EIMs (eg, ankylosing spondylitis [ankylosing spondylitis and sacroiliitis], primary sclerosing cholangitis [PSC], peripheral arthritis, and skin and ocular manifestations) across 4 cohorts (Cedars-Sinai Medical Center, National Institute for Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium, Sinai Helmsley Alliance for Research Excellence Consortium, and Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease cohort)." . _:190b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with Crohn's disease, ulcerative colitis or unclassified inflammatory bowel disease recruited since 2003 by the genetic research centres of the NIDDK IBD Genetics Consortium in the United States and Canada, with diagnoses confirmed by chart review, for IBD gene discovery."; "PMID:36686985"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:190c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11265; "participants in the NIDDK Central Repository IBDGC collection (cases, controls and family members)"; "https://repository.niddk.nih.gov/study/26"; rdfs:comment "11,265 Participants" . _:190d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBDGC"; . _:190e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIDDK IBDGC"; . _:190f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIDDK_IBDGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6472; , ; ; "GCST90449045"; "A case-control collection of autopsied Alzheimer disease cases and non-demented controls, drawn from longitudinal aging research cohorts at 10 NIA-funded Alzheimer's Disease Centers in the United States and assembled at Oregon Health & Science University for genome-wide association studies of Alzheimer disease and its neuropathology within the Alzheimer's Disease Genetics Consortium."; 187; 429; 616; "OHSU", "Oregon Health & Science University Alzheimer's Disease Center", "Oregon Health Science University"; ; rdfs:label "Oregon Health and Science University study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6472 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6472; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "OHSU: The OHSU dataset includes 132 autopsy-confirmed Alzheimer’s disease cases and 153 deceased controls that were evaluated for dementia within 12 months prior to death (age at death > 65 years)" . _:19112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3048805/unicode"; rdfs:comment "The Oregon Health and Science University (OHSU) were recruited from aging research cohorts at 10 NIA-funded ADCs and do not overlap with other ADGC samples." . _:19122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449045"; "X-chromosome-wide association study for Alzheimer's disease."; "PMID:39633006", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "OHSU: The OHSU dataset includes 132 autopsy-confirmed Alzheimer’s disease cases and 153 deceased controls that were evaluated for dementia within 12 months prior to death (age at death > 65 years)" . _:19132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of autopsied Alzheimer disease cases and non-demented controls, drawn from longitudinal aging research cohorts at 10 NIA-funded Alzheimer's Disease Centers in the United States and assembled at Oregon Health & Science University for genome-wide association studies of Alzheimer disease and its neuropathology within the Alzheimer's Disease Genetics Consortium."; "PMID:20697030"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 187; "Caucasian AD cases and controls in the 2011 ADGC meta-analysis (analysed set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3048805/"; rdfs:comment "OHSU 187 215 87 (7.3) 429 461 86 (7.2) 616 5%" . _:19152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 429; "Caucasian AD cases and controls in the 2011 ADGC meta-analysis (analysed set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3048805/"; rdfs:comment "OHSU 187 215 87 (7.3) 429 461 86 (7.2) 616 5%" . _:19162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 616; "Caucasian AD cases and controls in the 2011 ADGC meta-analysis (analysed set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3048805/"; rdfs:comment "OHSU 187 215 87 (7.3) 429 461 86 (7.2) 616 5%" . _:19172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OHSU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6481, _:genid-371333f489424440b12a13b9d98ced822608-genid6483; , ; , ; "GCST90129599", "PGS005391"; "A sample collected at the University of Munich, Germany, of about 3,000 healthy volunteers of German descent from the Munich area, assessed with structured psychiatric interviews covering themselves and their first-degree relatives, together with about 1,000 patients with schizophrenia and about 300 people with other diagnoses, including Alzheimer's disease patients from the psychiatric memory clinic, used as a case and control resource in genetic studies of psychiatric, neurological and neurodegenerative disorders."; "The acronym PAGES also denotes Paediatric Asthma Gene Environment Study (COHO:0000721); this term is Phenomics and Genomics Sample."@en; 3000; "PAGES", "UM", "University of Munich"; , ; rdfs:label "Phenomics and Genomics Sample"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6481 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6483 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6481; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7579408/fullTextXML"; rdfs:comment "DNA samples from 1,775 unrelated healthy subjects of European ancestry were taken from the Phenomics and Genomics Sample (PAGES), which is comprised of ~3,000 controls, 1,000 schizophrenia patients and 300 individuals with other diagnoses." . _:19192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6483; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7579408/fullTextXML"; rdfs:comment "DNA samples from 1,775 unrelated healthy subjects of European ancestry were taken from the Phenomics and Genomics Sample (PAGES), which is comprised of ~3,000 controls, 1,000 schizophrenia patients and 300 individuals with other diagnoses." . _:191a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7198638/fullTextXML"; rdfs:comment "Healthy volunteers were recruited to the PAGES (Phenomics and Genomics Sample) sample from the Munich greater area and were of German descent." . _:191b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129599"; "Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers."; "PMID:36066633", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9547780/fullTextXML"; rdfs:comment "PAGES" . _:191c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005391"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039" . _:191d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample collected at the University of Munich, Germany, of about 3,000 healthy volunteers of German descent from the Munich area, assessed with structured psychiatric interviews covering themselves and their first-degree relatives, together with about 1,000 patients with schizophrenia and about 300 people with other diagnoses, including Alzheimer's disease patients from the psychiatric memory clinic, used as a case and control resource in genetic studies of psychiatric, neurological and neurodegenerative disorders."; "PMID:32157568", "PMID:33133009", "PMID:35379992"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:191e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "approximate components only: healthy controls, schizophrenia patients, other diagnoses"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7579408/fullTextXML"; rdfs:comment "DNA samples from 1,775 unrelated healthy subjects of European ancestry were taken from the Phenomics and Genomics Sample (PAGES), which is comprised of ~3,000 controls, 1,000 schizophrenia patients and 300 individuals with other diagnoses." . _:191f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGES"; . _:19202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6492; , ; "GCST90132627"; "A study of children and adolescents aged 2–16 years with physician-diagnosed asthma recruited through 15 secondary-care asthma clinics across Scotland from 2008 to 2011, with questionnaire and DNA data to study genetic and environmental influences on asthma and its treatment response."; "The acronym PAGES also denotes Phenomics and Genomics Sample (COHO:0000720); this term is Paediatric Asthma Gene Environment Study."@en; 501; "PAGES", "Pediatric Asthma Gene Environment Study"; ; rdfs:label "Paediatric Asthma Gene Environment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6492 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6492; "asthma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4461653/unicode"; rdfs:comment "The PAGES study recruited children and adolescents (age: 2-16 years) with physician-diagnosed asthma through 15 secondary care asthma clinics across Scotland from 2008 to 2011." . _:19222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4461653/unicode"; rdfs:comment "The PAGES study recruited children and adolescents (age: 2-16 years) with physician-diagnosed asthma through 15 secondary care asthma clinics across Scotland from 2008 to 2011." . _:19232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132627"; "Multi-ancestry genome-wide association study of asthma exacerbations."; "PMID:35754128", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9671132/fullTextXML"; rdfs:comment "Genotyping of samples from BREATHE, PAGES, and GoSHARE was funded by AC15/00015 and conducted at the Genotyping National Centre (CeGEN) CeGen‐PRB3‐ISCIII; supported by ISCIII and European Regional Development Fund (ERDF) (PT17/0019)." . _:19242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of children and adolescents aged 2–16 years with physician-diagnosed asthma recruited through 15 secondary-care asthma clinics across Scotland from 2008 to 2011, with questionnaire and DNA data to study genetic and environmental influences on asthma and its treatment response."; "PMID:25616159"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 501; "children with DNA or questionnaire data at the 2010 interim report (recruitment ongoing)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3019209/fullTextXML"; rdfs:comment "To date 1045 children have been invited to participate and data collected in 501 (48%)." . _:19262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6499, _:genid-371333f489424440b12a13b9d98ced822608-genid6501; , , ; "GCST90435154"; "A prospective inception cohort of patients younger than 18 years with suspected inflammatory bowel disease, enrolled at diagnosis between 2008 and 2012 at 28 sites in the United States and Canada (mostly Crohn's disease, also ulcerative colitis, unclassified IBD and non-inflamed controls), to characterise the natural history of newly diagnosed paediatric Crohn's disease and predict its complications from clinical, serological, genomic and microbial markers at diagnosis."; 1813; "RISK", "RISK study", "Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn’s Disease"; ; rdfs:label "Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6499 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6501 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6499; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28259484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We did a prospective inception cohort study of paediatric patients with newly diagnosed Crohn's disease at 28 sites in the USA and Canada." . _:19282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6501; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28259484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We did a prospective inception cohort study of paediatric patients with newly diagnosed Crohn's disease at 28 sites in the USA and Canada." . _:19292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5719489/unicode"; rdfs:comment "We did an inception cohort study at 28 sites in the USA and Canada." . _:192a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435154"; "Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease."; "PMID:38490347", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38490347+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We assembled the largest multicohort data set to date to investigate the clinical, serologic, and genetic factors associated with EIM complications in IBD.MethodsData were available in 12,083 unrelated European ancestry IBD cases with presence or absence of EIMs (eg, ankylosing spondylitis [ankylosing spondylitis and sacroiliitis], primary sclerosing cholangitis [PSC], peripheral arthritis, and skin and ocular manifestations) across 4 cohorts (Cedars-Sinai Medical Center, National Institute for Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium, Sinai Helmsley Alliance for Research Excellence Consortium, and Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease cohort)." . _:192b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective inception cohort of patients younger than 18 years with suspected inflammatory bowel disease, enrolled at diagnosis between 2008 and 2012 at 28 sites in the United States and Canada (mostly Crohn's disease, also ulcerative colitis, unclassified IBD and non-inflamed controls), to characterise the natural history of newly diagnosed paediatric Crohn's disease and predict its complications from clinical, serological, genomic and microbial markers at diagnosis."; "PMID:28259484"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:192c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1813; "patients under 18 with suspected IBD enrolled at diagnosis, 2008-2012 (all diagnoses and non-inflamed controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5719489/unicode"; rdfs:comment "1813 patients were enrolled in our study (table 1)." . _:192d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RISK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6508, _:genid-371333f489424440b12a13b9d98ced822608-genid6510; , ; ; "GCST90704646"; "A longitudinal research cohort begun in June 2005 by the Texas Alzheimer's Research and Care Consortium, which has enrolled more than 3,600 older adults with Alzheimer's disease, mild cognitive impairment or normal cognition, with deliberate inclusion of Mexican Americans, at the consortium's Texas sites and followed annually with clinical, neuropsychological, genetic and blood biomarker assessments, to improve the diagnosis, treatment and prevention of Alzheimer's disease."; 3600; "TARC", "TARCC"; ; rdfs:label "Texas Harris Alzheimer's Research Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6508 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6510 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:192e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6508; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10379967/fullTextXML"; rdfs:comment "TARCC is a longitudinally followed convenience sample of elderly persons diagnosed with AD, MCI, or control subjects recruited from five Texas medical schools." . _:192f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6510; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10379967/fullTextXML"; rdfs:comment "TARCC is a longitudinally followed convenience sample of elderly persons diagnosed with AD, MCI, or control subjects recruited from five Texas medical schools." . _:19302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10379967/fullTextXML"; rdfs:comment "TARCC is a longitudinally followed convenience sample of elderly persons diagnosed with AD, MCI, or control subjects recruited from five Texas medical schools." . _:19312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "TARCC - Texas Alzheimer's Research and Care Consortium - The Texas Alzheimer’s Research and Care Consortium (TARCC) is funded by the state of Texas through the Texas Council on Alzheimer’s Disease and Related Disorders" . _:19322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal research cohort begun in June 2005 by the Texas Alzheimer's Research and Care Consortium, which has enrolled more than 3,600 older adults with Alzheimer's disease, mild cognitive impairment or normal cognition, with deliberate inclusion of Mexican Americans, at the consortium's Texas sites and followed annually with clinical, neuropsychological, genetic and blood biomarker assessments, to improve the diagnosis, treatment and prevention of Alzheimer's disease."; "PMID:36872777", "https://www.txalzresearch.org/research/the-texas-harris-alzheimers-research-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3600; "study participants enrolled at the TARCC sites (stated as more than 3,600)"; "https://www.txalzresearch.org/research/the-texas-harris-alzheimers-research-study/"; rdfs:comment "Over time, the TARCC sites enrolled a cohort of more than 3,600 study participants representing over 14,500 visits (an average of four annual visits for each subject)." . _:19342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TARC"; . _:19352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TARCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6518, _:genid-371333f489424440b12a13b9d98ced822608-genid6520; , ; "GCST90104462"; "A longitudinal cohort of children at family risk of dyslexia, children with preschool language difficulties and typically developing controls, recruited from about age 3½ in 2007–2009 from York and neighbouring regions of northern England by the University of York and followed to study the development of language, reading and dyslexia."; 260; "York", "York cohort"; ; rdfs:label "Wellcome Language and Reading Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6518 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6520 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6518; "developmental language disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30676649+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We followed children at family risk of dyslexia and children with preschool language difficulties from age 3½, comparing them with controls (N = 234)." . _:19372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6520; "dyslexia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30676649+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We followed children at family risk of dyslexia and children with preschool language difficulties from age 3½, comparing them with controls (N = 234)." . _:19382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6767399/fullTextXML"; rdfs:comment "Families were recruited to the study between 2007 and 2009 from the City of York and neighboring regions within Yorkshire and the northeast of England." . _:19392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The York cohort was funded by Wellcome Trust Grant 082036/B/07/Z." . _:193a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of children at family risk of dyslexia, children with preschool language difficulties and typically developing controls, recruited from about age 3½ in 2007–2009 from York and neighbouring regions of northern England by the University of York and followed to study the development of language, reading and dyslexia."; "PMID:30676649"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:193b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 260; "children recruited in 2007-2009 (family risk, language concerns and typically developing)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6767399/fullTextXML"; rdfs:comment "Of the 260 children recruited, none met exclusionary criteria at t1 (MZ twinning, chronic illness, deafness, English as a second language, care provision by local authority, and known neurological disorders such as cerebral palsy, epilepsy, and autism spectrum disorder)." . _:193c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "York"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6527; , ; "GCST90435154"; "A multicentre prospective observational cohort of patients with inflammatory bowel disease recruited at seven academic medical centres in the United States, collecting longitudinal clinical and phenotypic data and biosamples for clinical outcomes and translational research."; "The acronym SHARE also denotes WHI SNP Health Association Resource (COHO:0000604), SNP Health Association Asthma Resource Project (COHO:0002374) and Survey of Health, Ageing and Retirement in Europe (COHO:0002644); this term is Sinai-Helmsley Alliance for Research Excellence."@en; 5906; "SHARE", "SHARE cohort", "SHARE-IBD", "Sinai Helmsley Alliance for Research Excellence", "Sinai Helmsley Alliance for Research Excellence Consortium"; ; rdfs:label "Sinai-Helmsley Alliance for Research Excellence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6527 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:193d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6527; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7380550/fullTextXML"; rdfs:comment "The SHARE cohort is a national collaboration of 7 academic medical centers that collected longitudinal clinical and phenotypic data on patients with inflammatory bowel disease (IBD)." . _:193e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7380550/fullTextXML"; rdfs:comment "As described previously, SHARE is a multicenter prospective cohort study.12–14 Patients were recruited from 7 academic centers in the United States (US):" . _:193f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435154"; "Comprehensive Association Analyses of Extraintestinal Manifestations in Inflammatory Bowel Disease."; "PMID:38490347", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38490347+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We assembled the largest multicohort data set to date to investigate the clinical, serologic, and genetic factors associated with EIM complications in IBD.MethodsData were available in 12,083 unrelated European ancestry IBD cases with presence or absence of EIMs (eg, ankylosing spondylitis [ankylosing spondylitis and sacroiliitis], primary sclerosing cholangitis [PSC], peripheral arthritis, and skin and ocular manifestations) across 4 cohorts (Cedars-Sinai Medical Center, National Institute for Diabetes and Digestive and Kidney Diseases IBD Genetics Consortium, Sinai Helmsley Alliance for Research Excellence Consortium, and Risk Stratification and Identification of Immunogenetic and Microbial Markers of Rapid Disease Progression in Children with Crohn's Disease cohort)." . _:19402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective observational cohort of patients with inflammatory bowel disease recruited at seven academic medical centres in the United States, collecting longitudinal clinical and phenotypic data and biosamples for clinical outcomes and translational research."; "PMID:32744536"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5906; "patients with IBD in the SHARE cohort data, 2012-2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7380550/fullTextXML"; rdfs:comment "Among 5,906 total patients with IBD, 468 (7.9%) reported a history of a colectomy with an IPAA as a treatment for UC." . _:19422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHARE"; . _:19432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHARE-IBD"; . a owl:NamedIndividual, ; , , ; "GCST90482704"; "A community-based prospective cohort of middle-aged and elderly adults aged 40 and over in Shanghai, China, recruited from February 2009 to study multiple chronic diseases including obesity and metabolic syndrome, diabetes, osteoporosis, liver, cardiovascular and neurological diseases."; 6595; "Changfeng", "Shanghai Changfeng", "Shanghai Changfeng cohort"; ; rdfs:label "Shanghai Changfeng Study"@en . _:19442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21120588+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Shanghai Changfeng Study is a community-based prospective cohort study of chronic diseases ongoing since February 2009 in Shanghai, China." . _:19452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90482704"; "The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture."; "PMID:39574169", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11792254/fullTextXML"; rdfs:comment "In this study, we aimed to conduct a GWAS meta-analysis of the top 10 HSMs, in UKB and Shanghai Changfeng (SC) cohorts, where these HSM have been derived using our novel automated point placement method [1]." . _:19462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort of middle-aged and elderly adults aged 40 and over in Shanghai, China, recruited from February 2009 to study multiple chronic diseases including obesity and metabolic syndrome, diabetes, osteoporosis, liver, cardiovascular and neurological diseases."; "PMID:21120588"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6595; "community residents aged 45 or over enrolled at baseline, June 2009 to December 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6841746/fullTextXML"; rdfs:comment "From June 2009 to December 2012, 6595 residents were enrolled." . _:19482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Changfeng"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6540, _:genid-371333f489424440b12a13b9d98ced822608-genid6542; , ; , , ; "GCST90162551"; "A study begun in 2001 as a National Cancer Institute programme project in which nicotine-dependent smokers and non-dependent smoking controls were recruited from communities in Detroit and St. Louis, United States, to identify genetic factors in nicotine dependence."; 2673; "COGEND"; ; rdfs:label "Collaborative Genetic Study of Nicotine Dependence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6540 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6542 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6540; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372058/fullTextXML"; rdfs:comment "Nicotine dependent cases and non-dependent smoking controls were identified and recruited from Detroit and St. Louis." . _:194a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6542; "nicotine dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372058/fullTextXML"; rdfs:comment "COGEND was initiated in 2001 as a genetic study of nicotine dependence20,21." . _:194b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372058/fullTextXML"; rdfs:comment "Nicotine dependent cases and non-dependent smoking controls were identified and recruited from Detroit and St. Louis." . _:194c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90162551"; "GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing."; "PMID:35953715", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9372058/fullTextXML"; rdfs:comment "Collaborative Genetic Study of Nicotine Dependence (COGEND)20,21, Genetic Epidemiology of COPD (COPDGene) study22, and Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE)23." . _:194d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study begun in 2001 as a National Cancer Institute programme project in which nicotine-dependent smokers and non-dependent smoking controls were recruited from communities in Detroit and St. Louis, United States, to identify genetic factors in nicotine dependence."; "PMID:21968928"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:194e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2673; "array-genotyped COGEND participants (European and African American); an analysed/genotyped subset"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9372058/"; rdfs:comment "COGEND COPDGene ECLIPSE Array type Illumina HumanOmni2.5 Illumina HumanOmni1-Quad_v1-0_B Illumina HumanHap550v3.0 Array-genotyped data N, SNPs 2,443,179 1,051,295 561,466 Participants, total N 2,673 9,962 2,159" . _:194f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGEND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6549; , ; "GCST90841457"; "A prospective cohort of Mediterranean (southern European) pregnant women attending the Diabetes and Pregnancy Unit of Hospital Universitario Virgen de la Victoria in Málaga, Spain, after a positive glucose screening test, recruited from 2019 with and without gestational diabetes and followed with their offspring to one year after birth, to study the effect of gestational diabetes on the epigenome of mother and child during the first 1000 days."; 200; "EPIDG", "EPIDG study", "Effect of gestational diabetes on the epigenome of the mother and the offspring during the first 1000 days"; ; rdfs:label "EPIDG cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6549 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6549; "gestational diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11730480/fullTextXML"; rdfs:comment "Samples were drawn from the EPIDG cohort, comprising women with and without GDM." . _:19512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10865541/fullTextXML"; rdfs:comment "The EPIDG cohort has a total of 230 Mediterranean (South European) pregnant women who attended the Unit of Diabetes and Pregnancy at University Hospital Virgen de la Victoria, Málaga, Spain." . _:19522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841457"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "EPIDG Maternal - GDM, FG, 1hG, 2hG and HbA1c 2019-2023 Spain" . _:19532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of Mediterranean (southern European) pregnant women attending the Diabetes and Pregnancy Unit of Hospital Universitario Virgen de la Victoria in Málaga, Spain, after a positive glucose screening test, recruited from 2019 with and without gestational diabetes and followed with their offspring to one year after birth, to study the effect of gestational diabetes on the epigenome of mother and child during the first 1000 days."; "PMID:36421415", "PMID:39408904", "PMID:39806399"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "pregnant women included January 2019 to February 2022"; "PMID:36421415"; rdfs:comment "Two-hundred women were included from January 2019 to February 2022 as follows: Control group -CG-, Lifestyle group -LG- (GDM not requiring insulin), and Insulin group -IG- (GDM requiring insulin)." . _:19552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIDG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6556, _:genid-371333f489424440b12a13b9d98ced822608-genid6558; , ; , ; "GCST90095033"; "A multicentre family-based and case-control study of European American, African American, Mexican American and American Indian people with diabetes, with and without diabetic nephropathy, and their relatives, recruited at eight US clinical centres to identify genetic determinants of diabetic nephropathy."; "FIND", "The Family Investigation of Nephropathy and Diabetes"; ; rdfs:label "Family Investigation of Nephropathy and Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6556 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6558 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6556; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15642484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Family Investigation of Nephropathy and Diabetes (FIND) is a multicenter study designed to identify genetic determinants of diabetic nephropathy." . _:19572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6558; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15642484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Family Investigation of Nephropathy and Diabetes (FIND) is a multicenter study designed to identify genetic determinants of diabetic nephropathy." . _:19582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15642484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "It is conducted in eight U.S. clinical centers and a coordinating center, and with four ethnic groups (European Americans, African Americans, Mexican Americans, and American Indians)." . _:19592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "We meta-analyzed effects across all studies using a fixed-effect inverse variance weighted meta-analysis with genomic control in METAL.32 Given the unique patterns of admixture and ancestry represented by the Brazilian or Native American samples, we conducted sensitivity analyses in stage 1 studies (i.e., comparing the inclusion and exclusion of the Baependi Heart Study, the 1982 Pelotas Birth Cohort Study, and the Family Investigation of Nephropathy and Diabetes substudy of individuals of Pima and Zuni heritage) to assess the influence of these three studies on the meta-analysis results." . _:195a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre family-based and case-control study of European American, African American, Mexican American and American Indian people with diabetes, with and without diabetic nephropathy, and their relatives, recruited at eight US clinical centres to identify genetic determinants of diabetic nephropathy."; "PMID:15642484"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:195b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6564, _:genid-371333f489424440b12a13b9d98ced822608-genid6566, _:genid-371333f489424440b12a13b9d98ced822608-genid6568, _:genid-371333f489424440b12a13b9d98ced822608-genid6570, _:genid-371333f489424440b12a13b9d98ced822608-genid6572, _:genid-371333f489424440b12a13b9d98ced822608-genid6574; , , , , , , ; , ; "GCST90104030"; "An international study, recruiting since 2015, of critically ill patients in intensive care units in the United Kingdom and other countries, with conditions such as sepsis, acute respiratory distress syndrome and influenza and, from 2020, critical COVID-19, whose genomes are compared with those of population controls to find host genetic factors and disease mechanisms underlying critical illness."; 11440; 11440; "GenOMICC", "GenOMICC study", "Genetics Of Mortality in Critical Care", "Genetics of Mortality in Critical Care", "genomicc"; ; rdfs:label "Genetics Of Mortality In Critical Care"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6564 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6566 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6568 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6570 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6572 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6574 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:195c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6564; "pancreatitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:195d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6566; "influenza"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:195e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6568; "acute respiratory distress syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:195f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6570; "Group A Strep"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:19602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6572; "critical COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:19612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6574; "sepsis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:19622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10208981/supplementaryFiles"; rdfs:comment "GenOMICC (meta-analysis of European, South Asian, East Asian and African ancestries recruited in UK and Ireland), GenOMICC Saudi Arabia, GenOMICC Brazil, HGI v6, SCOURGE and 23andMe (meta-analysis of Latino, European and African ancestries for 23andMe summary statistics)." . _:19632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104030"; "Whole-genome sequencing reveals host factors underlying critical COVID-19."; "PMID:35255492", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35255492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms." . _:19642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international study, recruiting since 2015, of critically ill patients in intensive care units in the United Kingdom and other countries, with conditions such as sepsis, acute respiratory distress syndrome and influenza and, from 2020, critical COVID-19, whose genomes are compared with those of population controls to find host genetic factors and disease mechanisms underlying critical illness."; "PMID:35255492", "PMID:37198478", "https://genomicc.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11440; "GenOMICC critical COVID-19 cases analysed in the 2023 GWAS (analysed subset)"; "PMID:37198478"; rdfs:comment "Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases)." . _:19662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11440; "GenOMICC critical COVID-19 cases analysed in the 2023 GWAS (analysed subset)"; "PMID:37198478"; rdfs:comment "Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases)." . _:19672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenOMICC"; . _:19682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "genomicc"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6583, _:genid-371333f489424440b12a13b9d98ced822608-genid6585, _:genid-371333f489424440b12a13b9d98ced822608-genid6587; , , ; "GCST012467"; "A collaborative genotyping experiment of four cancer genetics consortia, studying breast cancer (the Breast Cancer Association Consortium), ovarian cancer, prostate cancer, and breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers, funded by the EU Seventh Framework Programme, which genotyped samples from their member studies on a custom Illumina iSelect array (iCOGS) of more than 200,000 SNPs to identify cancer susceptibility loci."; "The acronym COGS also denotes Colorectal Cancer Genetic Susceptibility Study (COHO:0001603); this term is Collaborative Oncological Gene-environment Study."@en; 239832; "COGES", "COGS", "Collaborative Oncological Gene-Environment Study", "Collaborative Oncology Gene-Environment Study", "Collaborative Oncology Gene-environment Study", "International Collaborative Oncology Gene-environment Study", "iCOGS"; ; rdfs:label "Collaborative Oncological Gene-environment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6583 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6585 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6583; "breast cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3771688/unicode"; rdfs:comment "To evaluate these SNPs, we then designed a custom Illumina iSelect genotyping array (iCOGS) in collaboration with three other consortia studying, in addition to breast cancer risk, susceptibility to ovarian cancer, prostate cancer and breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers (COGS)." . _:196a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6585; "ovarian cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3771688/unicode"; rdfs:comment "To evaluate these SNPs, we then designed a custom Illumina iSelect genotyping array (iCOGS) in collaboration with three other consortia studying, in addition to breast cancer risk, susceptibility to ovarian cancer, prostate cancer and breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers (COGS)." . _:196b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6587; "prostate cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3771688/unicode"; rdfs:comment "To evaluate these SNPs, we then designed a custom Illumina iSelect genotyping array (iCOGS) in collaboration with three other consortia studying, in addition to breast cancer risk, susceptibility to ovarian cancer, prostate cancer and breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers (COGS)." . _:196c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4754625/unicode"; rdfs:comment "Recently, new risk-associated variants have been identified in a large-scale replication study conducted by the Breast Cancer Association Consortium (BCAC) as part of the Collaborative Oncological Gene-Environment Study (COGS)." . _:196d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3836481/fullTextXML"; rdfs:comment "The Illumina™ “iCOGS” custom genotyping chip (28) was designed as a collaborative project, principally involving four international consortia; the Breast Cancer Association Consortium (BCAC) (29) (http://ccge.medschl.cam.ac.uk/consortia/bcac/), the Ovarian Cancer Association Consortium (OCAC) (30)" . _:196e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4445140/"; rdfs:comment "Women diagnosed with EOC and unaffected women from the general population ascertained through the Ovarian Cancer Association Consortium (OCAC)14 and BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)15 were genotyped as part of the Collaborative Oncological Gene-environment Study (COGS) using the iCOGS custom array." . _:196f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST012467"; "Identification of a Locus Near ULK1 Associated With Progression-Free Survival in Ovarian Cancer."; "PMID:34162658", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8419101/unicode"; rdfs:comment "additional OCAC patients genotyped in the COGS study (n=317 for OS, 303 for PFS)" . _:19702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative genotyping experiment of four cancer genetics consortia, studying breast cancer (the Breast Cancer Association Consortium), ovarian cancer, prostate cancer, and breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers, funded by the EU Seventh Framework Programme, which genotyped samples from their member studies on a custom Illumina iSelect array (iCOGS) of more than 200,000 SNPs to identify cancer susceptibility loci."; "PMID:23535729", "PMID:35418701"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 239832; "individuals (samples) genotyped in COGS across the four consortia, 167 research groups (2011)"; "https://cordis.europa.eu/project/id/223175/reporting"; rdfs:comment "In all, we included 239,832 individuals from 167 research groups in COGS." . _:19722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGES"; . _:19732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGS"; . _:19742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iCOGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6598; , ; , ; "GCST90504004"; "A population-based case-control study of colon cancer in Kentucky, United States, that recruited incident cases through the Kentucky Cancer Registry and population controls by random-digit dialling from 2003 to 2010, to study genetic and environmental risk factors for colon cancer."; 1093; 1589; "KCCS", "Kentucky", "Kentucky case-control study"; ; rdfs:label "Kentucky Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6598 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6598; "colon cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4045458/unicode"; rdfs:comment "The study population consisted of 1,062 newly diagnosed colon cancer cases (rectal cases excluded) identified and referred by the Kentucky Cancer Registry, a participant in the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) Program as well as the Centers for Disease Control and Prevention’s National Program of Cancer Registries." . _:19762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4045458/unicode"; rdfs:comment "All participants were residents of Kentucky." . _:19772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "Kentucky: We would like to acknowledge the staff at the Kentucky Cancer Registry." . _:19782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of colon cancer in Kentucky, United States, that recruited incident cases through the Kentucky Cancer Registry and population controls by random-digit dialling from 2003 to 2010, to study genetic and environmental risk factors for colon cancer."; "PMID:24611536"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1093; "incident colon cancer cases and population controls analysed (analysed subset), 2010"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4136492/"; rdfs:comment "We analyzed data for 1,093 incident cases and 1,589 controls in a population-based case-control study of colon cancer to further clarify the GL-colon cancer relationship." . _:197a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1589; "incident colon cancer cases and population controls analysed (analysed subset), 2010"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4136492/"; rdfs:comment "We analyzed data for 1,093 incident cases and 1,589 controls in a population-based case-control study of colon cancer to further clarify the GL-colon cancer relationship." . _:197b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6606, _:genid-371333f489424440b12a13b9d98ced822608-genid6608, _:genid-371333f489424440b12a13b9d98ced822608-genid6610, _:genid-371333f489424440b12a13b9d98ced822608-genid6612, _:genid-371333f489424440b12a13b9d98ced822608-genid6614, _:genid-371333f489424440b12a13b9d98ced822608-genid6616; , ; ; "GCST90095033"; "A population-based cohort of 6,357 Latinos aged 40 years and older, mostly of Mexican origin, from six census tracts in Los Angeles, California, United States, examined from 2000 to assess the prevalence and risk factors of visual impairment and eye diseases such as cataract, glaucoma, diabetic retinopathy and age-related macular degeneration."; 6357; "LALES"; ; rdfs:label "Los Angeles Latino Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6606 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6608 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6610 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6612 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6614 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6616 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:197c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6606; "visual impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the study design, operational strategies, procedures, and baseline characteristics of the Los Angeles Latino Eye Study (LALES), a population-based assessment of the prevalence of visual impairment, ocular disease, and visual functioning in Latinos." . _:197d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6608; "blindness"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the study design, operational strategies, procedures, and baseline characteristics of the Los Angeles Latino Eye Study (LALES), a population-based assessment of the prevalence of visual impairment, ocular disease, and visual functioning in Latinos." . _:197e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6610; "glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the study design, operational strategies, procedures, and baseline characteristics of the Los Angeles Latino Eye Study (LALES), a population-based assessment of the prevalence of visual impairment, ocular disease, and visual functioning in Latinos." . _:197f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6612; "cataract"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the study design, operational strategies, procedures, and baseline characteristics of the Los Angeles Latino Eye Study (LALES), a population-based assessment of the prevalence of visual impairment, ocular disease, and visual functioning in Latinos." . _:19802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6614; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the study design, operational strategies, procedures, and baseline characteristics of the Los Angeles Latino Eye Study (LALES), a population-based assessment of the prevalence of visual impairment, ocular disease, and visual functioning in Latinos." . _:19812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6616; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the study design, operational strategies, procedures, and baseline characteristics of the Los Angeles Latino Eye Study (LALES), a population-based assessment of the prevalence of visual impairment, ocular disease, and visual functioning in Latinos." . _:19822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15177962+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Six thousand three hundred fifty-seven Latinos 40 years and older from 6 census tracts in Los Angeles, California." . _:19832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES)" . _:19842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 6,357 Latinos aged 40 years and older, mostly of Mexican origin, from six census tracts in Los Angeles, California, United States, examined from 2000 to assess the prevalence and risk factors of visual impairment and eye diseases such as cataract, glaucoma, diabetic retinopathy and age-related macular degeneration."; "PMID:15177962"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6357; "eligible Latinos aged 40+ who had a baseline clinical examination"; "PMID:15177962"; rdfs:comment "Of the 7789 individuals eligible for LALES, 6357 (82%) had a clinical examination; an additional 524 completed only an in-home interview." . _:19862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LALES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6623; , ; "GCST90095033", "PGS005201"; "A case-control collection of Mexican adults with hypertriglyceridaemia and normotriglyceridaemic controls recruited at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City, Mexico, for the first genome-wide association study of lipids in Mexicans."; 4400; "MHC", "MHS", "MexHTG", "MexTG", "Mexican Hypertriglyceridemia cohort", "Mexican hypertriglyceridemia"; , ; rdfs:label "Mexican Hypertriglyceride Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6623 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6623; "hypertriglyceridemia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3917605/unicode"; rdfs:comment "It is also worth noting that unlike the study samples of the European GWA consortia that are predominantly from unascertained population-based cohorts or from case-control studies ascertained for a non-lipid trait (e.g. type 2 diabetes), the Mexican GWA study sample was specifically ascertained for hypertriglyceridemia." . _:19882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3917605/unicode"; rdfs:comment "All participants were recruited at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ), Mexico City." . _:19892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/supplementaryFiles"; rdfs:comment "MHS Mexican Hypertriglyceride Study Case-control Departamento de Endocrinología y Metabolismo of the Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico" . _:198a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005201"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:198b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Mexican adults with hypertriglyceridaemia and normotriglyceridaemic controls recruited at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City, Mexico, for the first genome-wide association study of lipids in Mexicans."; "PMID:23505323"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:198c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4400; "Mexican hypertriglyceridaemic cases and normotriglyceridaemic controls in GWAS stages 1 and 2"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3917605/unicode"; rdfs:comment "A total of 4,400 Mexican hypertriglyceridemic cases and normotriglyceridemic controls were included in stage 1 and 2 (see Supplementary Table 1 for clinical characteristics)." . _:198d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHC"; . _:198e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHS"; . _:198f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MexHTG"; . _:19902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MexTG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6634; , ; "GCST90095033"; "A population-based multiethnic case-control study of breast cancer in the San Francisco Bay Area, California, in which women aged 35–79 diagnosed with invasive breast cancer in 1995–2002 were identified through the Greater Bay Area Cancer Registry and controls were identified by random-digit dialing and matched on 5-year age group."; 2258; 2706; "SFBCS"; ; rdfs:label "San Francisco Bay Area Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6634 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6634; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4204111/fullTextXML"; rdfs:comment "The SFBCS is a population-based multiethnic case–control study of breast cancer" . _:19922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4204111/fullTextXML"; rdfs:comment "We initially performed a GWAS of Latina women from the San Francisco Bay Area including 977 cases and 722 controls, from the San Francisco Bay Area Breast Cancer Study (SFBCS), the Northern California site of the Breast Cancer Family Registry (NC-BCFR) and the Genetics of Asthma in Latino Americans (GALA1, controls)." . _:19932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/supplementaryFiles"; rdfs:comment "The San Francisco Bay Area Breast Cancer Study (SFBCS) was supported by grants R01 CA63446 and R01 CA77305 from the National Cancer Institute" . _:19942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based multiethnic case-control study of breast cancer in the San Francisco Bay Area, California, in which women aged 35–79 diagnosed with invasive breast cancer in 1995–2002 were identified through the Greater Bay Area Cancer Registry and controls were identified by random-digit dialing and matched on 5-year age group."; "PMID:25327703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2258; "cases and controls who completed the in-person interview (2004)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5943543/fullTextXML"; rdfs:comment "Of those selected, 2258 (88%) completed an in‐person interview, including 1119 (89%) Hispanic, 543 (87%) African American, and 596 (86%) NHW cases." . _:19962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2706; "cases and controls who completed the in-person interview (2004)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5943543/fullTextXML"; rdfs:comment "Of those selected, 2258 (88%) completed an in‐person interview, including 1119 (89%) Hispanic, 543 (87%) African American, and 596 (86%) NHW cases." . _:19972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SFBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6642; , , ; , , ; ; "GCST90255648"; "A consortium formed under the Slim Initiative in Genomic Medicine for the Americas that pooled type 2 diabetes case-control samples of Mexicans and other Latin Americans from the Diabetes in Mexico Study, the Mexico City Diabetes Study, the Multiethnic Cohort Study and the UNAM/INCMNSZ Diabetes Study to characterise the genetic basis of type 2 diabetes in Mexican and Latin American populations."; 3848; 4366; 8214; "SIGMA", "SIGMA Type 2 Diabetes Genetics Consortium", "Slim Initiative for Genomic Medicine in the Americas", "Slim Initiative in Genomic Medicine for the Americas", "Slim Initiative in Genomic Medicine for the Americas Type 2 Diabetes Consortium", "T2D SIGMA Studies"; ; rdfs:label "SIGMA Type 2 Diabetes Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6642 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6642; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24390345+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we analysed 9.2 million single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls." . _:19992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4880969/fullTextXML"; rdfs:comment "The Sigma Project comprises four databases: DMS (Diabetes in Mexico Study), MCDS (Mexico City Diabetes Study), MEC (Multiethnic Cohort) and UIDS (UNAM/INCMNSZ Diabetes Study)." . _:199a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4880969/fullTextXML"; rdfs:comment "The Sigma Project comprises four databases: DMS (Diabetes in Mexico Study), MCDS (Mexico City Diabetes Study), MEC (Multiethnic Cohort) and UIDS (UNAM/INCMNSZ Diabetes Study)." . _:199b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9140925/fullTextXML"; rdfs:comment "The GWAS SIGMA project used Mexican and Latin American populations described in Section 2: the Diabetes in Mexico Study (DMS), the Mexico City Diabetes Study (MCDS), the Multiethnic Cohort (MEC), and the UNAM/INCMNSZ Diabetes Study (UIDS)." . _:199c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4127086/unicode"; rdfs:comment "Mexico City Diabetes Study (MCDS) Mexico City, Mexico Prospective Cohort Controls 613 (790) 39.3% 62.5 ± 7.7 – 29.4 ± 4.8 5.0 ± 0.5 T2D Cases 287 (358) 41.1% 64.2 ± 7.5 55.1 ± 9.7 29.9 ± 5.4 – Multiethnic Cohort (MEC) Los Angeles, California, USA" . _:199d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255648"; "The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes."; "PMID:37148359", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244266/fullTextXML"; rdfs:comment "We aggregated data from six Latino cohorts with a sample size of 18,885 individuals (8150 with type 2 diabetes [cases] and 10,735 without [controls]): the Slim Initiative for Genomic Medicine in the Americas (SIGMA) [1–3]; the Mexican Biobank (MXBB) [10]; the Mass General Brigham (MGB) Biobank [11]; and the Genetic Epidemiology Research on Aging (GERA) [12] (Fig. 1 and ESM Table 1)." . _:199e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium formed under the Slim Initiative in Genomic Medicine for the Americas that pooled type 2 diabetes case-control samples of Mexicans and other Latin Americans from the Diabetes in Mexico Study, the Mexico City Diabetes Study, the Multiethnic Cohort Study and the UNAM/INCMNSZ Diabetes Study to characterise the genetic basis of type 2 diabetes in Mexican and Latin American populations."; "PMID:24390345"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:199f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3848; "Mexicans and other Latin Americans in the 2014 SIGMA type 2 diabetes GWAS (cases and controls)"; "PMID:24390345"; rdfs:comment "Here we analysed 9.2 million single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls." . _:19a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4366; "Mexicans and other Latin Americans in the 2014 SIGMA type 2 diabetes GWAS (cases and controls)"; "PMID:24390345"; rdfs:comment "Here we analysed 9.2 million single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls." . _:19a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8214; "Mexicans and other Latin Americans in the 2014 SIGMA type 2 diabetes GWAS (cases and controls)"; "PMID:24390345"; rdfs:comment "Here we analysed 9.2 million single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls." . _:19a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIGMA"; . _:19a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T2D SIGMA Studies"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6655; , ; "GCST90095033"; "A case-control sample of 898 Mexican adults with type 2 diabetes and 889 controls, covered by the Mexican Social Security Institute and studied through the Medical Center Siglo XXI in Mexico City, Mexico, used in genome-wide association studies of lipid traits and type 2 diabetes."; "The acronym MC and the name Mexico City, the PGS Catalog’s id and name for the two Mexico City samples together, also denote Mexico City sample 1 (COHO:0000738); this term is Mexico City sample 2."@en; 898; 889; 1787; "MC", "Mexico City", "Mexico City 2", "Mexico City-sample 2"; ; rdfs:label "Mexico City sample 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6655 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6655; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4726092/fullTextXML"; rdfs:comment "Mexico City-sample 2: This sample comprises 898 individuals with type 2 diabetes and 889 controls." . _:19a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4726092/fullTextXML"; rdfs:comment "In a first stage, we carried out a meta-analysis of lipid traits based on three samples of Mexican ancestry (from Mexico City and Starr County, Texas) comprising 4,383 individuals." . _:19a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/supplementaryFiles"; rdfs:comment "Mexico City 2 Mexico City sample 2 1787 Total sample 898 T2D patients 889 controls" . _:19a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of 898 Mexican adults with type 2 diabetes and 889 controls, covered by the Mexican Social Security Institute and studied through the Medical Center Siglo XXI in Mexico City, Mexico, used in genome-wide association studies of lipid traits and type 2 diabetes."; "PMID:26780889"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 898; "individuals in the sample (type 2 diabetes cases and controls), lipid GWAS Table 1"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4726092/fullTextXML"; rdfs:comment "Mexico City 1*Mexico City 2*Starr CountyN (F, M)1310 (833,477)1787 (895,892)1286 (858,428)" . _:19a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 889; "individuals in the sample (type 2 diabetes cases and controls), lipid GWAS Table 1"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4726092/fullTextXML"; rdfs:comment "Mexico City 1*Mexico City 2*Starr CountyN (F, M)1310 (833,477)1787 (895,892)1286 (858,428)" . _:19aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1787; "individuals in the sample (type 2 diabetes cases and controls), lipid GWAS Table 1"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4726092/fullTextXML"; rdfs:comment "Mexico City 1*Mexico City 2*Starr CountyN (F, M)1310 (833,477)1787 (895,892)1286 (858,428)" . _:19ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MC"; . _:19ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mexico City 2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6665; , ; "GCST90095033"; "A case-control sample of 967 Mexican adults with type 2 diabetes, preferentially diagnosed before age 55, and 343 normoglycaemic controls from Mexico City, Mexico, who are covered by the Mexican Social Security Institute and were recruited at the Medical Center Siglo XXI, used in genome-wide association studies of type 2 diabetes and lipid traits."; "The acronym MC and the name Mexico City, the PGS Catalog’s id and name for the two Mexico City samples together, also denote Mexico City sample 2 (COHO:0000737); this term is Mexico City sample 1."@en; 989; 345; 1334; "MC", "Mexico City", "Mexico City 1", "Mexico City-sample 1"; ; rdfs:label "Mexico City sample 1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6665 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6665; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4726092/fullTextXML"; rdfs:comment "Mexico City-sample 1: This sample comprises 967 individuals with type 2 diabetes and 343 controls." . _:19ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3818640/unicode"; rdfs:comment "The cases were recruited in Mexico City, with selection based on type 2 diabetes age at diagnosis, preference being given to participants aged <55 years at diagnosis." . _:19af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/supplementaryFiles"; rdfs:comment "Mexico City 1 Mexico City sample 1 Individuals from Mexico City who are covered by the Mexican Social Security Institute (IMSS) Case/control study focused on type 2 diabetes (T2D)" . _:19b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of 967 Mexican adults with type 2 diabetes, preferentially diagnosed before age 55, and 343 normoglycaemic controls from Mexico City, Mexico, who are covered by the Mexican Social Security Institute and were recruited at the Medical Center Siglo XXI, used in genome-wide association studies of type 2 diabetes and lipid traits."; "PMID:21573907", "PMID:26780889", "PMID:35399580"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 989; "individuals who took part (type 2 diabetes cases and normoglycaemic controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3818640/unicode"; rdfs:comment "A total of 1,334 individuals participated in this study, 989 cases and 345 normoglycaemic controls." . _:19b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 345; "individuals who took part (type 2 diabetes cases and normoglycaemic controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3818640/unicode"; rdfs:comment "A total of 1,334 individuals participated in this study, 989 cases and 345 normoglycaemic controls." . _:19b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1334; "individuals who took part (type 2 diabetes cases and normoglycaemic controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3818640/unicode"; rdfs:comment "A total of 1,334 individuals participated in this study, 989 cases and 345 normoglycaemic controls." . _:19b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MC"; . _:19b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mexico City 1"; . a owl:NamedIndividual, ; , ; , ; "GCST90095033"; "A population-based birth cohort of the 5,914 live births in 1982 to families living in the urban area of Pelotas, a city in southern Brazil, followed through repeated interviews and a clinic visit at about age 30 covering mental health, body composition, precursors of chronic disease and human capital."; 5914; "1982 PELOTAS", "1982 Pelotas (Brazil) birth cohort study", "1982 Pelotas Birth Cohort Study", "1982 Pelotas birth cohort", "PELOTAS", "Pelotas (Brazil) Birth Cohort Study", "Pelotas 1982 birth cohort", "Pelotas Birth Cohort Study", "Pelotas birth cohort study"; ; rdfs:label "1982 Pelotas (Brazil) Birth Cohort Study"@en . _:19b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9952852/unicode"; rdfs:comment "The 1982 Pelotas birth cohort study was conducted in Pelotas, a city in southern Brazil, with 340,000 inhabitants (Fig. 1)." . _:19b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095033"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "We meta-analyzed effects across all studies using a fixed-effect inverse variance weighted meta-analysis with genomic control in METAL.32 Given the unique patterns of admixture and ancestry represented by the Brazilian or Native American samples, we conducted sensitivity analyses in stage 1 studies (i.e., comparing the inclusion and exclusion of the Baependi Heart Study, the 1982 Pelotas Birth Cohort Study, and the Family Investigation of Nephropathy and Diabetes substudy of individuals of Pima and Zuni heritage) to assess the influence of these three studies on the meta-analysis results." . _:19b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based birth cohort of the 5,914 live births in 1982 to families living in the urban area of Pelotas, a city in southern Brazil, followed through repeated interviews and a clinic visit at about age 30 covering mental health, body composition, precursors of chronic disease and human capital."; "PMID:25733577"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5914; "live births enrolled in 1982"; "PMID:25733577"; rdfs:comment "In 1982, 5914 live births whose families lived in the urban are of Pelotas were enrolled in the cohort." . _:19ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "1982 PELOTAS"; . _:19bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PELOTAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6681, _:genid-371333f489424440b12a13b9d98ced822608-genid6683, _:genid-371333f489424440b12a13b9d98ced822608-genid6685; ; , ; ; "PMID:38381478"; "A prospective cohort of 57,310 licensed pesticide applicators enrolled in Iowa and North Carolina, United States, in 1993–1997, together with their spouses, who reported detailed pesticide use and agricultural practices and are followed through follow-up questionnaires and cancer registry linkages to study the health effects of agricultural exposures, including cancer."; "The acronym AHS also denotes Agricultural Lung Health Study (COHO:0000741); this term is Agricultural Health Study."@en; 57310; "AHS"; rdfs:label "Agricultural Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6683 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6685 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6681; "pesticide use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10880817/fullTextXML"; rdfs:comment "The AHS is a prospective cohort that includes 57,310 licensed pesticide applicators enrolled in Iowa or North Carolina between 1993 and 1997." . _:19bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6683; "agricultural practices"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10880817/fullTextXML"; rdfs:comment "The AHS is a prospective cohort that includes 57,310 licensed pesticide applicators enrolled in Iowa or North Carolina between 1993 and 1997." . _:19be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6685; "atrazine"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10880817/fullTextXML"; rdfs:comment "The AHS is a prospective cohort that includes 57,310 licensed pesticide applicators enrolled in Iowa or North Carolina between 1993 and 1997." . _:19bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10880817/fullTextXML"; rdfs:comment "The AHS is a prospective cohort that includes 57,310 licensed pesticide applicators enrolled in Iowa or North Carolina between 1993 and 1997.20 Each participant completed a self-administered questionnaire on detailed information about pesticide use, agricultural practices, demographic characteristics, and personal and family medical history." . _:19c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38381478"; "An Updated Evaluation of Atrazine-Cancer Incidence Associations among Pesticide Applicators in the Agricultural Health Study Cohort."; "PMID:38381478", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10880817/fullTextXML"; rdfs:comment "The AHS is a prospective cohort that includes 57,310 licensed pesticide applicators enrolled in Iowa or North Carolina between 1993 and 1997." . _:19c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of 57,310 licensed pesticide applicators enrolled in Iowa and North Carolina, United States, in 1993–1997, together with their spouses, who reported detailed pesticide use and agricultural practices and are followed through follow-up questionnaires and cancer registry linkages to study the health effects of agricultural exposures, including cancer."; "PMID:32381493", "PMID:38381478"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 57310; "licensed pesticide applicators enrolled 1993-1997 (enrolled spouses not included)"; "PMID:38381478"; rdfs:comment "The AHS is a prospective cohort that includes 57,310 licensed pesticide applicators enrolled in Iowa or North Carolina between 1993 and 1997." . _:19c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6692, _:genid-371333f489424440b12a13b9d98ced822608-genid6694; , ; ; "GCST90244092"; "A case-control study of current adult asthma nested within the Agricultural Health Study, which enrolled 3,301 farmers and their spouses from Iowa and North Carolina, United States, in 2009–2013, collecting pulmonary function, atopy and blood or saliva samples during home visits, to study farm exposures, asthma and lung function."; "The acronym AHS also denotes Agricultural Health Study (COHO:0000740); this term is Agricultural Lung Health Study."@en; 2078; 3301; "AHS", "ALHS"; ; rdfs:label "Agricultural Lung Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6692 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6694 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6692; "farm exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10011137/supplementaryFiles"; rdfs:comment "The Agricultural Lung Health Study (ALHS) is a case-control study of current asthma among farmers and their spouses nested within the prospective Agricultural Health Study (AHS data releases P3REL201209.00, PIREL201209.00 and AHSREL201304.00)" . _:19c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6694; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7469973/fullTextXML"; rdfs:comment "Participants were enroled in the Agricultural Lung Health Study (ALHS), a case-control study of adult current asthma nested within the Agricultural Health Study (AHS)." . _:19c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32381493+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "among 2286 participants in a case-control study of current adult asthma nested within a United States agricultural cohort." . _:19c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7469973/fullTextXML"; rdfs:comment "Participants were enroled in the Agricultural Lung Health Study (ALHS), a case-control study of adult current asthma nested within the Agricultural Health Study (AHS)." . _:19c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244092"; "Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk."; "PMID:36914875", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10011137/supplementaryFiles"; rdfs:comment "The Agricultural Lung Health Study (ALHS) is a case-control study of current asthma among farmers and their spouses nested within the prospective Agricultural Health Study (AHS data releases P3REL201209.00, PIREL201209.00 and AHSREL201304.00)" . _:19c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of current adult asthma nested within the Agricultural Health Study, which enrolled 3,301 farmers and their spouses from Iowa and North Carolina, United States, in 2009–2013, collecting pulmonary function, atopy and blood or saliva samples during home visits, to study farm exposures, asthma and lung function."; "PMID:32381493", "PMID:36914875"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2078; "farmers and spouses enrolled 2009-2013"; "PMID:32381493"; rdfs:comment "The ALHS enroled 3301 participants in the period 2009–2013." . _:19cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3301; "farmers and spouses enrolled 2009-2013"; "PMID:32381493"; rdfs:comment "The ALHS enroled 3301 participants in the period 2009–2013." . _:19cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHS"; . _:19cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALHS"; . a owl:NamedIndividual, ; , ; "GCST90432107"; "A research cohort of customers of the AncestryDNA consumer genetic testing service who consented to AncestryDNA's Human Diversity Project and contribute genotype data and survey responses to genetic studies, including a COVID-19 survey of US-based adult customers used in genome-wide association studies of COVID-19 and influenza outcomes."; 736723; "AncestryDNA", "AncestryDNA cohort", "AncestryDNA research participants", "Human Diversity Project"; ; rdfs:label "AncestryDNA Human Diversity Project"@en . _:19ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11319199/fullTextXML"; rdfs:comment "US-based AncestryDNA customers over the age of 18 who had consented to the research, were invited to complete five surveys assessing COVID-19 outcomes, as well as providing other demographic information and comorbidities, as described previously8." . _:19cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432107"; "Genetic risk factors for COVID-19 and influenza are largely distinct."; "PMID:39103650", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11319199/fullTextXML"; rdfs:comment "To understand the extent to which the same host genetic factors influence the risk of coronavirus disease 2019 (COVID-19) and influenza, we first performed a genome-wide association study (GWAS) of influenza infection based on survey data from 296,313 participants of the AncestryDNA COVID-19 study who consented to the research8." . _:19d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research cohort of customers of the AncestryDNA consumer genetic testing service who consented to AncestryDNA's Human Diversity Project and contribute genotype data and survey responses to genetic studies, including a COVID-19 survey of US-based adult customers used in genome-wide association studies of COVID-19 and influenza outcomes."; "PMID:35410379", "PMID:39103650"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 736723; "consenting AncestryDNA research participants who answered the 2020 COVID-19 survey (a subset of the Human Diversity Project)"; "PMID:35410379"; rdfs:comment "In less than 4 months during an early phase of the pandemic, we collected survey data from 736,723 AncestryDNA research participants who consented to research." . _:19d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AncestryDNA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6709; , ; "GCST90026412"; "An ongoing study that aims to include all individuals with newly diagnosed diabetes in the Scania region of southern Sweden, used to classify diabetes into subgroups and to study their genetics and complications."; 8980; "ANDIS"; ; rdfs:label "All New Diabetics In Scania"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6709 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6709; "diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8660752/fullTextXML"; rdfs:comment "ANDIS is an ongoing study that aims to include all individuals with newly diagnosed diabetes mellitus in the south of Sweden (the Scania region)." . _:19d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8660752/fullTextXML"; rdfs:comment "ANDIS is an ongoing study that aims to include all individuals with newly diagnosed diabetes mellitus in the south of Sweden (the Scania region)." . _:19d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026412"; "Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes."; "PMID:34737425", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34737425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Individuals from the Swedish ANDIS (All New Diabetics In Scania) study were compared to individuals without diabetes;" . _:19d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing study that aims to include all individuals with newly diagnosed diabetes in the Scania region of southern Sweden, used to classify diabetes into subgroups and to study their genetics and complications."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8660752/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8980; "newly diagnosed patients in the 2018 cluster analysis (analysed subset)"; "PMID:29503172"; rdfs:comment "We did data-driven cluster analysis (k-means and hierarchical clustering) in patients with newly diagnosed diabetes (n=8980) from the Swedish All New Diabetics in Scania cohort." . _:19d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANDIS"; . a owl:NamedIndividual, ; ; , ; ; "GCST90104462", "PGS000339"; "A longitudinal study of twins and their non-twin siblings from Queensland, Australia, begun in 1992 with twins recruited through primary and secondary schools in the greater Brisbane area and assessed repeatedly in adolescence and young adulthood (including the 19Up study), with genotyping, brain imaging and psychological assessments, to study genetic and environmental pathways to traits such as mental health and substance use."; 3408; "BATS", "BLS", "BLTS", "Brisbane Adolescent Twin Sample", "Brisbane Adolescent Twin Study", "Brisbane Adolescent Twins Study", "Brisbane Adolescent/Young Adult Longitudinal Twin Study", "Brisbane Longitudinal Twin Sample", "QIMR Twin Family Cohort Study", "TFEGWAS"; , ; rdfs:label "Brisbane Longitudinal Twin Study"@en . _:19d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29550775+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Twins and their non-twin siblings from Queensland, Australia" . _:19da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Brisbane Adolescent Twin Sample was supported by Australian Research Council Grants A7960034, A79906588, A79801419, DP0212016, and DP0343921, with genotyping funded by the NHMRC Grant 389891." . _:19db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000339"; "Multiplex melanoma families are enriched for polygenic risk."; "PMID:32716505" . _:19dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of twins and their non-twin siblings from Queensland, Australia, begun in 1992 with twins recruited through primary and secondary schools in the greater Brisbane area and assessed repeatedly in adolescence and young adulthood (including the 19Up study), with genotyping, brain imaging and psychological assessments, to study genetic and environmental pathways to traits such as mental health and substance use."; "PMID:29550775"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3408; "adolescent and young adult twins in the sample in 2013 (their 1,572 non-twin siblings not included)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3805122/unicode"; rdfs:comment "Currently the BLTS sample comprises both adolescent and young adult twins (3,408 individuals) and their non-twin siblings (1,572), constituting 1,703 families." . _:19de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BATS"; . _:19df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLS"; . _:19e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLTS"; . _:19e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TFEGWAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6725; , , , , , , ; ; "GCST90103427"; "A transatlantic consortium that meta-analysed 14 genome-wide association studies of coronary artery disease in individuals of European descent (22,233 cases and 64,762 controls), with replication genotyping in further samples, to identify susceptibility loci for coronary artery disease."; 22233; 64762; "CARDIoGRAM", "CARDIoGRAM consortium", "Coronary ARtery DIsease Genome-wide Replication And Meta-analysis", "Coronary ARtery DIsease Genome-wide Replication and Meta-analysis Consortium", "Coronary ARtery Disease Genome-Wide Replication And Meta-Analysis", "Coronary Artery Disease Genome-Wide Replication and Meta-Analysis"; ; rdfs:label "Coronary ARtery DIsease Genome wide Replication and Meta-analysis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6725 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6725; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21378990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals." . _:19e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3070269/"; rdfs:comment "CARDIoGRAM combines data from all published and several unpublished GWAS in individuals with European ancestry; includes >22 000 cases with CAD, MI, or both and >60 000 controls; and unifies samples from the Atherosclerotic Disease VAscular functioN and genetiC Epidemiology study, CADomics, Cohorts for Heart and Aging Research in Genomic Epidemiology, deCODE, the German Myocardial Infarction Family Studies I, II, and III, Ludwigshafen Risk and Cardiovascular Heath Study/AtheroRemo, MedStar, Myocardial Infarction Genetics Consortium, Ottawa Heart Genomics Study, PennCath, and the Wellcome Trust Case Control Consortium." . _:19e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3070269/"; rdfs:comment "CARDIoGRAM combines data from all published and several unpublished GWAS in individuals with European ancestry; includes >22 000 cases with CAD, MI, or both and >60 000 controls; and unifies samples from the Atherosclerotic Disease VAscular functioN and genetiC Epidemiology study, CADomics, Cohorts for Heart and Aging Research in Genomic Epidemiology, deCODE, the German Myocardial Infarction Family Studies I, II, and III, Ludwigshafen Risk and Cardiovascular Heath Study/AtheroRemo, MedStar, Myocardial Infarction Genetics Consortium, Ottawa Heart Genomics Study, PennCath, and the Wellcome Trust Case Control Consortium." . _:19e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4102418/fullTextXML"; rdfs:comment "The remaining CARDIoGRAM cohorts formed the Stage 2 set and included Atherosclerotic Disease VAscular functioN and genetic Epidemiology Study (ADVANCE), CADomics, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), deCODE CAD, Ludwigshafen Risk and Cardiovascular Health Study (LURIC/AtheroRemo 1, LURIC/AtheroRemo 2), MedStar, Myocardial Infarction Genetics Consortium (MIGen) and the PennCath Study." . _:19e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5019244/fullTextXML"; rdfs:comment "Notably, PennCATH is one of the core GWA studies nested within the Coronary ARtery DIsease Genome‐wide Replication And Meta‐analysis (CARDIoGRAM) consortium meta‐data" . _:19e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20923989+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CARDIoGRAM combines data from all published and several unpublished GWAS in individuals with European ancestry; includes >22 000 cases with CAD, MI, or both and >60 000 controls; and unifies samples from the Atherosclerotic Disease VAscular functioN and genetiC Epidemiology study, CADomics, Cohorts for Heart and Aging Research in Genomic Epidemiology, deCODE, the German Myocardial Infarction Family Studies I, II, and III, Ludwigshafen Risk and Cardiovascular Heath Study/AtheroRemo, MedStar, Myocardial Infarction Genetics Consortium, Ottawa Heart Genomics Study, PennCath, and the Wellcome Trust Case Control Consortium." . _:19e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "deCODE CAD 6640/ 27611 54.7 36.3/ 61.9 74.8 (11.8)/ 53.7 (21.5) 27.7 (4.7)/ 27.0 (5.4)† MI: MONICA criteria (<75 yrs) or discharge diagnosis of MI; CAD: PCI or participation in CVD genetics program with self-report of CABG or PCI, or discharge diagnosis of angina pectoris, MI or chronic ischaemic heart disease Population sample" . _:19e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20923989+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CARDIoGRAM combines data from all published and several unpublished GWAS in individuals with European ancestry; includes >22 000 cases with CAD, MI, or both and >60 000 controls; and unifies samples from the Atherosclerotic Disease VAscular functioN and genetiC Epidemiology study, CADomics, Cohorts for Heart and Aging Research in Genomic Epidemiology, deCODE, the German Myocardial Infarction Family Studies I, II, and III, Ludwigshafen Risk and Cardiovascular Heath Study/AtheroRemo, MedStar, Myocardial Infarction Genetics Consortium, Ottawa Heart Genomics Study, PennCath, and the Wellcome Trust Case Control Consortium." . _:19ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103427"; "Shared Genetic Architecture and Causal Relationship Between Asthma and Cardiovascular Diseases: A Large-Scale Cross-Trait Analysis."; "PMID:35126453", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8811262/fullTextXML"; rdfs:comment "coronary artery disease (CAD) (N = 22,233), from the Coronary ARtery Disease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) (Schunkert et al., 2011)" . _:19eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A transatlantic consortium that meta-analysed 14 genome-wide association studies of coronary artery disease in individuals of European descent (22,233 cases and 64,762 controls), with replication genotyping in further samples, to identify susceptibility loci for coronary artery disease."; "PMID:21378990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22233; "CAD cases and controls of European descent in the 2011 discovery meta-analysis of 14 GWAS"; "PMID:21378990"; rdfs:comment "We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals." . _:19ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 64762; "CAD cases and controls of European descent in the 2011 discovery meta-analysis of 14 GWAS"; "PMID:21378990"; rdfs:comment "We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals." . _:19ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARDIoGRAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6739; , ; "GCST90429690"; "A longitudinal observational cohort of people with HIV who entered care from 1995 onwards at the HIV clinics of US Centers for AIDS Research (ten sites since 2021), whose data repository integrates clinical, laboratory and patient-reported outcome data from electronic health records for research on HIV care and outcomes."; 51692; "CFAR Network of Integrated Clinical Systems", "CNICS", "CNICS cohort", "Center for AIDS Research Network of Integrated Clinical Systems", "Centers for AIDS Research (CFAR) Network of Integrated Clinical Systems"; ; rdfs:label "Centers for AIDS Research Network of Integrated Clinical Systems"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6739 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6739; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10553320/fullTextXML"; rdfs:comment "We conducted this study among PWH in the CNICS cohort [12], a well-characterized longitudinal observational cohort of PWH who enrolled in care at eight geographically distinct HIV clinics in the US from January 1995 through June 2020 at which time the data was accessed (http://www.uab.edu/cnics/)." . _:19f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10553320/fullTextXML"; rdfs:comment "We conducted this study among PWH in the CNICS cohort [12], a well-characterized longitudinal observational cohort of PWH who enrolled in care at eight geographically distinct HIV clinics in the US from January 1995 through June 2020 at which time the data was accessed (http://www.uab.edu/cnics/)." . _:19f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90429690"; "Assessing the associations between known genetic variants and substance use in people with HIV in the United States."; "PMID:37796845", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37796845+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed genome-wide association studies (GWAS) of alcohol, smoking, and cannabis use phenotypes in a multi-ancestry population of 7,542 PWH from the Center for AIDS Research Network of Integrated Clinical Systems (CNICS)." . _:19f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational cohort of people with HIV who entered care from 1995 onwards at the HIV clinics of US Centers for AIDS Research (ten sites since 2021), whose data repository integrates clinical, laboratory and patient-reported outcome data from electronic health records for research on HIV care and outcomes."; "PMID:37796845", "https://sites.uab.edu/cnics/cnics-sites/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 51692; "people with HIV in the cohort, cumulative, as of early 2026"; "https://sites.uab.edu/cnics/about/"; rdfs:comment "As of early of 2026, CNICS contained 51,692 patients." . _:19f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNICS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6746; , , ; "GCST90662913"; "A cohort of 1,441 people aged 13–39 years with type 1 diabetes from 29 centres in the United States and Canada, enrolled in the Diabetes Control and Complications Trial (1983–1993), a randomised trial comparing intensive with conventional therapy to test whether glycaemic control prevents or delays the complications of type 1 diabetes, and followed since 1994 in the observational Epidemiology of Diabetes Interventions and Complications (EDIC) study of the durability of the treatment effects on advanced microvascular complications and cardiovascular disease."; 1441; "DCCT", "DCCT-EDIC", "DCCT/EDIC", "Diabetes Control and Complication Trial", "Diabetes Control and Complications Trial", "Diabetes Control and Complications Trial/Epidemiology of Diabetes Intervention and Complications study", "Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications", "EDIC", "Epidemiology of Diabetes Intervention and Control Trial", "Epidemiology of Diabetes Interventions and Complications"; ; rdfs:label "Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6746 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6746; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24356592+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The DCCT (1982-1993) was a controlled clinical trial in 1,441 subjects with T1DM comparing intensive therapy (INT), aimed at achieving levels of glycemia as close to the nondiabetic range as safely possible, with conventional therapy (CON), which aimed to maintain safe asymptomatic glucose control." . _:19f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9727532/fullTextXML"; rdfs:comment "The DCCT was a multicenter randomized clinical trial, including 1441 volunteers (96%–97% Caucasian), aged 13 years to 39 years, with T1D of 1 year to 15 years duration from 29 medical centers in the United States and Canada conducted from 1983 to 1993" . _:19f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90662913"; "Genetics of C-Peptide and Age at Diagnosis in Type 1 Diabetes."; "PMID:39556808", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11755686/fullTextXML"; rdfs:comment "We performed a meta-GWAS of C-peptide that including four T1D studies: the Scottish Diabetes Research Network Type 1 Bioresource (SDRNT1BIO) (4,16), Diabetes Control and Complications Trial (DCCT) (17,18), Coronary Artery Calcification in T1D (CACTI) (19,20), and Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR) (21)." . _:19f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 1,441 people aged 13–39 years with type 1 diabetes from 29 centres in the United States and Canada, enrolled in the Diabetes Control and Complications Trial (1983–1993), a randomised trial comparing intensive with conventional therapy to test whether glycaemic control prevents or delays the complications of type 1 diabetes, and followed since 1994 in the observational Epidemiology of Diabetes Interventions and Complications (EDIC) study of the durability of the treatment effects on advanced microvascular complications and cardiovascular disease."; "PMID:24356592", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9727532/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:19f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1441; "people with type 1 diabetes randomised in the DCCT (the cohort followed in EDIC), 1993"; "PMID:24356592"; rdfs:comment "The DCCT (1982-1993) was a controlled clinical trial in 1,441 subjects with T1DM comparing intensive therapy (INT), aimed at achieving levels of glycemia as close to the nondiabetic range as safely possible, with conventional therapy (CON), which aimed to maintain safe asymptomatic glucose control." . _:19fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCCT"; . _:19fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCCT-EDIC"; . _:19fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCCT/EDIC"; . _:19fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6756; ; , ; ; "GCST90275117"; "A nationwide Danish cohort of about 100,000 pregnant women recruited early in pregnancy between 1996 and 2002, run by Statens Serum Institut, with telephone interviews during pregnancy and after birth, biological samples from mother and umbilical cord, and long-term follow-up of the children through questionnaires and national registry linkage, established to study the causal links between early-life exposures and later disease."; 92274; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/DNBC"; "DNBC", "Danish National Birth Cohort/Statens Serum Institut", "The Danish National Birth Cohort"; , , ; rdfs:label "Danish National Birth Cohort"@en; rdfs:seeAlso , . _:genid-371333f489424440b12a13b9d98ced822608-genid6756 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:19fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6756; "exposures in early life"; "https://www.dnbc.dk/about-the-dnbc"; rdfs:comment "The Danish National Birth Cohort (DNBC) was established to investigate the causal link between exposures in early life and disease later on and the possibilities for disease prevention." . _:19ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.dnbc.dk/about-the-dnbc"; rdfs:comment "Data collection started in 1996 and the project covered all regions in Denmark in 1999." . _:1a002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90275117"; "Genetic effects on the timing of parturition and links to fetal birth weight."; "PMID:37012456", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10101852/fullTextXML"; rdfs:comment "Access to the Danish National Birth Cohort (phs000103.v1.p1), Hyperglycemia and Adverse Pregnancy Outcome (phs000096.v4.p1) and Genomic and Proteomic Network (phs000714.v1.p1) individual-level phenotype and genetic data can be obtained through dbGaP Authorized Access portal (https://dbgap.ncbi.nlm.nih.gov/dbgap/aa/wga.cgi?page=login)." . _:1a012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide Danish cohort of about 100,000 pregnant women recruited early in pregnancy between 1996 and 2002, run by Statens Serum Institut, with telephone interviews during pregnancy and after birth, biological samples from mother and umbilical cord, and long-term follow-up of the children through questionnaires and national registry linkage, established to study the causal links between early-life exposures and later disease."; "https://www.dnbc.dk/about-the-dnbc"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 92274; "pregnant women recruited 1996-2002"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01343-9/MediaObjects/41588_2023_1343_MOESM1_ESM.pdf"; rdfs:comment "The DNBC is a collection of data on 92,274 pregnant women recruited between 1996 and 2002, from their first antenatal visit to their general practitioner." . _:1a032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNBC"; . _:1a042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Danish National Birth Cohort/Statens Serum Institut"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6764, _:genid-371333f489424440b12a13b9d98ced822608-genid6766; , ; "GCST90239710"; "A population-based case-control study of lung cancer in the Lombardy region of Italy, which enrolled 2,101 incident primary lung cancer cases from 13 hospitals and 2,120 matched population controls in 2002–2005, collecting epidemiological, clinical and molecular data and biospecimens to study lung cancer aetiology from smoking addiction to outcome."; "The acronym EAGLE also denotes EArly Genetics and Lifecourse Epidemiology consortium (COHO:0000750) and EAGLE BioVU (COHO:0000751); this term is Environment And Genetics in Lung cancer Etiology study."@en; 2101; 2120; "EAGLE", "EAGLE study", "Environment and Genetics in Lung Cancer Etiology Study"; ; rdfs:label "Environment And Genetics in Lung cancer Etiology study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6764 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6766 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6764; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18538025+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy." . _:1a062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6766; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18538025+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We designed a large population-based case-control study that combines a traditional molecular epidemiology design with a more integrative approach to investigate the dynamic process that begins with smoking initiation, proceeds through dependency/smoking persistence, continues with lung cancer development and ends with progression to disseminated disease or response to therapy and survival." . _:1a072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18538025+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy." . _:1a082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239710"; "Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk."; "PMID:35138370", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9402242/fullTextXML"; rdfs:comment "The EAGLE study was supported by the intramural program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH." . _:1a092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of lung cancer in the Lombardy region of Italy, which enrolled 2,101 incident primary lung cancer cases from 13 hospitals and 2,120 matched population controls in 2002–2005, collecting epidemiological, clinical and molecular data and biospecimens to study lung cancer aetiology from smoking addiction to outcome."; "PMID:18538025"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2101; "incident lung cancer cases and population controls enrolled 2002-2005"; "PMID:18538025"; rdfs:comment "Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy." . _:1a0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2120; "incident lung cancer cases and population controls enrolled 2002-2005"; "PMID:18538025"; rdfs:comment "Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy." . _:1a0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAGLE"; . a owl:NamedIndividual, ; "GCST90503108"; "A consortium of population-based pregnancy and birth cohort studies, set up alongside the Early Growth Genetics consortium, that pools genome-wide data to study the genetic basis of phenotypes from fetal life into adolescence such as asthma, eczema, childhood psychopathology, cognition and neurodevelopment."; "The acronym EAGLE also denotes Environment And Genetics in Lung cancer Etiology study (COHO:0000749) and EAGLE BioVU (COHO:0000751); this term is EArly Genetics and Lifecourse Epidemiology consortium."@en; 21399; 95464; "EAGLE", "EAGLE consortium", "EArly Genetics & Lifecourse Epidemiology", "EArly Genetics Lifecourse Epidemiology consortium", "EArly Genetics and Life course Epidemiology", "EArly Genetics and Lifecourse Epidemiology", "EGLE", "Early Genetics and Lifecourse Epidemiology"; ; rdfs:label "EArly Genetics and Lifecourse Epidemiology consortium"@en . _:1a0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90503108"; "Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis."; "PMID:40164604", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11958703/fullTextXML"; rdfs:comment "The EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium AD meta-analysis published by Paternoster et al in ref. 12, performed fixed-effect GWAS meta-analysis on ~21,000 cases and 95,000 controls." . _:1a0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of population-based pregnancy and birth cohort studies, set up alongside the Early Growth Genetics consortium, that pools genome-wide data to study the genetic basis of phenotypes from fetal life into adolescence such as asthma, eczema, childhood psychopathology, cognition and neurodevelopment."; "PMID:30887376"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 21399; "discovery cases and controls in the 2015 EAGLE atopic dermatitis meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26482879%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "we performed a meta-analysis of >15 million genetic variants in 21,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by replication in 32,059 cases and 228,628 controls from 18 studies." . _:1a102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 95464; "discovery cases and controls in the 2015 EAGLE atopic dermatitis meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26482879%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "we performed a meta-analysis of >15 million genetic variants in 21,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by replication in 32,059 cases and 228,628 controls from 18 studies." . _:1a112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAGLE"; . _:1a122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGLE"; . a owl:NamedIndividual, ; , ; ; ; "GCST012556"; "The participants of BioVU, the Vanderbilt University Medical Center biorepository, studied by the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) site of the NHGRI Population Architecture using Genomics and Epidemiology (PAGE) program in trans-ethnic genetic studies of complex traits."; "The acronym EAGLE also denotes Environment And Genetics in Lung cancer Etiology study (COHO:0000749) and EArly Genetics and Lifecourse Epidemiology consortium (COHO:0000750); this term is EAGLE BioVU."@en; 15863; "EAGLE", "Epidemiologic Architecture for Genes Linked to Environment BioVU"; ; rdfs:label "EAGLE BioVU"@en . _:1a132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6059436/fullTextXML"; rdfs:comment "The Population Architecture using Genomics and Epidemiology (PAGE) Study, a consortium of ancestrally diverse genetic studies from the US, is well-positioned to investigate the genetics of complex traits within a trans-ethnic context [34]." . _:1a142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6059436/fullTextXML"; rdfs:comment "Epidemiologic Architecture for Genes Linked to Environment (EAGLE)-accessing the Vanderbilt University Medical Center’s biorepository (BioVU);" . _:1a152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST012556"; "The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis."; "PMID:30044860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6059436/fullTextXML"; rdfs:comment "All studies in this analysis obtained Institutional Review Board approval and written informed consent from all participants, with the exception of EAGLE BioVU, which obtained Institutional Review Board approval to follow an opt-out consent process, described in detail separately [36,37]." . _:1a162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of BioVU, the Vanderbilt University Medical Center biorepository, studied by the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) site of the NHGRI Population Architecture using Genomics and Epidemiology (PAGE) program in trans-ethnic genetic studies of complex traits."; "PMID:30044860"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15863; "non-European-American BioVU subjects genotyped on Metabochip by EAGLE (2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5543359/fullTextXML"; rdfs:comment "The study population consists of 15,863 mostly non-European American subjects from BioVU, the Vanderbilt University Medical Center (VUMC) biorepository linked to de-identified EHRs." . _:1a182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAGLE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6786; , , , , , , , , , , , , ; ; "GCST90245871", "PGS000067"; "An international prostate cancer genetics consortium, linked to the PRACTICAL consortium, that meta-analyses existing genome-wide association data and generates new GWAS, exome-array, iCOGS and OncoArray genotype data from prostate cancer case-control studies to discover prostate cancer risk loci."; 91644; "ELLIPSE", "ELLIPSE Consortium", "Elucidating Loci Involved in Prostate Cancer Susceptibility OncoArray Consortium", "OncoArray: Prostate Cancer", "OncoArray_Prostate"; , ; rdfs:label "Elucidating Loci Involved in Prostate Cancer Susceptibility"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6786 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6786; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9733391/fullTextXML"; rdfs:comment "The Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) consortium prostate cancer meta-analysis and genotypes (dbGaP Study Accession: phs001120.v1.p1) was accessed to analyze Affymetrix genotype calls for 91,644 male PrCa case/controls." . _:1a1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Center for Prostate Disease Research CPDR ELLIPSE/OncoArray 145 44 135 41 Retrospective cohort study; Greater Washington DC Metro Area, USA" . _:1a1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC7028127"; rdfs:comment "Set 2 included 1,253 cases and 1,069 controls from four stud- ies: the MEC, the Los Angeles Aggressive Prostate Cancer (LAAPC), MD Anderson (MDA) and San Antonio Biomarkers ofRisk(SABOR).ThesestudiesweregenotypedwiththeIllumina OncoArray (260K GWAS backbone),15 as part of the ELLIPSE GAME-ON Consortium (dbGaP phs001391.v1.p1).16" . _:1a1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC7028127"; rdfs:comment "Set 2 included 1,253 cases and 1,069 controls from four stud- ies: the MEC, the Los Angeles Aggressive Prostate Cancer (LAAPC), MD Anderson (MDA) and San Antonio Biomarkers ofRisk(SABOR).ThesestudiesweregenotypedwiththeIllumina OncoArray (260K GWAS backbone),15 as part of the ELLIPSE GAME-ON Consortium (dbGaP phs001391.v1.p1).16" . _:1a1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Nashville Men's Health Study | NMHS | ELLIPSE/OncoArray | 188 | 201 | 176 | 188 | Case-control, Nashville, TN | Men seeking a prostate biopsy in all urology clinics in Nashville, TN | Men without PC at biopsy from these urology clinics. | PMID:23079532" . _:1a1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "The North Carolina-Louisiana Prostate Cancer Project | PCaP | ELLIPSE/OncoArray | 1022 | 0 | 967 | 0 | Population-based Case-only | North Carolina Central Cancer Registry for NC cases and LSUHSC Cancer (SEER) Registry for LA cases | NA | PMID:16676364" . _:1a1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Prevention Trial | PCPT | ELLIPSE/OncoArray | 44 | 129 | 44 | 121 | Case-control drawn from a randomized clinical trial; US and Canada | PCPT | PCPT | [PMID: 12824459]" . _:1a202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "The Prostate Cancer and Environment Study | PROtEuS | ELLIPSE/OncoArray | 72 | 58 | 70 | 57 | Case-control, Montreal, Canada | New incident cases across Montreal hospitals | Electoral list, from same residential areas as cases | [PMID:26385727]" . _:1a212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "QLD & APCB QLD = Retrospective Queensland Study & APCB = Australian Prostate Cancer BioResource QLD = Brisbane APCB = Multi Center in Australia Australia QLD = Case-control" . _:1a222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-00748-0/MediaObjects/41588_2020_748_MOESM3_ESM.xlsx"; rdfs:comment "Radiogenomics: Assessment of Polymorphisms for Predicting the Effects of Radiotherapy | RAPPER | ELLIPSE OncoArray | European | 2350 | 0 | 2096 | 0 | Individual" . _:1a232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "San Antonio Biomarkers of Risk | SABOR | ELLIPSE/OncoArray | 106 | 106 | 105 | 106 | Case-control from SA, TX | Incident and Prevalent cases from SABOR | SABOR | [PMID: 20086112]" . _:1a242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "South Carolina Prostate Cancer Study | SCPCS | ELLIPSE/OncoArray | 64 | 39 | 57 | 32 | Case-control, South Carolina, U.S. | South Carolina Central Cancer Registry | Health Care Financing Administration Medicare Beneficiary File | [PMID: 15280622]" . _:1a252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "San Francisco Prostate Cancer Study | SFPCS | ELLIPSE/OncoArray | 86 | 37 | 81 | 36 | Case-control in Bay Area, CA | Non-Hispanic African-American men ages 40-79 years diagnosed with advanced prostate cancer from 1997-2000. Cases were identified through the Greater Bay Area Cancer Registry. | Non-Hispanic African-American men ages 40-79 years without a history of prostate cancer | [PMID: 15958597]" . _:1a262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Wake Forest Prostate Cancer Study | WFPCS | ELLIPSE/OncoArray | 59 | 66 | 59 | 49 | Case-control, Winston-Salem, NC | Incident cases from Wake Forest Baptist Health Urology Clinic | Men with normal PSA/DRE from the same clinic | [PMID: 15342424]" . _:1a272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90245871"; "PRState: Incorporating genetic ancestry in prostate cancer risk scores for men of African ancestry."; "PMID:36494783", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9733391/fullTextXML"; rdfs:comment "The Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) consortium prostate cancer meta-analysis and genotypes (dbGaP Study Accession: phs001120.v1.p1) was accessed to analyze Affymetrix genotype calls for 91,644 male PrCa case/controls." . _:1a282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000067"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:1a292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international prostate cancer genetics consortium, linked to the PRACTICAL consortium, that meta-analyses existing genome-wide association data and generates new GWAS, exome-array, iCOGS and OncoArray genotype data from prostate cancer case-control studies to discover prostate cancer risk loci."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001120.v1.p1", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 91644; "prostate cancer cases and controls in the ELLIPSE dbGaP genotype dataset (phs001120) as analysed by the example study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9733391/fullTextXML"; rdfs:comment "The Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) consortium prostate cancer meta-analysis and genotypes (dbGaP Study Accession: phs001120.v1.p1) was accessed to analyze Affymetrix genotype calls for 91,644 male PrCa case/controls." . _:1a2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELLIPSE"; . _:1a2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OncoArray_Prostate"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6807; , ; "GCST005838"; "A hospital-based case-control study of ischaemic stroke in Finland, in which patients with neuroimaging-confirmed new-onset brain infarction were recruited at Helsinki University Central Hospital, with TOAST subtyping, detailed phenotype data and blood samples, and controls were FINRISK 1992, 1997 and 2002 participants from the Greater Helsinki region frequency-matched by age and sex, to investigate genetic factors underlying ischaemic stroke."; "FINLAND", "Finland"; ; rdfs:label "Helsinki 2000 Ischemic Stroke Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6807 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6807; "ischemic stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Helsinki 2000 Ischemic Stroke Genetics Study was designed for investigating genetic factors underlying ischemic stroke in a Finnish population and in the long-term to be incorporated to multicenter multinational similar datasets." . _:1a2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Helsinki 2000 Ischemic Stroke Genetics Study was designed for investigating genetic factors underlying ischemic stroke in a Finnish population and in the long-term to be incorporated to multicenter multinational similar datasets." . _:1a2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005838"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Helsinki 2000 Ischemic Stroke Genetics Study was designed for investigating genetic factors underlying ischemic stroke in a Finnish population and in the long-term to be incorporated to multicenter multinational similar datasets." . _:1a302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of ischaemic stroke in Finland, in which patients with neuroimaging-confirmed new-onset brain infarction were recruited at Helsinki University Central Hospital, with TOAST subtyping, detailed phenotype data and blood samples, and controls were FINRISK 1992, 1997 and 2002 participants from the Greater Helsinki region frequency-matched by age and sex, to investigate genetic factors underlying ischaemic stroke."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FINLAND"; . _:1a322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finland"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6814; , ; "GCST90179107"; "A multicentre study coordinated by the University of Siena of SARS-CoV-2-positive individuals in Italy, hospitalised and non-hospitalised, whose biospecimens, detailed clinical data and exome and genotype data are collected in the GEN-COVID Biobank, Patient Registry and Genetic Data Repository to find genetic factors for COVID-19 susceptibility and severity."; 1033; "GEN-COVID", "GEN-COVID Biobank", "GEN-COVID cohort", "GEN-COVID consortium", "GENCOVID", "Genetic Bases of COVID-19 Clinical Variability"; ; rdfs:label "GEN-COVID Multicenter Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6814 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6814; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33456056+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Within the GEN-COVID Multicenter Study, biospecimens from more than 1000 SARS-CoV-2 positive individuals have thus far been collected in the GEN-COVID Biobank (GCB)." . _:1a342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7987337/fullTextXML"; rdfs:comment "This is a nested case-control study in which we compared male participants with extreme phenotype selected from the Italian GEN-COVID cohort of SARS-CoV-2-infected participants (<60 y, 79 severe cases versus 77 control cases)." . _:1a352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90179107"; "Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry."; "PMID:36143338", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9504138/fullTextXML"; rdfs:comment "Accordingly, we conducted a case–control based association study to query an exome dataset of 1,432,135 SNPs in 2692 COVID-19 patients of European ancestry from the GEN-COVID consortium, University of Sienna, Italy." . _:1a362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre study coordinated by the University of Siena of SARS-CoV-2-positive individuals in Italy, hospitalised and non-hospitalised, whose biospecimens, detailed clinical data and exome and genotype data are collected in the GEN-COVID Biobank, Patient Registry and Genetic Data Repository to find genetic factors for COVID-19 susceptibility and severity."; "PMID:33456056"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1033; "SARS-CoV-2-positive individuals with samples and data collected by 16 July 2020"; "PMID:33456056"; rdfs:comment "As of July 16, 2020, we have collected samples and data from 1033 individuals (1021 without family ties and 12 with family relations)." . _:1a382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEN-COVID"; . _:1a392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENCOVID"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6822; , ; , ; "GCST90267392"; "A population-based case-control study of colorectal cancer in Hawaii, United States, in which Japanese, Caucasian and Native Hawaiian residents of Oahu newly diagnosed with colorectal adenocarcinoma between January 1994 and August 1998 were identified through the Hawaii SEER registry and matched by sex, ethnicity and age to controls from a population-based health survey of the Hawaii State Department of Health and from Health Care Financing Administration participants, with in-person interviews and blood samples; its genotyped participants take part in consortium studies of genetic and lifestyle risk factors for colorectal cancer."; 727; 727; "COLO2&3", "Colo 2&3", "Colo2&3", "Colo23", "Colon23", "Hawaii Colorectal Cancer studies 2&3", "Hawaiian Colo2&3", "Hawaiian Colorectal Cancer Studies 2&3", "Hawaiian_Colo2&3", "Hawai’i Colorectal Cancer Studies 2&3"; ; rdfs:label "Hawaii Colorectal Cancer Studies 2 and 3"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6822 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6822; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6904202/fullTextXML"; rdfs:comment "Colo 2&3, a case–control study from the University of Hawai’i; DACHS, Darmkrebs: chancen der Verhutüng durch Screening Study;" . _:1a3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6904202/fullTextXML"; rdfs:comment "Colo 2&3, a case–control study from the University of Hawai’i; DACHS, Darmkrebs: chancen der Verhutüng durch Screening Study;" . _:1a3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://ndownloader.figshare.com/files/59870008"; rdfs:comment "Colo2&3 Hawai’i Colorectal Cancer Studies 2&3" . _:1a3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of colorectal cancer in Hawaii, United States, in which Japanese, Caucasian and Native Hawaiian residents of Oahu newly diagnosed with colorectal adenocarcinoma between January 1994 and August 1998 were identified through the Hawaii SEER registry and matched by sex, ethnicity and age to controls from a population-based health survey of the Hawaii State Department of Health and from Health Care Financing Administration participants, with in-person interviews and blood samples; its genotyped participants take part in consortium studies of genetic and lifestyle risk factors for colorectal cancer."; "PMID:31875139", "PMID:38561434"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 727; "interviewed colorectal cancer cases and matched controls in a Hawaii population-based case-control study (probably this one)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12351160%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "We interviewed 727 Japanese, Caucasian or Native Hawaiian cases and 727 controls matched on sex, age, and ethnicity." . _:1a3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 727; "interviewed colorectal cancer cases and matched controls in a Hawaii population-based case-control study (probably this one)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12351160%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "We interviewed 727 Japanese, Caucasian or Native Hawaiian cases and 727 controls matched on sex, age, and ethnicity." . _:1a402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COLO2&3"; . _:1a412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Colo 2&3"; . _:1a422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Colo2&3"; . _:1a432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Colo23"; . _:1a442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Colon23"; . _:1a452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hawaiian_Colo2&3"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6835; , ; "GCST90301675"; "A population-based cohort of 4,814 adults aged 45–75 randomly selected from the resident registries of Bochum, Essen and Mülheim an der Ruhr in the Ruhr area of Germany, examined in 2000–2003 and followed up repeatedly, set up to evaluate coronary artery calcification measured by electron-beam CT for predicting myocardial infarction and cardiac death beyond traditional risk factors."; 4814; "HNR", "HNR study", "Heinz-Nixdorf Recall study"; ; rdfs:label "Heinz Nixdorf Recall Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6835 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6835; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12458722/fullTextXML"; rdfs:comment "The initial aim of the HNR study was to evaluate the predictive value of coronary artery calcification using electron beam CT for myocardial infarction and cardiac death besides traditional cardiovascular risk factors (see Schmermund et al16)." . _:1a472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12458722/fullTextXML"; rdfs:comment "Briefly, the study participants, aged 45–75, were randomly selected from the residents’ registration offices of the cities of Bochum, Essen and Mülheim an der Ruhr, Germany." . _:1a482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301675"; "Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells."; "PMID:25891430", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4444044/fullTextXML"; rdfs:comment "1,500 German controls were recruited from the population-based epidemiological Heinz-Nixdorf Recall (HNR) study and genotyped at the Life and Brain Center at the University Clinic Bonn." . _:1a492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 4,814 adults aged 45–75 randomly selected from the resident registries of Bochum, Essen and Mülheim an der Ruhr in the Ruhr area of Germany, examined in 2000–2003 and followed up repeatedly, set up to evaluate coronary artery calcification measured by electron-beam CT for predicting myocardial infarction and cardiac death beyond traditional risk factors."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12458722/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4814; "participants aged 45-75 at the baseline examination 2000-2003"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12458722/fullTextXML"; rdfs:comment "N=4814 participants aged 45–75 years were included in the baseline examination (T0) between 2000 and 2003 (recruitment rate: 55.8%)." . _:1a4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HNR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6842; , ; "GCST90652533"; "A case-control study of lung cancer in African American and non-Hispanic White adults from the Detroit metropolitan area, in which patients were enrolled within 12 months of diagnosis at the Karmanos Cancer Institute or Henry Ford Health System between 2012 and 2018, together with controls without lung cancer, to study inflammation, ancestry and other risk factors for lung cancer and racial disparities in the disease."; 1662; 3040; "INHALE", "INHALE study", "Inflammation, Health, Ancestry, and Lung Epidemiology study"; ; rdfs:label "INflammation, Health, Ancestry and Lung Epidemiology study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6842 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6842; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35024781+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study included 912 patients with lung cancer and 1457 controls without lung cancer enrolled in an epidemiology study (INHALE [Inflammation, Health, Ancestry, and Lung Epidemiology]) in the Detroit metropolitan area between May 15, 2012, and March 31, 2018." . _:1a4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35024781+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study included 912 patients with lung cancer and 1457 controls without lung cancer enrolled in an epidemiology study (INHALE [Inflammation, Health, Ancestry, and Lung Epidemiology]) in the Detroit metropolitan area between May 15, 2012, and March 31, 2018." . _:1a4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90652533"; "Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci."; "PMID:40341939", "https://pmc.ncbi.nlm.nih.gov/articles/PMC12407114/"; rdfs:comment "ONCO, OncoArray consortium of lung study; AA-NCI, lung cancer and smoking phenotypes in African American cases and controls; INHALE, inflammation, health, ancestry and lung epidemiology study." . _:1a4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of lung cancer in African American and non-Hispanic White adults from the Detroit metropolitan area, in which patients were enrolled within 12 months of diagnosis at the Karmanos Cancer Institute or Henry Ford Health System between 2012 and 2018, together with controls without lung cancer, to study inflammation, ancestry and other risk factors for lung cancer and racial disparities in the disease."; "PMID:35024781", "PMID:39854657", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9307937/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1662; "genotyped lung cancer cases and controls (analysed subset, NHW and AA), 2018"; "https://europepmc.org/api/getPdf?pmcid=PMC11771983"; rdfs:comment "These P/LP variants were genotyped in a sample of 3,040 lung cancer cases and controls from the INHALE study (non-Hispanic White: n=1,915; African American: n=1,125) and were tested for their association with lung cancer using multivariate logistic regression adjusting for age, sex, pack-years, and race." . _:1a512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3040; "genotyped lung cancer cases and controls (analysed subset, NHW and AA), 2018"; "https://europepmc.org/api/getPdf?pmcid=PMC11771983"; rdfs:comment "These P/LP variants were genotyped in a sample of 3,040 lung cancer cases and controls from the INHALE study (non-Hispanic White: n=1,915; African American: n=1,125) and were tested for their association with lung cancer using multivariate logistic regression adjusting for age, sex, pack-years, and race." . _:1a522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INHALE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6850, _:genid-371333f489424440b12a13b9d98ced822608-genid6852; , ; ; "GCST90444407"; "A randomly selected subgroup of about 6,100 participants of the Malmö Diet and Cancer Study in Malmö, Sweden, enrolled between 1991 and 1994 into a sub-study of carotid artery disease and cardiovascular risk, with fasting blood samples used in studies of cardiovascular and metabolic disease."; 6103; "MDC-CC", "MDC-CV", "MDCS-CC", "Malmo Diet and Cancer Study - Cardiovascular Cohort", "Malmö Diet and Cancer Study-Cardiovascular Cohort", "cardiovascular arm of the Malmö Diet and Cancer study"; ; rdfs:label "Malmö Diet and Cancer Study–Cardiovascular Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6850 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6852 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6850; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML"; rdfs:comment "Between October 1991 and February 1994 a randomly selected subgroup of 6103 MDC participants was included into a study focusing on carotid artery disease epidemiology (MDC-CV)12." . _:1a542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6852; "carotid artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML"; rdfs:comment "Between October 1991 and February 1994 a randomly selected subgroup of 6103 MDC participants was included into a study focusing on carotid artery disease epidemiology (MDC-CV)12." . _:1a552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML"; rdfs:comment "The MDC study included a random sample of individuals from Malmö, Sweden, born between 1926 and 1945 and included between March 1991 and September 199611." . _:1a562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML"; rdfs:comment "Between October 1991 and February 1994 a randomly selected subgroup of 6103 MDC participants was included into a study focusing on carotid artery disease epidemiology (MDC-CV)12." . _:1a572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444407"; "The Gly82Ser polymorphism in the receptor for advanced glycation endproducts increases the risk for coronary events in the general population."; "PMID:38773223", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML"; rdfs:comment "We performed a genome-wide association study to identify genetic determinants of plasma sRAGE in 4338 individuals from the cardiovascular arm of the Malmö Diet and Cancer study (MDC-CV)." . _:1a582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomly selected subgroup of about 6,100 participants of the Malmö Diet and Cancer Study in Malmö, Sweden, enrolled between 1991 and 1994 into a sub-study of carotid artery disease and cardiovascular risk, with fasting blood samples used in studies of cardiovascular and metabolic disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8660752/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6103; "randomly selected MDC participants enrolled into the cardiovascular sub-study 1991-1994"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11109115/fullTextXML"; rdfs:comment "Between October 1991 and February 1994 a randomly selected subgroup of 6103 MDC participants was included into a study focusing on carotid artery disease epidemiology (MDC-CV)12." . _:1a5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDC-CC"; . _:1a5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDC-CV"; . _:1a5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDCS-CC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6862, _:genid-371333f489424440b12a13b9d98ced822608-genid6864, _:genid-371333f489424440b12a13b9d98ced822608-genid6866; , ; "GCST90825977"; "A cohort of self-identified Hispanic people with Crohn's disease, ulcerative colitis or unclassified inflammatory bowel disease and non-IBD controls, recruited through the MiaLAtinX Consortium at Cedars-Sinai Medical Center in Los Angeles, the University of Puerto Rico, the University of Miami and Mount Sinai Health System in New York and whole-genome sequenced at the Broad Institute, to study the ancestral origins of IBD risk in Hispanic populations."; 1660; 954; "MiaLAtinX", "MiaLAtinX Cohort", "MiaLAtinX cohort"; ; rdfs:label "MiaLAtinX Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6864 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6866 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6862; "Crohn's disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13140159/"; rdfs:comment "People with IBD and non-IBD controls were recruited as part of the MiaLAtinX Consortium from Cedars-Sinai Medical Center in Los Angeles (“CS”), the University of Puerto Rico (“PR”), the University of Miami (“MIA”), and Mount Sinai Health System in New York (“NY”)." . _:1a5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6864; "ulcerative colitis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13140159/"; rdfs:comment "People with IBD and non-IBD controls were recruited as part of the MiaLAtinX Consortium from Cedars-Sinai Medical Center in Los Angeles (“CS”), the University of Puerto Rico (“PR”), the University of Miami (“MIA”), and Mount Sinai Health System in New York (“NY”)." . _:1a5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6866; "inflammatory bowel disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13140159/"; rdfs:comment "People with IBD and non-IBD controls were recruited as part of the MiaLAtinX Consortium from Cedars-Sinai Medical Center in Los Angeles (“CS”), the University of Puerto Rico (“PR”), the University of Miami (“MIA”), and Mount Sinai Health System in New York (“NY”)." . _:1a602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13140159/"; rdfs:comment "People with IBD and non-IBD controls were recruited as part of the MiaLAtinX Consortium from Cedars-Sinai Medical Center in Los Angeles (“CS”), the University of Puerto Rico (“PR”), the University of Miami (“MIA”), and Mount Sinai Health System in New York (“NY”)." . _:1a612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90825977"; "Genomic Insights Into Inflammatory Bowel Disease in United States Hispanic Participants: An Ancestry-Focused Study."; "PMID:41661118", "https://pmc.ncbi.nlm.nih.gov/articles/PMC13140159/"; rdfs:comment "People with IBD and non-IBD controls were recruited as part of the MiaLAtinX Consortium from Cedars-Sinai Medical Center in Los Angeles (“CS”), the University of Puerto Rico (“PR”), the University of Miami (“MIA”), and Mount Sinai Health System in New York (“NY”)." . _:1a622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of self-identified Hispanic people with Crohn's disease, ulcerative colitis or unclassified inflammatory bowel disease and non-IBD controls, recruited through the MiaLAtinX Consortium at Cedars-Sinai Medical Center in Los Angeles, the University of Puerto Rico, the University of Miami and Mount Sinai Health System in New York and whole-genome sequenced at the Broad Institute, to study the ancestral origins of IBD risk in Hispanic populations."; "PMID:41661118"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1660; "post-QC IBD cases and site-ascertained non-IBD controls"; "https://europepmc.org/api/getPdf?pmcid=PMC13140159"; rdfs:comment "Post-QC, 1660 cases (939 CD, 684 UC, 37 IBDU) and 5614 controls (954 ascertained at recruiting sites and 4660 from SOL) were available for downstream analyses." . _:1a642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 954; "post-QC IBD cases and site-ascertained non-IBD controls"; "https://europepmc.org/api/getPdf?pmcid=PMC13140159"; rdfs:comment "Post-QC, 1660 cases (939 CD, 684 UC, 37 IBDU) and 5614 controls (954 ascertained at recruiting sites and 4660 from SOL) were available for downstream analyses." . _:1a652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MiaLAtinX"; . a owl:NamedIndividual, ; , ; ; "GCST90797639"; "A general-population birth cohort of 9,432 live-born children with expected dates of birth between July 1985 and June 1986 in the provinces of Oulu and Lapland in northern Finland, followed from pregnancy through childhood, adolescence and adulthood with questionnaires, clinical examinations and national register linkage."; 9432; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NFBC1986"; "1986 Northern Finland Birth Cohort", "NFBC1986"; , ; rdfs:label "Northern Finland Birth Cohort 1986"@en; rdfs:seeAlso . _:1a662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13585820/fullTextXML"; rdfs:comment "The study was based on the Northern Finland Birth Cohort 1986 (NFBC1986) [20], which is an unselected, general population sample based on 9432 live-born children with an expected date of birth between July 1 st, 1985 – June 30th, 1986, in the provinces of Oulu and Lapland [21]." . _:1a672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "NFBC1986 Northern Finland Birth Cohort 1986 Provinces of Oulu and Lapland, Finland" . _:1a682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A general-population birth cohort of 9,432 live-born children with expected dates of birth between July 1985 and June 1986 in the provinces of Oulu and Lapland in northern Finland, followed from pregnancy through childhood, adolescence and adulthood with questionnaires, clinical examinations and national register linkage."; "PMID:40858910"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9432; "live-born children with expected birth July 1985-June 1986"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13585820/fullTextXML"; rdfs:comment "The study was based on the Northern Finland Birth Cohort 1986 (NFBC1986) [20], which is an unselected, general population sample based on 9432 live-born children with an expected date of birth between July 1 st, 1985 – June 30th, 1986, in the provinces of Oulu and Lapland [21]." . _:1a6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFBC1986"; . a owl:NamedIndividual, ; , , ; ; "GCST90132186"; "A prospective population-based cohort of adults aged 35–64 years recruited in 2007 by age-stratified random sampling in the semi-urban Ragama Medical Officer of Health area of Gampaha district, Sri Lanka, with baseline socio-demographic, lifestyle, anthropometric, biochemical and clinical data and follow-up of mortality and its predictors."; 2985; "RHS"; ; rdfs:label "Ragama Health Study"@en . _:1a6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32994253+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ObjectiveTo describe patterns and predictors of mortality in a semi-urban population in Sri Lanka.DesignA prospective population-based cohort study.SettingRagama Medical Officer of Health area in the Gampaha district, Sri Lanka.ParticipantsAdults between 35 and 64 years of age were recruited using an age stratified random sampling technique in 2007.MeasuresAt baseline, we recorded socio-demographic, lifestyle, anthropometric, biochemical and clinical data of the participants." . _:1a6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132186"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9179018/fullTextXML"; rdfs:comment "South Asian studies of Sri Lankan, Bangladeshi and South Indian ancestry (RHS, EPIDREAM, SINDI, GRCCDS and BPC) from those of North Indian and Pakistani ancestry; and Northern European ancestry studies from the study of Greek ancestry from Southern Europe (GOMAP)." . _:1a6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of adults aged 35–64 years recruited in 2007 by age-stratified random sampling in the semi-urban Ragama Medical Officer of Health area of Gampaha district, Sri Lanka, with baseline socio-demographic, lifestyle, anthropometric, biochemical and clinical data and follow-up of mortality and its predictors."; "PMID:32994253"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2985; "recruited adults with complete baseline data followed as the RHS cohort (2008)"; "PMID:32994253"; rdfs:comment "At the baseline assessment 2985 of the recruited participants had complete data and were followed-up as the Ragama Health Study (RHS) cohort." . _:1a6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6884; , , ; ; ; "GCST90244057"; "A population-based cohort of Chinese adults in Singapore examined at baseline in 2009–2011 (SCES-1) and invited for a 6-year follow-up in 2015–2017 (SCES-2) with standardised ocular and systemic examinations and questionnaires, to study the prevalence, incidence, progression and risk factors of age-related eye diseases."; 3353; "SCES", "SCES-1", "SCES-2", "Singapore Chinese Eyes Study"; ; rdfs:label "Singapore Chinese Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6884 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6884; "age-related eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31401553+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Building on SCES-1, SCES-2 will be one of the few longitudinal population-based eye studies to report incidence, progression, and risk factors of major age-related eye diseases." . _:1a712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "At baseline visit, Malay, Indian, and Chinese subjects from SEED were recruited under 3 studies: the Singapore Malay Eye Study (year 2004–2006), the Singapore Indian Eye Study (year 2007–2009), and the Singapore Chinese Eye Study (year 2009–2011)." . _:1a722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244057"; "Rare variant analyses across multiethnic cohorts identify novel genes for refractive error."; "PMID:36596879", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS), Rotterdam Study I (RSI), Erasmus Rucphen Family (ERF), Raine Eye Health Study (REHS) of the Raine Study, Beaver Dam Eye Study (BDES), Estonian Genome Center for the University of Tartu (EGCUT), Finnish Twin Study on Aging (FITSA), Ogliastra, Croatia-Korcula, TwinsUK, and EPIC-Norfolk." . _:1a732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of Chinese adults in Singapore examined at baseline in 2009–2011 (SCES-1) and invited for a 6-year follow-up in 2015–2017 (SCES-2) with standardised ocular and systemic examinations and questionnaires, to study the prevalence, incidence, progression and risk factors of age-related eye diseases."; "PMID:31401553"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3353; "Chinese adults examined at baseline SCES-1 (2009-2011)"; "PMID:31401553"; rdfs:comment "We herein report the key findings from the baseline Singapore Chinese Eye Study (SCES-1), and describe the rationale and methodology of the 6-year follow-up study (SCES-2).Methods3353 Chinese adults who participated in the baseline SCES-1 (2009-2011) were invited for the 6-year follow-up SCES-2 (2015-2017)." . _:1a752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCES"; . _:1a762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCES-1"; . _:1a772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCES-2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6893, _:genid-371333f489424440b12a13b9d98ced822608-genid6895; , , , ; , , ; ; "PMID:38025163"; "A multiethnic population-based cohort of Malay, Indian and Chinese adults in Singapore, recruited at baseline through the Singapore Malay Eye Study (2004–2006), the Singapore Indian Eye Study (2007–2009) and the Singapore Chinese Eye Study (2009–2011) and re-examined about six years later (SEED-2), to study the incidence and risk factors of eye diseases and visual impairment."; 10033; "SEED", "SEED-2", "Singapore Epidemiology of Eye Disease", "Singapore Epidemiology of Eye Diseases study"; rdfs:label "Singapore Epidemiology of Eye Diseases Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6893 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6895 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6893; "visual impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "We conducted a multiethnic population-based cohort study using subjects recruited from the Singapore Epidemiology of Eye Diseases (SEED) study." . _:1a792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6895; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "We conducted a multiethnic population-based cohort study using subjects recruited from the Singapore Epidemiology of Eye Diseases (SEED) study." . _:1a7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38025163"; "Six-Year Incidence of Visual Impairment in a Multiethnic Asian Population: The Singapore Epidemiology of Eye Diseases Study."; "PMID:38025163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "We conducted a multiethnic population-based cohort study using subjects recruited from the Singapore Epidemiology of Eye Diseases (SEED) study." . _:1a7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiethnic population-based cohort of Malay, Indian and Chinese adults in Singapore, recruited at baseline through the Singapore Malay Eye Study (2004–2006), the Singapore Indian Eye Study (2007–2009) and the Singapore Chinese Eye Study (2009–2011) and re-examined about six years later (SEED-2), to study the incidence and risk factors of eye diseases and visual impairment."; "PMID:38025163"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10033; "Malay, Indian and Chinese adults aged 40-80 who took part at baseline (2004-2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "All subjects provided written informed consent.In brief, an age-stratified random sampling method was used to select 13 271 subjects (4168 Malays, 4497 Indians, and 4606 Chinese) aged 40–80 years, from which a total of 10 033 subjects (3280 Malays, 3400 Indians, and 3353 Chinese) participated in the study, thereby achieving a response rate of 75.6%." . _:1a7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEED"; . _:1a7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEED-2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6902, _:genid-371333f489424440b12a13b9d98ced822608-genid6904; , , ; ; , ; "GCST90244057"; "A population-based cohort of adults of Indian ethnicity in Singapore, examined at baseline in 2007–2009 and again in 2013–2015 (SINDI-2), to study diabetic retinopathy and other major age-related eye diseases and the impact of migration, comparing first-generation immigrants with Singapore-born second-generation participants."; 3400; "SINDI", "SINDI-2"; ; rdfs:label "Singapore Indian Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6902 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6904 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6902; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28472538+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe the methodology of the Singapore Indian Eye Study-2 (SINDI-2) aimed to evaluate the impact of migration status on diabetic retinopathy and other major age-related eye diseases in Asian Indians living in an urban environment." . _:1a802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6904; "age-related eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28472538+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe the methodology of the Singapore Indian Eye Study-2 (SINDI-2) aimed to evaluate the impact of migration status on diabetic retinopathy and other major age-related eye diseases in Asian Indians living in an urban environment." . _:1a812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "At baseline visit, Malay, Indian, and Chinese subjects from SEED were recruited under 3 studies: the Singapore Malay Eye Study (year 2004–2006), the Singapore Indian Eye Study (year 2007–2009), and the Singapore Chinese Eye Study (year 2009–2011)." . _:1a822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3852120/fullTextXML"; rdfs:comment "Briefly, the Singapore Indian Eye Study (SINDI), which is part of the Singapore Indian Chinese Cohort Eye Study (SICC) [42], consists of 2538 Indian subjects aged 40 and above, and the Singapore Malay Eye Study (SiMES) [43-45] is a genome-wide association study of CCT phenotype which contains 2542 Malay subjects aged 40 and above." . _:1a832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244057"; "Rare variant analyses across multiethnic cohorts identify novel genes for refractive error."; "PMID:36596879", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS), Rotterdam Study I (RSI), Erasmus Rucphen Family (ERF), Raine Eye Health Study (REHS) of the Raine Study, Beaver Dam Eye Study (BDES), Estonian Genome Center for the University of Tartu (EGCUT), Finnish Twin Study on Aging (FITSA), Ogliastra, Croatia-Korcula, TwinsUK, and EPIC-Norfolk." . _:1a842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adults of Indian ethnicity in Singapore, examined at baseline in 2007–2009 and again in 2013–2015 (SINDI-2), to study diabetic retinopathy and other major age-related eye diseases and the impact of migration, comparing first-generation immigrants with Singapore-born second-generation participants."; "PMID:28472538"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3400; "Indian adults who took part at baseline SINDI (2007-2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "All subjects provided written informed consent.In brief, an age-stratified random sampling method was used to select 13 271 subjects (4168 Malays, 4497 Indians, and 4606 Chinese) aged 40–80 years, from which a total of 10 033 subjects (3280 Malays, 3400 Indians, and 3353 Chinese) participated in the study, thereby achieving a response rate of 75.6%." . _:1a862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SINDI"; . _:1a872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SINDI-2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6913; , , , ; , , ; ; "GCST90267569"; "A collaborative consortium in Taiwan, with Taichung Veterans General Hospital, Tri-Service General Hospital, National Taiwan University Hospital and the National Health Research Institutes ascertaining subjects, that genotyped Taiwanese Chinese participants of several studies with the Illumina CardioMetaboChip to identify genetic determinants of atherosclerosis- and metabolic-related traits."; 3133; 5423; 8556; "TAICHI", "TaiChi", "TaiChi consortium", "Taichi Consortium"; ; rdfs:label "TAICHI Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6913 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6913; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4794124/fullTextXML"; rdfs:comment "Through our academic collaboration, we have collected phenotypic data and DNA from a large cohort of subjects with coronary artery disease and controls without disease across the island of Taiwan." . _:1a892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3605054/fullTextXML"; rdfs:comment "The authors thank all investigators, staff, and participants from the studies of PAGE (ARIC, MEC, WHI), HyperGEN, CLHNS, TAICHI (HALST, SAPPHIRe, TCAGEN, TACT, Taiwan DRAGON, TCAD, and TUDR), FUSION, FIN-D2D2007, DPS, DR's EXTRA, METSIM, HUNT 2, and TROMSØ for their contributions." . _:1a8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3605054/fullTextXML"; rdfs:comment "The authors thank all investigators, staff, and participants from the studies of PAGE (ARIC, MEC, WHI), HyperGEN, CLHNS, TAICHI (HALST, SAPPHIRe, TCAGEN, TACT, Taiwan DRAGON, TCAD, and TUDR), FUSION, FIN-D2D2007, DPS, DR's EXTRA, METSIM, HUNT 2, and TROMSØ for their contributions." . _:1a8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3605054/fullTextXML"; rdfs:comment "The authors thank all investigators, staff, and participants from the studies of PAGE (ARIC, MEC, WHI), HyperGEN, CLHNS, TAICHI (HALST, SAPPHIRe, TCAGEN, TACT, Taiwan DRAGON, TCAD, and TUDR), FUSION, FIN-D2D2007, DPS, DR's EXTRA, METSIM, HUNT 2, and TROMSØ for their contributions." . _:1a8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3605054/fullTextXML"; rdfs:comment "The authors thank all investigators, staff, and participants from the studies of PAGE (ARIC, MEC, WHI), HyperGEN, CLHNS, TAICHI (HALST, SAPPHIRe, TCAGEN, TACT, Taiwan DRAGON, TCAD, and TUDR), FUSION, FIN-D2D2007, DPS, DR's EXTRA, METSIM, HUNT 2, and TROMSØ for their contributions." . _:1a8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4794124/fullTextXML"; rdfs:comment "The TAICHI Consortium is a collaborative study in Taiwan, with the aims to genotype a large number of Taiwanese Chinese subjects with the Illumina CardioMetaboChip and to identify genetic determinants of atherosclerosis- and metabolic-related traits [13–20]." . _:1a8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267569"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7614755/fullTextXML"; rdfs:comment "Two of these studies included participants of Hispanic American ancestry (MACAD and HTN-IR; N ISI = 1095, N IFC = 1099) and 1 included participants of East Asian ancestry (TAICHI; N ISI = 730 N IFC = 739); the remaining 25 studies included individuals of European ancestry." . _:1a8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative consortium in Taiwan, with Taichung Veterans General Hospital, Tri-Service General Hospital, National Taiwan University Hospital and the National Health Research Institutes ascertaining subjects, that genotyped Taiwanese Chinese participants of several studies with the Illumina CardioMetaboChip to identify genetic determinants of atherosclerosis- and metabolic-related traits."; "PMID:26982883"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3133; "subjects genotyped with the CardioMetaboChip for the TAICHI CAD analysis (CAD cases and controls), 2016"; "PMID:26982883"; rdfs:comment "As part of the TAICHI Consortium, we have collected and genotyped 8556 subjects from Taiwan, comprising 5423 controls and 3133 cases with coronary artery disease, for 9087 CAD SNPs using the CardioMetaboChip." . _:1a912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5423; "subjects genotyped with the CardioMetaboChip for the TAICHI CAD analysis (CAD cases and controls), 2016"; "PMID:26982883"; rdfs:comment "As part of the TAICHI Consortium, we have collected and genotyped 8556 subjects from Taiwan, comprising 5423 controls and 3133 cases with coronary artery disease, for 9087 CAD SNPs using the CardioMetaboChip." . _:1a922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8556; "subjects genotyped with the CardioMetaboChip for the TAICHI CAD analysis (CAD cases and controls), 2016"; "PMID:26982883"; rdfs:comment "As part of the TAICHI Consortium, we have collected and genotyped 8556 subjects from Taiwan, comprising 5423 controls and 3133 cases with coronary artery disease, for 9087 CAD SNPs using the CardioMetaboChip." . _:1a932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TAICHI"; . _:1a942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TaiChi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6927; , ; "GCST90243993"; "A population-based case-control study of colon cancer in women in Los Angeles County, United States, comprising 831 English-speaking women aged 55–74 years diagnosed with primary colon cancer from 1998 to 2002, identified through the Los Angeles County Cancer Surveillance Program (a SEER registry), and 755 race/ethnicity- and age-matched neighbourhood control women, with in-person interviews on hormone use, reproductive history and lifestyle and blood samples, set up to study menopausal hormone therapy and colon cancer risk."; "The acronym USC also denotes Los Angeles County Case-Control Studies of Ovarian Cancer (COHO:0001988); this term is University of Southern California Hormone Replacement Therapy Colorectal Cancer Study."@en; 831; 755; "USC", "USC-HRT-CRC", "USC_HRT_CRC"; ; rdfs:label "University of Southern California Hormone Replacement Therapy Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6927 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6927; "colon cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11091089/supplementaryFiles"; rdfs:comment "To further investigate the relationship between menopausal hormones and risk of colon cancer, we conducted a population-based case–control study in Los Angeles County involving 831 women with newly diagnosed colon cancer and 755 population-based control women." . _:1a962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11091089/supplementaryFiles"; rdfs:comment "To further investigate the relationship between menopausal hormones and risk of colon cancer, we conducted a population-based case–control study in Los Angeles County involving 831 women with newly diagnosed colon cancer and 755 population-based control women." . _:1a972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243993"; "Genome-Wide Interaction Analysis of Genetic Variants With Menopausal Hormone Therapy for Colorectal Cancer Risk."; "PMID:35512400", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9360460/"; rdfs:comment "USC_HRT_CRC = University of Southern California Hormone Replacement Therapy Colorectal Cancer Study" . _:1a982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of colon cancer in women in Los Angeles County, United States, comprising 831 English-speaking women aged 55–74 years diagnosed with primary colon cancer from 1998 to 2002, identified through the Los Angeles County Cancer Surveillance Program (a SEER registry), and 755 race/ethnicity- and age-matched neighbourhood control women, with in-person interviews on hormone use, reproductive history and lifestyle and blood samples, set up to study menopausal hormone therapy and colon cancer risk."; "PMID:35512400", "PMID:38561434"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1a992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 831; "women with newly diagnosed colon cancer and population control women"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20064828%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "To further investigate the relationship between menopausal hormones and risk of colon cancer, we conducted a population-based case-control study in Los Angeles County involving 831 women with newly diagnosed colon cancer and 755 population-based control women." . _:1a9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 755; "women with newly diagnosed colon cancer and population control women"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20064828%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "To further investigate the relationship between menopausal hormones and risk of colon cancer, we conducted a population-based case-control study in Los Angeles County involving 831 women with newly diagnosed colon cancer and 755 population-based control women." . _:1a9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USC"; . _:1a9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USC-HRT-CRC"; . _:1a9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USC_HRT_CRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6937; , ; "GCST90104462"; "A clinical cohort of children and adolescents aged 7–18 with reading difficulties, comprising siblings from nuclear families recruited by research clinics in Oxford and Reading and singletons recruited in Oxford, Reading and Aston, United Kingdom, to study the genetics of dyslexia."; "Oxford Dyslexia cohort", "UK Dyslexia", "UKDYS", "UKdys"; ; rdfs:label "UK Dyslexia Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6937 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1a9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6937; "dyslexia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9649434/fullTextXML"; rdfs:comment "The other two were family-based samples selected for dyslexia: one from the United Kingdom (UKdys), n = 930 (595 families); the other from the United States (Colorado Learning Disabilities Research Center, CLDRC), n = 717 (336 families)92." . _:1a9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9649434/fullTextXML"; rdfs:comment "one from the United Kingdom (UKdys), n = 930 (595 families)" . _:1aa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "UK Dyslexia was supported by Wellcome Trust Grants 076566/Z/05/Z and 075491/Z/04, Waterloo Foundation Grant 797–1720, EU Grant 018696, and Royal Society Grant UF100463." . _:1aa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical cohort of children and adolescents aged 7–18 with reading difficulties, comprising siblings from nuclear families recruited by research clinics in Oxford and Reading and singletons recruited in Oxford, Reading and Aston, United Kingdom, to study the genetics of dyslexia."; "PMID:36780127"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1aa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK Dyslexia"; . _:1aa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKDYS"; . _:1aa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKdys"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6945; , , , , , , , ; "GCST90461907"; "A consortium of epidemiological studies of prostate cancer in men of African ancestry, mainly African American men, assembled to conduct genome-wide association studies of prostate cancer susceptibility in men of African descent."; 4853; 4678; "AAPC", "African American Prostate Consortium", "African Ancestry Prostate Cancer GWAS", "African Ancestry Prostate Cancer GWAS Consortium"; ; rdfs:label "African Ancestry Prostate Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6945 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1aa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6945; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11821537/fullTextXML"; rdfs:comment "The AAPC comprises AFR studies with prostate cancer phenotyping" . _:1aa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "King County (Washington) Prostate Cancer Studies | KCPCS | AAPC GWAS | 145 | 81 | 141 | 75 | Case-control, King County, WA, U.S. | Seattle-Puget Sound SEER cancer registry | Random-digit-dialing | [PMID:10548316]" . _:1aa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Genetics Study CaP Genes AAPC GWAS 75 85 71 85 Case-control, Cleveland, OH, U.S." . _:1aa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102788/"; rdfs:comment "These studies included: The Multiethnic Cohort (MEC; 1,094 cases /1,096 controls), The Southern Community Cohort Study (SCCS, 212/419), The Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 286/269), The Cancer Prevention Study II Nutrition Cohort (CPS-II, 76/152), Prostate Cancer Case-Control Studies at MD Anderson (MDA, 543/474), Identifying Prostate Cancer Genes (IPCG, 368/172), The Los Angeles Study of Aggressive Prostate Cancer (LAAPC, 296/303), Prostate Cancer Genetics Study (CaP Genes, 75/85), Case-Control Study of Prostate Cancer among African Americans in Washington, DC (DCPC, 292/359), King County (Washington) Prostate Cancer Study (KCPCS, 145/81), and The Gene-Environment Interaction in Prostate Cancer Study (GECAP, 234/92)." . _:1aa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "The Gene-Environment Interaction in Prostate Cancer Study | GECAP | AAPC GWAS | 234 | 92 | 224 | 89 | Case-control, Detroit, MI, U.S. | The Henry Ford Health System (HFHS) | HFHS population base | [PMID:17067754]" . _:1aaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Identifying Prostate Cancer Genes | IPCG | AAPC GWAS | 368 | 172 | 354 | 157 | Case-control, Maryland, U.S. | Johns Hopkins Hospital and Sidney Kimmel Cancer Center | Men undergoing screening for prostate cancer at the same institutions | [PMID:17401366]" . _:1aab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "The Los Angeles Study of Aggressive Prostate Cancer | LAAPC | AAPC GWAS | 296 | 303 | 288 | 287 | Case-control, Los Angeles County, CA, U.S. | Los Angeles County Cancer Surveillance Program | Los Angeles County, neighborhood walk algorithm and the MEC | [PMID:20364112]" . _:1aac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Case-Control Studies at MD Anderson | MDA | AAPC GWAS | 543 | 474 | 528 | 437 | Case-control, Houston, TX, U.S. | Houston Medical Center | Random-digit-dialing or hospital visitors | [PMID:15264247]" . _:1aad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "NCPCS is a population-based case-control study in the Western part of North Carolina (NC)." . _:1aae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90461907"; "Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups."; "PMID:39930085", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11821537/fullTextXML"; rdfs:comment "The AAPC comprises AFR studies with prostate cancer phenotyping" . _:1aaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of epidemiological studies of prostate cancer in men of African ancestry, mainly African American men, assembled to conduct genome-wide association studies of prostate cancer susceptibility in men of African descent."; "PMID:21602798", "PMID:29117387", "PMID:33398198"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ab02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4853; "prostate cancer cases and controls of African ancestry in the AAPC GWAS (as pooled in the 2017 meta-analysis)"; "PMID:29117387"; rdfs:comment "To search for additional PCa risk variants in men of African ancestry that may contribute to their greater disease incidence, we combined genetic association results from the African Ancestry Prostate Cancer GWAS Consortium (AAPC; 4853 case subjects and 4678 control subjects) (9), the Ghana Prostate Study (474 case subjects and 458 control subjects) (10), the Kaiser/ProHealth Prostate Cancer Study (601 case subjects and 1650 control subjects) (11), and the ELLIPSE/PRACTICAL OncoArray Consortium (4274 case subjects and 4024 control subjects) (Supplementary Table 1, available online)." . _:1ab12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4678; "prostate cancer cases and controls of African ancestry in the AAPC GWAS (as pooled in the 2017 meta-analysis)"; "PMID:29117387"; rdfs:comment "To search for additional PCa risk variants in men of African ancestry that may contribute to their greater disease incidence, we combined genetic association results from the African Ancestry Prostate Cancer GWAS Consortium (AAPC; 4853 case subjects and 4678 control subjects) (9), the Ghana Prostate Study (474 case subjects and 458 control subjects) (10), the Kaiser/ProHealth Prostate Cancer Study (601 case subjects and 1650 control subjects) (11), and the ELLIPSE/PRACTICAL OncoArray Consortium (4274 case subjects and 4024 control subjects) (Supplementary Table 1, available online)." . _:1ab22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6960; , ; "GCST90267567"; "A population-based study of a random sample of about 5,200 people aged 18–75 years from the Botnia region of western Finland, identified through the national population registry, to study the prevalence, prediction and prevention of type 2 diabetes and related metabolic traits."; 5208; "BPPP", "Botnia Prevalence, Prediction and Prevention of Diabetes study", "Botnia-PPP", "PPP-Botnia", "Prevalence, Prediction and Prevention of Diabetes (PPP)-Botnia Study"; ; rdfs:label "Prevalence, Prediction and Prevention of Diabetes-Botnia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6960 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ab32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6960; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20454776+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Prevalence, Prediction and Prevention of Diabetes (PPP)-Botnia study is a population-based study in Western Finland, which includes a random sample of 5,208 individuals aged 18 to 75 years identified through the national Finnish Population Registry." . _:1ab42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2809287/fullTextXML"; rdfs:comment "The Prevalence, Prediction and Prevention of Diabetes (PPP)-Botnia Study is a population-based study in the Botnia region of Western Finland." . _:1ab52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267567"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7614755/fullTextXML"; rdfs:comment "Botnia-PPP was imputed to the SISu v3 reference panel in genome build 3863 and variants were mapped to build 37 using UCSC LiftOver, after GWAS analyses64." . _:1ab62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of a random sample of about 5,200 people aged 18–75 years from the Botnia region of western Finland, identified through the national population registry, to study the prevalence, prediction and prevention of type 2 diabetes and related metabolic traits."; "PMID:20454776"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ab72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5208; "individuals who participated (random population sample aged 18-75), 2004-2008"; "https://doi.org/10.1007/s00125-010-1776-y"; rdfs:comment "Altogether 5,208 individuals (Electronic supplementary material [ESM] Table 1) participated in the study (54.7% of those invited)." . _:1ab82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BPPP"; . _:1ab92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Botnia-PPP"; . _:1aba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPP-Botnia"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6969; , ; "GCST90709864"; "A national longitudinal prospective cohort of children born with cleft lip and/or palate and their families, recruited across the UK from November 2013 through NHS cleft centres, with biological samples, questionnaires, surgical data and record linkage to study the causes, treatments and long-term outcomes of orofacial clefts."; 11298; "Cleft Collective", "Cleft Collective Cohort Studies", "Cleft Collective Cohort study", "CleftCollective"; ; rdfs:label "The Cleft Collective"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6969 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1abb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6969; "cleft lip and/or palate"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11227803/fullTextXML"; rdfs:comment "The Cleft Collective (https://www.bristol.ac.uk/cleft-collective/) is a prospective longitudinal cohort study of children born with CL/P and their families." . _:1abc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38969383+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Recruitment occurs across the UK and started in November 2013." . _:1abd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709864"; "Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective."; "PMID:41075272", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12627943/fullTextXML"; rdfs:comment "Children born with an orofacial cleft and their families who were registered at one of 17 cleft centres across the UK were recruited to the Cleft Collective Cohort study between November 2013 and June 2020." . _:1abe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national longitudinal prospective cohort of children born with cleft lip and/or palate and their families, recruited across the UK from November 2013 through NHS cleft centres, with biological samples, questionnaires, surgical data and record linkage to study the causes, treatments and long-term outcomes of orofacial clefts."; "PMID:38969383"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1abf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11298; "participants recruited to date (4020 children with cleft plus mothers, fathers, partners and siblings), 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11227803/fullTextXML"; rdfs:comment "At the time of writing this protocol, 4020 children born with CL/P had been recruited (a total of 11 298 participants including study child, mothers, fathers, mother’s partner and siblings)." . _:1ac02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CleftCollective"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6976, _:genid-371333f489424440b12a13b9d98ced822608-genid6978; , , , , ; "GCST90245885"; "A clinical trials network of more than 220 hospitals and more than 13,500 researchers, clinicians and specialists that designs and runs clinical trials and research studies to cure and prevent childhood and adolescent cancer; genetic studies use participants of its trials."; "COG", "Childrens Oncology Group"; ; rdfs:label "Children's Oncology Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6976 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6978 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ac12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6976; "acute lymphoblastic leukemia"; "https://childrensoncologygroup.org/about"; rdfs:comment "The Children’s Oncology Group is a research network focused on improving outcomes for children, adolescents, and young adults with cancer." . _:1ac22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6978; "childhood cancer"; "https://childrensoncologygroup.org/about"; rdfs:comment "The Children’s Oncology Group is a research network focused on improving outcomes for children, adolescents, and young adults with cancer." . _:1ac32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9857512/fullTextXML"; rdfs:comment "This retrospective analysis of a multiethnic genome-wide association study was conducted between January 1, 2019, and April 15, 2022, including patients treated as part of Children’s Oncology Group (COG) trials with centers in the United States, Canada, and Australia, which accrued data from December 29, 2003, to January 21, 2011 (AALL0232), and from January 22, 2007, to July 24, 2014 (AALL0434)." . _:1ac42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90245885"; "Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia."; "PMID:36580335", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9857512/fullTextXML"; rdfs:comment "This retrospective analysis of a multiethnic genome-wide association study was conducted between January 1, 2019, and April 15, 2022, including patients treated as part of Children’s Oncology Group (COG) trials with centers in the United States, Canada, and Australia, which accrued data from December 29, 2003, to January 21, 2011 (AALL0232), and from January 22, 2007, to July 24, 2014 (AALL0434)." . _:1ac52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical trials network of more than 220 hospitals and more than 13,500 researchers, clinicians and specialists that designs and runs clinical trials and research studies to cure and prevent childhood and adolescent cancer; genetic studies use participants of its trials."; "https://childrensoncologygroup.org/about"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ac62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6984, _:genid-371333f489424440b12a13b9d98ced822608-genid6986; , ; , , ; "GCST90308728"; "A multi-site, multi-generational family study in which probands recruited through alcohol treatment centres and their relatives, together with community comparison families, have been assessed over more than 30 years (nearly 18,000 individuals from over 2200 families) with psychiatric interviews, questionnaires, electrophysiology and DNA to identify genetic factors in alcohol use disorder and related outcomes."; 17878; "COGA", "Collaborative Studies on the Genetics of Alcoholism", "Collaborative Study for the Genetics of Alcoholism", "The Collaborative Study on the Genetics of Alcoholism"; ; rdfs:label "Collaborative Study on the Genetics of Alcoholism"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6984 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid6986 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ac72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6984; "alcohol use disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550787/fullTextXML"; rdfs:comment "COGA is a multi‐generational family‐based study in which probands were recruited through alcohol treatment centers, along with a set of community comparison families." . _:1ac82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6986; "alcohol use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37581339+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants range in age from 7 to 97, with many having longitudinal assessments, providing a valuable opportunity to study alcohol use and problems across the lifespan." . _:1ac92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550787/fullTextXML"; rdfs:comment "At the study's inception, high‐risk families were ascertained through probands who were undergoing treatment for AUDs at six sites across the United States." . _:1aca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308728"; "Genomic risk for post-traumatic stress disorder in families densely affected with alcohol use disorders."; "PMID:37344610", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37344610+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined genome-wide associations for DSM-IV PTSD among 4,978 trauma-exposed participants (31% with alcohol dependence, 50% female, 30% African ancestry) from the Collaborative Study on the Genetics of Alcoholism (COGA)." . _:1acb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site, multi-generational family study in which probands recruited through alcohol treatment centres and their relatives, together with community comparison families, have been assessed over more than 30 years (nearly 18,000 individuals from over 2200 families) with psychiatric interviews, questionnaires, electrophysiology and DNA to identify genetic factors in alcohol use disorder and related outcomes."; "PMID:37581339"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1acc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17878; "individuals in 2246 families assessed in one or more waves over 30+ years (2023)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550787/fullTextXML"; rdfs:comment "To date, there have been 17,878 individuals in 2246 families who have participated in one or more of the assessment waves." . _:1acd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid6993; , , , , , ; ; "GCST90502765"; "A colorectal cancer genetic epidemiology consortium, approved at the University of Southern California and funded within the NCI GAME-ON post-GWAS initiative, that pools genome-wide genotype data from colorectal cancer case-control studies such as the Molecular Epidemiology of Colorectal Cancer Study, the Colon Cancer Family Registry and the Kentucky and Newfoundland case-control studies to find and characterise colorectal cancer susceptibility variants."; 7561; 6328; "CORECT", "ColoRectal Transdisciplinary Study", "Colorectal Cancer Transdisciplinary Study", "The Colorectal Transdisciplinary Study"; ; rdfs:label "Colorectal Transdisciplinary Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid6993 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ace2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid6993; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "We subsequently replicated these associations in two large colorectal cancer consortia of European-descent populations (allele frequency 0.09): Colorectal Transdisciplinary Study (CORECT) with 7,561 cases and 6,328 controls from 8 participating studies" . _:1acf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The CORECT study meta-analysis was conducted using germline DNA the Molecular Epidemiology of Colorectal Cancer study (MECC) (set 1: 484 cases and 498 controls; set 2: 1,120 cases and 820 controls), CCFR (set 1: 1,977 cases and 999 controls; set 2: 1,660 cases and 1,393 controls), Kentucky case-control study (1,038 cases and 1,134 controls), Newfoundland case-control study (548 cases and 538 controls), American Cancer Society CPS II nested case-control study (ACS/CPSII, 539 cases and 469 controls) and the Melbourne nested case-control study (195 cases and 477 controls)." . _:1ad02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The CORECT study meta-analysis was conducted using germline DNA the Molecular Epidemiology of Colorectal Cancer study (MECC) (set 1: 484 cases and 498 controls; set 2: 1,120 cases and 820 controls), CCFR (set 1: 1,977 cases and 999 controls; set 2: 1,660 cases and 1,393 controls), Kentucky case-control study (1,038 cases and 1,134 controls), Newfoundland case-control study (548 cases and 538 controls), American Cancer Society CPS II nested case-control study (ACS/CPSII, 539 cases and 469 controls) and the Melbourne nested case-control study (195 cases and 477 controls)." . _:1ad12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The CORECT study meta-analysis was conducted using germline DNA the Molecular Epidemiology of Colorectal Cancer study (MECC) (set 1: 484 cases and 498 controls; set 2: 1,120 cases and 820 controls), CCFR (set 1: 1,977 cases and 999 controls; set 2: 1,660 cases and 1,393 controls), Kentucky case-control study (1,038 cases and 1,134 controls), Newfoundland case-control study (548 cases and 538 controls), American Cancer Society CPS II nested case-control study (ACS/CPSII, 539 cases and 469 controls) and the Melbourne nested case-control study (195 cases and 477 controls)." . _:1ad22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The CORECT study meta-analysis was conducted using germline DNA the Molecular Epidemiology of Colorectal Cancer study (MECC) (set 1: 484 cases and 498 controls; set 2: 1,120 cases and 820 controls), CCFR (set 1: 1,977 cases and 999 controls; set 2: 1,660 cases and 1,393 controls), Kentucky case-control study (1,038 cases and 1,134 controls), Newfoundland case-control study (548 cases and 538 controls), American Cancer Society CPS II nested case-control study (ACS/CPSII, 539 cases and 469 controls) and the Melbourne nested case-control study (195 cases and 477 controls)." . _:1ad32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The CORECT study meta-analysis was conducted using germline DNA the Molecular Epidemiology of Colorectal Cancer study (MECC) (set 1: 484 cases and 498 controls; set 2: 1,120 cases and 820 controls), CCFR (set 1: 1,977 cases and 999 controls; set 2: 1,660 cases and 1,393 controls), Kentucky case-control study (1,038 cases and 1,134 controls), Newfoundland case-control study (548 cases and 538 controls), American Cancer Society CPS II nested case-control study (ACS/CPSII, 539 cases and 469 controls) and the Melbourne nested case-control study (195 cases and 477 controls)." . _:1ad42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The CORECT study meta-analysis was conducted using germline DNA the Molecular Epidemiology of Colorectal Cancer study (MECC) (set 1: 484 cases and 498 controls; set 2: 1,120 cases and 820 controls), CCFR (set 1: 1,977 cases and 999 controls; set 2: 1,660 cases and 1,393 controls), Kentucky case-control study (1,038 cases and 1,134 controls), Newfoundland case-control study (548 cases and 538 controls), American Cancer Society CPS II nested case-control study (ACS/CPSII, 539 cases and 469 controls) and the Melbourne nested case-control study (195 cases and 477 controls)." . _:1ad52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502765"; "Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer."; "PMID:38408508", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11213623/fullTextXML"; rdfs:comment "We conducted a GWAS meta-analysis of 6176 EOCRC cases and 65 829 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), the Colorectal Transdisciplinary Study (CORECT), the Colon Cancer Family Registry (CCFR), and the UK Biobank." . _:1ad62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A colorectal cancer genetic epidemiology consortium, approved at the University of Southern California and funded within the NCI GAME-ON post-GWAS initiative, that pools genome-wide genotype data from colorectal cancer case-control studies such as the Molecular Epidemiology of Colorectal Cancer Study, the Colon Cancer Family Registry and the Kentucky and Newfoundland case-control studies to find and characterise colorectal cancer susceptibility variants."; "PMID:25105248"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ad72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7561; "colorectal cancer cases and controls of European descent from 8 CORECT studies (replication in the 2014 trans-ethnic GWAS)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "This locus has not previously been reported to be associated with CRC.We subsequently replicated these associations in two large colorectal cancer consortia of European-descent populations (allele frequency 0.09): Colorectal Transdisciplinary Study (CORECT) with 7,561 cases and 6,328 controls from 8 participating studies (combined OR = 1.09, P = 0.036, Table 1) and Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) with 9,262 cases and 11,883 controls from 18 participating studies (combined OR = 1.09, P = 0.018, Table 1)." . _:1ad82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6328; "colorectal cancer cases and controls of European descent from 8 CORECT studies (replication in the 2014 trans-ethnic GWAS)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "This locus has not previously been reported to be associated with CRC.We subsequently replicated these associations in two large colorectal cancer consortia of European-descent populations (allele frequency 0.09): Colorectal Transdisciplinary Study (CORECT) with 7,561 cases and 6,328 controls from 8 participating studies (combined OR = 1.09, P = 0.036, Table 1) and Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) with 9,262 cases and 11,883 controls from 18 participating studies (combined OR = 1.09, P = 0.018, Table 1)." . _:1ad92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORECT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7006, _:genid-371333f489424440b12a13b9d98ced822608-genid7008, _:genid-371333f489424440b12a13b9d98ced822608-genid7010, _:genid-371333f489424440b12a13b9d98ced822608-genid7012, _:genid-371333f489424440b12a13b9d98ced822608-genid7014; , , , , ; "PMID:27598322"; "A network of cancer genetic epidemiology consortia, the NIH-funded post-cancer-GWAS initiative, that brings together genome-wide association data from colorectal (CORECT), breast (DRIVE), prostate (ELLIPSE), ovarian (FOCI) and lung (TRICL) cancer consortia, mainly of people of European descent."; 47800; 81353; "GAME-ON", "GAME-ON consortium", "Post-Cancer GWAS initiative", "The Genetic Associations and Mechanisms in Oncology"; rdfs:label "Genetic Associations and Mechanisms in Oncology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7006 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7008 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7010 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7012 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7014 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ada2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7006; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1adb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7008; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1adc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7010; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1add2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7012; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1ade2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7014; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1adf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1ae02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1ae12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1ae22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1ae32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "GAME-ON is network of genetic epidemiology consortia that contains GWAS data from the Colorectal Transdisciplinary Study (CORECT); Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE); Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE); Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI); and Transdisciplinary Research in Cancer of the Lung (TRICL)." . _:1ae42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27598322"; "Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses."; "PMID:27598322", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5012582/fullTextXML"; rdfs:comment "Additionally, we carried out Mendelian randomization analyses utilizing GWAS summary statistics from the Genetic Associations and Mechanisms in Oncology (GAME-ON) and Genetic Investigation of Anthropometric Traits (GIANT) consortia studies of individuals of European descent." . _:1ae52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A network of cancer genetic epidemiology consortia, the NIH-funded post-cancer-GWAS initiative, that brings together genome-wide association data from colorectal (CORECT), breast (DRIVE), prostate (ELLIPSE), ovarian (FOCI) and lung (TRICL) cancer consortia, mainly of people of European descent."; "PMID:27598322"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ae62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 47800; "cancer cases and controls in the GAME-ON GWAS data used for the 2016 height Mendelian randomization analysis"; "PMID:27598322"; rdfs:comment "Mendelian randomization analyses were conducted using summary statistics obtained for 423 genetic variants identified from a recent GWAS of adult height and from a cancer genetics consortium study of multiple cancers that included 47,800 cases and 81,353 controls." . _:1ae72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 81353; "cancer cases and controls in the GAME-ON GWAS data used for the 2016 height Mendelian randomization analysis"; "PMID:27598322"; rdfs:comment "Mendelian randomization analyses were conducted using summary statistics obtained for 423 genetic variants identified from a recent GWAS of adult height and from a cancer genetics consortium study of multiple cancers that included 47,800 cases and 81,353 controls." . _:1ae82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAME-ON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7026; , ; ; "GCST90244175"; "A cohort of patients with head and neck squamous cell carcinoma treated with radiotherapy within the protocols of the Danish Head and Neck Cancer Group (DAHANCA) in Denmark in 2000–2011, pooled from the DAHANCA 10 and DAHANCA 19 trials and the DAHANCA prospective biobank protocol, with standardised scoring of acute and late radiotherapy toxicity, used in radiogenomic studies."; 1183; "DAHANCA", "DAHANCA cohorts", "The Danish Head and Neck Cancer Group"; ; rdfs:label "DAHANCA cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7026 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ae92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7026; "head and neck squamous cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8980077/fullTextXML"; rdfs:comment "Patients in the discovery study were treated within The Danish Head and Neck Cancer Group (DAHANCA) protocols in Denmark for head and neck squamous cell carcinoma in the period of 2000–2011." . _:1aea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8980077/fullTextXML"; rdfs:comment "Patients in the discovery study were treated within The Danish Head and Neck Cancer Group (DAHANCA) protocols in Denmark for head and neck squamous cell carcinoma in the period of 2000–2011." . _:1aeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244175"; "Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer."; "PMID:36191651", "https://ars.els-cdn.com/content/image/1-s2.0-S0167814022044863-mmc1.docx"; rdfs:comment "DAHANCA cohorts comprised 1,183 patients treated within The Danish Head and Neck Cancer Group (DAHANCA) protocols in Denmark for head and neck squamous cell carcinoma in the period of 2000-2011" . _:1aec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with head and neck squamous cell carcinoma treated with radiotherapy within the protocols of the Danish Head and Neck Cancer Group (DAHANCA) in Denmark in 2000–2011, pooled from the DAHANCA 10 and DAHANCA 19 trials and the DAHANCA prospective biobank protocol, with standardised scoring of acute and late radiotherapy toxicity, used in radiogenomic studies."; "PMID:35039627"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1aed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1183; "HNSCC patients pooled from DAHANCA 10, DAHANCA 19 and the DAHANCA prospective biobank protocol (2000-2011)"; "PMID:35039627"; rdfs:comment "In a non-hypothesis-driven explorative discovery study, associations were tested in 1183 patients treated within The Danish Head and Neck Cancer Group." . _:1aee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DAHANCA"; . a owl:NamedIndividual, ; , ; ; "GCST90025866"; "A collaboration between the Regeneron Genetics Center and Geisinger Health System in which adult participants of Geisinger's MyCode Community Health Initiative are exome-sequenced and genotyped and linked to longitudinal electronic health records, for genomics-guided precision medicine and therapeutic discovery."; 50726; "DiscovEHR", "DiscovEHR cohort", "DiscovEHR collaboration", "Geisinger DiscovEHR-MyCode cohort", "discovEHR"; ; rdfs:label "DiscovEHR study"@en . _:1aef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11929344/fullTextXML"; rdfs:comment "For external validation, we obtained summary statistics from six different data sources based on a pre-defined protocol: the TransOmics and Precision Medicine Program supported by NHLBI (TOPMed) Program including multiple studies and a trans-ancestry population in the USA (n = 51,732), [40] the population-based deCODE dataset in Iceland (n = 345,992), [41] the hospital-based Penn Medicine Biobank (PMBB, n = 43,721), [42] the Million Veteran Program (MVP, n = 438,905), [43] the Geisinger DiscovEHR-MyCode cohort in central and northeastern Pennsylvania (n = 145,826), [44] as well as the hospital-based Mass General Brigham Biobank (MGBB, n = 36,419) [45]." . _:1af02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8457092/fullTextXML"; rdfs:comment "In short, the DiscovEHR cohort is a subset of individuals enrolled in the Geisinger Healthcare system who consented to participate in Geisinger's MyCode Community Health Initiative." . _:1af12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90025866"; "Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals."; "PMID:34184762", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8457092/fullTextXML"; rdfs:comment "Here we report a GWAS of serum ALT and AST levels in 388k unrelated individuals of European ancestry from UKB and DiscovEHR." . _:1af22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaboration between the Regeneron Genetics Center and Geisinger Health System in which adult participants of Geisinger's MyCode Community Health Initiative are exome-sequenced and genotyped and linked to longitudinal electronic health records, for genomics-guided precision medicine and therapeutic discovery."; "PMID:28008009"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1af32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50726; "adult MyCode participants exome-sequenced in the first DiscovEHR release (2016)"; "PMID:28008009"; rdfs:comment "We sequenced the exomes of 50,726 adult participants in the DiscovEHR study to identify ~4.2 million rare single-nucleotide variants and insertion/deletion events, of which ~176,000 are predicted to result in a loss of gene function." . _:1af42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DiscovEHR"; . _:1af52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "discovEHR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7040, _:genid-371333f489424440b12a13b9d98ced822608-genid7042, _:genid-371333f489424440b12a13b9d98ced822608-genid7044, _:genid-371333f489424440b12a13b9d98ced822608-genid7046, _:genid-371333f489424440b12a13b9d98ced822608-genid7048; , ; "GCST90454254"; "A Swedish population-based case-control study of multiple sclerosis in which incident cases were recruited from hospital-based and privately run neurology units and matched controls were randomly selected from the national population register, with questionnaires on environmental and lifestyle exposures and blood samples for genetic analyses."; 2805; 5674; "EIMS", "Epidemiologic Investigation in MS", "Epidemiological Investigation of MS"; ; rdfs:label "Epidemiological Investigation of Multiple Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7040 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7044 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7046 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7048 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1af62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7040; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244060/fullTextXML"; rdfs:comment "EIMS recruited incident cases of MS from hospital-based and privately run neurology units." . _:1af72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7042; "smoking and passive smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1af82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7044; "combustion-related ambient air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1af92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7046; "sun exposure habits"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1afa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7048; "environmental exposures and lifestyle factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1afb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244060/fullTextXML"; rdfs:comment "We used data from Epidemiological Investigation of Multiple Sclerosis (EIMS) and Genes and Environment in Multiple Sclerosis (GEMS), which are Swedish population-based, case-control studies." . _:1afc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454254"; "Genetics of immune response to Epstein-Barr virus: prospects for multiple sclerosis pathogenesis."; "PMID:38630618", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1afd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Swedish population-based case-control study of multiple sclerosis in which incident cases were recruited from hospital-based and privately run neurology units and matched controls were randomly selected from the national population register, with questionnaires on environmental and lifestyle exposures and blood samples for genetic analyses."; "PMID:36629499"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1afe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2805; "incident MS patients and matched population controls included since 2006 (to March 2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4657484/fullTextXML"; rdfs:comment "The ‘Epidemiology in MS’ (EIMS) project, an incident cohort of prospectively recruited patients with MS and matched population controls, has since its start in 2006 included 2805 patients with MS and 5674 controls (March 2015)." . _:1aff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5674; "incident MS patients and matched population controls included since 2006 (to March 2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4657484/fullTextXML"; rdfs:comment "The ‘Epidemiology in MS’ (EIMS) project, an incident cohort of prospectively recruited patients with MS and matched population controls, has since its start in 2006 included 2805 patients with MS and 5674 controls (March 2015)." . _:1b002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EIMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7056; ; , ; "PMID:26046553"; "A government-funded national quality registry of patients with multiple sclerosis, used in all Swedish neurology departments, that supports clinical decisions and serves as a research resource, hosting nested projects including an incidence cohort, a prevalence cohort and post-marketing cohorts of patients on novel disease-modifying drugs."; 14500; "SMSreg", "Swedish MS register", "Swedish Multiple Sclerosis Registry"; rdfs:label "Swedish MS registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7056 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7056; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26046553+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Swedish MS registry (SMSreg) is designed to assure quality health care for patients with multiple sclerosis (MS)." . _:1b022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26046553+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "It runs on government funding only and is used in all Swedish neurology departments." . _:1b032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26046553"; "The Swedish MS registry – clinical support tool and scientific resource."; "PMID:26046553", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26046553+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Swedish MS registry (SMSreg) is designed to assure quality health care for patients with multiple sclerosis (MS)." . _:1b042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A government-funded national quality registry of patients with multiple sclerosis, used in all Swedish neurology departments, that supports clinical decisions and serves as a research resource, hosting nested projects including an incidence cohort, a prevalence cohort and post-marketing cohorts of patients on novel disease-modifying drugs."; "PMID:26046553"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14500; "MS patients with data in the registry (of an estimated 17,500 prevalent in Sweden), 2015"; "PMID:26046553"; rdfs:comment "The SMSreg currently includes data on 14,500 of Sweden's estimated 17,500 prevalent patients with MS." . _:1b062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMSreg"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7063; , , , , , ; "GCST90267567"; "A multicentre sample of healthy non-diabetic offspring of patients with type 2 diabetes, recruited in Denmark, Finland, Germany, Italy and Sweden by the European Network on Functional Genomics of Type 2 Diabetes and examined with glucose tolerance tests and hyperinsulinaemic euglycaemic clamps to study the genetics of insulin secretion and insulin sensitivity."; 849; "EUGENE2", "EUGENE2 Consortium study populations"; ; rdfs:label "EUGENE2 study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7063 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7063; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19789630+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Oral and intravenous glucose stimulated insulin release (n = 849) and insulin sensitivity (n = 596) estimated from a hyperinsulinemic euglycemic clamp were measured in non-diabetic offspring of type 2 diabetic patients from five European populations." . _:1b082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2575233/fullTextXML"; rdfs:comment "We conducted our study on SGK genetic variance and potential associations with insulin secretory function in the German TUEF cohort and the EUGENE2 consortium (Denmark, Finland, Germany, Italy, and Sweden), as these two European diabetes risk populations were extensively phenotyped for insulin secretion traits at the prediabetic stage." . _:1b092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267567"; "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake."; "PMID:37291194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7614755/supplementaryFiles"; rdfs:comment "Supplementary Table 1 - cohort specific information Cohort Name KORA FHS Fenland-CoreExome Fenland-GWAS Fenland-OMICS Ely LURIC METSIM LIFE-Adult Sorbs ULSAM HTN-IR MACAD TaiChi RISC ADDITION-PRO RigCoh Inter99 Health_2008 BC1936 PPP Botnia MDC Botnia_families TUEF/TULIP EUGENE2" . _:1b0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre sample of healthy non-diabetic offspring of patients with type 2 diabetes, recruited in Denmark, Finland, Germany, Italy and Sweden by the European Network on Functional Genomics of Type 2 Diabetes and examined with glucose tolerance tests and hyperinsulinaemic euglycaemic clamps to study the genetics of insulin secretion and insulin sensitivity."; "PMID:18985156", "PMID:19789630"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 849; "non-diabetic offspring of type 2 diabetes patients with DNA available, five centres (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2747270/fullTextXML"; rdfs:comment "Altogether DNA from 849 non-diabetic offspring was available for examination: Danes (n = 253), Finns (n = 217), Germans (n = 149), Italians (n = 130), and Swedes (n = 100)." . _:1b0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EUGENE2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7070; , ; ; "GCST90704646"; "A multi-site case-control study run with GlaxoSmithKline that recruited people with Alzheimer's disease from memory referral clinics in Canada, with cognitively unimpaired controls from their non-biological relatives, friends or spouses, to find genetic variants associated with Alzheimer's disease risk and age at onset."; 753; 736; "GENADA", "GenADA", "GenADA study", "Genetic Alzheimer’s Disease Associations", "Genotype Phenotype Associations in Alzheimers Disease"; ; rdfs:label "Multi-Site Collaborative Study for Genotype-Phenotype Associations in Alzheimer's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7070 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7070; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17998437+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The hypothesis-generating data set consisted of 753 individuals with AD by National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association criteria recruited from 9 memory referral clinics in Canada and 736 ethnically matched control subjects;" . _:1b0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17998437+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The hypothesis-generating data set consisted of 753 individuals with AD by National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association criteria recruited from 9 memory referral clinics in Canada and 736 ethnically matched control subjects;" . _:1b0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/fullTextXML"; rdfs:comment "Across all studies, we filtered out duplicated variants and those with (1) missing data for effect size, s.e. or P value; (2) an absolute effect size >5 and (3) imputation quality <0.3 (0.8 for the GenADA study)." . _:1b102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site case-control study run with GlaxoSmithKline that recruited people with Alzheimer's disease from memory referral clinics in Canada, with cognitively unimpaired controls from their non-biological relatives, friends or spouses, to find genetic variants associated with Alzheimer's disease risk and age at onset."; "PMID:17998437"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 753; "AD cases from 9 Canadian memory clinics and cognitively normal controls in the discovery GWAS (2008)"; "PMID:17998437"; rdfs:comment "The hypothesis-generating data set consisted of 753 individuals with AD by National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association criteria recruited from 9 memory referral clinics in Canada and 736 ethnically matched control subjects; control subjects were recruited from nonbiological relatives, friends, or spouses of the patients and did not exhibit cognitive impairment by history or cognitive testing." . _:1b122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 736; "AD cases from 9 Canadian memory clinics and cognitively normal controls in the discovery GWAS (2008)"; "PMID:17998437"; rdfs:comment "The hypothesis-generating data set consisted of 753 individuals with AD by National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorders Association criteria recruited from 9 memory referral clinics in Canada and 736 ethnically matched control subjects; control subjects were recruited from nonbiological relatives, friends, or spouses of the patients and did not exhibit cognitive impairment by history or cognitive testing." . _:1b132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENADA"; . _:1b142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenADA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7079; ; , , ; ; "GCST90319889", "PGS000004"; "A hospital-based epidemiologic research programme run since 1988 at Aichi Cancer Center in Nagoya, Japan, whose participants are first-visit outpatients of Aichi Cancer Center Hospital (including the HERPACC-2, 2001–2005, and HERPACC-3, 2005–2013, phases), used for case-control studies of cancer such as oesophageal cancer and for genome-wide studies within the Japanese Consortium of Genetic Epidemiology Studies."; 22727; "HERPACC", "HERPACC Study", "Nagoya", "Nagoya Study"; , ; rdfs:label "Hospital-based Epidemiologic Research Program at Aichi Cancer Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7079 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7079; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10816704/fullTextXML"; rdfs:comment "We therefore performed a meta-analysis of two independent esophageal cancer case-control studies conducted within the HERPACC Study (692 cases and 995 controls) and the BBJ Study (416 cases and 86,515 controls)." . _:1b162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10816704/fullTextXML"; rdfs:comment "A total of 175,672 individuals were included in this GWAS meta-analysis of six Japanese cohorts, namely, the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (n = 4958)" . _:1b172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319889"; "Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people."; "PMID:38277453", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10816704/fullTextXML"; rdfs:comment "A total of 175,672 individuals were included in this GWAS meta-analysis of six Japanese cohorts, namely, the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (n = 4958)" . _:1b182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:1b192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based epidemiologic research programme run since 1988 at Aichi Cancer Center in Nagoya, Japan, whose participants are first-visit outpatients of Aichi Cancer Center Hospital (including the HERPACC-2, 2001–2005, and HERPACC-3, 2005–2013, phases), used for case-control studies of cancer such as oesophageal cancer and for genome-wide studies within the Japanese Consortium of Genetic Epidemiology Studies."; "PMID:15942624", "PMID:34897183", "PMID:38277453"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22727; "first-visit outpatients enrolled in the HERPACC-2 phase (2001-2005) only"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5142363/fullTextXML"; rdfs:comment "Among the participants, 22 727 (97.1%) completed the questionnaire satisfactorily and were enrolled in HERPACC." . _:1b1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HERPACC"; . _:1b1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nagoya"; . a owl:NamedIndividual, ; , ; , , ; "PMID:34897183"; "A consortium of Japanese population-based and hospital-based studies — the Tohoku Medical Megabank Community-Based Cohort Study, the Japan Public Health Center-based Prospective Study, the Japan Multi-Institutional Collaborative Cohort Study and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center — that pools genome-wide genotype data on healthy participants for genetic epidemiology, including genome-wide association studies of body mass index, height and weight."; 36305; "J-CGE", "Japanese Consortium of Genetic Epidemiology"; rdfs:label "Japanese Consortium of Genetic Epidemiology Studies"@en . _:1b1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8761561/fullTextXML"; rdfs:comment "The J-CGE consists of data analyzed among healthy participants from the Tohoku Medical Megabank Community-Based Cohort (TMM) Study, the Japan Public Health Centre-based Prospective (JPHC) Study, the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study, and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (Table 1)." . _:1b1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8761561/fullTextXML"; rdfs:comment "The J-CGE consists of data analyzed among healthy participants from the Tohoku Medical Megabank Community-Based Cohort (TMM) Study, the Japan Public Health Centre-based Prospective (JPHC) Study, the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study, and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (Table 1)." . _:1b1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34897183"; "Public Access to Summary Statistics for Genome-wide Association Studies of Body Mass Index, Weight, and Height Among Healthy Japanese Individuals: The Japanese Consortium of Genetic Epidemiology Studies."; "PMID:34897183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8761561/fullTextXML"; rdfs:comment "The J-CGE consists of data analyzed among healthy participants from the Tohoku Medical Megabank Community-Based Cohort (TMM) Study, the Japan Public Health Centre-based Prospective (JPHC) Study, the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study, and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (Table 1)." . _:1b202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of Japanese population-based and hospital-based studies — the Tohoku Medical Megabank Community-Based Cohort Study, the Japan Public Health Center-based Prospective Study, the Japan Multi-Institutional Collaborative Cohort Study and the Hospital-based Epidemiologic Research Program at Aichi Cancer Center — that pools genome-wide genotype data on healthy participants for genetic epidemiology, including genome-wide association studies of body mass index, height and weight."; "PMID:34897183"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 36305; "healthy participants from JPHC, J-MICC, TMM and HERPACC in the J-CGE BMI/height/weight GWAS (2021)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8761561/fullTextXML"; rdfs:comment "After quality control of the sample, the JPHC (3,525 men and 6,767 women), J-MICC (6,334 men and 7,736 women), TMM (3,123 men and 5,778 women), and HERPACC (1,502 men and 1,540 women) were combined to analyze 36,305 participants (Table 1)." . _:1b222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "J-CGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7094, _:genid-371333f489424440b12a13b9d98ced822608-genid7096; , , ; , , ; "GCST90319889"; "A population-based prospective cohort of about 140,000 registered residents aged 40–69 years in 11 public health centre areas across Japan, enrolled as Cohort I in 1990 and Cohort II in 1993 with questionnaires, blood samples and health check-up data and followed with repeat surveys, to study causes of cancer, cardiovascular disease and other diseases."; 140420; "JPHC", "JPHC Study", "Japan Public Health Center Study", "Japan Public Health Center-based Prospective Study on Cancer and Cardiovascular Diseases"; , ; rdfs:label "Japan Public Health Center-based Prospective Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid7094 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7096 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7094; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11763136+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "These data and blood samples serve as basis for the Japan Public Health Center-based prospective Study on cancer and cardiovascular diseases (JPHC Study)." . _:1b242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7096; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11763136+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "These data and blood samples serve as basis for the Japan Public Health Center-based prospective Study on cancer and cardiovascular diseases (JPHC Study)." . _:1b252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10816704/fullTextXML"; rdfs:comment "A total of 175,672 individuals were included in this GWAS meta-analysis of six Japanese cohorts, namely, the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (n = 4958) (25), the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study (n = 13,236) (26, 27), the Japan Public Health Center-based Prospective (JPHC) Study (n = 10,037) (28), the Tohoku Medical Megabank Community-Based Cohort (TMM) Study (n = 7857) (29), the Nagahama Prospective Cohort for Comprehensive Human Bioscience (Nagahama) Study (n = 4591) (30), and the BioBank Japan (BBJ) Study (n = 134,993) (31, 32) after imputation and quality control (QC) of individual subject genotype data (Supplementary Materials and tables S1 and S2)." . _:1b262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319889"; "Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people."; "PMID:38277453", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10816704/fullTextXML"; rdfs:comment "The J-CGE consisted of the following Japanese population-based and hospital-based studies: the HERPACC Study (25), the J-MICC Study (26, 27), the JPHC Study (28), and the TMM Study (29)." . _:1b272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of about 140,000 registered residents aged 40–69 years in 11 public health centre areas across Japan, enrolled as Cohort I in 1990 and Cohort II in 1993 with questionnaires, blood samples and health check-up data and followed with repeat surveys, to study causes of cancer, cardiovascular disease and other diseases."; "PMID:11763136", "PMID:25104790"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 140420; "registered residents set up as cohort subjects (Cohort I 1990 and Cohort II 1993), 1990-1993"; "PMID:11763136"; rdfs:comment "We set up 140,420 cohort subjects (68,722 men and 71,698 women) (61,595 in 1990 as Cohort I and 78,825 in 1993 as Cohort II) based on resident registry of 29 districts under 11 Public Health Center areas and baseline survey were submitted for them." . _:1b292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JPHC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7103; , , , , ; "GCST90308666"; "A multi-ancestry consortium that combined genome-wide association data from 29 studies (67,162 stroke cases and 454,450 controls, mainly of European and East Asian ancestry) in a meta-analysis of stroke and its aetiological subtypes, drawing on contributing groups such as METASTROKE, SiGN, CHARGE and COMPASS."; 67162; 454450; 521612; "MEGASTROKE", "MEGASTROKE project", "MegaStroke", "MegaStroke consortium"; ; rdfs:label "MEGASTROKE consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7103 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7103; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29531354+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32." . _:1b2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "BioBank Japan Project was started in 2003 and collected DNA and clinical information from a total of 200,000 patients suffering from at least one of 47 common diseases." . _:1b2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5968830/unicode"; rdfs:comment "Consortia providing stroke data: COMPASS Consortium, EPIC-CVD Consortium, EPIC-InterAct Consortium, ISGC, METASTROKE Consortium, Neurology Working Group of the CHARGE Consortium, NINDS-SiGN, UK Young Lacunar DNA Study, and MEGASTROKE Consortium." . _:1b2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5968830/unicode"; rdfs:comment "Consortia providing stroke data: COMPASS Consortium, EPIC-CVD Consortium, EPIC-InterAct Consortium, ISGC, METASTROKE Consortium, Neurology Working Group of the CHARGE Consortium, NINDS-SiGN, UK Young Lacunar DNA Study, and MEGASTROKE Consortium." . _:1b2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5968830/unicode"; rdfs:comment "Consortia providing stroke data: COMPASS Consortium, EPIC-CVD Consortium, EPIC-InterAct Consortium, ISGC, METASTROKE Consortium, Neurology Working Group of the CHARGE Consortium, NINDS-SiGN, UK Young Lacunar DNA Study, and MEGASTROKE Consortium." . _:1b2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Case and control subjects included in the discovery phase were subjects of European ancestry aged >55 years in the Genetics of Cerebral Hemorrhage with Anticoagulation13 (GOCHA) study (multicenter study in the US) and aged >18 years in the Genetic and Environmental Risk Factors for Hemorrhagic Stroke (GERFHS) studies I and II in Cincinnati, OH; Hospital del Mar Intracerebral Hemorrhage study and Vall d’Hebron Hospita lCH study in Barcelona, Spain; Jagiellonian University Hemorrhagic Stroke Study in Krakow, Poland; and the Lund Stroke Register study in Lund, Sweden." . _:1b302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308666"; "Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries."; "PMID:37601974", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37601974+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide meta-analysis of 16 biobanks across multiple ancestries to study the genetics of ischemic stroke (60,176 cases, 1,310,725 controls) as part of the Global Biobank Meta-analysis Initiative (GBMI) and further combined the results with previously published MegaStroke." . _:1b312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-ancestry consortium that combined genome-wide association data from 29 studies (67,162 stroke cases and 454,450 controls, mainly of European and East Asian ancestry) in a meta-analysis of stroke and its aetiological subtypes, drawing on contributing groups such as METASTROKE, SiGN, CHARGE and COMPASS."; "PMID:29531354"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 67162; "stroke cases and controls from 29 studies in the 2018 multiancestry GWAS meta-analysis"; "PMID:29531354"; rdfs:comment "We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32." . _:1b332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 454450; "stroke cases and controls from 29 studies in the 2018 multiancestry GWAS meta-analysis"; "PMID:29531354"; rdfs:comment "We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32." . _:1b342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 521612; "stroke cases and controls from 29 studies in the 2018 multiancestry GWAS meta-analysis"; "PMID:29531354"; rdfs:comment "We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32." . _:1b352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEGASTROKE"; . _:1b362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MegaStroke"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7117, _:genid-371333f489424440b12a13b9d98ced822608-genid7119; , ; ; "GCST90444478"; "A nationwide French cohort of 2323 non-demented adults with isolated subjective cognitive complaints or mild cognitive impairment, recruited in memory clinics from 2011 to 2014 and followed with standardised clinical, neuropsychological, neuroimaging and biomarker assessments to study the natural history of Alzheimer's disease and related disorders."; 2323; "MEMENTO", "MEMENTO cohort study", "Memento"; ; rdfs:label "MEMENTO cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7117 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7119 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7117; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28851447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the nationwide French MEMENTO cohort study, participants were recruited in memory clinics and screened for either isolated subjective cognitive complaints (SCCs) or mild cognitive impairment (MCI; defined as test performance 1.5 SD below age, sex and education-level norms) while not demented (Clinical Dementia Rating [CDR] <1)." . _:1b382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7119; "Alzheimer's disease and related disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28851447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the nationwide French MEMENTO cohort study, participants were recruited in memory clinics and screened for either isolated subjective cognitive complaints (SCCs) or mild cognitive impairment (MCI; defined as test performance 1.5 SD below age, sex and education-level norms) while not demented (Clinical Dementia Rating [CDR] <1)." . _:1b392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28851447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the nationwide French MEMENTO cohort study, participants were recruited in memory clinics and screened for either isolated subjective cognitive complaints (SCCs) or mild cognitive impairment (MCI;" . _:1b3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444478"; "Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration."; "PMID:39251807", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/fullTextXML"; rdfs:comment "The current study includes 18532 participants of European and 1142 participants of African- American ancestry from 11 different cohorts of the CHARGE consortium including: the Rotterdam Study (RS-I and RS-II, N = 4119), the Rhineland Study (N = 4019), the MEMENTO cohort (N = 2195), the Framingham Heart Study (FHS, N = 2048), the BiDirect study (N = 1899), the CHS (African-American N = 273, European-American N = 1396), the ARIC (African-American N = 823, European American N = 742), the VESTA (N = 828), the ADNI (N = 578), the CARDIA (African-American N = 128, European-American N = 343) Study" . _:1b3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide French cohort of 2323 non-demented adults with isolated subjective cognitive complaints or mild cognitive impairment, recruited in memory clinics from 2011 to 2014 and followed with standardised clinical, neuropsychological, neuroimaging and biomarker assessments to study the natural history of Alzheimer's disease and related disorders."; "PMID:28851447"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2323; "non-demented memory-clinic participants recruited April 2011 to June 2014 (2011-2014)"; "PMID:28851447"; rdfs:comment "The 2323 participants, recruited from April 2011 to June 2014, were aged 71 years, on average (SD 8.7), and 62% were women." . _:1b3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEMENTO"; . _:1b3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Memento"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7127, _:genid-371333f489424440b12a13b9d98ced822608-genid7129; , ; ; "GCST005838"; "A prospective registry at the University of Miami that offers enrolment to consecutive patients admitted with stroke or transient ischaemic attack, a predominantly Hispanic and Black multiethnic population, contributing cases to the NINDS Stroke Genetics Network."; 473; "MIAMISR", "Miami Stroke Registry and Biorepository"; ; rdfs:label "Miami Stroke Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7127 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7129 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7127; "stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Miami Stroke Registry and Biorepository (MIAMISR) The MIAMISR at the University of Miami/Jackson Memorial Hospital (Miami, FL, U.S.A.) is an ongoing prospective hospital registry of consecutive patients subjects with prevalent stroke (ischemic and hemorrhagic) and TIA with available neuroimaging (CT or MRI) who provide informed consent." . _:1b402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7129; "transient ischemic attack"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Miami Stroke Registry and Biorepository (MIAMISR) The MIAMISR at the University of Miami/Jackson Memorial Hospital (Miami, FL, U.S.A.) is an ongoing prospective hospital registry of consecutive patients subjects with prevalent stroke (ischemic and hemorrhagic) and TIA with available neuroimaging (CT or MRI) who provide informed consent." . _:1b412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:1b422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005838"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Miami Stroke Registry and Biorepository (MIAMISR) The MIAMISR at the University of Miami/Jackson Memorial Hospital (Miami, FL, U.S.A.) is an ongoing prospective hospital registry of consecutive patients subjects with prevalent stroke (ischemic and hemorrhagic) and TIA with available neuroimaging (CT or MRI) who provide informed consent." . _:1b432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective registry at the University of Miami that offers enrolment to consecutive patients admitted with stroke or transient ischaemic attack, a predominantly Hispanic and Black multiethnic population, contributing cases to the NINDS Stroke Genetics Network."; "PMID:25041610"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 473; "stroke patients prospectively enrolled in the registry and analysed for stroke subtypes (2014 paper)"; "PMID:24122024"; rdfs:comment "Among 473 stroke patients (mean age 64 ± 14 years; 63.7% were men) of which 52.9% were Hispanic, 22.6% were AA, 13.5% NHBC and 11.0% were NHW." . _:1b452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIAMISR"; . a owl:NamedIndividual, ; , ; , ; ; "GCST90501352"; "A population-based cohort of 33,346 residents of the city of Malmö in southern Sweden, recruited by pre-specified birth-year groups for health examinations from 1974 to 1992, whose samples and data are used in genetic and biomarker studies of disease."; "The acronym MPP also denotes China Patient-centered Evaluative Assessment of Cardiac Events Million Persons Project (COHO:0002693); this term is Malmö Preventive Project."@en; 33346; "MPP"; ; rdfs:label "Malmö Preventive Project"@en . _:1b462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12902255/fullTextXML"; rdfs:comment "We included participants from three cohorts for the GWAS meta-analysis: the Malmö Diet and Cancer study (MDCS) and the Malmö Preventive Project (MPP), both consisting of participants from the city of Malmö in southern Sweden; the Prevention of REnal and Vascular ENd-stage Disease (PREVEND) study, consisting of participants from the city of Groningen in northern Netherlands; and conducted the PheWAS in the UK Biobank (UKB) from the United Kingdom." . _:1b472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90501352"; "A genome- and phenome-wide association study of plasma procalcitonin concentrations in individuals of European ancestry."; "PMID:41406505", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12902255/fullTextXML"; rdfs:comment "The two Swedish cohorts “Malmö Diet and Cancer study” (MDCS) and “Malmö Preventive Project” (MPP) have ethics approval from the Regional Ethics Committee at the University of Lund (LU 51–90, LU 244-02, and Dnr 2009/633)." . _:1b482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 33,346 residents of the city of Malmö in southern Sweden, recruited by pre-specified birth-year groups for health examinations from 1974 to 1992, whose samples and data are used in genetic and biomarker studies of disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12902255/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 33346; "Malmö residents recruited by birth-year groups for health examinations, 1974-1992"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12902255/fullTextXML"; rdfs:comment "MPP is also population-based, including 33,346 participants recruited by pre-specified birth year groups for health examinations from 1974 to 1992." . _:1b4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7141; , , , , , , , , ; "GCST90104462"; "A European cross-linguistic sample of school-age children, including more than 900 with dyslexia sampled with homogeneous inclusion criteria across eight European countries and a comparable number of controls, assembled by the EU-funded NeuroDys consortium to study the genetics of dyslexia."; 958; 1150; 2108; "NeuroDys", "NeuroDys Cohort"; ; rdfs:label "NeuroDys cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7141 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7141; "dyslexia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3992562/"; rdfs:comment "The NeuroDys cohort is composed of 958 dyslexia cases and 1150 controls from eight different European countries: Austria, France, Germany, The Netherlands, Switzerland, Finland, Hungary, and the United Kingdom (Table 2)." . _:1b4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3992562/"; rdfs:comment "The NeuroDys cohort is composed of 958 dyslexia cases and 1150 controls from eight different European countries: Austria, France, Germany, The Netherlands, Switzerland, Finland, Hungary, and the United Kingdom" . _:1b4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "NeuroDys was funded by an EU Sixth Framework Program grant to the NeuroDys Consortium, Swiss National Science Foundation Grant 32-108130, and Austrian Science Fund Grant 18351-B02." . _:1b4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European cross-linguistic sample of school-age children, including more than 900 with dyslexia sampled with homogeneous inclusion criteria across eight European countries and a comparable number of controls, assembled by the EU-funded NeuroDys consortium to study the genetics of dyslexia."; "PMID:24022301"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 958; "dyslexia cases and controls in eight European countries"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3992562/"; rdfs:comment "Cases 148 138 157 107 30 175 78 125 580 958 Controls 199 68 199 116 43 161 155 209 625 1150 Total 347 206 356 223 73 336 233 334 1205 2108" . _:1b502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1150; "dyslexia cases and controls in eight European countries"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3992562/"; rdfs:comment "Cases 148 138 157 107 30 175 78 125 580 958 Controls 199 68 199 116 43 161 155 209 625 1150 Total 347 206 356 223 73 336 233 334 1205 2108" . _:1b512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2108; "dyslexia cases and controls in eight European countries"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3992562/"; rdfs:comment "Cases 148 138 157 107 30 175 78 125 580 958 Controls 199 68 199 116 43 161 155 209 625 1150 Total 347 206 356 223 73 336 233 334 1205 2108" . _:1b522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NeuroDys"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7150, _:genid-371333f489424440b12a13b9d98ced822608-genid7152; , , ; "GCST90002231"; "A population-based cohort of 3,289 adults aged 50–70 years from urban and rural Beijing and Shanghai, China, recruited in 2005 and resurveyed after six years, designed to investigate environmental and genetic factors and their interactions in cardiometabolic diseases."; 3289; "NHAPC", "Nutrition and Health of Aging People in China", "Nutrition and Health of Aging Population in China study"; ; rdfs:label "Nutrition and Health of Aging Population in China"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7150 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7152 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7150; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8308381/fullTextXML"; rdfs:comment "The participants were from a population-based cohort entitled the Nutrition and Health of Aging People in China (NHAPC) study, which was designed to investigate environmental and genetic factors and their interactions on cardiometabolic diseases [21,22]." . _:1b542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7152; "environmental factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8308381/fullTextXML"; rdfs:comment "The participants were from a population-based cohort entitled the Nutrition and Health of Aging People in China (NHAPC) study, which was designed to investigate environmental and genetic factors and their interactions on cardiometabolic diseases [21,22]." . _:1b552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8308381/fullTextXML"; rdfs:comment "Briefly, 3289 adults aged 50–70 years from Beijing and Shanghai were recruited in 2005, and 2529 (76.9%) of them were followed for 6 years." . _:1b562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002231"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Nutrition and Health of Aging Population in China (NHAPC) 18633108; 22961080" . _:1b572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 3,289 adults aged 50–70 years from urban and rural Beijing and Shanghai, China, recruited in 2005 and resurveyed after six years, designed to investigate environmental and genetic factors and their interactions in cardiometabolic diseases."; "PMID:34208976"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3289; "adults aged 50-70 recruited at baseline (2005)"; "PMID:34208976"; rdfs:comment "Briefly, 3289 adults aged 50–70 years from Beijing and Shanghai were recruited in 2005, and 2529 (76.9%) of them were followed for 6 years." . _:1b592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHAPC"; . a owl:NamedIndividual, ; , ; "GCST90132184"; "A genomic biobank sponsored by the Center for Genetic Medicine at Northwestern University in partnership with Northwestern Medicine, collecting DNA samples and self-reported and electronic medical record health information from patients of Northwestern Medicine-affiliated hospitals and clinics to study the role of genes in common diseases and their treatment."; 14000; "NUGENE", "NUgene", "NUgene (Northwestern University)", "NUgene biobank", "Nugene"; ; rdfs:label "NUgene Project"@en . _:1b5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132184"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "Northewestern University Genetics (NUGENE) was funded by the Northwestern University’s Center for Genetic Medicine, Northwestern University, and Northwestern Memorial Hospital. Samples and data used in this study were provided by the NUgene Project (www.nugene.org)." . _:1b5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genomic biobank sponsored by the Center for Genetic Medicine at Northwestern University in partnership with Northwestern Medicine, collecting DNA samples and self-reported and electronic medical record health information from patients of Northwestern Medicine-affiliated hospitals and clinics to study the role of genes in common diseases and their treatment."; "https://www.cgm.northwestern.edu/cores/nugene/index.html"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14000; "samples with EMR data on Northwestern patients (stated as over 14,000)"; "https://www.cgm.northwestern.edu/cores/nugene/index.html"; rdfs:comment "With over 14,000 samples and corresponding electronic medical record data on Northwestern patients, the NUgene Project can provide both case and control samples and data for research uses." . _:1b5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NUGENE"; . _:1b5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NUgene"; . _:1b5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nugene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7165, _:genid-371333f489424440b12a13b9d98ced822608-genid7167, _:genid-371333f489424440b12a13b9d98ced822608-genid7169; , ; ; "GCST90244175"; "A Spanish cohort of cancer patients treated with radiotherapy at the Clinical University Hospital of Santiago de Compostela, Galicia, with prostate (RADIOGEN-Prostate, from 2005), lung (RADIOGEN-Lung, 2008–2015) and head and neck cancer sub-cohorts, collecting blood samples, dosimetry, clinical and toxicity data to identify genetic and epigenetic predictors of radiotherapy toxicity."; "RADIOGEN", "RADIOGEN study"; ; rdfs:label "RADIOGEN cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7165 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7167 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7169 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7165; "head and neck cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8004670/fullTextXML"; rdfs:comment "One hundred and seventy-eight patients with diagnosis of stages I–III NSCLC who completed the 3-month follow-up were selected from the RADIOGEN-Lung cohort (a study on the genomic influence in patients undergoing RT) that comprises 514 Galician individuals (northwest Spain)." . _:1b612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7167; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8004670/fullTextXML"; rdfs:comment "One hundred and seventy-eight patients with diagnosis of stages I–III NSCLC who completed the 3-month follow-up were selected from the RADIOGEN-Lung cohort (a study on the genomic influence in patients undergoing RT) that comprises 514 Galician individuals (northwest Spain)." . _:1b622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7169; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8004670/fullTextXML"; rdfs:comment "One hundred and seventy-eight patients with diagnosis of stages I–III NSCLC who completed the 3-month follow-up were selected from the RADIOGEN-Lung cohort (a study on the genomic influence in patients undergoing RT) that comprises 514 Galician individuals (northwest Spain)." . _:1b632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8004670/fullTextXML"; rdfs:comment "Patients were recruited at the Radiation Oncology Department of the Clinical University Hospital of Santiago de Compostela, Spain, between March 2008 and May 2015." . _:1b642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244175"; "Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer."; "PMID:36191651", "https://ars.els-cdn.com/content/image/1-s2.0-S0167814022044863-mmc1.docx"; rdfs:comment "RADIOGEN-HNC Cohort: One hundred and ninety-three Galician individuals (NW Spain) integrate the RADIOGEN-head and neck cohort (Study on the genomic influence in patients undergoing RT)." . _:1b652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Spanish cohort of cancer patients treated with radiotherapy at the Clinical University Hospital of Santiago de Compostela, Galicia, with prostate (RADIOGEN-Prostate, from 2005), lung (RADIOGEN-Lung, 2008–2015) and head and neck cancer sub-cohorts, collecting blood samples, dosimetry, clinical and toxicity data to identify genetic and epigenetic predictors of radiotherapy toxicity."; "PMID:33810047", "PMID:37862240", "PMID:40050897"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RADIOGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7175; , ; ; "GCST90012825"; "A longitudinal clinical-pathologic cohort study of ageing and Alzheimer's disease run by the Rush Alzheimer's Disease Center, which since 1994 has enrolled older Catholic nuns, priests and brothers from across the United States who are free of dementia at enrolment and agree to annual clinical evaluations and brain donation at death."; 1168; "ROS", "Religious Order Study"; ; rdfs:label "Religious Orders Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7175 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7175; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22471860+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Religious Orders Study is a longitudinal clinical-pathologic cohort study of aging and Alzheimer's disease (AD)." . _:1b682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6380522/unicode"; rdfs:comment "ROS started in 1994 and enrolls nuns priests and brothers from across the United States." . _:1b692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90012825"; "Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies."; "PMID:28322283", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5608624/unicode"; rdfs:comment "The subjects consisted of participants from two longitudinal cohort studies operated out of The Rush Alzheimer’s Disease Center in Chicago, the Religious Order Study (ROS) and the Rush Memory and Aging Project (MAP)." . _:1b6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal clinical-pathologic cohort study of ageing and Alzheimer's disease run by the Rush Alzheimer's Disease Center, which since 1994 has enrolled older Catholic nuns, priests and brothers from across the United States who are free of dementia at enrolment and agree to annual clinical evaluations and brain donation at death."; "PMID:22471860", "PMID:29865057"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1168; "persons who agreed to participate, January 1994 to October 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3409291/"; rdfs:comment "From January of 1994 through October of 2011, 1,168 persons agreed to participate and the baseline clinical evaluation has been completed on 1,162." . _:1b6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7182, _:genid-371333f489424440b12a13b9d98ced822608-genid7184, _:genid-371333f489424440b12a13b9d98ced822608-genid7186, _:genid-371333f489424440b12a13b9d98ced822608-genid7188, _:genid-371333f489424440b12a13b9d98ced822608-genid7190, _:genid-371333f489424440b12a13b9d98ced822608-genid7192; , , ; "PMID:35012447"; "A genome-wide association study dataset that aggregates common measures from three large substance-abuse studies, the Collaborative Study on the Genetics of Alcoholism, the Family Study of Cocaine Dependence and the Collaborative Genetic Study of Nicotine Dependence, funded as part of the NIH Gene Environment Association Studies (GENEVA) initiative."; "The acronym SAGE also denotes Study of African Americans, Asthma, Genes and Environments (COHO:0000794) and Study of Asthma, Genes and the Environment (COHO:0002338); this term is Study of Addiction: Genetics and Environment."@en; 4121; "SAGE", "Study of Addiction - Genetics and Environment", "Study of Addiction: Genes and Environment"; rdfs:label "Study of Addiction: Genetics and Environment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7182 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7184 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7186 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7188 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7190 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7192 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7182; "cocaine dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7184; "alcoholism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7186; "nicotine dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7188; "alcohol"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7190; "nicotine"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7192; "cocaine"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35012447"; "Polygenic risk prediction based on singular value decomposition with applications to alcohol use disorder."; "PMID:35012447", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8744290/fullTextXML"; rdfs:comment "The SAGE aggregated data containing common measures from three large scale studies in the substance abuse field: the Collaborative Study on the Genetics of Alcoholism (COGA), the Family Study of Cocaine Dependence (FSCD), and the Collaborative Genetic Study of Nicotine Dependence (COGEND)." . _:1b772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study dataset that aggregates common measures from three large substance-abuse studies, the Collaborative Study on the Genetics of Alcoholism, the Family Study of Cocaine Dependence and the Collaborative Genetic Study of Nicotine Dependence, funded as part of the NIH Gene Environment Association Studies (GENEVA) initiative."; "PMID:35012447", "PMID:37715138"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4121; "consented subjects in the pooled SAGE dataset (COGA, FSCD, COGEND)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000092.v1.p1"; rdfs:comment "Total number of consented subjects: 4121" . _:1b792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7201, _:genid-371333f489424440b12a13b9d98ced822608-genid7203, _:genid-371333f489424440b12a13b9d98ced822608-genid7205; , ; "GCST90095141"; "A clinic-based case–control study of childhood-onset asthma in African American children and youth recruited in the San Francisco Bay Area, United States, run by the University of California, San Francisco, to untangle the genetic and environmental basis of asthma in minority populations."; "The acronym SAGE also denotes Study of Addiction: Genetics and Environment (COHO:0000793) and Study of Asthma, Genes and the Environment (COHO:0002338); this term is Study of African Americans, Asthma, Genes and Environments."@en; 1730; "SAGE", "Study of African Americans, Asthma, Genes & Environments", "Study of African Americans, Asthma, Genes, and Environment", "Study of African Americans, Asthma, Genes, and Environments"; ; rdfs:label "Study of African Americans, Asthma, Genes and Environments"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7201 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7203 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7205 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7201; "childhood-onset asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "GALA II and SAGE are two clinic-based case-control studies focused on untangling the genetic and environmental basis of childhood-onset asthma disease in minority ethnic groups of the United States of America [22]." . _:1b7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7203; "early-life air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "GALA II and SAGE are two clinic-based case-control studies focused on untangling the genetic and environmental basis of childhood-onset asthma disease in minority ethnic groups of the United States of America [22]." . _:1b7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7205; "environmental basis of childhood-onset asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "GALA II and SAGE are two clinic-based case-control studies focused on untangling the genetic and environmental basis of childhood-onset asthma disease in minority ethnic groups of the United States of America [22]." . _:1b7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "Recruitment was performed in different centers throughout mainland United States and Puerto Rico for GALA II subjects, while SAGE participants were recruited in the San Francisco Bay Area." . _:1b7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095141"; "Role of Sex on the Genetic Susceptibility to Childhood Asthma in Latinos and African Americans."; "PMID:34834492", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "The genetic role of sex on asthma susceptibility was assessed in the Genes-environments & Admixture in Latino Americans (GALA II) and the Study of African Americans, Asthma, Genes, and Environments (SAGE) studies [22]." . _:1b7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case–control study of childhood-onset asthma in African American children and youth recruited in the San Francisco Bay Area, United States, run by the University of California, San Francisco, to untangle the genetic and environmental basis of asthma in minority populations."; "PMID:34834492"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1730; "analysed subset: African American participants selected for a sex-stratified asthma GWAS"; "PMID:34834492"; rdfs:comment "For the current analyses, a subset of 6021 individuals (4291 Latinos and 1730 African Americans) was selected based on genotype and demographic data availability." . _:1b812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7212; , , ; , , ; "GCST90002231"; "A population-based case-control study of breast cancer among women aged 25–70 who were permanent residents of urban Shanghai, China, recruited in two phases (August 1996–March 1998 and April 2002–February 2005)."; "The acronym SBCS also denotes Spanish Bladder Cancer Study (COHO:0000797) and Sheffield Breast Cancer Study (COHO:0002346); this term is Shanghai Breast Cancer Study."@en; 3443; 3474; "SBCS"; ; rdfs:label "Shanghai Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7212 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7212; "breast cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4591050/unicode"; rdfs:comment "We analyzed data from the Shanghai Breast Cancer Study (SBCS), a population-based case-control study conducted among women in urban Shanghai, China." . _:1b832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4591050/unicode"; rdfs:comment "We analyzed data from the Shanghai Breast Cancer Study (SBCS), a population-based case-control study conducted among women in urban Shanghai, China." . _:1b842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002231"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Shanghai Breast Cancer Study population-based, control samples" . _:1b852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer among women aged 25–70 who were permanent residents of urban Shanghai, China, recruited in two phases (August 1996–March 1998 and April 2002–February 2005)."; "PMID:24323821"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3443; "cases and controls recruited in phases I and II (no stated overall total), 2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4591050/"; rdfs:comment "A total of 3,443 (response rate: 86.3%) cases and 3,474 (response rate: 78.1%) controls were recruited." . _:1b872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3474; "cases and controls recruited in phases I and II (no stated overall total), 2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4591050/"; rdfs:comment "A total of 3,443 (response rate: 86.3%) cases and 3,474 (response rate: 78.1%) controls were recruited." . _:1b882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7220; , , ; ; ; "GCST90011771"; "A population-based study of Malay adults aged 40–79 years living in south-western Singapore, selected by age-stratified random sampling and examined with standardised interviews, ocular and systemic assessments and stored blood and urine samples, to measure the prevalence and risk factors of age-related eye diseases in people of Malay ethnicity."; 3280; "SIMES", "SiMES"; ; rdfs:label "Singapore Malay Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7220 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7220; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17365815+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study summarizes the rationale and study design of a population-based study of eye diseases among adult Malays in Singapore." . _:1b8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17365815+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study summarizes the rationale and study design of a population-based study of eye diseases among adult Malays in Singapore.MethodsA population-based cross-sectional study of Malays was designed in Singapore." . _:1b8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10630666/fullTextXML"; rdfs:comment "At baseline visit, Malay, Indian, and Chinese subjects from SEED were recruited under 3 studies: the Singapore Malay Eye Study (year 2004–2006), the Singapore Indian Eye Study (year 2007–2009), and the Singapore Chinese Eye Study (year 2009–2011)." . _:1b8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011771"; "Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia."; "PMID:32936915", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32936915+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genetic determinants of HbA1c can vary across populations and many of the genetic variants influencing HbA1c level were specific to populations.ObjectiveTo discover genetic variants associated with HbA1c level in nondiabetic Malay individuals.Design and participantsWe conducted a genome-wide association study (GWAS) analysis for HbA1c using 2 Malay studies, the Singapore Malay Eye Study (SiMES, N = 1721 on GWAS array) and the Living Biobank study (N = 983 on GWAS array and whole-exome sequenced)." . _:1b8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of Malay adults aged 40–79 years living in south-western Singapore, selected by age-stratified random sampling and examined with standardised interviews, ocular and systemic assessments and stored blood and urine samples, to measure the prevalence and risk factors of age-related eye diseases in people of Malay ethnicity."; "PMID:17365815"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3280; "Malay adults aged 40-80 examined in the baseline study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The Singapore Malay Eye Study (SiMES) is a population-based, cross-sectional study of Malay adults (N = 3,280), aged 40 – 80 years living in Singapore." . _:1b8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIMES"; . _:1b902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SiMES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7229, _:genid-371333f489424440b12a13b9d98ced822608-genid7231, _:genid-371333f489424440b12a13b9d98ced822608-genid7233, _:genid-371333f489424440b12a13b9d98ced822608-genid7235; , ; , ; "GCST90011858"; "A hospital-based case-control study of bladder cancer (the EPICURO study) that enrolled patients newly diagnosed with urothelial carcinoma of the bladder in 1998–2001 at 18 hospitals in five regions of Spain and individually matched hospital controls, to study environmental, occupational and genetic risk factors for bladder cancer."; "The acronym SBCS also denotes Shanghai Breast Cancer Study (COHO:0000795) and Sheffield Breast Cancer Study (COHO:0002346); this term is Spanish Bladder Cancer Study."@en; 1219; 1271; "EPICURO", "SBC", "SBCS", "SpBCS", "Spanish Bladder Cancer EPICURO Study", "Spanish Bladder Cancer/EPICURO study"; ; rdfs:label "Spanish Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7229 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7231 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7233 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7235 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1b912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7229; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "The Spanish study included cases newly diagnosed with urothelial carcinoma of the bladder between 1998 and 2001 at 18 hospitals in five regions of Spain and hospital controls individually matched to the cases on age at diagnosis/interview, sex, and hospital (706 White cases and 772 White controls with complete exposure information and genotyping data)." . _:1b922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7231; "occupational exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "Participants provided a lifetime residential history, occupational history from 16 years of age, water source at each residence and job, and average daily water consumption." . _:1b932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7233; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "Participants provided a lifetime residential history, occupational history from 16 years of age, water source at each residence and job, and average daily water consumption." . _:1b942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7235; "disinfection by-products (trihalomethanes) in drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "Participants provided a lifetime residential history, occupational history from 16 years of age, water source at each residence and job, and average daily water consumption." . _:1b952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "The Spanish study included cases newly diagnosed with urothelial carcinoma of the bladder between 1998 and 2001 at 18 hospitals in five regions of Spain and hospital controls individually matched to the cases on age at diagnosis/interview, sex, and hospital (706 White cases and 772 White controls with complete exposure information and genotyping data)." . _:1b962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011858"; "A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer."; "PMID:33517887", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7849104/fullTextXML"; rdfs:comment "To increase statistical power, we included controls from the Spanish Bladder Cancer (SBC)/EPICURO study, carried out in the same geographical areas where PanGenEU study was conducted." . _:1b972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer (the EPICURO study) that enrolled patients newly diagnosed with urothelial carcinoma of the bladder in 1998–2001 at 18 hospitals in five regions of Spain and individually matched hospital controls, to study environmental, occupational and genetic risk factors for bladder cancer."; "PMID:35536285"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1b982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1219; "incident bladder cancer cases and hospital controls recruited 1998-2001 (no stated overall total)"; "PMID:19478234"; rdfs:comment "The analysis included 1,219 incident bladder cancer cases and 1,271 controls recruited in Spain in 1998-2001." . _:1b992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1271; "incident bladder cancer cases and hospital controls recruited 1998-2001 (no stated overall total)"; "PMID:19478234"; rdfs:comment "The analysis included 1,219 incident bladder cancer cases and 1,271 controls recruited in Spain in 1998-2001." . _:1b9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPICURO"; . _:1b9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBC"; . _:1b9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBCS"; . _:1b9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SpBCS"; . a owl:NamedIndividual, ; , , ; "GCST90841456"; "A hospital-based cohort of more than 100,000 Chinese pregnant women who had non-invasive prenatal testing at Longgang District Maternity and Child Healthcare Hospital and Shenzhen Baoan Women's and Children's Hospital in Shenzhen, China, whose low-depth NIPT sequencing data are linked to laboratory and electronic medical records to study the genetics of pregnancy traits and complications."; 121556; "Chinese MONN cohort", "MONN", "MONN study", "SZ-MONN-NIPT"; ; rdfs:label "Shenzhen Maternal and Neonatal NIPT cohort"@en . _:1b9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11033587/fullTextXML"; rdfs:comment "We integrated NIPT data and time-dependent platelet count measurements in 5 periods of pregnancy and conducted, to the best of our knowledge, the first and the hitherto largest-scale GWAS on platelet count and GT during pregnancy, among 100 186 Chinese pregnant women from 2 hospitals at Shenzhen, China." . _:1b9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841456"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/fullTextXML"; rdfs:comment "The largest and most recent GDM GWASs to date include the FinnGen study (12,332 cases; 131,109 controls; European ancestry)21 and the MONN study (12,024 cases; 67,845 controls; East Asian ancestry)29, which together identified 27 loci associated with GDM." . _:1ba02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of more than 100,000 Chinese pregnant women who had non-invasive prenatal testing at Longgang District Maternity and Child Healthcare Hospital and Shenzhen Baoan Women's and Children's Hospital in Shenzhen, China, whose low-depth NIPT sequencing data are linked to laboratory and electronic medical records to study the genetics of pregnancy traits and complications."; "PMID:38064665", "PMID:38372780", "PMID:40325049"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ba12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 121556; "pregnancy participants recruited at the Baoan and Longgang hospitals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12053562/fullTextXML"; rdfs:comment "We recruited 121,556 pregnancy participants from Shenzhen Baoan Women’s and Children’s Hospital (referred to as Baoan) and Longgang District Maternity and Child Healthcare Hospital of Shenzhen City (referred to as Longgang)." . _:1ba22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONN"; . _:1ba32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SZ-MONN-NIPT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7252; , , , , ; ; "GCST90449045"; "A series of clinically and neuropathologically characterised brain donors with Alzheimer disease and cognitively normal elderly controls, assembled by the Translational Genomics Research Institute (Phoenix, United States) from NIA-supported Alzheimer's Disease Center brain banks, the Miami Brain Bank and brain banks in the United Kingdom and the Netherlands, and genotyped for genome-wide association studies of late-onset Alzheimer disease within the Alzheimer's Disease Genetics Consortium."; 668; 365; "TGEN", "TGEN2", "TGen series", "Translational Genomics Research Institute"; ; rdfs:label "Translational Genomics Research Institute series 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7252 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ba42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7252; "Alzheimer's disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "TGEN2: Among the TGEN2 data analyzed were 668 clinically- and neuropathologically- characterizedbraindonors,and365CNEswithoutdementiaorsignificantAlzheimer’sdisease 17 pathology." . _:1ba52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4154667/fullTextXML"; rdfs:comment "The TGen series was also funded by NIA grant AG041232, the Banner Alzheimer's Foundation, The Johnnie B. Byrd Sr. Alzheimer's Institute, the Medical Research Council, and the state of Arizona and also includes samples from the following sites: Newcastle Brain Tissue Resource (funding via the Medical Research Council, local NHS trusts and Newcastle University), MRC London Brain Bank for Neurodegenerative Diseases (funding via the Medical Research Council), South West Dementia Brain Bank (funding via numerous sources including the Higher Education Funding Council for England (HEFCE), Alzheimer's Research Trust (ART), BRACE as well as North Bristol NHS Trust Research and Innovation Department and DeNDRoN), The Netherlands Brain Bank" . _:1ba62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449045"; "X-chromosome-wide association study for Alzheimer's disease."; "PMID:39633006", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/fullTextXML"; rdfs:comment "The sex-stratified models were adjusted on PCs and/or the genotyping center only, except for two ADGC studies (PFIZER and TGEN2) and the CHARGE studies (FHS, RS and CHS), where models were additionally adjusted on age (Supplementary Table S6 and Supplementary Material)." . _:1ba72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A series of clinically and neuropathologically characterised brain donors with Alzheimer disease and cognitively normal elderly controls, assembled by the Translational Genomics Research Institute (Phoenix, United States) from NIA-supported Alzheimer's Disease Center brain banks, the Miami Brain Bank and brain banks in the United Kingdom and the Netherlands, and genotyped for genome-wide association studies of late-onset Alzheimer disease within the Alzheimer's Disease Genetics Consortium."; "PMID:39633006"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ba82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 668; "analysed subset: neuropathologically characterised brain donors and cognitively normal elderly (CNEs) in an ADGC analysis (no stated total)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "TGEN2: Among the TGEN2 data analyzed were 668 clinically- and neuropathologically- characterizedbraindonors,and365CNEswithoutdementiaorsignificantAlzheimer’sdisease" . _:1ba92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 365; "analysed subset: neuropathologically characterised brain donors and cognitively normal elderly (CNEs) in an ADGC analysis (no stated total)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "TGEN2: Among the TGEN2 data analyzed were 668 clinically- and neuropathologically- characterizedbraindonors,and365CNEswithoutdementiaorsignificantAlzheimer’sdisease" . _:1baa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGEN"; . _:1bab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGEN2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7261; , , ; ; "GCST90243964"; "A lung cancer genetic epidemiology consortium, one of the NIH-funded GAME-ON post-GWAS consortia and working with the International Lung Cancer Consortium, that integrates genome-wide data from multiple lung cancer studies of European populations to identify lung cancer susceptibility loci."; 29266; 56450; "TRICL", "Transdisciplinary Research In Cancer of the Lung", "Transdisciplinary Research In Cancer of the Lung (TRICL) Research Team", "Transdisciplinary Research on Cancer of the Lung Consortium"; ; rdfs:label "Transdisciplinary Research in Cancer of the Lung"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7261 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7261; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9360465/fullTextXML"; rdfs:comment "Adjusted statistics from the UK Biobank GWAx and a previous LC GWAS (Transdisciplinary Research In Cancer of the Lung) cohort—29 266 patients and 56 450 controls—(Supplementary Materials, available online) were meta-analyzed using METASOFT under a fixed-effects assumption based on the inverse-variance-weighted effect size (16)." . _:1bad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5429754/fullTextXML"; rdfs:comment "The present study first used genotyping data from the TRICL-ILCCO consortium, which included 12,160 lung cancer cases and 16,838 controls (all Europeans) of six previously published GWAS studies: The University of Texas MD Anderson Cancer Center (MDACC), Institute of Cancer Research (ICR), National Cancer Institute (NCI), International Agency for Research on Cancer (IARC), Toronto study from Samuel Lunenfeld Research Institute study (Toronto), and German Lung Cancer Study (GLC)." . _:1bae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5050097/"; rdfs:comment "The association study with lung cancer risk was conducted using the GWAS data assembled by the TRICL consortium. The overall study design and methods for TRICL have been described in detail elsewhere for most studies (17). The meta-analysis was based on summary data from 19 GWAS undertaken by eight analytic centers providing genotype data on 13,479 patients with lung cancer and 43,218 controls of European descent: the MD Anderson Cancer Center lung cancer study (24); the NCI lung cancer GWAS including the Environment and Genetics in Lung Cancer Etiology (EAGLE) study (25) and the Prostate, Lung, Colon, Ovary Screening Trial (PLCO) (26); the IARC lung cancer GWAS (5) including Central Europe GWAS (27); the Carotene and Retinol Efficacy Trial (CARET) cohort lung cancer GWAS (28); the HUNT2/Tromso 4 study (29); several lung cancer GWAS studies from Central Europe and France (30); the lung cancer study from Estonia (31);" . _:1baf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3607485"; rdfs:comment "Liverpool Lung Project 543 2501 Liverpool, UK Population-bases cases, UK Blood Service collections controls" . _:1bb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243964"; "Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden."; "PMID:35511172", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9360465/fullTextXML"; rdfs:comment "The family history GWAS (GWAx) on 48 843 self-reported family history LC patients and 195 387 controls from the UK Biobank (Supplementary Table 1, available online) identified 5 loci (5p15.33, 6p21.32, 12p13.33, 13q13.1, and 15q25.1) that had previously been discovered from the traditional GWAS previously performed on the Transdisciplinary Research In Cancer of the Lung cohort (Supplementary Table 2 and Supplementary Figure 1, available online)." . _:1bb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A lung cancer genetic epidemiology consortium, one of the NIH-funded GAME-ON post-GWAS consortia and working with the International Lung Cancer Consortium, that integrates genome-wide data from multiple lung cancer studies of European populations to identify lung cancer susceptibility loci."; "PMID:42152146"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 29266; "lung cancer cases and controls of European descent in the 2017 TRICL-ILCCO OncoArray aggregated GWAS (no stated overall total)"; "PMID:28604730"; rdfs:comment "Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis of lung cancer in 29,266 cases and 56,450 controls." . _:1bb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 56450; "lung cancer cases and controls of European descent in the 2017 TRICL-ILCCO OncoArray aggregated GWAS (no stated overall total)"; "PMID:28604730"; rdfs:comment "Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis of lung cancer in 29,266 cases and 56,450 controls." . _:1bb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRICL"; . a owl:NamedIndividual, ; , ; "GCST90709864"; "A nationally representative UK observational cohort of 18,827 children from 18,552 families, born at the turn of the century, followed through repeated sweeps of data collection from age 9 months onwards on health, development, cognitive ability, education and social and economic circumstances, with linkage to administrative health records."; "The acronym MCS also denotes HARMONISATION study (COHO:0001101); this term is UK Millennium Cohort Study."@en; 18827; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MCS"; "MCS", "Millennium Cohort Study", "UKMillennium"; , ; rdfs:label "UK Millennium Cohort Study"@en . _:1bb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709864"; "Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective."; "PMID:41075272", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12627943/fullTextXML"; rdfs:comment "Genotyping was performed on 200 ng of DNA using the Illumina Infinium global screening array-24 v1.0 in the Millennium cohort (606 434 SNPs) and using the Illumina Infinium global screening array-24 v3.0 in the Cleft Collective (645 027 SNPs)." . _:1bb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationally representative UK observational cohort of 18,827 children from 18,552 families, born at the turn of the century, followed through repeated sweeps of data collection from age 9 months onwards on health, development, cognitive ability, education and social and economic circumstances, with linkage to administrative health records."; "PMID:24550246"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18827; "children (in 18,552 families) recruited in the first sweep"; "PMID:24550246"; rdfs:comment "The MCS is nationally representative and 18 552 families (18 827 children) were recruited to the cohort in the first sweep." . _:1bb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCS"; . _:1bb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKMillennium"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7276; , ; ; "GCST90244175"; "A prospective cohort of patients with head and neck cancer treated with primary or postoperative radiotherapy, with or without chemotherapy, from 2007 to 2020 at the Department of Radiation Oncology of the University Medical Center Groningen, all enrolled in the UMCG head and neck cancer prospective data registration programme (NCT02435576), with prospective assessment of radiation-induced toxicity and patient-rated outcome measures."; 1429; "UMCG", "UMCG-HANS"; ; rdfs:label "University Medical Center Groningen Head and Neck cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7276 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7276; "head and neck cancer"; "https://ars.els-cdn.com/content/image/1-s2.0-S0167814022044863-mmc1.docx"; rdfs:comment "University Medical Center Groningen Head and Neck cancer Study (UMCG-HANS) cohort consisted of 1,429 HNC patients treated with primary or postoperative RT either or not combined with chemotherapy (CH-RT) from 2007 to 2020 at the department of Radiation Oncology of the UMCG." . _:1bbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT02435576"; rdfs:comment "\"\"\"facility\"\":\"\"University Medical Center Groningen\"\",\"\"status\"\":\"\"RECRUITING\"\",\"\"city\"\":\"\"Groningen\"\",\"\"zip\"\":\"\"9700RB\"\",\"\"country\"\":\"\"Netherlands\"\"\"" . _:1bbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244175"; "Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer."; "PMID:36191651", "https://ars.els-cdn.com/content/image/1-s2.0-S0167814022044863-mmc1.docx"; rdfs:comment "University Medical Center Groningen Head and Neck cancer Study (UMCG-HANS) cohort consisted of 1,429 HNC patients treated with primary or postoperative RT either or not combined with chemotherapy (CH-RT) from 2007 to 2020 at the department of Radiation Oncology of the UMCG." . _:1bbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of patients with head and neck cancer treated with primary or postoperative radiotherapy, with or without chemotherapy, from 2007 to 2020 at the Department of Radiation Oncology of the University Medical Center Groningen, all enrolled in the UMCG head and neck cancer prospective data registration programme (NCT02435576), with prospective assessment of radiation-induced toxicity and patient-rated outcome measures."; "PMID:36191651", "https://ars.els-cdn.com/content/image/1-s2.0-S0167814022044863-mmc1.docx"; "GPT-6 (OpenAI), 2026-09" . _:1bbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1429; "head and neck cancer patients treated with radiotherapy 2007-2020"; "https://ars.els-cdn.com/content/image/1-s2.0-S0167814022044863-mmc1.docx" . _:1bbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMCG"; . _:1bc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMCG-HANS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7284; , ; ; "GCST90449045"; "A cohort of Alzheimer disease patients, about a quarter of them autopsy-confirmed, and cognitively normal controls from the same area, recruited by the University of Pittsburgh Alzheimer's Disease Research Center in Pittsburgh, United States, and genotyped for genome-wide association studies of late-onset Alzheimer disease."; 1291; 938; 2229; "PITT ADRC", "PITT_ADRC", "Pitt ADRC", "Pittsburgh Alzheimer Disease Research Center", "UPITT", "University of Pittsburgh Alzheimer Disease Research Center", "University of Pittsburgh study"; ; rdfs:label "University of Pittsburgh Alzheimer's Disease Research Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7284 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7284; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22832961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this study, we have used a new GWAS data set from the University of Pittsburgh (1291 cases and 938 controls) to examine in detail the recently implicated nine new regions with Alzheimer's disease (AD) risk" . _:1bc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3365264/fullTextXML"; rdfs:comment "University of Pittsburgh Alzheimer's Disease Research Center, Pittsburgh, PA, USA" . _:1bc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449045"; "X-chromosome-wide association study for Alzheimer's disease."; "PMID:39633006", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/fullTextXML"; rdfs:comment "University of Pittsburgh Alzheimer’s Disease Research Center, Pittsburgh, PA USA" . _:1bc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Alzheimer disease patients, about a quarter of them autopsy-confirmed, and cognitively normal controls from the same area, recruited by the University of Pittsburgh Alzheimer's Disease Research Center in Pittsburgh, United States, and genotyped for genome-wide association studies of late-onset Alzheimer disease."; "PMID:22832961"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1291; "AD cases and controls in the Pittsburgh ADRC GWAS dataset after quality control (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3365264/fullTextXML"; rdfs:comment "After standard quality control filters for both genotypes and samples and imputing for unobserved genotypes, a total of ∼2.5 million SNPs were examined in 2229 subjects (1291 cases and 938 controls) for association analysis." . _:1bc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 938; "AD cases and controls in the Pittsburgh ADRC GWAS dataset after quality control (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3365264/fullTextXML"; rdfs:comment "After standard quality control filters for both genotypes and samples and imputing for unobserved genotypes, a total of ∼2.5 million SNPs were examined in 2229 subjects (1291 cases and 938 controls) for association analysis." . _:1bc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2229; "AD cases and controls in the Pittsburgh ADRC GWAS dataset after quality control (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3365264/fullTextXML"; rdfs:comment "After standard quality control filters for both genotypes and samples and imputing for unobserved genotypes, a total of ∼2.5 million SNPs were examined in 2229 subjects (1291 cases and 938 controls) for association analysis." . _:1bc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PITT ADRC"; . _:1bc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PITT_ADRC"; . _:1bca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pitt ADRC"; . _:1bcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPITT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7296, _:genid-371333f489424440b12a13b9d98ced822608-genid7298; , ; "GCST90454419"; "A case-control longitudinal study of vascular health and brain aging launched in 2012 at Vanderbilt University Medical Center in Nashville, Tennessee, USA, which enrolled 335 adults aged 60–92 with mild cognitive impairment or normal cognition from 2012 to 2014 for repeated clinical, cardiac, brain imaging and CSF assessments."; 168; 167; 335; "VMAP", "Vanderbilt Memory and Aging Project"; ; rdfs:label "Vanderbilt Memory & Aging Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7296 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7298 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7296; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26967211+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From September 2012 to November 2014, 335 participants age 60- 92 were enrolled, including 168 individuals with mild cognitive impairment (MCI, 73±8 years, 41% female) and 167 age-, sex-, and race-matched cognitively normal controls (NC, 72±7 years, 41% female)." . _:1bcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7298; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26967211+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From September 2012 to November 2014, 335 participants age 60- 92 were enrolled, including 168 individuals with mild cognitive impairment (MCI, 73±8 years, 41% female) and 167 age-, sex-, and race-matched cognitively normal controls (NC, 72±7 years, 41% female)." . _:1bce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4866875/unicode"; rdfs:comment "The Vanderbilt Memory & Aging Project is a case-control longitudinal study investigating vascular health and brain aging launched in September 2012 at Vanderbilt University Medical Center in Nashville, TN." . _:1bcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454419"; "Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer's disease."; "PMID:38172904", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10763080/fullTextXML"; rdfs:comment "The Vanderbilt Memory and Aging Project (VMAP), established in 2012, is a longitudinal study investigating vascular health and brain aging." . _:1bd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control longitudinal study of vascular health and brain aging launched in 2012 at Vanderbilt University Medical Center in Nashville, Tennessee, USA, which enrolled 335 adults aged 60–92 with mild cognitive impairment or normal cognition from 2012 to 2014 for repeated clinical, cardiac, brain imaging and CSF assessments."; "PMID:26967211"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 168; "participants aged 60-92 enrolled 2012-2014 (MCI cases and cognitively normal controls)"; "PMID:26967211"; rdfs:comment "From September 2012 to November 2014, 335 participants age 60- 92 were enrolled, including 168 individuals with mild cognitive impairment (MCI, 73±8 years, 41% female) and 167 age-, sex-, and race-matched cognitively normal controls (NC, 72±7 years, 41% female)." . _:1bd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 167; "participants aged 60-92 enrolled 2012-2014 (MCI cases and cognitively normal controls)"; "PMID:26967211"; rdfs:comment "From September 2012 to November 2014, 335 participants age 60- 92 were enrolled, including 168 individuals with mild cognitive impairment (MCI, 73±8 years, 41% female) and 167 age-, sex-, and race-matched cognitively normal controls (NC, 72±7 years, 41% female)." . _:1bd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 335; "participants aged 60-92 enrolled 2012-2014 (MCI cases and cognitively normal controls)"; "PMID:26967211"; rdfs:comment "From September 2012 to November 2014, 335 participants age 60- 92 were enrolled, including 168 individuals with mild cognitive impairment (MCI, 73±8 years, 41% female) and 167 age-, sex-, and race-matched cognitively normal controls (NC, 72±7 years, 41% female)." . _:1bd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VMAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7307, _:genid-371333f489424440b12a13b9d98ced822608-genid7309; , , , ; "GCST90897930"; "A cohort of patients with sickle cell disease enrolled at ten centres in the United States and the United Kingdom and screened by echocardiography and laboratory tests for pulmonary hypertension to assess eligibility for a randomised clinical trial of sildenafil."; 720; "Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment", "Walk-PHaSST", "Walk-Treatment of Pulmonary Hypertension and SCD with Sildenafil Therapy", "walk_PHaSST"; ; rdfs:label "Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7307 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7309 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7307; "pulmonary hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7416942/fullTextXML"; rdfs:comment "The Walk-PHaSST study was designed to assemble a large cohort of patients with SCD and to screen their eligibility for a randomized clinical trial of sildenafil via echocardiographic and laboratory screening for pulmonary hypertension." . _:1bd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7309; "sickle cell disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7416942/fullTextXML"; rdfs:comment "The Walk-PHaSST study was designed to assemble a large cohort of patients with SCD and to screen their eligibility for a randomized clinical trial of sildenafil via echocardiographic and laboratory screening for pulmonary hypertension." . _:1bd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10469559/fullTextXML"; rdfs:comment "Walk-PHaSST participants were enrolled from 10 centers in the United States and United Kingdom during the screening phase of a trial of sildenafil." . _:1bd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "Cooperative Study of Sickle Cell Disease (CSSCD: n = 841), Multicenter Study of Hydroxyurea (MSH: n = 178), Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study (n = 73), Comprehensive Sickle Cell Centers Collaborative Data (C-data) project (n = 127), Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment (Walk-PHaSST) trial (n = 181), Duke University Outcome Modifying Genes study (n = 152), and Silent Infarct Transfusion (SIT) trial (SITT: n = 488)." . _:1bd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with sickle cell disease enrolled at ten centres in the United States and the United Kingdom and screened by echocardiography and laboratory tests for pulmonary hypertension to assess eligibility for a randomised clinical trial of sildenafil."; "PMID:32776978"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 720; "subjects with sickle cell disease screened (74 of them randomised)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3148167/"; rdfs:comment "Of the 720 subjects who were screened, 74 were randomized to receive placebo (n = 37) or sildenafil (n = 37; Figure 1 ) before the study was prematurely stopped." . _:1bdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Walk-PHaSST"; . _:1bdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "walk_PHaSST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7317, _:genid-371333f489424440b12a13b9d98ced822608-genid7319; , ; "GCST90662913"; "A population-based cohort of people with diabetes receiving primary care in an 11-county area of southern Wisconsin, United States, in 1979–1980, followed for decades to study the incidence and progression of diabetic retinopathy and other diabetes complications."; 2366; "WESDR"; ; rdfs:label "Wisconsin Epidemiologic Study of Diabetic Retinopathy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7317; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898749/fullTextXML"; rdfs:comment "In brief, 10,135 patients with diabetes who were receiving primary care in an 11-county area in southern Wisconsin during 1979–1980 were classified as “older” and “younger” onset." . _:1bde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7319; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898749/fullTextXML"; rdfs:comment "In brief, 10,135 patients with diabetes who were receiving primary care in an 11-county area in southern Wisconsin during 1979–1980 were classified as “older” and “younger” onset." . _:1bdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898749/fullTextXML"; rdfs:comment "In brief, 10,135 patients with diabetes who were receiving primary care in an 11-county area in southern Wisconsin during 1979–1980 were classified as “older” and “younger” onset." . _:1be02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90662913"; "Genetics of C-Peptide and Age at Diagnosis in Type 1 Diabetes."; "PMID:39556808", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11755686/fullTextXML"; rdfs:comment "We performed a meta-GWAS of C-peptide that including four T1D studies: the Scottish Diabetes Research Network Type 1 Bioresource (SDRNT1BIO) (4,16), Diabetes Control and Complications Trial (DCCT) (17,18), Coronary Artery Calcification in T1D (CACTI) (19,20), and Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR) (21)." . _:1be12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of people with diabetes receiving primary care in an 11-county area of southern Wisconsin, United States, in 1979–1980, followed for decades to study the incidence and progression of diabetic retinopathy and other diabetes complications."; "PMID:24026564"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1be22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2366; "people with diabetes examined at baseline 1980-82 (younger-onset and older-onset), 1982"; "PMID:9422925"; rdfs:comment "In an 11 county area in southern Wisconsin, a cohort of people with diabetes mellitus was identified and characterised by history, physical examination, fundus photographs, and laboratory evaluation in 1980-2 (n = 2366)." . _:1be32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WESDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7326; , ; ; "GCST90448709"; "A prospective, population-based study of aging and dementia in Medicare-eligible adults aged 65 and over living in the Washington Heights and Inwood neighborhoods of northern Manhattan, New York, first recruited in 1992 by random sampling and extended in later recruitment waves."; 5900; "WHICAP", "Washington Heights Columbia Aging Project", "Washington Heights-Inwood Community Aging Project", "Washington Heights–Inwood Columbia Aging Project", "Washington Heights–Inwood Columbia Aging Project Study"; ; rdfs:label "Washington Heights-Inwood Columbia Aging Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7326 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1be42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7326; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10727334/fullTextXML"; rdfs:comment "The WHICAP (Washington Heights–Inwood Columbia Aging Project) study is a prospective, population‐based study of aging and dementia." . _:1be52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10727334/fullTextXML"; rdfs:comment "Established through several recruitment waves, participants were first recruited in 1992 from a random sample of Medicare‐eligible adults (aged ≥65 years) residing in the neighborhoods of Washington Heights and Inwood in northern Manhattan." . _:1be62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448709"; "Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome-Wide Association Study."; "PMID:38038215", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10727334/fullTextXML"; rdfs:comment "The WHICAP (Washington Heights–Inwood Columbia Aging Project) study is a prospective, population‐based study of aging and dementia." . _:1be72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, population-based study of aging and dementia in Medicare-eligible adults aged 65 and over living in the Washington Heights and Inwood neighborhoods of northern Manhattan, New York, first recruited in 1992 by random sampling and extended in later recruitment waves."; "PMID:38038215"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1be82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5900; "residents over 65 followed since enrolment began (stated as more than 5,900)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01024-z/MediaObjects/41588_2022_1024_MOESM1_ESM.pdf"; rdfs:comment "Beginning enrolment in 1989, WHICAP has followed more than 5,900 residents over 65 years of age, including white, African American, and Hispanic participants." . _:1be92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHICAP"; . a owl:NamedIndividual, ; , , ; , ; "GCST90011781"; "A collection of DNA samples and lymphoblastoid cell lines from Han Chinese individuals in Beijing, China, that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; "The acronym ASN also denotes Japanese in Tokyo, Japan (COHO:0000809); this term is Han Chinese in Beijing, China."@en, "The acronym CHB also denotes Copenhagen Hospital Biobank (COHO:0000046); this term is Han Chinese in Beijing, China."@en; 84; "ASN", "CHB", "HapMap CHB"; ; rdfs:label "Han Chinese in Beijing, China"@en . _:1bea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "Han Chinese in Beijing, China (CHB);" . _:1beb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3042601/unicode"; rdfs:comment "Low coverage project: whole genome shotgun sequencing at low coverage (2-6x) of 59 unrelated individuals from YRI, 60 unrelated individuals from CEU, 30 unrelated Han Chinese individuals in Beijing (CHB) and 30 unrelated Japanese individuals in Tokyo (JPT)." . _:1bec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "Han Chinese in Beijing, China (CHB);" . _:1bed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011781"; "Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations."; "PMID:33575800", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8248963/"; rdfs:comment "The LCLs were derived from individuals from the Yoruba population in Ibadan, Nigeria (YRI), individuals with European ancestries from Utah, USA (CEU) and individuals from a combined population of Han Chinese from Beijing, China, and Japanese from Tokyo, Japan (ASN)." . _:1bee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples and lymphoblastoid cell lines from Han Chinese individuals in Beijing, China, that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; "PMID:20811451"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 84; "unrelated Han Chinese samples passing QC in HapMap 3 (2010)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09298/MediaObjects/41586_2010_BFnature09298_MOESM258_ESM.pdf"; rdfs:comment "CHB Unrelated 84 168 1,662,767 1,332,120 90 / 90" . _:1bf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASN"; . _:1bf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHB"; . a owl:NamedIndividual, ; , , ; , ; "GCST90011781"; "A collection of DNA samples and lymphoblastoid cell lines from Japanese individuals in Tokyo, Japan, that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; "The acronym ASN also denotes Han Chinese in Beijing, China (COHO:0000808); this term is Japanese in Tokyo, Japan."@en; 86; "ASN", "HapMap JPT", "JPT"; ; rdfs:label "Japanese in Tokyo, Japan"@en . _:1bf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "Japanese in Tokyo, Japan (JPT); and Yoruba in Ibadan, Nigeria (YRI)." . _:1bf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3042601/unicode"; rdfs:comment "Low coverage project: whole genome shotgun sequencing at low coverage (2-6x) of 59 unrelated individuals from YRI, 60 unrelated individuals from CEU, 30 unrelated Han Chinese individuals in Beijing (CHB) and 30 unrelated Japanese individuals in Tokyo (JPT)." . _:1bf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3173859/unicode"; rdfs:comment "Japanese in Tokyo, Japan (JPT); and Yoruba in Ibadan, Nigeria (YRI)." . _:1bf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011781"; "Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations."; "PMID:33575800", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8248963/"; rdfs:comment "The LCLs were derived from individuals from the Yoruba population in Ibadan, Nigeria (YRI), individuals with European ancestries from Utah, USA (CEU) and individuals from a combined population of Han Chinese from Beijing, China, and Japanese from Tokyo, Japan (ASN)." . _:1bf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples and lymphoblastoid cell lines from Japanese individuals in Tokyo, Japan, that forms one of the four founding population samples of the International HapMap Project and is used as a reference for human genetic variation."; "PMID:20811451"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 86; "unrelated Japanese samples passing QC in HapMap 3 (2010)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09298/MediaObjects/41586_2010_BFnature09298_MOESM258_ESM.pdf"; rdfs:comment "JPT Unrelated 86 172 1,663,087 1,300,764 91 / 91" . _:1bf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASN"; . _:1bf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JPT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7349; , ; ; "GCST90012825", "PGS000767"; "A longitudinal, epidemiologic clinical-pathologic cohort study of common chronic conditions of ageing run by the Rush Alzheimer's Disease Center, which since 1997 has enrolled older lay persons without dementia, mainly from retirement communities across northeastern Illinois, who agree to annual clinical evaluations and organ donation, with an emphasis on decline in cognitive and motor function and risk of Alzheimer's disease."; 1556; "MAP", "Memory and Aging Project", "RUSHMAP", "Rush MAP", "Rush University Medical Center - Memory and Aging Project", "Rush University Medical Centre- Memory and Aging Project"; , ; rdfs:label "Rush Memory and Aging Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7349 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1bfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7349; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22471867+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Memory and Aging Project is a longitudinal, epidemiologic clinical-pathologic cohort study of common chronic conditions of aging with an emphasis on decline in cognitive and motor function and risk of Alzheimer's disease (AD)." . _:1bfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6380522/unicode"; rdfs:comment "MAP started in 1997 and enrolls lay persons from across northeastern Illinois." . _:1bfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90012825"; "Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies."; "PMID:28322283", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5608624/unicode"; rdfs:comment "The subjects consisted of participants from two longitudinal cohort studies operated out of The Rush Alzheimer’s Disease Center in Chicago, the Religious Order Study (ROS) and the Rush Memory and Aging Project (MAP)." . _:1bfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000767"; "Depression genetic risk score is associated with anhedonia-related markers across units of analysis."; "PMID:31537779" . _:1bfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal, epidemiologic clinical-pathologic cohort study of common chronic conditions of ageing run by the Rush Alzheimer's Disease Center, which since 1997 has enrolled older lay persons without dementia, mainly from retirement communities across northeastern Illinois, who agree to annual clinical evaluations and organ donation, with an emphasis on decline in cognitive and motor function and risk of Alzheimer's disease."; "PMID:22471867"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1bff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1556; "persons who agreed to participate, 1997-2011"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3439198/unicode"; rdfs:comment "From November September of 1997 through November of 2011, 1,556 persons agreed to participate and the baseline clinical evaluation has been completed on 1,489." . _:1c002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAP"; . _:1c012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RUSHMAP"; . a owl:NamedIndividual, ; "GCST90566696"; "A consortium founded in 2011 of medical researchers and social scientists that coordinates genome-wide association studies of social-science outcomes such as educational attainment across more than 100 contributing cohorts and promotes harmonised phenotype measurement."; 3037499; "SSGAC"; ; rdfs:label "Social Science Genetic Association Consortium"@en . _:1c022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90566696"; "Deciphering the influence of socioeconomic status on brain structure: insights from Mendelian randomization."; "PMID:40360725", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12436186/fullTextXML"; rdfs:comment "Data provided by the Social Science Genetic Association Consortium (SSGAC) was used to add power to the gSES as well acting as a replication sample for educational attainment and household income and for use in Multivariable Mendelian Randomisation (MVMR)." . _:1c032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium founded in 2011 of medical researchers and social scientists that coordinates genome-wide association studies of social-science outcomes such as educational attainment across more than 100 contributing cohorts and promotes harmonised phenotype measurement."; "https://www.thessgac.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3037499; "individuals in the 2022 educational attainment (EA4) GWAS meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9005349/"; rdfs:comment "Here we report and analyze results from an updated meta-analysis of EA in a combined sample nearly three times larger ( N = 3,037,499)." . _:1c052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SSGAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7362, _:genid-371333f489424440b12a13b9d98ced822608-genid7364; , ; , ; ; "GCST90026612"; "A population-based longitudinal study of adults aged 65 and over recruited in three French cities, Bordeaux, Dijon and Montpellier, and followed from 1999 to 2012 with repeated examinations of vascular risk factors, cognition and subclinical vascular disease to study the relation between vascular diseases and dementia."; 9294; "3C", "3C Study", "French controls", "Three City Study", "Three-City (3C) Study"; ; rdfs:label "Three-City Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7362 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7364 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7362; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "The Three-City Study (3C Study) is a population-based longitudinal study of the relation between vascular diseases and dementia in persons aged 65 years and older51." . _:1c072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7364; "vascular diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "The Three-City Study (3C Study) is a population-based longitudinal study of the relation between vascular diseases and dementia in persons aged 65 years and older51." . _:1c082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "Participants were recruited from three French cities: Bordeaux (South-West), Dijon (North-East) and Montpellier (South-East)." . _:1c092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026612"; "Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases."; "PMID:34654805", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "The Three-City Study (3C Study) is a population-based longitudinal study of the relation between vascular diseases and dementia in persons aged 65 years and older51." . _:1c0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal study of adults aged 65 and over recruited in three French cities, Bordeaux, Dijon and Montpellier, and followed from 1999 to 2012 with repeated examinations of vascular risk factors, cognition and subclinical vascular disease to study the relation between vascular diseases and dementia."; "PMID:34654805"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9294; "participants recruited in Bordeaux, Dijon and Montpellier"; "https://www.three-city-study.com/the-three-city-study.php"; rdfs:comment "A total of 9,294 participants (3,649 men and 5,645 women) were recruited from three French cities: Bordeaux (South-West), Dijon (North-East) and Montpellier (South-East)." . _:1c0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3C"; . _:1c0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "French controls"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7372; , ; ; "GCST90504004", "PGS000734"; "A case-control study of sporadic colorectal cancer in the Pays de la Loire region of France, which recruited about 1,000 patients diagnosed at age 40 or over in regional hospitals and clinics and about 1,100 age- and sex-matched controls at regional health examination centres in 2002–2006, to study genetic susceptibility to colorectal cancer."; 1023; 1121; 2144; "ASTERISK", "Association Study Evaluating Risk for Sporadic Colorectal Cancer", "FRENCH", "French Association STudy Evaluating RISK for sporadic colorectal cancer", "French Association Study Evaluating RISK for sporadic colorectal cancer", "French Case-Control Study"; , ; rdfs:label "Association STudy Evaluating RISK for sporadic colorectal cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7372 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7372; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2585099/fullTextXML"; rdfs:comment "In short, all cases were patients recruited in regional hospitals and clinics, with a personal history of colorectal cancer diagnosed at an age of ≥ 40 years old." . _:1c0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2585099/fullTextXML"; rdfs:comment "From December 2002 to March 2006, two groups of 1023 patients (632 males and 391 females; mean ± SD age at diagnosis 65.7 ± 10.1 years) and 1121 controls (609 males and 512 females; mean ± SD age at inclusion 61.9 ± 10. years), all of Caucasian origin, were recruited within the Pays de la Loire region of France." . _:1c102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "ASTERISK: We are very grateful to those without whom this project would not have existed." . _:1c112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:1c122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of sporadic colorectal cancer in the Pays de la Loire region of France, which recruited about 1,000 patients diagnosed at age 40 or over in regional hospitals and clinics and about 1,100 age- and sex-matched controls at regional health examination centres in 2002–2006, to study genetic susceptibility to colorectal cancer."; "PMID:18992148"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1023; "sporadic colorectal cancer patients and controls recruited 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2585099/fullTextXML"; rdfs:comment "From December 2002 to March 2006, two groups of 1023 patients (632 males and 391 females; mean ± SD age at diagnosis 65.7 ± 10.1 years) and 1121 controls (609 males and 512 females; mean ± SD age at inclusion 61.9 ± 10. years), all of Caucasian origin, were recruited within the Pays de la Loire region of France." . _:1c142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1121; "sporadic colorectal cancer patients and controls recruited 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2585099/fullTextXML"; rdfs:comment "From December 2002 to March 2006, two groups of 1023 patients (632 males and 391 females; mean ± SD age at diagnosis 65.7 ± 10.1 years) and 1121 controls (609 males and 512 females; mean ± SD age at inclusion 61.9 ± 10. years), all of Caucasian origin, were recruited within the Pays de la Loire region of France." . _:1c152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2144; "sporadic colorectal cancer patients and controls recruited 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2585099/fullTextXML"; rdfs:comment "From December 2002 to March 2006, two groups of 1023 patients (632 males and 391 females; mean ± SD age at diagnosis 65.7 ± 10.1 years) and 1121 controls (609 males and 512 females; mean ± SD age at inclusion 61.9 ± 10. years), all of Caucasian origin, were recruited within the Pays de la Loire region of France." . _:1c162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASTERISK"; . _:1c172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRENCH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7383; , ; "GCST90104462"; "A collection of unrelated children and adolescents referred by local schools for assessment of reading difficulties at the Aston Dyslexia and Developmental Assessment Unit in Birmingham, UK, and invited to take part in research, genotyped for genetic studies of dyslexia and reading- and language-related skills."; 105; "ASTON", "Aston Dyslexia cohort", "Aston cohort", "The Aston Cohort"; ; rdfs:label "Aston Dyslexia Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7383 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7383; "dyslexia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5538127/fullTextXML"; rdfs:comment "Children attending this educational clinic have been referred for assessments of reading difficulties by local schools." . _:1c192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5538127/fullTextXML"; rdfs:comment "The Aston Dyslexia cohort includes 105 unrelated individuals, recruited through the Aston Dyslexia and Developmental Assessment Unit in Birmingham, UK (age range 7–16 years)." . _:1c1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Aston Cohort was supported by funding from European Union (EU) Horizon 2020 Programme 641652 and Waterloo Foundation Grant 797/17290." . _:1c1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of unrelated children and adolescents referred by local schools for assessment of reading difficulties at the Aston Dyslexia and Developmental Assessment Unit in Birmingham, UK, and invited to take part in research, genotyped for genetic studies of dyslexia and reading- and language-related skills."; "PMID:28742079"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 105; "unrelated children and adolescents aged 7-16 genotyped (2017)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5538127/fullTextXML"; rdfs:comment "The Aston Dyslexia cohort includes 105 unrelated individuals, recruited through the Aston Dyslexia and Developmental Assessment Unit in Birmingham, UK (age range 7–16 years)." . _:1c1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASTON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7390, _:genid-371333f489424440b12a13b9d98ced822608-genid7392, _:genid-371333f489424440b12a13b9d98ced822608-genid7394, _:genid-371333f489424440b12a13b9d98ced822608-genid7396; , ; , ; "GCST90296729"; "A hospital-based case-control study of bladder cancer among men resident in the province of Brescia, northern Italy, with newly diagnosed cases admitted to the urology departments of the two main Brescia hospitals in 1997–2000 and controls with non-neoplastic urological diseases, used to study occupational, environmental and genetic risk factors for bladder cancer."; "The acronym BBCS also denotes Baltimore Breast Cancer Study (COHO:0001288) and British Breast Cancer Study (COHO:0001510); this term is Brescia Bladder Cancer Study."@en; 201; 214; 415; "BBCS", "BBCS_b", "Brescia BC study", "Brescia Bladder Cancer Case–control Study"; ; rdfs:label "Brescia Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7390 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7392 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7394 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7396 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7390; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3983188/fullTextXML"; rdfs:comment "The cases were 201 newly diagnosed, histologically confirmed BC patients, admitted in the Urology Departments of the two main hospitals of Brescia from July 1997 to December 2000." . _:1c1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7392; "lifetime smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24722645+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were collected on lifetime smoking, coffee drinking, dietary habits and lifetime occupation, with particular reference to exposure to aromatic amines (AAs) and polycyclic aromatic hydrocarbons (PAHs)." . _:1c202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7394; "occupational exposure to aromatic amines (AAs)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24722645+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were collected on lifetime smoking, coffee drinking, dietary habits and lifetime occupation, with particular reference to exposure to aromatic amines (AAs) and polycyclic aromatic hydrocarbons (PAHs)." . _:1c212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7396; "occupational exposure to polycyclic aromatic hydrocarbons (PAHs)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24722645+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were collected on lifetime smoking, coffee drinking, dietary habits and lifetime occupation, with particular reference to exposure to aromatic amines (AAs) and polycyclic aromatic hydrocarbons (PAHs)." . _:1c222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3983188/fullTextXML"; rdfs:comment "The inclusion criteria were being male, aged between 20 and 80, resident in the Brescia province (Northern Italy)." . _:1c232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://ars.els-cdn.com/content/image/1-s2.0-S030228382302780X-mmc3.xlsx"; rdfs:comment "Brescia Bladder Cancer Study (BBCS)" . _:1c242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer among men resident in the province of Brescia, northern Italy, with newly diagnosed cases admitted to the urology departments of the two main Brescia hospitals in 1997–2000 and controls with non-neoplastic urological diseases, used to study occupational, environmental and genetic risk factors for bladder cancer."; "PMID:24722645"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 201; "male bladder cancer cases and urological controls enrolled 1997-2000"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3983188/fullTextXML"; rdfs:comment "In the present study, complete individual data were available for 199 (out of 201) cases and 213 (out of 214) controls, totaling 412 (instead of 415) subjects." . _:1c262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 214; "male bladder cancer cases and urological controls enrolled 1997-2000"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3983188/fullTextXML"; rdfs:comment "In the present study, complete individual data were available for 199 (out of 201) cases and 213 (out of 214) controls, totaling 412 (instead of 415) subjects." . _:1c272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 415; "male bladder cancer cases and urological controls enrolled 1997-2000"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3983188/fullTextXML"; rdfs:comment "In the present study, complete individual data were available for 199 (out of 201) cases and 213 (out of 214) controls, totaling 412 (instead of 415) subjects." . _:1c282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCS"; . _:1c292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7406, _:genid-371333f489424440b12a13b9d98ced822608-genid7408; , , ; ; "GCST90132185"; "A population-based study of 4439 adults aged 40 years or over living in Greater Beijing, China, first examined in 2001 and re-examined in 2006 and 2011 with detailed ophthalmic and general examinations, to measure the frequency of eye diseases and visual impairment and their associated and risk factors."; 4439; "BES", "Beijing Eye Study 2001", "Beijing Eye Study 2001/2011"; ; rdfs:label "Beijing Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7406 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7408 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7406; "visual impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19426355+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "frequency and causes of visual impairment, blindness and visual field defects, prevalences of trachoma, pterygia, open-angle glaucoma and angle-closure glaucoma, cortical, nuclear and posterior subcapsular cataract, age-related macular degeneration, retinal vein occlusions, diabetes mellitus and diabetic retinopathy, myelinated nerve fibres, and retinitis pigmentosa, and associated and risk factors." . _:1c2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7408; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19426355+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "frequency and causes of visual impairment, blindness and visual field defects, prevalences of trachoma, pterygia, open-angle glaucoma and angle-closure glaucoma, cortical, nuclear and posterior subcapsular cataract, age-related macular degeneration, retinal vein occlusions, diabetes mellitus and diabetic retinopathy, myelinated nerve fibres, and retinitis pigmentosa, and associated and risk factors." . _:1c2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25347072+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ObjectiveTo assess the cumulative 10-year incidence of diabetic retinopathy (DR) and its associated factors in a population living in Greater Beijing.MethodsThe population-based longitudinal Beijing Eye Study, which included 4439 subjects (age in 2001: 40+years) in 2001, was repeated in 2011 with 2695 subjects participating (66.4% of the survivors)." . _:1c2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132185"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM3_ESM.xlsx"; rdfs:comment "BES Beijing Eye Study" . _:1c2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of 4439 adults aged 40 years or over living in Greater Beijing, China, first examined in 2001 and re-examined in 2006 and 2011 with detailed ophthalmic and general examinations, to measure the frequency of eye diseases and visual impairment and their associated and risk factors."; "PMID:19426355", "PMID:25347072"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4439; "participants aged 40+ examined at baseline in 2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4210166/fullTextXML"; rdfs:comment "Out of 5324 eligible individuals, 4439 (83.4%) participated in the baseline study in 2001." . _:1c302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7415, _:genid-371333f489424440b12a13b9d98ced822608-genid7417; "GCST90624144"; "An ongoing longitudinal cohort of primarily middle-aged adults, all cognitively unimpaired at enrolment from the community, begun in 1995 in the National Institutes of Health intramural program and later continued at Johns Hopkins University, with repeated cognitive, clinical, CSF, blood and MRI assessments to study the earliest phases of Alzheimer's disease."; 349; "BIOCARD", "BIOCARD cohort", "BIOCARD study", "Biomarkers for Older Controls at Risk for Dementia"; ; rdfs:label "Biomarkers of Cognitive Decline Among Normal Individuals"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7415 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7417 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7415; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12857810/fullTextXML"; rdfs:comment "By design, approximately 75% of participants were recruited based on having a first-degree relative with dementia, primarily AD, to increase the likelihood of observing cognitive decline and biomarker changes over time." . _:1c322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7417; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12857810/fullTextXML"; rdfs:comment "By design, approximately 75% of participants were recruited based on having a first-degree relative with dementia, primarily AD, to increase the likelihood of observing cognitive decline and biomarker changes over time." . _:1c332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624144"; "Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease."; "PMID:40111762", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC12295682/unicode"; rdfs:comment "Data from participants were sourced from an array of cohort studies, including the Adult Changes in Thought (ACT) Study, the Alzheimer’s Disease Neuroimaging Initiative (ADNI), Biomarkers for Older Controls at Risk for Dementia (BIOCARD), the Baltimore Longitudinal Study of Aging (BLSA), the National Alzheimer’s Coordinating Center (NACC), the Religious Orders Study (ROS), the Rush Memory and Aging Project (MAP), the Minority Aging Research Study (MARS), the Washington University Memory & Aging Project (WASHU) and the Wisconsin Registry for Alzheimer’s Prevention (WRAP)." . _:1c342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing longitudinal cohort of primarily middle-aged adults, all cognitively unimpaired at enrolment from the community, begun in 1995 in the National Institutes of Health intramural program and later continued at Johns Hopkins University, with repeated cognitive, clinical, CSF, blood and MRI assessments to study the earliest phases of Alzheimer's disease."; "PMID:41604611"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 349; "cognitively normal participants enrolled at the NIH, 1995-2005"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9673459/fullTextXML"; rdfs:comment "Between 1995 and 2005, 349 cognitively normal, primarily middle‐aged ( M = 57.3 years, standard deviation = 10.4) participants were enrolled after providing written informed consent." . _:1c362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOCARD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7423; , ; "PGS000733", "PMID:22271044"; "A hospital-based case-control collection of urological cancers in France, run by the Centre de Recherche pour les Pathologies Prostatiques (CeRePP) at Hôpital Tenon, Paris, whose prostate cancer cases are patients with histologically confirmed prostate cancer treated in French urology departments and whose controls are men found unaffected in a systematic health screening programme, and which has also supplied pathologically confirmed bladder cancer and renal cell carcinoma cases to genome-wide association studies of those cancers."; "CeRePP", "CeRePP French Prostate Case-Control Study", "CerePP", "CerePP French Prostate Cancer Case-Control Study (ProGene)", "FPCC", "French Center for Research on Prostate Diseases", "French Prostate Case–Control Study", "ProGene"; ; rdfs:label "French Prostate Cancer Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7423; "prostate cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "CerePP French Prostate Cancer Case-Control Study (ProGene): Case-Control, Prospective, Observational, Hospital-based. Source of cases: Patients, treated in French departments of Urology, who had histologically confirmed prostate cancer." . _:1c382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "CerePP French Prostate Cancer Case-Control Study (ProGene): Case-Control, Prospective, Observational, Hospital-based. Source of cases: Patients, treated in French departments of Urology, who had histologically confirmed prostate cancer." . _:1c392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:1c3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22271044"; "Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry."; "PMID:22271044", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3374121/fullTextXML"; rdfs:comment "The case–control study was the French Prostate Case–Control Study (CeRePP, Centre de Recherche pour les Pathologies Prostatiques, from France) (Valeri et al. 2003)." . _:1c3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control collection of urological cancers in France, run by the Centre de Recherche pour les Pathologies Prostatiques (CeRePP) at Hôpital Tenon, Paris, whose prostate cancer cases are patients with histologically confirmed prostate cancer treated in French urology departments and whose controls are men found unaffected in a systematic health screening programme, and which has also supplied pathologically confirmed bladder cancer and renal cell carcinoma cases to genome-wide association studies of those cancers."; "PMID:22271044", "PMID:24163127", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms15724/MediaObjects/41467_2017_BFncomms15724_MOESM23_ESM.pdf", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:1c3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CeRePP"; . _:1c3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CerePP"; . _:1c3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FPCC"; . _:1c3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7433, _:genid-371333f489424440b12a13b9d98ced822608-genid7435, _:genid-371333f489424440b12a13b9d98ced822608-genid7437, _:genid-371333f489424440b12a13b9d98ced822608-genid7439, _:genid-371333f489424440b12a13b9d98ced822608-genid7441; , ; ; "GCST90797639"; "An unselected Danish mother-child birth cohort of 738 pregnant women from eastern Denmark recruited in 2008–2010 at week 24 of pregnancy and their 700 children, deeply phenotyped at the COPSAC clinic with nested randomised trials of vitamin D and fish oil in pregnancy, to study how perinatal exposures such as the microbiome and maternal nutrition interact with genetics in the development of asthma and other chronic inflammatory diseases."; 738; "COPSAC2010"; ; rdfs:label "Copenhagen Prospective Studies on Asthma in Childhood 2010"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7433 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7435 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7437 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7439 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7441 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7433; "maternal nutrition during pregnancy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24118234+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We hypothesize that perinatal exposures, in particular the human microbiome and maternal nutrition during pregnancy, interact with the genetic predisposition to cause an abnormal immune modulation in early life towards a trajectory to chronic inflammatory diseases such as asthma and others." . _:1c412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7435; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4158856/fullTextXML"; rdfs:comment "The aim of COPSAC is to understand the origins of chronic inflammatory diseases with a primary focus on asthma, eczema and allergy in young children and to translate this into improved disease prevention, diagnosis, and treatment" . _:1c422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7437; "eczema"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4158856/fullTextXML"; rdfs:comment "The aim of COPSAC is to understand the origins of chronic inflammatory diseases with a primary focus on asthma, eczema and allergy in young children and to translate this into improved disease prevention, diagnosis, and treatment" . _:1c432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7439; "allergy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4158856/fullTextXML"; rdfs:comment "The aim of COPSAC is to understand the origins of chronic inflammatory diseases with a primary focus on asthma, eczema and allergy in young children and to translate this into improved disease prevention, diagnosis, and treatment" . _:1c442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7441; "chronic inflammatory diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4158856/fullTextXML"; rdfs:comment "The aim of COPSAC is to understand the origins of chronic inflammatory diseases with a primary focus on asthma, eczema and allergy in young children and to translate this into improved disease prevention, diagnosis, and treatment" . _:1c452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24118234+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Pregnant women from eastern Denmark were invited during 2008-2010 to a novel unselected 'COPSAC2010 ' cohort." . _:1c462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "COPSAC 2010 Copenhagen Prospective Studies on Asthma in Childhood 2010" . _:1c472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An unselected Danish mother-child birth cohort of 738 pregnant women from eastern Denmark recruited in 2008–2010 at week 24 of pregnancy and their 700 children, deeply phenotyped at the COPSAC clinic with nested randomised trials of vitamin D and fish oil in pregnancy, to study how perinatal exposures such as the microbiome and maternal nutrition interact with genetics in the development of asthma and other chronic inflammatory diseases."; "PMID:24118234"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 738; "pregnant women recruited at week 24, 2008-2010 (700 of their children in the birth cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4158856/fullTextXML"; rdfs:comment "Seven hundred and thirty‐eight mothers were recruited from week 24 of gestation, and 700 of their children were included in the birth cohort." . _:1c492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPSAC2010"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7448, _:genid-371333f489424440b12a13b9d98ced822608-genid7450; , ; , ; "GCST90504004"; "A population-based prospective cohort of men born in 1918–1952 living in Västmanland and Örebro counties in central Sweden, established in 1997 and used, with the Swedish Mammography Cohort, to study diet, lifestyle and chronic disease."; 48850; "COSM"; ; rdfs:label "Cohort of Swedish Men"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7448 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7450 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7448; "lifestyle factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12335436/fullTextXML"; rdfs:comment "In late fall 1997, 48,850 men (49% response rate) and 39,227 women (70% response rate) completed a 96-item food frequency questionnaire (FFQ) and answered questions about lifestyle factors (the questionnaires are available: https://www.simpler4health.se/researchers/questionnaires/)." . _:1c4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7450; "food consumption (96-item food frequency questionnaire)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12335436/fullTextXML"; rdfs:comment "In late fall 1997, 48,850 men (49% response rate) and 39,227 women (70% response rate) completed a 96-item food frequency questionnaire (FFQ) and answered questions about lifestyle factors (the questionnaires are available: https://www.simpler4health.se/researchers/questionnaires/)." . _:1c4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12335436/fullTextXML"; rdfs:comment "The COSM was established in 1997 when all men born in 1918–1952 residing in central Swedish counties (Västmanland and Örebro) were invited to join the cohort." . _:1c4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90504004"; "Genome-wide interaction study of dietary intake of fibre, fruits, and vegetables with risk of colorectal cancer."; "PMID:38749303", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11112268/fullTextXML"; rdfs:comment "Swedish Mammography Cohort and Cohort of Swedish Men:" . _:1c4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of men born in 1918–1952 living in Västmanland and Örebro counties in central Sweden, established in 1997 and used, with the Swedish Mammography Cohort, to study diet, lifestyle and chronic disease."; "PMID:40783417"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 48850; "men who completed the baseline questionnaire in 1997"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12335436/fullTextXML"; rdfs:comment "In late fall 1997, 48,850 men (49% response rate) and 39,227 women (70% response rate) completed a 96-item food frequency questionnaire (FFQ) and answered questions about lifestyle factors" . _:1c502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COSM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7457; , ; ; "GCST90267392"; "A hospital-based case-control study of colorectal cancer in the Czech Republic, with cases and controls collected at oncology departments of several Czech hospitals from 2003 onwards, used to study genetic and lifestyle risk factors for colorectal cancer."; 718; 646; "CRCCS", "Czech CCS", "Czech Republic CCS"; ; rdfs:label "Czech Republic Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7457 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7457; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9268344/fullTextXML"; rdfs:comment "The Czech cohort comprised 718 CRC cases and 646 controls collected at several oncology departments in the Czech Republic between September 2003 and December 2016." . _:1c522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9268344/fullTextXML"; rdfs:comment "The Czech cohort comprised 718 CRC cases and 646 controls collected at several oncology departments in the Czech Republic between September 2003 and December 2016." . _:1c532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://ndownloader.figshare.com/files/59870008"; rdfs:comment "Czech Republic CCS" . _:1c542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of colorectal cancer in the Czech Republic, with cases and controls collected at oncology departments of several Czech hospitals from 2003 onwards, used to study genetic and lifestyle risk factors for colorectal cancer."; "PMID:35807897"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 718; "CRC cases and controls in the 2022 selenoprotein analysis (analysed subset), 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9268344/fullTextXML"; rdfs:comment "The Czech cohort comprised 718 CRC cases and 646 controls collected at several oncology departments in the Czech Republic between September 2003 and December 2016." . _:1c562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 646; "CRC cases and controls in the 2022 selenoprotein analysis (analysed subset), 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9268344/fullTextXML"; rdfs:comment "The Czech cohort comprised 718 CRC cases and 646 controls collected at several oncology departments in the Czech Republic between September 2003 and December 2016." . _:1c572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRCCS"; . _:1c582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Czech CCS"; . _:1c592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Czech Republic CCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7467; , ; "GCST90572747"; "A hospital-based study at Brest University Hospital, France, launched in 2000, that enrols consecutive patients with objectively confirmed venous thromboembolism (more than 5,000 so far), with matched hospital controls, to study genetic and environmental risk factors for venous thromboembolism and their interactions."; 5000; "EDITH", "EDITH case-control study", "EDITH study", "Etude des Déterminants/Interaction de la THrombose veineuse"; ; rdfs:label "Etude des Déterminants/Interaction de la Thrombose veineuse"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7467 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7467; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5959061/fullTextXML"; rdfs:comment "The observational EDITH case-control study was designed to assess interactions between genetic and environmental risk factors for VTE." . _:1c5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29775482+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The EDITH hospital-based case-control study enrolled 182 patients with cancer and VTE as well as 182 control patients with cancer, matched for gender, age and cancer location, between 2000 and 2012, in the University Hospital of Brest." . _:1c5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90572747"; "Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes."; "PMID:40811855", "https://www.medrxiv.org/content/early/2024/12/03/2024.12.02.24317788.source.xml"; rdfs:comment "The recurrent VT GWAS meta-analysis included eight studies with confirmed unrelated VT cases of European ancestry free of cancer history: EDITH, FHS, HVH (HVH1 and HVH23), MARTHA, MEGA, PADIS-PE and REVERSE-I (Supplementary Material)." . _:1c5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based study at Brest University Hospital, France, launched in 2000, that enrols consecutive patients with objectively confirmed venous thromboembolism (more than 5,000 so far), with matched hospital controls, to study genetic and environmental risk factors for venous thromboembolism and their interactions."; "PMID:29775482", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13240746/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5000; "patients with VTE enrolled since 2000 (lower bound: '>5000'; controls not counted)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13240746/fullTextXML"; rdfs:comment "Since its inception, it has enrolled >5000 patients with VTE." . _:1c5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDITH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7474; , , ; "GCST90551892"; "A cancer case-control study that enrolled 24,971 Black patients with incident, mostly histologically proven cancers of any type in Johannesburg, South Africa, between 1995 and 2016, collecting questionnaire data and serum and whole-blood samples and using patients with cancers unrelated to the exposure of interest as controls, to study lifestyle and infection (particularly HIV) risk factors for cancer; the ERICA-SA project uses its data and samples to study lifestyle, infection and genetic susceptibility to cancer."; "The acronym JCS also denotes Japanese Centenarian Study (COHO:0001942); this term is Johannesburg Cancer Study."@en; 24971; "ERICA-SA", "JCS"; ; rdfs:label "Johannesburg Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7474 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7474; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32169796+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 24 971 black patients with an incident histologically proven (>95%) cancer of any type were enrolled between 1995-2016." . _:1c612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32169796%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The Johannesburg Cancer Study (JCS) aims were to examine whether cancer risk factors identified in Western countries applied to black patients in Johannesburg, South Africa and to understand the impact of HIV on cancer risk, with a view to identifying previously unrecognised HIV associated cancers." . _:1c622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90551892"; "Genome-wide association study identifies common variants associated with breast cancer in South African Black women."; "PMID:40229280", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11997036/fullTextXML"; rdfs:comment "The JCS samples formed part of a larger study, Evolving Risk Factors for Cancer in African Populations (ERICA-SA)" . _:1c632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cancer case-control study that enrolled 24,971 Black patients with incident, mostly histologically proven cancers of any type in Johannesburg, South Africa, between 1995 and 2016, collecting questionnaire data and serum and whole-blood samples and using patients with cancers unrelated to the exposure of interest as controls, to study lifestyle and infection (particularly HIV) risk factors for cancer; the ERICA-SA project uses its data and samples to study lifestyle, infection and genetic susceptibility to cancer."; "PMID:32169796", "https://www.samrc.ac.za/intramural-research-units/evolving-risk-factors-cancers-african-populations-erica-sa"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 24971; "Black patients with incident cancer enrolled 1995-2016 (cases and cancer controls together)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32169796+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 24 971 black patients with an incident histologically proven (>95%) cancer of any type were enrolled between 1995-2016." . _:1c652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ERICA-SA"; . _:1c662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7482; , ; , ; "GCST90296729"; "A hospital-based case-control study of bladder cancer in France, whose cases were also genotyped for the NCI bladder cancer genome-wide association study."; "The acronym FBCS also denotes Familial Breast Cancer Study (COHO:0001718); this term is French Bladder Cancer Study."@en; 190; 316; "FBCS", "FrBCS", "French Bladder Study"; ; rdfs:label "French Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7482; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based NA" . _:1c682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2782435/unicode"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based" . _:1c692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://ars.els-cdn.com/content/image/1-s2.0-S030228382302780X-mmc3.xlsx"; rdfs:comment "French Bladder Cancer Study (FBCS)" . _:1c6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer in France, whose cases were also genotyped for the NCI bladder cancer genome-wide association study."; "PMID:19706757", "PMID:24163127"; "GPT-6 (OpenAI), 2026-09" . _:1c6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 190; "controls and cases contributed to the International Consortium of Bladder Cancer pooled analyses (analysed subset), 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based NA" . _:1c6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 316; "controls and cases contributed to the International Consortium of Bladder Cancer pooled analyses (analysed subset), 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based NA" . _:1c6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBCS"; . _:1c6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FrBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7491; , ; "GCST90296729"; "A National Cancer Institute Clinical Genetics Branch study (protocol 02-C-0178) that enrolls families with at least two cases of testicular germ cell tumour, identified through physician and self-referral, together with controls, to study the genetic and clinical features of familial testicular cancer."; "The acronym FTC also denotes Finnish Twin Cohort Study (COHO:0000070) and Older Finnish Twin Cohort (COHO:0001728); this term is NCI Familial Testicular Cancer Study."@en; 749; "FTC", "FTCS", "Familial Testicular Cancer Study", "National Cancer Institute (NCI) Familial Testicular Cancer Study"; ; rdfs:label "NCI Familial Testicular Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7491 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7491; "testicular germ cell tumor"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25882629+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To improve the phenotypic definition of familial TGCT (FTGCT), we studied an international cohort of multiple-case TGCT families to determine whether first-degree relatives of FTGCT cases are at increased risk of other types of cancer." . _:1c702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4529345/fullTextXML"; rdfs:comment "Norwegian and U.S. participants were identified through physician- and self-referral, and were enrolled in protocols approved by the ethical and Institutional Review Boards of the Norwegian Radium Hospital (Registration Number 2011/625) and the National Cancer Institute (NCI) Clinical Genetics Branch (NCI protocol 02-C-0178, NCT-00039598), respectively." . _:1c712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://ars.els-cdn.com/content/image/1-s2.0-S030228382302780X-mmc3.xlsx"; rdfs:comment "Familial Testicular Cancer Study (FTC)" . _:1c722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A National Cancer Institute Clinical Genetics Branch study (protocol 02-C-0178) that enrolls families with at least two cases of testicular germ cell tumour, identified through physician and self-referral, together with controls, to study the genetic and clinical features of familial testicular cancer."; "PMID:25882629"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 749; "participants (affected men and family members) actually enrolled in NCI protocol 02-C-0178"; "https://clinicaltrials.gov/api/v2/studies/NCT00039598"; rdfs:comment "\"enrollmentInfo\":{\"count\":749,\"type\":\"ACTUAL\"}" . _:1c742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTC"; . _:1c752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7499; "GCST90269797"; "A large international collaboration of research groups, funded by the European Union Seventh Framework Programme as a successor to GENOMOS, that brings together osteoporosis study populations with DNA and genome-wide association data to identify common genetic variants for osteoporosis and bone traits."; 32961; "GEFOS", "GEFOS consortium", "Genetic Factors for Osteoporosis Consortium"; ; rdfs:label "GEnetic Factors for OSteoporosis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7499 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7499; "osteoporosis"; "http://www.gefos.org/"; rdfs:comment "With the GEFOS project we here propose to capitalize on the success of GENOMOS by using the most advanced gene discovery tools that have become recently available, i.e., Genome Wide Association (GWA) analysis with high density SNP arrays, to identify common risk gene variants for osteoporosis." . _:1c772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269797"; "Candidate loci shared among periodontal disease, diabetes and bone density."; "PMID:36778599", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36778599+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "T2D from the DIAGRAM consortium (Neff=228825), and BMD from the GEFOS consortium (N=426824)." . _:1c782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A large international collaboration of research groups, funded by the European Union Seventh Framework Programme as a successor to GENOMOS, that brings together osteoporosis study populations with DNA and genome-wide association data to identify common genetic variants for osteoporosis and bone traits."; "http://www.gefos.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32961; "individuals in the discovery meta-analysis of 17 GWAS in the 2012 GEFOS BMD study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3338864/fullTextXML"; rdfs:comment "We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and East Asian ancestry." . _:1c7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEFOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7505, _:genid-371333f489424440b12a13b9d98ced822608-genid7507, _:genid-371333f489424440b12a13b9d98ced822608-genid7509, _:genid-371333f489424440b12a13b9d98ced822608-genid7511, _:genid-371333f489424440b12a13b9d98ced822608-genid7513, _:genid-371333f489424440b12a13b9d98ced822608-genid7515, _:genid-371333f489424440b12a13b9d98ced822608-genid7517, _:genid-371333f489424440b12a13b9d98ced822608-genid7519, _:genid-371333f489424440b12a13b9d98ced822608-genid7521, _:genid-371333f489424440b12a13b9d98ced822608-genid7523, _:genid-371333f489424440b12a13b9d98ced822608-genid7525, _:genid-371333f489424440b12a13b9d98ced822608-genid7527, _:genid-371333f489424440b12a13b9d98ced822608-genid7529, _:genid-371333f489424440b12a13b9d98ced822608-genid7531, _:genid-371333f489424440b12a13b9d98ced822608-genid7533; , , , , , , ; "GCST90302935"; "A European population-based exposome cohort built across six existing longitudinal birth cohorts in France, Greece, Lithuania, Norway, Spain and the UK, with a subcohort of 1,301 mother-child pairs in which biomarkers, omics signatures and child health outcomes were measured at age 6–11 years, to relate multiple early-life environmental exposures to molecular signatures and child health."; "The acronym HELIX also denotes Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (COHO:0000828); this term is Human Early Life Exposome."@en; 31472; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HELIX"; "HELIX", "HELIX subcohort", "Human Early Life Exposome study"; , ; rdfs:label "Human Early Life Exposome"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7505 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7507 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7509 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7511 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7513 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7515 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7517 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7519 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7521 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7523 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7525 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7527 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7529 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7531 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7533 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7505; "ultraviolet (UV) radiation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7507; "organochlorine compounds and brominated compounds"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7509; "meteorological variables"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7511; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7513; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7515; "environmental tobacco smoke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7517; "drinking water disinfection by-products"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7519; "ambient air pollutants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7521; "road traffic noise levels"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7523; "metals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7525; "cotinine"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7527; "organophosphate pesticide metabolites"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7529; "phthalate metabolites"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7531; "phenols"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7533; "perfluoroalkyl substances"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "The aim of the Human Early Life Exposome (HELIX) study was to measure and describe multiple environmental exposures during early life (pregnancy and childhood) in a prospective cohort and associate these exposures with molecular omics signatures and child health outcomes." . _:1c8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30206078+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIX study represents a collaborative project across six established and ongoing longitudinal population-based birth cohort studies in six European countries (France, Greece, Lithuania, Norway, Spain and the UK)." . _:1c8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90302935"; "Genome-Wide Association Study of Blood Mercury in European Pregnant Women and Children."; "PMID:38136945", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10742428/fullTextXML"; rdfs:comment "HELIX comprises subcohorts of mother–child pairs from six European birth cohorts [73,74]." . _:1c8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European population-based exposome cohort built across six existing longitudinal birth cohorts in France, Greece, Lithuania, Norway, Spain and the UK, with a subcohort of 1,301 mother-child pairs in which biomarkers, omics signatures and child health outcomes were measured at age 6–11 years, to relate multiple early-life environmental exposures to molecular signatures and child health."; "PMID:30206078"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 31472; "mother-child pairs in the entire HELIX study population across six birth cohorts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "HELIX used a multilevel study design with the entire study population totalling 31 472 mother-child pairs, recruited during pregnancy, in the six existing cohorts (first level); a subcohort of 1301 mother-child pairs where biomarkers, omics signatures and child health outcomes were measured at age 6–11 years (second level) and repeat-sampling panel studies with around 150 children and 150 pregnant women aimed at collecting personal exposure data (third level)." . _:1c8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIX"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7540; , ; "GCST90454540"; "A collection of COVID-19 phenotypes from participants sequenced with the Helix Exome+ assay, including those of the Healthy Nevada Project, a population health study established in 2016 by Renown Health and the Desert Research Institute in Reno, Nevada, contributed to COVID-19 host genetics studies."; "The acronym Helix also denotes Human Early Life Exposome (COHO:0000827); this term is Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes."@en; "Helix", "Helix Exome+ COVID-19 Phenotypes", "Helix_Exome"; ; rdfs:label "Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7540 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7540; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9632827/fullTextXML"; rdfs:comment "C) Susceptibility to COVID-19, where cases are anyone who tested positive for COVID-19, self-reported an infection to SARS-CoV-2, or had a mention of COVID-19 in their medical record." . _:1c902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7982958/fullTextXML"; rdfs:comment "The Healthy Nevada Project (HNP), a population health study developed in collaboration between Renown Health and the Desert Research Institute in Reno, Nevada, was established in 2016 to examine the effects genetics may have on Nevadan health outcomes." . _:1c912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina)" . _:1c922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of COVID-19 phenotypes from participants sequenced with the Helix Exome+ assay, including those of the Healthy Nevada Project, a population health study established in 2016 by Renown Health and the Desert Research Institute in Reno, Nevada, contributed to COVID-19 host genetics studies."; "PMID:33763119", "PMID:36327219"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Helix"; . _:1c942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Helix_Exome"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7547; ; "GCST90129535"; "An international consortium that meta-analyses genome-wide association studies of venous thromboembolism from many case-control and population studies (30,234 cases and 172,122 controls from 18 studies in its 2019 analysis, 29 studies in later case-only analyses) to identify genetic risk factors for venous thromboembolism and its subtypes."; 30234; 172122; "INVENT", "INVENT Consortium", "International Network Against Venous Thrombosis"; ; rdfs:label "International Network Against Venous Thrombosis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7547 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7547; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9412533/fullTextXML"; rdfs:comment "The INVENT Consortium included 30,234 VTE cases and 172,122 controls from 18 studies with varying diagnostic approaches, which were detailly described in the genome-wide association study [25]." . _:1c962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5379621/fullTextXML"; rdfs:comment "Because 865 MARTHA/EOVT participants examined in the current study also took part in the INVENT study, we were able to calculate the Spearman correlation between the true rs121918472 genotype as provided by Illumina Exome array results, and the imputed dose-derived from GWAS arrays." . _:1c972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129535"; "Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations."; "PMID:35285134", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9314075/fullTextXML"; rdfs:comment "Appendix B contains a list of investigators from the INVENT consortium that contributed to the VTE summary data." . _:1c982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that meta-analyses genome-wide association studies of venous thromboembolism from many case-control and population studies (30,234 cases and 172,122 controls from 18 studies in its 2019 analysis, 29 studies in later case-only analyses) to identify genetic risk factors for venous thromboembolism and its subtypes."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9412533/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1c992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30234; "VTE cases and controls in the 2019 GWAS meta-analysis of 18 studies"; "PMID:31420334"; rdfs:comment "We meta-analyzed GWAS data from 18 studies for 30 234 VTE cases and 172 122 controls and assessed the association between 12 923 718 genetic variants and VTE." . _:1c9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 172122; "VTE cases and controls in the 2019 GWAS meta-analysis of 18 studies"; "PMID:31420334"; rdfs:comment "We meta-analyzed GWAS data from 18 studies for 30 234 VTE cases and 172 122 controls and assessed the association between 12 923 718 genetic variants and VTE." . _:1c9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INVENT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7555; , ; , ; "GCST90296729"; "A population-based case-control study of bladder cancer in Los Angeles County, United States, with cases aged 25–64 diagnosed in 1987–1996 identified through the Los Angeles County Cancer Surveillance Program and matched neighbourhood controls, used to study lifestyle and genetic risk factors for bladder cancer."; 1586; 1586; "LABCS", "Los Angeles BC ca–co study"; ; rdfs:label "Los Angeles Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7555 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1c9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7555; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19174821+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the association between urinary tract infections (UTIs) and transitional cell carcinoma of the bladder in a population-based case-control study in Los Angeles covering 1586 cases and age-, gender-, and race-matched neighbourhood controls." . _:1c9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2653778/fullTextXML"; rdfs:comment "We collected detailed information on UTIs in a large population-based case–control study of bladder cancer in Los Angeles County, where we have identified risk factors including cigarette smoking (Castelao et al, 2001) and use of permanent hair dyes among women (Gago-Dominguez et al, 2001, 2003), and protective factors including use of non-steroidal anti-inflammatory drugs (NSAIDs) (Castelao et al, 2000) and consumption of carotenoids and vitamin C (Castelao et al, 2004)." . _:1c9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://ars.els-cdn.com/content/image/1-s2.0-S030228382302780X-mmc3.xlsx"; rdfs:comment "Los Angeles Bladder Cancer Study (LABCS)" . _:1c9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of bladder cancer in Los Angeles County, United States, with cases aged 25–64 diagnosed in 1987–1996 identified through the Los Angeles County Cancer Surveillance Program and matched neighbourhood controls, used to study lifestyle and genetic risk factors for bladder cancer."; "PMID:19174821"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ca02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1586; "matched case-control pairs included in the analyses"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2653778/fullTextXML"; rdfs:comment "Therefore, a total of 1586 pairs of cases and controls were included in the analyses." . _:1ca12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1586; "matched case-control pairs included in the analyses"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2653778/fullTextXML"; rdfs:comment "Therefore, a total of 1586 pairs of cases and controls were included in the analyses." . _:1ca22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LABCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7563, _:genid-371333f489424440b12a13b9d98ced822608-genid7565, _:genid-371333f489424440b12a13b9d98ced822608-genid7567; , ; "GCST90054778"; "A prospective population-based German birth cohort of 3,097 healthy term newborns born between 1997 and 1999 and recruited in obstetric hospitals in Munich, Leipzig, Wesel and Bad Honnef, followed through childhood and adolescence to study the influence of lifestyle, environmental exposures such as air pollution, and genetics on the development of the immune system and allergic diseases."; 3097; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/LISA"; "Influence of Life-style factors on Development of the Immune System and Allergies in East and West Germany", "LISA", "LISAplus", "Lifestyle Immune System Allergy study", "Lifestyle-Immune System-Allergy Plus Environment and Genetics Study"; , ; rdfs:label "Influence of Life-style factors on Development of the Immune System and Allergies in East and West Germany plus Air Pollution and Genetics on Allergy Development"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7563 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7565 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7567 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ca32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7563; "life-style factors"; "https://ars.els-cdn.com/content/image/1-s2.0-S0890856722001794-mmc2.docx"; rdfs:comment "LISA The influence of Life-style factors on the development of the Immune System and Allergies in East and West Germany PLUS the influence of traffic emissions and genetics (LISAplus) Study is a population based birth cohort study." . _:1ca42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7565; "traffic emissions"; "https://ars.els-cdn.com/content/image/1-s2.0-S0890856722001794-mmc2.docx"; rdfs:comment "LISA The influence of Life-style factors on the development of the Immune System and Allergies in East and West Germany PLUS the influence of traffic emissions and genetics (LISAplus) Study is a population based birth cohort study." . _:1ca52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7567; "allergic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "The two large German birth cohorts, GINIplus and LISAplus, recruited 5,991 and 3,097 children, respectively, in Munich (West), Leipzig (East), Wesel (West), and Bad Honnef (West) to investigate various influences on the development of the immune system and the etiology of allergic diseases." . _:1ca62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "The two large German birth cohorts, GINIplus and LISAplus, recruited 5,991 and 3,097 children, respectively, in Munich (West), Leipzig (East), Wesel (West), and Bad Honnef (West) to investigate various influences on the development of the immune system and the etiology of allergic diseases." . _:1ca72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90054778"; "Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing Symptoms."; "PMID:35378236", "https://ars.els-cdn.com/content/image/1-s2.0-S0890856722001794-mmc2.docx"; rdfs:comment "LISA The influence of Life-style factors on the development of the Immune System and Allergies in East and West Germany PLUS the influence of traffic emissions and genetics (LISAplus) Study is a population based birth cohort study." . _:1ca82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based German birth cohort of 3,097 healthy term newborns born between 1997 and 1999 and recruited in obstetric hospitals in Munich, Leipzig, Wesel and Bad Honnef, followed through childhood and adolescence to study the influence of lifestyle, environmental exposures such as air pollution, and genetics on the development of the immune system and allergic diseases."; "PMID:30402607"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ca92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3097; "newborns recruited at birth 1997-1999"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6040001/fullTextXML"; rdfs:comment "Of the 3,097 recruited newborns, 1,760 (56.8%) children could be followed until the age of 10 years." . _:1caa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LISA"; . _:1cab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LISAplus"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7575; , ; ; "GCST90128530"; "A case-control study at the Mayo Clinic, Rochester, Minnesota, of adults with objectively diagnosed venous thromboembolism and age- and sex-matched controls, supplemented by Olmsted County residents with incident venous thromboembolism and matched controls, used for candidate-gene, genome-wide and whole-genome sequencing studies of venous thromboembolism risk."; 1503; 1459; "GENEVA Study of Venous Thromboembolism", "MAYO VTE", "Mayo VTE", "Mayo Venous Thromboembolism Case–Control Study", "Mayo Venous Thromboembolism Study", "Mayo_VTE"; ; rdfs:label "Mayo Clinic Venous Thromboembolism Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7575; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Mayo Venous Thromboembolism Study (Mayo VTE) is a case-control study of venous thromboembolism (VTE) conducted at the Mayo Clinic (Rochester, MN))." . _:1cad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3419811/unicode"; rdfs:comment "Replication study leukocyte genomic DNA samples were largely from Olmsted County, MN, USA residents with objectively-diagnosed incident VTE over the 45-year period, 1966-2010, and previously-matched Olmsted County resident controls, as previously described." . _:1cae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Mayo Venous Thromboembolism Study (Mayo VTE) is a case-control study of venous thromboembolism (VTE) conducted at the Mayo Clinic (Rochester, MN))." . _:1caf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study at the Mayo Clinic, Rochester, Minnesota, of adults with objectively diagnosed venous thromboembolism and age- and sex-matched controls, supplemented by Olmsted County residents with incident venous thromboembolism and matched controls, used for candidate-gene, genome-wide and whole-genome sequencing studies of venous thromboembolism risk."; "PMID:22672568"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1503; "VTE cases and controls of the Mayo candidate-gene (discovery) study population (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3419811/unicode"; rdfs:comment "The discovery study population consisted 1503 VTE cases and 1459 controls (Supplementary Table 1) from a candidate gene (CG) study, as previously described." . _:1cb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1459; "VTE cases and controls of the Mayo candidate-gene (discovery) study population (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3419811/unicode"; rdfs:comment "The discovery study population consisted 1503 VTE cases and 1459 controls (Supplementary Table 1) from a candidate gene (CG) study, as previously described." . _:1cb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYO VTE"; . _:1cb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo VTE"; . _:1cb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo_VTE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7585, _:genid-371333f489424440b12a13b9d98ced822608-genid7587, _:genid-371333f489424440b12a13b9d98ced822608-genid7589, _:genid-371333f489424440b12a13b9d98ced822608-genid7591, _:genid-371333f489424440b12a13b9d98ced822608-genid7593, _:genid-371333f489424440b12a13b9d98ced822608-genid7595; , ; "GCST90994116"; "A multicase-control study in Spain that recruited hospital-based cases of several common cancers, including breast, colorectal and prostate cancer, and population-based controls in 2008–2013, to study environmental, lifestyle and genetic risk factors for these cancers."; 4098; 10106; "MCC-Spain", "Multi-case Control Study, Spain", "Spanish Multicenter Case-Control Study", "Spanish multicase-control study"; ; rdfs:label "Multicase-Control Study in Spain"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7585 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7591 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7593 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7595 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7585; "chronic lymphocytic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41183009+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated the association between lifetime pool attendance and the risk of breast, colorectal, and prostate cancer in a multicase-control study that recruited 4,941 hospital-based cancer cases (1,724 breast, 2,111 colorectal, 1,106 prostate) and 4,039 population-based controls in Spain (2008-2013)." . _:1cb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7587; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41183009+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated the association between lifetime pool attendance and the risk of breast, colorectal, and prostate cancer in a multicase-control study that recruited 4,941 hospital-based cancer cases (1,724 breast, 2,111 colorectal, 1,106 prostate) and 4,039 population-based controls in Spain (2008-2013)." . _:1cb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7589; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41183009+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated the association between lifetime pool attendance and the risk of breast, colorectal, and prostate cancer in a multicase-control study that recruited 4,941 hospital-based cancer cases (1,724 breast, 2,111 colorectal, 1,106 prostate) and 4,039 population-based controls in Spain (2008-2013)." . _:1cb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7591; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41183009+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated the association between lifetime pool attendance and the risk of breast, colorectal, and prostate cancer in a multicase-control study that recruited 4,941 hospital-based cancer cases (1,724 breast, 2,111 colorectal, 1,106 prostate) and 4,039 population-based controls in Spain (2008-2013)." . _:1cb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7593; "nitrate in drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12631987/fullTextXML"; rdfs:comment "Long-Term Exposure to Nitrate and Trihalomethanes in Drinking Water and Prostate Cancer: A Multicase-Control Study in Spain (MCC-Spain)" . _:1cba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7595; "trihalomethanes in drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12631987/fullTextXML"; rdfs:comment "Long-Term Exposure to Nitrate and Trihalomethanes in Drinking Water and Prostate Cancer: A Multicase-Control Study in Spain (MCC-Spain)" . _:1cbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41183009+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated the association between lifetime pool attendance and the risk of breast, colorectal, and prostate cancer in a multicase-control study that recruited 4,941 hospital-based cancer cases (1,724 breast, 2,111 colorectal, 1,106 prostate) and 4,039 population-based controls in Spain (2008-2013)." . _:1cbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90994116"; "Genome-wide interaction analysis of long-term trihalomethane exposure in drinking water and colorectal cancer risk in a Spanish Multicenter Case-Control Study (MCC-Spain)."; "PMID:41544563", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41544563+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genome-wide interaction analysis of long-term trihalomethane exposure in drinking water and colorectal cancer risk in a Spanish Multicenter Case-Control Study (MCC-Spain)." . _:1cbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicase-control study in Spain that recruited hospital-based cases of several common cancers, including breast, colorectal and prostate cancer, and population-based controls in 2008–2013, to study environmental, lifestyle and genetic risk factors for these cancers."; "PMID:41183009"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4098; "subjects enrolled 2008-2013 (cases of five cancers and population controls)"; "PMID:25613680"; rdfs:comment "Between 2008-2013, 10,106 subjects aged 20-85 were enrolled in 23 hospitals and primary care centres in 12 Spanish provinces including 1,112 cases with a new diagnosis of prostate cancer, 1,738 of breast cancer, 2,140 of colorectal cancer, 459 of gastro-oesophageal cancer, 559 cases with chronic lymphocytic leukaemia and 4,098 population controls frequency matched to cases by age, sex and region of residence." . _:1cbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10106; "subjects enrolled 2008-2013 (cases of five cancers and population controls)"; "PMID:25613680"; rdfs:comment "Between 2008-2013, 10,106 subjects aged 20-85 were enrolled in 23 hospitals and primary care centres in 12 Spanish provinces including 1,112 cases with a new diagnosis of prostate cancer, 1,738 of breast cancer, 2,140 of colorectal cancer, 459 of gastro-oesophageal cancer, 559 cases with chronic lymphocytic leukaemia and 4,098 population controls frequency matched to cases by age, sex and region of residence." . _:1cc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCC-Spain"; . a owl:NamedIndividual, ; , ; , , ; "GCST90102623"; "A population-based family study of about 1,300 adults from Stelvio, Vallelunga and Martello, three small, historically isolated villages of the Val Venosta (Vinschgau) in South Tyrol, Italy, surveyed by the European Academy of Bozen/Bolzano (EURAC) in 2002–2003 and 2007, with reconstructed genealogies, to study the genetic epidemiology of Mendelian and complex diseases."; 1314; "MICROS", "MICROS study", "Micro-isolates in South Tyrol Study", "genetic study of three population microisolates in South Tyrol"; ; rdfs:label "Microisolates in South Tyrol Study"@en . _:1cc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1913911/fullTextXML"; rdfs:comment "As a part of a larger, ongoing genetic healthcare research program on the South Tyrolean population (the GenNova project), in 2002–2003, an extensive survey (the MICROS study) was carried out on the populations of Stelvio, Vallelunga and Martello, three villages of the Val Venosta." . _:1cc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102623"; "Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits."; "PMID:27329260", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5013013/supplementaryFiles"; rdfs:comment "MICROS 1 1189 - 0 - 47 46 149.0 (84) NA Italy Pattaro el al (2007), BMC Med Gen 5, 8-29" . _:1cc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based family study of about 1,300 adults from Stelvio, Vallelunga and Martello, three small, historically isolated villages of the Val Venosta (Vinschgau) in South Tyrol, Italy, surveyed by the European Academy of Bozen/Bolzano (EURAC) in 2002–2003 and 2007, with reconstructed genealogies, to study the genetic epidemiology of Mendelian and complex diseases."; "PMID:17550581", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12119133/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1314; "adult residents enrolled 2002-3 and 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12119133/fullTextXML"; rdfs:comment "The prior MICROS study enrolled 1314 residents of three Vinschgau municipalities 18 years or older in 2002–3 and 2007 [8]." . _:1cc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MICROS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7608, _:genid-371333f489424440b12a13b9d98ced822608-genid7610; , ; , ; "GCST90102623"; "A prospective population-based multicentre study of 3,014 men aged 69–81, randomly selected from the Swedish national population register and examined at hospitals in Malmö, Gothenburg and Uppsala in 2001–2004, the Swedish part of the Osteoporotic Fractures in Men study, set up to identify risk factors for osteoporosis and fracture."; 3014; "MrOS-SWE", "MrOs Sweden", "Osteoporotic Fractures in Men (MrOs) Sweden study", "Osteoporotic Fractures in Men Study SWE", "Swedish MrOS"; ; rdfs:label "MrOS Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7608 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7610 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7608; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men (MrOs) Sweden study is a prospective population-based multicenter observational study consisting of 3014 older men aged between 69 and 81 years at inclusion (mean age 75.4 ± (SD) 3.2 years), with the main aim to identify risk factors for osteoporosis and fracture." . _:1cc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7610; "fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men (MrOs) Sweden study is a prospective population-based multicenter observational study consisting of 3014 older men aged between 69 and 81 years at inclusion (mean age 75.4 ± (SD) 3.2 years), with the main aim to identify risk factors for osteoporosis and fracture." . _:1cc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "In summary, participants were randomly selected from the Swedish national population register and invited by mail." . _:1cc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102623"; "Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits."; "PMID:27329260", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5013013/supplementaryFiles"; rdfs:comment "MrOS Sweden 1 941 - 0 - 100 75 113.1 (85.2, 145.8) NA Sweden [PMID: 16598372] Mellström et al. 2006 J Bone Miner Res 21, 529-535." . _:1cca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based multicentre study of 3,014 men aged 69–81, randomly selected from the Swedish national population register and examined at hospitals in Malmö, Gothenburg and Uppsala in 2001–2004, the Swedish part of the Osteoporotic Fractures in Men study, set up to identify risk factors for osteoporosis and fracture."; "PMID:30902044"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ccb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3014; "men aged 69-81 included at baseline (2001-2004)"; "PMID:30902044"; rdfs:comment "MrOs Sweden is a prospective population-based observational study that at baseline included 3014 men aged 69-81 years." . _:1ccc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MrOS-SWE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7617, _:genid-371333f489424440b12a13b9d98ced822608-genid7619, _:genid-371333f489424440b12a13b9d98ced822608-genid7621, _:genid-371333f489424440b12a13b9d98ced822608-genid7623; , ; ; "GCST90296729"; "A population-based case-control study of bladder cancer among residents of Maine, New Hampshire and Vermont, United States, with cases newly diagnosed in 2001–2004 and population controls frequency-matched on age, sex and state, used to study environmental, dietary and genetic risk factors for bladder cancer."; 1213; 1418; "NEBCS", "NEBCS-ME/VT", "NEBCS-NH", "New England Bladder Cancer Case-Control Study"; ; rdfs:label "New England Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7617 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7619 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7621 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7623 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ccd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7617; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "Briefly, in New England, cases included patients newly diagnosed with carcinoma of the urinary bladder between 2001 and 2004 among residents of Maine, New Hampshire, and Vermont and population controls, which were frequency matched to the cases by age at diagnosis/interview, sex, and state of residence (989 White cases and 1,162 White controls with complete exposure information and genotype data)." . _:1cce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7619; "disinfection by-products"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "In New England, a trained study interviewer visited participants’ homes and administered a computer-assisted personal interview (CAPI) that elicited information on a variety of factors, including global positioning system (GPS) coordinates of the current residence, and a lifetime residential history that was used to reconstruct lifetime water source information." . _:1ccf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7621; "arsenic in water supply"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "In New England, a trained study interviewer visited participants’ homes and administered a computer-assisted personal interview (CAPI) that elicited information on a variety of factors, including global positioning system (GPS) coordinates of the current residence, and a lifetime residential history that was used to reconstruct lifetime water source information." . _:1cd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7623; "trihalomethanes in drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "In New England, a trained study interviewer visited participants’ homes and administered a computer-assisted personal interview (CAPI) that elicited information on a variety of factors, including global positioning system (GPS) coordinates of the current residence, and a lifetime residential history that was used to reconstruct lifetime water source information." . _:1cd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9088962/fullTextXML"; rdfs:comment "Early epidemiologic studies suggested that exposure to chlorinated drinking water was related to bladder cancer risk,13 an association that was confirmed in later studies, including the most recent meta-analysis.14 More detailed analyses have recently supported an exposure–response relationship between THM exposure and bladder cancer risk, as reviewed by Costet et al.14 Two case–control studies conducted in Spain 15 and New England, USA,16 respectively, have suggested an exposure–response relationship between increasing exposure to THMs, and bladder cancer risk." . _:1cd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10330197/unicode"; rdfs:comment "Formalin-fixed, paraffin-embedded tumor tissue blocks from the New England Bladder Cancer Study (NEBCS), the Spanish Bladder Cancer EPICURO Study (SBCS), and the UROMOL consortium were used to determine FGFR3 somatic mutations (Supplementary material)." . _:1cd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of bladder cancer among residents of Maine, New Hampshire and Vermont, United States, with cases newly diagnosed in 2001–2004 and population controls frequency-matched on age, sex and state, used to study environmental, dietary and genetic risk factors for bladder cancer."; "PMID:35536285"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1213; "bladder cancer patients and population controls interviewed 2001-2004"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2778671/"; rdfs:comment "We interviewed 1213 bladder cancer patients (65% of 1878 eligible patients)." . _:1cd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1418; "bladder cancer patients and population controls interviewed 2001-2004"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2778671/"; rdfs:comment "We interviewed 1213 bladder cancer patients (65% of 1878 eligible patients)." . _:1cd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEBCS"; . _:1cd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEBCS-ME/VT"; . _:1cd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEBCS-NH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7633; "GCST90104085"; "A collection of Parkinson's disease patients and neurologically normal controls whose samples are held in the NINDS repository at the Coriell Institute and were genotyped genome-wide and publicly released through dbGaP (phs001172, including phs000089) for studies of genetic risk of Parkinson's disease."; 2116; "NINDS", "NINDS PD dataset", "NINDS Parkinson's Disease", "National Institute of Neurological Disorders and Stroke Parkinson's Disease dataset"; ; rdfs:label "NINDS Parkinson's Disease dataset"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7633 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7633; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17052657+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We did genome-wide, single-nucleotide-polymorphism (SNP) genotyping of publicly available samples from a cohort of Parkinson's disease patients (n=267) and neurologically normal controls (n=270)." . _:1cda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104085"; "Common X-Chromosome Variants Are Associated with Parkinson Disease Risk."; "PMID:33583074", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8601399/"; rdfs:comment "PD data also included the NINDS Parkinson’s Disease dataset provided through dbGaP accession phs001172." . _:1cdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of Parkinson's disease patients and neurologically normal controls whose samples are held in the NINDS repository at the Coriell Institute and were genotyped genome-wide and publicly released through dbGaP (phs001172, including phs000089) for studies of genetic risk of Parkinson's disease."; "PMID:17052657"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2116; "consented subjects in the dbGaP NINDS Parkinson's Disease Cohort study (phs001172)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001172.v1.p2"; rdfs:comment "Total number of consented subjects: 2116" . _:1cdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NINDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7639; , ; "GCST90472755"; "A set of about 115 autopsied people referred with rapidly progressive dementia resembling prion disease to the National Prion Disease Pathology Surveillance Center at Case Western Reserve University between 2009 and 2017, in whom neuropathology, prion protein typing, PRNP sequencing and record review excluded prion disease and confirmed Alzheimer's disease, whole-genome sequenced from frozen brain tissue for genetic studies of rapidly progressive Alzheimer's disease."; 115; "NPDPSC", "NPDPSC rpAD"; ; rdfs:label "NPDPSC pathology-confirmed rpAD"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7639 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7639; "rapidly progressive Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10984493/fullTextXML"; rdfs:comment "By analyzing data from the National Prion Disease Pathology Surveillance Center (NPDPSC) and the National Alzheimer's Coordinating Center (NACC), we constructed two data sets of rpAD cases based on either pathological findings or cognitive measurements." . _:1cdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13520194/fullTextXML"; rdfs:comment "In this single-center cohort study, we gathered data on individuals who received positive antemortem PRNP genetic tests at the US National Prion Disease Pathology Surveillance Center (NPDPSC), including both diagnostic tests in symptomatic individuals, and predictive tests in asymptomatic individuals." . _:1ce02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90472755"; "Genome-wide association studies identify novel loci in rapidly progressive Alzheimer's disease."; "PMID:38184787", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10984493/fullTextXML"; rdfs:comment "By analyzing data from the National Prion Disease Pathology Surveillance Center (NPDPSC) and the National Alzheimer's Coordinating Center (NACC), we constructed two data sets of rpAD cases based on either pathological findings or cognitive measurements." . _:1ce12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A set of about 115 autopsied people referred with rapidly progressive dementia resembling prion disease to the National Prion Disease Pathology Surveillance Center at Case Western Reserve University between 2009 and 2017, in whom neuropathology, prion protein typing, PRNP sequencing and record review excluded prion disease and confirmed Alzheimer's disease, whole-genome sequenced from frozen brain tissue for genetic studies of rapidly progressive Alzheimer's disease."; "PMID:38184787"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ce22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 115; "pathology-confirmed rpAD cases identified at NPDPSC"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10984493/fullTextXML"; rdfs:comment "We identified 115 pathology‐confirmed cases of rpAD in NPDPSC." . _:1ce32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPDPSC"; . _:1ce42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPDPSC rpAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7647; , ; "GCST90897930"; "A cross-sectional observational cohort of more than 800 adult patients with sickle cell disease enrolled between 2002 and 2015 at sickle cell centres in the southeastern United States, coordinated from Duke University, to study genetic associations with clinical outcomes."; 800; "Duke University Outcome Modifying Genes study", "OMG-SCD", "OMG_SCD", "Outcome Modifying Genes in SCD", "TOPMed OMG-SCD"; ; rdfs:label "Outcome Modifying Genes in Sickle Cell Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7647 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ce52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7647; "sickle cell disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7416942/fullTextXML"; rdfs:comment "The OMG-SCD study enrolled over 800 adult patients with SCD to study genetic associations with clinical outcomes from five sickle cell centers in the southeastern U.S. between 2002 and 2015." . _:1ce62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10469559/fullTextXML"; rdfs:comment "OMG-SCD participants were recruited for a cross-sectional observational study from 4 sickle cell centers in the southeastern United States." . _:1ce72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "Cooperative Study of Sickle Cell Disease (CSSCD: n = 841), Multicenter Study of Hydroxyurea (MSH: n = 178), Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study (n = 73), Comprehensive Sickle Cell Centers Collaborative Data (C-data) project (n = 127), Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment (Walk-PHaSST) trial (n = 181), Duke University Outcome Modifying Genes study (n = 152), and Silent Infarct Transfusion (SIT) trial (SITT: n = 488)." . _:1ce82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional observational cohort of more than 800 adult patients with sickle cell disease enrolled between 2002 and 2015 at sickle cell centres in the southeastern United States, coordinated from Duke University, to study genetic associations with clinical outcomes."; "PMID:32776978"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ce92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 800; "adult patients enrolled 2002-2015 (stated as 'over 800')"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7416942/fullTextXML"; rdfs:comment "The OMG-SCD study enrolled over 800 adult patients with SCD to study genetic associations with clinical outcomes from five sickle cell centers in the southeastern U.S. between 2002 and 2015." . _:1cea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMG-SCD"; . _:1ceb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMG_SCD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7655; , ; ; "GCST90428054"; "A population-based incidence cohort of people diagnosed with Parkinson's disease within the previous 3.5 years, recruited by the Oxford Parkinson's Disease Centre from 11 hospitals across the Thames Valley, England, between 2010 and 2014, and followed with motor, cognitive and non-motor assessments to study Parkinson's disease progression and subtypes."; 924; "OD", "OPDC", "OPDC Discovery Cohort", "Oxford Discovery", "Oxford Parkinson Disease Centre Discovery Cohort", "Oxford Parkinson’s Disease Centre cohort study", "PD-Discovery"; ; rdfs:label "Oxford Parkinson's Disease Centre Discovery Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7655 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7655; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4923737/fullTextXML"; rdfs:comment "PD patients diagnosed within the past 3.5 years were prospectively recruited as part of the Oxford Parkinson’s Disease Centre (OPDC) cohort study from 11 hospitals across the Thames Valley covering a population of approximately 2.1 million (PD-Discovery, website: http://opdc.medsci.ox.ac.uk)." . _:1ced2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4923737/fullTextXML"; rdfs:comment "PD patients diagnosed within the past 3.5 years were prospectively recruited as part of the Oxford Parkinson’s Disease Centre (OPDC) cohort study from 11 hospitals across the Thames Valley covering a population of approximately 2.1 million (PD-Discovery, website: http://opdc.medsci.ox.ac.uk)." . _:1cee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428054"; "Genetic meta-analysis of levodopa induced dyskinesia in Parkinson's disease."; "PMID:37652906", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10471743/fullTextXML"; rdfs:comment "We then validated the proposed SNP set on the OPDC cohort by measuring the ability to distinguish LiD PD patients." . _:1cef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based incidence cohort of people diagnosed with Parkinson's disease within the previous 3.5 years, recruited by the Oxford Parkinson's Disease Centre from 11 hospitals across the Thames Valley, England, between 2010 and 2014, and followed with motor, cognitive and non-motor assessments to study Parkinson's disease progression and subtypes."; "PMID:26405788"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 924; "Parkinson's disease patients recruited by the time of analysis (recruitment Sept 2010 to Sept 2014)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4923737/fullTextXML"; rdfs:comment "At the time of this analysis, OPDC had recruited 924 patients (see Fig. 1) but we excluded 154 subjects either because of disease duration (41), they had a prior PD probability of <90% clinically (112), or because of a concomitant neurological disorder leading to significant disability in addition to PD, such that assessment of motor function was invalid (1)." . _:1cf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OD"; . _:1cf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPDC"; . _:1cf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PD-Discovery"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7664, _:genid-371333f489424440b12a13b9d98ced822608-genid7666, _:genid-371333f489424440b12a13b9d98ced822608-genid7668, _:genid-371333f489424440b12a13b9d98ced822608-genid7670, _:genid-371333f489424440b12a13b9d98ced822608-genid7672; , ; ; "GCST009965", "PGS019953"; "A family sample of sibships ascertained through the Australian Twin Registry, with diagnostic interviews and blood or buccal DNA, members of which were genotyped genome-wide to study genetic contributions to alcohol use and dependence and nicotine dependence."; 8754; "AUSTWIN", "Alcohol Research using Australian twins and their families", "Australian Twin-Family Studies", "Australian Twin-Family Studies on Nicotine and Alcohol Genetics", "Australian Twin-Family Study", "Australian twin-family study of alcohol use disorder", "NAG/IRPG", "Nicotine Addiction Genetics study / Interactive Research Project Grants", "OZ-ALC", "OZ-ALC-NAG", "OZALC", "OZALC-NAG"; , ; rdfs:label "Australian Alcohol and Nicotine Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7664 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7666 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7668 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7670 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7672 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1cf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7664; "heaviness of drinking"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3210694/unicode"; rdfs:comment "Index cases from these families, their full siblings and parents were recruited for three coordinated studies: (i) the NAG (Nicotine Addiction Genetics) Study which ascertained heavy smoking index cases; (ii) the OZALC-EDAC study, which ascertained index cases with a history of alcohol dependence or scoring above the 85th centile for heaviness of drinking factor score" . _:1cf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7666; "alcohol dependence"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3210694/unicode"; rdfs:comment "Index cases from these families, their full siblings and parents were recruited for three coordinated studies: (i) the NAG (Nicotine Addiction Genetics) Study which ascertained heavy smoking index cases; (ii) the OZALC-EDAC study, which ascertained index cases with a history of alcohol dependence or scoring above the 85th centile for heaviness of drinking factor score" . _:1cf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7668; "heavy smoking"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3210694/unicode"; rdfs:comment "Index cases from these families, their full siblings and parents were recruited for three coordinated studies: (i) the NAG (Nicotine Addiction Genetics) Study which ascertained heavy smoking index cases; (ii) the OZALC-EDAC study, which ascertained index cases with a history of alcohol dependence or scoring above the 85th centile for heaviness of drinking factor score" . _:1cf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7670; "alcohol dependence"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3210694/unicode"; rdfs:comment "Index cases from these families, their full siblings and parents were recruited for three coordinated studies: (i) the NAG (Nicotine Addiction Genetics) Study which ascertained heavy smoking index cases; (ii) the OZALC-EDAC study, which ascertained index cases with a history of alcohol dependence" . _:1cf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7672; "nicotine addiction"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3210694/unicode"; rdfs:comment "Index cases from these families, their full siblings and parents were recruited for three coordinated studies: (i) the NAG (Nicotine Addiction Genetics) Study which ascertained heavy smoking index cases; (ii) the OZALC-EDAC study, which ascertained index cases with a history of alcohol dependence" . _:1cf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST009965"; "Genome-wide association meta-analysis of nicotine metabolism and cigarette consumption measures in smokers of European descent."; "PMID:32157176", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-020-0702-z/MediaObjects/41380_2020_702_MOESM1_ESM.pdf"; rdfs:comment "Cohort 5: OZALC-NAG (Australia) The Australian samples were women and men (aged between 20–90 years) ascertained through more than 12,000 families with information about history of cigarette smoking" . _:1cfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS019953"; "Alcohol is neither a risk factor nor a protective factor for sudden cardiac death and/or fatal ventricular arrhythmia: A population-based study with genetic traits and alcohol consumption in the UK Biobank."; "PMID:38697272" . _:1cfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family sample of sibships ascertained through the Australian Twin Registry, with diagnostic interviews and blood or buccal DNA, members of which were genotyped genome-wide to study genetic contributions to alcohol use and dependence and nicotine dependence."; "PMID:21529783"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1cfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8754; "family members genotyped genome-wide (analysed subset of the families), 2011"; "PMID:21529783"; rdfs:comment "Genome-wide single nucleotide polymorphism (SNP) genotyping was performed with 8754 individuals (2062 alcohol-dependent cases) selected for informativeness for alcohol use disorder and associated quantitative traits." . _:1cfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AUSTWIN"; . _:1cfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAG/IRPG"; . _:1cff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OZ-ALC"; . _:1d002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OZ-ALC-NAG"; . _:1d012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OZALC"; . _:1d022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OZALC-NAG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7684; , ; ; "GCST90321081"; "A longitudinal multi-project collection of clinical data and biosamples from people with Parkinson's disease at different stages, other parkinsonism, essential tremor and controls, established in 2012 by the US National Institute of Neurological Disorders and Stroke as a consortium of biomarker discovery projects with standardized procedures and a shared data management resource."; 338; 1082; "NINDS Parkinson's Disease Biomarkers Program", "PDBP", "Parkinson Disease Biomarkers Program", "Parkinson's Disease Biomarker Program", "Parkinson's Disease Biomarkers Project"; ; rdfs:label "Parkinson's Disease Biomarkers Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7684 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7684; "Parkinson's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4824671/unicode"; rdfs:comment "PDBP is building a resource of longitudinally collected data and biosamples from well-characterized patients with PD of different stages and duration, parkinsonism, and control participants, and includes hypothesis-driven biomarker discovery projects." . _:1d042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4824671/unicode"; rdfs:comment "The Parkinson Disease Biomarkers Program (PDBP) is a consortium of laboratory and clinical biomarker discovery projects funded by the National Institute of Neurological Diseases and Stroke (NINDS, National Institutes of Health (NIH), United States)." . _:1d052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90321081"; "Genome-wide Analysis of Motor Progression in Parkinson Disease."; "PMID:37560120", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10409573/fullTextXML"; rdfs:comment "Clinical data and biosamples used in preparation of this article were obtained from the Parkinson's Progression Markers Initiative (PPMI) and the Parkinson's Disease Biomarkers Program (PDBP)." . _:1d062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal multi-project collection of clinical data and biosamples from people with Parkinson's disease at different stages, other parkinsonism, essential tremor and controls, established in 2012 by the US National Institute of Neurological Disorders and Stroke as a consortium of biomarker discovery projects with standardized procedures and a shared data management resource."; "PMID:26442452"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 338; "participants enrolled as of October 2014 (72% of planned enrolment)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4824671/unicode"; rdfs:comment "The PDBP has enrolled 1082 individuals, including 620 with PD, 101 with parkinsonism (46 PSP, 36 MSA, 19 parkinsonism with currently undetermined diagnosis), 23 with essential tremor, and 338 controls (72% of planned enrollment) as of 10/21/2014 (enrollment ends 8/31/2015)." . _:1d082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1082; "participants enrolled as of October 2014 (72% of planned enrolment)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4824671/unicode"; rdfs:comment "The PDBP has enrolled 1082 individuals, including 620 with PD, 101 with parkinsonism (46 PSP, 36 MSA, 19 parkinsonism with currently undetermined diagnosis), 23 with essential tremor, and 338 controls (72% of planned enrollment) as of 10/21/2014 (enrollment ends 8/31/2015)." . _:1d092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PDBP"; . a owl:NamedIndividual, ; , , ; ; "GCST90432122"; "A growing biobank and national consortium of case–control studies in Pakistan that aims to enrol one million participants (about 250,000 from 48 clinical sites in 17 cities by September 2023) across some 50 diseases, with whole-exome sequencing and recontact, used for genetic association and loss-of-function studies."; 250000; "PGR", "Pakistan Genome Resource", "Pakistan Genomic Resource (PGR)", "Pakistan Genomics Resource"; , ; rdfs:label "Pakistan Genomic Resource"@en; rdfs:seeAlso . _:1d0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399414/fullTextXML"; rdfs:comment "PGR is a growing biobank that aims to enroll 1 million participants across Pakistan and as of September 2023, ~250,000 participants across n = 48 clinical sites in n = 17 cities from all over Pakistan have been enrolled." . _:1d0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432122"; "NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke."; "PMID:39271666", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399414/fullTextXML"; rdfs:comment "This study focused on two distinct cohorts, including 75 K individuals from the Pakistan Genomic Resource (PGR) and 380 K individuals (n = 380,537) from the United Kingdom Biobank (UKB) The PGR 75 K individuals were recruited and consented in Pakistan for whole exome sequencing (WES) (n = 75,819), including a stroke case:control discovery cohort of 31 K (n = 31,737; n = 5135 cases and n = 26,602 controls) sequenced by the Regeneron Genetics Center and a follow-up cohort of 44 K (n = 44,082), including 30 K with self-report stroke case:control status used for replication and meta-analysis (n = 30,399; n = 160 cases and n = 30,239 controls)." . _:1d0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A growing biobank and national consortium of case–control studies in Pakistan that aims to enrol one million participants (about 250,000 from 48 clinical sites in 17 cities by September 2023) across some 50 diseases, with whole-exome sequencing and recontact, used for genetic association and loss-of-function studies."; "PMID:39271666"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 250000; "participants enrolled by September 2023 (approximate; target 1 million)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399414/fullTextXML"; rdfs:comment "PGR is a growing biobank that aims to enroll 1 million participants across Pakistan and as of September 2023, ~250,000 participants across n = 48 clinical sites in n = 17 cities from all over Pakistan have been enrolled." . _:1d0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGR"; . _:1d0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pakistan Genomic Resource (PGR)"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7698, _:genid-371333f489424440b12a13b9d98ced822608-genid7700; , , ; "GCST009965"; "A multicentre, randomised, placebo-controlled smoking-cessation trial (NCT01314001) run from 2010 to 2014 at four academic medical centres in the United States and Canada, in which 1246 treatment-seeking smokers stratified by nicotine metabolite ratio were assigned to placebo, nicotine patch or varenicline."; 1246; "PNAT-2", "PNAT2", "Pharmacogenetics of Nicotine Addiction Treatment (PNAT)-2 clinical trial", "Pharmacogenetics of Nicotine Addiction and Treatment clinical trial"; ; rdfs:label "Pharmacogenetics of Nicotine Addiction Treatment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7698 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7700 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7698; "cigarette smoking, at least 10 cigarettes per day"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-020-0702-z/MediaObjects/41380_2020_702_MOESM1_ESM.pdf"; rdfs:comment "PNAT2 participants were eligible adult smokers (report smoking at least 10 CPD) from four clinical sites in North America and were randomized to placebo, nicotine patch, or varenicline based on their NMR at intake." . _:1d112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7700; "tobacco dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25588294+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Smokers seeking treatment were randomly assigned by baseline NMR status and study site, in blocks of 12 patients (1:1:1 ratio), to 11 weeks of placebo (placebo pill plus placebo patch), nicotine patch (active patch plus placebo pill), or varenicline (active pill plus placebo patch), plus behavioural counselling." . _:1d122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4480925/unicode"; rdfs:comment "We conducted the clinical trial at four academic medical centers (University of Pennsylvania (UPenn), Centre for Addiction and Mental Health/University of Toronto, State University of New York at Buffalo, and MD Anderson Cancer Center); assessment of the NMR was performed at the University of Toronto." . _:1d132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST009965"; "Genome-wide association meta-analysis of nicotine metabolism and cigarette consumption measures in smokers of European descent."; "PMID:32157176", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7483250/fullTextXML"; rdfs:comment "In support of this, a secondary analysis in PNAT2 showed no apparent impact of the rs56113850 T allele on increasing (COT+3HC)/CPD (Figure S13)." . _:1d142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, placebo-controlled smoking-cessation trial (NCT01314001) run from 2010 to 2014 at four academic medical centres in the United States and Canada, in which 1246 treatment-seeking smokers stratified by nicotine metabolite ratio were assigned to placebo, nicotine patch or varenicline."; "PMID:25588294"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1246; "treatment-seeking smokers enrolled and randomised"; "PMID:25588294"; rdfs:comment "1246 participants (662 slow metabolisers of nicotine, 584 normal metabolisers of nicotine) were enrolled and randomly assigned to the three interventions (408 placebo, 418 nicotine patch, 420 varenicline)." . _:1d162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNAT-2"; . _:1d172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNAT2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7708; , ; "GCST90446466"; "A Spanish case-control study of venous thromboembolism, based at the Hospital de la Santa Creu i Sant Pau in Barcelona, whose cases had a first venous thromboembolism and were sampled after 6–12 months of anticoagulant treatment, with healthy controls recruited from the general population, used to study genetic and plasma determinants of venous thromboembolism."; 398; 398; "RETROVE", "RETROVE study", "Riesgo de Enfermedad Tromboembolica Venosa"; ; rdfs:label "Riesgo de Enfermedad TROmboembólica VEnosa"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7708 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7708; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10247781/fullTextXML"; rdfs:comment "The Riesgo de Enfermedad TROmboembólica VEnosa (RETROVE) study is a prospective case–control study of 400 consecutive patients with VTE (cancer associated thrombosis excluded) and 400 healthy control volunteers." . _:1d192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10247781/fullTextXML"; rdfs:comment "the Spanish Riesgo de Enfermedad TROmboembólica VEnosa (RETROVE) study (n = 668) of patients sampled post anticoagulant treatment (n = 308), with population based controls (n = 360)" . _:1d1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446466"; "Genome-Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity."; "PMID:39424413", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39424413+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "QUICKTEST was applied to 4 independent genome-wide association studies studies (LURIC [Ludwigshafen RIsk and Cardiovascular Health Study], MARTHA [Marseille Thrombosis Association], MEGA [Multiple Environmental and Genetic Assessment], and RETROVE [Riesgo de Enfermedad Tromboembolica Venosa]) totaling 4505 participants of European ancestry with measured FV plasma levels." . _:1d1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Spanish case-control study of venous thromboembolism, based at the Hospital de la Santa Creu i Sant Pau in Barcelona, whose cases had a first venous thromboembolism and were sampled after 6–12 months of anticoagulant treatment, with healthy controls recruited from the general population, used to study genetic and plasma determinants of venous thromboembolism."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10247781/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 398; "patients with VT and controls in the RETROVE study sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11935730/fullTextXML"; rdfs:comment "They include the LURIC (Ludwigshafen Risk and Cardiovascular Health) study, 27 composed of 1833 individuals among whom 100 reported venous thrombosis (VT); a subsample of 1011 participants from the MARTHA (Marseille Thrombosis Association) study, 28 which consists of 1 592 patients with VT; a subsample of 865 participants from the MEGA (Multiple Environmental and Genetic Assessment) study, 29 comprising 1289 patients with VT; and the RETROVE (Riesgo de Enfermedad Tromboembolica Venosa) 30 study, which included a sample of 398 patients with VT and 398 controls." . _:1d1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 398; "patients with VT and controls in the RETROVE study sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11935730/fullTextXML"; rdfs:comment "They include the LURIC (Ludwigshafen Risk and Cardiovascular Health) study, 27 composed of 1833 individuals among whom 100 reported venous thrombosis (VT); a subsample of 1011 participants from the MARTHA (Marseille Thrombosis Association) study, 28 which consists of 1 592 patients with VT; a subsample of 865 participants from the MEGA (Multiple Environmental and Genetic Assessment) study, 29 comprising 1289 patients with VT; and the RETROVE (Riesgo de Enfermedad Tromboembolica Venosa) 30 study, which included a sample of 398 patients with VT and 398 controls." . _:1d1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RETROVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7716; , ; "GCST90572747"; "A multicentre prospective cohort of 646 patients with a first unprovoked major venous thromboembolism, enrolled from 12 tertiary care centres in 4 countries while on oral anticoagulation 5–7 months after the event and followed after stopping anticoagulation (to September 2006), to derive a clinical decision rule identifying patients at low risk of recurrent venous thromboembolism."; 665; "REVERSE", "REVERSE I", "REVERSE I study", "REVERSE cohort study", "REVERSE-I"; ; rdfs:label "Recurrent Venous Thromboembolism Risk Stratification Evaluation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7716 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7716; "unprovoked venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18725614+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a multicentre prospective cohort study, 646 participants with a first, unprovoked major venous thromboembolism were enrolled over a 4-year period." . _:1d202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13240746/fullTextXML"; rdfs:comment "REVERSE-I is a Canadian multicentric prospective study which enrolled 646 patients between 2001 and 2006 after their first episode of VTE." . _:1d212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90572747"; "Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes."; "PMID:40811855", "https://www.medrxiv.org/content/early/2024/12/03/2024.12.02.24317788.source.xml"; rdfs:comment "The recurrent VT GWAS meta-analysis included eight studies with confirmed unrelated VT cases of European ancestry free of cancer history: EDITH, FHS, HVH (HVH1 and HVH23), MARTHA, MEGA, PADIS-PE and REVERSE-I (Supplementary Material)." . _:1d222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort of 646 patients with a first unprovoked major venous thromboembolism, enrolled from 12 tertiary care centres in 4 countries while on oral anticoagulation 5–7 months after the event and followed after stopping anticoagulation (to September 2006), to derive a clinical decision rule identifying patients at low risk of recurrent venous thromboembolism."; "PMID:18725614", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13240746/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 665; "participants enrolled October 2001 to March 2006"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2518177/"; rdfs:comment "Between October 2001 and March 2006, we enrolled 665 participants." . _:1d242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REVERSE"; . _:1d252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REVERSE I"; . _:1d262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REVERSE-I"; . a owl:NamedIndividual, ; , ; "GCST90131442"; "A single-centre longitudinal family cohort of 4,295 people from 1,006 families of the Lorraine region, recruited in 1993–1995 at the Center for Preventive Medicine in Nancy, France, and re-examined over about 20 years, to study the familial and genetic determinants of cardiovascular and metabolic traits."; 4295; "SFS", "STANISLAS", "STANISLAS Family Study", "STANISLAS cohort", "STANISLAS study", "STANISLAS study cohort"; ; rdfs:label "Suivi Temporaire Annuel Non-Invasif de la Santé des Lorrains Assurés Sociaux"@en . _:1d272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9238600/fullTextXML"; rdfs:comment "The STANISLAS study cohort is a single‐center longitudinal cohort recruited between 1993 and 1995 at the Center for Preventive Medicine in Nancy, France, composed of 1006 families with 4295 subjects." . _:1d282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90131442"; "Weak Association Between Genetic Markers of Hyperuricemia and Cardiorenal Outcomes: Insights From the STANISLAS Study Cohort With a 20-Year Follow-Up."; "PMID:35470676", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35470676+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Methods and Results The STANISLAS (Suivi Temporaire Annuel Non-Invasif de la Santé des Lorrains Assurés Sociaux) study cohort is a single-center longitudinal cohort recruited between 1993 and 1995 (visit 1), with a last visit (visit 4 [V4]) performed ≈20 years apart." . _:1d292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre longitudinal family cohort of 4,295 people from 1,006 families of the Lorraine region, recruited in 1993–1995 at the Center for Preventive Medicine in Nancy, France, and re-examined over about 20 years, to study the familial and genetic determinants of cardiovascular and metabolic traits."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9238600/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4295; "subjects in 1006 families recruited 1993-1995"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9238600/fullTextXML"; rdfs:comment "The STANISLAS study cohort is a single‐center longitudinal cohort recruited between 1993 and 1995 at the Center for Preventive Medicine in Nancy, France, composed of 1006 families with 4295 subjects." . _:1d2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SFS"; . _:1d2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STANISLAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7731; , ; ; "GCST90909152"; "A cohort of 4,549 self-identified American Indian adults aged 45 years or older, recruited in 1989–1991 from tribal communities in Arizona, Oklahoma, North Dakota and South Dakota, United States, and followed through repeated examinations to estimate cardiovascular disease rates and risk factors in American Indians."; 4549; "SHS"; ; rdfs:label "Strong Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7731; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11904716/fullTextXML"; rdfs:comment "A study of cardiovascular disease in American Indians: design and methods." . _:1d2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11904716/fullTextXML"; rdfs:comment "This genetic association study used data from the SHS, a large, well-characterized cohort of 4549 self-identified American Indian adults aged 45 years or older, who were recruited from tribal communities in Arizona, Oklahoma, North Dakota, and South Dakota (1989-1991).9 The SHS cohort has completed 3 clinical examinations (phase I, 1989-1991; phase II, 1993-1995; and phase III, 1998-1999) and has collected comprehensive data on clinical, lifestyle, and physical measures, as well as medications at each clinical visit, using standardized protocols." . _:1d2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90909152"; "Polygenic Scores of Cardiometabolic Risk Factors in American Indian Adults."; "PMID:40072435", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40072435+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Strong Heart Study (SHS) is a large American Indian cohort recruited from 1989 to 1991, with ongoing follow-up (phase VII)." . _:1d302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of 4,549 self-identified American Indian adults aged 45 years or older, recruited in 1989–1991 from tribal communities in Arizona, Oklahoma, North Dakota and South Dakota, United States, and followed through repeated examinations to estimate cardiovascular disease rates and risk factors in American Indians."; "PMID:40072435"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4549; "American Indian adults aged 45+ recruited 1989-1991"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11904716/fullTextXML"; rdfs:comment "This genetic association study used data from the SHS, a large, well-characterized cohort of 4549 self-identified American Indian adults aged 45 years or older, who were recruited from tribal communities in Arizona, Oklahoma, North Dakota, and South Dakota (1989-1991)." . _:1d322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7738; , ; "GCST90188370"; "A stroke study in which 1,200 black and 1,200 white stroke patients were prospectively recruited between 1999 and 2010 from three hospitals covering a contiguous area of South London, United Kingdom, with black African and African Caribbean community controls from general practice lists in the same catchment area (1999–2012), to study stroke subtypes and the genetic and other risk factors for stroke in African and African Caribbean people."; "SLESS"; ; rdfs:label "South London Ethnicity and Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7738 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7738; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4873985/fullTextXML"; rdfs:comment "The SLESS is a prospective study that recruited 1200 consecutive black patients with stroke from a contiguous geographical area in South London in the UK, covered by three acute hospitals (Guy’s and St Thomas’ Hospitals, King’s College Hospital, and St George’s Hospital)." . _:1d342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27197724+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Exploring the differences in aetiological stroke subtypes, and the extent to which they are explained by conventional and novel risk factors, is an important step in elucidating the underlying mechanisms for this increased stroke risk.MethodsBetween 1999 and 2010, 1200 black and 1200 white stroke patients were prospectively recruited from a contiguous geographical area in South London in the UK." . _:1d352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90188370"; "Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke."; "PMID:36240095", "https://cdn-links.lww.com/permalink/wnl/c/wnl_2022_08_08_mitchell_1_sdc1.pdf"; rdfs:comment "The South London Ethnicity and Stroke Study (SLESS) is a prospective study begun in 1999 that has recruited consecutive black patients with stroke from a contiguous catchment area covered by 3 hospitals in South London" . _:1d362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A stroke study in which 1,200 black and 1,200 white stroke patients were prospectively recruited between 1999 and 2010 from three hospitals covering a contiguous area of South London, United Kingdom, with black African and African Caribbean community controls from general practice lists in the same catchment area (1999–2012), to study stroke subtypes and the genetic and other risk factors for stroke in African and African Caribbean people."; "PMID:27197724", "PMID:28349126"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLESS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7744; , ; "GCST90104462"; "A collection of nuclear families, each ascertained through a proband with receptive and/or expressive language skills more than 1.5 SD below the age norm, gathered by the SLI Consortium from five clinical and epidemiological sites across the United Kingdom for linkage and association studies of specific language impairment."; 840; "SLI Consortium", "SLI Consortium Cohort", "SLIC"; ; rdfs:label "SLI Consortium cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7744 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7744; "specific language impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2725236/fullTextXML"; rdfs:comment "SLIC families were all selected on the basis of a single proband with receptive and/or expressive language skills more than 1.5 SD below the normative mean for his or her age." . _:1d392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2725236/fullTextXML"; rdfs:comment "This nuclear-family cohort was collected from five sites across the UK (The Newcomen Centre at Guy's Hospital, London; the Cambridge Language and Speech Project (CLASP)13; the Child Life and Health Department at the University of Edinburgh14; the Department of Child Health at the University of Aberdeen; and the Manchester Language Study15,16) and included the families in whom the SLI1 linkage was originally identified." . _:1d3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The SLI Consortium was funded by Wellcome Trust Grant 076566 and UK Medical Research Council Grant G1000569." . _:1d3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of nuclear families, each ascertained through a proband with receptive and/or expressive language skills more than 1.5 SD below the age norm, gathered by the SLI Consortium from five clinical and epidemiological sites across the United Kingdom for linkage and association studies of specific language impairment."; "PMID:19646677"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 840; "individuals in 184 nuclear families (waves 1 and 2), 2004"; "PMID:15133743"; rdfs:comment "Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs)." . _:1d3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7751, _:genid-371333f489424440b12a13b9d98ced822608-genid7753; , ; "GCST90296729"; "A case-control study of testicular germ cell tumours among US military servicemen aged 18–45 with serum stored in the Department of Defense Serum Repository, comparing men diagnosed on active duty in 2002–2005 with matched controls to study environmental, endocrine and genetic risk factors."; 767; 928; "NCI United States Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study", "STEED", "The US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study"; ; rdfs:label "US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7751 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7753 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7751; "testicular germ cell tumours"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314781/fullTextXML"; rdfs:comment "Men who developed TGCT while on active duty were eligible to participate as cases, whereas men who did not develop TGCT were eligible to participate as controls." . _:1d3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7753; "environmental determinants of testicular germ cell tumours"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22343618+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "using existing data from the US Servicemen's Testicular Tumor Environmental and Endocrine Determinants (STEED) case-control study" . _:1d402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314781/fullTextXML"; rdfs:comment "Briefly, men between 18 and 45 years of age who had at least one serum sample stored in the US Department of Defense Serum Repository (DoDSR, Silver Spring, MD, USA) were eligible for the study." . _:1d412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://ars.els-cdn.com/content/image/1-s2.0-S030228382302780X-mmc3.xlsx"; rdfs:comment "The US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study (STEED)" . _:1d422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of testicular germ cell tumours among US military servicemen aged 18–45 with serum stored in the Department of Defense Serum Repository, comparing men diagnosed on active duty in 2002–2005 with matched controls to study environmental, endocrine and genetic risk factors."; "PMID:22343618"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 767; "TGCT cases and matched controls enrolled 2002-2005 (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314781/fullTextXML"; rdfs:comment "Eligible controls (n=928) were individually matched to cases (n=767) based on age at diagnosis (within 1 year), ethnicity (white, black and other) and date when serum was donated (within 30 days)." . _:1d442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 928; "TGCT cases and matched controls enrolled 2002-2005 (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3314781/fullTextXML"; rdfs:comment "Eligible controls (n=928) were individually matched to cases (n=767) based on age at diagnosis (within 1 year), ethnicity (white, black and other) and date when serum was donated (within 30 days)." . _:1d452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STEED"; . a owl:NamedIndividual, ; ; , ; ; "GCST90094399"; "A population-based study of residents of the municipality of Tromsø, Norway, run by UiT The Arctic University of Norway, begun in 1974 and repeated in seven surveys (Tromsø1–Tromsø7) that together enrolled 45,473 people, as a multipurpose health survey of chronic diseases and their risk factors."; 45473; "The Tromso Study", "The Tromsø Study", "Tromso", "Tromso Study"; ; rdfs:label "Tromsø Study"@en . _:1d462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12184346/fullTextXML"; rdfs:comment "The Tromsø Study is a population-based study conducted in 1974 in the municipality of Tromsø, Norway.17 It consists of seven waves, known as Tromsø1 through Tromsø7, and a total of 45 473 people attended one or more surveys." . _:1d472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094399"; "Elevated plasma concentration of complement factor C5 is associated with risk of future venous thromboembolism."; "PMID:34339498", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34339498+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We wanted to investigate (1) whether plasma complement component C5 (C5) levels are influenced by genetic variants or chronic inflammation and (2) the association between plasma C5 and risk of future VTE in a nested case-control study of 415 patients with VTE and 848 age- and sex-matched controls derived from the Tromsø Study." . _:1d482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of residents of the municipality of Tromsø, Norway, run by UiT The Arctic University of Norway, begun in 1974 and repeated in seven surveys (Tromsø1–Tromsø7) that together enrolled 45,473 people, as a multipurpose health survey of chronic diseases and their risk factors."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12184346/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 45473; "people who attended one or more of Tromsø1-Tromsø7 (1974-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12184346/fullTextXML"; rdfs:comment "It consists of seven waves, known as Tromsø1 through Tromsø7, and a total of 45 473 people attended one or more surveys." . _:1d4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tromso"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7766; , ; ; "GCST90296729"; "A hospital-based case-control study of bladder cancer in Texas, United States, with newly diagnosed, previously untreated cases recruited at the University of Texas MD Anderson Cancer Center and Baylor College of Medicine and matched controls, used for genome-wide and pathway studies of bladder cancer susceptibility."; "The acronym HBCS also denotes Helsinki Birth Cohort Study (COHO:0000445); this term is Texas Bladder Cancer Study."@en; 497; 957; "HBCS", "Houston Bladder Cancer Study", "TXBCS"; ; rdfs:label "Texas Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7766 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7766; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526593/fullTextXML"; rdfs:comment "Cases (n = 497) and controls (n = 957) in the Texas Bladder Cancer Study (TXBCS) who had been genotyped using a Genome-Wide Association panel were derived from an ongoing hospital-based bladder cancer case-control study [21]." . _:1d4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526593/fullTextXML"; rdfs:comment "Cases were newly diagnosed, histologically confirmed and previously untreated incident bladder cases recruited from the University of Texas MD Anderson Cancer Center and Baylor College of Medicine." . _:1d4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://ars.els-cdn.com/content/image/1-s2.0-S030228382302780X-mmc3.xlsx"; rdfs:comment "Texas GWAS (Texas Bladder Cancer Study 1, TXBCS1)" . _:1d4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer in Texas, United States, with newly diagnosed, previously untreated cases recruited at the University of Texas MD Anderson Cancer Center and Baylor College of Medicine and matched controls, used for genome-wide and pathway studies of bladder cancer susceptibility."; "PMID:23284679"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 497; "GWAS-genotyped subset: cases and controls (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526593/fullTextXML"; rdfs:comment "Cases (n = 497) and controls (n = 957) in the Texas Bladder Cancer Study (TXBCS) who had been genotyped using a Genome-Wide Association panel were derived from an ongoing hospital-based bladder cancer case-control study [21]." . _:1d502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 957; "GWAS-genotyped subset: cases and controls (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526593/fullTextXML"; rdfs:comment "Cases (n = 497) and controls (n = 957) in the Texas Bladder Cancer Study (TXBCS) who had been genotyped using a Genome-Wide Association panel were derived from an ongoing hospital-based bladder cancer case-control study [21]." . _:1d512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBCS"; . _:1d522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TXBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7775; , , , , , , ; , , , , , ; "GCST90429846"; "A consortium of breast cancer genetic association studies in women of Asian ancestry, with studies in mainland China, Taiwan, South Korea and Japan (genome-wide data on about 24,000 cases and 25,000 controls by 2020), formed to discover breast cancer susceptibility loci in Asian populations."; 82000; "ABCC"; ; rdfs:label "Asia Breast Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7775 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7775; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/fullTextXML"; rdfs:comment "Briefly, in the ABCC, genome-wide SNP data were generated from 24,206 breast cancer cases and 24,775 unaffected controls recruited from studies conducted in mainland China, South Korea, and Japan (Supplementary Table 1)." . _:1d542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/fullTextXML"; rdfs:comment "Studies conducted among Asian women include (Principal Investigator, grant support): the Shanghai Breast Cancer Study (W.Z. and X.-O.S., R01CA064277)" . _:1d552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "The SeBCS has been described above, which also contributed samples to ABCC." . _:1d562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6838373/fullTextXML"; rdfs:comment "For studies participating in the ABCC, the BBJ1 was supported by the Ministry of Education, Culture, Sports, Sciences and Technology from the Japanese Government. The SeBCS was supported by the BRL (Basic Research Laboratory) program through the National Research Foundation of Korea, funded by the Ministry of Education, Science and Technology (2011-0001564). The biospecimens and data of the Hwasun Cancer Epidemiology Study-Breast were provided by the Biobank of Chonnam National University Hwasun Hospital, a member of the Korea Biobank Network (07SA2014020)." . _:1d572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "The SBCGS has been described above, which also contributed samples to ABCC" . _:1d582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2891809/"; rdfs:comment "Participating studies (Principal Investigator, grant support) in the consortium are as follows: the Shanghai Breast Cancer Study (WZ, R01CA64277), the Shanghai Breast Cancer Survival Study (X-OS, R01CA118229)" . _:1d592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8075208/fullTextXML"; rdfs:comment "SGBCC contributed to BCAC and the Asian Breast Cancer Consortium, S3 Table presents three of the recent works where SGBCC had notable contributions [26, 30, 31]." . _:1d5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2891809/fullTextXML"; rdfs:comment "Participating studies (Principal Investigator, grant support) in the consortium are as follows: the Shanghai Breast Cancer Study (WZ, R01CA64277), the Shanghai Breast Cancer Survival Study (X-OS, R01CA118229), the Shanghai Endometrial Cancer Study (X-OS, R01CA92585, contributing only controls to the consortium), the Nashville Breast Health Study (WZ, R01CA100374), the Tianjin Study (KC, the National Natural Science Foundation of China Grant No. 30771844)" . _:1d5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/fullTextXML"; rdfs:comment "Briefly, in the ABCC, genome-wide SNP data were generated from 24,206 breast cancer cases and 24,775 unaffected controls recruited from studies conducted in mainland China, South Korea, and Japan (Supplementary Table 1)." . _:1d5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90429846"; "Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions."; "PMID:39753771", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-024-02031-y/MediaObjects/41588_2024_2031_MOESM1_ESM.pdf"; rdfs:comment "Asia Breast Cancer Consortium (ABCC) Studies conducted among Asian women include (Principal Investigator, grant support): the Shanghai Breast Cancer Study (W.Z. and X.-O.S., R01CA064277)" . _:1d5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of breast cancer genetic association studies in women of Asian ancestry, with studies in mainland China, Taiwan, South Korea and Japan (genome-wide data on about 24,000 cases and 25,000 controls by 2020), formed to discover breast cancer susceptibility loci in Asian populations."; "PMID:20585626", "PMID:32139696", "PMID:39753771"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 82000; "Asian women (approx.) in the 2020 ABCC+BCAC meta-analysis, GWAS plus replication"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/fullTextXML"; rdfs:comment "To search for novel breast cancer susceptibility loci, we conducted Asian-specific and cross-ancestry meta-analyses combining the data of the ABCC and the Breast Cancer Association Consortium (BCAC) with a total sample size of approximately 310,000 women (~82,000 Asians and ~228,000 Europeans)." . _:1d5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7789; ; "GCST90624411"; "A consortium of cohort and case-control studies with genome-wide genotype data that pools them in meta-analyses of genome-wide association studies of atrial fibrillation, to identify genetic loci for atrial fibrillation; together with the Broad AF Study, its studies formed the majority of the 2018 multi-ethnic meta-analysis of more than half a million individuals."; 65446; "AFGen", "AFGen Consortium", "Atrial Fibrillation Genetics (AFGen) consortium"; ; rdfs:label "Atrial Fibrillation Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7789 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7789; "atrial fibrillation"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6136836/unicode"; rdfs:comment "Participants were collected from both case-control studies for atrial fibrillation (AF) and population based studies." . _:1d612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3843/MediaObjects/41588_2017_BFng3843_MOESM307_ESM.pdf"; rdfs:comment "The meta-analyses described in this manuscript included the following studies described elsewhere: The Age, Gene/Environment Susceptibility Study (AGES) Reykjavik study169 , the Atrial Fibrillation Biobank LMU (AFLMU) in the context of the Arrhythmia-Biobank-LMU (formerly known as AFNET) and the Cooperative Health Research in the Region of Augsburg (KORA)169" . _:1d622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624411"; "Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation."; "PMID:40645996", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12254421/fullTextXML"; rdfs:comment "Eight studies (the Nord-Trøndelag Health Study [HUNT], deCODE, DiscoverEHR, Michigan Genomics Initiative [MGI], AFGen consortium4, FinnGen R12, Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research [SIMPLER, https://www.simpler4health.se/], and Million Veteran Program[MVP]) contributed to the discovery analysis for the European GWAS, comprising 192,851 atrial fibrillation (AF) cases and 1,239,541 controls6,41,42." . _:1d632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of cohort and case-control studies with genome-wide genotype data that pools them in meta-analyses of genome-wide association studies of atrial fibrillation, to identify genetic loci for atrial fibrillation; together with the Broad AF Study, its studies formed the majority of the 2018 multi-ethnic meta-analysis of more than half a million individuals."; "PMID:29892015"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 65446; "AF cases in the 2018 multi-ethnic meta-analysis (AFGen + Broad AF + others); total only as 'more than half a million'"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6136836/unicode"; rdfs:comment "In sum, we identified a total of 97 distinct AF loci from 65,446 AF cases and more than 522,000 referents." . _:1d652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFGen"; . a owl:NamedIndividual, ; , , , ; "GCST90448086"; "A placebo-controlled randomized trial of daily low-dose aspirin in 19,114 community-dwelling adults aged 70 or over (65 or over for US minorities) in Australia and the United States without prior cardiovascular events, dementia or independence-limiting physical disability, followed as a cohort after the trial to study healthy ageing."; 19114; "ASPREE", "ASPREE trial", "Aspirin in Reducing Events in the Elderly", "The ASPirin in Reducing Events in the Elderly trial"; ; rdfs:label "ASPirin in Reducing Events in the Elderly"@en . _:1d662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12596486/fullTextXML"; rdfs:comment "The ASPREE was a large-scale placebo-controlled randomized trial (NCT01038583) of daily low-dose (100 mg) enteric-coated aspirin conducted in 19 114 adults aged over 70 years residing in Australia and the USA (≥ 65 years for US minorities) who had no prior cardiovascular events, dementia, or independence-limiting physical disability at trial enrolment.21 The median enrolment age of the cohort was 74 years [interquartile range (IQR) 72–78 ]." . _:1d672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448086"; "Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene."; "PMID:37929782", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37929782+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our discovery genome-wide association study of N=12 031 ASCVD event-free individuals from the ASPREE (Aspirin in Reducing Events in the Elderly) trial identified 2 independent variants, rs9939224 (P-8) and rs56156922 (P-6), in the CETP (cholesteryl ester transfer protein) gene." . _:1d682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A placebo-controlled randomized trial of daily low-dose aspirin in 19,114 community-dwelling adults aged 70 or over (65 or over for US minorities) in Australia and the United States without prior cardiovascular events, dementia or independence-limiting physical disability, followed as a cohort after the trial to study healthy ageing."; "PMID:40796244"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19114; "participants randomized in the trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12596486/fullTextXML"; rdfs:comment "Randomization was to daily low-dose aspirin or matching placebo for the 4.7 years of the trial.ResultsOf the 19 114 participants randomized (9525 aspirin, 9589 placebo), 15 668 without in-trial MACE consented to post-trial follow-up." . _:1d6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASPREE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7801, _:genid-371333f489424440b12a13b9d98ced822608-genid7803; ; , ; "GCST90239648"; "A prospective single-centre population-based study of community-dwelling elderly people without stroke or dementia, randomly selected from the community register of Graz, Austria, and enrolled between 1991 and 2004, examining the effects of vascular risk factors on brain structure and function in normal ageing."; "The acronym ASPS also denotes Austrian Stroke Prevention Family Study (COHO:0000858); this term is Austrian Stroke Prevention Study."@en; 1960; "ASPS"; ; rdfs:label "Austrian Stroke Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7801 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7803 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7801; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8751593/fullTextXML"; rdfs:comment "The ASPS is a prospective single-centre community-based study established in 1991 on the cerebral effects of vascular risk factors in the normal aged population of the city of Graz, Austria." . _:1d6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7803; "cerebrovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8751593/fullTextXML"; rdfs:comment "The ASPS is a prospective single-centre community-based study established in 1991 on the cerebral effects of vascular risk factors in the normal aged population of the city of Graz, Austria." . _:1d6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8064143/fullTextXML"; rdfs:comment "Randomly selected individuals from the community register of the city of Graz, Austria, were enrolled between 1991 and 2004." . _:1d6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239648"; "Genetic architecture of orbital telorism."; "PMID:34791242", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9071440/fullTextXML"; rdfs:comment "In short, we included 34 130 participants from four population-based studies, namely the UK Biobank (20) (N = 28 919), the Austrian Stroke Prevention Study (ASPS) (N = 183), the ASPS Family Study (ASPS-Fam) (21,22) (N = 302) and the Rotterdam Study (23,24) (N = 4726)." . _:1d6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective single-centre population-based study of community-dwelling elderly people without stroke or dementia, randomly selected from the community register of Graz, Austria, and enrolled between 1991 and 2004, examining the effects of vascular risk factors on brain structure and function in normal ageing."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8064143/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1960; "randomly selected subjects aged 50-75 recruited in the first 3-year enrolment period (1991-1994)"; "PMID:9139470"; rdfs:comment "The Austrian Stroke Prevention Study recruited 1960 randomly selected subjects aged 50 to 75 years during a 3-year period of enrollment." . _:1d712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7810, _:genid-371333f489424440b12a13b9d98ced822608-genid7812; , ; ; ; "GCST90271745"; "A family-based extension of the Austrian Stroke Prevention Study in Graz, Austria, for which ASPS participants and their first-degree relatives were invited between 2006 and 2013 (419 individuals from 176 families), examined with clinical history, neurological examination, brain MRI, laboratory tests, cognitive testing and vascular risk factor assessment to study the cerebral effects of vascular risk factors."; "The acronym ASPS also denotes Austrian Stroke Prevention Study (COHO:0000857); this term is Austrian Stroke Prevention Family Study."@en; 419; "ASPS", "ASPS Family Study", "ASPS-Fam"; ; rdfs:label "Austrian Stroke Prevention Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7810 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7812 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7810; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9467397/fullTextXML"; rdfs:comment "The ASPS-Fam is a prospective single-center community-based study on the cerebral effects of vascular risk factors in residents of the city of Graz, Austria, without clinical signs and symptoms of stroke and dementia and a normal neurological examination [7, 25]." . _:1d732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7812; "cerebrovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9467397/fullTextXML"; rdfs:comment "The ASPS-Fam is a prospective single-center community-based study on the cerebral effects of vascular risk factors in residents of the city of Graz, Austria, without clinical signs and symptoms of stroke and dementia and a normal neurological examination [7, 25]." . _:1d742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9467397/fullTextXML"; rdfs:comment "The ASPS-Fam is a prospective single-center community-based study on the cerebral effects of vascular risk factors in residents of the city of Graz, Austria, without clinical signs and symptoms of stroke and dementia and a normal neurological examination" . _:1d752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10030935/fullTextXML"; rdfs:comment "The Austrian Stroke Prevention Family Study (ASPS-Fam) cohort represents an extension of the prospective, population-based ASPS (Austrian Stroke Prevention Study) on the effects of vascular risk factors in normal aging." . _:1d762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271745"; "Evidence of polygenic regulation of the physiological presence of neurofilament light chain in human serum."; "PMID:36970523", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10030935/fullTextXML"; rdfs:comment "The Austrian Stroke Prevention Family Study (ASPS-Fam) cohort represents an extension of the prospective, population-based ASPS (Austrian Stroke Prevention Study) on the effects of vascular risk factors in normal aging." . _:1d772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based extension of the Austrian Stroke Prevention Study in Graz, Austria, for which ASPS participants and their first-degree relatives were invited between 2006 and 2013 (419 individuals from 176 families), examined with clinical history, neurological examination, brain MRI, laboratory tests, cognitive testing and vascular risk factor assessment to study the cerebral effects of vascular risk factors."; "PMID:34923481", "PMID:35951362"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 419; "ASPS participants and first-degree relatives included 2006-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9467397/fullTextXML"; rdfs:comment "A total of 419 individuals from 176 families were included in the study." . _:1d792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASPS"; . _:1d7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASPS-Fam"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7821, _:genid-371333f489424440b12a13b9d98ced822608-genid7823; , ; "GCST90007526"; "A randomized, double-blind, placebo-controlled trial of 2,919 people aged 65 and older with elevated homocysteine, recruited in 2008–2011 mainly through municipal registries around research centres in Rotterdam, Amsterdam and Wageningen, the Netherlands, testing whether two years of vitamin B12 and folic acid supplementation reduce osteoporotic fracture incidence."; 2919; "B Vitamins for the Prevention of Osteoporotic Fractures (B-PROOF) Trial", "B-PROOF", "B-PROOF study", "B-vitamins for the prevention of osteoporotic fractures", "BPROOF"; ; rdfs:label "B-Vitamins for the PRevention Of Osteoporotic Fractures"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7821 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7823 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7821; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "B-Vitamins for the PRevention Of Osteoporotic Fractures (BPROOF) study The B-PROOF study is a randomized, placebo-controlled, double-blind trial that studied the effect of vitamin B12 and folic acid supplementation on osteoporotic fractures in 2,919 people of 65 years or over, and having homocysteine levels of 12-50 µmol/L." . _:1d7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7823; "osteoporotic fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "B-Vitamins for the PRevention Of Osteoporotic Fractures (BPROOF) study The B-PROOF study is a randomized, placebo-controlled, double-blind trial that studied the effect of vitamin B12 and folic acid supplementation on osteoporotic fractures in 2,919 people of 65 years or over, and having homocysteine levels of 12-50 µmol/L." . _:1d7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22136481+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This large multi-center project is carried out by a consortium from the Erasmus MC (Rotterdam, the Netherlands), VUmc (Amsterdam, the Netherlands) and Wageningen University, (Wageningen, the Netherlands), the latter acting as coordinator.DiscussionTo our best knowledge, the B-PROOF study is the first intervention study in which the effect of vitamin B12 and folic acid supplementation on osteoporotic fractures is studied in a general elderly population." . _:1d7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "B-Vitamins for the PRevention Of Osteoporotic Fractures (BPROOF) study The B-PROOF study is a randomized, placebo-controlled, double-blind trial that studied the effect of vitamin B12 and folic acid supplementation on osteoporotic fractures in 2,919 people of 65 years or over" . _:1d7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind, placebo-controlled trial of 2,919 people aged 65 and older with elevated homocysteine, recruited in 2008–2011 mainly through municipal registries around research centres in Rotterdam, Amsterdam and Wageningen, the Netherlands, testing whether two years of vitamin B12 and folic acid supplementation reduce osteoporotic fracture incidence."; "PMID:22136481"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2919; "subjects aged 65+ with elevated homocysteine in the trial (2008-2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3266639/fullTextXML"; rdfs:comment "The intervention comprises a period of two years, and includes 2919 subjects, aged 65 years and older, independently living or institutionalized, with an elevated homocysteine concentration (≥ 12 μmol/L)." . _:1d812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "B-PROOF"; . _:1d822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BPROOF"; . a owl:NamedIndividual, ; ; , ; ; "GCST90565484"; "A pan-Canadian prospective cohort platform, established by the Canadian Partnership Against Cancer in June 2008 as the Canadian Partnership for Tomorrow Project, that federates regional cohorts (seven across ten provinces, among them CARTaGENE and the Ontario Health Study; 307,017 participants aged 30–74 from 8 provinces in five cohorts in its 2018 profile) with harmonized questionnaire, physical measurement and biosample data and linkage to administrative health databases, to study how genetics, behaviour and environment affect cancer and other chronic diseases."; 307017; "CPTP", "CanPath", "Canadian Partnership for Tomorrow Project"; , ; rdfs:label "Canadian Partnership for Tomorrow's Health"@en; rdfs:seeAlso . _:1d832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://canpath.ca/cohorts/"; rdfs:comment "Cohort Overview BC Generations Project Alberta’s Tomorrow Project Healthy Future Sask Manitoba Tomorrow Project Ontario Health Study CARTaGENE Atlantic PATH" . _:1d842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29891475+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Volunteer participants were recruited from the general Canadian population for a confederation of 5 regional cohorts." . _:1d852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565484"; "Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility."; "PMID:41558814", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13479210/fullTextXML"; rdfs:comment "Canadian Partnership for Tomorrow’s Health, China Kadoorie Biobank, Lifelines and UK Biobank." . _:1d862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pan-Canadian prospective cohort platform, established by the Canadian Partnership Against Cancer in June 2008 as the Canadian Partnership for Tomorrow Project, that federates regional cohorts (seven across ten provinces, among them CARTaGENE and the Ontario Health Study; 307,017 participants aged 30–74 from 8 provinces in five cohorts in its 2018 profile) with harmonized questionnaire, physical measurement and biosample data and linkage to administrative health databases, to study how genetics, behaviour and environment affect cancer and other chronic diseases."; "PMID:29891475", "https://canpath.ca/about/", "https://canpath.ca/cohorts/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 307017; "participants aged 30-74 recruited across 5 regional cohorts (2018 profile)"; "PMID:29891475"; rdfs:comment "All participant data across the 5 regional cohorts were harmonized.ResultsA total of 307 017 participants aged 30-74 from 8 provinces were recruited." . _:1d882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPTP"; . _:1d892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CanPath"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7838, _:genid-371333f489424440b12a13b9d98ced822608-genid7840; , , ; "GCST90435134"; "A cohort of about 1,220 mainly vaccine-naive individuals with confirmed SARS-CoV-2 infection, across the full spectrum from asymptomatic to critical COVID-19, recruited early in the pandemic at 16 sites in Germany and South Tyrol, Italy, by a national host-genetics consortium built on the German COVID-19 Omics Initiative, with whole genome sequencing to study host genetic factors in COVID-19."; 1220; "DeCOI"; ; rdfs:label "DeCOI cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7838 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7840 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7838; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39715278+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we present the results of whole genome sequencing in 1,220 mainly vaccine-naïve individuals with confirmed SARS-CoV-2 infection, including 827 hospitalized COVID-19 cases." . _:1d8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7840; "SARS-CoV-2 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39715278+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we present the results of whole genome sequencing in 1,220 mainly vaccine-naïve individuals with confirmed SARS-CoV-2 infection, including 827 hospitalized COVID-19 cases." . _:1d8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11706450/fullTextXML"; rdfs:comment "For the host genetic analyses participants were recruited at 16 different sites, 15 of which were situated in Germany, and one in the German-speaking region of Italy (South Tyrol), from individual COVID-19 studies that were being conducted at the respective institutions." . _:1d8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435134"; "Systematic assessment of COVID-19 host genetics using whole genome sequencing data."; "PMID:39715278", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11706450/fullTextXML"; rdfs:comment "Following quality control (see Methods), the DeCOI cohort comprised 1,220 individuals from across the entire phenotypic spectrum of SARS-CoV-2 infections (Figs 1A–1C and S1)." . _:1d8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of about 1,220 mainly vaccine-naive individuals with confirmed SARS-CoV-2 infection, across the full spectrum from asymptomatic to critical COVID-19, recruited early in the pandemic at 16 sites in Germany and South Tyrol, Italy, by a national host-genetics consortium built on the German COVID-19 Omics Initiative, with whole genome sequencing to study host genetic factors in COVID-19."; "PMID:39715278"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1220; "SARS-CoV-2-positive individuals with WGS after quality control"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11706450/fullTextXML"; rdfs:comment "These analyses comprehensively characterize the joint contribution of variants of the entire allelic spectrum to severe COVID-19.ResultsThe DeCOI cohortFollowing quality control (see Methods), the DeCOI cohort comprised 1,220 individuals from across the entire phenotypic spectrum of SARS-CoV-2 infections (Figs 1A–1C and S1)." . _:1d902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DeCOI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7847; , , , , , , , , , , ; "GCST90399568"; "An international consortium of restless legs syndrome case collections recruited by expert clinicians in movement-disorder and sleep clinics in Europe, Canada and the United States, with ancestry-matched population or hospital controls, pooled (7,248 cases and 19,802 controls) for genome-wide association studies of restless legs syndrome."; 7248; 19802; "EU-RLS GENE", "EU-RLS-GENE", "International EU-RLS-GENE consortium"; ; rdfs:label "EU-RLS-GENE consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7847 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7847; "restless legs syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11176086/fullTextXML"; rdfs:comment "RLS cases were recruited in specialized outpatient clinics for movement disorders and in sleep clinics in European countries (Austria, Czech Republic, Estonia, Finland, France, Germany and Greece), Canada (Quebec) and the USA." . _:1d922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11176086/fullTextXML"; rdfs:comment "RLS cases were recruited in specialized outpatient clinics for movement disorders and in sleep clinics in European countries (Austria, Czech Republic, Estonia, Finland, France, Germany and Greece), Canada (Quebec) and the USA." . _:1d932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399568"; "Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction."; "PMID:38839884", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11176086/fullTextXML"; rdfs:comment "The first GWAS (EU-RLS-GENE) was conducted in affected individuals recruited by expert clinicians of the International EU-RLS-GENE consortium and ancestry-matched controls." . _:1d942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of restless legs syndrome case collections recruited by expert clinicians in movement-disorder and sleep clinics in Europe, Canada and the United States, with ancestry-matched population or hospital controls, pooled (7,248 cases and 19,802 controls) for genome-wide association studies of restless legs syndrome."; "PMID:38839884"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7248; "cases and controls in the EU-RLS-GENE GWAS of the 2024 meta-analysis (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11176086/fullTextXML"; rdfs:comment "International EU-RLS-GENE consortium (7,248 cases (2,479 males and 4,769 females) and 19,802 controls (10,422 males and 9,380 females))" . _:1d962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19802; "cases and controls in the EU-RLS-GENE GWAS of the 2024 meta-analysis (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11176086/fullTextXML"; rdfs:comment "International EU-RLS-GENE consortium (7,248 cases (2,479 males and 4,769 females) and 19,802 controls (10,422 males and 9,380 females))" . _:1d972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EU-RLS GENE"; . _:1d982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EU-RLS-GENE"; . a owl:NamedIndividual, ; , ; "GCST90104462"; "A Dutch family dataset of 483 children from 307 nuclear families and 505 adults, including parents, assessed for word and nonword reading fluency, phonological awareness and rapid automatized naming to study genetic influences on reading and language."; "FIOLA", "Familial Influences On Literacy Abilities", "Fiola"; ; rdfs:label "Familial Influences on Literacy Abilities"@en . _:1d992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27198479+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this study, we tested 17 of the most significantly associated single nucleotide polymorphisms (SNPs) from these GWAS studies (P < 10(-6) in the original studies) in a new independent population dataset from the Netherlands: known as Familial Influences on Literacy Abilities." . _:1d9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Familial Influences on Literacy Abilities cohort is supported by the University of Amsterdam, the Max Planck Institue Nijmegen, and NWO Grants Rubicon 446-12-005 and VENI 451-15-017." . _:1d9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch family dataset of 483 children from 307 nuclear families and 505 adults, including parents, assessed for word and nonword reading fluency, phonological awareness and rapid automatized naming to study genetic influences on reading and language."; "PMID:27198479"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1d9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIOLA"; . _:1d9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fiola"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7861, _:genid-371333f489424440b12a13b9d98ced822608-genid7863; , , , , , , , , , , , , ; , , , , , , , , ; ; "GCST90297562"; "An international consortium of lung cancer studies of never-smoking Asian women from mainland China, Hong Kong, Singapore, Taiwan, South Korea and Japan, pooling genome-wide data to identify genetic risk factors for lung cancer, particularly adenocarcinoma, in this population."; 5510; 4544; "FLCCA", "the Female Lung Cancer Consortium in Asia"; ; rdfs:label "Female Lung Cancer Consortium in Asia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7861 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7863 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1d9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7861; "lung adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10220065/fullTextXML"; rdfs:comment "The individual genotype data for the FLCCA data are in dbGaP phs000716.v1.p1 (Genome-Wide Association Study of Lung Cancer Susceptibility in Never-Smoking Women in Asia)." . _:1d9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7863; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10220065/fullTextXML"; rdfs:comment "The individual genotype data for the FLCCA data are in dbGaP phs000716.v1.p1 (Genome-Wide Association Study of Lung Cancer Susceptibility in Never-Smoking Women in Asia)." . _:1da02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)" . _:1da12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Additional studies included in this GWAS are the Guangdong Study (GDS), the Hong Kong Study (HKS), the Japanese Female Lung Cancer Collaborative Study (JLCS)14 , the Chonnam National University Lung Cancer Study (CNULCS) Study15 , and the Yunnan Lung Cancer Study (YLCS)." . _:1da22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)3 , the Fudan Lung Cancer Study (FLCS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC)4 , the Genes and Environment in Lung Cancer, Singapore Study (GEL-S)5 , the South Korea Multi-Center Lung Cancer Study (SKLCS)6-8 , the Shenyang Lung Cancer Study (SLCS)9 , the Shanghai Women’s Health Cohort Study (SWHS)10, 11 , the Tianjin Lung Cancer Study (TLCS)12 , and the Wuhan lung cancer study (WLCS)13 ." . _:1da32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Additional studies included in this GWAS are the Guangdong Study (GDS), the Hong Kong Study (HKS), the Japanese Female Lung Cancer Collaborative Study (JLCS)14 , the Chonnam National University Lung Cancer Study (CNULCS) Study15 , and the Yunnan Lung Cancer Study (YLCS)." . _:1da42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)3 , the Fudan Lung Cancer Study (FLCS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC)4 , the Genes and Environment in Lung Cancer, Singapore Study (GEL-S)5 , the South Korea Multi-Center Lung Cancer Study (SKLCS)6-8 , the Shenyang Lung Cancer Study (SLCS)9 , the Shanghai Women’s Health Cohort Study (SWHS)10, 11 , the Tianjin Lung Cancer Study (TLCS)12 , and the Wuhan lung cancer study (WLCS)13 ." . _:1da52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)3 , the Fudan Lung Cancer Study (FLCS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC)4 , the Genes and Environment in Lung Cancer, Singapore Study (GEL-S)5 , the South Korea Multi-Center Lung Cancer Study (SKLCS)6-8 , the Shenyang Lung Cancer Study (SLCS)9 , the Shanghai Women’s Health Cohort Study (SWHS)10, 11 , the Tianjin Lung Cancer Study (TLCS)12 , and the Wuhan lung cancer study (WLCS)13 ." . _:1da62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Additional studies included in this GWAS are the Guangdong Study (GDS), the Hong Kong Study (HKS), the Japanese Female Lung Cancer Collaborative Study (JLCS)14 , the Chonnam National University Lung Cancer Study (CNULCS) Study15 , and the Yunnan Lung Cancer Study (YLCS)." . _:1da72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Additional studies included in this GWAS are the Guangdong Study (GDS), the Hong Kong Study (HKS), the Japanese Female Lung Cancer Collaborative Study (JLCS)14 , the Chonnam National University Lung Cancer Study (CNULCS) Study15 , and the Yunnan Lung Cancer Study (YLCS)." . _:1da82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5856088/"; rdfs:comment "11 study centres in the FLCCA contributed EGFR mutation status data (Supplementary Material, Table S2). These 11 study centres include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH), the Guangdong Study (GDS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC), the Hong Kong Study (HKS), the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC), the Japan National Cancer Center (NCC), the South Korea Multi-Center Lung Cancer Study (SKLCS- Korea University, Kyungpook University, Seoul National University Department of Preventive Medicine (SNUPM))" . _:1da92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)3 , the Fudan Lung Cancer Study (FLCS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC)4 , the Genes and Environment in Lung Cancer, Singapore Study (GEL-S)5 , the South Korea Multi-Center Lung Cancer Study (SKLCS)6-8 , the Shenyang Lung Cancer Study (SLCS)9 , the Shanghai Women’s Health Cohort Study (SWHS)10, 11 , the Tianjin Lung Cancer Study (TLCS)12 , and the Wuhan lung cancer study (WLCS)13 ." . _:1daa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)3 , the Fudan Lung Cancer Study (FLCS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC)4 , the Genes and Environment in Lung Cancer, Singapore Study (GEL-S)5 , the South Korea Multi-Center Lung Cancer Study (SKLCS)6-8 , the Shenyang Lung Cancer Study (SLCS)9 , the Shanghai Women’s Health Cohort Study (SWHS)10, 11 , the Tianjin Lung Cancer Study (TLCS)12 , and the Wuhan lung cancer study (WLCS)13 ." . _:1dab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "These studies include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH)3 , the Fudan Lung Cancer Study (FLCS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC)4 , the Genes and Environment in Lung Cancer, Singapore Study (GEL-S)5 , the South Korea Multi-Center Lung Cancer Study (SKLCS)6-8 , the Shenyang Lung Cancer Study (SLCS)9 , the Shanghai Women’s Health Cohort Study (SWHS)10, 11 , the Tianjin Lung Cancer Study (TLCS)12 , and the Wuhan lung cancer study (WLCS)13 ." . _:1dac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Additional studies included in this GWAS are the Guangdong Study (GDS), the Hong Kong Study (HKS), the Japanese Female Lung Cancer Collaborative Study (JLCS)14 , the Chonnam National University Lung Cancer Study (CNULCS) Study15 , and the Yunnan Lung Cancer Study (YLCS)." . _:1dad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13348699/fullTextXML"; rdfs:comment "FLCCA is an international consortium focusing on never-smoking Asian women, with participating studies from Mainland China, Hong Kong, Singapore, Taiwan, South Korea, and Japan." . _:1dae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90297562"; "Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population."; "PMID:37236969", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10220065/fullTextXML"; rdfs:comment "In the current study, we conducted a two-stage GWAS meta-analysis in EA populations using unpublished and previously published data from four studies: the Female Lung Cancer Consortium in Asia (FLCCA), Nanjing Lung Cancer Study (NJLCS)10,24, National Cancer Center Research Institute (NCC) and Aichi Cancer Center (ACC), with 11,753 cases and 30,562 controls in the discovery set and 9905 cases and 120,114 controls in the replication set." . _:1daf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of lung cancer studies of never-smoking Asian women from mainland China, Hong Kong, Singapore, Taiwan, South Korea and Japan, pooling genome-wide data to identify genetic risk factors for lung cancer, particularly adenocarcinoma, in this population."; "PMID:42152146"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1db02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5510; "never-smoking female cases and controls scanned in the 2012 FLCCA GWAS (no total stated)"; "PMID:23143601"; rdfs:comment "We scanned 5,510 never-smoking female lung cancer cases and 4,544 controls drawn from 14 studies from mainland China, South Korea, Japan, Singapore, Taiwan and Hong Kong." . _:1db12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4544; "never-smoking female cases and controls scanned in the 2012 FLCCA GWAS (no total stated)"; "PMID:23143601"; rdfs:comment "We scanned 5,510 never-smoking female lung cancer cases and 4,544 controls drawn from 14 studies from mainland China, South Korea, Japan, Singapore, Taiwan and Hong Kong." . _:1db22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLCCA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7884; , , , , , , , ; "GCST90428600"; "An international consortium of gout genetics research groups, named as a collective author of a genome-wide association analysis of gout in 2.6 million people, whose own case-control sample set (New Zealand/Ardea Biosciences/EuroGout: 4,713 people with self-reported clinically diagnosed gout or gout meeting the 1977 ARA classification criteria and 2,151 controls, of self-reported European ancestry) was genotyped for that study on the Illumina CoreExome array."; 120295; 2600000; "GlobalGout"; ; rdfs:label "GlobalGout Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7884 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1db32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7884; "gout"; "https://www.medrxiv.org/content/medrxiv/early/2022/11/29/2022.11.26.22281768.full.pdf"; rdfs:comment "Gout was defined according to self-reported diagnosis and/or use of urate-lowering medication, clinical diagnosis, and/or the American College of Rheumatology (ACR) gout classification criteria122,123 dependent on the information available in each source cohort." . _:1db42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.medrxiv.org/content/medrxiv/early/2022/11/29/2022.11.26.22281768.full.pdf"; rdfs:comment "GlobalGout obtained ethical approval from the following committees: the New Zealand Multiregional Ethics Committee (MEC05/10/130); the Northern Y Region Health Research Ethics Committee (Ngāti Porou Hauora Charitable Trust study; NTY07/07/074); Research and Ethics Committee, Repatriation General Hospital, South Australia (32/08); Research Ethics Committee, University of New South Wales; Ethikkommission, Technische Universität Dresden (EK 8012012); South East Scotland Research Ethics Committee (04/S1102/41); Commission Cantonale (VD) D'éthique de la Recherche sur l'être Humain, Université de Lausanne; Commissie Mensgebonden Onderzoek regio Arnhem—Nijmegen; Partners Health Care System Institutional Review Board." . _:1db52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428600"; "A genome-wide association analysis reveals new pathogenic pathways in gout."; "PMID:39406924", "https://www.nature.com/articles/s41588-024-01921-5"; rdfs:comment "GlobalGout Genetics Consortium" . _:1db62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of gout genetics research groups, named as a collective author of a genome-wide association analysis of gout in 2.6 million people, whose own case-control sample set (New Zealand/Ardea Biosciences/EuroGout: 4,713 people with self-reported clinically diagnosed gout or gout meeting the 1977 ARA classification criteria and 2,151 controls, of self-reported European ancestry) was genotyped for that study on the Illumina CoreExome array."; "PMID:39406924", "https://www.medrxiv.org/content/medrxiv/early/2022/11/29/2022.11.26.22281768/DC1/embed/media-1.xlsx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1db72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 120295; "people (approx., '2.6 million') in the 2024 gout GWAS the consortium co-authored; includes 23andMe, UK Biobank and other cohorts"; "https://www.nature.com/articles/s41588-024-01921-5"; rdfs:comment "Here, we provide insights into the molecular mechanism of the poorly understood inflammatory component of gout from a genome-wide association study (GWAS) of 2.6 million people, including 120,295 people with prevalent gout." . _:1db82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2600000; "people (approx., '2.6 million') in the 2024 gout GWAS the consortium co-authored; includes 23andMe, UK Biobank and other cohorts"; "https://www.nature.com/articles/s41588-024-01921-5"; rdfs:comment "Here, we provide insights into the molecular mechanism of the poorly understood inflammatory component of gout from a genome-wide association study (GWAS) of 2.6 million people, including 120,295 people with prevalent gout." . _:1db92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GlobalGout"; . a owl:NamedIndividual, ; , , ; "GCST90841456"; "A birth cohort in Singapore that enrolled 1468 pregnant women aged 18 years or over at their first-trimester dating scan at the two major public maternity units in 2009–2010 and follows the mothers and their children, to evaluate how early-life exposures influence later metabolic function, body composition and development."; 1468; "GUSTO", "GUSTO birth cohort", "Growing Up in Singapore Towards Healthy Outcomes", "Growing Up in Singapore Towards healthy Outcomes (GUSTO) mother-offspring cohort"; ; rdfs:label "Growing Up in Singapore Towards healthy Outcomes"@en . _:1dba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13234518/fullTextXML"; rdfs:comment "Pregnant women aged 18 years or older were recruited at their first trimester of pregnancy from two main public hospitals in Singapore between June 2009 and December 2010 (Soh et al., 2014)." . _:1dbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841456"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "GUSTO Growing Up in Singapore Towards Healthy Outcomes" . _:1dbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort in Singapore that enrolled 1468 pregnant women aged 18 years or over at their first-trimester dating scan at the two major public maternity units in 2009–2010 and follows the mothers and their children, to evaluate how early-life exposures influence later metabolic function, body composition and development."; "PMID:41829988"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1dbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1468; "pregnant women enrolled June 2009-September 2010 (2009-2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12986960/fullTextXML"; rdfs:comment "The study enrolled 1468 pregnant women at least 18 years of age between June 2009 and September 2010 attending their first trimester antenatal dating ultrasound scan clinic at Singapore’s two major public maternity units." . _:1dbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GUSTO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7897; , ; ; "GCST90267392"; "A case-control study of first-time colorectal adenoma among Caucasian, Japanese and Native Hawaiian adults on Oahu, Hawaii, United States, with cases from the Hawaii site of the PLCO screening trial and Kaiser Permanente Hawaii clinics (1995–2006) and controls with normal endoscopy, used to study risk factors for colorectal neoplasia."; 914; 1188; "HAS", "Hawaii CCS", "Hawaiian Adenoma Case-Control Study", "Hawaiian Adenoma Study"; ; rdfs:label "Hawaii Adenoma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7897 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1dbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7897; "colorectal adenoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20501760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We measured plasma C-peptide, a marker of insulin secretion, and IGF hormones in a case-control study of 554 pathologically confirmed, first-time adenoma cases and 786 controls with normal endoscopy among Caucasians, Japanese, and Native Hawaiians in Hawaii." . _:1dc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2882992/unicode"; rdfs:comment "Briefly, two flexible-sigmoidoscopy screening clinics were first used to recruit participants on Oahu, Hawaii." . _:1dc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://ndownloader.figshare.com/files/59870008"; rdfs:comment "Hawaii Adenoma Study" . _:1dc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of first-time colorectal adenoma among Caucasian, Japanese and Native Hawaiian adults on Oahu, Hawaii, United States, with cases from the Hawaii site of the PLCO screening trial and Kaiser Permanente Hawaii clinics (1995–2006) and controls with normal endoscopy, used to study risk factors for colorectal neoplasia."; "PMID:20501760"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1dc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 914; "analysed subset: adenoma cases and controls with DNA (no total or full enrolment stated)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC3836614/unicode" . _:1dc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1188; "analysed subset: adenoma cases and controls with DNA (no total or full enrolment stated)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC3836614/unicode" . _:1dc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAS"; . _:1dc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hawaii CCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7906; , ; ; "GCST90448084"; "A prospective registry of Black and White patients with heart failure enrolled within the Henry Ford Health System in Detroit, Michigan, from 2007 to 2015, with genotyping and pharmacy claims data, designed to discover ways to predict heart failure prognosis and responses to heart failure therapies."; 1700; "HF pharmacogenomic registry", "HFGR", "HFPGR"; ; rdfs:label "Henry Ford Heart Failure Pharmacogenomic Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7906 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1dc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7906; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10671316/fullTextXML"; rdfs:comment "The inclusion criteria were as follows: age ≥ 18 years; a diagnosis of HF using the Framingham Heart Study criteria [16]; and at least one documented LVEF < 50% measured via echocardiography, nuclear stress tests, or radionuclide blood pool imaging." . _:1dc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10671316/fullTextXML"; rdfs:comment "The registry began enrolling patients in October 2007, within the Henry Ford Health System in Detroit, MI, USA, and enrolment was completed in March 2015." . _:1dc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448084"; "Genome-Wide Association Study of Beta-Blocker Survival Benefit in Black and White Patients with Heart Failure with Reduced Ejection Fraction."; "PMID:38002962", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10671316/fullTextXML"; rdfs:comment "The discovery dataset came from a prospective HF pharmacogenomic registry (HFGR) designed to discover novel ways to predict HF prognoses and responses to HF therapies [9]." . _:1dca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective registry of Black and White patients with heart failure enrolled within the Henry Ford Health System in Detroit, Michigan, from 2007 to 2015, with genotyping and pharmacy claims data, designed to discover ways to predict heart failure prognosis and responses to heart failure therapies."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10671316/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1dcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1700; "heart failure patients enrolled (stated as more than 1700), 2017"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5679305/unicode"; rdfs:comment "The Henry Ford Heart Failure Pharmacogenomic registry has enrolled more than 1700 HF patients of any type and collected blood/plasma samples and detailed phenotypic information." . _:1dcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HFGR"; . _:1dcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HFPGR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7914; , ; "GCST90278188"; "A cohort of patients with hidradenitis suppurativa recruited at the University of North Carolina Department of Dermatology in the United States from August 2018 (753 patients by July 2021, later expanded to 986), providing clinical data and DNA for genetic association studies of the disease."; 986; "HS ProCARE", "Hidradenitis Suppurativa Program for Research and Care Excellence", "ProCARE", "Program for Research and Care Excellence"; ; rdfs:label "HS Program for Research and Care Excellence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1dce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7914; "hidradenitis suppurativa"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37494057+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This genetic association study recruited 753 patients with HS in the HS Program for Research and Care Excellence (HS ProCARE) at the University of North Carolina Department of Dermatology from August 2018 to July 2021." . _:1dcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37494057+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "However, the genetic understanding of HS is insufficient, and limited genome-wide association studies (GWASs) have been performed for HS, which have not identified significant risk loci.ObjectiveTo identify genetic variants associated with HS and to shed light on the underlying genes and genetic mechanisms.Design, setting, and participantsThis genetic association study recruited 753 patients with HS in the HS Program for Research and Care Excellence (HS ProCARE) at the University of North Carolina Department of Dermatology from August 2018 to July 2021." . _:1dd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90278188"; "Genetic Variants Associated With Hidradenitis Suppurativa."; "PMID:37494057", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37494057+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "However, the genetic understanding of HS is insufficient, and limited genome-wide association studies (GWASs) have been performed for HS, which have not identified significant risk loci.ObjectiveTo identify genetic variants associated with HS and to shed light on the underlying genes and genetic mechanisms.Design, setting, and participantsThis genetic association study recruited 753 patients with HS in the HS Program for Research and Care Excellence (HS ProCARE) at the University of North Carolina Department of Dermatology from August 2018 to July 2021." . _:1dd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with hidradenitis suppurativa recruited at the University of North Carolina Department of Dermatology in the United States from August 2018 (753 patients by July 2021, later expanded to 986), providing clinical data and DNA for genetic association studies of the disease."; "PMID:37494057", "PMID:40650879"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1dd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 986; "patients with hidradenitis suppurativa in the expanded study (2025)"; "PMID:40650879"; rdfs:comment "We expanded the HS ProCARE study to 986 patients and used METAL to conduct a GWAS meta-analysis across six studies (Table S1; see Supporting Information)." . _:1dd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HS ProCARE"; . _:1dd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProCARE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7922; , , , , , , ; ; "GCST90100218"; "A multicentre hospital-based case–control study of lung cancer coordinated by the International Agency for Research on Cancer in Romania, Hungary, Slovakia, Poland, Russia and the Czech Republic, whose genome-wide genotyped cases and controls form the IARC lung cancer GWAS used by international lung cancer consortia."; 1989; 2625; "Central Europe GWAS", "IARC", "IARC GWAS", "IARC lung cancer GWAS", "International Agency for Research on Cancer Study"; ; rdfs:label "IARC Multicenter Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1dd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7922; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607485/fullTextXML"; rdfs:comment "IARCd GWAS312 706 Central Europe18542453Romania, Hungary, Slovakia, Poland, Russia, Czech RepublicMulticenter hospital-based case–control" . _:1dd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607485/fullTextXML"; rdfs:comment "Romania, Hungary, Slovakia, Poland, Russia, Czech Republic" . _:1dd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90100218"; "Clonal Hematopoiesis Mutations in Patients with Lung Cancer Are Associated with Lung Cancer Risk Factors."; "PMID:34815255", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8815061/fullTextXML"; rdfs:comment "The INTEGRAL-ILCCO project includes a total of 1,059 lung cancer cases and 899 controls from four sites: Harvard School of Public Health (HSPH), International Agency for Research on Cancer (IARC), University of Liverpool, and Mount Sinai Hospital and Princess Margaret Hospital in Toronto (Supplementary Table S1; ref. 17)." . _:1dd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre hospital-based case–control study of lung cancer coordinated by the International Agency for Research on Cancer in Romania, Hungary, Slovakia, Poland, Russia and the Czech Republic, whose genome-wide genotyped cases and controls form the IARC lung cancer GWAS used by international lung cancer consortia."; "PMID:22899653"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1dd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1989; "lung cancer cases and controls in the central European GWAS (genotyped subset), 2008"; "PMID:18385738"; rdfs:comment "To identify genetic factors that modify disease risk, we conducted a genome-wide association study by analysing 317,139 single-nucleotide polymorphisms in 1,989 lung cancer cases and 2,625 controls from six central European countries." . _:1dda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2625; "lung cancer cases and controls in the central European GWAS (genotyped subset), 2008"; "PMID:18385738"; rdfs:comment "To identify genetic factors that modify disease risk, we conducted a genome-wide association study by analysing 317,139 single-nucleotide polymorphisms in 1,989 lung cancer cases and 2,625 controls from six central European countries." . _:1ddb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IARC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7930, _:genid-371333f489424440b12a13b9d98ced822608-genid7932, _:genid-371333f489424440b12a13b9d98ced822608-genid7934, _:genid-371333f489424440b12a13b9d98ced822608-genid7936, _:genid-371333f489424440b12a13b9d98ced822608-genid7938, _:genid-371333f489424440b12a13b9d98ced822608-genid7940; , , , , , , , , ; "GCST90310275"; "A multi-centre European population-based cohort of 16,228 children aged 2 to 9 years examined in 2007–2008 in Belgium, Cyprus, Estonia, Germany, Hungary, Italy, Spain and Sweden, with a community-based obesity-prevention intervention, followed into adolescence by the I.Family study to identify dietary and lifestyle risk factors for childhood overweight and metabolic disorders."; 16228; "IDEFICS", "IDEFICS study", "IDEFICS/I.Family", "IDEFICS/I.Family cohort"; ; rdfs:label "Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7930 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7932 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7934 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7936 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7938 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7940 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ddc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7930; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1ddd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7932; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1dde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7934; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1ddf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7936; "metabolic disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1de02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7938; "childhood overweight"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1de12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7940; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1de22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837508/fullTextXML"; rdfs:comment "At baseline (2007-08), 16 228 children aged 2-9.9 years from Belgium, Cyprus, Estonia, Germany, Hungary, Italy, Spain and Sweden were examined." . _:1de32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90310275"; "Genetic associations vary across the spectrum of fasting serum insulin: results from the European IDEFICS/I.Family children's cohort."; "PMID:37420130", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10473990/fullTextXML"; rdfs:comment "The European IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS)/I.Family cohort is a multi-centre population-based children’s study that aimed to identify risk factors for diet- and lifestyle-related diseases, with a focus on childhood overweight and metabolic disorders [14, 15]." . _:1de42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-centre European population-based cohort of 16,228 children aged 2 to 9 years examined in 2007–2008 in Belgium, Cyprus, Estonia, Germany, Hungary, Italy, Spain and Sweden, with a community-based obesity-prevention intervention, followed into adolescence by the I.Family study to identify dietary and lifestyle risk factors for childhood overweight and metabolic disorders."; "PMID:28040744", "PMID:37420130"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1de52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16228; "children aged 2-9.9 examined at baseline (2007-2008)"; "PMID:28040744"; rdfs:comment "The baseline examination (T0) between September 2007 and June 2008 included 16 228 children aged 2 to 9.9 years from eight European countries: Belgium, Cyprus, Estonia, Germany, Hungary, Italy, Spain and Sweden." . _:1de62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDEFICS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7947, _:genid-371333f489424440b12a13b9d98ced822608-genid7949, _:genid-371333f489424440b12a13b9d98ced822608-genid7951; , ; , ; "GCST90002228"; "A multiethnic cohort of over 1,600 Hispanic, non-Hispanic white and African American men and women aged 40–69 years with normal, impaired or diabetic glucose tolerance, recruited at four clinical centres in California, Texas and Colorado, United States, to study the relationships between directly measured insulin resistance, atherosclerosis and cardiovascular disease."; "The acronym IRAS also denotes Insulin Resistance Atherosclerosis Family Study (COHO:0000504); this term is Insulin Resistance Atherosclerosis Study."@en; 1625; "IRAS", "The Insulin Resistance Atherosclerosis Study"; ; rdfs:label "Insulin Resistance Atherosclerosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7947 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7949 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7951 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1de72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7947; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8680609+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Insulin Resistance Atherosclerosis Study (IRAS) is the first epidemiologic study designed to assess the relationships between insulin resistance, insulinemia, glycemia, other components of the insulin resistance syndrome, and prevalent cardiovascular disease (CVD) in a large multiethnic cohort." . _:1de82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7949; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8680609+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Insulin Resistance Atherosclerosis Study (IRAS) is the first epidemiologic study designed to assess the relationships between insulin resistance, insulinemia, glycemia, other components of the insulin resistance syndrome, and prevalent cardiovascular disease (CVD) in a large multiethnic cohort." . _:1de92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7951; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8680609+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Insulin Resistance Atherosclerosis Study (IRAS) is the first epidemiologic study designed to assess the relationships between insulin resistance, insulinemia, glycemia, other components of the insulin resistance syndrome, and prevalent cardiovascular disease (CVD) in a large multiethnic cohort." . _:1dea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2797988/fullTextXML"; rdfs:comment "Centers in San Antonio, Texas, and San Luis Valley, Colorado, recruited Hispanics from two ongoing population-based studies (the San Antonio Heart Study and the San Luis Valley Diabetes Study)." . _:1deb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002228"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The Insulin Resistance Atherosclerosis Study (IRAS) was supported by NIH grants HL047887, HL047889, HL047890, HL47902, DK085175 and DK118062." . _:1dec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiethnic cohort of over 1,600 Hispanic, non-Hispanic white and African American men and women aged 40–69 years with normal, impaired or diabetic glucose tolerance, recruited at four clinical centres in California, Texas and Colorado, United States, to study the relationships between directly measured insulin resistance, atherosclerosis and cardiovascular disease."; "PMID:19808919", "PMID:8680609"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ded2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1625; "participants in the baseline examination (1992-1994)"; "PMID:19808919"; rdfs:comment "A total of 1,625 individuals participated in the baseline IRAS examination (56% women), which occurred between October 1992 and April 1994." . _:1dee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IRAS"; . a owl:NamedIndividual, ; , ; ; "GCST90293093"; "A population-based biobank cohort of about 20,000 adults living in 19 zip codes around Marshfield, Wisconsin, United States, recruited by the Marshfield Clinic from 2002, who provided DNA, serum and plasma samples linked to their electronic medical records for genetic and gene–environment research."; 20000; "Marshfield", "Marshfield Clinic", "Marshfield Clinic Personalized Medicine Research Project", "Marshfield PMRP", "Marshfield Personalized Medicine Research Project Biobank", "PMRP"; ; rdfs:label "Personalized Medicine Research Project"@en . _:1def2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2908055/fullTextXML"; rdfs:comment "The Personalized Medicine Research Project is a population based cohort of approximately 20,000 individuals ages 18 and up residing within one of 19 zip codes surrounding Marshfield Wisconsin, USA, who have agreed to provide DNA, serum, and plasma samples to be linked with a dynamic medical record for research [26]." . _:1df02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90293093"; "Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm."; "PMID:37196047", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10191288/fullTextXML"; rdfs:comment "(b) The structured data-driven phenotyping algorithm was used in two eMERGE sites (Marshfield, Mount Sinai)." . _:1df12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based biobank cohort of about 20,000 adults living in 19 zip codes around Marshfield, Wisconsin, United States, recruited by the Marshfield Clinic from 2002, who provided DNA, serum and plasma samples linked to their electronic medical records for genetic and gene–environment research."; "PMID:20565774"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1df22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "adults in the population-based biobank cohort (approximately), 2010"; "PMID:20565774"; rdfs:comment "The Personalized Medicine Research Project is a population based cohort of approximately 20,000 individuals ages 18 and up residing within one of 19 zip codes surrounding Marshfield Wisconsin, USA, who have agreed to provide DNA, serum, and plasma samples to be linked with a dynamic medical record for research [26]." . _:1df32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Marshfield"; . _:1df42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMRP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7964, _:genid-371333f489424440b12a13b9d98ced822608-genid7966; , ; ; "GCST90239710", "PGS000740"; "A hospital-based case–control study of lung cancer at The University of Texas MD Anderson Cancer Center in Houston, Texas, of ever-smoking patients of European ancestry and frequency-matched ever-smoking controls, genotyped genome-wide to find lung cancer susceptibility loci and later pooled in international lung cancer consortia."; "The acronym MDACC also denotes MD Anderson Cancer Center melanoma study (COHO:0000875); this term is MD Anderson Cancer Center lung cancer study."@en, "The acronym MDACCS also denotes MD Anderson Cancer Center melanoma study (COHO:0000875), Prostate Cancer Case-Control Studies at MD Anderson (COHO:0002044), MD Anderson Ovarian Cancer Study (COHO:0002047) and MD Anderson Renal Cell Cancer Study (COHO:0002048); this term is MD Anderson Cancer Center lung cancer study."@en, "The name MD Anderson Cancer Center Study also denotes MD Anderson Cancer Center melanoma study (COHO:0000875); this term is MD Anderson Cancer Center lung cancer study."@en; 1154; 1137; "MD Anderson Cancer Center Lung Cancer Study", "MD Anderson Cancer Center Study", "MD Anderson Cancer Center lung cancer study (MDACC)", "MDACC", "MDACCLC", "MDACCS", "Texas", "Texas-GWA study"; , ; rdfs:label "MD Anderson Cancer Center lung cancer study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7964 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7966 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1df52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7964; "cigarette smoking (current and former smokers)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18385676+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the discovery phase, we analyzed 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of European ancestry and 1,137 frequency-matched, ever-smoking controls from Houston, Texas." . _:1df62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7966; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18385676+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify risk variants for lung cancer, we conducted a multistage genome-wide association study. In the discovery phase, we analyzed 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of European ancestry and 1,137 frequency-matched, ever-smoking controls from Houston, Texas." . _:1df72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18385676+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the discovery phase, we analyzed 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of European ancestry and 1,137 frequency-matched, ever-smoking controls from Houston, Texas." . _:1df82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239710"; "Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk."; "PMID:35138370", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9402242/fullTextXML"; rdfs:comment "Affymetrix Axiom Array Study, the Genetic Epidemiology of Lung Cancer Consortium, the Environment and Genetics in Lung cancer Etiology study, the International Agency for Research on Cancer, MD Anderson Cancer Center Study, NCI Lung Cancer and Smoking Phenotypes in African-American Cases and Controls (NCI), the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial and Samuel Lunenfeld Research Institute Study were combined together and used as replication dataset including 7378 lung cancer cases and 9503 controls (Table 1, Supplementary Material, Table S1) (44–47)." . _:1df92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:1dfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung cancer at The University of Texas MD Anderson Cancer Center in Houston, Texas, of ever-smoking patients of European ancestry and frequency-matched ever-smoking controls, genotyped genome-wide to find lung cancer susceptibility loci and later pooled in international lung cancer consortia."; "PMID:18385676"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1dfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1154; "ever-smoking lung cancer cases and controls in the GWAS discovery phase (genotyped subset), 2008"; "PMID:18385676"; rdfs:comment "In the discovery phase, we analyzed 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of European ancestry and 1,137 frequency-matched, ever-smoking controls from Houston, Texas." . _:1dfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1137; "ever-smoking lung cancer cases and controls in the GWAS discovery phase (genotyped subset), 2008"; "PMID:18385676"; rdfs:comment "In the discovery phase, we analyzed 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of European ancestry and 1,137 frequency-matched, ever-smoking controls from Houston, Texas." . _:1dfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACC"; . _:1dfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACCLC"; . _:1dff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACCS"; . _:1e002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Texas"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7978; , ; "GCST90103971"; "A hospital-based case–control study of cutaneous melanoma at The University of Texas MD Anderson Cancer Center, with non-Hispanic white patients and cancer-free controls (friends or acquaintances accompanying patients) recruited between 1998 and 2008, genotyped genome-wide to find melanoma susceptibility loci."; "The acronym MDACC also denotes MD Anderson Cancer Center lung cancer study (COHO:0000874); this term is MD Anderson Cancer Center melanoma study."@en, "The acronym MDACCS also denotes MD Anderson Cancer Center lung cancer study (COHO:0000874), Prostate Cancer Case-Control Studies at MD Anderson (COHO:0002044), MD Anderson Ovarian Cancer Study (COHO:0002047) and MD Anderson Renal Cell Cancer Study (COHO:0002048); this term is MD Anderson Cancer Center melanoma study."@en, "The name MD Anderson Cancer Center Study also denotes MD Anderson Cancer Center lung cancer study (COHO:0000874); this term is MD Anderson Cancer Center melanoma study."@en; 1804; 1026; "GENEVA Melanoma study", "HDAAM", "High Density SNP Association Analysis of Melanoma", "High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation", "MD Anderson Cancer Center Study", "MDACC", "MDACCS"; ; rdfs:label "MD Anderson Cancer Center melanoma study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7978 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7978; "cutaneous melanoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3298855/"; rdfs:comment "The study participants for the discovery analysis were from a hospital-based case–control study of CM, for which cases were recruited from non-Hispanic white patients and controls at MD Anderson between March 1998 and August 2008." . _:1e022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3298855/"; rdfs:comment "1), genotypes were available for 1804 Caucasian CM patients presenting to clinics (other than dermatology) at The University of Texas MD Anderson Cancer Center and 1026 Caucasian cancer-free controls who were friends or acquaintances accompanying patients at their clinical visits." . _:1e032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103971"; "Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma."; "PMID:34813871", "https://ars.els-cdn.com/content/image/1-s2.0-S0022202X21025136-mmc1.pdf"; rdfs:comment "US MDACC 1,924 1,018 Illumina Omni1M" . _:1e042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of cutaneous melanoma at The University of Texas MD Anderson Cancer Center, with non-Hispanic white patients and cancer-free controls (friends or acquaintances accompanying patients) recruited between 1998 and 2008, genotyped genome-wide to find melanoma susceptibility loci."; "PMID:21926416"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1804; "melanoma cases and controls in the GWAS discovery cohort (genotyped, after QC), 2011"; "PMID:21926416"; rdfs:comment "In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region)." . _:1e062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1026; "melanoma cases and controls in the GWAS discovery cohort (genotyped, after QC), 2011"; "PMID:21926416"; rdfs:comment "In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region)." . _:1e072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HDAAM"; . _:1e082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACC"; . _:1e092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACCS"; . a owl:NamedIndividual, ; , , ; "GCST90652518"; "A biobank at the National Center for Geriatrics and Gerontology in Obu, Japan, holding DNA samples and clinical data from tens of thousands of patients with dementia and other age-related conditions and cognitively normal older adults from the NCGG hospital and a neighbourhood cohort, used for genetic studies of dementia and ageing in the Japanese population."; 16000; "NCGG", "NCGG Biobank", "National Center for Geriatrics and Gerontology"; ; rdfs:label "National Center for Geriatrics and Gerontology Biobank"@en . _:1e0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11884146/fullTextXML"; rdfs:comment "All 6,324 genomic DNA samples and the associated clinical data were obtained from the National Center for Geriatrics and Gerontology (NCGG) Biobank, Japan." . _:1e0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90652518"; "A genome-wide association study identifies a novel East Asian-specific locus for dementia with Lewy bodies in Japanese subjects."; "PMID:40045203", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11884146/fullTextXML"; rdfs:comment "All 6,324 genomic DNA samples and the associated clinical data were obtained from the National Center for Geriatrics and Gerontology (NCGG) Biobank, Japan." . _:1e0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank at the National Center for Geriatrics and Gerontology in Obu, Japan, holding DNA samples and clinical data from tens of thousands of patients with dementia and other age-related conditions and cognitively normal older adults from the NCGG hospital and a neighbourhood cohort, used for genetic studies of dementia and ageing in the Japanese population."; "PMID:41951582"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16000; "hospital patients enrolled in the biobank (approximately), as of May 2025"; "https://www.ncgg.go.jp/research/biobank/"; rdfs:comment "As of May 2025, the Biobank has enrolled approximately 16,000 patients from hospitals and holds around 60,000 patient-derived samples, primarily serum and plasma, along with medical information and genomic data." . _:1e0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCGG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid7993, _:genid-371333f489424440b12a13b9d98ced822608-genid7995, _:genid-371333f489424440b12a13b9d98ced822608-genid7997, _:genid-371333f489424440b12a13b9d98ced822608-genid7999, _:genid-371333f489424440b12a13b9d98ced822608-genid8001; , ; "GCST90429686"; "A prospective multicentre US cohort of 10,038 nulliparous women with singleton pregnancies recruited in the first trimester at eight clinical sites between 2010 and 2013 and followed through pregnancy, to study the factors that contribute to adverse pregnancy outcomes such as preterm birth, preeclampsia and gestational diabetes."; 10038; "nuMoM2b"; ; rdfs:label "Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid7993 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7995 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7997 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid7999 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8001 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7993; "preterm birth"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076516/fullTextXML"; rdfs:comment "To better understand the mechanisms and improve prediction of APOs in nulliparous individuals, the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) consortium9,10 recruited and prospectively followed a large cohort of nulliparous people beginning in their first trimester of pregnancy." . _:1e102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7995; "preeclampsia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076516/fullTextXML"; rdfs:comment "To better understand the mechanisms and improve prediction of APOs in nulliparous individuals, the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) consortium9,10 recruited and prospectively followed a large cohort of nulliparous people beginning in their first trimester of pregnancy." . _:1e112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7997; "gestational diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076516/fullTextXML"; rdfs:comment "To better understand the mechanisms and improve prediction of APOs in nulliparous individuals, the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) consortium9,10 recruited and prospectively followed a large cohort of nulliparous people beginning in their first trimester of pregnancy." . _:1e122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid7999; "adverse pregnancy outcomes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076516/fullTextXML"; rdfs:comment "To better understand the mechanisms and improve prediction of APOs in nulliparous individuals, the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) consortium9,10 recruited and prospectively followed a large cohort of nulliparous people beginning in their first trimester of pregnancy." . _:1e132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8001; "pregnancy loss"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076516/fullTextXML"; rdfs:comment "To better understand the mechanisms and improve prediction of APOs in nulliparous individuals, the Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-to-Be (nuMoM2b) consortium9,10 recruited and prospectively followed a large cohort of nulliparous people beginning in their first trimester of pregnancy." . _:1e142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13511387/fullTextXML"; rdfs:comment "Briefly, the nuMoM2b study was a prospective multicenter cohort study of 10,038 pregnant individuals with singleton gestations recruited from eight clinical sites in the US." . _:1e152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90429686"; "Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas."; "PMID:38714721", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076516/fullTextXML"; rdfs:comment "The objective of this study was to test for association between common variants across the maternal genome and four APOs in the nuMoM2b cohort: gestational length (as a proxy for preterm birth), preeclampsia, gestational diabetes mellitus (GDM), and pregnancy loss." . _:1e162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre US cohort of 10,038 nulliparous women with singleton pregnancies recruited in the first trimester at eight clinical sites between 2010 and 2013 and followed through pregnancy, to study the factors that contribute to adverse pregnancy outcomes such as preterm birth, preeclampsia and gestational diabetes."; "PMID:38714721", "PMID:42557812"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10038; "nulliparous pregnant individuals enrolled in the first trimester (2010-2013)"; "PMID:38714721"; rdfs:comment "The study enrolled 10,038 nulliparous people from the first trimester of their pregnancy to participate in three study visits during pregnancy." . _:1e182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "nuMoM2b"; . a owl:NamedIndividual, ; , ; ; "GCST90053831"; "A population-based study of youths aged 8–21 living in the greater Philadelphia area, United States, recruited through the Children’s Hospital of Philadelphia Center for Applied Genomics from non-psychiatric paediatric clinics and assessed with clinical, neurocognitive and neuroimaging measures to describe how genetics affects brain development and cognitive functioning in adolescence."; 9428; "PNC"; ; rdfs:label "Philadelphia Neurodevelopmental Cohort"@en . _:1e192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12671915/fullTextXML"; rdfs:comment "The Philadelphia Neurodevelopmental Cohort (PNC) is a population-based study of youth living in the greater Philadelphia (United States) area (Calkins et al., 2015) that aims to describe how genetics impacts brain development and cognitive functioning in adolescents (Satterthwaite et al., 2014)." . _:1e1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8713563/fullTextXML"; rdfs:comment "All participants were recruited through the Center for Applied Genomics at The Children’s Hospital in Philadelphia." . _:1e1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90053831"; "Genetic and demographic predisposing factors associated with pediatric sleepwalking in the Philadelphia Neurodevelopmental Cohort."; "PMID:34563919", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34563919+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data from the Philadelphia Neurodevelopmental Cohort (PNC) of 7515 youths aged between 8 and 22 years were used in analyses." . _:1e1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of youths aged 8–21 living in the greater Philadelphia area, United States, recruited through the Children’s Hospital of Philadelphia Center for Applied Genomics from non-psychiatric paediatric clinics and assessed with clinical, neurocognitive and neuroimaging measures to describe how genetics affects brain development and cognitive functioning in adolescence."; "PMID:41287920"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9428; "youths aged 8-21 who completed the clinical and neurocognitive assessments (2006-2012)"; "PMID:41287920"; rdfs:comment "Overall, 19,161 individuals met the inclusion criteria; 9,428 (49.2%) of these completed clinical and neurocognitive assessments." . _:1e1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8014; , ; ; "PMID:26034056"; "A study within Kaiser Permanente Northern California that ascertained African-American prostate cancer cases, genotyped together with the Research Program on Genes, Environment and Health cohort and the California Men's Health Study for genome-wide association studies of prostate cancer."; "The acronym ProHealth also denotes ProHealth Kaiser GWAS (COHO:0000945); this term is ProHealth Study."@en; "ProHealth"; rdfs:label "ProHealth Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8014 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8014; "prostate cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Briefly, the ProHealth study focused on ascertaining KP Northern California African-American PCa cases." . _:1e202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Briefly, the ProHealth study focused on ascertaining KP Northern California African-American PCa cases." . _:1e212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26034056"; "A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences."; "PMID:26034056", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Briefly, the ProHealth study focused on ascertaining KP Northern California African-American PCa cases." . _:1e222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study within Kaiser Permanente Northern California that ascertained African-American prostate cancer cases, genotyped together with the Research Program on Genes, Environment and Health cohort and the California Men's Health Study for genome-wide association studies of prostate cancer."; "PMID:26034056"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProHealth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8020, _:genid-371333f489424440b12a13b9d98ced822608-genid8022, _:genid-371333f489424440b12a13b9d98ced822608-genid8024, _:genid-371333f489424440b12a13b9d98ced822608-genid8026, _:genid-371333f489424440b12a13b9d98ced822608-genid8028; , , , , , ; "GCST90435416"; "An international consortium, established in 2009, of cohorts of cancer patients treated with radiotherapy (for prostate, head and neck, breast and lung cancer, among others) that shares genotype and normal-tissue toxicity data and develops meta-analysis methods to identify genetic variants associated with radiation-induced toxicity."; 12042; "RGC", "Radiogenomic Consortium"; ; rdfs:label "Radiogenomics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8020 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8022 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8024 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8026 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8028 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8020; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "Therefore, we aimed to carry out a GWAS meta-analysis of radiation-induced toxicities across tissues among 19 cohorts totaling 12 042 patients representing 4 cancers (prostate, head and neck, breast, and lung) from the Radiogenomic Consortium (https://epi.grants.cancer.gov/radiogenomics/)." . _:1e252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8022; "head and neck cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "Therefore, we aimed to carry out a GWAS meta-analysis of radiation-induced toxicities across tissues among 19 cohorts totaling 12 042 patients representing 4 cancers (prostate, head and neck, breast, and lung) from the Radiogenomic Consortium (https://epi.grants.cancer.gov/radiogenomics/)." . _:1e262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8024; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "Therefore, we aimed to carry out a GWAS meta-analysis of radiation-induced toxicities across tissues among 19 cohorts totaling 12 042 patients representing 4 cancers (prostate, head and neck, breast, and lung) from the Radiogenomic Consortium (https://epi.grants.cancer.gov/radiogenomics/)." . _:1e272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8026; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "Therefore, we aimed to carry out a GWAS meta-analysis of radiation-induced toxicities across tissues among 19 cohorts totaling 12 042 patients representing 4 cancers (prostate, head and neck, breast, and lung) from the Radiogenomic Consortium (https://epi.grants.cancer.gov/radiogenomics/)." . _:1e282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8028; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "Therefore, we aimed to carry out a GWAS meta-analysis of radiation-induced toxicities across tissues among 19 cohorts totaling 12 042 patients representing 4 cancers (prostate, head and neck, breast, and lung) from the Radiogenomic Consortium (https://epi.grants.cancer.gov/radiogenomics/)." . _:1e292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "This study was done using cohorts involved in the Radiogenomics Consortium." . _:1e2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "This study was done using cohorts involved in the Radiogenomics Consortium." . _:1e2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "This study was done using cohorts involved in the Radiogenomics Consortium." . _:1e2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5036513/fullTextXML"; rdfs:comment "The four cohorts (RAPPER, RADIOGEN, Gene-PARE, and CCI) comprised individuals with adenocarcinoma of the prostate treated with radiotherapy with curative intent." . _:1e2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC12048210"; rdfs:comment "The RAPPER, RADIOGEN, GenePARE, UGhent, and CCI-EBRT Radiogenomics Consortium (RGC) cohorts included men with non-metastatic prostate cancer who received curative-intent external beam radiotherapy [EBRT], brachytherapy, or both, with or without surgery and/or anti-androgen therapy, described in published GWAS (15–17,20) and summarized in Table 1." . _:1e2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/supplementaryFiles"; rdfs:comment "REQUITE-PrCa | Prospective cohort | 2014-2016 | European (Multi-site) | 1348 | 70 (46-88) | 0 | CTCAE v4.0 and PRO questionnaire | End of RT | | 0.004 (0.494) | 31146072 | https://requite.eu/" . _:1e2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435416"; "Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types."; "PMID:37862240", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10653584/fullTextXML"; rdfs:comment "This study was done using cohorts involved in the Radiogenomics Consortium." . _:1e302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium, established in 2009, of cohorts of cancer patients treated with radiotherapy (for prostate, head and neck, breast and lung cancer, among others) that shares genotype and normal-tissue toxicity data and develops meta-analysis methods to identify genetic variants associated with radiation-induced toxicity."; "PMID:31095341", "PMID:35039627", "PMID:37862240"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12042; "radiotherapy patients in the 2023 cross-cancer GWAS meta-analysis of 19 cohorts"; "PMID:37862240"; rdfs:comment "Methods: A genome-wide association study meta-analysis was performed using 19 cohorts totaling 12042 patients." . _:1e322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8040, _:genid-371333f489424440b12a13b9d98ced822608-genid8042, _:genid-371333f489424440b12a13b9d98ced822608-genid8044, _:genid-371333f489424440b12a13b9d98ced822608-genid8046, _:genid-371333f489424440b12a13b9d98ced822608-genid8048; ; , ; , , ; "GCST90267392"; "A population-based case-control study in East Anglia, UK, run from Cambridge with Cancer Research UK funding, in which people with cancer registered with the Eastern Cancer Registration and Information Centre and controls attending general practice in East Anglia provide data and DNA to study genetic susceptibility to cancers including breast and prostate cancer."; "The acronym SEARCH also denotes SEARCH for Diabetes in Youth (COHO:0000882) and Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine (COHO:0002361); this term is Study of Epidemiology and Risk Factors in Cancer Heredity."@en; 14713; "SEARCH", "Studies of Epidemiology and Risk Factors in Cancer Heredity", "Study of Epidemiology and Risk factors in Cancer Heredity"; ; rdfs:label "Study of Epidemiology and Risk Factors in Cancer Heredity"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8040 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8044 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8046 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8048 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8040; "cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "SEARCH: Case-control - East Anglia, UK." . _:1e342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8042; "colorectal cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "SEARCH: Case-control - East Anglia, UK." . _:1e352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8044; "breast cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "SEARCH: Case-control - East Anglia, UK." . _:1e362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8046; "ovarian cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "SEARCH: Case-control - East Anglia, UK." . _:1e372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8048; "prostate cancer"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "SEARCH: Case-control - East Anglia, UK." . _:1e382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; rdfs:comment "SEARCH: Case-control - East Anglia, UK." . _:1e392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://ndownloader.figshare.com/files/59870008"; rdfs:comment "Studies of Epidemiology and Risk Factors in Cancer Heredity" . _:1e3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study in East Anglia, UK, run from Cambridge with Cancer Research UK funding, in which people with cancer registered with the Eastern Cancer Registration and Information Centre and controls attending general practice in East Anglia provide data and DNA to study genetic susceptibility to cancers including breast and prostate cancer."; "PMID:20520800", "PMID:25855707", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14713; "breast cancer case families (probands) in the SEARCH breast study only (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9606477/fullTextXML"; rdfs:comment "Material and methods Study sample The sample included 17,425 three-generation families ascertained via population-based sampling of breast cancer probands from two studies: 2,712 families from the population-based case-control family study within the Australian Breast Cancer Family Registry (ABCFR) and 14,713 families from the prospective Studies of Epidemiology and Risk Factors in Cancer Heredity (SEARCH) study in the UK." . _:1e3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEARCH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8055; , ; "GCST90013445"; "An observational multicentre study in the United States of physician-diagnosed diabetes in people under 20 years old, ascertaining prevalent and incident cases in geographically defined populations and health plans, with interviews, examinations and laboratory measurements, to estimate the prevalence, incidence and classification of diabetes in youth."; "The acronym SEARCH also denotes Study of Epidemiology and Risk Factors in Cancer Heredity (COHO:0000881) and Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine (COHO:0002361); this term is SEARCH for Diabetes in Youth."@en; 20000; "SEARCH", "SEARCH for Diabetes in Youth Study", "SEARCH-DY", "search"; ; rdfs:label "SEARCH for Diabetes in Youth"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8055 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8055; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15465616+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SEARCH for Diabetes in Youth is an observational, multicenter study focusing on physician-diagnosed diabetes in individuals <20 years old." . _:1e3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15465616+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "U.S. population) with wide ethnic and socioeconomic representation from four geographically defined populations and two health plans." . _:1e3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "The SEARCH for Diabetes in Youth Study (www.searchfordiabetes.org) is indebted to the many youth and their families, as well as their health care providers, whose participation made this study possible." . _:1e402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational multicentre study in the United States of physician-diagnosed diabetes in people under 20 years old, ascertaining prevalent and incident cases in geographically defined populations and health plans, with interviews, examinations and laboratory measurements, to estimate the prevalence, incidence and classification of diabetes in youth."; "PMID:15465616"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "study participants (stated as more than 20,000) on the study website"; "https://www.searchfordiabetes.org/"; rdfs:comment "There are more than 20,000 study participants representing all different racial and ethnic backgrounds who have helped SEARCH determine the extent of diabetes in the community and its impact on different populations." . _:1e422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEARCH"; . _:1e432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEARCH-DY"; . _:1e442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "search"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8064; , ; ; "GCST90281046"; "A biobank of the Swedish Rheumatology Quality Register holding blood samples, linked to register data, from more than 5500 patients with rheumatoid arthritis in Sweden who have early disease or are starting a biological disease-modifying drug, used for genetic and treatment-response research."; 5500; "SRQ biobank", "SRQRB", "SRQb", "Swedish Rheumatology Quality Register’s biobank"; ; rdfs:label "Swedish Rheumatology Quality Register Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8064 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8064; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "SRQb is an ongoing research project currently holding blood samples from >5500 RA patients, with either early RA or starting a bDMARD." . _:1e462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "SRQ is a nationwide quality register established in the mid-1990s used by most rheumatologists in Sweden to monitor the disease course of patients as part of standard care." . _:1e472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "Our primary analysis cohort consisted of early-RA patients receiving MTX in DMARD monotherapy as their first RA treatment, identified in the Epidemiological Investigation of RA (EIRA) biobank or the Swedish Rheumatology Quality Register’s (SRQ) biobank (SRQb)." . _:1e482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281046"; "Genome-wide investigation of persistence with methotrexate treatment in early rheumatoid arthritis."; "PMID:37326842", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "Our primary analysis cohort consisted of early-RA patients receiving MTX in DMARD monotherapy as their first RA treatment, identified in the Epidemiological Investigation of RA (EIRA) biobank or the Swedish Rheumatology Quality Register’s (SRQ) biobank (SRQb)." . _:1e492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of the Swedish Rheumatology Quality Register holding blood samples, linked to register data, from more than 5500 patients with rheumatoid arthritis in Sweden who have early disease or are starting a biological disease-modifying drug, used for genetic and treatment-response research."; "PMID:37326842"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5500; "RA patients with blood samples in the biobank (stated as more than 5500), 2023"; "PMID:37326842"; rdfs:comment "SRQb is an ongoing research project currently holding blood samples from >5500 RA patients, with either early RA or starting a bDMARD." . _:1e4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRQRB"; . _:1e4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRQb"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8073; ; , ; "PMID:37326842"; "A nationwide quality register of patients with rheumatic diseases, established in Sweden in the mid-1990s and used by most Swedish rheumatologists to monitor the disease course of patients as part of standard care."; 89000; "SRQ"; rdfs:label "Swedish Rheumatology Quality Register"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8073 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8073; "rheumatic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "SRQ is a nationwide quality register established in the mid-1990s used by most rheumatologists in Sweden to monitor the disease course of patients as part of standard care." . _:1e4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "SRQ is a nationwide quality register established in the mid-1990s used by most rheumatologists in Sweden to monitor the disease course of patients as part of standard care." . _:1e4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37326842"; "Genome-wide investigation of persistence with methotrexate treatment in early rheumatoid arthritis."; "PMID:37326842", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11065441/fullTextXML"; rdfs:comment "SRQ is a nationwide quality register established in the mid-1990s used by most rheumatologists in Sweden to monitor the disease course of patients as part of standard care." . _:1e502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide quality register of patients with rheumatic diseases, established in Sweden in the mid-1990s and used by most Swedish rheumatologists to monitor the disease course of patients as part of standard care."; "PMID:37326842"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 89000; "patients in the register across over 100 rheumatic diagnoses"; "https://srq.nu/en/about-us-health-professional/" . _:1e522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRQ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8080; , ; "GCST90726396"; "A clinical sample of patients with Alzheimer's disease evaluated at the memory disorder unit of Skåne University Hospital, Sweden, with physical, neurological and psychiatric examination, a clinical interview, cognitive testing, APOE genotyping and brain imaging, whose cerebrospinal fluid Alzheimer's biomarker data were used in a genome-wide association meta-analysis."; 315; "SWEDEN", "Sweden"; ; rdfs:label "Skåne University Hospital memory clinic cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8080 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8080; "Alzheimer's disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-026-71682-8/MediaObjects/41467_2026_71682_MOESM1_ESM.pdf"; rdfs:comment "Of the total 315 subjects included in this study, 100% of them were diagnosed as having AD." . _:1e542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13402690/supplementaryFiles"; rdfs:comment "Skåne University Hospital, Sweden (SWEDEN) The samples included in this cohort were evaluated at memory disorder unit at Skåne University Hospital." . _:1e552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726396"; "GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy."; "PMID:42014397", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13402690/supplementaryFiles"; rdfs:comment "Skåne University Hospital, Sweden (SWEDEN) The samples included in this cohort were evaluated at memory disorder unit at Skåne University Hospital." . _:1e562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical sample of patients with Alzheimer's disease evaluated at the memory disorder unit of Skåne University Hospital, Sweden, with physical, neurological and psychiatric examination, a clinical interview, cognitive testing, APOE genotyping and brain imaging, whose cerebrospinal fluid Alzheimer's biomarker data were used in a genome-wide association meta-analysis."; "PMID:42014397"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 315; "AD patients included in the CSF-biomarker GWAS meta-analysis (analysed subset), 2026"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-026-71682-8/MediaObjects/41467_2026_71682_MOESM1_ESM.pdf"; rdfs:comment "Of the total 315 subjects included in this study, 100% of them were diagnosed as having AD." . _:1e582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWEDEN"; . _:1e592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sweden"; . a owl:NamedIndividual, ; , ; "GCST90007526"; "A population-based study of 2,488 people aged 65 and older in the province of Toledo, Spain, selected by two-stage random sampling from the municipal census and covering institutionalised and community-dwelling persons in rural and urban settings, with data collected from 2006 to study frailty and healthy ageing."; 2488; "TSHA", "Toledo Study of Healthy Aging"; ; rdfs:label "Toledo Study for Healthy Aging"@en . _:1e5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22159772+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "among the older adult population in the province of Toledo (Spain)" . _:1e5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "Toledo Study for Healthy Aging (TSHA) Data were taken from the Toledo Study for Healthy Aging, a population-based study conducted on 2,488 individuals aged 65 years and older." . _:1e5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of 2,488 people aged 65 and older in the province of Toledo, Spain, selected by two-stage random sampling from the municipal census and covering institutionalised and community-dwelling persons in rural and urban settings, with data collected from 2006 to study frailty and healthy ageing."; "PMID:22159772"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2488; "people aged 65 and older in the final baseline sample (interviewed), 2006-2009"; "PMID:22159772"; rdfs:comment "Data were taken from the Toledo Study for Healthy Aging, a population-based study conducted on 2,488 individuals aged 65 years and older." . _:1e5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TSHA"; . a owl:NamedIndividual, ; , ; ; "GCST90007526"; "A multidisciplinary, multi-institutional cohort of about 1,600 older adults aged 60–80 and 600 younger adults aged 20–35 recruited as volunteers in the Berlin metropolitan area, Germany, with baseline assessments completed in 2014 across geriatrics, internal medicine, immunology, genetics, psychology, sociology and economics, to identify factors associated with healthy versus unhealthy ageing; a subsample of the older group was re-examined in 2018–2020 in the GendAge study."; 2200; "BASE", "BASE-II"; ; rdfs:label "Berlin Aging Study II"@en . _:1e5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8230995/fullTextXML"; rdfs:comment "Baseline recruitment of 2200 adult volunteers from the Berlin metropolitan area and baseline assessments were completed in 2014." . _:1e602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "Berlin Aging Study II (BASE-II) BASE-II is a multidisciplinary study initiated in 2009 investigating factors related to human aging (3)." . _:1e612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multidisciplinary, multi-institutional cohort of about 1,600 older adults aged 60–80 and 600 younger adults aged 20–35 recruited as volunteers in the Berlin metropolitan area, Germany, with baseline assessments completed in 2014 across geriatrics, internal medicine, immunology, genetics, psychology, sociology and economics, to identify factors associated with healthy versus unhealthy ageing; a subsample of the older group was re-examined in 2018–2020 in the GendAge study."; "PMID:23505255"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2200; "participants in the original baseline sample (older and younger groups), 2009-2014"; "PMID:34162642"; rdfs:comment "Of the original BASE-II sample consisting of 2200 participants, 1671 aged 60 years and above (=older group) were assessed medically at baseline between 2009 and 2014." . _:1e632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BASE"; . _:1e642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BASE-II"; . a owl:NamedIndividual, ; , ; ; ; "GCST90007526"; "The second cohort of the Rotterdam Study, a prospective population-based cohort of 3,011 inhabitants of Ommoord, a suburb of Rotterdam in the Netherlands, who had moved to the district or turned 55 since the first cohort began, enrolled from 2000 and re-examined about every 5 years to study determinants of chronic diseases in older adults."; 3011; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RS2"; "RS-II", "RS2", "RSII", "Rotterdam Study cohort II", "Rotterdam Study second cohort", "Rotterdam Study, second cohort", "second cohort of the Rotterdam Study"; , ; rdfs:label "Rotterdam Study II"@en; rdfs:seeAlso . _:1e652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12188677/fullTextXML"; rdfs:comment "Briefly, RS is a large prospective, population-based cohort study conducted among middle-aged and older people in the suburb Ommoord in Rotterdam, the Netherlands." . _:1e662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12188677/fullTextXML"; rdfs:comment "In 2000, the RS was extended with a second subcohort (RS-II) of 3011 participants who moved to Ommoord or turned 55 years old." . _:1e672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "Rotterdam Study II 273 137 121 58 684 565 1,249" . _:1e682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The second cohort of the Rotterdam Study, a prospective population-based cohort of 3,011 inhabitants of Ommoord, a suburb of Rotterdam in the Netherlands, who had moved to the district or turned 55 since the first cohort began, enrolled from 2000 and re-examined about every 5 years to study determinants of chronic diseases in older adults."; "PMID:40563098"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3011; "participants enrolled in the second subcohort (RS-II), 2000"; "PMID:40563098"; rdfs:comment "In 2000, the RS was extended with a second subcohort (RS-II) of 3011 participants who moved to Ommoord or turned 55 years old." . _:1e6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS-II"; . _:1e6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS2"; . _:1e6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RSII"; . _:1e6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rotterdam Study second cohort"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8108, _:genid-371333f489424440b12a13b9d98ced822608-genid8110; , ; ; "GCST90007526"; "The Malmö sub-cohort of MrOS Sweden: 1,005 men aged 69–81, randomly selected from the Swedish national population register and examined at hospital in Malmö, Sweden, in 2001–2004, to identify risk factors for osteoporosis and fracture."; 1005; "MrOS Malmo"; ; rdfs:label "MrOS Malmö"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8108 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8110 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8108; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men (MrOs) Sweden study is a prospective population-based multicenter observational study consisting of 3014 older men aged between 69 and 81 years at inclusion (mean age 75.4 ± (SD) 3.2 years), with the main aim to identify risk factors for osteoporosis and fracture." . _:1e6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8110; "fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men (MrOs) Sweden study is a prospective population-based multicenter observational study consisting of 3014 older men aged between 69 and 81 years at inclusion (mean age 75.4 ± (SD) 3.2 years), with the main aim to identify risk factors for osteoporosis and fracture." . _:1e702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "which consists of three sub-cohorts from three different Swedish cities (n = 1005 in Malmö, n = 1010 in Gothenburg, and n = 999 in Uppsala)." . _:1e712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "which consists of three sub-cohorts from three different Swedish cities (n = 1005 in Malmö, n = 1010 in Gothenburg, and n = 999 in Uppsala)." . _:1e722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "Genotyping, imputation and quality controls of MrOS Malmö were performed using the HumanOmniExpress-12v1_B build 36." . _:1e732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Malmö sub-cohort of MrOS Sweden: 1,005 men aged 69–81, randomly selected from the Swedish national population register and examined at hospital in Malmö, Sweden, in 2001–2004, to identify risk factors for osteoporosis and fracture."; "PMID:30902044"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1005; "men recruited and measured at Malmö, 2001-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The participants were recruited and measured at hospitals in the three cities of Malmö (n = 1005), Gothenburg (n = 1010) and Uppsala (n = 999) between October 2001 and December 2004 with an attendance rate of 45% [16]." . _:1e752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MrOS Malmo"; . a owl:NamedIndividual, ; , ; "GCST90007526"; "An ongoing prospective cohort study of older adults in the Netherlands, started in 1992 with a nationally representative sample aged 55–84 and refreshed with further cohorts in 2002, 2012 and 2024, to describe determinants, trajectories and consequences of changes in physical, cognitive, emotional and social functioning."; 3107; "LASA", "LASA I", "LASA II"; ; rdfs:label "Longitudinal Aging Study Amsterdam"@en . _:1e762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40366610+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Longitudinal Aging Study Amsterdam (LASA) is an ongoing prospective cohort study of older adults in the Netherlands, with data on multiple domains of functioning available over a period of more than 30 years of follow-up." . _:1e772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "Longitudinal Aging Study Amsterdam (LASA) is an ongoing, population-based cohort of individuals 55 years and older living in the Netherlands." . _:1e782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective cohort study of older adults in the Netherlands, started in 1992 with a nationally representative sample aged 55–84 and refreshed with further cohorts in 2002, 2012 and 2024, to describe determinants, trajectories and consequences of changes in physical, cognitive, emotional and social functioning."; "PMID:40366610"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3107; "original cohort at the first LASA wave (wave B, 1992-1993)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12263719/fullTextXML"; rdfs:comment "On average 11 months after the LSN interview (wave A), respondents were invited to participate in the first measurement wave of LASA (wave B, n = 3107)." . _:1e7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LASA"; . _:1e7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LASA I"; . _:1e7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LASA II"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8125; , ; "GCST90841459"; "A multicentre Finnish study of women who gave birth in 2009–2012, with a prospective genetic case-control arm of 1,146 pregnant women with gestational diabetes and 1,066 without, their children and the children’s fathers, recruited at seven hospitals, and a national register-based arm, to study the causes and consequences of gestational diabetes."; 1146; 1066; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/FinnGeDi"; "FinnGeDi", "The Finnish Gestational Diabetes (FinnGeDi) Study"; , ; rdfs:label "Finnish Gestational Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8125 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8125; "gestational diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7394962/fullTextXML"; rdfs:comment "The prospectively collected case-control cohort consists of 1146 pregnant women with GDM and 1066 women without GDM, their children from the index pregnancy and the children’s fathers." . _:1e7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7394962/fullTextXML"; rdfs:comment "The Finnish Gestational Diabetes (FinnGeDi) study is a multicentre study that considered Finnish women who gave birth in 2009–12, as well as their children and the children’s fathers." . _:1e7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841459"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/fullTextXML"; rdfs:comment "EFSOCH (EUR), Gen3G (EUR), FinnGeDi (EUR), ALSPAC (EUR), HAPO (EUR, AFR, EAS, SAS, HIS) and ELGH (SAS)." . _:1e802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre Finnish study of women who gave birth in 2009–2012, with a prospective genetic case-control arm of 1,146 pregnant women with gestational diabetes and 1,066 without, their children and the children’s fathers, recruited at seven hospitals, and a national register-based arm, to study the causes and consequences of gestational diabetes."; "PMID:32374401"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1146; "case-control arm: pregnant women with and without GDM recruited 2009-2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7394962/fullTextXML"; rdfs:comment "The case-control cohort was recruited in 2009–12 and includes 1146 women with GDM and 1066 non-diabetic controls aged 17–48 years, their children and the children’s fathers." . _:1e822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1066; "case-control arm: pregnant women with and without GDM recruited 2009-2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7394962/fullTextXML"; rdfs:comment "The case-control cohort was recruited in 2009–12 and includes 1146 women with GDM and 1066 non-diabetic controls aged 17–48 years, their children and the children’s fathers." . _:1e832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinnGeDi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8133, _:genid-371333f489424440b12a13b9d98ced822608-genid8135; , ; ; "GCST90007526"; "The Gothenburg sub-cohort of MrOS Sweden: 1,010 men aged 69–81, randomly selected from the Swedish national population register and examined at hospital in Gothenburg, Sweden, in 2001–2004, to identify risk factors for osteoporosis and fracture."; "The acronym MrOS also denotes Osteoporotic Fractures in Men Study (COHO:0000549); this term is MrOS Gothenburg."@en, "The acronym TGS also denotes Gothenburg H70 Birth Cohort Studies and Clinical AD Sweden (COHO:0000666); this term is MrOS Gothenburg."@en; 1010; "MrOS", "TGS"; ; rdfs:label "MrOS Gothenburg"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8133 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8135 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8133; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men (MrOs) Sweden study is a prospective population-based multicenter observational study consisting of 3014 older men aged between 69 and 81 years at inclusion (mean age 75.4 ± (SD) 3.2 years), with the main aim to identify risk factors for osteoporosis and fracture." . _:1e852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8135; "fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The Osteoporotic Fractures in Men (MrOs) Sweden study is a prospective population-based multicenter observational study consisting of 3014 older men aged between 69 and 81 years at inclusion (mean age 75.4 ± (SD) 3.2 years), with the main aim to identify risk factors for osteoporosis and fracture." . _:1e862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "which consists of three sub-cohorts from three different Swedish cities (n = 1005 in Malmö, n = 1010 in Gothenburg, and n = 999 in Uppsala)." . _:1e872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "which consists of three sub-cohorts from three different Swedish cities (n = 1005 in Malmö, n = 1010 in Gothenburg, and n = 999 in Uppsala)." . _:1e882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90007526"; "Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women."; "PMID:33510174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7844411/supplementaryFiles"; rdfs:comment "Genotyping, imputation and quality controls of MrOS Gothenburg were performed using the Illumina HumanOmni1_Quad_v1-0 B array." . _:1e892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Gothenburg sub-cohort of MrOS Sweden: 1,010 men aged 69–81, randomly selected from the Swedish national population register and examined at hospital in Gothenburg, Sweden, in 2001–2004, to identify risk factors for osteoporosis and fracture."; "PMID:30902044"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1010; "men recruited and measured at Gothenburg, 2001-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6431016/fullTextXML"; rdfs:comment "The participants were recruited and measured at hospitals in the three cities of Malmö (n = 1005), Gothenburg (n = 1010) and Uppsala (n = 999) between October 2001 and December 2004 with an attendance rate of 45% [16]." . _:1e8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MrOS"; . _:1e8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TGS"; . a owl:NamedIndividual, ; , , , ; "GCST90095038"; "A consortium of genome-wide association studies of individuals of African ancestry that meta-analyses results from participating studies (up to about 53,000 individuals for body mass index) to discover and fine-map genetic loci for adiposity and other anthropometric traits."; 52895; "AAAGC", "African American Anthropometry Genetics Consortium", "African Ancestry Anthropometry Genetics"; ; rdfs:label "African Ancestry Anthropometry Genetics Consortium"@en . _:1e8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5419579/supplementaryFiles"; rdfs:comment "Mount Sinai BioMe BioBank: The Institute for Personalized Medicine (IPM) BioMe Biobank Project is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually." . _:1e8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5419579/supplementaryFiles"; rdfs:comment "Coronary Artery Risk Development in young Adults (CARDIA): The CARDIA study is a prospective, multi-center investigation of the natural history and etiology of cardiovascular disease in African Americans and whites 18-30 years of age at the time of initial examination." . _:1e8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5419579/supplementaryFiles"; rdfs:comment "The Cleveland Family Study (CFS) is a family-based, longitudinal study designed to characterize the genetic and non-genetic risk factors for sleep apnea" . _:1e902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5419579/supplementaryFiles"; rdfs:comment "The Maywood cohort consisted of African Americans from Maywood, IL, who were enrolled in studies of blood pressure at the Loyola University Chicago Stritch School of Medicine, Maywood, IL, USA" . _:1e912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095038"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "In addition to a Hispanic/Latino-only meta-analysis, we combined the HISLA stage 1 meta-analysis with data from previous large-scale GWAS meta-analyses of European (the Genetic Investigation of Anthropometric Traits [GIANT] Consortium,33, 34, 35 N ∼ 300,000) and/or African (the African Ancestry Anthropometry Genetics Consortium [AAAGC],36,37 N ∼ 50,000) descent populations." . _:1e922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of genome-wide association studies of individuals of African ancestry that meta-analyses results from participating studies (up to about 53,000 individuals for body mass index) to discover and fine-map genetic loci for adiposity and other anthropometric traits."; "PMID:28430825"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 52895; "African ancestry individuals in the 2017 BMI meta-analysis (stages 1+2, sex-combined, maximum N)"; "PMID:28430825"; rdfs:comment "We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes." . _:1e942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAAGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8152; , ; "GCST90269977"; "A public–private research programme managed by the Foundation for the National Institutes of Health that harmonizes whole-genome sequencing, RNA expression and clinical data from multiple Parkinson's disease cohort studies, including PPMI, PDBP, the Harvard Biomarkers Study and BioFIND, on a shared platform for Parkinson's disease research."; 10908; "AMP PD", "AMP-PD", "Accelerating Medicines Partnership: Parkinson's Disease", "Accelerating Medicines Partnership–Parkinson’s Disease"; ; rdfs:label "Accelerating Medicines Partnership Parkinson's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8152 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1e952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8152; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33960523+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The clinical diagnosis of participants in version 1 release includes 2005 idiopathic PD patients, 963 healthy controls, 64 prodromal subjects, 62 clinically diagnosed PD subjects without evidence of dopamine deficit, and 705 participants of genetically enriched cohorts carrying PD risk-associated GBA variants or LRRK2 variants, of whom 304 were affected." . _:1e962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8453903/fullTextXML"; rdfs:comment "A large component of these data comes in the form of WGS that has been or will be generated across the Parkinson's Progression Markers Initiative (PPMI), the Parkinson's Disease Biomarkers Project (PDBP), the Harvard Biomarkers Study (HBS), BioFIND, the Study of Urate Elevation in Parkinson's Disease trial (SURE‐PD), and the Safety, Tolerability and Efficacy Assessment of Dynacirc CR in Parkinson Disease (STEADY‐PD) trial." . _:1e972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8453903/fullTextXML"; rdfs:comment "A large component of these data comes in the form of WGS that has been or will be generated across the Parkinson's Progression Markers Initiative (PPMI), the Parkinson's Disease Biomarkers Project (PDBP), the Harvard Biomarkers Study (HBS), BioFIND, the Study of Urate Elevation in Parkinson's Disease trial (SURE‐PD), and the Safety, Tolerability and Efficacy Assessment of Dynacirc CR in Parkinson Disease (STEADY‐PD) trial." . _:1e982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269977"; "Genome-wide association study of REM sleep behavior disorder in Parkinson's disease."; "PMID:40998812", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12462436/fullTextXML"; rdfs:comment "The AMP-PD cohort data used in this study included the Fox Investigation for New Discovery of Biomarkers (BioFIND), the Harvard Biomarker Study (HBS) and the Parkinson’s Disease Biomarkers Program (PDBP) cohorts." . _:1e992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A public–private research programme managed by the Foundation for the National Institutes of Health that harmonizes whole-genome sequencing, RNA expression and clinical data from multiple Parkinson's disease cohort studies, including PPMI, PDBP, the Harvard Biomarkers Study and BioFIND, on a shared platform for Parkinson's disease research."; "PMID:33960523"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1e9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10908; "participants whose data AMP PD harmonises (Unified Cohort and Postmortem Brain Cohort), current website"; "https://amp-pd.org/data"; rdfs:comment "AMP PD generates and consolidates data from 10,908 participants from the Unified Cohort (including BioFIND, HBS, LBD, LCC, PDBP, PPMI, STEADY PD, and Sure PD) and the Postmortem Brain Cohort." . _:1e9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMP PD"; . _:1e9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMP-PD"; . a owl:NamedIndividual, ; , ; "GCST90105058"; "A population-based cohort of older adults aged 65 and over, recruited from the electoral rolls of Castellana Grotte, Bari, in Apulia, southern Italy, by the National Institute of Gastroenterology 'Saverio de Bellis' Research Hospital as a public health initiative funded by the Italian Ministry of Health and the Apulia Regional Government, to study ageing, frailty, cognitive decline and related conditions."; 2192; "Apulia", "Great Age study", "SA", "SAS", "Salus in Apulia", "Salus in Apulia aging cohort"; ; rdfs:label "Salus in Apulia Study"@en . _:1e9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9313038/fullTextXML"; rdfs:comment "Participants of the present study were recruited from the electoral rolls of Castellana Grotte, Bari, Southern Italy." . _:1e9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90105058"; "Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss."; "PMID:35580588", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9247887/fullTextXML"; rdfs:comment "Age, Genes/Environment Susceptibility - Reykjavik (AGES; n = 3,134), the Danish Twin Registry (DTR; n = 1,314), the Estonian Genome Center at the University of Tartu (EGCUT; n = 55,523), FinnGen (n = 212,544), Framingham Heart Study (FHS; n = 2,536), Health Aging and Body Composition (HABC; n = 1,288), Italian Network of Genetic Isolates - Friuli Venezia Giulia (INGI-FVG; n = 339), the Rotterdam Study (RS, cohorts 1–3; n = 6,157), the Salus in Apulia study (SA; n = 1,780; formerly known as Great Age study), Screening Across the Lifespan Twin (SALT; n = 9,565, and SALTY - young; n = 5,133), Screening Twin Adults:" . _:1e9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of older adults aged 65 and over, recruited from the electoral rolls of Castellana Grotte, Bari, in Apulia, southern Italy, by the National Institute of Gastroenterology 'Saverio de Bellis' Research Hospital as a public health initiative funded by the Italian Ministry of Health and the Apulia Regional Government, to study ageing, frailty, cognitive decline and related conditions."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9313038/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ea02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2192; "individuals aged 65 or older in the cohort (MICOL plus GreatAGE), 2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8700814/fullTextXML"; rdfs:comment "The present study included individuals from the Salus in Apulia Study (MICOL Study plus GreatAGE Study), an ongoing population-based prospective cohort comprising 2192 individuals aged 65 years or older and resident in Castellana Grotte, a town located near Bari, Puglia, in the southeast of Italy." . _:1ea12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Apulia"; . _:1ea22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SA"; . _:1ea32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8168, _:genid-371333f489424440b12a13b9d98ced822608-genid8170; , , ; "GCST90239651"; "A case-control collection of Han Chinese participants from Beijing, China, with myocardial infarction cases verified by hospital records and cardiologists and controls randomly selected from a community-based survey of cardiovascular risk factors in Beijing, assembled to study genetic susceptibility to coronary artery disease and atherosclerosis."; 509; 1034; "BAS"; ; rdfs:label "Beijing Atherosclerosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8168 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ea42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8168; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "BAS study consisted of 505 cases of MI and 1,021 controls." . _:1ea52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8170; "myocardial infarction"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "BAS study consisted of 505 cases of MI and 1,021 controls." . _:1ea62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "All participants were from Beijing, China." . _:1ea72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239651"; "The power of genetic diversity in genome-wide association studies of lipids."; "PMID:34887591", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "the Beijing Atherosclerosis Study BAS Case BAS Control" . _:1ea82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of Han Chinese participants from Beijing, China, with myocardial infarction cases verified by hospital records and cardiologists and controls randomly selected from a community-based survey of cardiovascular risk factors in Beijing, assembled to study genetic susceptibility to coronary artery disease and atherosclerosis."; "PMID:22751097"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ea92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 509; "MI cases and controls genotyped in the GWAS discovery stage"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "BAS consisted of 509 cases of MI and 1,034 controls genotyped using the Affymetrix Human Mapping 500K Array Set including 500,568 SNPs." . _:1eaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1034; "MI cases and controls genotyped in the GWAS discovery stage"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "BAS consisted of 509 cases of MI and 1,034 controls genotyped using the Affymetrix Human Mapping 500K Array Set including 500,568 SNPs." . _:1eab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8178; ; , ; "GCST90841074"; "A nation-wide Dutch collaborative project that combines genotype data from sixteen population and clinical cohorts in the Netherlands with uniform, DSM-based phenotyping of major depressive disorder, pooled centrally for genetic mega-analysis of depression."; 16655; 48286; 64941; "BIONIC", "BIONIC consortium", "BIONIC project", "Biobanks Netherlands Internet Collaboration"; ; rdfs:label "BIObanks Netherlands Internet Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8178 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1eac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8178; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; rdfs:comment "We conducted a genome-wide association (GWAS) mega-analysis of DSM-defined lifetime major depressive disorder (MDD) in 64 941 participants (25.7% cases) from the Dutch BIObanks Netherlands Internet Collaboration (BIONIC) consortium." . _:1ead2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/supplementaryFiles"; rdfs:comment "The Netherlands Study of Depression and Anxiety (NESDA) is a longitudinal cohort study that aims to investigate the etiology, course, and consequences of depressive and anxiety disorders." . _:1eae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; rdfs:comment "We enriched the existing population and clinical cohorts in the Netherlands with an infrastructure for nation-wide depression phenotyping so that all MDD cases were defined based on DSM-5 (Diagnostic and Statistical Manual of Mental Disorders) criteria [3, 23]." . _:1eaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841074"; "Genetics of major depressive disorder in a homogeneous population with uniform phenotyping."; "PMID:42230966", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; rdfs:comment "This genome-wide association (GWAS) mega-analysis combines lifetime major depressive disorder (MDD) and genotype data from sixteen Dutch cohorts in the BIONIC (BIObanks Netherlands Internet Collaboration) project." . _:1eb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nation-wide Dutch collaborative project that combines genotype data from sixteen population and clinical cohorts in the Netherlands with uniform, DSM-based phenotyping of major depressive disorder, pooled centrally for genetic mega-analysis of depression."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1eb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16655; "individuals in the lifetime MDD GWAS mega-analysis (16 655 cases, 48 286 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; rdfs:comment "We performed a genome-wide association mega-analysis of lifetime MDD case-control status in 64 941 individuals (16 655 cases and 48 286 controls) and evaluated the extent to which this design captured common-variant signal by estimating SNP-based heritability and genetic overlap with the latest Psychiatric Genomics Consortium major depression GWAS [10]." . _:1eb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 48286; "individuals in the lifetime MDD GWAS mega-analysis (16 655 cases, 48 286 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; rdfs:comment "We performed a genome-wide association mega-analysis of lifetime MDD case-control status in 64 941 individuals (16 655 cases and 48 286 controls) and evaluated the extent to which this design captured common-variant signal by estimating SNP-based heritability and genetic overlap with the latest Psychiatric Genomics Consortium major depression GWAS [10]." . _:1eb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 64941; "individuals in the lifetime MDD GWAS mega-analysis (16 655 cases, 48 286 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13569458/fullTextXML"; rdfs:comment "We performed a genome-wide association mega-analysis of lifetime MDD case-control status in 64 941 individuals (16 655 cases and 48 286 controls) and evaluated the extent to which this design captured common-variant signal by estimating SNP-based heritability and genetic overlap with the latest Psychiatric Genomics Consortium major depression GWAS [10]." . _:1eb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIONIC"; . a owl:NamedIndividual, ; , ; "GCST90095044"; "A multiethnic longitudinal study of healthy children at five clinical centres in the United States, enrolled from 2002–2003 at ages 6 to 16 years (1,554 children), with a later enrolment wave of 5- and 19-year-olds, measured annually by dual-energy X-ray absorptiometry for up to 6 years, established to provide reference curves for bone mineral content and density by age, sex and race."; 2014; "BMDCS"; ; rdfs:label "Bone Mineral Density in Childhood Study"@en . _:1eb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17311856+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Bone Mineral Density in Childhood Study is an ongoing longitudinal study in which measurements are obtained annually at five clinical centers in the United States." . _:1eb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095044"; "CYP11B1 variants influence skeletal maturation via alternative splicing."; "PMID:34754074", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8578655/fullTextXML"; rdfs:comment "A GWAS meta-analysis including 9,806,907 single-nucleotide polymorphisms (SNPs) was performed in 4557 children of multiethnic background participating in the Generation R Study (N = 3510, 49% boys; mean age 9.8, SD = 0.33 years) and the Bone Mineral Density in Childhood Study (BMDCS) (N = 1047, 47% boys; mean age 10.9, SD = 1.39 years) to identify loci associated with SA (assessed in years in both cohorts)." . _:1eb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiethnic longitudinal study of healthy children at five clinical centres in the United States, enrolled from 2002–2003 at ages 6 to 16 years (1,554 children), with a later enrolment wave of 5- and 19-year-olds, measured annually by dual-energy X-ray absorptiometry for up to 6 years, established to provide reference curves for bone mineral content and density by age, sex and race."; "PMID:17311856", "PMID:34754074"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1eb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2014; "healthy children who participated (initial cohort plus later enrolment), 5-23 years (2011)"; "PMID:21917867"; rdfs:comment "Two thousand fourteen healthy children (992 males, 22% African-Americans) aged 5-23 yr participated in the study." . _:1eb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BMDCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8193; , ; ; "GCST90129576"; "A population-based case-control study of women aged 20–80 with in situ or invasive breast cancer diagnosed from April 2005 to May 2009 in Metro Vancouver, British Columbia, and Kingston, Ontario, Canada, with cases from the BC Cancer Registry and controls from the Screening Mammography Program of BC in Vancouver, and cases and controls from the Hotel Dieu Breast Assessment Program in Kingston."; "The acronym CBCS also denotes Carolina Breast Cancer Study (COHO:0001210) and Copenhagen Breast Cancer Study (COHO:0001623); this term is Canadian Breast Cancer Study."@en; 1134; 1179; "CBCS", "CanBCS"; ; rdfs:label "Canadian Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8193 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1eba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8193; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6314637/fullTextXML"; rdfs:comment "In brief, the Canadian Breast Cancer Study, a population-based case-control study, invited women with in situ or invasive breast cancer, diagnosed from April 2005 to May 2009 [12]." . _:1ebb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6314637/fullTextXML"; rdfs:comment "Women were aged 20 to 80 and lived in Metro Vancouver, British Columbia (BC) or Kingston, Ontario regions of Canada." . _:1ebc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "CBCS thanks study participants, co-investigators, collaborators and staff of the Canadian Breast Cancer Study, and project coordinators Agnes Lai and Celine Morissette." . _:1ebd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of women aged 20–80 with in situ or invasive breast cancer diagnosed from April 2005 to May 2009 in Metro Vancouver, British Columbia, and Kingston, Ontario, Canada, with cases from the BC Cancer Registry and controls from the Screening Mammography Program of BC in Vancouver, and cases and controls from the Hotel Dieu Breast Assessment Program in Kingston."; "PMID:30601841"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ebe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1134; "breast cancer cases and controls in the study's night shift work analysis (Vancouver and Kingston), 2013"; "PMID:23817841"; rdfs:comment "Relationships between night shift work and breast cancer were examined among 1134 breast cancer cases and 1179 controls, frequency-matched by age in Vancouver, British Columbia, and Kingston, Ontario." . _:1ebf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1179; "breast cancer cases and controls in the study's night shift work analysis (Vancouver and Kingston), 2013"; "PMID:23817841"; rdfs:comment "Relationships between night shift work and breast cancer were examined among 1134 breast cancer cases and 1179 controls, frequency-matched by age in Vancouver, British Columbia, and Kingston, Ontario." . _:1ec02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBCS"; . _:1ec12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CanBCS"; . a owl:NamedIndividual, ; , ; ; "GCST90101809"; "A panel of volunteers in Cambridge, England, including blood donors registered with NHS Blood and Transplant, who have consented to be recalled for research studies by genotype or phenotype; the Cambridge centre of the NIHR BioResource, funded by the NIHR Cambridge Biomedical Research Centre and NHS Blood and Transplant."; 17500; "BioResource", "CBR", "Cambridge BioResource", "Cambridge NIHR BioResource", "National Institute for Health Research Cambridge BioResource"; ; rdfs:label "NIHR Cambridge BioResource"@en . _:1ec22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10643047/fullTextXML"; rdfs:comment "= 299 healthy donors without previous thrombotic disease (AF, ischemic heart disease (IHD), myocardial infarction, or stroke), known platelet disorders, or malignancy were invited and contemporaneously recruited from the National Institute for Health Research Cambridge BioResource (Cambridge East Ethics Committee (ref 10/H0304/65))." . _:1ec32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12590175/fullTextXML"; rdfs:comment "We gratefully acknowledge the participation of all Cambridge NIHR BioResource volunteers and we thank the Cambridge BioResource staff for their help with volunteer recruitment to the studies discussed in this review." . _:1ec42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101809"; "G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1."; "PMID:34581777", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006276/fullTextXML"; rdfs:comment "Donors registered with National Health Service Blood and Transplant (NHSBT) were invited to join the National Institute for Health Research BioResource, a cohort of volunteers who have consented to be recalled for studies by genotype." . _:1ec52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A panel of volunteers in Cambridge, England, including blood donors registered with NHS Blood and Transplant, who have consented to be recalled for research studies by genotype or phenotype; the Cambridge centre of the NIHR BioResource, funded by the NIHR Cambridge Biomedical Research Centre and NHS Blood and Transplant."; "PMID:34581777", "PMID:41194662"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ec62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17500; "volunteers recruited by the Cambridge centre since 2005 (stated as more than 17,500), 2019"; "https://www.cambridgeindependent.co.uk/news/how-medical-research-is-aided-by-140-000-volunteers-in-the-nihr-bioresource-9076432/"; rdfs:comment "There are 13 local NIHR BioResource centres across the country, including the Cambridge centre directed by Dr Bradley on the Addenbrooke’s site, which has recruited more than 17,500 volunteers who live, work or study in the region since its inception in 2005." . _:1ec72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioResource"; . _:1ec82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8209, _:genid-371333f489424440b12a13b9d98ced822608-genid8211; , , , , , , , , , , , , , , , , , , , , , , ; ; "GCST90455659"; "An international consortium of research groups that collect DNA and clinical data from carriers of BRCA1 and BRCA2 mutations, established to identify genetic modifiers of breast and ovarian cancer risk in mutation carriers; it began with about 30 affiliated groups and later brought together more than 60 studies."; 32613; "CIMBA", "Consortium of Investigators of Modifiers of BRCA1/2", "Consortium of Investigators of Modifiers of BRCA1/BRCA2"; ; rdfs:label "Consortium of Investigators of Modifiers of BRCA1 and BRCA2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8209 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8211 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ec92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8209; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17466083+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CIMBA contains about 30 affiliated groups who together have collected DNA and clinical data from approximately 10,000 BRCA1 and 5,000 BRCA2 mutation carriers." . _:1eca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8211; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17466083+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CIMBA contains about 30 affiliated groups who together have collected DNA and clinical data from approximately 10,000 BRCA1 and 5,000 BRCA2 mutation carriers." . _:1ecb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1868919/fullTextXML"; rdfs:comment "A number of large studies and consortia have been established that aim to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers, including Modifiers and Genetics in Cancer (MAGIC), Epidemiological study of BRCA1 and BRCA2 mutation carriers (EMBRACE), Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO), the Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), the German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC) and the Breast Cooperative Family Registry (Breast-CFR). However, with current sample sizes of less than 1,500 carriers, none of these groups have adequate power to identify genetic modifiers with confidence. To address this problem, a 'consortium of consortia', the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA), was established in 2005 (see Additional file 1 for a list of current contributors)." . _:1ecc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8755508/fullTextXML"; rdfs:comment "Male BRCA1 and BRCA2 pathogenic variant carriers were recruited through 40 studies from 19 countries participating in the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) (24)." . _:1ecd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9537519/fullTextXML"; rdfs:comment "CIMBA phenotype data used in this study from BCFR-AU, BCFR-NC, BCFR-NY, BCFR-PA, BCFR-UT, BFBOCC, BIDMC, BMBSA, CBCS, CNIO, COH, DEMOKRITOS, DFCI, FCCC, GEORGETOWN, HCSC, HRBCP, HUNBOCS, HVH, ICO, KCONFAB, KUMC, MAYO, MSKCC, MUV, NCI, NNPIO, NORTHSHORE, OSUCCG, PBCS, SMC, SWE-BRCA, UCHICAGO, UCSF, UPENN, UPITT, UTMDACC, VFCTG, and WCP studies are available in the dbGaP database under accession code phs001321.v1.p1." . _:1ece2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from studies BCFR-ON, BRICOH, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, G-FAST, GC-HBOC, GEMO, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, MCGILL, NRG_ONCOLOGY, OUH and UKGRFOCR (see Supplementary Table 1—for a list of all CIMBA studies)." . _:1ecf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9537519/fullTextXML"; rdfs:comment "CIMBA phenotype data used in this study from BCFR-AU, BCFR-NC, BCFR-NY, BCFR-PA, BCFR-UT, BFBOCC, BIDMC, BMBSA, CBCS, CNIO, COH, DEMOKRITOS, DFCI, FCCC, GEORGETOWN, HCSC, HRBCP, HUNBOCS, HVH, ICO, KCONFAB, KUMC, MAYO, MSKCC, MUV, NCI, NNPIO, NORTHSHORE, OSUCCG, PBCS, SMC, SWE-BRCA, UCHICAGO, UCSF, UPENN, UPITT, UTMDACC, VFCTG, and WCP studies are available in the dbGaP database under accession code phs001321.v1.p1." . _:1ed02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from studies BCFR-ON, BRICOH, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, G-FAST, GC-HBOC, GEMO, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, MCGILL, NRG_ONCOLOGY, OUH and UKGRFOCR (see Supplementary Table 1—for a list of all CIMBA studies)." . _:1ed12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5808456/"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 2)." . _:1ed22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "GC-HBOC | German Familial Breast Group | GERMANY | 673 | 1145 | | 54 | 111" . _:1ed32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from studies BCFR-ON, BRICOH, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, G-FAST, GC-HBOC, GEMO, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, MCGILL, NRG_ONCOLOGY, OUH and UKGRFOCR (see Supplementary Table 1—for a list of all CIMBA studies)." . _:1ed42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 3)." . _:1ed52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 3)." . _:1ed62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 3)." . _:1ed72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9537519/fullTextXML"; rdfs:comment "CIMBA phenotype data used in this study from BCFR-AU, BCFR-NC, BCFR-NY, BCFR-PA, BCFR-UT, BFBOCC, BIDMC, BMBSA, CBCS, CNIO, COH, DEMOKRITOS, DFCI, FCCC, GEORGETOWN, HCSC, HRBCP, HUNBOCS, HVH, ICO, KCONFAB, KUMC, MAYO, MSKCC, MUV, NCI, NNPIO, NORTHSHORE, OSUCCG, PBCS, SMC, SWE-BRCA, UCHICAGO, UCSF, UPENN, UPITT, UTMDACC, VFCTG, and WCP studies are available in the dbGaP database under accession code phs001321.v1.p1." . _:1ed82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5808456/"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 2)." . _:1ed92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from studies BCFR-ON, BRICOH, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, G-FAST, GC-HBOC, GEMO, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, MCGILL, NRG_ONCOLOGY, OUH and UKGRFOCR (see Supplementary Table 1—for a list of all CIMBA studies)." . _:1eda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 3)." . _:1edb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 2)." . _:1edc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5808456/"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 2)." . _:1edd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "CIMBA DACC approval is required to access data from the BCFR-ON, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, GC-HBOC, GEMO, G-FAST, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, IPOBCS, MCGILL, MODSQUAD, NAROD, OCGN, OUH and UKGRFOCR studies (Supplementary Table 2)." . _:1ede2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-20496-3/MediaObjects/41467_2020_20496_MOESM1_ESM.pdf"; rdfs:comment "Supplementary table 1- Participating studies from CIMBA Study Acronym Study Name Country BCFR-AU Australian site of the Breast Cancer Family Registry Australia KCONFAB Kathleen Cuningham Consortium for Research into Familial Breast Cancer Australia VFCTG Victorian Familial Cancer Trials Group Australia G-FAST Ghent University Hospital Belgium BCFR-ON/OCGN Ontario site of the Breast Cancer Family Registry/Ontario Cancer Genetics Network Canada INHERIT INterdisciplinary HEalth Research Internal Team BReast CAncer susceptibility Canada (Quebec) MCGILL McGill University Canada (Quebec) CBCS Copenhagen Breast Cancer Study Denmark OUH Odense University Hospital Denmark HEBCS Helsinki Breast Cancer Study Finland GEMO Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers France/USA GC-HBOC German Familial Breast Group Germany DKFZ German Cancer Research Center Germany/Pakistan/Colombia DEMOKRITOS National Centre for Scientific Research Demokritos Greece SMC Sheba Medical Centre Israel CONSIT TEAM CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella Italy IOVHBOCS Istituto Oncologico Veneto Italy PBCS Università di Pisa Italy" . _:1edf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10182045/unicode"; rdfs:comment "Sweden Swedish Breast Cancer Study SWE-BRCA Sweden Cancer clinic-based study Regionala Etikprövningsnämnden Stockholm" . _:1ee02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "CIMBA DACC approval is required to access data from studies BCFR-ON, BRICOH, CONSIT TEAM, DKFZ, EMBRACE, FPGMX, G-FAST, GC-HBOC, GEMO, HEBCS, HEBON, IHCC, INHERIT, IOVHBOCS, MCGILL, NRG_ONCOLOGY, OUH and UKGRFOCR (see Supplementary Table 1—for a list of all CIMBA studies)." . _:1ee12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10182045/"; rdfs:comment "Victorian Familial Cancer Trials Group VFCTG Australia Cancer clinic-based study Peter MacCallum Cancer Centre Ethics Committee" . _:1ee22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90455659"; "Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer."; "PMID:41266372", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; rdfs:comment "We meta-analyzed >22 million variants for 398,238 women from the Ovarian Cancer Association Consortium (OCAC), UK Biobank (UKBB) and Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) to identify novel HGSOC susceptibility loci." . _:1ee32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of research groups that collect DNA and clinical data from carriers of BRCA1 and BRCA2 mutations, established to identify genetic modifiers of breast and ovarian cancer risk in mutation carriers; it began with about 30 affiliated groups and later brought together more than 60 studies."; "PMID:17466083", "PMID:41266372"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ee42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32613; "European-ancestry BRCA1/2 carriers in the consortium's 2025 HGSOC GWAS (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; rdfs:comment "The genome-wide association analyses for HGSOC were based on up to 398,238 women from OCAC (N = 120,248, 30.2%), UKBB (N = 245,377, 61.6%) and CIMBA (N = 32,613, 8.2%) (Table 1, Supplementary Tables 1, 2)." . _:1ee52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIMBA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8240; "GCST90296729"; "A European multicentre prospective study of patients with non-muscle-invasive bladder cancer, with tumour multi-omics and germline genotype data and clinical follow-up for recurrence and progression, used to define molecular subtypes of the disease and in genetic studies of bladder cancer."; 834; "CNIO", "CNIO/UROMOL", "CNIO/UROMOL study", "UROMOL", "UROMOL cohort", "UROMOL study"; ; rdfs:label "UROMOL project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8240 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ee62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8240; "non-muscle-invasive bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8052448/fullTextXML"; rdfs:comment "Here, we report an integrative multi-omics analysis of NMIBC tumors from a total of 834 patients included in the UROMOL project." . _:1ee72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296729"; "Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights."; "PMID:37210288", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10330197/"; rdfs:comment "Two studies (CNIO/UROMOL and deCODE) provided summary-level results after imputation (Supplementary material)." . _:1ee82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European multicentre prospective study of patients with non-muscle-invasive bladder cancer, with tumour multi-omics and germline genotype data and clinical follow-up for recurrence and progression, used to define molecular subtypes of the disease and in genetic studies of bladder cancer."; "PMID:33863885"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ee92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 834; "NMIBC patients in the 2021 multi-omics analysis (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8052448/fullTextXML"; rdfs:comment "Here, we report an integrative multi-omics analysis of NMIBC tumors from a total of 834 patients included in the UROMOL project." . _:1eea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNIO"; . _:1eeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNIO/UROMOL"; . _:1eec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UROMOL"; . a owl:NamedIndividual, ; , , ; "GCST90002231"; "A community-based health examination survey cohort of 6,431 adults aged 18–93 years randomly selected in 2009 from residents of the urban area of Xuzhou, Jiangsu, China, by Xuzhou Central Hospital, to study cardiometabolic risk factors such as insulin resistance, prediabetes, hypertension and early atherosclerosis."; "The acronym CRC also denotes Cooperative Research Centre Cohort (COHO:0000904); this term is Cardiometabolic Risk in Chinese Study."@en; 6431; "CRC", "CRC Study", "Cardiometabolic Risk in Chinese"; ; rdfs:label "Cardiometabolic Risk in Chinese Study"@en . _:1eed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4100564/fullTextXML"; rdfs:comment "In the cardiometabolic risk in Chinese (CRC) study, we performed a community-based health examination survey for 6,431 individuals (18-93y) who were randomly selected from residents living in the urban area of Xuzhou, China, in 2009." . _:1eee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002231"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The CRC Study" . _:1eef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based health examination survey cohort of 6,431 adults aged 18–93 years randomly selected in 2009 from residents of the urban area of Xuzhou, Jiangsu, China, by Xuzhou Central Hospital, to study cardiometabolic risk factors such as insulin resistance, prediabetes, hypertension and early atherosclerosis."; "PMID:25001365", "PMID:25400699"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ef02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6431; "individuals examined in the 2009 community health examination survey"; "https://europepmc.org/api/getPdf?pmcid=PMC4100564"; rdfs:comment "In the cardiometabolic risk in Chinese (CRC) study, we performed a community-based health examination survey for 6,431 individuals (18-93y) who were randomly selected from residents living in the urban area of Xuzhou, China, in 2009." . _:1ef12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8253; , ; "GCST90101840"; "A cohort of clozapine-treated patients with schizophrenia recruited by the Cooperative Research Centre from inpatient and outpatient clinics around Melbourne, Australia, with symptom severity (PANSS) assessments, contributing to genetic studies of clozapine treatment outcome."; "The acronym CRC also denotes Cardiometabolic Risk in Chinese Study (COHO:0000903); this term is Cooperative Research Centre Cohort."@en; 80; "CRC", "CRC Australia", "Cooperative Research Centre (CRC) Cohort"; ; rdfs:label "Cooperative Research Centre Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8253 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ef22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8253; "schizophrenia spectrum disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989876/fullTextXML"; rdfs:comment "Participants were included if they: (1) were aged 18 years or older, (2) had a primary diagnosis of schizophrenia spectrum disorder (SSD), and (3) were using clozapine (no minimum duration of treatment)." . _:1ef32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989876/fullTextXML"; rdfs:comment "Participants (N = 804) came from five independent cohorts: 470 participants were recruited by the Clozapine International (CLOZIN) [38–41] consortium in the Netherlands, Germany, Austria, and Finland; 174 participants by the Genetic Risk and Outcome of Psychosis (GROUP) consortium in the Netherlands; 80 participants by the Cooperative Research Centre (CRC) in Australia; 50 participants by Hacettepe University in Turkey; and 30 participants by Mental Health Services Rivierduinen in the Netherlands." . _:1ef42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101840"; "Genome-wide association analyses of symptom severity among clozapine-treated patients with schizophrenia spectrum disorders."; "PMID:35393395", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989876/fullTextXML"; rdfs:comment "Participants (N = 804) came from five independent cohorts: 470 participants were recruited by the Clozapine International (CLOZIN) [38–41] consortium in the Netherlands, Germany, Austria, and Finland; 174 participants by the Genetic Risk and Outcome of Psychosis (GROUP) consortium in the Netherlands; 80 participants by the Cooperative Research Centre (CRC) in Australia; 50 participants by Hacettepe University in Turkey; and 30 participants by Mental Health Services Rivierduinen in the Netherlands." . _:1ef52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of clozapine-treated patients with schizophrenia recruited by the Cooperative Research Centre from inpatient and outpatient clinics around Melbourne, Australia, with symptom severity (PANSS) assessments, contributing to genetic studies of clozapine treatment outcome."; "PMID:35393395"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ef62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 80; "clozapine-treated participants recruited by the CRC and included in the 2022 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989876/fullTextXML"; rdfs:comment "Participants (N = 804) came from five independent cohorts: 470 participants were recruited by the Clozapine International (CLOZIN) [38–41] consortium in the Netherlands, Germany, Austria, and Finland; 174 participants by the Genetic Risk and Outcome of Psychosis (GROUP) consortium in the Netherlands; 80 participants by the Cooperative Research Centre (CRC) in Australia; 50 participants by Hacettepe University in Turkey; and 30 participants by Mental Health Services Rivierduinen in the Netherlands." . _:1ef72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8260, _:genid-371333f489424440b12a13b9d98ced822608-genid8262; , , , , , , , ; "GCST90012795"; "An international consortium of cohorts of European and Asian ancestry that pools cohort-level genome-wide association results to study refractive error, myopia and ocular biometric traits such as axial length and corneal curvature."; 44042; "CREAM"; ; rdfs:label "Consortium for Refractive Error and Myopia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8260 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ef82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8260; "myopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7081241/fullTextXML"; rdfs:comment "Thus, we conducted the largest GWAS meta-analysis of CC to date, incorporating both European and Asian cohorts in a single analysis from the Consortium for Refractive Error and Myopia (CREAM) and validated our findings in the United Kingdom (UK) Biobank." . _:1ef92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8262; "refractive error"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7081241/fullTextXML"; rdfs:comment "Thus, we conducted the largest GWAS meta-analysis of CC to date, incorporating both European and Asian cohorts in a single analysis from the Consortium for Refractive Error and Myopia (CREAM) and validated our findings in the United Kingdom (UK) Biobank." . _:1efa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "Fourteen population-based CREAM cohorts that had exome chip genotypes on individuals with refractive error measurements were used in this study. These 14 cohorts were: Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS)" . _:1efb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "Fourteen population-based CREAM cohorts that had exome chip genotypes on individuals with refractive error measurements were used in this study. These 14 cohorts were: Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS), Rotterdam Study I (RSI), Erasmus Rucphen Family (ERF), Raine Eye Health Study (REHS) of the Raine Study, Beaver Dam Eye Study (BDES), Estonian Genome Center for the University of Tartu (EGCUT), Finnish Twin Study on Aging (FITSA), Ogliastra, Croatia-Korcula, TwinsUK, and EPIC-Norfolk." . _:1efc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4551475/fullTextXML"; rdfs:comment "The CREAM meta-analysis included data from 32 studies: 1958 British Birth Cohort, ALSPAC (mothers), ANZRAG, AREDS1a1b, AREDS1c, Beijing Eye Study, BMES, CROATIA-Korcula, CROATIA-Split, CROATIA-Vis, DCCT, EGCUT, ERF, FECD, FITSA, Framingham, GHS 1, GHS 2, KORA, OGP Talana, ORCADES, RS1, RS2, RS3, SCES, SIMES, SINDI, SP2, TEST/BATS, TwinsUK, WESDR, and YFS." . _:1efd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0127-7/MediaObjects/41588_2018_127_MOESM1_ESM.pdf"; rdfs:comment "FECD United States case-control (controls only) 393 71.50(9.18) 60.2 -0.14(2.49)" . _:1efe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://doi.org/10.1017/thg.2012.96"; rdfs:comment "The Australian twins from both the ATES and GEM study are also part of the newly formed Consortium of Refractive Error and Myopia (CREAM) that brings together 31 cohorts representing four continents and 55,177 individuals, with the aim to identify genes and gene variants associated with myopia and its related sub-phenotypes." . _:1eff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3772747/"; rdfs:comment "Myopia Genomics Study (Hong Kong HTI)" . _:1f002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10203044/supplementaryFiles"; rdfs:comment "OGP Ogliastra Genetic Park Talana Study Italy 509 51.43 (19.51) 59.2 -0.10 (1.67)" . _:1f012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs42003-020-0802-y/MediaObjects/42003_2020_802_MOESM1_ESM.pdf"; rdfs:comment "The Strabismus, Amblyopia and Refractive Error Study in Singaporean Chinese Preschoolers (STARS) Family study is a family-based study nested in a prevalence survey of Singaporean preschool children (n=3,009)" . _:1f022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90012795"; "Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error."; "PMID:32193507", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7081241/fullTextXML"; rdfs:comment "Thus, we conducted the largest GWAS meta-analysis of CC to date, incorporating both European and Asian cohorts in a single analysis from the Consortium for Refractive Error and Myopia (CREAM) and validated our findings in the United Kingdom (UK) Biobank." . _:1f032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of cohorts of European and Asian ancestry that pools cohort-level genome-wide association results to study refractive error, myopia and ocular biometric traits such as axial length and corneal curvature."; "PMID:32193507"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 44042; "European and Asian ancestry individuals in the 2020 corneal curvature GWAS meta-analysis"; "PMID:32193507"; rdfs:comment "Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data." . _:1f052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CREAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8276, _:genid-371333f489424440b12a13b9d98ced822608-genid8278, _:genid-371333f489424440b12a13b9d98ced822608-genid8280, _:genid-371333f489424440b12a13b9d98ced822608-genid8282, _:genid-371333f489424440b12a13b9d98ced822608-genid8284; , ; "GCST90428625"; "A population-based cohort study in Doetinchem, the Netherlands, started by the Dutch National Institute for Public Health and the Environment (RIVM) as a monitoring study of cardiovascular risk factors, in which 12,404 inhabitants aged 20–59, drawn as an age- and sex-stratified sample of the population register, were examined in 1987–1991 and two-thirds of them were re-invited to repeated rounds, to study lifestyle and other determinants of health, functioning and chronic disease over the life course."; "The acronym DCS also denotes Hoorn Diabetes Care System (COHO:0000092); this term is Doetinchem Cohort Study."@en; 12404; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/DCS"; "DCS", "Doetinchem", "Doetinchem Cohort", "Doetinchem Cohort Studie"; , ; rdfs:label "Doetinchem Cohort Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid8276 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8278 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8280 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8282 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8284 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8276; "alcohol consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "Originated from a monitoring study on cardiovascular disease risk factors, the Doetinchem Cohort study has been expanded to a study on lifestyle and other determinants of chronic conditions and ageing, with individual data covering 25 years." . _:1f072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8278; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "Originated from a monitoring study on cardiovascular disease risk factors, the Doetinchem Cohort study has been expanded to a study on lifestyle and other determinants of chronic conditions and ageing, with individual data covering 25 years." . _:1f082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8280; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "Originated from a monitoring study on cardiovascular disease risk factors, the Doetinchem Cohort study has been expanded to a study on lifestyle and other determinants of chronic conditions and ageing, with individual data covering 25 years." . _:1f092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8282; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "Originated from a monitoring study on cardiovascular disease risk factors, the Doetinchem Cohort study has been expanded to a study on lifestyle and other determinants of chronic conditions and ageing, with individual data covering 25 years." . _:1f0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8284; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "Originated from a monitoring study on cardiovascular disease risk factors, the Doetinchem Cohort study has been expanded to a study on lifestyle and other determinants of chronic conditions and ageing, with individual data covering 25 years." . _:1f0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "The Doetinchem Cohort Study is carried out by the Dutch National Institute for Public Health and the Environment." . _:1f0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428625"; "Circulating anti-Müllerian hormone levels in pre-menopausal women: novel genetic insights from a genome-wide association meta-analysis."; "PMID:38815977", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11759094/fullTextXML"; rdfs:comment "cardiovascular disease in women: results from the Doetinchem Cohort" . _:1f0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study in Doetinchem, the Netherlands, started by the Dutch National Institute for Public Health and the Environment (RIVM) as a monitoring study of cardiovascular risk factors, in which 12,404 inhabitants aged 20–59, drawn as an age- and sex-stratified sample of the population register, were examined in 1987–1991 and two-thirds of them were re-invited to repeated rounds, to study lifestyle and other determinants of health, functioning and chronic disease over the life course."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13387599/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12404; "inhabitants examined at baseline, 1987-1991"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837330/fullTextXML"; rdfs:comment "In 1987 it started with an age-sex-stratified sample (20–59 years) of the inhabitants of Doetinchem, a mid-size Dutch town, of whom 12 404 (62%) participated in the baseline examination between 1987 and 1991." . _:1f0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCS"; . _:1f102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Doetinchem"; . _:1f112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Doetinchem Cohort Studie"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8293, _:genid-371333f489424440b12a13b9d98ced822608-genid8295; , ; "GCST90095141"; "A clinic-based case-control study of self-identified Latino children and young adults aged 8–22 years with and without asthma, recruited at centres in the mainland United States and Puerto Rico under the University of California, San Francisco, to study the genetic and environmental basis of childhood-onset asthma."; 4157; "GALA II", "GALA_II", "Genes- Environments & Admixture in Latino Americans study"; ; rdfs:label "Genes-environments & Admixture in Latino Americans"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8293 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8295 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8293; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "Cases were subjects with a physician diagnosis of asthma and manifestations of symptoms within the two years before recruitment, while controls were selected based on the absence of a medical history of asthma, allergic diseases, or other respiratory affections." . _:1f132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8295; "environmental basis of childhood-onset asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "GALA II and SAGE are two clinic-based case-control studies focused on untangling the genetic and environmental basis of childhood-onset asthma disease in minority ethnic groups of the United States of America [22]." . _:1f142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "Recruitment was performed in different centers throughout mainland United States and Puerto Rico for GALA II subjects, while SAGE participants were recruited in the San Francisco Bay Area." . _:1f152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095141"; "Role of Sex on the Genetic Susceptibility to Childhood Asthma in Latinos and African Americans."; "PMID:34834492", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8625344/fullTextXML"; rdfs:comment "The genetic role of sex on asthma susceptibility was assessed in the Genes-environments & Admixture in Latino Americans (GALA II) and the Study of African Americans, Asthma, Genes, and Environments (SAGE) studies [22]." . _:1f162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case-control study of self-identified Latino children and young adults aged 8–22 years with and without asthma, recruited at centres in the mainland United States and Puerto Rico under the University of California, San Francisco, to study the genetic and environmental basis of childhood-onset asthma."; "PMID:34834492"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4157; "participants enrolled 2006-2011 (cases and controls)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3778732/"; rdfs:comment "Results The GALA II and SAGE II studies have enrolled 4,157 and 1,281 participants, respectively, from 2006 to 2011." . _:1f182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GALA II"; . _:1f192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GALA_II"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8303, _:genid-371333f489424440b12a13b9d98ced822608-genid8305; , ; "GCST90797639"; "A population-based Dutch birth cohort of children of almost 3,000 pregnant women living in the province of Drenthe in the northern Netherlands, recruited in 2006, followed to study early risk factors for overweight and obesity in childhood."; 2842; "GECKO Drenthe", "GECKO Drenthe birth cohort", "GECKO Drenthe cohort", "Gecko Drenthe", "The Groningen Expert Center for Kids with Obesity Drenthe study"; ; rdfs:label "Groningen Expert Center for Kids with Obesity Drenthe study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8303 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8305 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8303; "overweight"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9250228/fullTextXML"; rdfs:comment "The GECKO (Groningen Expert Center for Kids with Obesity) Drenthe study is a population-based birth cohort with a focus on early risk factors for overweight and obesity." . _:1f1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8305; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9250228/fullTextXML"; rdfs:comment "The GECKO (Groningen Expert Center for Kids with Obesity) Drenthe study is a population-based birth cohort with a focus on early risk factors for overweight and obesity." . _:1f1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9250228/fullTextXML"; rdfs:comment "In 2006, almost three thousand pregnant women living in the Province of Drenthe, the Netherlands, were recruited." . _:1f1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "Gecko Drenthe the Groningen Expert Center for Kids with Obesity (GECKO) Drenthe study Drenthe, The Netherlands" . _:1f1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based Dutch birth cohort of children of almost 3,000 pregnant women living in the province of Drenthe in the northern Netherlands, recruited in 2006, followed to study early risk factors for overweight and obesity in childhood."; "PMID:35778749"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2842; "children actively participating (born April 2006 - April 2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8232591/fullTextXML"; rdfs:comment "Of the 5326 children born between April 2006 and April 2007, 2842 started active participation in the study." . _:1f202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GECKO Drenthe"; . _:1f212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gecko Drenthe"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8313, _:genid-371333f489424440b12a13b9d98ced822608-genid8315, _:genid-371333f489424440b12a13b9d98ced822608-genid8317, _:genid-371333f489424440b12a13b9d98ced822608-genid8319, _:genid-371333f489424440b12a13b9d98ced822608-genid8321, _:genid-371333f489424440b12a13b9d98ced822608-genid8323, _:genid-371333f489424440b12a13b9d98ced822608-genid8325; , ; "GCST90454254"; "A Swedish population-based case-control study of multiple sclerosis in which prevalent cases fulfilling the McDonald criteria were identified from the Swedish MS registry and controls were randomly selected from the national population register, with lifestyle and environmental questionnaires and blood samples for genetic analyses."; "The acronym GEMS also denotes Genetic Epidemiology of Metabolic Syndrome Study (COHO:0001772); this term is Genes and Environment in Multiple Sclerosis."@en; 6156; 5408; "GEMS", "GEnMS", "Genes and Environment for MS", "Genes and Environment in MS"; ; rdfs:label "Genes and Environment in Multiple Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8313 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8315 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8321 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8323 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8325 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8313; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244060/fullTextXML"; rdfs:comment "GEMS identified prevalent cases fulfilling the McDonald criteria from the Swedish National MS registry." . _:1f232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8315; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8317; "passive smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8319; "combustion-related air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8321; "sun exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8323; "alcohol"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8325; "environmental exposures and lifestyle factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244060/fullTextXML"; rdfs:comment "We used data from Epidemiological Investigation of Multiple Sclerosis (EIMS) and Genes and Environment in Multiple Sclerosis (GEMS), which are Swedish population-based, case-control studies." . _:1f2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454254"; "Genetics of immune response to Epstein-Barr virus: prospects for multiple sclerosis pathogenesis."; "PMID:38630618", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "GEMS and EIMS are nationwide case-control studies examining the genetic and environmental risk factors for prevalent and incident MS, respectively." . _:1f2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Swedish population-based case-control study of multiple sclerosis in which prevalent cases fulfilling the McDonald criteria were identified from the Swedish MS registry and controls were randomly selected from the national population register, with lifestyle and environmental questionnaires and blood samples for genetic analyses."; "PMID:36629499"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6156; "cases and controls with completed GEMS questionnaires, recruited 2009-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7176247/fullTextXML"; rdfs:comment "Completed GEMS questionnaires were obtained from 6,156 cases and 5,408 controls, with a response rate of 82% for cases and 66% for controls." . _:1f2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5408; "cases and controls with completed GEMS questionnaires, recruited 2009-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7176247/fullTextXML"; rdfs:comment "Completed GEMS questionnaires were obtained from 6,156 cases and 5,408 controls, with a response rate of 82% for cases and 66% for controls." . _:1f2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEMS"; . _:1f2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEnMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8334; , ; "GCST90797639"; "A prospective cohort of normotensive children of African or European ancestry aged 5–16 years in 1989, recruited through a county-wide public school screening in Richmond County, Georgia, United States, and re-evaluated repeatedly into adulthood to study the development of cardiovascular risk factors from childhood to adulthood."; 740; "GSH", "Georgia Stress and Heart study"; ; rdfs:label "Georgia Stress and Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8334 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8334; "cardiovascular disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6355367/unicode"; rdfs:comment "The participants were from the Georgia Stress and Heart (GSH) study, an ongoing longitudinal study designed to evaluate the development of cardiovascular risk factors from childhood to adulthood" . _:1f312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6355367/unicode"; rdfs:comment "All participants were recruited using family health history questionnaires obtained from a county-wide (Richmond County, Georgia) public school screening of children in kindergarten through grade 8 whose families were interested in health research." . _:1f322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "GPI (GSH, EpiGO, LACHY) GSH (Georgia Stress and Heart) European American (50% of children) Longitudinal cohort Augusta, Georgia, USA" . _:1f332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of normotensive children of African or European ancestry aged 5–16 years in 1989, recruited through a county-wide public school screening in Richmond County, Georgia, United States, and re-evaluated repeatedly into adulthood to study the development of cardiovascular risk factors from childhood to adulthood."; "PMID:30234784"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 740; "participants in the original cohort, rolling enrollment from 1989"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12564484/fullTextXML"; rdfs:comment "The original cohort consisted of 740 participants and began rolling enrollment in 1989." . _:1f352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSH"; . a owl:NamedIndividual, ; , , ; ; "GCST90246328"; "A longitudinal population study of more than 5000 adults aged 40 and older in Bushbuckridge, rural Mpumalanga, South Africa, recruited in 2014–2015 within the Agincourt Health and Demographic Surveillance System, collecting socio-demographic, infection history and cognitive data to study health and ageing."; 5059; "HAALSI", "Health and Aging in Africa: A Longitudinal Study of an INDEPTH Community in South Africa"; ; rdfs:label "Health and Ageing in Africa: A Longitudinal Study of an INDEPTH Community in South Africa"@en . _:1f362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10043003/fullTextXML"; rdfs:comment "Socio-demographic data, infection history, and cognitive performance data were collected from 5059 consented participants (male (n = 2345) and female (n = 2714)) aged 40 years and older recruited from Bushbuckridge, Mpumalanga (November 2014 to November 2015) and a sub-set of 2246 of these participants (male (n = 935) and female (n = 1311)) had genotype data." . _:1f372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10043003/fullTextXML"; rdfs:comment "HAALSI was funded by the National Institute on Aging (P01 AG041710) nested within the Agincourt Health and Demographic Surveillance System supported by the University of the Witwatersrand and Medical Research Council, South Africa, and the Wellcome Trust, UK (grants 058893/Z/99/A; 069683/Z/02/Z; 085477/Z/08/Z; 085477/B/08/Z)." . _:1f382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90246328"; "Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community."; "PMID:36973338", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10043003/fullTextXML"; rdfs:comment "A Longitudinal Study of an INDEPTH Community in South Africa (HAALSI) collected baseline cognition data for over 5000 older adults in Bushbuckridge, rural Mpumalanga, South Africa (SA)36." . _:1f392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal population study of more than 5000 adults aged 40 and older in Bushbuckridge, rural Mpumalanga, South Africa, recruited in 2014–2015 within the Agincourt Health and Demographic Surveillance System, collecting socio-demographic, infection history and cognitive data to study health and ageing."; "PMID:36973338"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5059; "consented participants aged 40+ at baseline, 2014-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10043003/fullTextXML"; rdfs:comment "Socio-demographic data, infection history, and cognitive performance data were collected from 5059 consented participants (male (n = 2345) and female (n = 2714)) aged 40 years and older recruited from Bushbuckridge, Mpumalanga (November 2014 to November 2015) and a sub-set of 2246 of these participants (male (n = 935) and female (n = 1311)) had genotype data." . _:1f3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAALSI"; . a owl:NamedIndividual, ; ; , , ; ; "PMID:22933647"; "A health and socio-demographic surveillance system of about 90,000 people in rural northeast South Africa close to the Mozambique border, established in 1992, which updates resident status and vital events annually and hosts observational cohorts and trials across the life course on health, population and social transitions."; 90000; "Agincourt HDSS", "Agincourt Health and Demographic Surveillance System", "Agincourt health and socio-demographic surveillance system"; rdfs:label "Agincourt Health and Socio-demographic Surveillance System"@en . _:1f3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933647+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Agincourt health and socio-demographic surveillance system (HDSS), located in rural northeast South Africa close to the Mozambique border, was established in 1992 to support district health systems development led by the post-apartheid ministry of health." . _:1f3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22933647"; "Profile: Agincourt health and socio-demographic surveillance system."; "PMID:22933647", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22933647+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Agincourt health and socio-demographic surveillance system (HDSS), located in rural northeast South Africa close to the Mozambique border, was established in 1992 to support district health systems development led by the post-apartheid ministry of health." . _:1f3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A health and socio-demographic surveillance system of about 90,000 people in rural northeast South Africa close to the Mozambique border, established in 1992, which updates resident status and vital events annually and hosts observational cohorts and trials across the life course on health, population and social transitions."; "PMID:22933647"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 90000; "people under surveillance (de jure population), mid-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3429877/fullTextXML"; rdfs:comment "By mid-2011, the population under surveillance comprised 90 000 people residing in 16 000 households in 27 villages (Table 2)." . _:1f402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Agincourt HDSS"; . a owl:NamedIndividual, ; , ; "GCST90277442"; "A population-based cohort of 3,471 adults aged 18–69, randomly sampled from the Danish Central Personal Register in the southern part of Copenhagen and examined in 2006–2008 at the Research Centre for Prevention and Health in Glostrup, Denmark, to study general health, allergy, diabetes and cardiovascular disease."; 3471; "Health2006", "Health2006 cohort"; ; rdfs:label "Health2006 Study"@en . _:1f412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5300151/fullTextXML"; rdfs:comment "They were recruited from the Danish Central Personal Register as random samples of the population in the southern part of Copenhagen and included questionnaires, physical examinations, and blood tests as previously described in detail [9,10]." . _:1f422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90277442"; "Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets."; "PMID:23754956", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3674994/fullTextXML"; rdfs:comment "Health2006 is a population-based epidemiological study of general health, diabetes and cardiovascular disease of 3,471 individuals aged 18–74 years [48]." . _:1f432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of 3,471 adults aged 18–69, randomly sampled from the Danish Central Personal Register in the southern part of Copenhagen and examined in 2006–2008 at the Research Centre for Prevention and Health in Glostrup, Denmark, to study general health, allergy, diabetes and cardiovascular disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3674994/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5300151/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3471; "persons examined 2006-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5300151/fullTextXML"; rdfs:comment "A total of 3,471 (43.8%) persons were examined from 2006–2008." . _:1f452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health2006"; . a owl:NamedIndividual, ; , ; "GCST90013452"; "A longitudinal population-based study of 5,133 adults from the German city of Heidelberg and its surroundings, started in the 1990s with a baseline battery of health-related personality questionnaires to characterise associations between personality and somatic disease, and later followed up and genotyped."; 5133; "HeiDE", "HeiDE study"; ; rdfs:label "Heidelberger Langzeitstudie zu Risikofaktoren und Diagnose chronischer Erkrankungen"@en . _:1f462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8503053/fullTextXML"; rdfs:comment "Briefly, HeiDE (‘Heidelberger Langzeitstudie zu Risikofaktoren und Diagnose chronischer Erkrankungen’) is a population-based study carried out in the German city of Heidelberg and surrounding area with an initial aim of characterising associations of personality and somatic disease." . _:1f472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013452"; "The Heidelberg Five personality dimensions: Genome-wide associations, polygenic risk for neuroticism, and psychopathology 20 years after assessment."; "PMID:33590662", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33590662+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "HeiDE is a longitudinal population-based study that started in the 1990s and, at baseline, assessed an array of health-related personality questionnaires in 5133 individuals." . _:1f482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal population-based study of 5,133 adults from the German city of Heidelberg and its surroundings, started in the 1990s with a baseline battery of health-related personality questionnaires to characterise associations between personality and somatic disease, and later followed up and genotyped."; "PMID:33590662", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8503053/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5133; "individuals assessed at baseline (1990s)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33590662+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "HeiDE is a longitudinal population-based study that started in the 1990s and, at baseline, assessed an array of health-related personality questionnaires in 5133 individuals." . _:1f4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HeiDE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8362; , , , , , , , ; "GCST90827692"; "A global collaboration of 51 studies from 11 countries with genome-wide genotyping and data on heart failure events and prognosis, including population-based cohorts, hospital-based electronic health record cohorts, case-control studies and clinical trials, formed to conduct large-scale genetic association studies of heart failure risk, prognosis and subtypes."; 68157; 949888; "HERMES", "HERMES Consortium", "Heart Failure Molecular Epidemiology for Therapeutic Targets"; ; rdfs:label "Heart Failure Molecular Epidemiology for Therapeutic Targets Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8362 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8362; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34480422+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure." . _:1f4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13211948/fullTextXML"; rdfs:comment "Twenty-two cohorts participating in the Heart Failure Molecular Epidemiology for Therapeutic Targets (HERMES) Consortium, comprising 50,636 individuals with established HF of European ancestry, were included in the genetic study (Supplemental Table 2).27 Twelve were HF cohorts (trials or prospective research cohorts), 9 were nested HF cohorts within non-HF cardiovascular trials or cohorts, and 1 cohort was derived from individuals in the UK Biobank with genetic data." . _:1f4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "The Cardiovascular Health Study (CHS) is a population-based cohort study of risk factors for heart disease and stroke in adults ≥65 years conducted across four field centers." . _:1f4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "The Framingham Heart Study (FHS) is a community-based cohort that enrolled three generations of participants." . _:1f4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "The BioVU cohort consisted of patients at Vanderbilt University Medical Center who have consented to be a part of the program." . _:1f502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "The deCODE Icelandic heart failure (HF) sample set included patients diagnosed with HF at Landspitali – The National University Hospital (LUH) in Reykjavik and the Primary Health Care Clinics of the Reykjavik capital region, following ICD-9 and ICD-10 codes for heart failure, as described in this manuscript." . _:1f512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "The Henry Ford Heart Failure Pharmacogenomic Registry (HFPGR) was approved by the Institutional Review Board at the Henry Ford Health System, and all patients gave written informed consent prior to participation." . _:1f522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "TRIUMPH (TRanslational Initiative on Unique and novel strategies for Management of Patients with Heart failure, NTR1893), is an observational prospective study of patients admitted with acute HF in 14 hospitals in the Netherlands between September 2009 and December 2013." . _:1f532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8712846/fullTextXML"; rdfs:comment "Of the nine case collections, seven were primarily focused on HF while two identified HF cases from an at‐risk population (COGEN and LURIC)." . _:1f542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90827692"; "Body Mass Index, Clinical Outcomes, and Mortality in Heart Failure: A Mendelian Randomization Study."; "PMID:42017882", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13211948/fullTextXML"; rdfs:comment "Twenty-two cohorts participating in the Heart Failure Molecular Epidemiology for Therapeutic Targets (HERMES) Consortium, comprising 50,636 individuals with established HF of European ancestry, were included in the genetic study (Supplemental Table 2)." . _:1f552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A global collaboration of 51 studies from 11 countries with genome-wide genotyping and data on heart failure events and prognosis, including population-based cohorts, hospital-based electronic health record cohorts, case-control studies and clinical trials, formed to conduct large-scale genetic association studies of heart failure risk, prognosis and subtypes."; "PMID:34480422"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 68157; "HF cases and controls of European ancestry across the 51 member cohorts (2021 design paper)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8712846/fullTextXML"; rdfs:comment "In aggregate, the 51 HERMES cohorts comprise 68 157 HF cases and 949 888 controls of European ancestry with array‐based genotyping (Supporting Information, Table S1 )." . _:1f572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 949888; "HF cases and controls of European ancestry across the 51 member cohorts (2021 design paper)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8712846/fullTextXML"; rdfs:comment "In aggregate, the 51 HERMES cohorts comprise 68 157 HF cases and 949 888 controls of European ancestry with array‐based genotyping (Supporting Information, Table S1 )." . _:1f582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HERMES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8377; "GCST90310210"; "A large international consortium established to identify glaucoma risk genes through large-scale genome-wide meta-analysis of primary open-angle glaucoma and related traits such as intraocular pressure, vertical cup-to-disc ratio and central corneal thickness, across populations of European, Asian and African ancestry."; 34179; 349321; "IGGC", "International Glaucoma Genetic Consortium"; ; rdfs:label "International Glaucoma Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8377; "glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10335935/fullTextXML"; rdfs:comment "The IGGC is a large international consortium established to identify glaucoma genetic risk genes through large-scale meta-analysis43,44." . _:1f5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90310210"; "Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci."; "PMID:37386247", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10335935/fullTextXML"; rdfs:comment "The IGGC is a large international consortium established to identify glaucoma genetic risk genes through large-scale meta-analysis43,44." . _:1f5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A large international consortium established to identify glaucoma risk genes through large-scale genome-wide meta-analysis of primary open-angle glaucoma and related traits such as intraocular pressure, vertical cup-to-disc ratio and central corneal thickness, across populations of European, Asian and African ancestry."; "PMID:35446358", "PMID:37386247"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 34179; "POAG cases and controls in the 2021 multi-ancestry meta-analysis (21 studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7904932/fullTextXML"; rdfs:comment "We obtained 34,179 POAG cases and 349,321 controls including participants of European, Asian, and African descent from 21 independent studies across the world." . _:1f5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 349321; "POAG cases and controls in the 2021 multi-ancestry meta-analysis (21 studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7904932/fullTextXML"; rdfs:comment "We obtained 34,179 POAG cases and 349,321 controls including participants of European, Asian, and African descent from 21 independent studies across the world." . _:1f5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8384; "GCST90854196"; "A multinational study that recruited HIV-1 controllers, people with HIV whose plasma viral load stays below 2000 RNA copies/ml (at least three measurements over at least 12 months) without antiretroviral therapy, for genome-wide association analysis of host genetic effects on the control of HIV infection."; "The acronym IHCS also denotes Intermountain Heart Collaborative Study (COHO:0000565); this term is International HIV Controllers Study."@en; 974; 2648; "ICSC", "IHCS", "IHIVCS", "International HIV controllers Study Cohort"; ; rdfs:label "International HIV Controllers Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8384 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8384; "HIV infection"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3235490/unicode"; rdfs:comment "To determine the genetic basis for this rare phenomenon, we established a multinational consortium (www.hivcontrollers.org) to recruit HIV-1 controllers, who are defined by at least three measurements of plasma virus load (VL) < 2000 RNA copies/ml over at least a 12-month period in the absence of antiviral therapy." . _:1f602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90854196"; "Multiancestry sex-stratified genomic associations with HIV viral load and controller status from the ICGH."; "PMID:37097752", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10393222/fullTextXML"; rdfs:comment "We additionally used a binary definition of HIV spontaneous control in the subset of samples obtained from the International HIV Controllers Study and the AIDS Clinical Trials Group (Supplemental Table 1) (17)." . _:1f612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational study that recruited HIV-1 controllers, people with HIV whose plasma viral load stays below 2000 RNA copies/ml (at least three measurements over at least 12 months) without antiretroviral therapy, for genome-wide association analysis of host genetic effects on the control of HIV infection."; "PMID:21051598"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 974; "HIV controllers (cases) and progressors (controls) after QC in the 2010 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3235490/"; rdfs:comment "After quality control and imputation on the basis of HapMap Phase 3 (3), we obtained data on 1,384,048 single-nucleotide polymorphisms (SNPs) in 974 controllers (cases) and 2648 progressors (controls) from multiple populations (table S1)." . _:1f632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2648; "HIV controllers (cases) and progressors (controls) after QC in the 2010 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3235490/"; rdfs:comment "After quality control and imputation on the basis of HapMap Phase 3 (3), we obtained data on 1,384,048 single-nucleotide polymorphisms (SNPs) in 974 controllers (cases) and 2648 progressors (controls) from multiple populations (table S1)." . _:1f642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICSC"; . _:1f652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IHCS"; . _:1f662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IHIVCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8393; , ; ; "GCST90454254"; "A set of Swedish post-marketing (phase IV) cohorts of patients with multiple sclerosis treated with novel disease-modifying drugs, followed through the Swedish MS registry to monitor the long-term safety and risks of immunomodulatory treatments."; "IMSE", "Immunomodulation and MS Epidemiology", "Immunomodulation and Multiple Sclerosis Epidemiology study"; ; rdfs:label "Immunomodulation and Multiple Sclerosis Epidemiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8393 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8393; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4657484/fullTextXML"; rdfs:comment "Current projects include an incidence cohort (EIMS), post-marketing cohorts of patients on novel disease-modifying drugs (IMSE), and a prevalence cohort (GEMS)." . _:1f682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "Descriptive statistics include age at sampling, sex (male:female), distribution of Epstein-Barr virus (EBV) serology and infectious mononucleosis (IM) history stratified by multiple sclerosis (MS) cases and population-matched controls from four Swedish cohorts (GEMS, EIMS, IMSE, and STOP-MS)." . _:1f692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4657484/fullTextXML"; rdfs:comment "Current projects include an incidence cohort (EIMS), post-marketing cohorts of patients on novel disease-modifying drugs (IMSE), and a prevalence cohort (GEMS)." . _:1f6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454254"; "Genetics of immune response to Epstein-Barr virus: prospects for multiple sclerosis pathogenesis."; "PMID:38630618", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449136/fullTextXML"; rdfs:comment "IMSE is an ongoing phase IV clinical trial that monitors long-term safety and risk of immunomodulatory treatments for MS." . _:1f6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A set of Swedish post-marketing (phase IV) cohorts of patients with multiple sclerosis treated with novel disease-modifying drugs, followed through the Swedish MS registry to monitor the long-term safety and risks of immunomodulatory treatments."; "PMID:26046553"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMSE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8400; , , , , , , , , , , , , , , , ; "GCST90133316"; "An international research alliance founded in 2009 of more than 100 scientists who pool genetic, clinical and functional data from Parkinson's disease case-control cohorts worldwide for collaborative genetics research on Parkinson's disease, with recent efforts in East Asia and Africa."; 37688; 1400000; "IPDGC", "International Parkinson's Disease Genomics Consortium"; ; rdfs:label "International Parkinson Disease Genomics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8400 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8400; "Parkinson disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7029327/fullTextXML"; rdfs:comment "This work has centered on available genome wide SNP genotyping of IPDGC members case and control cohorts from the USA, Canada, England, Wales, The Netherlands, France, Germany, Italy, Spain, Austria, Finland, Norway, Estonia, and Australia (Fig. 1)." . _:1f6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7029327/fullTextXML"; rdfs:comment "This work has centered on available genome wide SNP genotyping of IPDGC members case and control cohorts from the USA, Canada, England, Wales, The Netherlands, France, Germany, Italy, Spain, Austria, Finland, Norway, Estonia, and Australia" . _:1f6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90133316"; "Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium."; "PMID:35970579", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9484604/fullTextXML"; rdfs:comment "This was followed by combining our study with the largest publicly available European ancestry dataset compiled by the International Parkinson Disease Genomics Consortium (IPDGC)." . _:1f702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international research alliance founded in 2009 of more than 100 scientists who pool genetic, clinical and functional data from Parkinson's disease case-control cohorts worldwide for collaborative genetics research on Parkinson's disease, with recent efforts in East Asia and Africa."; "PMID:31815703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 37688; "PD cases and controls in the 2019 European-ancestry GWAS meta-analysis (17 datasets), 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31701892+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls." . _:1f722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1400000; "PD cases and controls in the 2019 European-ancestry GWAS meta-analysis (17 datasets), 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31701892+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls." . _:1f732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPDGC"; . a owl:NamedIndividual, ; , , ; "GCST90239651"; "A collection of 2994 healthy Japanese volunteers assembled by the Japan Pharmacogenomics Data Science Consortium, with genotypes of 2.5 million SNPs and 5 HLA loci and 121 kinds of clinical information, as control data for pharmacogenomics studies of drug safety and efficacy."; 2994; "JPDSC", "JPDSC database", "Japan Pharmacogenomics Data Science Consortium"; ; rdfs:label "Japan PGx Data Science Consortium Database"@en . _:1f742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25855068+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The database contains the genotypes of 2.5 million single-nucleotide polymorphisms (SNPs) and 5 human leukocyte antigen loci from 2994 Japanese healthy volunteers, as well as 121 kinds of clinical information, including self-reports, physiological data, hematological data and biochemical data." . _:1f752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239651"; "The power of genetic diversity in genome-wide association studies of lipids."; "PMID:34887591", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "Japan PGx Data Science Consortium" . _:1f762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 2994 healthy Japanese volunteers assembled by the Japan Pharmacogenomics Data Science Consortium, with genotypes of 2.5 million SNPs and 5 HLA loci and 121 kinds of clinical information, as control data for pharmacogenomics studies of drug safety and efficacy."; "PMID:25855068"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2994; "healthy Japanese volunteers genotyped (2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25855068+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The database contains the genotypes of 2.5 million single-nucleotide polymorphisms (SNPs) and 5 human leukocyte antigen loci from 2994 Japanese healthy volunteers, as well as 121 kinds of clinical information, including self-reports, physiological data, hematological data and biochemical data." . _:1f782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JPDSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8413; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90244158"; "A randomized, double-blind, placebo-controlled trial of rosuvastatin 20 mg daily for the primary prevention of cardiovascular disease in 17,802 apparently healthy men aged 50 or over and women aged 60 or over with low LDL cholesterol but elevated high-sensitivity C-reactive protein, funded by AstraZeneca and stopped early for efficacy after a median follow-up of 1.9 years."; 17802; "JUPITER", "JUPITER trial", "Jupiter", "Justification for Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin", "Justification for the Use of Statins in Primary Prevention: An Intervention Trial Evaluating Rosuvastatin"; ; rdfs:label "Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8413 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8413; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7660788/fullTextXML"; rdfs:comment "JUPITER was a randomized, double‐blind, placebo‐controlled trial of rosuvastatin 20 mg daily versus placebo in the primary prevention of CVD in 17 802 asymptomatic men ≥50 years and women ≥60 years with low‐density lipoprotein cholesterol (LDL‐C) <130 mg/dL and hsCRP (high‐sensitivity C‐reactive protein) ≥2.0 mg/L who were monitored for a median follow‐up period of 1.9 years (maximum 5 years)." . _:1f7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "Multiple: USA, UK, Argentina, Belgium, Brazil, Bulgaria, Canada, Chile, Colombia, Costa Rica, Denmar, El Salvador, Estonia, Germany, Israel, Mexico, Netherlands, Norway, Panama, Poland, Romania, Russia, South Africa, Switzerland, United Kingdom, Uruguay, USA" . _:1f7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244158"; "Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors."; "PMID:36154123", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10152894/unicode"; rdfs:comment "An Intervention Trial Evaluating Rosuvastatin (JUPITER) Trial." . _:1f7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind, placebo-controlled trial of rosuvastatin 20 mg daily for the primary prevention of cardiovascular disease in 17,802 apparently healthy men aged 50 or over and women aged 60 or over with low LDL cholesterol but elevated high-sensitivity C-reactive protein, funded by AstraZeneca and stopped early for efficacy after a median follow-up of 1.9 years."; "PMID:32799709"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17802; "randomised participants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7660788/fullTextXML"; rdfs:comment "In brief, JUPITER was a randomized, double‐blind, placebo‐controlled trial of rosuvastatin 20 mg daily versus placebo in the primary prevention of CVD in 17 802 asymptomatic men ≥50 years and women ≥60 years with low‐density lipoprotein cholesterol (LDL‐C) <130 mg/dL and hsCRP (high‐sensitivity C‐reactive protein) ≥2.0 mg/L who were monitored for a median follow‐up period of 1.9 years (maximum 5 years)." . _:1f7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JUPITER"; . _:1f7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Jupiter"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8421, _:genid-371333f489424440b12a13b9d98ced822608-genid8423, _:genid-371333f489424440b12a13b9d98ced822608-genid8425, _:genid-371333f489424440b12a13b9d98ced822608-genid8427, _:genid-371333f489424440b12a13b9d98ced822608-genid8429; , ; "GCST90797639"; "A prospective Dutch birth cohort of healthy pregnant women enrolled from October 2000 to 2002, recruited from a cohort study on pregnancy-related pelvic girdle pain ('conventional lifestyles') and, for contrast, through organic food shops, anthroposophic doctors and midwives, Steiner schools and dedicated magazines ('alternative lifestyles'), and their children, set up to identify lifestyle and other early-life factors that influence atopic disease and followed into young adulthood."; 2877; "Child, parents and health: lifestyle and genetic constitution", "KOALA", "Koala Birth Cohort Study"; ; rdfs:label "KOALA Birth Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8421 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8425 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8427 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8429 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8421; "breastfeeding and breast milk composition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16343090+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the KOALA Birth Cohort Study in the Netherlands is to identify factors that influence the clinical expression of atopic disease with a main focus on lifestyle (e.g., anthroposophy, vaccinations, antibiotics, dietary habits, breastfeeding and breast milk composition, intestinal microflora composition, infections during the first year of life, and gene-environment interaction)." . _:1f812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8423; "infections during the first year of life"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16343090+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the KOALA Birth Cohort Study in the Netherlands is to identify factors that influence the clinical expression of atopic disease with a main focus on lifestyle (e.g., anthroposophy, vaccinations, antibiotics, dietary habits, breastfeeding and breast milk composition, intestinal microflora composition, infections during the first year of life, and gene-environment interaction)." . _:1f822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8425; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16343090+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the KOALA Birth Cohort Study in the Netherlands is to identify factors that influence the clinical expression of atopic disease with a main focus on lifestyle (e.g., anthroposophy, vaccinations, antibiotics, dietary habits, breastfeeding and breast milk composition, intestinal microflora composition, infections during the first year of life, and gene-environment interaction)." . _:1f832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8427; "dietary habits (organic, vegetarian)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16343090+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the KOALA Birth Cohort Study in the Netherlands is to identify factors that influence the clinical expression of atopic disease with a main focus on lifestyle (e.g., anthroposophy, vaccinations, antibiotics, dietary habits, breastfeeding and breast milk composition, intestinal microflora composition, infections during the first year of life, and gene-environment interaction)." . _:1f842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8429; "atopic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16343090+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the KOALA Birth Cohort Study in the Netherlands is to identify factors that influence the clinical expression of atopic disease with a main focus on lifestyle (e.g., anthroposophy, vaccinations, antibiotics, dietary habits, breastfeeding and breast milk composition, intestinal microflora composition, infections during the first year of life, and gene-environment interaction)." . _:1f852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13335302/fullTextXML"; rdfs:comment "We used data from the KOALA Birth Cohort Study in the Netherlands." . _:1f862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "KOALA Child, parents and health: lifestyle and genetic constitution Population-based birth cohort The Netherlands" . _:1f872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective Dutch birth cohort of healthy pregnant women enrolled from October 2000 to 2002, recruited from a cohort study on pregnancy-related pelvic girdle pain ('conventional lifestyles') and, for contrast, through organic food shops, anthroposophic doctors and midwives, Steiner schools and dedicated magazines ('alternative lifestyles'), and their children, set up to identify lifestyle and other early-life factors that influence atopic disease and followed into young adulthood."; "PMID:16343090", "PMID:42116128"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2877; "children whose mothers were included, 2000-2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13335302/fullTextXML"; rdfs:comment "In total, mothers of 2,877 children were included in the Koala Birth Cohort Study." . _:1f892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KOALA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8436; , ; , ; "GCST90129576"; "A clinic-based case-control study of breast cancer begun in February 2001 at Mayo Clinic, Rochester, Minnesota, enrolling women aged 18 or over with invasive breast cancer who lived in the six-state region of Mayo Clinic's primary service population, and cancer-free controls frequency-matched on age, race and region from Mayo Clinic's general internal medicine practice."; 6198; 6198; "MCBCS"; ; rdfs:label "Mayo Clinic Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8436 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8436; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3496122/fullTextXML"; rdfs:comment "The Mayo Clinic Breast Cancer Study (MCBCS) is an on-going clinic-based case-control study initiated in February 2001 at Mayo Clinic, Rochester, MN." . _:1f8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3496122/fullTextXML"; rdfs:comment "The Mayo Clinic Breast Cancer Study (MCBCS) is an on-going clinic-based case-control study initiated in February 2001 at Mayo Clinic, Rochester, MN." . _:1f8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The MCBCS was supported by the NIH grants CA192393, CA116167, CA176785" . _:1f8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case-control study of breast cancer begun in February 2001 at Mayo Clinic, Rochester, Minnesota, enrolling women aged 18 or over with invasive breast cancer who lived in the six-state region of Mayo Clinic's primary service population, and cancer-free controls frequency-matched on age, race and region from Mayo Clinic's general internal medicine practice."; "PMID:22226020", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6198; "women with breast cancer (cases) consenting to the MCBCS registry, May 2000 - May 2016; controls not included"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7193748/fullTextXML"; rdfs:comment "Of 7,300 women approached, 6,198 consented to the study and were asked to provide a blood sample and a baseline questionnaire on personal and family history adapted from the Breast Cancer Family Registry." . _:1f8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6198; "women with breast cancer (cases) consenting to the MCBCS registry, May 2000 - May 2016; controls not included"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7193748/fullTextXML"; rdfs:comment "Of 7,300 women approached, 6,198 consented to the study and were asked to provide a blood sample and a baseline questionnaire on personal and family history adapted from the Breast Cancer Family Registry." . _:1f902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8444; , ; ; "GCST90129576"; "A prospective breast screening cohort of 19,924 women aged 35 or over, resident in Minnesota, Iowa or Wisconsin and without a history of breast cancer, enrolled when having a screening mammogram at Mayo Clinic, Rochester, from October 2003 to September 2006, to study mammographic density and breast cancer risk."; 19924; "MMHS"; ; rdfs:label "Mayo Mammography Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8444 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8444; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3701143/fullTextXML"; rdfs:comment "The MMHS prospectively enrolled patients scheduled for a screening mammogram from October 2003 through September 2006 at the Mayo Clinic in Rochester, MN." . _:1f922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3701143/fullTextXML"; rdfs:comment "Women were invited to take part if they were at least 35 years old, residents of Minnesota, Iowa, or Wisconsin (tri-state), and had no personal history of breast cancer." . _:1f932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "We thank the coordinators, the research staff and especially the MMHS participants for their continued collaboration on research studies in breast cancer." . _:1f942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective breast screening cohort of 19,924 women aged 35 or over, resident in Minnesota, Iowa or Wisconsin and without a history of breast cancer, enrolled when having a screening mammogram at Mayo Clinic, Rochester, from October 2003 to September 2006, to study mammographic density and breast cancer risk."; "PMID:23152984"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19924; "women consenting at screening mammography, 2003-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3701143/fullTextXML"; rdfs:comment "Of 38,883 eligible women, 19,924 provided written informed consented (51.2% adjusted response rate) (Figure 1)." . _:1f962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8451; , ; "GCST000679"; "A collection of families with multiple siblings affected by rheumatoid arthritis, gathered in the United States by the North American Rheumatoid Arthritis Consortium using well-defined clinical criteria and a severe-phenotype selection of probands, later extended with case-control collections (NARAC-II, NARAC-III), for linkage and association studies of rheumatoid arthritis genetics."; "NARAC", "NARAC dataset"; ; rdfs:label "North American Rheumatoid Arthritis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8451 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1f972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8451; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11254450+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The North American Rheumatoid Arthritis Consortium, using well-defined clinical criteria, has collected 257 families containing 301 affected sibling pairs with RA." . _:1f982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11254450+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report the first major genomewide screen of multiplex families with RA gathered in the United States." . _:1f992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000679"; "Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci."; "PMID:20453842", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4243840/unicode"; rdfs:comment "This study expands upon our previous GWAS meta-analysis of 3,393 cases and 12,462 controls by (a) adding a new GWAS dataset of 483 RA cases recruited from the Boston area (Brigham Rheumatoid Arthritis Sequential Study, BRASS) and 1,449 shared controls, (b) adding 513 cases and 431 controls recruited from Sweden (Epidemiological Investigation of Rheumatoid Arthritis, EIRA), (c) incorporating a recently published GWAS of 2,418 cases and 4,504 controls recruited from North America (Canada and North American Rheumatoid Arthritis Consortium-III, NARAC-III), and (d) adding additional shared controls to the NARAC-III dataset." . _:1f9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of families with multiple siblings affected by rheumatoid arthritis, gathered in the United States by the North American Rheumatoid Arthritis Consortium using well-defined clinical criteria and a severe-phenotype selection of probands, later extended with case-control collections (NARAC-II, NARAC-III), for linkage and association studies of rheumatoid arthritis genetics."; "PMID:11254450"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1f9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NARAC"; . a owl:NamedIndividual, ; , ; , , ; ; "GCST90559273"; "The central national biobank of South Korea, opened by the Korea National Institute of Health as the hub of the Korea Biobank Network with regional hospital biobanks, which holds and distributes biospecimens and data from general-population cohort studies such as the Korean Genome and Epidemiology Study and from hospital patients for biomedical and public health research."; 525416; "NBK"; , ; rdfs:label "National Biobank of Korea"@en . _:1f9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "In addition, within the Korean Genome and Epidemiology Study (KoGES) database, housed in the NBK, the control group comprised 3,693 urban residents from KoGES_health examinee (KoGES_HEXA) and 1,816 rural residents from KoGES_cardiovascular disease association study (KoGES_CAVAS)." . _:1f9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8898610/fullTextXML"; rdfs:comment "For access and sharing, biological resources of the BICWALZS were stored in the BICWALZS consortium biobank (www.bicwalzs.com/) as well as the National Biobank of Korea (www.nih.go.kr/biobank) which is a central biobank supporting for the Korea Biobank Project." . _:1f9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24159511+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Korea Biobank Project, which was initiated in 2008, constructed the Korea Biobank Network consisting of the National Biobank of Korea (NBK) with 17 regional biobanks in Korea." . _:1f9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559273"; "rs762855 single nucleotide polymorphism modulates the risk for diffuse-type gastric cancer in females: a genome-wide association study in the Korean population."; "PMID:39862296", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "Furthermore, from the National Biobank of Korea (NBK) (https://biobank.nih.go.kr/cmm/main/engMainPage.do), we obtained genetic data from 803 patients with GC, including 394 with DGC and 409 with IGC, whose genotypes were sequenced using the Affy 6.0 platform." . _:1fa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The central national biobank of South Korea, opened by the Korea National Institute of Health as the hub of the Korea Biobank Network with regional hospital biobanks, which holds and distributes biospecimens and data from general-population cohort studies such as the Korean Genome and Epidemiology Study and from hospital patients for biomedical and public health research."; "PMID:24159511", "PMID:24159540"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 525416; "biospecimens with related information secured by the Korea Biobank Project by Dec 2011 (counted as specimens, not explicitly persons)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3738708/fullTextXML"; rdfs:comment "As of December 2011, a total of 525,416 biospecimens with related information have been secured: 325,952 biospecimens from the general population obtained through cohort studies and 199,464 biospecimens of patients from regional biobanks." . _:1fa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBK"; . a owl:NamedIndividual, ; , , , ; , ; , ; "GCST90837544"; "A population-based prospective cohort of more than 140,000 participants in Norrbotten and Västerbotten, the two northernmost regions of Sweden, initiated in the mid-1980s and managed by Umeå University, combining three sub-cohorts (the Västerbotten Intervention Programme, the expanded Northern Sweden MONICA study and the Mammography Screening Project) with over 240,000 stored blood samples, for research on the aetiology, prevention and early detection of cancer, cardiovascular and other diseases."; 141910; "NSHDS", "Northern Sweden Health and Disease", "Northern Sweden Health and Disease Study cohort", "Northern Swedish Health and Disease Study Cohort"; , ; rdfs:label "Northern Sweden Health and Disease Study"@en . _:1fa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11790227/fullTextXML"; rdfs:comment "The NSHDS is a population-based prospective longitudinal cohort comprising >140 000 participants in the two northernmost regions in Sweden, Norrbotten and Västerbotten, with >240 000 blood samples and 1.5 million person-years of follow-up." . _:1fa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837544"; "Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction."; "PMID:41419686", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/supplementaryFiles"; rdfs:comment "The Northern Sweden Health and Disease Study (NSHDS) comprises three sub-surveys, the Västerbotten Intervention Program (VIP), the Northerns Sweden MONICA study and the Mammography Screening Program (MSP), whereof VIP and MONICA are actively recruiting." . _:1fa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of more than 140,000 participants in Norrbotten and Västerbotten, the two northernmost regions of Sweden, initiated in the mid-1980s and managed by Umeå University, combining three sub-cohorts (the Västerbotten Intervention Programme, the expanded Northern Sweden MONICA study and the Mammography Screening Project) with over 240,000 stored blood samples, for research on the aetiology, prevention and early detection of cancer, cardiovascular and other diseases."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11790227/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 141910; "individuals enrolled, as of May 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11790227/fullTextXML"; rdfs:comment "As of May 2020, 141 910 individuals were enrolled in the NSHDS, with a median age of 50 years and 53% women (Table 1)." . _:1fa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSHDS"; . _:1fa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Northern Sweden Health and Disease"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8470; , ; ; ; "GCST90129576"; "The Ontario site of the Breast Cancer Family Registry, which enrolled women with invasive breast cancer diagnosed in 1996–1998 identified through the Ontario Cancer Registry (all those aged 20–54 at high genetic risk and random samples of others, with high-risk cases diagnosed in 2001–2002 added), together with their relatives and population controls, to study the genetic epidemiology of breast cancer."; 4766; "BCFR-CA", "BCFR-ON", "BCFR-ONT", "OFBCR", "Ontario Breast Cancer Family Registry", "Ontario site of the Breast Cancer Family Registry"; ; rdfs:label "Ontario Familial Breast Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8470 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8470; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15217505+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Epidemiology questionnaire data are available for 6779 affected probands (with a personal history of breast cancer), 4116 unaffected probands, and 16,526 relatives with or without a personal history of breast or ovarian cancer." . _:1faa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Population-based families were recruited from the Greater San Francisco Bay area, California, USA, by the Northern California Cancer Center; from the province of Ontario, Canada, by Cancer Care Ontario; and from the metropolitan areas of Melbourne and Sydney, Australia, by the University of Melbourne and the New South Wales Cancer Council." . _:1fab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Population-based families were recruited from the Greater San Francisco Bay area, California, USA, by the Northern California Cancer Center; from the province of Ontario, Canada, by Cancer Care Ontario; and from the metropolitan areas of Melbourne and Sydney, Australia, by the University of Melbourne and the New South Wales Cancer Council." . _:1fac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The OFBCR thanks Teresa Selander, Nayana Weerasooriya and Steve Gallinger." . _:1fad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Ontario site of the Breast Cancer Family Registry, which enrolled women with invasive breast cancer diagnosed in 1996–1998 identified through the Ontario Cancer Registry (all those aged 20–54 at high genetic risk and random samples of others, with high-risk cases diagnosed in 2001–2002 added), together with their relatives and population controls, to study the genetic epidemiology of breast cancer."; "PMID:15217505", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4766; "probands (population-based case and control probands and clinic-based probands) enrolled at the Ontario site, 1996-2003; relatives not counted"; "https://europepmc.org/api/getPdf?pmcid=PMC468645"; rdfs:comment "Total probands 2927 4766 2160 1134 780 183 11,950" . _:1faf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-CA"; . _:1fb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-ON"; . _:1fb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-ONT"; . _:1fb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFBCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8481; , ; "GCST90572747"; "A randomised, double-blind trial in which 371 adults with a first unprovoked pulmonary embolism, after six months of vitamin K antagonist treatment, were randomised to a further 18 months of warfarin or placebo and followed between 2007 and 2014 at 14 French centres, comparing recurrent venous thromboembolism and major bleeding."; 371; "PADIS-PE", "PADIS-PE randomized clinical trial", "PADIS-PE trial", "Prolonged Anticoagulant During Eighteen Months vs Placebo After Initial Six-month Treatment for a First Episode of Idiopathic Pulmonary Embolism"; ; rdfs:label "Prolonged Anticoagulation During eighteen months vs placebo after Initial Six-month treatment for a first episode of idiopathic Pulmonary Embolism"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8481 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8481; "pulmonary embolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26151264+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "371 adult patients who had experienced a first episode of symptomatic unprovoked pulmonary embolism (ie, with no major risk factor for thrombosis) and had been treated initially for 6 uninterrupted months with a vitamin K antagonist were randomized and followed up between July 2007 and September 2014 in 14 French centers." . _:1fb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13240746/fullTextXML"; rdfs:comment "NCT00740883) conducted between 2007 and 2014 in 14 French care centers." . _:1fb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90572747"; "Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes."; "PMID:40811855", "https://www.medrxiv.org/content/early/2024/12/03/2024.12.02.24317788.source.xml"; rdfs:comment "The recurrent VT GWAS meta-analysis included eight studies with confirmed unrelated VT cases of European ancestry free of cancer history: EDITH, FHS, HVH (HVH1 and HVH23), MARTHA, MEGA, PADIS-PE and REVERSE-I (Supplementary Material)." . _:1fb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind trial in which 371 adults with a first unprovoked pulmonary embolism, after six months of vitamin K antagonist treatment, were randomised to a further 18 months of warfarin or placebo and followed between 2007 and 2014 at 14 French centres, comparing recurrent venous thromboembolism and major bleeding."; "PMID:26151264"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 371; "adults randomised to warfarin or placebo (2014)"; "PMID:26151264"; rdfs:comment "Randomized, double-blind trial (treatment period, 18 months; median follow-up, 24 months); 371 adult patients who had experienced a first episode of symptomatic unprovoked pulmonary embolism (ie, with no major risk factor for thrombosis) and had been treated initially for 6 uninterrupted months with a vitamin K antagonist were randomized and followed up between July 2007 and September 2014 in 14 French centers." . _:1fb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PADIS-PE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8488; , ; ; "GCST90129576"; "A population-based case-control study of breast cancer in Warsaw and Łódź, Poland, in 2000–2003, funded by the intramural programme of the US National Cancer Institute, in which cases were women aged 20–74 with newly diagnosed in situ or invasive breast cancer identified through a rapid identification system at participating hospitals and through cancer registries."; "The acronym PBCS also denotes Pisa Breast Cancer Study (COHO:0002256); this term is Polish Breast Cancer Study."@en; 2386; 2502; "NCI Polish Breast Cancer Study", "PBCS", "Polish Women's Breast Cancer Study"; ; rdfs:label "Polish Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8488 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8488; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2876119/fullTextXML"; rdfs:comment "Incident cases from 2000–2003 identified through a rapid identification system in participating hospitals covering ∼90% of all eligible cases; periodic check against the cancer registries in Warsaw and Łódź to assure complete identification of cases" . _:1fba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2876119/fullTextXML"; rdfs:comment "Incident cases from 2000–2003 identified through a rapid identification system in participating hospitals covering ∼90% of all eligible cases; periodic check against the cancer registries in Warsaw and Łódź to assure complete identification of cases" . _:1fbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "PBCS thanks Louise Brinton, Mark Sherman, Neonila Szeszenia-Dabrowska, Beata Peplonska, Witold Zatonski, Pei Chao, Michael Stagner." . _:1fbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer in Warsaw and Łódź, Poland, in 2000–2003, funded by the intramural programme of the US National Cancer Institute, in which cases were women aged 20–74 with newly diagnosed in situ or invasive breast cancer identified through a rapid identification system at participating hospitals and through cancer registries."; "PMID:20520800", "PMID:25855707", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2386; "cases and controls who agreed to the interview, 2000-2003; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2360503/fullTextXML"; rdfs:comment "A total of 2386 cases (79% of eligibles) and 2502 controls (69% of eligibles) agreed to participate in a personal interview regarding known and suspected risk factors for breast cancer." . _:1fbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2502; "cases and controls who agreed to the interview, 2000-2003; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2360503/fullTextXML"; rdfs:comment "A total of 2386 cases (79% of eligibles) and 2502 controls (69% of eligibles) agreed to participate in a personal interview regarding known and suspected risk factors for breast cancer." . _:1fbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8496; , ; ; "GCST90129576"; "A cohort of women aged 47–73 recruited from 2009 at routine NHS Breast Screening Programme appointments in Manchester, UK, who completed risk-factor questionnaires and had breast density measured, a subset also giving DNA, to study breast cancer risk prediction at screening."; 57902; "Breast Screening Programme (NHSBSP) in Greater Manchester", "PROCAS", "PROCAS Study"; ; rdfs:label "Predicting Risk Of Cancer At Screening"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8496 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8496; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7217761/fullTextXML"; rdfs:comment "We recruited women (aged 47–73 years) into the PROCAS (Predicting Risk Of Cancer At Screening; Manchester, UK: 2009–2013) Study." . _:1fc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32203222+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited women (aged 47-73 years) into the PROCAS (Predicting Risk Of Cancer At Screening; Manchester, UK: 2009-2013) Study." . _:1fc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "PROCAS is funded from NIHR grant PGfAR 0707-10031." . _:1fc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women aged 47–73 recruited from 2009 at routine NHS Breast Screening Programme appointments in Manchester, UK, who completed risk-factor questionnaires and had breast density measured, a subset also giving DNA, to study breast cancer risk prediction at screening."; "PMID:32203222", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 57902; "women who agreed to enter PROCAS, October 2009 to June 2015"; "PMID:32203222"; rdfs:comment "A total of 57,902 women agreed to enter PROCAS." . _:1fc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROCAS"; . a owl:NamedIndividual, ; , , ; ; "GCST90258643"; "A registry of twins and multiples of all ages in Qingdao, China, initiated in 1998 as part of the Chinese National Twin Registry, with more than 11,000 twin pairs recruited and adolescent, adult and elderly twin cohorts sampled for studies of chronic disease, metabolic disorders, health behaviours and ageing."; "The acronym QTR also denotes Queensland Twin Registry (COHO:0001226); this term is Qingdao Twin Registry."@en; 10655; "QTR", "QTR_Qingdao", "Qingdao Twins Registry"; ; rdfs:label "Qingdao Twin Registry"@en . _:1fc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23182450+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 1998, the Qingdao Twin Registry was initiated as the main part of the Chinese National Twin Registry." . _:1fc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23182450+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 1998, the Qingdao Twin Registry was initiated as the main part of the Chinese National Twin Registry." . _:1fc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90258643"; "Genome-wide association study of handgrip strength in the Northern Chinese adult twins."; "PMID:35876483", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35876483+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 135 dizygotic twin pairs recruited from the Qingdao Twin Registry system were included in the present study." . _:1fc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of twins and multiples of all ages in Qingdao, China, initiated in 1998 as part of the Chinese National Twin Registry, with more than 11,000 twin pairs recruited and adolescent, adult and elderly twin cohorts sampled for studies of chronic disease, metabolic disorders, health behaviours and ageing."; "PMID:17254404"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10655; "twin PAIRS recruited by 2005 (not individuals)"; "PMID:23182450"; rdfs:comment "By 2005, a total of 10,655 twin pairs had been recruited." . _:1fcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QTR"; . _:1fcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QTR_Qingdao"; . a owl:NamedIndividual, ; ; , , ; "GCST90270288"; "A population-based twin registry in China, established in 2001, which includes data on over 61,000 twin pairs from 11 provinces or cities and collects biological specimens from disease-concordant and disease-discordant twin pairs, to analyse genetic and environmental influences on chronic diseases, especially cardiovascular diseases."; 61566; "CNTR"; ; rdfs:label "Chinese National Twin Registry"@en . _:1fcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31270876+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Chinese National Twin Registry (CNTR) currently includes data from 61 566 twin pair from 11 provinces or cities in China." . _:1fce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270288"; "Exploring the Genetic Association between Obesity and Serum Lipid Levels Using Bivariate Methods."; "PMID:36606461", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36606461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "using 1197 pairs of twins from the Chinese National Twin Registry (CNTR)." . _:1fcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based twin registry in China, established in 2001, which includes data on over 61,000 twin pairs from 11 provinces or cities and collects biological specimens from disease-concordant and disease-discordant twin pairs, to analyse genetic and environmental influences on chronic diseases, especially cardiovascular diseases."; "PMID:31270876"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 61566; "twin PAIRS registered from 11 provinces or cities (not individuals), 2019"; "PMID:31270876"; rdfs:comment "The Chinese National Twin Registry (CNTR) currently includes data from 61 566 twin pair from 11 provinces or cities in China." . _:1fd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNTR"; . a owl:NamedIndividual, ; "GCST90026597"; "An international network of investigators that meta-analyses genome-wide association study data from many cohorts to identify genetic variants and genes affecting reproductive ageing and reproductive timing, such as age at menarche and age at natural menopause."; 182416; "ReproGen", "ReproGen consortium"; ; rdfs:label "Reproductive Genetics Consortium"@en . _:1fd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026597"; "Joint Genome-Wide Association Analyses Identified 49 Novel Loci For Age at Natural Menopause."; "PMID:34050765", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34050765+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "the Reproductive Genetics Consortium (ReproGen;" . _:1fd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international network of investigators that meta-analyses genome-wide association study data from many cohorts to identify genetic variants and genes affecting reproductive ageing and reproductive timing, such as age at menarche and age at natural menopause."; "https://www.reprogen.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 182416; "women of European descent from 57 studies in the 2014 age-at-menarche meta-analysis (stated as up to)"; "PMID:25231870"; rdfs:comment "Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche." . _:1fd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ReproGen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8519, _:genid-371333f489424440b12a13b9d98ced822608-genid8521; , ; , ; "GCST90129576"; "A population-based case-control study of postmenopausal breast cancer in women aged 50–74 born in Sweden, with incident cases identified through the Swedish regional cancer registries and controls randomly selected from the Swedish population register, enrolled in 1993–1995, with ethical approval at Karolinska Institutet and funding from Singapore (A*STAR) and the US."; 3345; 3454; "CAHRES", "CAncer Hormone Replacement Epidemiology in Sweden", "Cancer Hormone Replacement Epidemiology Study", "Cancer Hormone Replacement Epidemiology in Sweden", "Cancer Hormone Replacement Epidemiology in Sweden Study", "Cancer hormone replacement epidemiology in Sweden", "SASBAC", "Singapore and Sweden Breast/Endometrial Cancer Study", "Singapore and Swedish Breast Cancer Study", "Singapore and Swedish Breast/Endometrial Cancer Study", "Sweden and Singapore Breast Cancer Study"; ; rdfs:label "Singapore and Sweden Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8519 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8521 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8519; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3496122/fullTextXML"; rdfs:comment "The Singapore and Sweden Breast Cancer Study (SASBAC) is a population-based case-control study of postmenopausal breast cancer in women aged 50 to 74 years born in Sweden." . _:1fd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8521; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3496122/fullTextXML"; rdfs:comment "The Singapore and Sweden Breast Cancer Study (SASBAC) is a population-based case-control study of postmenopausal breast cancer in women aged 50 to 74 years born in Sweden." . _:1fd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3496122/fullTextXML"; rdfs:comment "The Singapore and Sweden Breast Cancer Study (SASBAC) is a population-based case-control study of postmenopausal breast cancer in women aged 50 to 74 years born in Sweden." . _:1fd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The SASBAC study was supported by funding from the Agency for Science, Technology and Research of Singapore (A*STAR)" . _:1fda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of postmenopausal breast cancer in women aged 50–74 born in Sweden, with incident cases identified through the Swedish regional cancer registries and controls randomly selected from the Swedish population register, enrolled in 1993–1995, with ethical approval at Karolinska Institutet and funding from Singapore (A*STAR) and the US."; "PMID:22226020", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3345; "cases and controls who participated in the parent case-control study, 1993-1995; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468663/fullTextXML"; rdfs:comment "Eighty-four percent of eligible cases ( n = 3345) and 82% of the controls ( n = 3454) ultimately participated in the parent study." . _:1fdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3454; "cases and controls who participated in the parent case-control study, 1993-1995; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468663/fullTextXML"; rdfs:comment "Eighty-four percent of eligible cases ( n = 3345) and 82% of the controls ( n = 3454) ultimately participated in the parent study." . _:1fdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAHRES"; . _:1fde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SASBAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8530; , ; ; "GCST90239710", "PGS000721"; "A hospital-based case–control study of lung cancer in Toronto, Canada, run by the University of Toronto and the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, whose genome-wide genotyped cases and controls contribute to international lung cancer consortia."; 331; 499; "LCSC", "Lung Cancer Study from Canada", "SLRI", "SLRI/Toronto", "Samuel Lunenfeld Research Institute lung cancer study", "Toronto lung cancer study"; , ; rdfs:label "Samuel Lunenfeld Research Institute Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8530 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8530; "lung cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC3607485"; rdfs:comment "SLRIc /Toronto 331 499 Toronto, Canada Hospital-based case–control" . _:1fe02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607485/fullTextXML"; rdfs:comment "Toronto, Canada" . _:1fe12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239710"; "Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk."; "PMID:35138370", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9402242/fullTextXML"; rdfs:comment "Affymetrix Axiom Array Study, the Genetic Epidemiology of Lung Cancer Consortium, the Environment and Genetics in Lung cancer Etiology study, the International Agency for Research on Cancer, MD Anderson Cancer Center Study, NCI Lung Cancer and Smoking Phenotypes in African-American Cases and Controls (NCI), the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial and Samuel Lunenfeld Research Institute Study were combined together and used as replication dataset including 7378 lung cancer cases and 9503 controls (Table 1, Supplementary Material, Table S1) (44–47)." . _:1fe22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000721"; "Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers."; "PMID:32596635" . _:1fe32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung cancer in Toronto, Canada, run by the University of Toronto and the Samuel Lunenfeld Research Institute of Mount Sinai Hospital, whose genome-wide genotyped cases and controls contribute to international lung cancer consortia."; "PMID:22899653"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fe42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 331; "lung cancer cases and controls genome-wide genotyped, contributed to the 2012 TRICL meta-analysis (analysed subset); no total stated"; "https://europepmc.org/api/getPdf?pmcid=PMC3607485"; rdfs:comment "SLRIc /Toronto 331 499 Toronto, Canada Hospital-based case–control 317 K 314285" . _:1fe52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 499; "lung cancer cases and controls genome-wide genotyped, contributed to the 2012 TRICL meta-analysis (analysed subset); no total stated"; "https://europepmc.org/api/getPdf?pmcid=PMC3607485"; rdfs:comment "SLRIc /Toronto 331 499 Toronto, Canada Hospital-based case–control 317 K 314285" . _:1fe62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCSC"; . _:1fe72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLRI"; . _:1fe82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLRI/Toronto"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8541; , , ; "GCST90559273"; "A hospital-based case–control cohort of patients with gastric cancer and non-cancer controls aged 26–80 recruited at the Digestive Disease Center of Seoul National University Bundang Hospital, South Korea, with genome-wide genotypes, Helicobacter pylori status and lifestyle data, used to study genetic risk of gastric cancer by histological type and sex."; 610; 606; 1216; "SNUBH", "SNUBH cohort", "Seoul National University Bundang Hospital gastric cancer cohort"; ; rdfs:label "Seoul National University Bundang Hospital cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8541 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1fe92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8541; "gastric cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "The Seoul National University Bundang Hospital (SNUBH) cohort comprises 1,216 participants, consisting of 610 patients with GC and 606 non-cancer controls, with ages ranging from 26 to 80 years, who were recruited from the enrolled participants who visited the Digestive Disease Center, SNUBH." . _:1fea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "rs762855 single nucleotide polymorphism modulates the risk for diffuse-type gastric cancer in females: a genome-wide association study in the Korean population" . _:1feb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559273"; "rs762855 single nucleotide polymorphism modulates the risk for diffuse-type gastric cancer in females: a genome-wide association study in the Korean population."; "PMID:39862296", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "The Seoul National University Bundang Hospital (SNUBH) cohort comprises 1,216 participants, consisting of 610 patients with GC and 606 non-cancer controls, with ages ranging from 26 to 80 years, who were recruited from the enrolled participants who visited the Digestive Disease Center, SNUBH." . _:1fec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control cohort of patients with gastric cancer and non-cancer controls aged 26–80 recruited at the Digestive Disease Center of Seoul National University Bundang Hospital, South Korea, with genome-wide genotypes, Helicobacter pylori status and lifestyle data, used to study genetic risk of gastric cancer by histological type and sex."; "PMID:39862296"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 610; "participants genotyped in the SNUBH GWAS cohort (gastric cancer patients and non-cancer controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "The Seoul National University Bundang Hospital (SNUBH) cohort comprises 1,216 participants, consisting of 610 patients with GC and 606 non-cancer controls, with ages ranging from 26 to 80 years, who were recruited from the enrolled participants who visited the Digestive Disease Center, SNUBH." . _:1fee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 606; "participants genotyped in the SNUBH GWAS cohort (gastric cancer patients and non-cancer controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "The Seoul National University Bundang Hospital (SNUBH) cohort comprises 1,216 participants, consisting of 610 patients with GC and 606 non-cancer controls, with ages ranging from 26 to 80 years, who were recruited from the enrolled participants who visited the Digestive Disease Center, SNUBH." . _:1fef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1216; "participants genotyped in the SNUBH GWAS cohort (gastric cancer patients and non-cancer controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11842433/fullTextXML"; rdfs:comment "The Seoul National University Bundang Hospital (SNUBH) cohort comprises 1,216 participants, consisting of 610 patients with GC and 606 non-cancer controls, with ages ranging from 26 to 80 years, who were recruited from the enrolled participants who visited the Digestive Disease Center, SNUBH." . _:1ff02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNUBH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8550; , , ; ; "PMID:37813642"; "A community-based cohort of adults aged 20 years or over living in Miyagi or Iwate Prefecture, Japan, of whom 87,865 consented to join through health check-ups and assessment centres of the Tohoku Medical Megabank Project, to assess the long-term impact of the Great East Japan Earthquake and gene–environment interactions in major diseases such as cancer and cardiovascular disease, with genome and metabolome information."; "The acronym TMM also denotes Tohoku Medical Megabank Project (COHO:0000533) and Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (COHO:0000939); this term is Tohoku Medical Megabank Community-Based Cohort Study."@en; 87865; "CommCohort", "TMM", "TMM CommCohort", "TMM CommCohort Study", "ToMMo CommCohort Study", "Tohoku Medical Megabank Community-Based Cohort (TMM) Study", "Tohoku Medical Megabank Community-based Cohort Study"; rdfs:label "Tohoku Medical Megabank Community-Based Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8550 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ff12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8550; "Great East Japan Earthquake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31932529+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established a community-based cohort study to assess the long-term impact of the Great East Japan Earthquake on disaster victims and gene-environment interactions on the incidence of major diseases, such as cancer and cardiovascular diseases." . _:1ff22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10816704/fullTextXML"; rdfs:comment "A total of 175,672 individuals were included in this GWAS meta-analysis of six Japanese cohorts, namely, the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC) Study (n = 4958) (25), the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study (n = 13,236) (26, 27), the Japan Public Health Center-based Prospective (JPHC) Study (n = 10,037) (28), the Tohoku Medical Megabank Community-Based Cohort (TMM) Study (n = 7857) (29), the Nagahama Prospective Cohort for Comprehensive Human Bioscience (Nagahama) Study (n = 4591) (30), and the BioBank Japan (BBJ) Study (n = 134,993) (31, 32) after imputation and quality control (QC) of individual subject genotype data (Supplementary Materials and tables S1 and S2)." . _:1ff32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37813642"; "Influence of Diabetes Family History on the Associations of Combined Genetic and Lifestyle Risks with Diabetes in the Tohoku Medical Megabank Community-Based Cohort Study."; "PMID:37813642", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37813642+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined these associations.MethodsThis cross-sectional study included 9,681 participants in the Tohoku Medical Megabank Community-based Cohort Study." . _:1ff42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of adults aged 20 years or over living in Miyagi or Iwate Prefecture, Japan, of whom 87,865 consented to join through health check-ups and assessment centres of the Tohoku Medical Megabank Project, to assess the long-term impact of the Great East Japan Earthquake and gene–environment interactions in major diseases such as cancer and cardiovascular disease, with genome and metabolome information."; "PMID:31932529"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1ff52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 87865; "adults who gave informed consent to join, 2013-2015 baseline"; "PMID:31932529"; rdfs:comment "All participants agreed to measure genome information and to distribute their information widely.ResultsAs a result, 87,865 gave their informed consent to join our study." . _:1ff62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CommCohort"; . _:1ff72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM"; . _:1ff82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM CommCohort"; . _:1ff92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM CommCohort Study"; . _:1ffa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ToMMo CommCohort Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8561; , , ; ; "GCST90624209"; "A birth and three-generation cohort in Japan conducted since July 2013 by the Tohoku Medical Megabank Organization of Tohoku University and the Iwate Tohoku Medical Megabank Organization, recruiting pregnant women and their fetuses as probands together with the fathers, grandparents, siblings and extended family members, with genome and omics information, to study disease risk across generations."; "The acronym TMM also denotes Tohoku Medical Megabank Project (COHO:0000533) and Tohoku Medical Megabank Community-Based Cohort Study (COHO:0000938); this term is Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study."@en; 74116; "BirThree Cohort", "BirThree Cohort Study", "TMM", "TMM BirThree", "TMM BirThree Cohort Study", "TMM Birth and Three-Generation Cohort Study", "Tohoku Medical Megabank Project Birth and Three Generations Cohort Study"; ; rdfs:label "Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8561 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:1ffb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8561; "Great East Japan Earthquake (GEJE) and subsequent tsunami"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7124511/fullTextXML"; rdfs:comment "In this study, we collected in utero and subsequent exposure and outcome information, including disaster-related information, of newborns and other family members." . _:1ffc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10953086/fullTextXML"; rdfs:comment "We performed genome-wide association studies (GWAS) of NVP in pregnant women (n = 23,040) who participated in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study in Japan from July 2013 to March 2017." . _:1ffd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624209"; "Genome-wide association study of nausea and vomiting during pregnancy in Japan: the TMM BirThree Cohort Study."; "PMID:38509478", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10953086/fullTextXML"; rdfs:comment "Participants included in this study were pregnant women enrolled in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study) in Japan reported previously [9, 10]." . _:1ffe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth and three-generation cohort in Japan conducted since July 2013 by the Tohoku Medical Megabank Organization of Tohoku University and the Iwate Tohoku Medical Megabank Organization, recruiting pregnant women and their fetuses as probands together with the fathers, grandparents, siblings and extended family members, with genome and omics information, to study disease risk across generations."; "PMID:31504573"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:1fff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 74116; "persons in the 'fetus' origin cohort (pregnant women, fetuses and family members), recruited 2013-2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7124511/fullTextXML"; rdfs:comment "In the TMM BirThree Cohort Study, 74 116 persons participated as the ‘fetus’ origin cohort, and 73 529 persons participated as the ‘newborn’ origin cohort (Figure 3)." . _:20002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BirThree Cohort Study"; . _:20012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM"; . _:20022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM BirThree"; . _:20032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMM BirThree Cohort Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8571; , ; ; "GCST90797639"; "A Dutch clinical cohort of 543 children who had been referred to a child psychiatric outpatient clinic in the Northern Netherlands before the age of 11, enrolled from 2004 alongside the TRAILS population cohort and followed from about age 11 with repeated assessments of mental health and development into young adulthood."; 543; "TRAILS clinical cohort", "TRAILSCC", "Tracking Adolescents Individual Lives Survey (TRAILS) Clinical Cohort"; ; rdfs:label "TRacking Adolescents' Individual Lives Survey Clinical Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8571 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8571; "child psychiatric disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339762/fullTextXML"; rdfs:comment "The clinical cohort consists of individuals who have been referred to a child psychiatric outpatient clinic in the Northern Netherlands any time before the age of 11." . _:20052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339762/fullTextXML"; rdfs:comment "The clinical cohort consists of individuals who have been referred to a child psychiatric outpatient clinic in the Northern Netherlands any time before the age of 11." . _:20062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339762/fullTextXML"; rdfs:comment "TRAILS consists of a population cohort (N = 2230) and a clinical cohort (N = 543), both of which were followed from about age 11 years onwards." . _:20072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90797639"; "Genetic determinants of childhood blood pressure and heart rate in relation to adult health outcomes: the consortium of childhood blood pressure."; "PMID:42036355", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13533560/supplementaryFiles"; rdfs:comment "TRAILS-cc Tracking Adolescents' Individual Lives Survey - clinical cohort Prospective clinic cohort" . _:20082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch clinical cohort of 543 children who had been referred to a child psychiatric outpatient clinic in the Northern Netherlands before the age of 11, enrolled from 2004 alongside the TRAILS population cohort and followed from about age 11 with repeated assessments of mental health and development into young adulthood."; "PMID:25431468"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 543; "clinic-referred children included at baseline from 2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339762/fullTextXML"; rdfs:comment "Data collection in this cohort started a few years after the population cohort, in 2004, with the inclusion of 543 children (response rate 43%)." . _:200a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRAILSCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8579, _:genid-371333f489424440b12a13b9d98ced822608-genid8581; , , ; ; "GCST90239651"; "A collection of Chinese people with type 2 diabetes in Taiwan, with and without proliferative diabetic retinopathy, assembled from 1996 to 2011 by Taiwanese and US investigators for genetic studies of diabetic retinopathy."; 1486; "TUDR", "Taiwan USA Diabetes Retinopathy", "Taiwan–US Diabetic Retinopathy Study"; ; rdfs:label "Taiwan-US Diabetic Retinopathy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8579 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8581 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:200b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8579; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5697951/fullTextXML"; rdfs:comment "Control subjects in the GWAS analyses were defined as subjects with type 2 diabetes without DR; case subjects were subjects with type 2 diabetes with either of the defined DR phenotypes." . _:200c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8581; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5697951/fullTextXML"; rdfs:comment "Control subjects in the GWAS analyses were defined as subjects with type 2 diabetes without DR; case subjects were subjects with type 2 diabetes with either of the defined DR phenotypes." . _:200d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239651"; "The power of genetic diversity in genome-wide association studies of lipids."; "PMID:34887591", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "Taiwan US Diabetic Retinopathy Study" . _:200e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of Chinese people with type 2 diabetes in Taiwan, with and without proliferative diabetic retinopathy, assembled from 1996 to 2011 by Taiwanese and US investigators for genetic studies of diabetic retinopathy."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5697951/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:200f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1486; "unrelated type 2 diabetic Taiwanese subjects in the TUDR study (1007 discovery plus 479 NPDR extension), 2013"; "https://europepmc.org/api/getPdf?pmcid=PMC3699066"; rdfs:comment "A total of 1486 unrelated type 2 diabetic Taiwanese subjects were included in this study." . _:20102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TUDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8587; , ; , , ; "GCST90129576"; "A UK general-population cohort started in 2003 that recruited 112,049 participants aged 16–102 by 2011 through a generational referral method, in which women recruited directly nominated female friends and relatives, collecting detailed questionnaires and blood samples repeatedly over decades to investigate breast cancer aetiology."; 112049; "BGS", "Generations Study", "UK Breakthrough Generations Study", "UKBGS"; , ; rdfs:label "Breakthrough Generations Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid8587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8587; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3185950/fullTextXML"; rdfs:comment "The Breakthrough Generations Study is a long-term prospective cohort study focussed on potential aetiological factors for breast cancer in women." . _:20122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21897394+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The rationale, design, recruitment and follow-up methods are described for the Breakthrough Generations Study, a UK cohort study started in 2003, targeted at investigation of breast cancer aetiology." . _:20132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "UKBGS thanks Breast Cancer Now and the Institute of Cancer Research for support and funding of the Generations Study, and the study participants, study staff, and the doctors, nurses and other health care providers and health information sources who have contributed to the study." . _:20142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK general-population cohort started in 2003 that recruited 112,049 participants aged 16–102 by 2011 through a generational referral method, in which women recruited directly nominated female friends and relatives, collecting detailed questionnaires and blood samples repeatedly over decades to investigate breast cancer aetiology."; "PMID:21897394"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 112049; "women who returned the questionnaire and became study members, 2003-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3185950/fullTextXML"; rdfs:comment "Of these women, 112 049 (47%) have returned the questionnaire and become study members." . _:20162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BGS"; . _:20172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8595; , ; "GCST90428881"; "A multicentre prospective cohort of people with type 2 diabetes, with diabetes-free controls included at baseline, in the city of Eindhoven, the Netherlands, extensively phenotyped to study the aetiology of type 2 diabetes and its micro- and macrovascular complications."; 1886; 854; "DiaGene"; ; rdfs:label "DiaGene Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8595 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8595; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28649285+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The DiaGene study is a multi-centre, prospective, extensively phenotyped type 2 diabetes cohort study with concurrent inclusion of diabetes-free individuals at baseline as controls in the city of Eindhoven, The Netherlands." . _:20192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28649285+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The DiaGene study is a multi-centre, prospective, extensively phenotyped type 2 diabetes cohort study with concurrent inclusion of diabetes-free individuals at baseline as controls in the city of Eindhoven, The Netherlands." . _:201a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428881"; "Apolipoprotein-CIII O-Glycosylation, a Link between GALNT2 and Plasma Lipids."; "PMID:37834292", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10573541/fullTextXML"; rdfs:comment "We conducted GWAS on the four apo-CIII proteoforms in the DiaGene study in people with and without type 2 diabetes (n = 2318)." . _:201b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort of people with type 2 diabetes, with diabetes-free controls included at baseline, in the city of Eindhoven, the Netherlands, extensively phenotyped to study the aetiology of type 2 diabetes and its micro- and macrovascular complications."; "PMID:28649285"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:201c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1886; "patients with type 2 diabetes and diabetes-free controls included, 2006-2011; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5477157/fullTextXML"; rdfs:comment "A total of 1886 patients with T2DM and 854 diabetes-free controls were included." . _:201d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 854; "patients with type 2 diabetes and diabetes-free controls included, 2006-2011; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5477157/fullTextXML"; rdfs:comment "A total of 1886 patients with T2DM and 854 diabetes-free controls were included." . _:201e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DiaGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8603; , ; , ; "GCST90310280"; "A Danish clinical research programme, the Copenhagen Prospective Studies on Asthma in Childhood, made up of mother-child birth cohorts: COPSAC2000, a high-risk cohort of 411 children of mothers with a doctor's diagnosis of asthma, enrolled in the first month of life, and COPSAC2010, a cohort of 700 children born to unselected mothers from Denmark."; "The acronym COPSAC also denotes Copenhagen Prospective Study on Asthma in Childhood (COHO:0000639); this term is Copenhagen Prospective Studies on Asthma in Childhood."@en; "COPSAC", "Copenhagen Prospective Studies on Asthma"; ; rdfs:label "Copenhagen Prospective Studies on Asthma in Childhood"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8603 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:201f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8603; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10319806/supplementaryFiles"; rdfs:comment "COPSAC2000 is a mother child cohort where all the mothers had a history of a doctor’s diagnosis of asthma after 7 years of age and thus this is a high risk asthma cohort comprising 411 children." . _:20202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10319806/supplementaryFiles"; rdfs:comment "The Copenhagen Prospective Studies on Asthma in Childhood is a clinical study. COPSAC2000 is a mother child cohort where all the mothers had a history of a doctor’s diagnosis of asthma after 7 years of age and thus this is a high risk asthma cohort comprising 411 children." . _:20212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10319806/supplementaryFiles"; rdfs:comment "The Copenhagen Prospective Studies on Asthma in Childhood is a clinical study. COPSAC2000 is a mother child cohort where all the mothers had a history of a doctor’s diagnosis of asthma after 7 years of age and thus this is a high risk asthma cohort comprising 411 children. Newborns were enrolled in the first month of life, as previously described in detail8 . COPSAC2010 is a mother child cohort comprising 700 children born to unselected mothers from Denmark as described previously in detail9,10 ." . _:20222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10319806/supplementaryFiles"; rdfs:comment "COPSAC2010 is a mother child cohort comprising 700 children born to unselected mothers from Denmark as described previously in detail9,10 ." . _:20232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90310280"; "Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis."; "PMID:37402774", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10319806/supplementaryFiles"; rdfs:comment "Copenhagen Prospective Studies on Asthma (COPSAC) cohort: The Copenhagen Prospective Studies on Asthma in Childhood is a clinical study." . _:20242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish clinical research programme, the Copenhagen Prospective Studies on Asthma in Childhood, made up of mother-child birth cohorts: COPSAC2000, a high-risk cohort of 411 children of mothers with a doctor's diagnosis of asthma, enrolled in the first month of life, and COPSAC2010, a cohort of 700 children born to unselected mothers from Denmark."; "PMID:37402774"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPSAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8611; , , , ; , ; "GCST90255678"; "A multiethnic genome-wide association study sample of prostate cancer from Kaiser Permanente health plan members in California, combining prostate cancer cases from three Kaiser Permanente studies (the Research Program on Genes, Environment and Health, the ProHealth Study and the California Men's Health Study) with men of the Genetic Epidemiology Research on Aging cohort without a prostate cancer diagnosis as controls (7,783 cases and 38,595 controls; 80.3% non-Hispanic white, 4.9% African American, 7.0% East Asian and 7.8% Latino)."; "The acronym ProHealth also denotes ProHealth Study (COHO:0000879); this term is ProHealth Kaiser GWAS."@en; 7783; 38595; "Kaiser", "ProHealth"; ; rdfs:label "ProHealth Kaiser GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8611 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8611; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26034056+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic white, 4.9% African-American, 7.0% East Asian, and 7.8% Latino)" . _:20272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Controls were all men in GERA without PCa diagnosis; who could have had other cancers." . _:20282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Our primary analyses used cases and controls from three KP studies: RPGEH, ProHealth, and CMHS." . _:20292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Our primary analyses used cases and controls from three KP studies: RPGEH, ProHealth, and CMHS." . _:202a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Our primary analyses used cases and controls from three KP studies: RPGEH, ProHealth, and CMHS." . _:202b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "PCa cases in these cohorts were identified from the KP Northern California Cancer Registry (KPNCCR), the KP Southern California Cancer Registry (KPSCCR) or through review of clinical electronic health records through the end of 2012." . _:202c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255678"; "Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry."; "PMID:36872133", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10424812/unicode"; rdfs:comment "The GWAS meta-analysis included 19 378 PCa cases and 61 620 controls of African ancestry from the AAPC Consortium, ELLIPSE/PRACTICAL Onco-Array Consortium (ELLIPSE), Ghana Prostate Study (Ghana), ProHealth Kaiser GWAS (Kaiser), Electronic Medical Records and Genomics (eMERGE) Network, BioVU Biobank, BioMe Biobank, California and Uganda Prostate Cancer Study (CA UG), VA Million Veteran Program (MVP), and Maryland Prostate Cancer Case-Control Study (NCI-MD)." . _:202d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiethnic genome-wide association study sample of prostate cancer from Kaiser Permanente health plan members in California, combining prostate cancer cases from three Kaiser Permanente studies (the Research Program on Genes, Environment and Health, the ProHealth Study and the California Men's Health Study) with men of the Genetic Epidemiology Research on Aging cohort without a prostate cancer diagnosis as controls (7,783 cases and 38,595 controls; 80.3% non-Hispanic white, 4.9% African American, 7.0% East Asian and 7.8% Latino)."; "PMID:26034056"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:202e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7783; "prostate cancer cases (RPGEH, ProHealth, CMHS) and GERA controls in the 2015 GWAS, after exclusions; no total stated"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Our analyses included 7,783 cases and 38,595 controls after exclusions described here." . _:202f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 38595; "prostate cancer cases (RPGEH, ProHealth, CMHS) and GERA controls in the 2015 GWAS, after exclusions; no total stated"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "Our analyses included 7,783 cases and 38,595 controls after exclusions described here." . _:20302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kaiser"; . _:20312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProHealth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8624, _:genid-371333f489424440b12a13b9d98ced822608-genid8626; , ; ; "GCST90002228"; "A family study of Mexican Americans in the Los Angeles area, United States, designed to identify genetic determinants of pancreatic β-cell function, which recruited non-diabetic women with a history of gestational diabetes mellitus, their adult family members, and women without a history of gestational diabetes."; 1383; "BetaGene"; ; rdfs:label "Genetics of Pancreatic Beta-cell Failure in Mexican-Americans"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8624 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8626 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8624; "type 2 diabetes"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "BetaGene recruited non-diabetic women with a history of gestational diabetes mellitus (GDM), their adult family members, and women without history of GDM." . _:20332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8626; "gestational diabetes mellitus"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "BetaGene recruited non-diabetic women with a history of gestational diabetes mellitus (GDM), their adult family members, and women without history of GDM." . _:20342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12817364/fullTextXML"; rdfs:comment "We used data from the BetaGene study, which is a cross-sectional family-based study of Mexican Americans from Los Angeles County." . _:20352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002228"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Genetics of Pancreatic Beta-cell Failure in Mexican-Americans (BetaGene)" . _:20362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Mexican Americans in the Los Angeles area, United States, designed to identify genetic determinants of pancreatic β-cell function, which recruited non-diabetic women with a history of gestational diabetes mellitus, their adult family members, and women without a history of gestational diabetes."; "PMID:24124113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1383; "individuals analysed cross-sectionally (stated as up to; analysed subset), 2014"; "PMID:24728128"; rdfs:comment "We tested rs10830963 for association with cross-sectional diabetes-related traits in up to 1,383 individuals or with rate of change in the same phenotypes over a 3-5 year follow-up in up to 374 individuals from the family-based BetaGene study of Mexican Americans." . _:20382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BetaGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8633, _:genid-371333f489424440b12a13b9d98ced822608-genid8635; , ; , , , , , , , ; "GCST90565218"; "An international consortium of epidemiological cohorts from Europe, the United States and Japan with detailed clinical information on dental diseases, within which genome-wide association studies of dental caries and periodontitis are conducted and meta-analysed."; 26792; "GLIDE", "Gene-Lifestyle Interactions and Dental Endpoints", "Gene-Lifestyle Interactions and Dental Endpoints Consortium", "Gene-Lifestyle Interactions in Dental Endpoints consortium"; ; rdfs:label "Gene-Lifestyle Interactions in Dental Endpoints"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8633 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8635 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8633; "periodontitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591304/fullTextXML"; rdfs:comment "the Gene-Lifestyle Interactions in Dental Endpoints (GLIDE) consortium18, which is a unique collection of epidemiological cohorts with detailed information on clinical endpoints of dental diseases" . _:203a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8635; "dental caries"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591304/fullTextXML"; rdfs:comment "the Gene-Lifestyle Interactions in Dental Endpoints (GLIDE) consortium18, which is a unique collection of epidemiological cohorts with detailed information on clinical endpoints of dental diseases" . _:203b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6591304/"; rdfs:comment "Overview of study design and participants in GLIDE The contributing studies were (1) Atherosclerosis Risk in Communities (ARIC); (2) The Center for Oral Health in Appalachia cohort 1 (COHRA1), which is part of the GENEVA caries consortium; (3) the Dental Registry and DNA Repository of the University of Pittsburgh School of Dental Medicine, (DRDR), also part of the GENEVA caries consortium; (4) the Hispanic Community Health Study/Study of Latinos (HCHS/SOL); (5) the Malmö Diet and Cancer Study (MDC); 6) the Northern Finland Birth Cohort 1966 (NFBC 1966); (7) the Study of Health in Pomerania (SHIP), (8) the Study of Health in Pomerania Trend (SHIP Trend); (9) TWINGENE, which is a genotyped epidemiological study recruited from the Swedish Twin Registry (TWINGENE); (10) the Women’s Genome Health Study (WGHS); (11) Biobank Japan (BBJ) and (12) Tokyo Medical and Dental University Aggressive Periodontitis Study (TMDUAGP)." . _:203c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6591304/"; rdfs:comment "Overview of study design and participants in GLIDE The contributing studies were (1) Atherosclerosis Risk in Communities (ARIC); (2) The Center for Oral Health in Appalachia cohort 1 (COHRA1), which is part of the GENEVA caries consortium; (3) the Dental Registry and DNA Repository of the University of Pittsburgh School of Dental Medicine, (DRDR), also part of the GENEVA caries consortium; (4) the Hispanic Community Health Study/Study of Latinos (HCHS/SOL); (5) the Malmö Diet and Cancer Study (MDC); 6) the Northern Finland Birth Cohort 1966 (NFBC 1966); (7) the Study of Health in Pomerania (SHIP), (8) the Study of Health in Pomerania Trend (SHIP Trend); (9) TWINGENE, which is a genotyped epidemiological study recruited from the Swedish Twin Registry (TWINGENE); (10) the Women’s Genome Health Study (WGHS); (11) Biobank Japan (BBJ) and (12) Tokyo Medical and Dental University Aggressive Periodontitis Study (TMDUAGP)." . _:203d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591304/fullTextXML"; rdfs:comment "The contributing studies were (1) Atherosclerosis Risk in Communities (ARIC); (2) The Center for Oral Health in Appalachia cohort 1 (COHRA1), which is part of the GENEVA caries consortium; (3) the Dental Registry and DNA Repository of the University of Pittsburgh School of Dental Medicine, (DRDR), also part of the GENEVA caries consortium; (4) the Hispanic Community Health Study/Study of Latinos (HCHS/SOL); (5) the Malmö Diet and Cancer Study (MDC); 6) the Northern Finland Birth Cohort 1966 (NFBC 1966); (7) the Study of Health in Pomerania (SHIP), (8) the Study of Health in Pomerania Trend (SHIP Trend); (9) TWINGENE, which is a genotyped epidemiological study recruited from the Swedish Twin Registry (TWINGENE); (10) the Women’s Genome Health Study (WGHS); (11) Biobank Japan (BBJ) and (12) Tokyo Medical and Dental University Aggressive Periodontitis Study (TMDUAGP)." . _:203e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26050256%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "All analyses were conducted within the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium in 13 studies from Europe and the USA" . _:203f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565218"; "Genome-wide association meta-analysis identifies two novel loci associated with dental caries."; "PMID:39192244", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11348739/fullTextXML"; rdfs:comment "The previous study utilized data from the Gene-Lifestyle Interactions in Dental Endpoints (GLIDE) consortium, UK Biobank (UKB), and BioBank Japan (BBJ)." . _:20402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of epidemiological cohorts from Europe, the United States and Japan with detailed clinical information on dental diseases, within which genome-wide association studies of dental caries and periodontitis are conducted and meta-analysed."; "PMID:31235808"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26792; "participants from nine GLIDE studies in the 2019 dental caries (DMFS) meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591304/fullTextXML"; rdfs:comment "There were two principal analyses; one combining DMFS (n = 26,792 from nine studies) and dentures (ncases = 77,714, ncontrols = 383,317); the other combining periodontitis (ncases = 17,353, ncontrols = 28,210 from seven studies) and loose teeth (ncases = 18,979, ncontrols = 442,052)." . _:20422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLIDE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8645; , ; "GCST90841377"; "A longitudinal observational study of cognitively normal older adults, designed to distinguish normal ageing from preclinical Alzheimer's disease, with demographic, clinical, neuropsychological, clinical biomarker and neuroimaging data, including amyloid PET acquired at Massachusetts General Hospital in Boston, United States."; 284; "HABS", "Harvard aging brain study"; ; rdfs:label "Harvard Aging Brain Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8645 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8645; "Alzheimer's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4592689/unicode"; rdfs:comment "The Harvard Aging Brain Study (HABS NIH-P01AG036694) is a longitudinal observational study designed to further our understanding of differentiating “normal” aging from preclinical Alzheimer’s Dementia (AD)." . _:20442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41549403+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared neuroimaging and cognitive profiles between cognitively unimpaired older Latino and non-Latino adults from the greater Boston area.MethodsTwenty Latino and 230 non-Latino cognitively unimpaired older adults from the Harvard Aging Brain Study were included." . _:20452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841377"; "Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease."; "PMID:37101235", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134547/fullTextXML"; rdfs:comment "These subjects were recruited from the Memory and Aging Project (MAP) at the Knight Alzheimer Disease Research Center (Knight-ADRC) [16, 17], Alzheimer's Disease Neuroimaging Initiative (ADNI) [18], the Dominantly Inherited Alzheimer Network (DIAN) [19], Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease (A4) [20], ADNI Department of Defense (ADNIDOD) studies, Australian Imaging, Biomarkers and Lifestyle (AIBL) [21], The Harvard Aging Brain Study (HABS) [22], and University of Pittsburgh (UPitt) [23]." . _:20462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational study of cognitively normal older adults, designed to distinguish normal ageing from preclinical Alzheimer's disease, with demographic, clinical, neuropsychological, clinical biomarker and neuroimaging data, including amyloid PET acquired at Massachusetts General Hospital in Boston, United States."; "PMID:25843019"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 284; "cognitively normal older adults in the longitudinal cohort (baseline), 2015"; "PMID:25843019"; rdfs:comment "The longitudinal dataset consists of a 284-subject cohort with the following modalities acquired: demographics, clinical assessment, comprehensive neuropsychological testing, clinical biomarkers, and neuroimaging." . _:20482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HABS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8652, _:genid-371333f489424440b12a13b9d98ced822608-genid8654; , , ; "GCST90449022"; "A prospective cohort study of osteoporosis and fracture in Southern Chinese women and men recruited from the community in Hong Kong between 1995 and 2010, with questionnaire, anthropometric and clinical assessments at baseline and long-term follow-up through linkage to the Hong Kong Hospital Authority's territory-wide electronic health records."; 9449; "HKOS"; ; rdfs:label "Hong Kong Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8652 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8654 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8652; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11509949/fullTextXML"; rdfs:comment "We used data from the Hong Kong Osteoporosis Study (HKOS), which was the first prospective cohort study of osteoporosis and fracture in Asia [28]." . _:204a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8654; "fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11509949/fullTextXML"; rdfs:comment "We used data from the Hong Kong Osteoporosis Study (HKOS), which was the first prospective cohort study of osteoporosis and fracture in Asia [28]." . _:204b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41735671+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aims to investigate the association between osteoporosis and the risk of age-related cataracts in cohorts from the United Kingdom (UK) and Hong Kong.MethodsProspective cohort studies were conducted in participants aged ≥ 40 years without cataracts at baseline, using data from the UK Biobank (UKB; n = 337,952) and the Hong Kong Osteoporosis Study (HKOS; n = 4,935), with a median follow-up of 13.5 and 18.5 years, respectively." . _:204c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449022"; "A genome-wide association meta-analysis of all-cause and vascular dementia."; "PMID:39046104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11497727/supplementaryFiles"; rdfs:comment "The Hong Kong Osteoporosis Study (HKOS) has been established since 1995, and the cohort was described elsewhere." . _:204d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study of osteoporosis and fracture in Southern Chinese women and men recruited from the community in Hong Kong between 1995 and 2010, with questionnaire, anthropometric and clinical assessments at baseline and long-term follow-up through linkage to the Hong Kong Hospital Authority's territory-wide electronic health records."; "PMID:39458530"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:204e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9449; "Southern Chinese women and men recruited 1995-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11509949/fullTextXML"; rdfs:comment "Between 1995 and 2010, a total of 9449 southern Chinese women and men were recruited from the community." . _:204f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8661; , ; "GCST90244788"; "An ongoing study at Henry Ford Health System of members of the health system aged 12–56, with and without a clinical diagnosis of asthma, from southeast Michigan and the Detroit metropolitan area, United States, enrolled with a staff-administered questionnaire and lung function testing to study asthma phenotypes and pharmacogenomic interactions across racial and ethnic groups."; 7627; "SAPPHIRE", "Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-ethnicity"; ; rdfs:label "Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8661 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8661; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550990/supplementaryFiles"; rdfs:comment "SAPPHIRE Recruitment The Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-ethnicity (SAPPHIRE) is an ongoing study that was approved by the Institutional Review Board of Henry Ford Health System." . _:20512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36403896+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BackgroundAlthough food allergies are considered common, relatively little is known about disparities in food allergy by race in the United States.ObjectiveTo evaluate differences in reported food allergy and food-associated anaphylaxis among individuals enrolled in a longitudinal cohort study from metropolitan Detroit, Michigan.MethodsParticipants in the Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE) were asked about food allergies, including the inciting food and associated symptoms." . _:20522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244788"; "European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation."; "PMID:37794016", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550990/supplementaryFiles"; rdfs:comment "SAPPHIRE Recruitment The Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-ethnicity (SAPPHIRE) is an ongoing study that was approved by the Institutional Review Board of Henry Ford Health System." . _:20532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing study at Henry Ford Health System of members of the health system aged 12–56, with and without a clinical diagnosis of asthma, from southeast Michigan and the Detroit metropolitan area, United States, enrolled with a staff-administered questionnaire and lung function testing to study asthma phenotypes and pharmacogenomic interactions across racial and ethnic groups."; "PMID:37794016"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7627; "analysed subset: SAPPHIRE participants in the 2022 food allergy analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10085828/"; rdfs:comment "Of the 7,627 SAPPHIRE participants included in this analysis, 6,253 (82%) had a prior diagnosis of asthma, and 1,374 (18%) had no earlier history of asthma at the time of enrollment." . _:20552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAPPHIRE"; . a owl:NamedIndividual, ; , , , , ; "GCST90861010"; "A prospective birth cohort of pregnant South Asian women aged 18–40 and their offspring, recruited in urban Bangalore and rural Solur in Karnataka, India, and in the Peel region of Ontario, Canada, with questionnaires, anthropometry, a glucose tolerance test, and blood and DNA samples in pregnancy, newborn measurements and follow-up of the children to age 3, to study the environmental and genetic determinants of adiposity among South Asians."; 3024; "START", "SouTh Asian BiRth CohorT", "SouTh Asian biRth cohorT", "SouTh Asian birth cohoRT", "South Asian Birth Cohort Study"; ; rdfs:label "South Asian Birth Cohort"@en . _:20562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23356884%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The South Asian Birth Cohort Study (START) will investigate the environmental and genetic basis of adiposity among 750 South Asian offspring recruited from highly divergent environments, namely, rural and urban India and urban Canada." . _:20572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29400265%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Socio-economic, environmental and nutritional characteristics of urban and rural South Indian women in early pregnancy: findings from the South Asian Birth Cohort (START)." . _:20582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90861010"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "CHILD, FAMILY and START cohort We express our sincere gratitude to all the participating families of the CHILD, FAMILY and START studies for their contribution, dedication, and commitment to advancing health research." . _:20592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of pregnant South Asian women aged 18–40 and their offspring, recruited in urban Bangalore and rural Solur in Karnataka, India, and in the Peel region of Ontario, Canada, with questionnaires, anthropometry, a glucose tolerance test, and blood and DNA samples in pregnancy, newborn measurements and follow-up of the children to age 3, to study the environmental and genetic determinants of adiposity among South Asians."; "PMID:23356884"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:205a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3024; "mothers and children (families) in the Maelstrom catalogue entry"; "https://www.maelstrom-research.org/study/start"; rdfs:comment "Number of Participants 3,024" . _:205b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "START"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8674; , ; ; "GCST90726618"; "The clinical cohort of the TRIUMPH biomarker programme: an observational prospective study of adults admitted with acute heart failure, newly diagnosed or decompensated chronic, to 14 hospitals in the Netherlands between September 2009 and December 2013, with repeated blood sampling during one year of follow-up to validate prognostic biomarkers."; 496; "TRIUMPH", "Translational Initiative on Unique and Novel Strategies for Management of Patients With Heart Failure", "Translational Initiative on Unique and Novel Strategies for Management of Patients with Heart Failure", "Translational Initiative on Unique and novel strategies for Management of Patients with Heart failure"; ; rdfs:label "TRanslational Initiative on Unique and novel strategies for Management of Patients with Heart failure"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8674 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:205c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8674; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29187387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the TRIUMPH (Translational Initiative on Unique and Novel Strategies for Management of Patients with Heart Failure) clinical cohort study, 496 acute HF patients were enrolled in 14 hospitals in The Netherlands, between 2009 and 2014." . _:205d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "TRIUMPH (TRanslational Initiative on Unique and novel strategies for Management of Patients with Heart failure, NTR1893), is an observational prospective study of patients admitted with acute HF in 14 hospitals in the Netherlands between September 2009 and December 2013." . _:205e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726618"; "Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes."; "PMID:40038546", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "TRIUMPH (TRanslational Initiative on Unique and novel strategies for Management of Patients with Heart failure, NTR1893), is an observational prospective study of patients admitted with acute HF in 14 hospitals in the Netherlands between September 2009 and December 2013." . _:205f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The clinical cohort of the TRIUMPH biomarker programme: an observational prospective study of adults admitted with acute heart failure, newly diagnosed or decompensated chronic, to 14 hospitals in the Netherlands between September 2009 and December 2013, with repeated blood sampling during one year of follow-up to validate prognostic biomarkers."; "PMID:29187387"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 496; "acute heart failure patients enrolled in the clinical cohort (2014)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5778986/fullTextXML"; rdfs:comment "A total of 496 patients were enrolled in the TRIUMPH clinical cohort." . _:20612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRIUMPH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8681; , ; ; "GCST90301368"; "A case-control sample for genome-wide association studies of ischaemic stroke and its subtypes, comprising stroke patients of European ancestry admitted to four clinical centres in Australia (Gosford Hospital, John Hunter Hospital in Newcastle, The Queen Elizabeth Hospital in Adelaide and Royal Perth Hospital) between 2003 and 2008, and population controls from the Hunter Community Study."; 1230; 1280; "ASGC", "Australian Stroke Genetics Collaboration"; ; rdfs:label "Australian Stroke Genetics Collaborative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8681; "ischemic stroke"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3651583/unicode"; rdfs:comment "ASGC stroke cases comprised stroke patients of European ancestry who were admitted to four clinical centers across Australia (The Neurosciences Department at Gosford Hospital, Gosford; the Neurology Department at John Hunter Hospital, Newcastle; The Queen Elizabeth Hospital, Adelaide; and the Royal Perth Hospital, Perth) between 2003 and 2008." . _:20632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3651583/unicode"; rdfs:comment "ASGC stroke cases comprised stroke patients of European ancestry who were admitted to four clinical centers across Australia (The Neurosciences Department at Gosford Hospital, Gosford; the Neurology Department at John Hunter Hospital, Newcastle; The Queen Elizabeth Hospital, Adelaide; and the Royal Perth Hospital, Perth) between 2003 and 2008." . _:20642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "ASGC: Australian population control data were derived from the Hunter Community Study." . _:20652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample for genome-wide association studies of ischaemic stroke and its subtypes, comprising stroke patients of European ancestry admitted to four clinical centres in Australia (Gosford Hospital, John Hunter Hospital in Newcastle, The Queen Elizabeth Hospital in Adelaide and Royal Perth Hospital) between 2003 and 2008, and population controls from the Hunter Community Study."; "PMID:22941190"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1230; "ischaemic stroke cases and Hunter Community Study controls genotyped for the discovery GWAS (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3651583/unicode"; rdfs:comment "We conducted a GWAS of ischemic stroke in an Australian sample of European ancestry involving 1,230 cases and 1,280 population controls." . _:20672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1280; "ischaemic stroke cases and Hunter Community Study controls genotyped for the discovery GWAS (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3651583/unicode"; rdfs:comment "We conducted a GWAS of ischemic stroke in an Australian sample of European ancestry involving 1,230 cases and 1,280 population controls." . _:20682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASGC"; . a owl:NamedIndividual, ; , , ; , , , ; "GCST90502757"; "A consortium that facilitates joint analysis of genetic data from multiple studies to identify human genomic loci influencing traits related to early growth, from the fetus to young adulthood, such as birth weight and length, gestational duration, head circumference, childhood body mass index and obesity, and pubertal growth."; 321223; "EGG"; ; rdfs:label "Early Growth Genetics Consortium"@en . _:20692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6447695/fullTextXML"; rdfs:comment "Amsterdam Born Children and their Development https://abcd-studie.nl/ 20813863" . _:206a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3370100/"; rdfs:comment "Essen Obesity Study (ESSEN) PCA adjusted" . _:206b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6447695/"; rdfs:comment "SKOT Småbørns Kost Og Trivsel https://skot.ku.dk/om-projektet/english/ 28947836" . _:206c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26978208+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were of European ancestry from population- or community-based studies in Europe, North America, or Australia and were part of the Early Growth Genetics Consortium." . _:206d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502757"; "Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects."; "PMID:39885687", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Early Growth Genetics (EGG) Consortium is a collaboration of multiple GWAS efforts to identify genetic loci that impact multiple traits related to early growth.16 We obtained summary statistics from the most recently published childhood standardized BMIz GWAS16 (excluding participants from the Norwegian Mother and Child Cohort [MoBa]) for inclusion in our meta-analysis." . _:206e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium that facilitates joint analysis of genetic data from multiple studies to identify human genomic loci influencing traits related to early growth, from the fetus to young adulthood, such as birth weight and length, gestational duration, head circumference, childhood body mass index and obesity, and pubertal growth."; "https://egg-consortium.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:206f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 321223; "individuals with own birth weight in the 2019 EGG fetal birth weight GWAS meta-analysis"; "PMID:31043758"; rdfs:comment "In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel)." . _:20702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8697, _:genid-371333f489424440b12a13b9d98ced822608-genid8699, _:genid-371333f489424440b12a13b9d98ced822608-genid8701; , ; ; "GCST90301368"; "A population-based incidence study of all acute vascular events in a defined population covered by nine primary care practices in Oxfordshire, United Kingdom, in which patients presenting with such events, including transient ischaemic attack and stroke, have been ascertained prospectively since 2002 and followed up."; 2305; "OXVASC", "OxVasc", "Oxford Vascular study"; ; rdfs:label "Oxford Vascular Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8697 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8699 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8701 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8697; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30784556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Oxford Vascular Study is a prospective incidence study of all vascular events in a population of 92 728 people residing in Oxfordshire, UK." . _:20722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8699; "transient ischaemic attack"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30784556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Oxford Vascular Study is a prospective incidence study of all vascular events in a population of 92 728 people residing in Oxfordshire, UK." . _:20732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8701; "acute vascular events"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30784556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Oxford Vascular Study is a prospective incidence study of all vascular events in a population of 92 728 people residing in Oxfordshire, UK." . _:20742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6390174/fullTextXML"; rdfs:comment "The Oxford Vascular Study is a prospective incidence study of all vascular events in a population of 92 728 people residing in Oxfordshire, UK." . _:20752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "OXVASC: The Oxford Vascular Study was supported by the Wellcome Trust, Wolfson Foundation, Stroke Association, Medical Research Council, Dunhill Medical Trust, NIH Research (NIHR), and NIHR Oxford Biomedical Research Centre based at Oxford University Hospitals NHS Trust and University of Oxford." . _:20762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based incidence study of all acute vascular events in a defined population covered by nine primary care practices in Oxfordshire, United Kingdom, in which patients presenting with such events, including transient ischaemic attack and stroke, have been ascertained prospectively since 2002 and followed up."; "PMID:30784556"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2305; "analysed subset: patients with TIA or stroke recruited 2002-2012"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6390174/unicode"; rdfs:comment "Among 2305 patients (mean age 74·4 years [SD 13·0]), 688 (30%) had transient ischaemic attacks and 1617 (70%) had strokes." . _:20782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXVASC"; . _:20792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OxVasc"; . a owl:NamedIndividual, ; , ; "GCST90454593"; "A prospective observational cohort of postmenopausal Danish women enrolled in 1999–2001, all of whom had previously taken part in randomised placebo-controlled trials or been screened for earlier studies at the Center for Clinical and Basic Research in Copenhagen or Aalborg, established to identify risk factors for age-related diseases and linked to the Danish health registries."; 5855; "PERF", "Prospective Epidemiologic Risk Factor study", "Prospective Epidemiologic and Risk Factor study", "Prospective Epidemiological Risk Factor", "Prospective Epidemiological Risk Factor cohort", "Prospective Epidemiological Risk Factor study", "prospective epidemiological risk factor study"; ; rdfs:label "Prospective Epidemiological Risk Factor Study"@en . _:207a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10754934/fullTextXML"; rdfs:comment "All participants had previously been enrolled in randomized placebo-controlled trials or had been screened for previous studies in Copenhagen or Aalborg at the Center for Clinical and Basic Research13." . _:207b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454593"; "Citrullinated and MMP-degraded vimentin is associated with chronic pulmonary diseases and genetic variants in PADI3/PADI4 and CFH in postmenopausal women."; "PMID:38155185", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10754934/fullTextXML"; rdfs:comment "In this paper we conducted a genome wide association study (GWAS) and phenome wide association study (PheWAS) for the VICM biomarker using the Prospective Epidemiologic Risk Factor (PERF) study13, an observational cohort with 5855 women linked to the Danish health registries." . _:207c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of postmenopausal Danish women enrolled in 1999–2001, all of whom had previously taken part in randomised placebo-controlled trials or been screened for earlier studies at the Center for Clinical and Basic Research in Copenhagen or Aalborg, established to identify risk factors for age-related diseases and linked to the Danish health registries."; "PMID:38155185"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:207d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5855; "postmenopausal Danish women enrolled at baseline (PERF I) 1999-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10754934/fullTextXML"; rdfs:comment "PERF is comprised of 5855 post-menopausal Danish women, enrolled at baseline (PERF I) between 1999 and 2001." . _:207e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PERF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8714; , ; , ; ; "GCST90002423"; "A nested case-control genome-wide association study of prostate cancer within the Multiethnic Cohort Study, in which men of African American, Japanese American and Latino ancestry living in Hawaii and California with incident invasive prostate cancer, found by linkage to the SEER cancer registries, and controls matched on ethnicity, area of residence and age at cohort entry were genotyped under the Gene Environment Association Studies (GENEVA) initiative."; 9457; "A Multiethnic Genome-wide Scan of Prostate Cancer"; ; rdfs:label "Multiethnic Genome-wide Scan of Prostate Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8714 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:207f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8714; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32986714+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To better understand the genetic risk for prostate cancer across diverse populations, we performed PrediXcan and GWAS in a case-control study of 4,769 self-identified African American (2,463 cases and 2,306 controls), 2,199 Japanese American (1,106 cases and 1,093 controls), and 2,147 Latin American (1,081 cases and 1,066 controls) individuals from the Multiethnic Genome-wide Scan of Prostate Cancer." . _:20802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000306.v4.p1"; rdfs:comment "Controls were matched to cases on race/ethnicity, area of residence (California or Hawaii) and age at entry into cohort." . _:20812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000306.v4.p1"; rdfs:comment "In this study we plan to undertake a genome-wide association study (GWAS) of prostate cancer in the Multiethnic Cohort (MEC) Study." . _:20822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002423"; "Multi-ethnic transcriptome-wide association study of prostate cancer."; "PMID:32986714", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32986714+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To better understand the genetic risk for prostate cancer across diverse populations, we performed PrediXcan and GWAS in a case-control study of 4,769 self-identified African American (2,463 cases and 2,306 controls), 2,199 Japanese American (1,106 cases and 1,093 controls), and 2,147 Latin American (1,081 cases and 1,066 controls) individuals from the Multiethnic Genome-wide Scan of Prostate Cancer." . _:20832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control genome-wide association study of prostate cancer within the Multiethnic Cohort Study, in which men of African American, Japanese American and Latino ancestry living in Hawaii and California with incident invasive prostate cancer, found by linkage to the SEER cancer registries, and controls matched on ethnicity, area of residence and age at cohort entry were genotyped under the Gene Environment Association Studies (GENEVA) initiative."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000306.v4.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9457; "consented subjects (cases and controls) in the dbGaP study"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000306.v4.p1"; rdfs:comment "Total number of consented subjects: 9457" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8721, _:genid-371333f489424440b12a13b9d98ced822608-genid8723, _:genid-371333f489424440b12a13b9d98ced822608-genid8725; , ; "GCST90444398"; "A multicomponent epidemiological and neurobiological study of United States Army soldiers, funded by the US Army and the National Institute of Mental Health and carried out in 2009–2014. Its component studies combined Army administrative records with representative surveys of new soldiers, of active-duty soldiers and of brigade combat teams deploying to Afghanistan, some with neurocognitive tests and blood samples, and case-control studies of suicide attempts and deaths, to identify risk and resilience factors for suicidal behaviour and related mental disorders; its survey respondents are followed up in the Army STARRS Longitudinal Study (STARRS-LS)."; "ASTARRS", "Army STARRS", "Army Study To Assess Risk and rEsilience in Servicemembers", "Army Study to Assess Risk and Resilience in Service Members", "Army Study to Assess Risk and Resilience in Service members", "Army study to assess risk and resilience in servicemembers", "Army-STARRS", "The Army Study to Assess Risk and Resilience in Servicemembers"; ; rdfs:label "Army Study to Assess Risk and Resilience in Servicemembers"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8721 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8723 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8725 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8721; "Army service"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30104726+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "in 2008 the US Army and US National Institute of Mental Health funded the Army Study to Assess Risk and Resilience in Servicemembers (Army STARRS), a multicomponent epidemiological and neurobiological study of risk and resilience factors for suicidal thoughts and behaviors, and their psychopathological correlates among Army personnel." . _:20862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8723; "suicidal thoughts and behaviors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30104726+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "in 2008 the US Army and US National Institute of Mental Health funded the Army Study to Assess Risk and Resilience in Servicemembers (Army STARRS), a multicomponent epidemiological and neurobiological study of risk and resilience factors for suicidal thoughts and behaviors, and their psychopathological correlates among Army personnel." . _:20872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8725; "mental disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30104726+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "in 2008 the US Army and US National Institute of Mental Health funded the Army Study to Assess Risk and Resilience in Servicemembers (Army STARRS), a multicomponent epidemiological and neurobiological study of risk and resilience factors for suicidal thoughts and behaviors, and their psychopathological correlates among Army personnel." . _:20882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3992857/unicode"; rdfs:comment "NSS respondents were selected from three Army installations that provide BCT (Fort Benning, Georgia; Fort Jackson, South Carolina; and Fort Leonard Wood, Missouri) with sample sizes proportional to the relative sizes of the cohorts across these sites." . _:20892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444398"; "Uncommon Protein-Coding Variants Associated With Suicide Attempt in a Diverse Sample of U.S. Army Soldiers."; "PMID:38141912", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38141912+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we advance this search for genetic risk by analyzing the association between suicide attempt and uncommon variation exome-wide in a large, ancestrally diverse sample.MethodsWe sequenced whole genomes of 13,584 soldiers from the Army STARRS (Army Study to Assess Risk and Resilience in Servicemembers), including 979 individuals with a history of suicide attempt." . _:208a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicomponent epidemiological and neurobiological study of United States Army soldiers, funded by the US Army and the National Institute of Mental Health and carried out in 2009–2014. Its component studies combined Army administrative records with representative surveys of new soldiers, of active-duty soldiers and of brigade combat teams deploying to Afghanistan, some with neurocognitive tests and blood samples, and case-control studies of suicide attempts and deaths, to identify risk and resilience factors for suicidal behaviour and related mental disorders; its survey respondents are followed up in the Army STARRS Longitudinal Study (STARRS-LS)."; "PMID:30104726"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:208b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASTARRS"; . _:208c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Army STARRS"; . _:208d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Army-STARRS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8733; , ; ; "GCST90841394"; "A family-based asthma genetics study initiated in Barbados in 1993 on nuclear and extended families, self-reported as African Caribbean, of paediatric asthmatic probands referred from local polyclinics or the Accident and Emergency Department of the Queen Elizabeth Hospital, with recruitment continuing through the Chronic Disease Research Centre in Barbados."; 1527; "BAGS", "Barbados Genetics of Asthma Study", "The Genetics and Epidemiology of Asthma in Barbados"; ; rdfs:label "Barbados Asthma Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8733 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:208e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8733; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076528/supplementaryFiles"; rdfs:comment "In 1993, the Barbados Asthma Genetics Study (BAGS) was initiated on nuclear and extended asthmatic families who self-reported as African Caribbean, resulting in the first evidence for linkage for asthma and tIgE in an African-ancestry population, and the development of novel family-based methods." . _:208f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076528/supplementaryFiles"; rdfs:comment "Recruitment into the BAGS program was enhanced through its involvement in the international Genetics of Asthma International Network (1999-2001) and the current sample of >1300 participants continues to grow through the efforts of collaborators and nursing staff at the Chronic Disease Research Centre in Barbados." . _:20902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841394"; "Determinants of mosaic chromosomal alteration fitness."; "PMID:38714703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11076528/supplementaryFiles"; rdfs:comment "In 1993, the Barbados Asthma Genetics Study (BAGS) was initiated on nuclear and extended asthmatic families who self-reported as African Caribbean, resulting in the first evidence for linkage for asthma and tIgE in an African-ancestry population, and the development of novel family-based methods." . _:20912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based asthma genetics study initiated in Barbados in 1993 on nuclear and extended families, self-reported as African Caribbean, of paediatric asthmatic probands referred from local polyclinics or the Accident and Emergency Department of the Queen Elizabeth Hospital, with recruitment continuing through the Chronic Disease Research Centre in Barbados."; "PMID:15940135", "PMID:38714703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1527; "consented subjects in the TOPMed BAGS dbGaP study"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001143.v4.p1"; rdfs:comment "Total number of consented subjects: 1527" . _:20932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8740, _:genid-371333f489424440b12a13b9d98ced822608-genid8742, _:genid-371333f489424440b12a13b9d98ced822608-genid8744; , ; ; "GCST90129576"; "A population-based case-control study of breast cancer in two French départements, Côte d'Or and Ille-et-Vilaine, in which women under 75 years of age with invasive or in situ breast carcinoma diagnosed from April 2005 to March 2007 and population controls frequency-matched to them by age, recruited over the same period, were interviewed in person by trained nurses, most also giving a blood sample; it has been used to study occupational, environmental and genetic risk factors for breast cancer."; 1235; 1317; "CECILE", "CECILE Breast cancer Study", "CECILE Study", "CECILE study"; ; rdfs:label "CECILE Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8740 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8742 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8744 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8740; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6351946/fullTextXML"; rdfs:comment "We conducted a population-based case-control study on breast cancer in Côte d’Or and Ille-et-Vilaine, two administrative areas (départements) located in Eastern and Western part of France, respectively." . _:20952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8742; "organochlorine compounds (DDE, PCB153)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30669331+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Plasma levels of the OCs p,p'-dichlorodiphenyl dichloroethene (DDE) and polychlorinated biphenyl congener 153 (PCB153) were measured in 695 cases and 1055 controls of a population-based case-control study conducted in France (CECILE study)." . _:20962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8744; "lifetime occupational history"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30669331+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Plasma levels of the OCs p,p'-dichlorodiphenyl dichloroethene (DDE) and polychlorinated biphenyl congener 153 (PCB153) were measured in 695 cases and 1055 controls of a population-based case-control study conducted in France (CECILE study)." . _:20972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6351946/fullTextXML"; rdfs:comment "We conducted a population-based case-control study on breast cancer in Côte d’Or and Ille-et-Vilaine, two administrative areas (départements) located in Eastern and Western part of France, respectively." . _:20982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The CECILE study was supported by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale contre le Cancer, Agence Nationale de Sécurité Sanitaire, de l'Alimentation, de l'Environnement et du Travail (ANSES), Agence Nationale de la Recherche (ANR)." . _:20992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer in two French départements, Côte d'Or and Ille-et-Vilaine, in which women under 75 years of age with invasive or in situ breast carcinoma diagnosed from April 2005 to March 2007 and population controls frequency-matched to them by age, recruited over the same period, were interviewed in person by trained nurses, most also giving a blood sample; it has been used to study occupational, environmental and genetic risk factors for breast cancer."; "PMID:30669331"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:209a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1235; "breast cancer cases and population controls interviewed, 2005-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6351946/fullTextXML"; rdfs:comment "Among the 1556 eligible cases identified, 163 refused to participate, 151 could not be contacted and 7 died before the interview, leaving 1235 cases included in the study." . _:209b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1317; "breast cancer cases and population controls interviewed, 2005-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6351946/fullTextXML"; rdfs:comment "Among the 1556 eligible cases identified, 163 refused to participate, 151 could not be contacted and 7 died before the interview, leaving 1235 cases included in the study." . _:209c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CECILE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8752, _:genid-371333f489424440b12a13b9d98ced822608-genid8754; , ; "GCST90432152"; "A longitudinal cardiovascular biobank of patients treated at the Frankel Cardiovascular Center of Michigan Medicine, the University of Michigan health system, which has recruited since 2013, mainly patients with aortic disease, and links their genotype data to electronic health records and family history data."; "CHIP"; ; rdfs:label "Cardiovascular Health Improvement Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8752 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8754 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:209d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8752; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7923508/fullTextXML"; rdfs:comment "The primary focus is to recruit patients with aortic disease; governance is provided by three executive committees (Additional file 1, Committees)." . _:209e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8754; "aortic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7923508/fullTextXML"; rdfs:comment "The primary focus is to recruit patients with aortic disease; governance is provided by three executive committees (Additional file 1, Committees)." . _:209f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "CHIP+MGI: The Cardiovascular Health Improvement Project (CHIP) is a cohort of individuals treated at Michigan Medicine with linked genotype, EHR, and family history data." . _:20a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432152"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "CHIP+MGI: The Cardiovascular Health Improvement Project (CHIP) is a cohort of individuals treated at Michigan Medicine with linked genotype, EHR, and family history data." . _:20a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cardiovascular biobank of patients treated at the Frankel Cardiovascular Center of Michigan Medicine, the University of Michigan health system, which has recruited since 2013, mainly patients with aortic disease, and links their genotype data to electronic health records and family history data."; "PMID:33648514"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHIP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8760; , ; "GCST90244577"; "A multicentre randomised controlled trial in primary care in Bristol, Birmingham and Newcastle, United Kingdom, in which adults aged 18–74 with a new episode of depression (an ICD-10 depressive episode and a Beck Depression Inventory score of at least 15), recruited from September 2005, were randomly allocated to citalopram or reboxetine to identify genetic and clinical predictors of response to antidepressant treatment."; 601; "GENPOD", "GenPOD", "GenPod"; ; rdfs:label "GENetic and clinical Predictors Of treatment response in Depression"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8760 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8760; "depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18498636+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GenPod trial is a multi-centre randomised controlled trial. GPs referred patients aged between 18-74 years presenting with a new episode of depression, who did not have any medical contraindications to antidepressant medication and who had no history of psychosis or alcohol/substance abuse." . _:20a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2426669/fullTextXML"; rdfs:comment "The study is being conducted in three centres within the UK; Bristol, Birmingham and Newcastle." . _:20a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244577"; "Identifying the Common Genetic Basis of Antidepressant Response."; "PMID:35712048", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/fullTextXML"; rdfs:comment "The GENPOD (GENetic and clinical Predictors Of treatment response in Depression) trial was funded by the UK Medical Research Council and supported by the UK Mental Health Research Network." . _:20a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised controlled trial in primary care in Bristol, Birmingham and Newcastle, United Kingdom, in which adults aged 18–74 with a new episode of depression (an ICD-10 depressive episode and a Beck Depression Inventory score of at least 15), recruited from September 2005, were randomly allocated to citalopram or reboxetine to identify genetic and clinical predictors of response to antidepressant treatment."; "PMID:18498636"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 601; "participants randomised to citalopram or reboxetine (2008)"; "PMID:18498636"; rdfs:comment "The final number randomised to the trial was 601." . _:20a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENPOD"; . _:20a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenPOD"; . _:20aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenPod"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8769; , ; "GCST90013445"; "A Finnish collection of people with type 1 diabetes, most of them diagnosed in childhood, together with members of their families, which has contributed cases, controls and parent–offspring trios to international genetic studies of type 1 diabetes."; 1111; "IDDMGEN"; ; rdfs:label "Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8769 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8769; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5719131/fullTextXML"; rdfs:comment "We analysed data from six cohorts, independent cases from the UK Genetic Resource Investigating Diabetes (GRID) cohort [2], the Northern Irish GRID (NI) cohort (used here for the first time), and the Finnish IDDMGEN (Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen) and T1DGEN (Tyypin 1 Diabeteksen Genetiikka) cohorts [10]" . _:20ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5719131/fullTextXML"; rdfs:comment "We thank the University of Virginia for their support in genotyping samples from the Northern Irish GRID cohort, the IDDMGEN and T1DGEN cohorts from Finland and the Warren cohort using the T1DGC grant (U01 DK062418) and JDRF grant (JDRF 9-2011-530)." . _:20ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "These studies include the Type 1 Diabetes Genetics Consortium (T1DGC), British 1958 Birth Cohort, Genetic Resource Investigating Diabetes (GRID), Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis (CLEAR), Epidemiology of Diabetes Interventions and Complications (EDIC), Genetics of Kidneys and Diabetes Study (GoKinD), New York Cancer Project (NYCP), SEARCH for Diabetes in Youth study (SEARCH), Type 1 Diabetes TrialNet study (TrialNet), Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen (IDDMGEN), Tyypin 1 Diabeteksen Genetiikka (T1DGEN), Northern Ireland GRID Collection, Northern Ireland Young Hearts Project, Hvidoere Study Group on Childhood Diabetes (HSG), and International HapMap Project." . _:20ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish collection of people with type 1 diabetes, most of them diagnosed in childhood, together with members of their families, which has contributed cases, controls and parent–offspring trios to international genetic studies of type 1 diabetes."; "PMID:28983737"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1111; "analysed subset: independent type 1 diabetes cases genotyped on ImmunoChip (2017)"; "https://europepmc.org/api/getPdf?pmcid=PMC5719131"; rdfs:comment "IDDMGEN Finland Independent 1111 1073 9 (5, 12) 156,343" . _:20b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDDMGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8776, _:genid-371333f489424440b12a13b9d98ced822608-genid8778; , , , , ; "GCST90446233"; "A longitudinal, prospective, population-based study of two elderly community-dwelling populations, African Americans in Indianapolis, Indiana, and Yoruba in Ibadan, Nigeria, aged 65 years or older and free of dementia when enrolled in 1992 and 2001, who were re-evaluated every 2-3 years by in-home screening followed by clinical diagnostic assessment, to compare the incidence of dementia and Alzheimer disease between the two sites using identical methods."; "IIDP", "Indianapolis", "Indianapolis Ibadan Dementia Study"; ; rdfs:label "Indianapolis-Ibadan Dementia Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8776 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8778 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8776; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11176911+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To compare incidence rates of dementia and AD in 2 diverse, elderly community-dwelling populations." . _:20b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8778; "Alzheimer disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11176911+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To compare incidence rates of dementia and AD in 2 diverse, elderly community-dwelling populations." . _:20b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10844725%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The Indianapolis-Ibadan Dementia Project compares the rates of dementia at two sites, one in the U.S.A. and one in Nigeria." . _:20b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446233"; "Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry."; "PMID:38958117", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11350055/supplementaryFiles"; rdfs:comment "Indianapolis Cohort of the Indianapolis Ibadan Dementia Study, Indiana University (IU)." . _:20b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal, prospective, population-based study of two elderly community-dwelling populations, African Americans in Indianapolis, Indiana, and Yoruba in Ibadan, Nigeria, aged 65 years or older and free of dementia when enrolled in 1992 and 2001, who were re-evaluated every 2-3 years by in-home screening followed by clinical diagnostic assessment, to compare the incidence of dementia and Alzheimer disease between the two sites using identical methods."; "PMID:11176911", "PMID:26218444"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IIDP"; . _:20b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Indianapolis"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8785; , , , , , , ; "GCST90011857"; "A multicentre case-control study of pancreatic ductal adenocarcinoma carried out at centres in Spain, Italy, Sweden, Germany, the United Kingdom and Ireland in 2009-2014 and 2016-2018, which recruited newly diagnosed patients aged 18 and older and, as controls, sex-, age- and area-matched hospital in-patients without cancer whose primary diagnoses were not associated with known risk factors for the disease (population-based controls in Ireland and Sweden), and collected lifestyle, environmental-exposure and medical-history information by in-person interviews."; 2009; 1532; "European Study of Digestive Diseases and Genetics", "PanGenEU", "PanGenEU Study", "PanGenEU case-control study", "PanGenEU study"; ; rdfs:label "European Study into Digestive Illnesses and Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8785 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8785; "pancreatic ductal adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12663176/fullTextXML"; rdfs:comment "We observed significant differences in the proportion of stage I-II and III-IV PDAC tumors across studies, PanGenEU was the study population with the highest proportion of stage III-IV PDAC tumors and, therefore, more representative of the full spectrum of the disease." . _:20b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7849104/fullTextXML"; rdfs:comment "We used the resources from the PanGenEU case-control study conducted in Spain, Italy, Sweden, Germany, UK, and Ireland, between 2009 and 2014 [17, 18]." . _:20ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011857"; "A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer."; "PMID:33517887", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7849104/fullTextXML"; rdfs:comment "We used the resources from the PanGenEU case-control study conducted in Spain, Italy, Sweden, Germany, UK, and Ireland, between 2009 and 2014 [17, 18]." . _:20bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of pancreatic ductal adenocarcinoma carried out at centres in Spain, Italy, Sweden, Germany, the United Kingdom and Ireland in 2009-2014 and 2016-2018, which recruited newly diagnosed patients aged 18 and older and, as controls, sex-, age- and area-matched hospital in-patients without cancer whose primary diagnoses were not associated with known risk factors for the disease (population-based controls in Ireland and Sweden), and collected lifestyle, environmental-exposure and medical-history information by in-person interviews."; "PMID:33517887", "PMID:41315260"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2009; "pancreatic cancer cases and controls recruited (2020 smoking analysis)"; "PMID:32051190"; rdfs:comment "Tobacco smoking habits and other relevant information were obtained from 2,009 cases and 1,532 controls recruited in the PanGenEU study using standardized tools." . _:20bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1532; "pancreatic cancer cases and controls recruited (2020 smoking analysis)"; "PMID:32051190"; rdfs:comment "Tobacco smoking habits and other relevant information were obtained from 2,009 cases and 1,532 controls recruited in the PanGenEU study using standardized tools." . _:20be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PanGenEU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8793; , , ; ; "GCST90090980"; "A multicentre case-control study of female breast cancer conducted in Seoul, South Korea, since 1995, which recruited women with histologically confirmed incident breast cancer at university hospitals in Seoul, among them Seoul National University Hospital and Asan Medical Center, and cancer-free controls from health examinees at the same hospitals or in community health screening programmes, collecting risk-factor information by face-to-face interviews with a structured questionnaire."; 4601; 4647; "SEBCS", "SeBCS"; ; rdfs:label "Seoul Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8793; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3859856/fullTextXML"; rdfs:comment "The parent study was the Seoul Breast Cancer Study (SeBCS), which is a multicenter case-control study of incident breast cancer patients and controls recruited from hospitals or the community that has been conducted beginning in 1995." . _:20c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3446390/supplementaryFiles"; rdfs:comment "Breast cancer cases and controls were recruited from the Seoul Breast Cancer Study (SeBCS), a hospital-based case-control study of female breast cancer conducted in Seoul, Korea since 1995." . _:20c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90090980"; "Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants."; "PMID:32139696", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "This study also contributed 5,574 cases and 3,793 controls 106 for the replication study genotyped by Sequenom. 107 Seoul Breast Cancer Study (SeBCS): 108 The SeBCS is a hospital-based case-control study conducted in two teaching hospitals 109 in Seoul.9,10 Total 2,342 incident breast patients histopathologically diagnosed with 110 primary breast cancer were included in this project and they were consecutively 111 recruited between 2001 and 2007." . _:20c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of female breast cancer conducted in Seoul, South Korea, since 1995, which recruited women with histologically confirmed incident breast cancer at university hospitals in Seoul, among them Seoul National University Hospital and Asan Medical Center, and cancer-free controls from health examinees at the same hospitals or in community health screening programmes, collecting risk-factor information by face-to-face interviews with a structured questionnaire."; "PMID:22452962", "PMID:24349656", "PMID:27057831"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4601; "breast cancer cases (2001-2007) and cancer-free controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4998747/fullTextXML"; rdfs:comment "Details of the study have been previously published.12 The cases (N = 4601) consisted of women diagnosed with breast cancer admitted to 3 university hospitals in Seoul from 2001 to 2007, which accounts for about 15% to 18% of the total treated breast cancer patients in Korea." . _:20c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4647; "breast cancer cases (2001-2007) and cancer-free controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4998747/fullTextXML"; rdfs:comment "Details of the study have been previously published.12 The cases (N = 4601) consisted of women diagnosed with breast cancer admitted to 3 university hospitals in Seoul from 2001 to 2007, which accounts for about 15% to 18% of the total treated breast cancer patients in Korea." . _:20c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEBCS"; . _:20c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SeBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8802; , ; ; "GCST90267402"; "A population-based case-control study of non-Hodgkin lymphoma in the San Francisco Bay Area, California, that enrolled residents of six Bay Area counties aged 20-85 with incident non-Hodgkin lymphoma diagnosed from 2001 through 2006, identified through the cancer registry by rapid case ascertainment, and controls found by random-digit dialling and from Medicare lists, frequency-matched to the cases on age, sex and county, with in-person interviews, blood or buccal specimens and expert re-review of the cases' pathology."; 2055; 2081; "SF Bay Area NHL2 study", "SF-NHL2", "UCSF2", "University of California at San Francisco Molecular Epidemiology of Non-Hodgkin Lymphoma study"; ; rdfs:label "Molecular Epidemiology of non-Hodgkin lymphoma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8802; "non-Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136881/fullTextXML"; rdfs:comment "A population-based case-control study of NHL (2,055 cases, 2,081 controls) that included incident cases diagnosed from 2001 through 2006 was conducted in the San Francisco Bay Area." . _:20c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136881/fullTextXML"; rdfs:comment "A population-based case-control study of NHL (2,055 cases, 2,081 controls) that included incident cases diagnosed from 2001 through 2006 was conducted in the San Francisco Bay Area." . _:20c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267402"; "Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes."; "PMID:36273105", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10337695/unicode"; rdfs:comment "For GWAS with multiple NHL subtypes using the same set of controls (e.g., NCI NHL, UCSF2), association testing was conducted for all NHL subtypes combined, adjusting for age, sex, and significant principal components, in a single analysis and then meta-analyzed with the other GWAS." . _:20ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of non-Hodgkin lymphoma in the San Francisco Bay Area, California, that enrolled residents of six Bay Area counties aged 20-85 with incident non-Hodgkin lymphoma diagnosed from 2001 through 2006, identified through the cancer registry by rapid case ascertainment, and controls found by random-digit dialling and from Medicare lists, frequency-matched to the cases on age, sex and county, with in-person interviews, blood or buccal specimens and expert re-review of the cases' pathology."; "PMID:18636124", "PMID:25133503"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2055; "incident NHL cases diagnosed 2001-2006 and population controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136881/fullTextXML"; rdfs:comment "A population-based case-control study of NHL (2,055 cases, 2,081 controls) that included incident cases diagnosed from 2001 through 2006 was conducted in the San Francisco Bay Area." . _:20cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2081; "incident NHL cases diagnosed 2001-2006 and population controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136881/fullTextXML"; rdfs:comment "A population-based case-control study of NHL (2,055 cases, 2,081 controls) that included incident cases diagnosed from 2001 through 2006 was conducted in the San Francisco Bay Area." . _:20cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SF-NHL2"; . _:20ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCSF2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8811, _:genid-371333f489424440b12a13b9d98ced822608-genid8813, _:genid-371333f489424440b12a13b9d98ced822608-genid8815, _:genid-371333f489424440b12a13b9d98ced822608-genid8817, _:genid-371333f489424440b12a13b9d98ced822608-genid8819; "GCST90091212"; "A case-control sample for lifetime suicide attempt of people of European ancestry, drawn from participants of six clinical trials conducted by Janssen Research & Development, with clinician-diagnosed major depressive disorder, schizophrenia, schizoaffective disorder or bipolar disorder, and from control samples of the NINDS Human Genetics Repository at the Coriell Institute and of BioIVT, with lifetime suicide-attempt history taken from clinical interview and medical records."; 255; 1684; "Janssen"; ; rdfs:label "Janssen lifetime suicide attempt cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8811 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8813 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8815 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8817 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8819 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8811; "suicide attempt"; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322321015705-mmc1.pdf"; rdfs:comment "The clinical diagnosis of MDD, schizophrenia, schizoaffective disorder, and bipolar disorder in Janssen clinical studies were based on expert clinician interviews conducted using DSM-IV-TR criteria." . _:20d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8813; "major depressive disorder"; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322321015705-mmc1.pdf"; rdfs:comment "The clinical diagnosis of MDD, schizophrenia, schizoaffective disorder, and bipolar disorder in Janssen clinical studies were based on expert clinician interviews conducted using DSM-IV-TR criteria." . _:20d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8815; "bipolar disorder"; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322321015705-mmc1.pdf"; rdfs:comment "The clinical diagnosis of MDD, schizophrenia, schizoaffective disorder, and bipolar disorder in Janssen clinical studies were based on expert clinician interviews conducted using DSM-IV-TR criteria." . _:20d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8817; "schizophrenia"; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322321015705-mmc1.pdf"; rdfs:comment "The clinical diagnosis of MDD, schizophrenia, schizoaffective disorder, and bipolar disorder in Janssen clinical studies were based on expert clinician interviews conducted using DSM-IV-TR criteria." . _:20d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8819; "schizoaffective disorder"; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322321015705-mmc1.pdf"; rdfs:comment "The clinical diagnosis of MDD, schizophrenia, schizoaffective disorder, and bipolar disorder in Janssen clinical studies were based on expert clinician interviews conducted using DSM-IV-TR criteria." . _:20d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091212"; "Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors."; "PMID:34861974", "https://ars.els-cdn.com/content/image/1-s2.0-S0006322321015705-mmc1.pdf"; rdfs:comment "The Janssen lifetime suicide attempt cohort consisted of subjects of European ancestry and was drawn from multiple clinical trial samples (NCT00044681, NCT00397033, NCT00412373, NCT00334126, NCT01193153, NCT00094926) conducted by Janssen Research & Development, LLC" . _:20d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample for lifetime suicide attempt of people of European ancestry, drawn from participants of six clinical trials conducted by Janssen Research & Development, with clinician-diagnosed major depressive disorder, schizophrenia, schizoaffective disorder or bipolar disorder, and from control samples of the NINDS Human Genetics Repository at the Coriell Institute and of BioIVT, with lifetime suicide-attempt history taken from clinical interview and medical records."; "PMID:34861974"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 255; "suicide-attempt cases and controls in the ISGC GWAS (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8851871/"; rdfs:comment "Janssen (EUR) 255 1684" . _:20d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1684; "suicide-attempt cases and controls in the ISGC GWAS (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8851871/"; rdfs:comment "Janssen (EUR) 255 1684" . _:20d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Janssen"; . a owl:NamedIndividual, ; ; "GCST90267908"; "An international collaborative network of neuroimaging and genetics researchers at institutions worldwide, organised into working groups, that pools and meta-analyses brain MRI and genetic data from many sites, including patient populations, to find genetic and other factors that affect brain structure and function in health and disease; its first project was a genome-wide association study of hippocampal and intracranial volume."; 50000; "ENIGMA", "ENIGMA Consortium", "Enhancing Neuro-Imaging Genetics Through Meta-Analysis", "Enhancing NeuroImaging Genetics through Meta Analysis", "Enhancing NeuroImaging Genetics through Meta-Analysis"; ; rdfs:label "Enhancing NeuroImaging Genetics through Meta-Analysis Consortium"@en . _:20d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnn.4398/MediaObjects/41593_2016_BFnn4398_MOESM27_ESM.xlsx"; rdfs:comment "TOP | ENIGMA | Case-control (SCZ, BD, other psychoses, and healthy controls) | European | 849 | 407 | 34.0 (10.4) | 17 - 73 | 305 | 145 | 35.4 (9.9) | 18 - 73" . _:20da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267908"; "Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes."; "PMID:37337106", "https://www.nature.com/articles/s41588-023-01425-8"; rdfs:comment "The GWAS summary statistics used in this work from following two publicly available datasets: the UKBB study (https://open.win.ox.ac.uk/ukbiobank/big40/) and the ENIGMA study (https://enigma.ini.usc.edu/research/download-enigma-gwas-results/data-agreement-for-hippocampal-volume-gwas-download/)." . _:20db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaborative network of neuroimaging and genetics researchers at institutions worldwide, organised into working groups, that pools and meta-analyses brain MRI and genetic data from many sites, including patient populations, to find genetic and other factors that affect brain structure and function in health and disease; its first project was a genome-wide association study of hippocampal and intracranial volume."; "PMID:24399358", "PMID:32198361", "https://enigma.ini.usc.edu/about-2/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50000; "people with imaging and genetic data in ENIGMA's genetic studies (\"more than 50,000\"), 2020"; "PMID:32198361"; rdfs:comment "In addition, ENIGMA’s genetic studies are now analyzing imaging and genetics data from more than 50,000 people to uncover genetic markers that most robustly associated with brain structure and function, or imaging derived neurobiological traits related to various disease conditions13–16." . _:20dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENIGMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8831, _:genid-371333f489424440b12a13b9d98ced822608-genid8833; , ; ; "GCST90454541"; "A prospective population-based cohort of inhabitants aged 14 or older of the county of Tirschenreuth in north-eastern Bavaria, Germany, one of the German counties hardest hit by SARS-CoV-2 in spring 2020, randomly selected with stratification by sex and municipality, who gave blood samples and questionnaires at a baseline survey in June-July 2020 and at follow-ups in November 2020 and April 2021, to determine SARS-CoV-2 seroprevalence and its course over time, including undetected infections, the durability of antibody responses and new infections."; 4203; "Prospective Covid-19 Cohort Tirschenreuth", "TiKoCo", "TiKoCo-19", "TiKoCo19", "Tirschenreuth COVID-19 cohort study"; ; rdfs:label "Tirschenreuth Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8831 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8833 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8831; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35746640+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Herein, we provide results from a prospective population-based longitudinal follow-up (FU) SARS-CoV-2 serosurveillance study in Tirschenreuth, the county which was hit hardest in Germany in spring 2020 and early 2021." . _:20df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8833; "SARS-CoV-2 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35746640+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Herein, we provide results from a prospective population-based longitudinal follow-up (FU) SARS-CoV-2 serosurveillance study in Tirschenreuth, the county which was hit hardest in Germany in spring 2020 and early 2021." . _:20e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9228731/fullTextXML"; rdfs:comment "Herein, we provide results from a prospective population-based longitudinal follow-up (FU) SARS-CoV-2 serosurveillance study in Tirschenreuth, the county which was hit hardest in Germany in spring 2020 and early 2021." . _:20e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454541"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19 Task Force (JapanTaskForce), Lifelines, Norwegian Mother, Father and Child Cohort Study (MoBa), Mount Sinai COVID Biobank (MSCIC), Penn Medicine BioBank (PMBB), Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI), Tirschenreuth Study (TiKoCo), TwinsUK, UK Biobank and Understanding Society—UK Household Longitudinal Study." . _:20e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of inhabitants aged 14 or older of the county of Tirschenreuth in north-eastern Bavaria, Germany, one of the German counties hardest hit by SARS-CoV-2 in spring 2020, randomly selected with stratification by sex and municipality, who gave blood samples and questionnaires at a baseline survey in June-July 2020 and at follow-ups in November 2020 and April 2021, to determine SARS-CoV-2 seroprevalence and its course over time, including undetected infections, the durability of antibody responses and new infections."; "PMID:34200766", "PMID:35746640"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4203; "individuals aged 14+ enrolled at baseline (2020)"; "PMID:35746640"; rdfs:comment "Of 4203 individuals aged 14 years or older enrolled at baseline (BL, June 2020), 3546 participated at FU1 (November 2020) and 3391 at FU2 (April 2021)." . _:20e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TiKoCo"; . _:20e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TiKoCo-19"; . _:20e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TiKoCo19"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8842, _:genid-371333f489424440b12a13b9d98ced822608-genid8844, _:genid-371333f489424440b12a13b9d98ced822608-genid8846; , ; "GCST90824165"; "A prospective cohort study of HIV infection and AIDS in Amsterdam, the Netherlands, a collaboration of the Public Health Service of Amsterdam, Amsterdam University Medical Centers, Sanquin Blood Supply and other partners, which since 1984 has followed an open cohort of men who have sex with men and from 1985 until 2016 followed a cohort of people who use drugs, to study the prevalence, incidence and risk factors of HIV infection and AIDS and the natural history of HIV-1 infection, and to carry out intervention studies and evaluate prevention programmes."; "The acronym ACS also denotes Australia Cancer Study (COHO:0000013); this term is Amsterdam Cohort Studies on HIV infection and AIDS."@en; "ACS", "ACS_b", "Amsterdam Cohort Studies", "Amsterdam Cohort Studies on HIV Infection and AIDS", "Amsterdam Cohort Studies on HIV-1 infection and AIDS", "Amsterdam cohort studies on HIV infection and AIDS"; ; rdfs:label "Amsterdam Cohort Studies on HIV infection and AIDS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8842 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8844 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8846 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8842; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9586643+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aims of the ACS are to study the prevalence, incidence, and risk factors for HIV infection and AIDS, to study the natural history of HIV-1 infection, to carry out intervention studies, and to evaluate prevention programs." . _:20e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8844; "AIDS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9586643+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aims of the ACS are to study the prevalence, incidence, and risk factors for HIV infection and AIDS, to study the natural history of HIV-1 infection, to carry out intervention studies, and to evaluate prevention programs." . _:20e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8846; "drug use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33407562+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this manuscript, we describe how the Amsterdam Cohort Studies (ACS) among people who use drugs (PWUD) was conceived within the context of the Dutch HR approach, including the challenges scientists faced while establishing this cohort." . _:20ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Amsterdam Cohort Studies on HIV infection and AIDS (ACS) in the Netherlands" . _:20eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90824165"; "Multiancestry Genome-Wide Association Study Identifies Variants in a Zinc Finger Gene Cluster as Novel Regulators of HIV Control."; "PMID:41640362" . _:20ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study of HIV infection and AIDS in Amsterdam, the Netherlands, a collaboration of the Public Health Service of Amsterdam, Amsterdam University Medical Centers, Sanquin Blood Supply and other partners, which since 1984 has followed an open cohort of men who have sex with men and from 1985 until 2016 followed a cohort of people who use drugs, to study the prevalence, incidence and risk factors of HIV infection and AIDS and the natural history of HIV-1 infection, and to carry out intervention studies and evaluate prevention programmes."; "PMID:30312336", "PMID:33407562", "PMID:9586643"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS"; . _:20ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8853, _:genid-371333f489424440b12a13b9d98ced822608-genid8855, _:genid-371333f489424440b12a13b9d98ced822608-genid8857, _:genid-371333f489424440b12a13b9d98ced822608-genid8859, _:genid-371333f489424440b12a13b9d98ced822608-genid8861, _:genid-371333f489424440b12a13b9d98ced822608-genid8863; "GCST90559230"; "A multi-study case–control collection at the Broad Institute, an extension of the Broad AF study, focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, atrioventricular nodal reentrant tachycardia, supraventricular tachycardia and bradyarrhythmia, whose samples' DNA was imported to the Broad and jointly genotyped. It was funded as part of a collaboration between the Broad Institute and Bayer AG."; 35000; "Broad CVDi", "Broad CardioVascular Disease initiative study"; ; rdfs:label "Broad Cardiovascular Disease Initiative Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8855 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8857 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8859 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8861 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8863 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8853; "bradyarrhythmia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "It is a multi-study case control collection at the Broad institute focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, Atrioventricular nodal reentrant tachycardia (AVNRT), Supraventricular tachycardia (SVT) and Bradyarrhythmia." . _:20f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8855; "atrioventricular nodal reentrant tachycardia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "It is a multi-study case control collection at the Broad institute focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, Atrioventricular nodal reentrant tachycardia (AVNRT), Supraventricular tachycardia (SVT) and Bradyarrhythmia." . _:20f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8857; "supraventricular tachycardia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "It is a multi-study case control collection at the Broad institute focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, Atrioventricular nodal reentrant tachycardia (AVNRT), Supraventricular tachycardia (SVT) and Bradyarrhythmia." . _:20f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8859; "mitral valve prolapse"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "It is a multi-study case control collection at the Broad institute focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, Atrioventricular nodal reentrant tachycardia (AVNRT), Supraventricular tachycardia (SVT) and Bradyarrhythmia." . _:20f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8861; "atrial fibrillation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "It is a multi-study case control collection at the Broad institute focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, Atrioventricular nodal reentrant tachycardia (AVNRT), Supraventricular tachycardia (SVT) and Bradyarrhythmia." . _:20f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8863; "cardiovascular disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "It is a multi-study case control collection at the Broad institute focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, Atrioventricular nodal reentrant tachycardia (AVNRT), Supraventricular tachycardia (SVT) and Bradyarrhythmia." . _:20f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559230"; "Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases."; "PMID:40050429", "https://pmc.ncbi.nlm.nih.gov/articles/PMC12094172/"; rdfs:comment "As an LD reference, the TOPMed imputed genotype data from the European ancestry participants of the Broad Cardiovascular Disease Initiative (Broad CVDi) study was used (n = 32,715)." . _:20f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-study case–control collection at the Broad Institute, an extension of the Broad AF study, focused on cardiovascular diseases including atrial fibrillation, mitral valve prolapse, atrioventricular nodal reentrant tachycardia, supraventricular tachycardia and bradyarrhythmia, whose samples' DNA was imported to the Broad and jointly genotyped. It was funded as part of a collaboration between the Broad Institute and Bayer AG."; "PMID:40050429"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 35000; "participants contributed to the collection (\"over 35,000\")"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "Over 35,000 participants were contributed to this collection with an average case control mix of 2:1." . _:20f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Broad CVDi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8869, _:genid-371333f489424440b12a13b9d98ced822608-genid8871; , ; "GCST001595"; "A population-based prospective cohort of men and women aged 25 years and older, recruited in 1995–1997 by random telephone contact from within 50 km of nine regional centres across Canada, and followed with annual mailed questionnaires, repeated interviews and bone density measurements to study osteoporosis and fractures; a youth cohort aged 16–24 was added in 2004–2006."; 9423; "CAMOS", "CaMos", "Canadian MultiCentre Osteoporosis study"; ; rdfs:label "Canadian Multicentre Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8869 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8871 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:20f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8869; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11199195+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Canadian Multicentre Osteoporosis Study (CaMos) is a prospective cohort study which will measure the incidence and prevalence of osteoporosis and fractures, and the effect of putative risk factors, in a random sample of 10,061 women and men aged > or = 25 years recruited in approximately equal numbers in nine centers across Canada." . _:20fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8871; "fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11199195+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Canadian Multicentre Osteoporosis Study (CaMos) is a prospective cohort study which will measure the incidence and prevalence of osteoporosis and fractures, and the effect of putative risk factors, in a random sample of 10,061 women and men aged > or = 25 years recruited in approximately equal numbers in nine centers across Canada." . _:20fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11199195+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Canadian Multicentre Osteoporosis Study (CaMos) is a prospective cohort study which will measure the incidence and prevalence of osteoporosis and fractures, and the effect of putative risk factors, in a random sample of 10,061 women and men aged > or = 25 years recruited in approximately equal numbers in nine centers across Canada." . _:20fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001595"; "WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk."; "PMID:22792071", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Canadian MultiCentre Osteoporosis study (CaMos) is a population-based prospective study of 9,423 men and women from across Canada, followed for fourteen years for osteoporotic outcomes and risk factors [55]." . _:20fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of men and women aged 25 years and older, recruited in 1995–1997 by random telephone contact from within 50 km of nine regional centres across Canada, and followed with annual mailed questionnaires, repeated interviews and bone density measurements to study osteoporosis and fractures; a youth cohort aged 16–24 was added in 2004–2006."; "https://camos.org/protocol/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:20fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9423; "men and women aged 25+ recruited 1995-1997 (main cohort)"; "https://camos.org/information/"; rdfs:comment "Study Population Our study population, recruited between 1995 and 1997, includes 9 423 men and women age 25 and older among which 6539 are women and 2884 are men." . _:20ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMOS"; . _:21002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CaMos"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8879; , , ; "GCST90270122"; "A prospective cohort of adults at high risk of cardiovascular disease, enrolled from November 2013 at Severance Hospital in Seoul, South Korea, to develop preventive strategies for high-risk patients. Participants qualify through high-risk hypertension, diabetes with albuminuria, end-stage renal disease on dialysis, asymptomatic atherosclerotic disease, rheumatoid arthritis treated with methotrexate and steroids, atrial fibrillation, a kidney transplant, or being a relative of a patient with early acute myocardial infarction."; 3470; "CMERC-HI", "Cardiovascular and Metabolic Disease Etiology Research Center-High Risk Cohort", "Cardiovascular and Metabolic Diseases Etiology Research Center-High Risk Cohort", "Cardiovascular and Metabolic disease Etiology Research Center-HIgh risk cohort"; ; rdfs:label "Cardiovascular and Metabolic Disease Etiology Research Center-High Risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8879 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8879; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5827083/fullTextXML"; rdfs:comment "Briefly, CMERC-HI is a prospective cohort study aimed at developing more specific preventive strategies for patients with a high risk of CVD (clinicaltrials.gov NCT02003781)." . _:21022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10164599/fullTextXML"; rdfs:comment "We selected male participants from two cohorts: The Cardiovascular Genome Center (CGC) cohort and Cardiovascular and Metabolic Disease Etiology Research Center-High Risk (CMERC-HI) cohort at a university, Seoul, Korea." . _:21032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270122"; "Genetic Variants Associated with Supernormal Coronary Arteries."; "PMID:35793981", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10164599/fullTextXML"; rdfs:comment "We selected male participants from two cohorts: The Cardiovascular Genome Center (CGC) cohort and Cardiovascular and Metabolic Disease Etiology Research Center-High Risk (CMERC-HI) cohort at a university, Seoul, Korea." . _:21042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of adults at high risk of cardiovascular disease, enrolled from November 2013 at Severance Hospital in Seoul, South Korea, to develop preventive strategies for high-risk patients. Participants qualify through high-risk hypertension, diabetes with albuminuria, end-stage renal disease on dialysis, asymptomatic atherosclerotic disease, rheumatoid arthritis treated with methotrexate and steroids, atrial fibrillation, a kidney transplant, or being a relative of a patient with early acute myocardial infarction."; "PMID:28740058"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3470; "individuals in the cohort"; "PMID:35793981"; rdfs:comment "Among 3470 individuals in the CMERC-HI cohort, 1569 males underwent coronary calcium scoring; 65 individuals with a study-feasible Framingham score but showing a score of 0 for coronary calcium were enrolled as supernormal." . _:21062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMERC-HI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8886; , ; "GCST90271928"; "A cohort of patients with cystic fibrosis enrolled from January 2004 at participating CF centres across France to study modifier genes of the disease, with longitudinal clinical data abstracted from medical records retrospectively before 2004 and collected prospectively since."; 4798; "FCGS", "FGMS", "FrGMC", "FrGMS", "French CF Gene Modifier Consortium", "French CF Gene Modifier Study", "French Cystic fibrosis Gene Modifier study", "French Gene Modifier Study"; ; rdfs:label "French CF Modifier Gene Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8886 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8886; "cystic fibrosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6519059/fullTextXML"; rdfs:comment "We retrospectively analyzed 3,328 CF patients with pancreatic insufficiency born after 1985 and recruited into the French CF Modifier Gene Study since 2004." . _:21082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4589222/fullTextXML"; rdfs:comment "In France, patients were recruited from 48 CF centers, and phenotypic information was available for 2,898 patients older than 6 years of age" . _:21092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271928"; "Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients."; "PMID:36921087", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10595435/"; rdfs:comment "FrGMS = French CF Gene Modifier Consortium (population-based)" . _:210a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with cystic fibrosis enrolled from January 2004 at participating CF centres across France to study modifier genes of the disease, with longitudinal clinical data abstracted from medical records retrospectively before 2004 and collected prospectively since."; "PMID:30058245"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:210b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4798; "patients with CF included by 1 January 2017"; "PMID:30058245"; rdfs:comment "As of January 1, 2017, 4,798 patients with CF had been included (corresponding to ~80% of all French patients with CF9)." . _:210c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FCGS"; . _:210d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FGMS"; . _:210e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FrGMC"; . _:210f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FrGMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8896; , , ; "GCST90301252"; "A case collection of people with Dupuytren's disease from Germany and Switzerland who had undergone surgical treatment for it, whose blood samples were collected by the German Dupuytren Study Group for genetic studies of the disease, with population controls taken from the PopGen and KORA studies."; 768; 1353; "GD", "German Dupuytren study"; ; rdfs:label "German Dupuytren Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8896 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8896; "Dupuytren disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "The German cohort consisted of 768 case subjects from the German Dupuytren Study and 1,353 control subjects from the PopGen and KORA studies." . _:21112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "For the German Dupuytren study cohort, blood samples were collected from case subjects from Germany and Switzerland by the German Dupuytren Study Group" . _:21122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301252"; "A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease."; "PMID:38172110", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10764787/fullTextXML"; rdfs:comment "This study (‘The Genetics and Epidemiology of Common Hand Conditions’) has UK Biobank study ID 22572; (5) The German Dupuytren Study was approved by the Ethics Commission of the Faculty of Medicine of the University of Cologne, document number 14/292." . _:21132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case collection of people with Dupuytren's disease from Germany and Switzerland who had undergone surgical treatment for it, whose blood samples were collected by the German Dupuytren Study Group for genetic studies of the disease, with population controls taken from the PopGen and KORA studies."; "PMID:28886342"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 768; "cases from the German Dupuytren Study and PopGen/KORA controls in the 2017 GWAS replication"; "PMID:28886342"; rdfs:comment "The German cohort consisted of 768 case subjects from the German Dupuytren Study and 1,353 control subjects from the PopGen and KORA studies." . _:21152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1353; "cases from the German Dupuytren Study and PopGen/KORA controls in the 2017 GWAS replication"; "PMID:28886342"; rdfs:comment "The German cohort consisted of 768 case subjects from the German Dupuytren Study and 1,353 control subjects from the PopGen and KORA studies." . _:21162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8904, _:genid-371333f489424440b12a13b9d98ced822608-genid8906; , ; "GCST90104595"; "A case–control sample of men of German ancestry with severe alcohol dependence requiring hospitalisation, recruited from consecutive admissions to psychiatry and addiction medicine departments of psychiatric hospitals in the German addiction research network, together with population-based controls, assembled for genetic studies of alcohol dependence."; 1333; 1307; "GESGA", "German Study of the Genetics of Addiction", "German Study of the Genetics of Addictions", "German Study of the Genetics of Alcoholism"; ; rdfs:label "German Study on the Genetics of Addiction"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8904 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8906 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8904; "alcohol dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6039372/fullTextXML"; rdfs:comment "The target sample comprised 1333 male patients with German ancestry having severe AD requiring hospitalization and 1307 population-based controls, previously described in Treutlein et al." . _:21182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8906; "alcohol dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6039372/fullTextXML"; rdfs:comment "The target sample comprised 1333 male patients with German ancestry having severe AD requiring hospitalization and 1307 population-based controls, previously described in Treutlein et al." . _:21192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104595"; "Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms."; "PMID:35331647" . _:211a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control sample of men of German ancestry with severe alcohol dependence requiring hospitalisation, recruited from consecutive admissions to psychiatry and addiction medicine departments of psychiatric hospitals in the German addiction research network, together with population-based controls, assembled for genetic studies of alcohol dependence."; "PMID:29901528"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:211b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1333; "male alcohol-dependent patients and population controls in the target sample"; "PMID:29901528"; rdfs:comment "The target sample comprised 1333 male patients with German ancestry having severe AD requiring hospitalization and 1307 population-based controls, previously described in Treutlein et al." . _:211c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1307; "male alcohol-dependent patients and population controls in the target sample"; "PMID:29901528"; rdfs:comment "The target sample comprised 1333 male patients with German ancestry having severe AD requiring hospitalization and 1307 population-based controls, previously described in Treutlein et al." . _:211d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GESGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8913; , , ; "GCST90860954"; "A multicentre case–control sample recruited through seven academic institutions and their affiliated hospitals in South Korea for genome-wide association studies of psychiatric disorders, with patients with DSM-IV schizophrenia or bipolar I or II disorder and a shared group of healthy controls."; 2271; "KPGP", "Korean Psychiatric Genome-Wide Association Study Project", "Korean psychiatric GWAS project"; ; rdfs:label "Korean Psychiatric GWAS Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8913 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:211e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8913; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42229218+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A cohort of 1538 individuals diagnosed with bipolar I or II disorder (DSM-IV) and 2271 healthy controls were recruited from seven academic institutions and their affiliated hospitals in South Korea through the Korean Psychiatric Genome-Wide Association Study (GWAS) Project." . _:211f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:42229218%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "A cohort of 1538 individuals diagnosed with bipolar I or II disorder (DSM-IV) and 2271 healthy controls were recruited from seven academic institutions and their affiliated hospitals in South Korea through the Korean Psychiatric Genome-Wide Association Study (GWAS) Project." . _:21202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90860954"; "Genome-wide association study and polygenic risk score analysis for bipolar disorder in the Korean population."; "PMID:42229218", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:42229218%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "A cohort of 1538 individuals diagnosed with bipolar I or II disorder (DSM-IV) and 2271 healthy controls were recruited from seven academic institutions and their affiliated hospitals in South Korea through the Korean Psychiatric Genome-Wide Association Study (GWAS) Project." . _:21212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case–control sample recruited through seven academic institutions and their affiliated hospitals in South Korea for genome-wide association studies of psychiatric disorders, with patients with DSM-IV schizophrenia or bipolar I or II disorder and a shared group of healthy controls."; "PMID:42229218"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2271; "bipolar disorder patients and shared healthy controls (schizophrenia patients counted separately)"; "PMID:42229218"; rdfs:comment "A cohort of 1538 individuals diagnosed with bipolar I or II disorder (DSM-IV) and 2271 healthy controls were recruited from seven academic institutions and their affiliated hospitals in South Korea through the Korean Psychiatric Genome-Wide Association Study (GWAS) Project." . _:21232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KPGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8920; , ; "GCST013076"; "A case–control sample for Alzheimer's disease from the Quebec founder population, assembled by Genizon BioSciences, of people aged 65 or older with probable (DSM-IV) or autopsy-confirmed Alzheimer's disease and sex-matched cognitively normal controls aged 75 or older, whose blood DNA is used in genetic studies of the disease."; 751; 751; 1502; "QFP", "Quebec Founder Population", "Quebec founder population", "Québec Founder Population"; ; rdfs:label "Quebec Founder Population cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8920 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8920; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31349112+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In an attempt to identify novel genetic variants associated with sporadic Alzheimer's disease (AD), a genome-wide association study was performed on a population isolate from Eastern Canada, referred to as the Québec Founder Population (QFP)." . _:21252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31349112+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In an attempt to identify novel genetic variants associated with sporadic Alzheimer's disease (AD), a genome-wide association study was performed on a population isolate from Eastern Canada, referred to as the Québec Founder Population (QFP)." . _:21262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST013076"; "Association of PPP2R1A with Alzheimer's disease and specific cognitive domains."; "PMID:31349112", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31349112+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In an attempt to identify novel genetic variants associated with sporadic Alzheimer's disease (AD), a genome-wide association study was performed on a population isolate from Eastern Canada, referred to as the Québec Founder Population (QFP)." . _:21272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control sample for Alzheimer's disease from the Quebec founder population, assembled by Genizon BioSciences, of people aged 65 or older with probable (DSM-IV) or autopsy-confirmed Alzheimer's disease and sex-matched cognitively normal controls aged 75 or older, whose blood DNA is used in genetic studies of the disease."; "PMID:21390209"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 751; "QFP samples in the Pfizer AD GWAS replication set"; "PMID:21390209"; rdfs:comment "1502 samples from the Quebec Founder Population (QFP) were included in the study as a replication set (case/control ratio = 1)." . _:21292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 751; "QFP samples in the Pfizer AD GWAS replication set"; "PMID:21390209"; rdfs:comment "1502 samples from the Quebec Founder Population (QFP) were included in the study as a replication set (case/control ratio = 1)." . _:212a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1502; "QFP samples in the Pfizer AD GWAS replication set"; "PMID:21390209"; rdfs:comment "1502 samples from the Quebec Founder Population (QFP) were included in the study as a replication set (case/control ratio = 1)." . _:212b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QFP"; . _:212c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Quebec Founder Population"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8930; , ; "GCST90700332"; "A German sepsis research network whose genetic studies draw on the randomised controlled trials VISEP (recruitment 2003–2005) and MAXSEP (recruitment 2007–2010), combining patients with all-cause sepsis from German hospitals who gave separate consent for genetic analyses."; 91; 649; 740; "Critical Care Trials Group of the German Sepsis Competence Network", "SepNet"; ; rdfs:label "German Sepsis Competence Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8930 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:212d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8930; "sepsis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/supplementaryFiles"; rdfs:comment "SepNet is integrated by the VISEP (recruitment in 2003-2005, registration number: NCT00135473) and MAXSEP (recruitment in 2007-2010, registration number: NCT00534287) randomised controlled trials and includes European ancestry patients with all-cause sepsis from German hospitals (Scherag et al., 2016)." . _:212e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/supplementaryFiles"; rdfs:comment "SepNet is integrated by the VISEP (recruitment in 2003-2005, registration number: NCT00135473) and MAXSEP (recruitment in 2007-2010, registration number: NCT00534287) randomised controlled trials and includes European ancestry patients with all-cause sepsis from German hospitals (Scherag et al., 2016)." . _:212f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90700332"; "Genome-wide association study of susceptibility to acute respiratory distress syndrome."; "PMID:41033104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/fullTextXML"; rdfs:comment "We performed a GWAS meta-analysis on 5115 critically ill patients, 82.8% with severe infections, comprising 716 ARDS cases and 4399 at-risk controls from three independent studies (Fig. 1, Table S1): the GENetics of SEPsis-induced ARDS Network (GEN-SEP), the Critical Care Trials Group of the German Sepsis Competence Network (SepNet), and UK Biobank (UKBB)." . _:21302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German sepsis research network whose genetic studies draw on the randomised controlled trials VISEP (recruitment 2003–2005) and MAXSEP (recruitment 2007–2010), combining patients with all-cause sepsis from German hospitals who gave separate consent for genetic analyses."; "PMID:18320153", "PMID:41033104"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 91; "SepNet patients (VISEP/MAXSEP, genetic consent) in the ARDS GWAS; ARDS cases and at-risk sepsis controls"; "PMID:41033104"; rdfs:comment "We included a total of 805 patients from the GEN-SEP cohort (304 ARDS cases and 501 at-risk controls), 740 patients from SepNet (91 ARDS cases and 649 at-risk controls), and 3570 patients from UKBB (321 ARDS cases and 3249 at-risk controls)." . _:21322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 649; "SepNet patients (VISEP/MAXSEP, genetic consent) in the ARDS GWAS; ARDS cases and at-risk sepsis controls"; "PMID:41033104"; rdfs:comment "We included a total of 805 patients from the GEN-SEP cohort (304 ARDS cases and 501 at-risk controls), 740 patients from SepNet (91 ARDS cases and 649 at-risk controls), and 3570 patients from UKBB (321 ARDS cases and 3249 at-risk controls)." . _:21332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 740; "SepNet patients (VISEP/MAXSEP, genetic consent) in the ARDS GWAS; ARDS cases and at-risk sepsis controls"; "PMID:41033104"; rdfs:comment "We included a total of 805 patients from the GEN-SEP cohort (304 ARDS cases and 501 at-risk controls), 740 patients from SepNet (91 ARDS cases and 649 at-risk controls), and 3570 patients from UKBB (321 ARDS cases and 3249 at-risk controls)." . _:21342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SepNet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8939; "GCST90838706"; "A cohort of patients who met diagnostic criteria for amyotrophic lateral sclerosis (ALS) or had progressive muscular atrophy but then improved substantially and lastingly (the ALS Reversal phenotype), invited from the investigators' database of such patients compiled from published case reports and medical records. Participants, enrolled from June 2018 under a protocol approved by Duke University Health System, gave saliva for whole-genome sequencing to identify genetic correlates of the phenotype."; 23; "StAR2", "Study of ALS Reversals 2"; ; rdfs:label "Study of ALS Reversals 2: Genetic Analyses"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8939 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8939; "amyotrophic lateral sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11286288/fullTextXML"; rdfs:comment "All contactable patients with an ALS Reversal phenotype in our database were invited to participate in this genetic study named Study of ALS Reversals 2: Genetic Analyses (StAR2)." . _:21362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90838706"; "Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype."; "PMID:39079071", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11286288/fullTextXML"; rdfs:comment "All contactable patients with an ALS Reversal phenotype in our database were invited to participate in this genetic study named Study of ALS Reversals 2: Genetic Analyses (StAR2)." . _:21372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients who met diagnostic criteria for amyotrophic lateral sclerosis (ALS) or had progressive muscular atrophy but then improved substantially and lastingly (the ALS Reversal phenotype), invited from the investigators' database of such patients compiled from published case reports and medical records. Participants, enrolled from June 2018 under a protocol approved by Duke University Health System, gave saliva for whole-genome sequencing to identify genetic correlates of the phenotype."; "PMID:39079071"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23; "participants with documented ALS Reversal consented and enrolled"; "PMID:39079071"; rdfs:comment "A total of 23 participants with previously documented ALS Reversal were successfully consented and enrolled." . _:21392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "StAR2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8945; , ; "GCST90132189"; "A sub-cohort of the Danish Childhood Diabetes Register (DanDiabKids) made up of individuals newly diagnosed with type 1 diabetes, whose serum was sampled within three months of clinical onset and who had been genotyped on the ImmunoChip array."; 500; "Steno"; ; rdfs:label "Steno 2007"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8945 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:213a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8945; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9142038/fullTextXML"; rdfs:comment "The first sub-cohort, Steno 2007, consisted of 500 individuals with T1D, of which 77 were excluded due to insufficient material." . _:213b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9142038/fullTextXML"; rdfs:comment "A total of 569 newly diagnosed individuals with T1D were available from three sub-cohorts, all part of The Danish Childhood Diabetes Register (DanDiabKids), described elsewhere [26,27,28]." . _:213c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132189"; "Genetic Variants Associated with Neuropeptide Y Autoantibody Levels in Newly Diagnosed Individuals with Type 1 Diabetes."; "PMID:35627254", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9142038/fullTextXML"; rdfs:comment "The first sub-cohort, Steno 2007, consisted of 500 individuals with T1D, of which 77 were excluded due to insufficient material." . _:213d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-cohort of the Danish Childhood Diabetes Register (DanDiabKids) made up of individuals newly diagnosed with type 1 diabetes, whose serum was sampled within three months of clinical onset and who had been genotyped on the ImmunoChip array."; "PMID:35627254"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:213e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 500; "individuals with newly diagnosed type 1 diabetes in the sub-cohort"; "PMID:35627254"; rdfs:comment "The first sub-cohort, Steno 2007, consisted of 500 individuals with T1D, of which 77 were excluded due to insufficient material." . _:213f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Steno"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8952, _:genid-371333f489424440b12a13b9d98ced822608-genid8954, _:genid-371333f489424440b12a13b9d98ced822608-genid8956, _:genid-371333f489424440b12a13b9d98ced822608-genid8958, _:genid-371333f489424440b12a13b9d98ced822608-genid8960, _:genid-371333f489424440b12a13b9d98ced822608-genid8962; , ; "GCST90624054"; "A group of three randomised trials of supervised exercise training, STRRIDE I (1999–2003), STRRIDE AT/RT (2004–2008) and STRRIDE-PD (2009–2012), that enrolled previously sedentary adults with overweight or obesity and mild-to-moderate dyslipidaemia or prediabetes at Duke University Medical Center and East Carolina University, to study the effects of exercise amount, mode and intensity, and of weight loss by caloric restriction, on cardiometabolic health."; 947; "STRRIDE", "Studies of a targeted risk reduction intervention through defined exercise"; ; rdfs:label "Studies of a Targeted Risk Reduction Intervention through Defined Exercise"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8952 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8954 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8956 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8958 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8960 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid8962 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8952; "dyslipidemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10364164/fullTextXML"; rdfs:comment "STRRIDE I (1999–2003) and STRRIDE AT/RT (2004–2008) enrolled previously sedentary adults with overweight or obesity and mild-to-moderate dyslipidemia (classified by LDL-cholesterol 130–190 mg/dl or HDL-cholesterol ≤40 mg/dl for men and ≤45 mg/dl for women)." . _:21412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8954; "overweight"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10364164/fullTextXML"; rdfs:comment "STRRIDE I (1999–2003) and STRRIDE AT/RT (2004–2008) enrolled previously sedentary adults with overweight or obesity and mild-to-moderate dyslipidemia (classified by LDL-cholesterol 130–190 mg/dl or HDL-cholesterol ≤40 mg/dl for men and ≤45 mg/dl for women)." . _:21422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8956; "prediabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10364164/fullTextXML"; rdfs:comment "STRRIDE I (1999–2003) and STRRIDE AT/RT (2004–2008) enrolled previously sedentary adults with overweight or obesity and mild-to-moderate dyslipidemia (classified by LDL-cholesterol 130–190 mg/dl or HDL-cholesterol ≤40 mg/dl for men and ≤45 mg/dl for women)." . _:21432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8958; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10364164/fullTextXML"; rdfs:comment "STRRIDE I (1999–2003) and STRRIDE AT/RT (2004–2008) enrolled previously sedentary adults with overweight or obesity and mild-to-moderate dyslipidemia (classified by LDL-cholesterol 130–190 mg/dl or HDL-cholesterol ≤40 mg/dl for men and ≤45 mg/dl for women)." . _:21442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8960; "caloric restriction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37492634+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 947 adults with dyslipidemia (STRRIDE I, STRRIDE AT/RT) or prediabetes (STRRIDE-PD) were randomized to either inactive control or to 1 of 10 exercise interventions, ranging from doses of 8-23 kcal/kg/week, intensities of 50%-75% V˙O2 peak, and durations of 6-8 months." . _:21452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8962; "exercise interventions of differing amount, intensity and mode"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37492634+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 947 adults with dyslipidemia (STRRIDE I, STRRIDE AT/RT) or prediabetes (STRRIDE-PD) were randomized to either inactive control or to 1 of 10 exercise interventions, ranging from doses of 8-23 kcal/kg/week, intensities of 50%-75% V˙O2 peak, and durations of 6-8 months." . _:21462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10364164/fullTextXML"; rdfs:comment "Participants were enrolled at either Duke University Medical Center or East Carolina University (ECU)." . _:21472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624054"; "Genome-Wide Genetic Analysis of Dropout in a Controlled Exercise Intervention in Sedentary Adults With Overweight or Obesity and Cardiometabolic Disease."; "PMID:38489667", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11008589/fullTextXML"; rdfs:comment "Therefore, in this report, we undertook a genome-wide association study (GWAS) approach to identify other putative genetic variants associated with dropout from exercise training interventions among 603 individuals in the STRRIDE (Studies of a Targeted Risk Reduction Intervention through Defined Exercise) randomized trials." . _:21482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of three randomised trials of supervised exercise training, STRRIDE I (1999–2003), STRRIDE AT/RT (2004–2008) and STRRIDE-PD (2009–2012), that enrolled previously sedentary adults with overweight or obesity and mild-to-moderate dyslipidaemia or prediabetes at Duke University Medical Center and East Carolina University, to study the effects of exercise amount, mode and intensity, and of weight loss by caloric restriction, on cardiometabolic health."; "PMID:37492634"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 947; "adults randomised across STRRIDE I, STRRIDE AT/RT and STRRIDE-PD"; "PMID:37492634"; rdfs:comment "A total of 947 adults with dyslipidemia (STRRIDE I, STRRIDE AT/RT) or prediabetes (STRRIDE-PD) were randomized to either inactive control or to 1 of 10 exercise interventions, ranging from doses of 8–23 kcal/kg/week, intensities of 50%–75% V˙O2 peak, and durations of 6–8 months." . _:214a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STRRIDE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8969; , , ; ; "GCST90502911"; "A study of rare variants for hypertension in Taiwan Chinese that combines three cohorts based in Taiwan: families from the SAPPHIRe study, launched in 1995, with at least two hypertensive siblings, and unrelated participants from Tri-Service General Hospital and Taichung Veterans General Hospital matched to SAPPHIRe participants for age, sex and BMI category. All its participants were selected for whole-genome sequencing in the NHLBI TOPMed programme."; 2353; "THRV", "Taiwan Study of Hypertension using Rare Variants"; ; rdfs:label "Rare Variants for Hypertension in Taiwan Chinese"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8969 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:214b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8969; "hypertension"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001387/phs001387.v3.p1/GapExchange_phs001387.v3.p1.xml"; rdfs:comment "The SAPPHIRe families were recruited to have two or more hypertensive sibs, some families also with one normotensive/hypotensive sib." . _:214c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001387/phs001387.v3.p1/GapExchange_phs001387.v3.p1.xml"; rdfs:comment "The THRV-TOPMed study consists of three cohorts: The SAPPHIRe Family cohort (N=1,271), TSGH (Tri-Service General Hospital, a hospital-based cohort, N=160), and TCVGH (Taichung Veterans General Hospital, another hospital-based cohort, N=922), all based in Taiwan." . _:214d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Taiwan Study of Hypertension using Rare Variants (THRV) The Rare Variants for Hypertension in Taiwan Chinese (THRV) is supported by the National Heart, Lung, and Blood Institute (NHLBI) grant (R01HL111249) and its participation in TOPMed is supported by an NHLBI supplement (R01HL111249-04S1)." . _:214e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of rare variants for hypertension in Taiwan Chinese that combines three cohorts based in Taiwan: families from the SAPPHIRe study, launched in 1995, with at least two hypertensive siblings, and unrelated participants from Tri-Service General Hospital and Taichung Veterans General Hospital matched to SAPPHIRe participants for age, sex and BMI category. All its participants were selected for whole-genome sequencing in the NHLBI TOPMed programme."; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001387/phs001387.v3.p1/GapExchange_phs001387.v3.p1.xml"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:214f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2353; "THRV subjects selected for TOPMed whole-genome sequencing (all three cohorts)"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001387/phs001387.v3.p1/GapExchange_phs001387.v3.p1.xml"; rdfs:comment "All 2,353 THRV subjects were selected for whole genome sequencing through the NHLBI TOPMed WGS program." . _:21502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THRV"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , ; , , , , , , ; "GCST90833053"; "A programme of the National Heart, Lung, and Blood Institute (NHLBI) that adds whole-genome sequencing and other omics data to existing, deeply phenotyped studies of ethnically and ancestrally diverse participants, to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders and improve their diagnosis, treatment and prevention."; 53831; "NHLBI TOPMed", "NHLBI Trans-Omics for Precision Medicine", "NIH Trans-Omics for Precision Medicine", "TOPMed", "Trans-Omics for Precision Medicine", "Trans-Omics for Precision Medicine initiative", "Trans-Omics for Precision Medicine program", "Trans-Omics in Precision Medicine", "Trans-Omics in Precision Medicine Program"; ; rdfs:label "Trans-Omics for Precision Medicine Program"@en . _:21512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8531156/unicode"; rdfs:comment "WGS data for GACRS and CAMP were generated as part of the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) WGS Program." . _:21522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-58420-2/MediaObjects/41467_2025_58420_MOESM1_ESM.pdf"; rdfs:comment "NHLBI TOPMed: Genetics of Cardiometabolic Health in the Amish (Amish) The TOPMed component of the Amish Research Program was supported by NIH grants R01 HL121007, U01 HL072515, and R01 AG18728." . _:21532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9086181/unicode"; rdfs:comment "In this example, we leverage eQTL information from platelets (PLTs) and megakaryocytes (MKs) to identify novel loci associated with platelet aggregation phenotypes using Whole Genome Sequencing (WGS) data from EAs and AAs from the GeneSTAR family‐based study, generated as part of the NHLBI's Trans‐Omics for Precision Medicine (TOPMed) program." . _:21542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-58420-2/MediaObjects/41467_2025_58420_MOESM1_ESM.pdf"; rdfs:comment "NHLBI TOPMed: Hypertension Genetic Epidemiology Network (HyperGEN) The HyperGEN Study is part of the National Heart, Lung, and Blood Institute (NHLBI) Family Blood Pressure Program; collection of the data represented here was supported by grants U01 HL054472 (MN Lab), U01 HL054473 (DCC), U01 HL054495 (AL FC), and U01 HL054509 (NC FC)." . _:21552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001143.v4.p1"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:21562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Taiwan Study of Hypertension using Rare Variants (THRV) The Rare Variants for Hypertension in Taiwan Chinese (THRV) is supported by the National Heart, Lung, and Blood Institute (NHLBI) grant (R01HL111249) and its participation in TOPMed is supported by an NHLBI supplement (R01HL111249-04S1)." . _:21572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001726"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:21582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001062.v6.p2"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:21592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001189.v5.p1"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:215a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8665111/"; rdfs:comment "Genome Sequencing for “NHLBI TOPMed: Severe Asthma Research Program (SARP)” (phs001446.v1.p1) was performed at NYGC Genomics (HHSN268201500016C)." . _:215b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12888468/fullTextXML"; rdfs:comment "four COPD-enriched studies (the Genetic Epidemiology of COPD [COPDGene] [52], Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints [ECLIPSE] [53], Boston Early-Onset COPD Study [EOCOPD] [54] and Lung Tissue Research Consortium [LTRC] [55]) participating in the NHLBI Trans-Omics for Precision Medicine (TOPMed) program." . _:215c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000997.v1.p1"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:215d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001032.v7.p2"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:215e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11442686/fullTextXML"; rdfs:comment "samples from the Samoan Adiposity Study have been included in the Trans-Omics for Precision Medicine program (TOPMed)" . _:215f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000946.v1.p1"; rdfs:comment "This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:21602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001933.v2.p1"; rdfs:comment "dbGaP Study NHLBI TOPMed - NHGRI CCDG: UCSF Atrial Fibrillation Study dbGaP Study Accession: phs001933.v2.p1 Subject Sample Telemetry Report (SSTR) Study version history Study phs001933.v1.p1 phs001933.v2.p1 Study Phenotype Datasets Variables Molecular Datasets Analyses Documents Jump to: Authorized Access | Attribution | Authorized Requests Study Description Important Links and Information Request access via Authorized Access Instructions for requestors Data Use Certification (DUC) Agreement Talking Glossary of Genetic Terms This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program." . _:21612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30535219+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood.ObjectiveTo perform large-scale whole-genome sequencing to identify genetic variants related to AF.Design, setting, and participantsThe National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine Program includes longitudinal and cohort studies that underwent high-depth whole-genome sequencing between 2014 and 2017 in 18 526 individuals from the United States, Mexico, Puerto Rico, Costa Rica, Barbados, and Samoa." . _:21622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833053"; "Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis."; "PMID:41917433", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13083253/fullTextXML"; rdfs:comment "Control cohorts included 7,323 samples from the National Heart, Lung, and Blood Institute (NHLBI) TOPMed research program52, 49,981 samples from the UK Biobank44 and 18,232 samples across seven cohorts from dbGAP53." . _:21632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A programme of the National Heart, Lung, and Blood Institute (NHLBI) that adds whole-genome sequencing and other omics data to existing, deeply phenotyped studies of ethnically and ancestrally diverse participants, to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders and improve their diagnosis, treatment and prevention."; "PMID:33568819"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 53831; "participants whose genomes were sequenced in the flagship freeze 5 analysis"; "PMID:33568819"; rdfs:comment "Among all variant alleles, 46.0% were singletons, observed once across all 53,831 participants." . _:21652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHLBI TOPMed"; . _:21662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOPMed"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid8998; , ; ; "GCST001595"; "A population-based study sampled from the Northern Sweden Health and Disease Study cohort in the county of Västerbotten, Sweden, whose hip and forearm fracture cases, identified by linking the cohort with medical records and radiographic reports, are compared with controls from the same cohort to identify the genetic and environmental determinants of osteoporotic fractures."; 5000; 5000; "UFO", "Umeå Fracture and Osteoporosis (UFO) study", "Umeå Fracture and Osteoporosis study"; ; rdfs:label "Umeå Fracture and Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid8998 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid8998; "osteoporotic fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Umeå Fracture and Osteoporosis (UFO) study is a nested case-cohort, population-based study from Sweden designed to identify the genetic and gene-by-environmental determinants of osteoporotic fracture." . _:21682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Umeå Fracture and Osteoporosis (UFO) study is a nested case-cohort, population-based study from Sweden designed to identify the genetic and gene-by-environmental determinants of osteoporotic fracture." . _:21692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10583993/fullTextXML"; rdfs:comment "The Umeå Fracture and Osteoporosis (UFO) study is a population-based, nested case–control study sampled from the Northern Sweden Health and Disease study cohort that started in 1985 and now consists of blood samples, and lifestyle and dietary data from around 135 000 unique subjects from the county of Västerbotten." . _:216a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001595"; "WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk."; "PMID:22792071", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Umeå Fracture and Osteoporosis (UFO) study is a nested case-cohort, population-based study from Sweden designed to identify the genetic and gene-by-environmental determinants of osteoporotic fracture." . _:216b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study sampled from the Northern Sweden Health and Disease Study cohort in the county of Västerbotten, Sweden, whose hip and forearm fracture cases, identified by linking the cohort with medical records and radiographic reports, are compared with controls from the same cohort to identify the genetic and environmental determinants of osteoporotic fractures."; "PMID:32067027"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:216c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5000; "fracture cases and controls in the UFO-hip and UFO-forearm GWAS subcohorts (approximate), 2020"; "PMID:32067027"; rdfs:comment "The UFO-hip and UFO-forearm GWAS fracture cohorts (recruited in 2008) are subcohorts of the UFO cohort, currently including approximately 5000 fracture cases and approximately 5000 controls (30)." . _:216d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5000; "fracture cases and controls in the UFO-hip and UFO-forearm GWAS subcohorts (approximate), 2020"; "PMID:32067027"; rdfs:comment "The UFO-hip and UFO-forearm GWAS fracture cohorts (recruited in 2008) are subcohorts of the UFO cohort, currently including approximately 5000 fracture cases and approximately 5000 controls (30)." . _:216e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UFO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9007; , , ; "GCST90897930"; "A randomised, double-blind, placebo-controlled trial, conducted in 1992–1995 at 21 sickle cell referral centres in the United States and Canada, of whether hydroxyurea reduces vaso-occlusive events in adults with sickle cell anaemia and frequent painful episodes, whose participants were then followed observationally in 1996–2001."; "The acronym MSH also denotes BioMe Biobank (COHO:0000424) and Mount Sinai Hospital-Princess Margaret Multicancer Study (COHO:0002267); this term is Multicenter Study of Hydroxyurea in Sickle Cell Anemia."@en; 299; "MSH", "MSH_CSA", "Multicenter Study of Hydroxyurea", "Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia"; ; rdfs:label "Multicenter Study of Hydroxyurea in Sickle Cell Anemia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9007 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:216f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9007; "sickle cell anemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12672732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Long-term observational follow-up study of mortality in patients with SCA who originally participated in the randomized, double-blind, placebo-controlled Multicenter Study of Hydroxyurea in Sickle Cell Anemia (MSH), conducted in 1992-1995, to determine if hydroxyurea reduces vaso-occlusive events." . _:21702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12672732%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Inpatients and outpatients in 21 sickle cell referral centers in the United States and Canada." . _:21712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "The cohorts included: Cooperative Study of Sickle Cell Disease (CSSCD: n = 841), Multicenter Study of Hydroxyurea (MSH: n = 178), Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study (n = 73), Comprehensive Sickle Cell Centers Collaborative Data (C-data) project (n = 127), Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment (Walk-PHaSST) trial (n = 181), Duke University Outcome Modifying Genes study (n = 152), and Silent Infarct Transfusion (SIT) trial (SITT: n = 488)." . _:21722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled trial, conducted in 1992–1995 at 21 sickle cell referral centres in the United States and Canada, of whether hydroxyurea reduces vaso-occlusive events in adults with sickle cell anaemia and frequent painful episodes, whose participants were then followed observationally in 1996–2001."; "PMID:12672732"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 299; "patients randomised in the trial (1992-1995)"; "PMID:12672732"; rdfs:comment "Seventy-five of the original 299 patients died, 28% from pulmonary disease." . _:21742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH"; . _:21752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH_CSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9015; , , , , , , , ; ; "GCST90013831"; "A subgroup of the PanCareLIFE ototoxicity genetics study made up of patients diagnosed with cancer before age 18 who were treated with upfront cisplatin and had no radiotherapy to the brain or inner ear, recruited in 2015–2017 through data providers in Switzerland, Italy, the Czech Republic, Denmark, Germany, Austria and the Netherlands for a genome-wide association study of cisplatin-induced hearing loss."; 598; "PCL WP4b", "WP4b"; ; rdfs:label "PanCareLIFE Work Package 4b"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9015 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9015; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6444213/fullTextXML"; rdfs:comment "Within this large cohort we defined a group of 598 cisplatin-treated childhood cancer patients not confounded by cranial radiotherapy." . _:21772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6444213/fullTextXML"; rdfs:comment "Study participants were recruited through a network of 14 institutions from 7 countries: Switzerland, Italy, Czech Republic, Denmark, Germany, Austria, and the Netherlands." . _:21782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013831"; "TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study."; "PMID:34262104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8280110/fullTextXML"; rdfs:comment "The discovery cohort (PCL discovery cohort, D) consists of childhood cancer patients from the PCL consortium, a multicenter cohort of childhood cancer patients and survivors across Europe designed to address ototoxicity, fertility impairment, and quality of life." . _:21792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A subgroup of the PanCareLIFE ototoxicity genetics study made up of patients diagnosed with cancer before age 18 who were treated with upfront cisplatin and had no radiotherapy to the brain or inner ear, recruited in 2015–2017 through data providers in Switzerland, Italy, the Czech Republic, Denmark, Germany, Austria and the Netherlands for a genome-wide association study of cisplatin-induced hearing loss."; "PMID:30888333"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:217a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 598; "cisplatin-treated patients without cranial radiotherapy enrolled in WP4b"; "PMID:30888333"; rdfs:comment "Compared to WP5, WP4b investigated a more restricted study population of 598 patients." . _:217b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCL WP4b"; . _:217c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WP4b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9023; , ; , ; "GCST90244101"; "A consortium of nine epidemiological studies of breast cancer in the United States, mostly population-based case-control studies, whose African American cases and controls were genotyped together for a genome-wide association study of breast cancer in women of African ancestry."; 3153; 2831; 5984; "AABC", "African American Breast Cancer Cohort", "African American Breast Cancer GWAS", "African American Breast Cancer consortium"; ; rdfs:label "African American Breast Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9023 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:217d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9023; "breast cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3749077/unicode"; rdfs:comment "A strength of the present study is that it includes most existing case-control studies of breast cancer conducted in women of African ancestry." . _:217e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5445618/"; rdfs:comment "Although WCHS and CBCS participated in AABC, samples from those studies were included as part of the AMBER consortium described above." . _:217f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5445618/fullTextXML"; rdfs:comment "AABC includes cases and controls from the following epidemiologic studies: The Multiethnic Cohort study, 734/1003; The Los Angeles component of The Women’s Contraceptive and Reproductive Experiences (CARE) Study, 380/224; The San Francisco Bay Area Breast Cancer Study, 172/23; The Northern California site of the Breast Cancer Family Registry, 440/53; The Nashville Breast Health Study, 310/186; and The Wake Forest University Breast Cancer Study, 125/153)." . _:21802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244101"; "Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach."; "PMID:35554533", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9476624/"; rdfs:comment "We used data in women of AA from four breast cancer GWAS consortia and the Ghana Breast Health Study (GBHS); the four consortia were: ROOT (The GWAS of Breast Cancer in the African Diaspora consortium), the African American Breast Cancer Epidemiology and Risk (AMBER) consortium, Breast Cancer Association Consortium (BCAC) and African American Breast Cancer consortium (AABC)" . _:21812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of nine epidemiological studies of breast cancer in the United States, mostly population-based case-control studies, whose African American cases and controls were genotyped together for a genome-wide association study of breast cancer in women of African ancestry."; "PMID:21852243", "PMID:22923054"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3153; "cases and controls sampled from the nine member studies for the GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3749077/unicode"; rdfs:comment "Of the 5,984 samples from these studies (3,153 cases and 2,831 controls), we attempted genotyping of 5,932, removing samples (n = 52) with DNA concentrations < 20 ng/ul." . _:21832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2831; "cases and controls sampled from the nine member studies for the GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3749077/unicode"; rdfs:comment "Of the 5,984 samples from these studies (3,153 cases and 2,831 controls), we attempted genotyping of 5,932, removing samples (n = 52) with DNA concentrations < 20 ng/ul." . _:21842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5984; "cases and controls sampled from the nine member studies for the GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3749077/unicode"; rdfs:comment "Of the 5,984 samples from these studies (3,153 cases and 2,831 controls), we attempted genotyping of 5,932, removing samples (n = 52) with DNA concentrations < 20 ng/ul." . _:21852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AABC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9033; , ; ; "GCST90244653"; "A study at Wake Forest School of Medicine that, after the family-based Diabetes Heart Study and in parallel with it, enrolled unrelated African Americans with type 2 diabetes under the same inclusion criteria and analyses them together with that study's African American participants, to investigate ethnic differences in and inherited contributions to calcified atherosclerotic plaque and related traits such as bone density, vitamin D and, in its MIND extension, brain structure and cognition."; 717; "AA-DHS", "African American DHS", "African American-DHS", "African American-diabetes heart study"; ; rdfs:label "African American-Diabetes Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9033 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9033; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8136717/fullTextXML"; rdfs:comment "To identify genetic factors contributing to vitamin D and BMD measures, association analysis of >14M variants was conducted in a maximum of 697 African American-Diabetes Heart Study participants with type 2 diabetes (T2D)." . _:21872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3061609/"; rdfs:comment "DHS comprises a series of studies to analyze vascular diabetic complications. Data collection in DHS-Bone and DHS-Fat are completed. DHS-GWAS, DHS-Mind, and African American DHS are currently ongoing." . _:21882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244653"; "Whole genome sequence analysis of blood lipid levels in >66,000 individuals."; "PMID:36220816", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9553944/supplementaryFiles"; rdfs:comment "Diabetes Heart Study (DHS, n=365): TOPMed dbGaP accession#: phs001412, Parent dbGaP accession#: phs001012, Sequencing Center: Broad Institute of MIT and Harvard" . _:21892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study at Wake Forest School of Medicine that, after the family-based Diabetes Heart Study and in parallel with it, enrolled unrelated African Americans with type 2 diabetes under the same inclusion criteria and analyses them together with that study's African American participants, to investigate ethnic differences in and inherited contributions to calcified atherosclerotic plaque and related traits such as bone density, vitamin D and, in its MIND extension, brain structure and cognition."; "PMID:19825824", "PMID:21409311", "PMID:34014961"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:218a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 717; "participants analysed with CT calcified plaque measures (analysed subset)"; "PMID:25054777"; rdfs:comment "To determine this, 717 African American-Diabetes Heart Study participants underwent computed tomography to determine coronary artery-, carotid artery-, and aorta-calcified atherosclerotic plaque mass scores in addition to the urine albumin:creatinine ratio (UACR), eGFR, and C-reactive protein (CRP)." . _:218b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AA-DHS"; . a owl:NamedIndividual, ; , , ; ; "GCST90002231"; "A cohort of middle-aged and older residents of Ehime Prefecture, Japan, who since 2006 have attended the health check-up programme of the Anti-aging Center at Ehime University Hospital, designed to evaluate ageing-related disorders such as atherosclerosis, cardiovascular disease, physical function and mild cognitive impairment, and who are followed in the Japan Shimanami Health Promoting Program (J-SHIPP), a longitudinal study of factors related to cardiovascular disease, dementia and death."; 2244; "AASC", "Anti-aging study cohort", "anti-aging study cohort"; ; rdfs:label "Anti-Aging Study Cohort"@en . _:218c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5566649/fullTextXML"; rdfs:comment "This medical check‐up is provided to general residents of Ehime Prefecture, Japan, and is specifically designed to evaluate ageing‐related disorders, including atherosclerosis, cardiovascular disease, physical function, and mild cognitive impairment." . _:218d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002231"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Anti-Aging Study Cohort (AASC)" . _:218e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of middle-aged and older residents of Ehime Prefecture, Japan, who since 2006 have attended the health check-up programme of the Anti-aging Center at Ehime University Hospital, designed to evaluate ageing-related disorders such as atherosclerosis, cardiovascular disease, physical function and mild cognitive impairment, and who are followed in the Japan Shimanami Health Promoting Program (J-SHIPP), a longitudinal study of factors related to cardiovascular disease, dementia and death."; "PMID:28371474", "PMID:28406166", "PMID:29491417", "PMID:38280978"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:218f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2244; "community residents who attended the Anti-aging Center health check-up, Feb 2006 to Mar 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10821963/fullTextXML"; rdfs:comment "Of the 2244 community residents who participated in the health check-up program between February 2006 and March 2023, mid-thigh computed tomography images and postural instability measurements were obtained for 1983." . _:21902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AASC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9045, _:genid-371333f489424440b12a13b9d98ced822608-genid9047, _:genid-371333f489424440b12a13b9d98ced822608-genid9049, _:genid-371333f489424440b12a13b9d98ced822608-genid9051; , ; ; "GCST90841377"; "A multi-site extension of the Alzheimer's Disease Neuroimaging Initiative, funded by the US Department of Defense, that enrolled Vietnam War veterans with a history of traumatic brain injury and/or ongoing post-traumatic stress disorder, with or without mild cognitive impairment, and veteran controls without either, identified mainly through Veterans Affairs records, and studies them with ADNI's clinical, cognitive, imaging and fluid biomarker methods to find whether these conditions contribute to the development of Alzheimer's disease."; 289; "ADNI Department of Defense studies", "ADNI-DOD", "ADNIDOD", "DOD ADNI", "DOD-ADNI", "DoD-ADNI"; ; rdfs:label "Department of Defense Alzheimer's Disease Neuroimaging Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9045 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9047 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9049 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9051 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9045; "military service in the Vietnam War"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5526098/fullTextXML"; rdfs:comment "These studies are collectively termed “DOD ADNI,” and aim to enroll approximately 400 elderly Veterans who served in Vietnam." . _:21922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9047; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28758146+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We are using biomarkers to study Vietnam Veterans with/without mild cognitive impairment with a history of at least one TBI and/or ongoing PTSD to determine whether these contribute to the development of AD." . _:21932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9049; "posttraumatic stress disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28758146+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We are using biomarkers to study Vietnam Veterans with/without mild cognitive impairment with a history of at least one TBI and/or ongoing PTSD to determine whether these contribute to the development of AD." . _:21942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9051; "traumatic brain injury"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28758146+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We are using biomarkers to study Vietnam Veterans with/without mild cognitive impairment with a history of at least one TBI and/or ongoing PTSD to determine whether these contribute to the development of AD." . _:21952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13291382/fullTextXML"; rdfs:comment "This study examined how traumatic brain injury and post-traumatic stress disorder relate to cognitive function and neuroimaging markers in U.S. veterans from the Department of Defense Alzheimer's Disease Neuroimaging Initiative (ADNI-DOD)." . _:21962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13311454/fullTextXML"; rdfs:comment "The DoD-ADNI is a multi-site extension of ADNI designed to investigate the effects of TBI and PTSD on AD-related pathology in Vietnam-era Veterans (Weiner et al., 2014, 2017)." . _:21972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841377"; "Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease."; "PMID:37101235", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134547/fullTextXML"; rdfs:comment "These subjects were recruited from the Memory and Aging Project (MAP) at the Knight Alzheimer Disease Research Center (Knight-ADRC) [16, 17], Alzheimer's Disease Neuroimaging Initiative (ADNI) [18], the Dominantly Inherited Alzheimer Network (DIAN) [19], Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease (A4) [20], ADNI Department of Defense (ADNIDOD) studies, Australian Imaging, Biomarkers and Lifestyle (AIBL) [21], The Harvard Aging Brain Study (HABS) [22], and University of Pittsburgh (UPitt) [23]." . _:21982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site extension of the Alzheimer's Disease Neuroimaging Initiative, funded by the US Department of Defense, that enrolled Vietnam War veterans with a history of traumatic brain injury and/or ongoing post-traumatic stress disorder, with or without mild cognitive impairment, and veteran controls without either, identified mainly through Veterans Affairs records, and studies them with ADNI's clinical, cognitive, imaging and fluid biomarker methods to find whether these conditions contribute to the development of Alzheimer's disease."; "PMID:28758146", "PMID:42316769"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 289; "non-demented veterans with baseline neuropsychological testing"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13311454/fullTextXML"; rdfs:comment "Briefly, participant flow proceeded from the full non-demented DoD-ADNI cohort with baseline neuropsychological testing (n = 289) to the analytic WMH sample (n = 228) and the FreeSurfer subset (n = 183), with participants excluded for incomplete neuropsychological data (n = 5), incomplete/inconclusive TBI/PTSD screening data (n = 17), missing WMH data (n = 39), missing T1 data (n = 11), and FreeSurfer QC failures (n = 34)." . _:219a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADNI-DOD"; . _:219b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADNIDOD"; . _:219c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOD ADNI"; . _:219d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOD-ADNI"; . _:219e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DoD-ADNI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9063; , , , , , , , ; "GCST90267548"; "An international collaboration, sponsored by the Klarman Family Foundation and the US National Institute of Mental Health, that recruited individuals with a lifetime history of anorexia nervosa and controls in the United States, Australia, New Zealand, Sweden and Denmark, through treatment centres, national registers and traditional and social media, with blood samples and an online eating-disorder questionnaire, to rapidly expand the samples available for genome-wide association studies of anorexia nervosa."; 13364; "ANGI"; ; rdfs:label "Anorexia Nervosa Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9063 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:219f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9063; "anorexia nervosa"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30287268+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe methods and procedures for the Anorexia Nervosa Genetics Initiative (ANGI), an international collaboration designed to rapidly recruit 13,000 individuals with AN and ancestrally matched controls." . _:21a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30287268+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ANGI recruited from the United States (US), Australia/New Zealand (ANZ), Sweden (SE), and Denmark (DK)." . _:21a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267548"; "Genome-wide association study of school grades identifies genetic overlap between language ability, psychopathology and creativity."; "PMID:36624241", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9829693/fullTextXML"; rdfs:comment "ANGI is an international collaboration established between scientists in the United States, Australia/New Zealand, Sweden and Denmark to establish a cohort of individuals with and without AN." . _:21a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaboration, sponsored by the Klarman Family Foundation and the US National Institute of Mental Health, that recruited individuals with a lifetime history of anorexia nervosa and controls in the United States, Australia, New Zealand, Sweden and Denmark, through treatment centres, national registers and traditional and social media, with blood samples and an online eating-disorder questionnaire, to rapidly expand the samples available for genome-wide association studies of anorexia nervosa."; "PMID:30287268"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13364; "individuals with lifetime AN and controls with blood samples and clinical information"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6338222/unicode"; rdfs:comment "Blood samples and clinical information were collected from 13,364 individuals with lifetime AN and from controls." . _:21a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9070, _:genid-371333f489424440b12a13b9d98ced822608-genid9072, _:genid-371333f489424440b12a13b9d98ced822608-genid9074; , ; "GCST90297564"; "An unselected birth cohort of children born in 1992–1993 in Ashford, Kent, England, whose mothers were recruited in pregnancy from 1991 as the UK cohort of the Asthma Multicentre Infant Cohort Study, with house-dust allergen measured in infancy and follow-up by questionnaire, lung function and skin prick tests to age 14 years and a questionnaire at about age 20, to study how early-life allergen exposure and other factors relate to the development of atopy, wheeze and asthma."; 642; "ASHFORD", "Ashford", "Ashford cohort", "Asthma in Ashford", "Asthma in Ashford study"; ; rdfs:label "Ashford study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9070 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9072 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9074 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9070; "domestic aeroallergen exposure in infancy (house dust mite Der p 1 and cat Fel d 1)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10232430+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multicentre, prospective cohort study of childhood asthma was established in three European countries; the purpose of the project is the examination of factors which modify the relationship between allergen exposure in infant life and subsequent atopy and asthma." . _:21a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9072; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10232430+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multicentre, prospective cohort study of childhood asthma was established in three European countries; the purpose of the project is the examination of factors which modify the relationship between allergen exposure in infant life and subsequent atopy and asthma." . _:21a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9074; "atopy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10232430+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multicentre, prospective cohort study of childhood asthma was established in three European countries; the purpose of the project is the examination of factors which modify the relationship between allergen exposure in infant life and subsequent atopy and asthma." . _:21a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "The Ashford study is an unselected birth cohort study established in 1991 in Ashford, UK (Atkinson et al., 1999)." . _:21a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90297564"; "A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifies ANXA1 as a susceptibility locus for persistent wheezing."; "PMID:37227431", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "The Ashford study is an unselected birth cohort study established in 1991 in Ashford, UK (Atkinson et al., 1999)." . _:21aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An unselected birth cohort of children born in 1992–1993 in Ashford, Kent, England, whose mothers were recruited in pregnancy from 1991 as the UK cohort of the Asthma Multicentre Infant Cohort Study, with house-dust allergen measured in infancy and follow-up by questionnaire, lung function and skin prick tests to age 14 years and a questionnaire at about age 20, to study how early-life allergen exposure and other factors relate to the development of atopy, wheeze and asthma."; "PMID:10232430", "PMID:15454651", "PMID:16950296", "PMID:37227431"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 642; "babies born to the 625 recruited women"; "https://europepmc.org/api/getPdf?pmcid=PMC1746847"; rdfs:comment "Of 710 whom we invited to take part in a longitudinal study of childhood asthma, 658 (93%) agreed and subse- quently 625 women gave birth to 642 babies." . _:21ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASHFORD"; . _:21ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ashford"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9082; , ; "GCST90726618"; "A prospective multicentre cohort of clinically stable adult outpatients with chronic heart failure, enrolled from 2011 at Erasmus MC, Rotterdam, and Northwest Clinics, Alkmaar, the Netherlands, and seen every three months for blood sampling and clinical assessment, with echocardiography in a subset, to assess whether serial measurements of biomarkers can track disease progression and predict prognosis in individual patients."; 398; "Bio-SHIFT", "Bio-SHiFT", "Serial Biomarker Measurements and New Echocardiographic Techniques in chronic Heart Failure Patients Result in Tailored Prediction of Prognosis"; ; rdfs:label "Serial Biomarker Measurements and New Echocardiographic Techniques in Chronic Heart Failure Patients Result in Tailored Prediction of Prognosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9082 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9082; "chronic heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "Bio-SHiFT (Serial Biomarker Measurements and New Echocardiographic Techniques in chronic Heart Failure Patients Result in Tailored Prediction of Prognosis) is a prospective, observational study of stable patients with chronic heart failure (CHF)." . _:21af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "The study was conducted in Erasmus MC, Rotterdam, the Netherlands, and Noordwest Ziekenhuisgroep, Alkmaar, the Netherlands." . _:21b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726618"; "Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes."; "PMID:40038546", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "Bio-SHiFT (Serial Biomarker Measurements and New Echocardiographic Techniques in chronic Heart Failure Patients Result in Tailored Prediction of Prognosis) is a prospective, observational study of stable patients with chronic heart failure (CHF)." . _:21b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre cohort of clinically stable adult outpatients with chronic heart failure, enrolled from 2011 at Erasmus MC, Rotterdam, and Northwest Clinics, Alkmaar, the Netherlands, and seen every three months for blood sampling and clinical assessment, with echocardiography in a subset, to assess whether serial measurements of biomarkers can track disease progression and predict prognosis in individual patients."; "PMID:30760105", "https://clinicaltrials.gov/api/v2/studies/NCT01851538?fields=protocolSection.identificationModule,protocolSection.statusModule,protocolSection.descriptionModule,protocolSection.designModule,protocolSection.contactsLocationsModule"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 398; "patients enrolled (actual enrolment in the trial registry), 2020"; "https://clinicaltrials.gov/api/v2/studies/NCT01851538?fields=protocolSection.designModule.enrollmentInfo,protocolSection.statusModule"; rdfs:comment "\"enrollmentInfo\":{\"count\":398,\"type\":\"ACTUAL\"}" . _:21b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bio-SHIFT"; . _:21b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bio-SHiFT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9090; , ; ; "GCST90454540"; "A study run by the Institute of Human Genetics, University of Bonn, Germany, that continuously recruits adults with SARS-CoV-2 infection confirmed by PCR or antibody testing from the general population through public announcements, collecting questionnaires on demographics, pre-existing conditions and the course of infection (and, from September 2021, on long COVID) and DNA for genotyping, to study host genetic factors in COVID-19."; "BoSCO", "Bonn Study of COVID19 genetics", "Bonn study of COVID genetics"; ; rdfs:label "Bonn Study of COVID Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9090 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9090; "COVID-19" . _:21b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "Bonn Study of COVID Genetics Germany The BoSCO study continuously recruits individuals from the general population through public announcements." . _:21b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "For the initial discovery analysis, we used data from the following 24 studies: Avon Longitudinal Study of Parents and Children (ALSPAC), Bonn Study of COVID Genetics (BoSCO), Banque québécoise de la COVID-19 (BQC19), Danish Blood Donor Study (DBDS), Extended Cohort for E-health, Environment and DNA (EXCEED), FinnGen, GCAT | Genomes for life, Genetic Bases of COVID-19 Clinical Variability (GEN-COVID), Genotek, Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19" . _:21b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study run by the Institute of Human Genetics, University of Bonn, Germany, that continuously recruits adults with SARS-CoV-2 infection confirmed by PCR or antibody testing from the general population through public announcements, collecting questionnaires on demographics, pre-existing conditions and the course of infection (and, from September 2021, on long COVID) and DNA for genotyping, to study host genetic factors in COVID-19."; "PMID:40399555"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BoSCO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9096; , ; , ; "GCST90454540"; "A province-wide biobank and prospective cohort in Québec, Canada, launched in March 2020 by the Fonds de recherche du Québec–Santé and Génome Québec, which recruits through a network of Québec hospitals adults and children with PCR-confirmed SARS-CoV-2 infection, both hospitalised and non-hospitalised, and PCR-negative controls, with longitudinal biosamples and clinical data, to study the clinical and biological determinants of COVID-19 clinical trajectories."; 2300; "BCQ19", "BQC-19", "BQC19", "Banque Québécoise de la COVID-19", "Banque québécoise de la COVID-19", "Biobanque Quebec COVID19", "Biobanque Québécoise de la COVID-19", "Biobanque Québécoise de la Covid-19", "COVID-19 Québec Biobank", "Quebec COVID-19 Biobank", "biobanque québécoise de la COVID-19"; ; rdfs:label "Biobanque québécoise de la COVID-19"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9096 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9096; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34010280+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "As a disease-oriented biobank based on high-quality biosamples and clinical data of hospitalized and non-hospitalized SARS-CoV-2 PCR positive and negative individuals." . _:21bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "Participants were recruited from eight academic hospitals in the province of Quebec, Canada." . _:21bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "For the initial discovery analysis, we used data from the following 24 studies: Avon Longitudinal Study of Parents and Children (ALSPAC), Bonn Study of COVID Genetics (BoSCO), Banque québécoise de la COVID-19 (BQC19), Danish Blood Donor Study (DBDS), Extended Cohort for E-health, Environment and DNA (EXCEED), FinnGen, GCAT | Genomes for life, Genetic Bases of COVID-19 Clinical Variability (GEN-COVID), Genotek, Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19" . _:21bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A province-wide biobank and prospective cohort in Québec, Canada, launched in March 2020 by the Fonds de recherche du Québec–Santé and Génome Québec, which recruits through a network of Québec hospitals adults and children with PCR-confirmed SARS-CoV-2 infection, both hospitalised and non-hospitalised, and PCR-negative controls, with longitudinal biosamples and clinical data, to study the clinical and biological determinants of COVID-19 clinical trajectories."; "PMID:34010280"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2300; "enrolled participants with quality-controlled data, April 2020 to March 2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8133500/fullTextXML"; rdfs:comment "However, quality controlled data is currently available for a total of 2,300 enrolled participants (2,256 adults and 44 children recruited between April 2020 and March 2021)." . _:21bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCQ19"; . _:21c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BQC-19"; . _:21c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BQC19"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9105; , , ; , ; "GCST90258648"; "A multicentre, randomized, double-masked clinical trial of long-term inhaled treatment for mild to moderate asthma (budesonide, nedocromil or placebo, each with albuterol as needed) in children aged 5–12 years, who were enrolled in 1993–1995 at eight clinical centres in the United States and Canada and followed after the trial into adulthood, with a genetic ancillary study of the children and their parents."; "The acronym CAMP also denotes MGH Cardiology and Metabolic Patient Cohort (COHO:0002061); this term is Childhood Asthma Management Program."@en; 1041; "CAMP"; ; rdfs:label "Childhood Asthma Management Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9105 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9105; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8255344/fullTextXML"; rdfs:comment "The CAMP was a randomized, placebo-controlled, four-year trial of inhaled anti-inflammatory therapy for mild-to-moderate persistent childhood asthma." . _:21c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8255344/fullTextXML"; rdfs:comment "Subjects were recruited from 8 different North American cities: Albuquerque, Baltimore, Boston, Denver, San Diego, Seattle, St. Louis, and Toronto." . _:21c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90258648"; "Zinc finger protein 33B demonstrates sex interaction with atopy-related markers in childhood asthma."; "PMID:35953101", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35953101+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide gene-by-sex interaction analysis for atopy-related markers using whole-genome sequencing data based on 889 trios from the Genetic Epidemiology of Asthma in Costa Rica Study (GACRS) and 284 trios from the Childhood Asthma Management Program (CAMP)." . _:21c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomized, double-masked clinical trial of long-term inhaled treatment for mild to moderate asthma (budesonide, nedocromil or placebo, each with albuterol as needed) in children aged 5–12 years, who were enrolled in 1993–1995 at eight clinical centres in the United States and Canada and followed after the trial into adulthood, with a genetic ancillary study of the children and their parents."; "PMID:10027502", "PMID:34212545", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001726"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1041; "children aged 5-12 enrolled in the trial, 1993-1995"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8255344/fullTextXML"; rdfs:comment "A total of 1,041 participants were enrolled in the trial between 1993 and 1995 at age 5–12 years; follow-up continued to 2012 when participants were aged 22–30 years." . _:21c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMP"; . a owl:NamedIndividual, ; "PMID:21738479"; "A network of cohorts of African ancestry and of other populations under-represented in genome-wide association studies, whose consortia meta-analyse the cohorts' genome-wide data to find genetic variants for complex traits, such as white blood cell count, blood pressure and hypertension in African-ancestry cohorts (COGENT-BP) and kidney traits across diverse ancestries (COGENT-Kidney, established in 2014)."; 16388; "COGENT", "COGENT Network"; rdfs:label "Continental Origins and Genetic Epidemiology Network"@en . _:21c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21738479"; "Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT)."; "PMID:21738479", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3128101/fullTextXML"; rdfs:comment "The subjects participating in the GWAS consisted of a total of 16,388 self-identified African-American individuals from 7 population-based cohorts (ARIC, CARDIA, JHS, WHI, HANDLS, Health ABC, and GeneSTAR) that belong to the Continental Origins and Genetic Epidemiology Network (COGENT)." . _:21c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A network of cohorts of African ancestry and of other populations under-represented in genome-wide association studies, whose consortia meta-analyse the cohorts' genome-wide data to find genetic variants for complex traits, such as white blood cell count, blood pressure and hypertension in African-ancestry cohorts (COGENT-BP) and kidney traits across diverse ancestries (COGENT-Kidney, established in 2014)."; "PMID:21738479", "PMID:32571486"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16388; "African-American participants from 7 cohorts in the 2011 WBC count GWAS"; "PMID:21738479"; rdfs:comment "In order to address this, we performed a large genome-wide association study (GWAS) of total WBC and cell subtype counts in 16,388 African-American participants from 7 population-based cohorts available in the Continental Origins and Genetic Epidemiology Network." . _:21cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGENT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9116; , ; , ; "GCST90103973"; "The cohort studies of the Center for Oral Health Research in Appalachia, established in 2000 by the University of Pittsburgh in partnership with West Virginia University to find the factors behind poor oral health in northern Appalachia. They are a family-based etiology study (COHRA1), which recruited households in West Virginia and western Pennsylvania, and a longitudinal cohort (COHRA2), which since 2011 has recruited pregnant women in Pennsylvania and West Virginia and followed them and their children."; "COHRA"; ; rdfs:label "Center for Oral Health Research in Appalachia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9116 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9116; "oral diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2443132/fullTextXML"; rdfs:comment "An initial aim of COHRA is to determine the contributions of individual, family, and community factors to oral diseases in Appalachian children." . _:21cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8297786/fullTextXML"; rdfs:comment "For the current study, data from COHRA1 (a cohort of the Center for Oral Health Research in Appalachia) was analyzed." . _:21ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4451284/fullTextXML"; rdfs:comment "The Center for Oral Health Research in Appalachia (COHRA) has been enrolling pregnant women and their babies since 2011 in the COHRA2 study of genetic, microbial, and environmental factors involved in oral health in Northern Appalachia." . _:21cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "Our second cohort (n = 1,837) comes from the Center for Oral Health Research in Appalachia (COHRA), which was designed to address oral health disparities in the Appalachian region in the USA." . _:21d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103973"; "Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts."; "PMID:35172313", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "Our second cohort (n = 1,837) comes from the Center for Oral Health Research in Appalachia (COHRA), which was designed to address oral health disparities in the Appalachian region in the USA." . _:21d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The cohort studies of the Center for Oral Health Research in Appalachia, established in 2000 by the University of Pittsburgh in partnership with West Virginia University to find the factors behind poor oral health in northern Appalachia. They are a family-based etiology study (COHRA1), which recruited households in West Virginia and western Pennsylvania, and a longitudinal cohort (COHRA2), which since 2011 has recruited pregnant women in Pennsylvania and West Virginia and followed them and their children."; "PMID:18522740", "PMID:35172313", "PMID:36981009"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHRA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9124; , , ; , ; "GCST90132184"; "A genome-wide association study of type 2 diabetes and related quantitative traits by the Broad Institute of Harvard and MIT, Lund University and the Novartis Institutes for BioMedical Research. Its participants were patients with type 2 diabetes and matched non-diabetic controls from Finland and Sweden, genotyped and characterised for glucose metabolism, lipids, obesity and blood pressure."; 1464; 1467; 2931; "DGI", "Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research"; ; rdfs:label "Diabetes Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9124 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9124; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The DGI Study material consisting of 2,931 individuals from Finland and Sweden (1,464 patients with type 2 diabetes and 1,467 nondiabetic control subjects) was ascertained as previously described (1,11,12)." . _:21d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The DGI Study material consisting of 2,931 individuals from Finland and Sweden (1,464 patients with type 2 diabetes and 1,467 nondiabetic control subjects) was ascertained as previously described (1,11,12)." . _:21d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132184"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "Diabetes Genetics Initiative (DGI) was supported by the Novartis Institute for BioMedical Research with additional support from The Richard and Susan Smith Family Foundation and American Diabetes Association Pinnacle Program Project Award." . _:21d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of type 2 diabetes and related quantitative traits by the Broad Institute of Harvard and MIT, Lund University and the Novartis Institutes for BioMedical Research. Its participants were patients with type 2 diabetes and matched non-diabetic controls from Finland and Sweden, genotyped and characterised for glucose metabolism, lipids, obesity and blood pressure."; "PMID:17463246", "PMID:18678614"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1464; "type 2 diabetes patients and nondiabetic controls from Finland and Sweden"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The DGI Study material consisting of 2,931 individuals from Finland and Sweden (1,464 patients with type 2 diabetes and 1,467 nondiabetic control subjects) was ascertained as previously described (1,11,12)." . _:21d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1467; "type 2 diabetes patients and nondiabetic controls from Finland and Sweden"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The DGI Study material consisting of 2,931 individuals from Finland and Sweden (1,464 patients with type 2 diabetes and 1,467 nondiabetic control subjects) was ascertained as previously described (1,11,12)." . _:21d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2931; "type 2 diabetes patients and nondiabetic controls from Finland and Sweden"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The DGI Study material consisting of 2,931 individuals from Finland and Sweden (1,464 patients with type 2 diabetes and 1,467 nondiabetic control subjects) was ascertained as previously described (1,11,12)." . _:21da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9133; , , , ; ; "GCST90132183"; "A consortium established to assemble genome-wide association studies of type 2 diabetes across diverse ancestry groups. It meta-analyses them within its European and East Asian ancestry components and, together with African, Hispanic and South Asian ancestry studies, in a multi-ancestry meta-regression, to discover and fine-map type 2 diabetes loci."; 180834; 1159055; "DIAMANTE", "DIAMANTE Consortium", "DIAbetes Meta-ANalysis Trans-Ethnic association studies", "Diabetes Meta-Analysis of Trans-Ethnic association studies"; ; rdfs:label "DIAbetes Meta-ANalysis of Trans-Ethnic association studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9133 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9133; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9179018/fullTextXML"; rdfs:comment "The DIAMANTE (DIAbetes Meta-ANalysis of Trans-Ethnic association studies) Consortium was established to assemble T2D GWAS across diverse ancestry groups." . _:21dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "The multi-ancestry meta-regression includes an additional 6,030 T2D cases and 29,810 controls from EGCUT, NEO and MGB, which were not part of the European ancestry-specific DIAMANTE study." . _:21dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "The multi-ancestry meta-regression does not include 21,151 T2D cases and 128,967 controls from BBJ that were part of the East Asian ancestry-specific DIAMANTE study." . _:21de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "The multi-ancestry meta-regression includes an additional 6,030 T2D cases and 29,810 controls from EGCUT, NEO and MGB, which were not part of the European ancestry-specific DIAMANTE study." . _:21df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "South Asian EPIDREAM, GRCCDS, INDICO, INTERHEART (2), LOLIPOP (1), LOLIPOP (2), LOLIPOP (4), PROMIS (1)." . _:21e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132183"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9179018/fullTextXML"; rdfs:comment "We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 cases and 1,159,055 controls (48.9% non-European descent) through the DIAMANTE (DIAbetes Meta-ANalysis of Trans-Ethnic association studies) Consortium." . _:21e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium established to assemble genome-wide association studies of type 2 diabetes across diverse ancestry groups. It meta-analyses them within its European and East Asian ancestry components and, together with African, Hispanic and South Asian ancestry studies, in a multi-ancestry meta-regression, to discover and fine-map type 2 diabetes loci."; "PMID:35551307"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 180834; "T2D cases and controls in the 2022 multi-ancestry meta-analysis (122 GWAS)"; "PMID:35551307"; rdfs:comment "We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium." . _:21e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1159055; "T2D cases and controls in the 2022 multi-ancestry meta-analysis (122 GWAS)"; "PMID:35551307"; rdfs:comment "We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium." . _:21e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIAMANTE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9144; , ; ; "GCST90134421"; "A breast cancer genetics consortium, one of the five projects funded in 2010 under the NCI's Genetic Associations and Mechanisms in Oncology (GAME-ON) post-GWAS initiative. It meta-analysed genome-wide summary data shared by existing breast cancer GWAS and genotyped breast cancer cases and controls on the OncoArray, to replicate known and find new breast cancer susceptibility loci."; 60015; "DRIVE", "Discovery, Biology and Risk of Inherited Variants in Breast Cancer Consortium"; ; rdfs:label "Discovery, Biology, and Risk of Inherited Variants in Breast Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9144 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9144; "breast cancer"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001265/phs001265.v1.p1/GapExchange_phs001265.v1.p1.xml"; rdfs:comment "The DRIVE data included under this dbGAP submission include OncoArray data from 60,015 breast cancer cases and controls genotyped at the Center for Inherited Disease Research (CIDR), University of Cambridge, National Cancer Institute, University of Copenhagen, University of Southern California and Mayo Clinic." . _:21e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11322043/fullTextXML"; rdfs:comment "OncoArray genotyping and phenotype data harmonization for the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) breast-cancer case control samples was supported by X01 HG007491 and U19 CA148065 and by Cancer Research UK (C1287/A16563). Genotyping was conducted by the Center for Inherited Disease Research (CIDR), Centre for Cancer Genetic Epidemiology, University of Cambridge, and the National Cancer Institute. The following studies contributed germline DNA from breast cancer cases and controls: the Two Sister Study (2SISTER), Breast Oncology Galicia Network (BREOGAN), Copenhagen General Population Study (CGPS), Cancer Prevention Study 2 (CPSII), The European Prospective Investigation into Cancer and Nutrition (EPIC), Melbourne Collaborative Cohort Study (MCCS), Multiethnic Cohort (MEC), Nashville Breast Health Study (NBHS), Nurses Health Study (NHS), Nurses Health Study 2 (NHS2), Polish Breast Cancer Study (PBCS), Prostate Lung Colorectal and Ovarian Cancer Screening Trial (PLCO), Studies of Epidemiology and Risk Factors in Cancer Heredity (SEARCH), The Sister Study (SISTER), Swedish Mammographic Cohort (SMC), Women of African Ancestry Breast Cancer Study (WAABCS), Women’s Health Initiative (WHI)." . _:21e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1002118"; rdfs:comment "Members of DRIVE DRIVE acknowledges the following GWASs and investigators that shared genome-wide summary data as part of the breast-cancer GWAS meta-analysis: the Australian Breast Cancer Family Study (ABCFS)" . _:21e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134421"; "Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis."; "PMID:35803233", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9300879/"; rdfs:comment "This GWAS meta-analyzed data from BCAC and DRIVE (Discovery, Biology and Risk of Inherited Variants in Breast Cancer Consortium), combining 11.8 million variants in 122,977 BC-affected women (of which 69,501 were ER+ cases and 21,468 were ER–) and 105,974 female control subjects (all of European ancestry)." . _:21e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer genetics consortium, one of the five projects funded in 2010 under the NCI's Genetic Associations and Mechanisms in Oncology (GAME-ON) post-GWAS initiative. It meta-analysed genome-wide summary data shared by existing breast cancer GWAS and genotyped breast cancer cases and controls on the OncoArray, to replicate known and find new breast cancer susceptibility loci."; "PMID:27598322", "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001265/phs001265.v1.p1/GapExchange_phs001265.v1.p1.xml"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60015; "breast cancer cases and controls genotyped on the OncoArray in DRIVE's dbGaP submission"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001265/phs001265.v1.p1/GapExchange_phs001265.v1.p1.xml"; rdfs:comment "The DRIVE data included under this dbGAP submission include OncoArray data from 60,015 breast cancer cases and controls genotyped at the Center for Inherited Disease Research (CIDR), University of Cambridge, National Cancer Institute, University of Copenhagen, University of Southern California and Mayo Clinic." . _:21eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DRIVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9152, _:genid-371333f489424440b12a13b9d98ced822608-genid9154, _:genid-371333f489424440b12a13b9d98ced822608-genid9156, _:genid-371333f489424440b12a13b9d98ced822608-genid9158, _:genid-371333f489424440b12a13b9d98ced822608-genid9160; , , , , , , , , , , ; ; ; "GCST90132314"; "A case-cohort study nested within the European Prospective Investigation into Cancer and Nutrition, designed to investigate the determinants of cardiovascular disease. EPIC participants with incident coronary heart disease or stroke, identified from 1991 to 2010, are compared with a centre-stratified random subcohort of EPIC participants with stored blood samples, in which molecular factors, including genotypes, are measured."; 32549; "EPIC CAD", "EPIC-CVD", "EPIC-CVD case-cohort study", "EPIC_CAD", "European Prospective Investigation into Cancer and Nutrition – Cardiovascular Disease"; ; rdfs:label "European Prospective Investigation into Cancer and Nutrition–Cardiovascular Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9152 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9154 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9156 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9158 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9160 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9152; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5972779/fullTextXML"; rdfs:comment "EPIC-CVD is a multi centre case-cohort study nested within the EPIC cohort designed to investigate the determinants of cardiovascular disease (CVD)." . _:21ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9154; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5972779/fullTextXML"; rdfs:comment "EPIC-CVD is a multi centre case-cohort study nested within the EPIC cohort designed to investigate the determinants of cardiovascular disease (CVD)." . _:21ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9156; "alcohol consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5972779/fullTextXML"; rdfs:comment "We harmonised exposure data across participating countries on alcohol consumption, smoking status, and other lifestyle characteristics, and studied validated CVD outcomes." . _:21ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9158; "smoking status"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5972779/fullTextXML"; rdfs:comment "We harmonised exposure data across participating countries on alcohol consumption, smoking status, and other lifestyle characteristics, and studied validated CVD outcomes." . _:21f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9160; "dietary fatty acids and their food sources"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5972779/fullTextXML"; rdfs:comment "We harmonised exposure data across participating countries on alcohol consumption, smoking status, and other lifestyle characteristics, and studied validated CVD outcomes." . _:21f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9729111/supplementaryFiles"; rdfs:comment "The EPIC cohort consists of 366,521 women and 153,457 men, aged between 35 and 70years at baseline, recruited from the population at 23 centres across 10 European countries (Denmark, France, Germany, Greece, Italy, The Netherlands, Norway, Spain, Sweden and the UK) between 1992 and 2000." . _:21f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9729111/supplementaryFiles"; rdfs:comment "EPIC-CVD is a case-cohort study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort (1)." . _:21f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132314"; "Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants."; "PMID:36474045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9729111/supplementaryFiles"; rdfs:comment "EPIC-CVD is a case-cohort study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort (1)." . _:21f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-cohort study nested within the European Prospective Investigation into Cancer and Nutrition, designed to investigate the determinants of cardiovascular disease. EPIC participants with incident coronary heart disease or stroke, identified from 1991 to 2010, are compared with a centre-stratified random subcohort of EPIC participants with stored blood samples, in which molecular factors, including genotypes, are measured."; "PMID:29844013", "PMID:34796724", "PMID:40099743"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32549; "case-cohort participants (incident CVD cases plus subcohort) in the 2018 alcohol analysis, after exclusions (analysed subset), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5972779/fullTextXML"; rdfs:comment "After exclusion of participants with missing values for smoking variables (n=505), baseline alcohol consumption (51), body mass index (273), physical activity (333), and history of hypertension (1112), 32 549 participants (52% women, 17 015/32 549), remained in the analysis." . _:21f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC CAD"; . _:21f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-CVD"; . _:21f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC_CAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9170; , , ; "GCST90245867"; "A family-based study of the genetic and environmental causes of ischaemic stroke, begun in June 2005 in the Fangshan District, a rural area southwest of Beijing, China. It recruited people with ischaemic stroke as probands, with their parents and siblings, through hospital and community stroke registries, and in a second phase in 2011–2012 enrolled participants aged 40 or over through posters and community health centre records. The families enrolled between 2005 and 2012 are followed up every two years."; "FISSIC", "Fangshan Family-Based Ischemic Stroke Study", "Fangshan Family-Based Ischemic Stroke Study in China", "Fangshan/Family-based Ischemic Stroke Study In China", "Fangshan/Family-based Ischemic Stroke Study in China"; ; rdfs:label "Fangshan Family-based Ischemic Stroke Study in China"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9170; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1997110/fullTextXML"; rdfs:comment "The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) program aims to conduct a genetic pedigree study of ischemic stroke in rural communities of China." . _:21fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9775185/fullTextXML"; rdfs:comment "FISSIC is an ongoing community observational study that started in June 2005 in the Fangshan District, a rural area southwest of Beijing, China." . _:21fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90245867"; "Identification of Novel Metabolic Subtypes Using Multi-Trait Limited Mixed Regression in the Chinese Population."; "PMID:36551856", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36551856+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To deconstruct the heterogeneity, we used baseline data from phase II of the Fangshan Family-Based Ischemic Stroke Study (FISSIC), and a total of 4632 participants were included." . _:21fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of the genetic and environmental causes of ischaemic stroke, begun in June 2005 in the Fangshan District, a rural area southwest of Beijing, China. It recruited people with ischaemic stroke as probands, with their parents and siblings, through hospital and community stroke registries, and in a second phase in 2011–2012 enrolled participants aged 40 or over through posters and community health centre records. The families enrolled between 2005 and 2012 are followed up every two years."; "PMID:17825112", "PMID:31823830", "PMID:36551856", "PMID:42259975"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:21fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FISSIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9176; , , , ; "GCST90558311"; "An international consortium, established to characterise the known genetic causes of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) and to find new genetic risk factors for it and its pathological subtypes. It whole-genome sequences people with pathologically confirmed FTLD-TDP (and, from its second phase, clinically diagnosed FTLD subtypes enriched for FTLD-TDP) and neurologically normal controls, compiled from institutions and brain banks in North America, Europe and Australia."; 985; 3153; "FTLD-TDP WGS", "FTLD-TDP WGS International consortium", "FTLD-TDP WGS consortium", "International FTLD-TDP WGS consortium", "Whole genome sequencing consortium on Frontotemporal dementia with underlying TDP-43 pathology", "international FTLD-TDP whole-genome sequencing consortium"; ; rdfs:label "International FTLD-TDP Whole-Genome Sequencing Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9176 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:21fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9176; "frontotemporal lobar degeneration with TDP-43 inclusions"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6533145/unicode"; rdfs:comment "Through collaborative efforts across North America, Europe and Australia, we established the International FTLD-TDP WGS Consortium and identified 1,154 unrelated patients with a pathologically confirmed diagnosis of FTLD-TDP and a source of DNA available for basic genetic characterization (Table 1)." . _:21ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40280976+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort." . _:22002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558311"; "Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing."; "PMID:40280976", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40280976+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort." . _:22012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium, established to characterise the known genetic causes of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) and to find new genetic risk factors for it and its pathological subtypes. It whole-genome sequences people with pathologically confirmed FTLD-TDP (and, from its second phase, clinically diagnosed FTLD subtypes enriched for FTLD-TDP) and neurologically normal controls, compiled from institutions and brain banks in North America, Europe and Australia."; "PMID:30739198", "PMID:40280976"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 985; "FTLD-TDP patients and controls in the 2025 consortium GWAS (26 institutions/brain banks)"; "PMID:40280976"; rdfs:comment "We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort." . _:22032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3153; "FTLD-TDP patients and controls in the 2025 consortium GWAS (26 institutions/brain banks)"; "PMID:40280976"; rdfs:comment "We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort." . _:22042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTLD-TDP WGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9184; , ; "GCST90134661"; "A family study of lung cancer in the United States in which the recruitment sites of the Genetic Epidemiology of Lung Cancer Consortium enrolled lung cancer patients with a family history of the disease, relatives in families with several affected members, and unaffected controls frequency-matched to the cases on age and sex, collecting pedigrees, smoking histories and biospecimens to identify inherited factors that confer a high risk of lung cancer."; "GELCC"; ; rdfs:label "Genetic Epidemiology of Lung Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9184 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9184; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15272417+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify susceptibility genes for familial lung cancer, we conducted a genomewide linkage analysis of 52 extended pedigrees ascertained through probands with lung cancer who had several first-degree relatives with the same disease." . _:22062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13259588/"; rdfs:comment "GELCC is a U.S.-based research network studying FLC." . _:22072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134661"; "Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer."; "PMID:35915169", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01115-x/MediaObjects/41588_2022_1115_MOESM1_ESM.pdf"; rdfs:comment "Cross-ancestry genome-wide meta-analyses were conducted in the twelve different studies consisting of Affymetrix Axome Array Study (AFFY), the Female Lung Cancer Consortium in Asia (FLCCA), the Genetic Epidemiology of Lung Cancer Consortium (GELCC), the Environment and Genetics in Lung cancer Etiology study (EAGLE), Helmholtz-Gemeinschaft Deutscher Forschungszentren Lung Cancer GWAS (GERMAN), the International Agency for Research on Cancer (IARC), the Institute of Cancer Research (ICR), MD Anderson Cancer Center Study (MDACC), NCI Lung Cancer and Smoking Phenotypes in African- American Cases and Controls (NCI), OncoArray Consortium Lung Study (ONCO), the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial (PLCO), and Samuel Lunenfeld Research Institute Study (SLRI)." . _:22082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of lung cancer in the United States in which the recruitment sites of the Genetic Epidemiology of Lung Cancer Consortium enrolled lung cancer patients with a family history of the disease, relatives in families with several affected members, and unaffected controls frequency-matched to the cases on age and sex, collecting pedigrees, smoking histories and biospecimens to identify inherited factors that confer a high risk of lung cancer."; "PMID:15272417", "PMID:29924316", "PMID:41390056", "https://www.gelcc.org/node/3"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GELCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9190; , , ; "GCST90101797"; "An ancillary pharmacogenetic study of the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT), a double-blind randomised trial of antihypertensive drugs in people aged 55 or older with hypertension and at least one other cardiovascular risk factor, conducted in 1994–2002 at centres in the United States and Canada. GenHAT genotyped the ALLHAT participants with available DNA to test whether variants in hypertension genes modify the effect of the randomised treatment on coronary heart disease and other cardiovascular outcomes."; 39114; "GenHAT", "Genetics of Hypertension Associated Treatments", "Genetics of Hypertension-Associated Treatment"; ; rdfs:label "Genetics of Hypertension Associated Treatment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9190 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:220a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9190; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12439737+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GenHAT is an ancillary study of the Antihypertensive and Lipid Lowering Treatment to Prevent Heart Attack Trial, ALLHAT, a double-blind, randomized trial of 42 418 hypertensives, 55 years of age or older, with systolic or diastolic hypertension and one or more risk factors for cardiovascular disease." . _:220b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3160956/fullTextXML"; rdfs:comment "We note that both the Black and Hispanic groups likely had diverse ancestry given that participants were recruited in the US, Canada, and the Caribbean; therefore, some degree of population substructure is expected." . _:220c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101797"; "Genetic Contributors of Incident Stroke in 10,700 African Americans With Hypertension: A Meta-Analysis From the Genetics of Hypertension Associated Treatments and Reasons for Geographic and Racial Differences in Stroke Studies."; "PMID:34992631", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34992631+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Methods: In a population comprising over 10,700 AAs treated for hypertension from the Genetics of Hypertension Associated Treatments (GenHAT) and Reasons for Geographic and Racial Differences in Stroke (REGARDS) studies, we performed an inverse variance-weighted meta-analysis of incident stroke." . _:220d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ancillary pharmacogenetic study of the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT), a double-blind randomised trial of antihypertensive drugs in people aged 55 or older with hypertension and at least one other cardiovascular risk factor, conducted in 1994–2002 at centres in the United States and Canada. GenHAT genotyped the ALLHAT participants with available DNA to test whether variants in hypertension genes modify the effect of the randomised treatment on coronary heart disease and other cardiovascular outcomes."; "PMID:12439737", "PMID:21887284", "PMID:26791477", "PMID:35886043"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:220e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 39114; "ALLHAT participants in the original GenHAT study"; "PMID:35886043"; rdfs:comment "The original GenHAT study (n = 39,114) evaluated the interaction between candidate hypertensive genetic variants and different antihypertensive treatments to modify the risk of fatal and non-fatal CVD outcomes [24]." . _:220f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenHAT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9197, _:genid-371333f489424440b12a13b9d98ced822608-genid9199; , ; "GCST90132135"; "A genetic case-control study of chronic obstructive pulmonary disease conducted in Bergen, Norway, in 2003–2005 and sponsored by GlaxoSmithKline, which enrolled current and former smokers aged 40 or older: patients with at least moderate COPD, recruited from a hospital patient registry and from the general population, and smokers with normal lung function as controls."; 1671; "Bergen, Norway COPD Cohort", "GenKOLS", "Genetics of COPD in Norway Study", "Genetics of COPD, Norway", "Norway GenKOLS"; ; rdfs:label "Genetics of Chronic Obstructive Lung Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9197 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9197; "current or former smoker with ≥2.5 pack-years of smoking history"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4169636/fullTextXML"; rdfs:comment "Enrolment criteria were: 1) self-reported Caucasian; 2) aged > 40 years; 3) current or former smoker with ≥2.5 pack-years of smoking history; and 4) no severe α1-antitrypsin deficiency." . _:22112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9199; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19300482+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study (GWAS) in a homogenous case-control cohort from Bergen, Norway (823 COPD cases and 810 smoking controls) and evaluated the top 100 single nucleotide polymorphisms (SNPs) in the family-based International COPD Genetics Network (ICGN; 1891 Caucasian individuals from 606 pedigrees) study." . _:22122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4169636/fullTextXML"; rdfs:comment "In GenKOLS study, subjects for the case-control study were recruited from Bergen, Norway." . _:22132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132135"; "A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts."; "PMID:35769418", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9234425/fullTextXML"; rdfs:comment "Six non-overlapping cohorts contributed to our primary analysis: the Framingham Heart Study (FHS) [21]; Genetic Epidemiology of COPD (COPDGene) [22]; Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE) [23]; Treatment of Emphysema with a Gamma-Selective Retinoid Agonist (TESRA) [24]; the Bergen, Norway COPD Cohort, Genetics of Chronic Obstructive Lung Disease (GenKOLS) [25]; and the Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS) [26]." . _:22142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic case-control study of chronic obstructive pulmonary disease conducted in Bergen, Norway, in 2003–2005 and sponsored by GlaxoSmithKline, which enrolled current and former smokers aged 40 or older: patients with at least moderate COPD, recruited from a hospital patient registry and from the general population, and smokers with normal lung function as controls."; "PMID:19300482", "PMID:25134640", "PMID:25241909", "PMID:31413559", "PMID:32944202"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1671; "GenKOLS cases and controls analysed in a smoking GWAS (analysed subset)"; "PMID:29767774"; rdfs:comment "We performed genome-wide association analyses for average cigarettes per day (CPD) across the Genetic Epidemiology of COPD (COPDGene) non-Hispanic white (NHW) (n = 6659) and African American (AA) (n = 3260), GenKOLS (the Genetics of Chronic Obstructive Lung Disease) (n = 1671), and ECLIPSE (the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints) (n = 1942) cohorts." . _:22162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenKOLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9206, _:genid-371333f489424440b12a13b9d98ced822608-genid9208; , ; ; "GCST90565869"; "A recontactable cohort of people aged 16 or over living in the United Kingdom, run by the NIHR Mental Health BioResource at King's College London, which recruits online people with current or past depression or anxiety, and also people with no history of mental disorder, into the NIHR BioResource. Participants complete questionnaires, give saliva samples for genotyping and consent to medical record linkage and recontact, to support research on risk factors for depression and anxiety."; 79831; "GLAD", "Genetic Links to Anxiety and Depression"; ; rdfs:label "Genetic Links to Anxiety and Depression Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9208 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9206; "depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31715324+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Genetic Links to Anxiety and Depression (GLAD) Study (www.gladstudy.org.uk) recruits individuals with depression or anxiety into the NIHR Mental Health BioResource." . _:22182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9208; "anxiety"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31715324+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Genetic Links to Anxiety and Depression (GLAD) Study (www.gladstudy.org.uk) recruits individuals with depression or anxiety into the NIHR Mental Health BioResource." . _:22192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12381276/supplementaryFiles"; rdfs:comment "The GLAD+ Study combines two United Kingdom (UK) cohorts: the Genetic Links to Anxiety and Depression (GLAD) Study and the National Institute for Health and Care Research (NIHR) BioResource COVID-19 Psychiatry and Neurological Genetics (COPING) Study." . _:221a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6891252/fullTextXML"; rdfs:comment "Once participants have returned their saliva sample, they become full members of the GLAD Study (and of the NIHR BioResource) and are eligible to take part in future studies." . _:221b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565869"; "Sex-stratified genome-wide association meta-analysis of major depressive disorder."; "PMID:40858613", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12381276/supplementaryFiles"; rdfs:comment "The GLAD+ Study combines two United Kingdom (UK) cohorts: the Genetic Links to Anxiety and Depression (GLAD) Study and the National Institute for Health and Care Research (NIHR) BioResource COVID-19 Psychiatry and Neurological Genetics (COPING) Study." . _:221c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A recontactable cohort of people aged 16 or over living in the United Kingdom, run by the NIHR Mental Health BioResource at King's College London, which recruits online people with current or past depression or anxiety, and also people with no history of mental disorder, into the NIHR BioResource. Participants complete questionnaires, give saliva samples for genotyping and consent to medical record linkage and recontact, to support research on risk factors for depression and anxiety."; "PMID:31715324", "https://gladstudy.org.uk/about/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:221d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 79831; "people signed up to the study (live website counter), 2026"; "https://gladstudy.org.uk/"; rdfs:comment "79,831 people have signed up so far" . _:221e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLAD"; . a owl:NamedIndividual, ; , ; "GCST90302180"; "A biobank sub-study of SHARE, the Scottish Health Research Register, in NHS Tayside and NHS Fife, Scotland, which collects, with consent, blood left over from registrants' routine clinical tests at hospital or GP clinics for genotyping linked to their anonymised electronic health records; it began as a Wellcome Trust-funded pilot in NHS Tayside."; 74000; "Genetics of SHARE", "Genetics of Scottish Health Research Register", "Genetics of Share", "Genetics of the NHS Scotland Health Research Register", "GoSHARE", "goSHARE"; ; rdfs:label "Genetics of the Scottish Health Research Register"@en . _:221f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12453674/supplementaryFiles"; rdfs:comment "Genetics of the Scottish Health Research Register (GoSHARE)4 is a sub-study of the SHARE initiative where almost 75,000 individuals living in Scotland have linked EHRs and consented for genotyping analysis." . _:22202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90302180"; "Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations."; "PMID:37308106", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10369131/fullTextXML"; rdfs:comment "GoSHARE currently comprises a biobank of ∼74,000 individuals across the National Health Service Fife and the National Health Service Tayside (19)." . _:22212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank sub-study of SHARE, the Scottish Health Research Register, in NHS Tayside and NHS Fife, Scotland, which collects, with consent, blood left over from registrants' routine clinical tests at hospital or GP clinics for genotyping linked to their anonymised electronic health records; it began as a Wellcome Trust-funded pilot in NHS Tayside."; "PMID:28148535", "PMID:29025058", "PMID:37308106", "PMID:39792440"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 74000; "individuals in the GoSHARE biobank (approximate), 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10369131/fullTextXML"; rdfs:comment "GoSHARE currently comprises a biobank of ∼74,000 individuals across the National Health Service Fife and the National Health Service Tayside (19)." . _:22232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GoSHARE"; . _:22242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "goSHARE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9222, _:genid-371333f489424440b12a13b9d98ced822608-genid9224; , , ; "GCST90104462"; "A multisite case-control study of reading disability (developmental dyslexia) in Hispanic American and African American children aged 8 to 15, led by Yale University at sites in the United States, Puerto Rico and Canada, in which the children were assessed with reading and reading-related measures and gave DNA for genetic studies of reading ability and dyslexia."; 1432; "GRaD", "Genes, Reading and Dyslexia", "Genes, Reading, and Dyslexia"; ; rdfs:label "Genes, Reading and Dyslexia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9222 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9224 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9222; "reading disability"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6678051/fullTextXML"; rdfs:comment "The GRaD study is a multisite, case–control study of RD in minority youth across the USA, Canada and Puerto Rico." . _:22262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9224; "dyslexia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6678051/fullTextXML"; rdfs:comment "The GRaD study is a multisite, case–control study of RD in minority youth across the USA, Canada and Puerto Rico." . _:22272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6678051/fullTextXML"; rdfs:comment "The GRaD study is a multisite, case–control study of RD in minority youth across the USA, Canada and Puerto Rico." . _:22282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/supplementaryFiles"; rdfs:comment "Most cohorts mainly include participants of European ancestry, with the exception of the GRaD cohort, which consists of individuals of African-American and Hispanic ancestry, and the ABCD Study, GenR and PING cohort, which include multiple ancestries." . _:22292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multisite case-control study of reading disability (developmental dyslexia) in Hispanic American and African American children aged 8 to 15, led by Yale University at sites in the United States, Puerto Rico and Canada, in which the children were assessed with reading and reading-related measures and gave DNA for genetic studies of reading ability and dyslexia."; "PMID:30631481", "PMID:30995994", "PMID:38702345"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:222a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1432; "unrelated children recruited with phenotype data and DNA"; "PMID:30995994"; rdfs:comment "Subject recruitment and collection of phenotype data and DNA were completed for 1432 unrelated children." . _:222b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRaD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9231; ; , ; "GCST90013445"; "A collection of people with type 1 diabetes diagnosed before the age of 17, assembled by the JDRF/Wellcome Trust Diabetes and Inflammation Laboratory from paediatric and adult diabetes clinics at National Health Service hospitals across mainland United Kingdom, whose DNA and plasma samples are used in genetic and other studies of type 1 diabetes."; 8344; "GRID", "Genetics Resource Investigating Diabetes", "JDRF/WT", "JDRF/WT British case collection", "Juvenile Diabetes Research Foundation International/Wellcome Trust British case collection", "Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratorys British case collection", "UK GRID", "UK Genetic Resource Investigating Diabetes"; ; rdfs:label "Genetic Resource Investigating Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9231 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:222c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9231; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9233242/fullTextXML"; rdfs:comment "It must be noted that the UK GRID cohort included only those individuals with type 1 diabetes, and as such, in this study we do not have access to a population without type 1 diabetes for comparison of C-peptide levels." . _:222d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33179336+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide meta-analysis for age at diagnosis with cohorts from Finland (Finnish Diabetic Nephropathy Study), the United Kingdom (UK Genetic Resource Investigating Diabetes) and Sardinia." . _:222e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "D.B.D. provided samples for genotyping through the Genetic Resource Investigating Diabetes (GRID)." . _:222f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of people with type 1 diabetes diagnosed before the age of 17, assembled by the JDRF/Wellcome Trust Diabetes and Inflammation Laboratory from paediatric and adult diabetes clinics at National Health Service hospitals across mainland United Kingdom, whose DNA and plasma samples are used in genetic and other studies of type 1 diabetes."; "PMID:17554300", "PMID:22025780", "PMID:35499624"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8344; "GRID type 1 diabetes case subjects genotyped for one SNP study (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3198057/"; rdfs:comment "A total of 8,344 type 1 diabetic subjects, 10,008 control subjects, and 3,360 type 1 diabetic families were genotyped at the FUT2 SNP rs601338 and at two HLA tag SNPs rs2187668 and rs660895 using TaqMan 5′ nuclease assay (Applied Biosystems, Warrington, U.K.)" . _:22312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRID"; . _:22322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JDRF/WT"; . _:22332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK GRID"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9240; , , , , , , , ; "GCST90435254"; "An international prospective observational registry and natural history study of hypertrophic cardiomyopathy funded by the National Heart, Lung, and Blood Institute, which enrolled patients aged 18 to 65 with hypertrophic cardiomyopathy (unexplained left ventricular hypertrophy) at centres in the United States, Canada, the United Kingdom, Italy, Germany and the Netherlands in 2014–2017. Participants underwent clinical evaluation, cardiac magnetic resonance imaging and blood sampling for genetic and biomarker analysis, and are followed for cardiovascular events to improve risk prediction."; 2755; "HCMR", "Hypertrophic Cardiomyopathy registry", "NHLBI HCM Registry"; ; rdfs:label "Hypertrophic Cardiomyopathy Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9240 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9240; "hypertrophic cardiomyopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31699273+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HCMR (Hypertrophic Cardiomyopathy Registry) is a National Heart, Lung, and Blood Institute-funded, prospective registry of 2,755 patients with hypertrophic cardiomyopathy (HCM) recruited from 44 sites in 6 countries." . _:22352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6905038/"; rdfs:comment "Patients were enrolled from 44 sites in the U.S. (18), Canada (4), United Kingdom (13), Italy (4), Germany (3), and the Netherlands (2) between April, 2014 and April, 2017 (Supplemental Table 1)." . _:22362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435254"; "Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy."; "PMID:39966646", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906354/fullTextXML"; rdfs:comment "The HCM GWAS included cases and controls from seven strata: the Hypertrophic Cardiomyopathy Registry (HCMR), a Canadian HCM cohort, a Netherlands HCM cohort, the Genomics England 100,000 Genome Project (GEL), the Royal Brompton HCM cohort, an Italian HCM cohort and the BioResource for Rare Disease (BRRD) project." . _:22372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international prospective observational registry and natural history study of hypertrophic cardiomyopathy funded by the National Heart, Lung, and Blood Institute, which enrolled patients aged 18 to 65 with hypertrophic cardiomyopathy (unexplained left ventricular hypertrophy) at centres in the United States, Canada, the United Kingdom, Italy, Germany and the Netherlands in 2014–2017. Participants underwent clinical evaluation, cardiac magnetic resonance imaging and blood sampling for genetic and biomarker analysis, and are followed for cardiovascular events to improve risk prediction."; "PMID:26299218", "PMID:31699273"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2755; "patients with HCM enrolled at 44 sites in 6 countries"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6905038/unicode"; rdfs:comment "The Hypertrophic Cardiomyopathy Registry (HCMR) is a prospective NHLBI-funded registry of 2755 HCM patients recruited across Europe and North America." . _:22392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCMR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9247, _:genid-371333f489424440b12a13b9d98ced822608-genid9249; , ; , ; "GCST90002228"; "A family study of Mexican Americans in the Los Angeles area, United States, which recruited the family members of probands with documented hypertension and measured insulin sensitivity by euglycaemic clamp, to examine the genetic basis of hypertension and insulin resistance."; 708; "HTN", "HTN-IR", "Hypertension-Insulin Resistance Family study", "The Hypertension-Insulin Resistance Family Study"; ; rdfs:label "Hypertension-Insulin Resistance Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9247 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9249 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:223a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9247; "insulin resistance"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "The Hypertension-Insulin Resistance Family Study (HTN-IR) was designed as a family study to examine the genetic basis of hypertension and insulin resistance." . _:223b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9249; "hypertension"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "The Hypertension-Insulin Resistance Family Study (HTN-IR) was designed as a family study to examine the genetic basis of hypertension and insulin resistance." . _:223c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Family members of probands with documented hypertension were recruited in the Los Angeles area." . _:223d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002228"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Hypertension-Insulin Resistance Family Study (HTN)" . _:223e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Mexican Americans in the Los Angeles area, United States, which recruited the family members of probands with documented hypertension and measured insulin sensitivity by euglycaemic clamp, to examine the genetic basis of hypertension and insulin resistance."; "PMID:24124113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:223f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 708; "HTN-IR individuals from 156 families included in GUARDIAN (subset)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "GUARDIAN includes 708 of these individuals from 156 families." . _:22402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HTN"; . _:22412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HTN-IR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9257; , , , , , , ; , , , , , , , , , , , ; "GCST010723"; "An international consortium of 26 studies of age-related macular degeneration, mainly in the United States, Europe, Israel and Australia, which gathered DNA from advanced and intermediate AMD cases, mostly recruited from ophthalmology clinics, and from controls, predominantly of European ancestry. The samples were genotyped centrally at the Center for Inherited Disease Research on a custom-modified HumanCoreExome array to examine common and rare genetic variants in AMD."; 16144; 17832; 43566; "IAMDGC", "International AMD genomics consortium", "International Age-Related Macular Degeneration Genomics Consortium", "International Age-related Macular Degeneration Genomics Consortium"; ; rdfs:label "International AMD Genomics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9257 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9257; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26691988+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci." . _:22432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "The EUGENDA samples were genotyped as part of the IAMDGC exome chip project supported by CIDR" . _:22442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The Edinburgh group using the Scottish AMD study was funded by the Chief scientists Office (Scotland) CSO reference number: CZB/4/79" . _:22452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The CWRU group was supported by VA Merit Review (NSP), Foundation Fighting Blindness (SAH), Research to Prevent Blindness (SAH); International Retinal Research Foundation (SKI)." . _:22462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "MMAP-Michigan Clinic Clinic Clinic Yes Yes Yes No International 16" . _:22472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The Rotterdam-Clinic study was supported by ZoNMW project number: 170885606, MDfonds, Landelijke Stichting voor Blinden en Slechtzienden (LSBS)." . _:22482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "UCSD Clinic Clinic Clinic Yes Yes Yes OCT AREDS 21,22" . _:22492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "UWA, LEI & Flinders 2 1,040 432 0 2,493 3,967" . _:224a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "Sydney-Westmead includes: Blue Mountains Eye Study (controls from population)" . _:224b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "EU/JHU includes several studies: Jerusalem, Paris, Southampton, Baltimore, Bonn, and Créteil" . _:224c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "Utah includes four collections: SNUBH, Greece (cases/controls from clinics)" . _:224d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11156861/fullTextXML"; rdfs:comment "The 2016 study of the IAMDGC included an Israeli cohort." . _:224e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The EUGENDA-Neijmegen study was supported by MD Fonds" . _:224f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST010723"; "Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease."; "PMID:32843070", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32843070+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB)." . _:22502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of 26 studies of age-related macular degeneration, mainly in the United States, Europe, Israel and Australia, which gathered DNA from advanced and intermediate AMD cases, mostly recruited from ophthalmology clinics, and from controls, predominantly of European ancestry. The samples were genotyped centrally at the Center for Inherited Disease Research on a custom-modified HumanCoreExome array to examine common and rare genetic variants in AMD."; "PMID:26691988"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16144; "subjects in the 2016 IAMDGC data set after QC (advanced and intermediate AMD, controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4745342/unicode"; rdfs:comment "Our final data set included a total of 43,566 subjects consisting of 16,144 advanced AMD patients and 17,832 control subjects of European ancestry for our primary analysis, as well as 6,657 Europeans with intermediate disease and 2,933 subjects with Non-European ancestry (Supplementary Table 3B, Supplementary Figure 1)." . _:22522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17832; "subjects in the 2016 IAMDGC data set after QC (advanced and intermediate AMD, controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4745342/unicode"; rdfs:comment "Our final data set included a total of 43,566 subjects consisting of 16,144 advanced AMD patients and 17,832 control subjects of European ancestry for our primary analysis, as well as 6,657 Europeans with intermediate disease and 2,933 subjects with Non-European ancestry (Supplementary Table 3B, Supplementary Figure 1)." . _:22532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 43566; "subjects in the 2016 IAMDGC data set after QC (advanced and intermediate AMD, controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4745342/unicode"; rdfs:comment "Our final data set included a total of 43,566 subjects consisting of 16,144 advanced AMD patients and 17,832 control subjects of European ancestry for our primary analysis, as well as 6,657 Europeans with intermediate disease and 2,933 subjects with Non-European ancestry (Supplementary Table 3B, Supplementary Figure 1)." . _:22542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IAMDGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9277; , , , , , ; ; "GCST006906"; "A group of six genome-wide association case-control studies of spontaneous intracerebral haemorrhage in people of European ancestry, meta-analysed under the auspices of the International Stroke Genetics Consortium to find susceptibility loci for lobar and nonlobar haemorrhage. It comprises the multicentre Genetics of Cerebral Hemorrhage with Anticoagulation study in the United States, the Genetic and Environmental Risk Factors for Hemorrhagic Stroke studies I and II in Cincinnati, and four European studies in Barcelona, Krakow and Lund."; 1545; 1481; "ICH"; ; rdfs:label "International Stroke Genetics Consortium intracerebral hemorrhage GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9277 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9277; "intracerebral hemorrhage"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24656865+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report a genome-wide association study of this condition that meta-analyzed data from six studies that enrolled individuals of European ancestry. Case subjects were ascertained by neurologists blinded to genotype data and classified as lobar or nonlobar based on brain computed tomography. ICH-free control subjects were sampled from ambulatory clinics or random digit dialing." . _:22562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Case and control subjects included in the discovery phase were subjects of European ancestry aged >55 years in the Genetics of Cerebral Hemorrhage with Anticoagulation13 (GOCHA) study (multicenter study in the US) and aged >18 years in the Genetic and Environmental Risk Factors for Hemorrhagic Stroke (GERFHS) studies I and II in Cincinnati, OH; Hospital del Mar Intracerebral Hemorrhage study and Vall d’Hebron Hospita lCH study in Barcelona, Spain; Jagiellonian University Hemorrhagic Stroke Study in Krakow, Poland; and the Lund Stroke Register study in Lund, Sweden." . _:22572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST006906"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "ICH 1,545 1,481" . _:22582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A group of six genome-wide association case-control studies of spontaneous intracerebral haemorrhage in people of European ancestry, meta-analysed under the auspices of the International Stroke Genetics Consortium to find susceptibility loci for lobar and nonlobar haemorrhage. It comprises the multicentre Genetics of Cerebral Hemorrhage with Anticoagulation study in the United States, the Genetic and Environmental Risk Factors for Hemorrhagic Stroke studies I and II in Cincinnati, and four European studies in Barcelona, Krakow and Lund."; "PMID:24656865", "PMID:29531354"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1545; "ICH cases and controls in the discovery meta-analysis of six GWAS (2014)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3980413/"; rdfs:comment "The discovery phase included a case cohort of 1,545 individuals (664 lobar and 881 nonlobar cases) and a control cohort of 1,481 individuals and identified two susceptibility loci: for lobar ICH, chromosomal region 12q21.1 (rs11179580, odds ratio [OR] = 1.56, p = 7.0 × 10−8); and for nonlobar ICH, chromosomal region 1q22 (rs2984613, OR = 1.44, p = 1.6 × 10−8)." . _:225a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1481; "ICH cases and controls in the discovery meta-analysis of six GWAS (2014)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3980413/"; rdfs:comment "The discovery phase included a case cohort of 1,545 individuals (664 lobar and 881 nonlobar cases) and a control cohort of 1,481 individuals and identified two susceptibility loci: for lobar ICH, chromosomal region 12q21.1 (rs11179580, odds ratio [OR] = 1.56, p = 7.0 × 10−8); and for nonlobar ICH, chromosomal region 1q22 (rs2984613, OR = 1.44, p = 1.6 × 10−8)." . _:225b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9285; , ; "GCST90134661"; "A genome-wide association case-control study of lung cancer in the United Kingdom, run at the Institute of Cancer Research, which genotyped lung cancer patients recruited in 1999–2004 through UK oncology centres for the Genetic Lung Cancer Predisposition Study (GELCAPS) and compared them with genotyped controls from the 1958 British Birth Cohort."; "The acronym ICR also denotes Icelandic Cancer Registry (COHO:0000096); this term is UK lung cancer GWAS from the Institute for Cancer Research."@en; 1952; 1438; "ICR", "ICR-GWA study", "ICR-GWAS", "ICR_b", "UK-GWA study"; ; rdfs:label "UK lung cancer GWAS from the Institute for Cancer Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9285 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:225c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9285; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18978787+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association (GWA) study of lung cancer comparing 511,919 SNP genotypes in 1,952 cases and 1,438 controls." . _:225d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607485/fullTextXML"; rdfs:comment "the UK lung cancer GWAS from the Institute for Cancer Research including lung cancer cases from the Genetic Lung Cancer Predisposition Study (GELCAPS) and controls from the 1958 Birth Cohort" . _:225e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134661"; "Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer."; "PMID:35915169", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9373844/unicode"; rdfs:comment "Axiom Array Study (AFFY), the Female Lung Cancer Consortium in Asia (FLCCA), the Genetic Epidemiology of Lung Cancer Consortium (GELCC), the Environment and Genetics in Lung cancer Etiology study (EAGLE), Helmholtz-Gemeinschaft Deutscher Forschungszentren Lung Cancer GWAS (GERMAN), the International Agency for Research on Cancer (IARC), the Institute of Cancer Research (ICR), MD Anderson Cancer Center Study (MDACC), NCI Lung Cancer and Smoking Phenotypes in African-American Cases and Controls (NCI), OncoArray Consortium Lung Study (OncoArray), the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial (PLCO), and Samuel Lunenfeld Research Institute Study (SLRI) (Supplementary" . _:225f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association case-control study of lung cancer in the United Kingdom, run at the Institute of Cancer Research, which genotyped lung cancer patients recruited in 1999–2004 through UK oncology centres for the Genetic Lung Cancer Predisposition Study (GELCAPS) and compared them with genotyped controls from the 1958 British Birth Cohort."; "PMID:18715499", "PMID:18978787", "PMID:22899653"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1952; "lung cancer cases and 1958 Birth Cohort controls in the ICR GWA study (2008)"; "PMID:18978787"; rdfs:comment "We conducted a genome-wide association (GWA) study of lung cancer comparing 511,919 SNP genotypes in 1,952 cases and 1,438 controls." . _:22612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1438; "lung cancer cases and 1958 Birth Cohort controls in the ICR GWA study (2008)"; "PMID:18978787"; rdfs:comment "We conducted a genome-wide association (GWA) study of lung cancer comparing 511,919 SNP genotypes in 1,952 cases and 1,438 controls." . _:22622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICR"; . _:22632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICR-GWAS"; . _:22642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICR_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9295, _:genid-371333f489424440b12a13b9d98ced822608-genid9297, _:genid-371333f489424440b12a13b9d98ced822608-genid9299, _:genid-371333f489424440b12a13b9d98ced822608-genid9301; , , ; "GCST90711139"; "A cross-sectional sib-pair study at four factories in Lucknow, Nagpur, Hyderabad and Bangalore in north, central and south India, which in 2005–2007 examined factory workers and their spouses who had migrated from rural areas together with a rural-dwelling sibling of each, and a random sample of urban non-migrant workers and spouses together with an urban-dwelling sibling, to study the effect of rural-to-urban migration on obesity, diabetes and other cardiovascular risk factors."; 6510; "IMS"; ; rdfs:label "Indian Migration Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9295 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9297 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9301 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9295; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20436961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Migrants of rural origin, their rural dwelling sibs, and those of urban origin together with their urban dwelling sibs were assessed by interview, examination, and fasting blood samples." . _:22662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9297; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20436961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Migrants of rural origin, their rural dwelling sibs, and those of urban origin together with their urban dwelling sibs were assessed by interview, examination, and fasting blood samples." . _:22672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9299; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20436961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We tested the hypotheses that rural-to-urban migrants have a higher prevalence of obesity and diabetes than rural nonmigrants, that migrants would have an intermediate prevalence of obesity and diabetes compared with life-long urban and rural dwellers, and that longer time since migration would be associated with a higher prevalence of obesity and of diabetes." . _:22682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9301; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20436961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We tested the hypotheses that rural-to-urban migrants have a higher prevalence of obesity and diabetes than rural nonmigrants, that migrants would have an intermediate prevalence of obesity and diabetes compared with life-long urban and rural dwellers, and that longer time since migration would be associated with a higher prevalence of obesity and of diabetes." . _:22692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32764760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Factory workers and their spouses from four cities in north, central, and south of India, together with their rural-dwelling siblings, were surveyed." . _:226a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90711139"; "Novel genomic variants related to visceral adiposity index (VAI) and body adiposity index (BAI) in Indian sib-pairs."; "PMID:38971891", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38971891+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "2265 sib-pairs from Indian Migration Study were used for examining the association of genetic variants from the Cardio-Metabochip array with VAI, and BAI." . _:226b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional sib-pair study at four factories in Lucknow, Nagpur, Hyderabad and Bangalore in north, central and south India, which in 2005–2007 examined factory workers and their spouses who had migrated from rural areas together with a rural-dwelling sibling of each, and a random sample of urban non-migrant workers and spouses together with an urban-dwelling sibling, to study the effect of rural-to-urban migration on obesity, diabetes and other cardiovascular risk factors."; "PMID:20436961"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:226c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6510; "participants recruited and analysed, 2005-2007"; "PMID:20436961"; rdfs:comment "A total of 6,510 participants (42% women) were recruited." . _:226d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9308; , , ; "GCST90132222"; "A single-centre prospective observational cohort of Japanese patients with rheumatoid arthritis, established in October 2000 at the Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, which registers consenting patients with rheumatoid arthritis treated at the institute and collects patient questionnaires, physician assessments of disease activity and laboratory data twice a year, in April and October."; 14706; "IORRA", "Institute of Rheumatology Rheumatoid Arthritis"; ; rdfs:label "Institute of Rheumatology, Rheumatoid Arthritis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9308 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:226e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9308; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13249915/fullTextXML"; rdfs:comment "The IORRA cohort is a registry of patients with RA at Tokyo Women’s Medical University." . _:226f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17694260+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Improvement of disease activity of rheumatoid arthritis patients from 2000 to 2006 in a large observational cohort study IORRA in Japan." . _:22702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132222"; "Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis."; "PMID:36333501", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01213-w/MediaObjects/41588_2022_1213_MOESM1_ESM.pdf"; rdfs:comment "Institute of Rheumatology, Rheumatoid Arthritis (IORRA). The study was approved by Tokyo Women's Medical University Ethics Committee (#217I)." . _:22712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre prospective observational cohort of Japanese patients with rheumatoid arthritis, established in October 2000 at the Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, which registers consenting patients with rheumatoid arthritis treated at the institute and collects patient questionnaires, physician assessments of disease activity and laboratory data twice a year, in April and October."; "PMID:30188930", "PMID:39017907", "PMID:42050091"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14706; "patients with RA enrolled in the IORRA cohort 2000-2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13249915/fullTextXML"; rdfs:comment "A total of 14,706 patients with RA were enrolled in the IORRA cohort between 2000 and 2021, of whom 6,514 had a disease duration < 4 years." . _:22732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IORRA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9315, _:genid-371333f489424440b12a13b9d98ced822608-genid9317; "GCST90570641"; "An international consortium that meta-analyses genome-wide association data on suicide attempt and suicide death from cohorts worldwide, including cohorts ascertained for psychiatric disorders or substance use, studies of suicide or suicide attempt, and population-based biobanks, to identify genetic risk loci for suicidal behaviour and separate them from those of psychiatric disorders."; 29782; 519961; "ISGC", "International Suicide Genomics Consortium"; ; rdfs:label "International Suicide Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9315 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9315; "suicide attempt"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8851871/unicode"; rdfs:comment "Here, we present the first GWAS meta-analysis of SA from the International Suicide Genetics Consortium (ISGC), including over 29,000 SA or suicide cases from 18 cohorts worldwide." . _:22752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9317; "suicide"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8851871/unicode"; rdfs:comment "Here, we present the first GWAS meta-analysis of SA from the International Suicide Genetics Consortium (ISGC), including over 29,000 SA or suicide cases from 18 cohorts worldwide." . _:22762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90570641"; "Correlates of suicidal behaviors and genetic risk among United States veterans with schizophrenia or bipolar I disorder."; "PMID:38491344", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02472-1/MediaObjects/41380_2024_2472_MOESM1_ESM.docx"; rdfs:comment "(bottom) Forest plot of effect sizes in CSP #572, PGC, and ISGC GWAS." . _:22772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that meta-analyses genome-wide association data on suicide attempt and suicide death from cohorts worldwide, including cohorts ascertained for psychiatric disorders or substance use, studies of suicide or suicide attempt, and population-based biobanks, to identify genetic risk loci for suicidal behaviour and separate them from those of psychiatric disorders."; "PMID:34861974"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 29782; "suicide attempt cases and controls from 18 cohorts in the first ISGC GWAS meta-analysis (2022)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8851871/unicode"; rdfs:comment "The primary SA GWAS included 29,782 cases and 519,961 controls from 18 cohorts (Table 1)." . _:22792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 519961; "suicide attempt cases and controls from 18 cohorts in the first ISGC GWAS meta-analysis (2022)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8851871/unicode"; rdfs:comment "The primary SA GWAS included 29,782 cases and 519,961 controls from 18 cohorts (Table 1)." . _:227a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9324; , ; "GCST90726618"; "A multicentre biorepository for genomic studies of human myocardial disease, led by investigators at the Perelman School of Medicine, University of Pennsylvania, which collects left ventricular tissue from failing hearts at cardiac transplantation and from donor hearts not used for transplantation, at sites including the University of Pennsylvania, the Cleveland Clinic and Stanford, together with genotyped patients with prevalent heart failure referred to a heart failure specialty centre for case-control studies of heart failure."; 1352; "MAGNet", "MAGnet", "Myocardial Applied Genetics Consortium", "Myocardial Applied Genetics Network", "Myocardial Applied Genomics Network study"; ; rdfs:label "Myocardial Applied Genomics Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9324 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:227b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9324; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591478/fullTextXML"; rdfs:comment "Using this consensus protocol, we obtained 1352 human cardiac samples and chose a subset of 313 hearts, including 177 failing hearts collected immediately post transplantation and 136 healthy donor controls that were suitable for transplantation but did not reach a recipient due to logistical reasons (clinical characteristics listed in Supplementary Table 1)." . _:227c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591478/fullTextXML"; rdfs:comment "The institutional review boards at all collection sites (including Stanford, the University of Pennsylvania and the Cleveland Clinic) reviewed and approved the protocols used in this study for procurement and use of human tissue and information." . _:227d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726618"; "Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes."; "PMID:40038546", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985341/supplementaryFiles"; rdfs:comment "MAGNet is a collaborative group of investigators based at Perelman School of Medicine, University of Pennsylvania who use genomic approaches to understand human myocardial disease (http://www.med.upenn.edu/magnet/, NHLBI grant number 1R01HL105993-01A1)." . _:227e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre biorepository for genomic studies of human myocardial disease, led by investigators at the Perelman School of Medicine, University of Pennsylvania, which collects left ventricular tissue from failing hearts at cardiac transplantation and from donor hearts not used for transplantation, at sites including the University of Pennsylvania, the Cleveland Clinic and Stanford, together with genotyped patients with prevalent heart failure referred to a heart failure specialty centre for case-control studies of heart failure."; "PMID:31235787", "PMID:36376295", "PMID:40038546"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:227f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1352; "healthy and failing human hearts harvested (tissue biorepository), 2019"; "PMID:31235787"; rdfs:comment "Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and obtain genome-wide genotyping and gene expression measurements for a subset of 313." . _:22802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAGNet"; . _:22812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAGnet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9332; , ; ; "GCST90502911"; "A case series of patients with atrial fibrillation enrolled at Massachusetts General Hospital, Boston, United States, since 2001, together with affected and unaffected family members of probands with an extensive family history of atrial fibrillation, each assessed at enrolment by a structured interview on medical history, treatment and family history, an electrocardiogram, echocardiogram results and a blood sample; its early-onset cases (onset before age 66) were whole-genome sequenced in the NHLBI TOPMed programme."; 1025; "MGH AF Study", "MGH-AF", "MGH_AF"; ; rdfs:label "Massachusetts General Hospital Atrial Fibrillation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9332 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9332; "atrial fibrillation"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001001"; rdfs:comment "The study has enrolled serial probands, unaffected and affected family members with atrial fibrillation." . _:22832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-025-58420-2/MediaObjects/41467_2025_58420_MOESM1_ESM.pdf"; rdfs:comment "NHLBI TOPMed: Massachusetts General Hospital Atrial Fibrillation Study (MGH_AF)" . _:22842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case series of patients with atrial fibrillation enrolled at Massachusetts General Hospital, Boston, United States, since 2001, together with affected and unaffected family members of probands with an extensive family history of atrial fibrillation, each assessed at enrolment by a structured interview on medical history, treatment and family history, an electrocardiogram, echocardiogram results and a blood sample; its early-onset cases (onset before age 66) were whole-genome sequenced in the NHLBI TOPMed programme."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001001", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001062.v6.p2"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1025; "consented subjects in the parent dbGaP study (phs001001.v1.p1)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001001"; rdfs:comment "Total number of consented subjects: 1025" . _:22862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH-AF"; . _:22872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH_AF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9339; , ; ; "GCST90624093"; "A family study of Alzheimer's disease in the United States in which three academic medical centres (Massachusetts General Hospital, Johns Hopkins University and the University of Alabama at Birmingham) ascertained families with two or more members affected by Alzheimer's disease (mostly affected sibling pairs), together with unaffected relatives, from 1991 through memory disorder clinics, nursing homes and the community, using uniform procedures. It is the Alzheimer's disease collection of the NIMH Human Genetics Initiative, whose data and DNA are shared through the NIMH repository for genetic linkage and association studies."; 1397; "NIMH", "NIMH AD Genetics Initiative", "NIMH Alzheimer's disease Genetics Initiative", "National Institute of Mental Health Alzheimer Disease Genetic Initiative", "National Institute of Mental Health Genetics Initiative Alzheimer's Disease Study Sample"; ; rdfs:label "NIMH Alzheimer's Disease Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9339 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9339; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9008509+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "310 families including 679 subjects with AD by NINCDS/ADRDA and/or Khachaturian criteria and 231 unaffected subjects." . _:22892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2661765/"; rdfs:comment "From 1991 to 1998, the Principal Investigators and Co-Investigators were located at Massachusetts General Hospital, Boston, MA, U01 MH46281; Johns Hopkins University, Baltimore, MD, U01 MH46290; and University of Alabama at Birmingham, Birmingham, AL, U01 MH46373." . _:228a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624093"; "Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses."; "PMID:39998322", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11852348/fullTextXML"; rdfs:comment "Genetic cohorts of clinical AD used for most GWAS, for example, the Alzheimer's Disease Sequencing Project (ADSP) from the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) 5 and the family‐based AD dataset from the National Institute of Mental Health (NIMH), 6 have limited sample size." . _:228b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Alzheimer's disease in the United States in which three academic medical centres (Massachusetts General Hospital, Johns Hopkins University and the University of Alabama at Birmingham) ascertained families with two or more members affected by Alzheimer's disease (mostly affected sibling pairs), together with unaffected relatives, from 1991 through memory disorder clinics, nursing homes and the community, using uniform procedures. It is the Alzheimer's disease collection of the NIMH Human Genetics Initiative, whose data and DNA are shared through the NIMH repository for genetic linkage and association studies."; "PMID:18189239", "PMID:9008509", "https://www.nimh.nih.gov/about/advisory-boards-and-groups/namhc/reports/genetics-and-mental-disorders-report-of-the-national-institute-of-mental-healths-genetics-workgroup"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:228c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1397; "individuals in 437 families with at least two affected siblings (total NIMH AD sample), 2009"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2661765/unicode"; rdfs:comment "The total sample is comprised of 437 independent families with at least two affected siblings, totaling 1,397 individuals." . _:228d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIMH"; . a owl:NamedIndividual, ; , ; "GCST90824080"; "A healthcare-system-based research biobank of NorthShore University HealthSystem (now Endeavor Health) in Illinois, United States, started in 2014, which enrols patients of the health system who consent to give a blood sample for DNA and to linkage of their electronic health records, for translational and discovery research combining genomic and clinical data."; 60000; "GHI", "Genomic Health Initiative at NorthShore University HealthSystem", "Genomic Health Initiative of Endeavor Health", "NSGHI", "North Shore University Health systems Genomic Health Initiative"; ; rdfs:label "Genomic Health Initiative"@en . _:228e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12233176/fullTextXML"; rdfs:comment "The GHI is a US health care-based biobank at Endeavor Health in Illinois." . _:228f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90824080"; "Cross-definition GWAS of IBS in 2.8 million individuals reveals cardiometabolic and triglyceride-linked mechanisms."; "PMID:42425734", "https://gut.bmj.com/content/gutjnl/early/2026/07/01/gutjnl-2026-338800/DC1/embed/inline-supplementary-material-1.pdf?download=true"; rdfs:comment "The Genomic Health Initiative (GHI) is a community-based healthcare biobank established at Endeavor Health (Evanston, Illinois, USA), designed to integrate genomic data with comprehensive EHR." . _:22902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A healthcare-system-based research biobank of NorthShore University HealthSystem (now Endeavor Health) in Illinois, United States, started in 2014, which enrols patients of the health system who consent to give a blood sample for DNA and to linkage of their electronic health records, for translational and discovery research combining genomic and clinical data."; "PMID:38090148", "PMID:40496845", "PMID:41585861"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60000; "participants enrolled, stated as 'more than 60,000' (lower bound), 2026"; "https://gut.bmj.com/content/gutjnl/early/2026/07/01/gutjnl-2026-338800/DC1/embed/inline-supplementary-material-1.pdf?download=true"; rdfs:comment "To date, GHI includes more than 60,000 participants" . _:22922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHI"; . _:22932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSGHI"; . a owl:NamedIndividual, ; , ; , ; "GCST90651078", "MTBLS616"; "A birth cohort of people born in one week in March 1946 in England, Scotland and Wales, selected as a social-class-stratified sample of the singleton births to married mothers that week and followed up repeatedly from birth into old age through home visits, questionnaires and clinic assessments. The oldest of the British national birth cohort studies, it is core-funded by the UK Medical Research Council and has been developed since 2008 by the MRC Unit for Lifelong Health and Ageing at UCL into an interdisciplinary study of ageing."; 5362; "1946 National Birth Cohort", "MRC NSHD", "NSHD", "National Survey of Health and Development"; , ; rdfs:label "MRC National Survey of Health and Development"@en . _:22942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12283345/fullTextXML"; rdfs:comment "NSHD is a population-based prospective birth cohort study whose participants were infants from single births born in England, Scotland and Wales during 1 week in March 1946 (N = 5,362) to women with husbands24." . _:22952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90651078"; "Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry."; "PMID:40335706", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12283345/fullTextXML"; rdfs:comment "We conducted a GWAS meta-analysis of AOW in 70,560 children including data from four European-ancestry cohorts: the Norwegian Mother, Father and Child Cohort Study20,21 (MoBa, N = 58,302), the Netherlands Twin Register22 (NTR, N = 6,251), the Lifelines multigenerational prospective population-based birth cohort study23 from the North of the Netherlands (N = 3,415) and the United Kingdom Medical Research Council National Study for Health and Development24 (NSHD, N = 2,592)." . _:22962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS616"; "A lipidomic human population and translational feeding study of hepatic steatosis and de novo lipogenesis (Human plasma assay)"; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS616"; rdfs:comment "Results: We conducted direct infusion mass spectrometry of lipids in plasma to study the association between specific triacylglycerols (TAGs) and hepatic steatosis assessed by ultrasound and fatty liver index in volunteers from the UK-based Fenland Study (n=1507), and evaluated clustering of TAGs in the National Survey of Health and Development UK cohort (n=1701)." . _:22972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of people born in one week in March 1946 in England, Scotland and Wales, selected as a social-class-stratified sample of the singleton births to married mothers that week and followed up repeatedly from birth into old age through home visits, questionnaires and clinic assessments. The oldest of the British national birth cohort studies, it is core-funded by the UK Medical Research Council and has been developed since 2008 by the MRC Unit for Lifelong Health and Ageing at UCL into an interdisciplinary study of ageing."; "PMID:21345808", "PMID:23637643", "PMID:27995394"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5362; "births in the original social-class-stratified sample, March 1946"; "https://europepmc.org/api/getPdf?pmcid=PMC3637651"; rdfs:comment "Methods The NSHD is based on a social class stratified sample of 5,362 births of all singleton births that occurred within marriage in a week in March 1946 in England, Scotland and Wales." . _:22992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRC NSHD"; . _:229a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSHD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9359, _:genid-371333f489424440b12a13b9d98ced822608-genid9361, _:genid-371333f489424440b12a13b9d98ced822608-genid9363; , ; "GCST90624115"; "A prospective cohort of newborns with Down syndrome enrolled at birth in 18 hospitals in the United Kingdom from 2006 to 2017, screened for GATA1 mutations and followed with serial clinical and haematological data from birth to 4 years of age, to study transient abnormal myelopoiesis, preleukaemic GATA1 mutations and the risk of myeloid leukaemia in children with Down syndrome."; 450; "ODSCS", "Oxford DS Cohort Study"; ; rdfs:label "Oxford Down Syndrome Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9359 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9361 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9363 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:229b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9359; "transient abnormal myelopoiesis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12391799/fullTextXML"; rdfs:comment "The study comprised 434 newborns with DS from the ODSCS, a prospective cohort that enrolled children with DS between 2006 to 2017 from 18 hospitals in the United Kingdom." . _:229c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9361; "Down syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12391799/fullTextXML"; rdfs:comment "The study comprised 434 newborns with DS from the ODSCS, a prospective cohort that enrolled children with DS between 2006 to 2017 from 18 hospitals in the United Kingdom." . _:229d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9363; "myeloid leukemia of Down syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12391799/fullTextXML"; rdfs:comment "The study comprised 434 newborns with DS from the ODSCS, a prospective cohort that enrolled children with DS between 2006 to 2017 from 18 hospitals in the United Kingdom." . _:229e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12391799/fullTextXML"; rdfs:comment "The study comprised 434 newborns with DS from the ODSCS, a prospective cohort that enrolled children with DS between 2006 to 2017 from 18 hospitals in the United Kingdom." . _:229f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624115"; "Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome."; "PMID:40249915", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12391799/fullTextXML"; rdfs:comment "To address the question of why only a subset of DS newborns develop transient leukemia, we performed a comprehensive genetic epidemiology study of GATA1s mutations via whole-genome sequencing (WGS) plus targeted GATA1 sequencing of 434 children with DS in the Oxford Down Syndrome Cohort Study (ODSCS)." . _:22a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of newborns with Down syndrome enrolled at birth in 18 hospitals in the United Kingdom from 2006 to 2017, screened for GATA1 mutations and followed with serial clinical and haematological data from birth to 4 years of age, to study transient abnormal myelopoiesis, preleukaemic GATA1 mutations and the risk of myeloid leukaemia in children with Down syndrome."; "PMID:24021668", "PMID:40249915", "PMID:40407036"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 450; "neonates with Down syndrome studied in the prospective cohort's mature analysis (2025)"; "PMID:40561204"; rdfs:comment "Of 450 neonates with DS, 113 (25%) had GATA1s mutations, among whom 20/113 (17.7%) had multiple mutations and 59 (52%) were clinically silent." . _:22a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ODSCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9370; , ; "GCST90454192"; "A prospective cohort of patients aged 16 or older receiving methadone or buprenorphine–naloxone treatment for opioid use disorder at outpatient clinics of the Canadian Addiction Treatment Centres across Ontario, Canada, recruited by McMaster University researchers from May 2018 to January 2023 as an extension of the Genetics of Opioid Addiction study with a similar protocol. Participants were interviewed at entry, gave a saliva sample for DNA and were followed for up to 12 months through their medical records and urine drug screens, to study biopsychosocial and genetic factors in treatment outcomes."; 3319; "POST"; ; rdfs:label "Pharmacogenetics of Opioid Substitution Treatment Response"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9370 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9370; "opioid use disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40527567+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To be included in the present study, participants had to be at least 16 years of age, have provided written informed consent and be receiving either MMT or bup/nal therapy for OUD." . _:22a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "Briefly, participants (nGENOA = 1536, nPOST = 3319) were recruited from 76 CATC sites across Ontario, Canada (GENOA, 2013–2016, POST, 2018–present)." . _:22a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454192"; "A genome-wide association, polygenic risk score and sex study on opioid use disorder treatment outcomes."; "PMID:38102185", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "Data were collected as part of the GENetics of Opioid Addiction (GENOA) and Pharmacogenetics of Opioid Substitution Treatment Response (POST) programs." . _:22a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of patients aged 16 or older receiving methadone or buprenorphine–naloxone treatment for opioid use disorder at outpatient clinics of the Canadian Addiction Treatment Centres across Ontario, Canada, recruited by McMaster University researchers from May 2018 to January 2023 as an extension of the Genetics of Opioid Addiction study with a similar protocol. Participants were interviewed at entry, gave a saliva sample for DNA and were followed for up to 12 months through their medical records and urine drug screens, to study biopsychosocial and genetic factors in treatment outcomes."; "PMID:32326982", "PMID:33622351", "PMID:38102185", "PMID:40527567"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3319; "participants recruited to POST, 2018 onward (2023)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10724251/fullTextXML"; rdfs:comment "Briefly, participants (nGENOA = 1536, nPOST = 3319) were recruited from 76 CATC sites across Ontario, Canada (GENOA, 2013–2016, POST, 2018–present)." . _:22a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9377; , ; "GCST90454271"; "An occupational cohort of employees of regional companies and government authorities in and around Münster, Germany, who volunteered and underwent a cardiovascular examination in 2000–2007, forming the second part of the Prospective Cardiovascular Münster (PROCAM) Study of cardiovascular risk factors and disease, initiated and conducted by the Leibniz Institute for Arteriosclerosis Research at the University of Münster. Follow-up lapsed until 2018, when the cohort was revived for genotyping, followed by a postal follow-up questionnaire in 2021."; 17312; "PROCAM", "PROCAM-2"; ; rdfs:label "PROCAM-2 Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9377; "cardiovascular disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02688-1/MediaObjects/41380_2024_2688_MOESM1_ESM.pdf"; rdfs:comment "The Prospective Cardiovascular Münster (PROCAM) Study is a large, prospective epidemiological study of cardiovascular risk factors and diseases performed in an occupational cohort." . _:22aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11746137/fullTextXML"; rdfs:comment "The independent studies recruited participants of European descent from the population living in and around the cities of Münster, Marburg, Greifswald and Leipzig, Germany." . _:22ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454271"; "A meta-analysis of genome-wide studies of resilience in the German population."; "PMID:39112778", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11746137/fullTextXML"; rdfs:comment "Briefly, this study included participants with available genotype data and the relevant phenotypic information from the BiDirect Study (N = 1453) [7], the FOR2107 consortium (N = 1789) [8], the PROCAM-2 Study (N = 3879) [9, 10], both SHIP cohorts (SHIP-START/-LEGEND, N = 2230; SHIP-TREND, N = 2330) [11, 12], and the LIFE-Adult-Study (N = 4141) [13, 14]." . _:22ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An occupational cohort of employees of regional companies and government authorities in and around Münster, Germany, who volunteered and underwent a cardiovascular examination in 2000–2007, forming the second part of the Prospective Cardiovascular Münster (PROCAM) Study of cardiovascular risk factors and disease, initiated and conducted by the Leibniz Institute for Arteriosclerosis Research at the University of Münster. Follow-up lapsed until 2018, when the cohort was revived for genotyping, followed by a postal follow-up questionnaire in 2021."; "PMID:38839884", "PMID:39112778"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17312; "employees recruited and examined 2000-2007"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02688-1/MediaObjects/41380_2024_2688_MOESM1_ESM.pdf"; rdfs:comment "For PROCAM-2, 17,312 employees were recruited in more than 50 regional companies and government authorities on a voluntary basis." . _:22ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROCAM"; . _:22af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROCAM-2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9385, _:genid-371333f489424440b12a13b9d98ced822608-genid9387, _:genid-371333f489424440b12a13b9d98ced822608-genid9389, _:genid-371333f489424440b12a13b9d98ced822608-genid9391, _:genid-371333f489424440b12a13b9d98ced822608-genid9393, _:genid-371333f489424440b12a13b9d98ced822608-genid9395, _:genid-371333f489424440b12a13b9d98ced822608-genid9397; , , ; "GCST90020165"; "A multicentre, naturalistic longitudinal study of adults with schizophrenia-spectrum, bipolar or recurrent depressive disorders and of healthy controls, recruited at clinical centres in Germany and Austria from 2011 to 2019 and assessed four times at six-month intervals over 18 months with deep phenotyping, dimensional ratings of psychopathology, cognitive tests and blood sampling, to identify clinical, neurobiological and genetic signatures of the course of major psychiatric disorders across the affective-to-psychotic continuum."; 1320; 466; 1786; "PsyCourse", "PsyCourse study"; ; rdfs:label "PsyCourse Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9385 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9389 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9391 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9393 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9395 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9397 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9385; "brief psychotic disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9387; "bipolar II disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9389; "schizophreniform disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9391; "bipolar I disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9393; "recurrent depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9395; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9397; "schizoaffective disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "We included 1338 genotyped individuals (dataset version 3.0) recruited in different centers in Germany and Austria, comprising patients from the affective-to-psychotic spectrum (377 bipolar I disorder, 100 bipolar II disorder, 420 schizophrenia, 95 schizoaffective disorder, 6 brief psychotic disorder, 9 schizophreniform disorder, and 73 with recurrent depression) and 258 psychiatrically healthy controls." . _:22b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90020165"; "A genome-wide association study of the longitudinal course of executive functions."; "PMID:34247186", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8272719/fullTextXML"; rdfs:comment "In the transdiagnostic PsyCourse Study, comprising patients of the affective-to-psychotic spectrum and controls, we investigated the genetic basis of the time course of two core executive subfunctions: set-shifting (Trail Making Test, part B (TMT-B)) and updating (Verbal Digit Span backwards) in 1338 genotyped individuals." . _:22b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, naturalistic longitudinal study of adults with schizophrenia-spectrum, bipolar or recurrent depressive disorders and of healthy controls, recruited at clinical centres in Germany and Austria from 2011 to 2019 and assessed four times at six-month intervals over 18 months with deep phenotyping, dimensional ratings of psychopathology, cognitive tests and blood sampling, to identify clinical, neurobiological and genetic signatures of the course of major psychiatric disorders across the affective-to-psychotic continuum."; "PMID:30070057", "PMID:39721961"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1320; "clinical and control participants assessed at baseline, 2012-2019 (dataset 6.0)"; "https://data.ub.uni-muenchen.de/390/1/230614_PsyCourse_v6.0.html"; rdfs:comment "Number of participants (clinical and control combined) by recruitment center descT(v1_center) ## 1 2 3 4 5 6 7 10 11 12 13 14 16 18 19 ## [1,] No. cases 19 39 13 5 50 62 32 8 13 36 13 264 378 104 100 ## [2,] Percent 1.1 2.2 0.7 0.3 2.8 3.5 1.8 0.4 0.7 2 0.7 14.8 21.2 5.8 5.6 ## 20 21 22 23 25 ## [1,] 227 147 102 47 127 1786" . _:22bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 466; "clinical and control participants assessed at baseline, 2012-2019 (dataset 6.0)"; "https://data.ub.uni-muenchen.de/390/1/230614_PsyCourse_v6.0.html"; rdfs:comment "Number of participants (clinical and control combined) by recruitment center descT(v1_center) ## 1 2 3 4 5 6 7 10 11 12 13 14 16 18 19 ## [1,] No. cases 19 39 13 5 50 62 32 8 13 36 13 264 378 104 100 ## [2,] Percent 1.1 2.2 0.7 0.3 2.8 3.5 1.8 0.4 0.7 2 0.7 14.8 21.2 5.8 5.6 ## 20 21 22 23 25 ## [1,] 227 147 102 47 127 1786" . _:22bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1786; "clinical and control participants assessed at baseline, 2012-2019 (dataset 6.0)"; "https://data.ub.uni-muenchen.de/390/1/230614_PsyCourse_v6.0.html"; rdfs:comment "Number of participants (clinical and control combined) by recruitment center descT(v1_center) ## 1 2 3 4 5 6 7 10 11 12 13 14 16 18 19 ## [1,] No. cases 19 39 13 5 50 62 32 8 13 36 13 264 378 104 100 ## [2,] Percent 1.1 2.2 0.7 0.3 2.8 3.5 1.8 0.4 0.7 2 0.7 14.8 21.2 5.8 5.6 ## 20 21 22 23 25 ## [1,] 227 147 102 47 127 1786" . _:22bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PsyCourse"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9406, _:genid-371333f489424440b12a13b9d98ced822608-genid9408; ; , ; "GCST90558252"; "A population-based study of cutaneous melanoma in Queensland, Australia, that brings together four earlier population-based studies of melanoma patients conducted in 1987–1995: the Queensland Familial Melanoma Project of adult cases and their families, including twins, and studies of melanoma in children, in adolescents and in men over 50. Their participants and some relatives were re-contacted in 2002–2005 for telephone interviews on sun exposure and phenotype and for blood samples, to investigate genetic and environmental factors, and their interaction, in the aetiology of melanoma."; 3471; "Q-MEGA", "Queensland Study of Melanoma: environmental and genetic associations", "Queensland study of Melanoma: Environment and Genetic Associations", "Queensland study of Melanoma: Environmental and Genetic Associations", "Queensland study of Melanoma: Environmental and Genetics Associations"; ; rdfs:label "Queensland Study of Melanoma: Environmental and Genetic Associations"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9406 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9408 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9406; "cutaneous malignant melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18361720+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This article describes the design and baseline characteristics of Q-MEGA, the Queensland Study of Melanoma: Environmental and Genetic Associations, which followed up 4 population-based samples of CMM patients in Queensland, including children, adolescents, men aged over 50, and a large sample of adult cases and their families, including twins." . _:22bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9408; "sun exposure"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677021/"; rdfs:comment "The principal aim of Q-MEGA is to provide a large and well-described population-based sample of CMM cases and their families, with blood collection for genetic purposes and detailed information on sun exposure and phenotype to explore the effect that environmental and genetic factors, and their interaction, play in the etiology of CMM." . _:22c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677021/"; rdfs:comment "Historic ascertainment of index cases for the four original samples, Queensland study of Melanoma: Environmental and Genetics Associations (Q-MEGA), Queensland, Australia, 1987–2005* *Adolescent: The Study of Melanoma in Adolescents; Childhood: The Queensland Study of Childhood Melanoma; Men over 50: The Study of Men Over 50; QFMP: Queensland Familial Melanoma Project" . _:22c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677021/"; rdfs:comment "Q-MEGA brings together four population-based studies of CMM that were conducted in Queensland, Australia between 1987 and 1995 (Figure 1)." . _:22c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558252"; "Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis."; "PMID:39141363", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39141363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Three genome-wide association study meta-analyses were conducted of in situ melanoma vs controls, invasive melanoma vs controls, and in situ vs invasive melanoma (case-case) using 4 population-based genetic cohorts: the UK Biobank, the FinnGen cohort, the QSkin Sun and Health Study, and the Queensland Study of Melanoma: Environmental and Genetic Associations (Q-MEGA)." . _:22c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of cutaneous melanoma in Queensland, Australia, that brings together four earlier population-based studies of melanoma patients conducted in 1987–1995: the Queensland Familial Melanoma Project of adult cases and their families, including twins, and studies of melanoma in children, in adolescents and in men over 50. Their participants and some relatives were re-contacted in 2002–2005 for telephone interviews on sun exposure and phenotype and for blood samples, to investigate genetic and environmental factors, and their interaction, in the aetiology of melanoma."; "PMID:18361720"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3471; "cases and relatives interviewed in the 2002-2005 follow-up"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677021/"; rdfs:comment "A total of 3,471 subjects were interviewed in the Q-MEGA study." . _:22c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Q-MEGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9416, _:genid-371333f489424440b12a13b9d98ced822608-genid9418, _:genid-371333f489424440b12a13b9d98ced822608-genid9420; , ; "GCST90435254"; "A research biobank of the Royal Brompton and Harefield hospitals in London, United Kingdom, which since 2009 has collected blood and other samples, including cardiac tissue, with clinical, imaging and follow-up data from adult and paediatric patients attending the hospitals for the investigation or treatment of cardiovascular conditions, and from their relatives, to find genes and biomarkers for the diagnosis and prognosis of cardiovascular disease."; 6000; "Cardiovascular Research Centre Biobank, Royal Brompton & Harefield NHS Foundation Trust", "RBH Biobank", "RBH-CRB", "RBHH CRC Biobank", "RBHHCRB", "Royal Brompton & Harefield Hospital Cardiovascular Research Centre Biobank", "Royal Brompton & Harefield Hospitals NHS Trust Cardiovascular Research Biobank", "Royal Brompton Hospital Cardiovascular Research Centre Biobank", "Royal Brompton and Harefield Hospital Cardiovascular Research Centre Biobank"; ; rdfs:label "Royal Brompton & Harefield Cardiovascular Research Centre Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9416 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9418 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9420 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9416; "cardiovascular disease"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/royal-brompton-harefield-cardiovascular-research-centre-biobank/"; rdfs:comment "The Cardiovascular Research Centre Biobank collects samples and associated clinical data from adult and paediatric patients attending Royal Brompton & Harefield NHS Trust for investigation or treatment of cardiovascular conditions." . _:22c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9418; "dilated cardiomyopathy"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/royal-brompton-harefield-cardiovascular-research-centre-biobank/"; rdfs:comment "The Cardiovascular Research Centre Biobank collects samples and associated clinical data from adult and paediatric patients attending Royal Brompton & Harefield NHS Trust for investigation or treatment of cardiovascular conditions." . _:22c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9420; "hypertrophic cardiomyopathy"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/royal-brompton-harefield-cardiovascular-research-centre-biobank/"; rdfs:comment "The Cardiovascular Research Centre Biobank collects samples and associated clinical data from adult and paediatric patients attending Royal Brompton & Harefield NHS Trust for investigation or treatment of cardiovascular conditions." . _:22c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6520377/fullTextXML"; rdfs:comment "Human tissue samples were provided by the Cardiovascular Research Centre Biobank at the Royal Brompton and Harefield NHS Foundation Trust, UK (NRES ethics number for biobank samples: 09/H0504/104 + 5; Biobank approval number: NP001-06-2015 and MED_CT_17_079)." . _:22ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435254"; "Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy."; "PMID:39966646", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906354/supplementaryFiles"; rdfs:comment "Unrelated British HCM cases from the Royal Brompton & Harefield Hospitals NHS Trust Cardiovascular Research Biobank, and healthy controls from the UK Digital Heart Project15 were included." . _:22cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research biobank of the Royal Brompton and Harefield hospitals in London, United Kingdom, which since 2009 has collected blood and other samples, including cardiac tissue, with clinical, imaging and follow-up data from adult and paediatric patients attending the hospitals for the investigation or treatment of cardiovascular conditions, and from their relatives, to find genes and biomarkers for the diagnosis and prognosis of cardiovascular disease."; "PMID:35086919", "PMID:38032570", "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/royal-brompton-harefield-cardiovascular-research-centre-biobank/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6000; "patients and family members who have joined (a lower bound: 'over 6000'), 2019"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/royal-brompton-harefield-cardiovascular-research-centre-biobank/"; rdfs:comment "Over 6000 patients and family members have joined the biobank." . _:22cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RBH Biobank"; . _:22ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RBH-CRB"; . _:22cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RBHH CRC Biobank"; . _:22d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RBHHCRB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9430; , , , , ; , , , , , , ; "GCST90244101"; "A consortium for a genome-wide association study of breast cancer in women of African ancestry in Nigeria, Barbados and the United States, pooling the cases and controls of six epidemiological studies (the Nigerian Breast Cancer Study, the Barbados National Cancer Study, the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study, the Chicago Cancer Prone Study, the Baltimore Breast Cancer Study and the Southern Community Cohort Study), genotyped together on the Illumina HumanOmni2.5 array."; 1657; 2029; 3686; "GWAS in Breast Cancer in the African Diaspora", "GWAS of Breast Cancer in the African Diaspora", "ROOT", "ROOT consortium", "The GWAS of Breast Cancer in the African Diaspora consortium", "The Root consortium"; ; rdfs:label "Genome-Wide Association Study of Breast Cancer in the African Diaspora"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9430 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9430; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29302764+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from the genome-wide association study (GWAS) of breast cancer in the African diaspora (The Root consortium), which included 3686 participants of African ancestry from Nigeria, USA, and Barbados." . _:22d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:22d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:22d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:22d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:22d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:22d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29302764+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from the genome-wide association study (GWAS) of breast cancer in the African diaspora (The Root consortium), which included 3686 participants of African ancestry from Nigeria, USA, and Barbados." . _:22d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244101"; "Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach."; "PMID:35554533", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9476624/"; rdfs:comment "We used data in women of AA from four breast cancer GWAS consortia and the Ghana Breast Health Study (GBHS); the four consortia were: ROOT (The GWAS of Breast Cancer in the African Diaspora consortium), the African American Breast Cancer Epidemiology and Risk (AMBER) consortium, Breast Cancer Association Consortium (BCAC) and African American Breast Cancer consortium (AABC) (see Supplementary Material, Table S1)." . _:22d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium for a genome-wide association study of breast cancer in women of African ancestry in Nigeria, Barbados and the United States, pooling the cases and controls of six epidemiological studies (the Nigerian Breast Cancer Study, the Barbados National Cancer Study, the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study, the Chicago Cancer Prone Study, the Baltimore Breast Cancer Study and the Southern Community Cohort Study), genotyped together on the Illumina HumanOmni2.5 array."; "PMID:28171663", "PMID:29302764", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1657; "cases and controls in the ROOT GWAS after quality control"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5975608/"; rdfs:comment "After these exclusions, a total of 3,686 subjects (1,657 cases and 2,029 controls) were included for the final analysis." . _:22db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2029; "cases and controls in the ROOT GWAS after quality control"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5975608/"; rdfs:comment "After these exclusions, a total of 3,686 subjects (1,657 cases and 2,029 controls) were included for the final analysis." . _:22dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3686; "cases and controls in the ROOT GWAS after quality control"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5975608/"; rdfs:comment "After these exclusions, a total of 3,686 subjects (1,657 cases and 2,029 controls) were included for the final analysis." . _:22dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROOT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9444, _:genid-371333f489424440b12a13b9d98ced822608-genid9446, _:genid-371333f489424440b12a13b9d98ced822608-genid9448, _:genid-371333f489424440b12a13b9d98ced822608-genid9450; , ; "GCST90297564"; "An unselected birth cohort established in 1997 in Aberdeen, United Kingdom, recruiting pregnant women through an antenatal clinic and following their children prospectively from birth, to investigate how antenatal dietary exposures relate to asthma, wheeze and eczema in childhood."; 2000; "Aberdeen Study of Eczema and Asthma To Observe the Effects of Nutrition", "Aberdeen Study of Eczema and Asthma to Observe the Effects of Nutrition", "SEATON", "Study of Eczema and Asthma To Observe the Effects of Nutrition", "Study of Eczema and Asthma to Observe the Influence of Nutrition", "Study of Eczema and Asthma to Observe the influence of Nutrition"; ; rdfs:label "Study of Eczema and Asthma To Observe the influence of Nutrition"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9444 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9446 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9448 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9450 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9444; "maternal antioxidant intake in pregnancy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "SEATON is an unselected birth cohort study established in 1997 in Aberdeen, UK, which was designed to explore the relationship between antenatal dietary exposures and asthma outcomes in childhood (Martindale et al., 2005)." . _:22df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9446; "antenatal dietary exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "SEATON is an unselected birth cohort study established in 1997 in Aberdeen, UK, which was designed to explore the relationship between antenatal dietary exposures and asthma outcomes in childhood (Martindale et al., 2005)." . _:22e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9448; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15531754+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two thousand women were recruited for a prospective investigation of the influence of maternal antioxidant intake in pregnancy on the development of asthma and eczema in children." . _:22e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9450; "eczema"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15531754+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two thousand women were recruited for a prospective investigation of the influence of maternal antioxidant intake in pregnancy on the development of asthma and eczema in children." . _:22e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "SEATON is an unselected birth cohort study established in 1997 in Aberdeen, UK, which was designed to explore the relationship between antenatal dietary exposures and asthma outcomes in childhood (Martindale et al., 2005)." . _:22e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90297564"; "A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifies ANXA1 as a susceptibility locus for persistent wheezing."; "PMID:37227431", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10292845/fullTextXML"; rdfs:comment "The Study Team for Early Life Asthma Research (STELAR) consortium (Custovic et al., 2015) brings together five UK population-based birth cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC) (Golding et al., 2001), Ashford (Cullinan et al., 2004) and Isle of Wight (IOW) (Arshad et al., 2018) cohorts, Manchester Asthma and Allergy Study (MAAS) (Custovic et al., 2002), and the Aberdeen Study of Eczema and Asthma to Observe the Effects of Nutrition (SEATON) (Martindale et al., 2005)." . _:22e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An unselected birth cohort established in 1997 in Aberdeen, United Kingdom, recruiting pregnant women through an antenatal clinic and following their children prospectively from birth, to investigate how antenatal dietary exposures relate to asthma, wheeze and eczema in childhood."; "PMID:15531754", "PMID:37227431"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:22e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "pregnant women recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15531754+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two thousand women were recruited for a prospective investigation of the influence of maternal antioxidant intake in pregnancy on the development of asthma and eczema in children." . _:22e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEATON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9457, _:genid-371333f489424440b12a13b9d98ced822608-genid9459, _:genid-371333f489424440b12a13b9d98ced822608-genid9461; , , , , , , , , , , , , , , , , ; "GCST90132135"; "A multicentre, double-blind, randomised, placebo-controlled phase II trial sponsored by Hoffmann-La Roche and run from 2007 to 2010 at sites in Europe, Israel, South Africa and the United States, in which ex-smokers over 44 years old with smoking-related moderate to severe COPD with emphysema, on optimised COPD therapy, were assigned to the gamma-selective retinoid agonist palovarotene or placebo."; 491; "TESRA", "Treatment Of Emphysema With A Selective Retinoid Agonist", "Treatment of Emphysema With a Gamma-Selective Retinoid Agonist", "Treatment of Emphysema with a Selective Retinoid Agonist", "Treatment of Emphysema with a gamma-Selective Retinoid Agonist"; ; rdfs:label "Treatment of Emphysema with a Gamma-Selective Retinoid Agonist"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9457 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9459 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9461 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9457; "former smokers with COPD"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "TESRA subjects were former smokers with COPD who experienced two or fewer exacerbations requiring outpatient treatment with antibiotics or oral steroids or one exacerbation requiring hospitalization within the prior year." . _:22e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9459; "emphysema"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4198701/fullTextXML"; rdfs:comment "A separate validation cohort of 388 individuals (all former smokers with COPD) was obtained from the Treatment of Emphysema with a Selective Retinoid Agonist (TESRA) study." . _:22e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9461; "COPD"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4198701/fullTextXML"; rdfs:comment "A separate validation cohort of 388 individuals (all former smokers with COPD) was obtained from the Treatment of Emphysema with a Selective Retinoid Agonist (TESRA) study." . _:22ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Sofia, Bulgaria" . _:22eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Praha, Czech Republic" . _:22ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Budapest, Hungary" . _:22ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Reykjavik, Iceland" . _:22ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Tel Aviv, Israel" . _:22ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Modena, Italy" . _:22f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Riga, Latvia" . _:22f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Katowice, Poland" . _:22f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Cape Town, South Africa" . _:22f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Kiev, Ukraine" . _:22f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4302028/fullTextXML"; rdfs:comment "Coventry, United Kingdom" . _:22f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00413205"; rdfs:comment "United States" . _:22f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132135"; "A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts."; "PMID:35769418", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9234425/fullTextXML"; rdfs:comment "Six non-overlapping cohorts contributed to our primary analysis: the Framingham Heart Study (FHS) [21]; Genetic Epidemiology of COPD (COPDGene) [22]; Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points (ECLIPSE) [23]; Treatment of Emphysema with a Gamma-Selective Retinoid Agonist (TESRA) [24]; the Bergen, Norway COPD Cohort, Genetics of Chronic Obstructive Lung Disease (GenKOLS) [25]; and the Subpopulations and Intermediate Outcome Measures in COPD Study (SPIROMICS) [26]." . _:22f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, double-blind, randomised, placebo-controlled phase II trial sponsored by Hoffmann-La Roche and run from 2007 to 2010 at sites in Europe, Israel, South Africa and the United States, in which ex-smokers over 44 years old with smoking-related moderate to severe COPD with emphysema, on optimised COPD therapy, were assigned to the gamma-selective retinoid agonist palovarotene or placebo."; "PMID:25306249", "PMID:25582225", "https://clinicaltrials.gov/api/v2/studies/NCT00413205"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 491; "actual enrolment in the trial (2007-2010)"; "https://clinicaltrials.gov/api/v2/studies/NCT00413205"; rdfs:comment "\"enrollmentInfo\":{\"count\":491,\"type\":\"ACTUAL\"}" . _:22f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TESRA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9479; , ; ; "GCST90002228"; "A single-centre, randomised, double-masked, placebo-controlled trial in which nondiabetic Hispanic women with prior gestational diabetes mellitus, recruited in the Los Angeles area, United States, were assigned to troglitazone or placebo to test whether treating insulin resistance improves insulin sensitivity, preserves pancreatic beta-cell function and prevents type 2 diabetes."; 266; "TRIPOD", "Troglitazone In the Prevention Of Diabetes", "Troglitazone in Prevention of Diabetes", "Troglitazone in the Prevention of Diabetes"; ; rdfs:label "TRoglitazone In the Prevention Of Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9479 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:22fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9479; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9551285+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The primary aim of the TRIPOD trial is to test the hypothesis that chronic administration of troglitazone to nondiabetic women with prior gestational diabetes mellitus (GDM) will improve whole-body insulin sensitivity and reduce the incidence of non-insulin-dependent diabetes (NIDDM)." . _:22fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "TRIPOD recruited non-diabetic women with history of GDM in the Los Angeles area; family members were not recruited." . _:22fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002228"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "Among the Hispanic cohorts, sample sizes ranged from 130 (TRIPOD) to 251 10,065 (SOL) with a minimum imputation score of r2=0.69 and Phet=0.43. 252 20 253 Supplementary Figure 33.Forest plot of FI-associated variant rs13258890." . _:22fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre, randomised, double-masked, placebo-controlled trial in which nondiabetic Hispanic women with prior gestational diabetes mellitus, recruited in the Los Angeles area, United States, were assigned to troglitazone or placebo to test whether treating insulin resistance improves insulin sensitivity, preserves pancreatic beta-cell function and prevents type 2 diabetes."; "PMID:24124113", "PMID:37594959", "PMID:9551285"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:22fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 266; "women randomised"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3263195/fullTextXML"; rdfs:comment "was a randomized, placebo-controlled trial of 266 women with recent gestational diabetes, with 126 completing the treatment of 3.6 years, with an eight-month, post-drug washout period." . _:22ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRIPOD"; . a owl:NamedIndividual, ; , ; "GCST90435254"; "A cohort of healthy adult volunteers without known cardiovascular disease, recruited prospectively by advertisement from 2011 at the MRC Clinical Sciences Centre, Imperial College London, United Kingdom, who underwent standard and high-resolution three-dimensional cardiac magnetic resonance imaging and genotyping, to study the genetic determinants of cardiac structure and function."; 1850; "Digital Heart Project", "UKDHP"; ; rdfs:label "UK Digital Heart Project"@en . _:23002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90435254"; "Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy."; "PMID:39966646", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11906354/supplementaryFiles"; rdfs:comment "Unrelated British HCM cases from the Royal Brompton & Harefield Hospitals NHS Trust Cardiovascular Research Biobank, and healthy controls from the UK Digital Heart Project15 were included." . _:23012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of healthy adult volunteers without known cardiovascular disease, recruited prospectively by advertisement from 2011 at the MRC Clinical Sciences Centre, Imperial College London, United Kingdom, who underwent standard and high-resolution three-dimensional cardiac magnetic resonance imaging and genotyping, to study the genetic determinants of cardiac structure and function."; "PMID:27502059", "PMID:27869827", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5032181/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1850; "healthy volunteers recruited and imaged (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5032181/fullTextXML"; rdfs:comment "Healthy volunteers (n = 1850; 55% females, mean age 41 ± 13 years) were recruited prospectively to the Digital Heart Project and underwent both standard CMR and high-spatial resolution 3D-CMR (Philips 1." . _:23032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKDHP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9490; , , , , ; ; "GCST90301368"; "A double-blind, randomised, multicentre trial run from 1996 to 2003 at 56 hospitals and neurology practices in the United States, Canada and Scotland, in which adults aged 35 or older with a recent nondisabling ischaemic stroke and a screening plasma homocysteine above the 25th percentile received high-dose or low-dose folic acid, vitamin B6 and vitamin B12, to test whether lowering homocysteine prevents recurrent stroke."; 3680; "VISP"; ; rdfs:label "Vitamin Intervention for Stroke Prevention"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9490 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9490; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14762035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "3680 adults with nondisabling cerebral infarction at 56 university-affiliated hospitals, community hospitals, private neurology practices, and Veterans Affairs medical centers across the United States, Canada, and Scotland." . _:23052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14762035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "3680 adults with nondisabling cerebral infarction at 56 university-affiliated hospitals, community hospitals, private neurology practices, and Veterans Affairs medical centers across the United States, Canada, and Scotland." . _:23062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "VISP: The GWAS component of the VISP study was supported by the United States National Human Genome Research Institute (NHGRI), Grant U01 HG005160 (PI Michèle Sale & Bradford Worrall), as part of the Genomics and Randomized Trials Network (GARNET)." . _:23072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A double-blind, randomised, multicentre trial run from 1996 to 2003 at 56 hospitals and neurology practices in the United States, Canada and Scotland, in which adults aged 35 or older with a recent nondisabling ischaemic stroke and a screening plasma homocysteine above the 25th percentile received high-dose or low-dose folic acid, vitamin B6 and vitamin B12, to test whether lowering homocysteine prevents recurrent stroke."; "PMID:11174041", "PMID:14762035"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3680; "adults randomised, September 1996 to May 2003"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14762035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "3680 adults with nondisabling cerebral infarction at 56 university-affiliated hospitals, community hospitals, private neurology practices, and Veterans Affairs medical centers across the United States, Canada, and Scotland." . _:23092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VISP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9497; , , , , , , ; ; "GCST90296719"; "A hospital-based case-control study of breast cancer in women of African ancestry, established in Nigeria in 1998 and expanded to Uganda and Cameroon in 2011 using the same questionnaires and protocol."; 308; 292; "WAABCS"; ; rdfs:label "Women of African Ancestry Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9497 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:230a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9497; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "7.4 Women of African Ancestry Breast Cancer Study (WAABCS) The WAABCS is a hospital-based case-control study originally started in Nigeria in 1998 and was expanded to Uganda and Cameroon in 2011 with the same questionnaires and protocol" . _:230b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The WAABCS is a hospital-based case-control study originally started in Nigeria in 1998 and was expanded to Uganda and Cameroon in 2011 with the same questionnaires and protocol" . _:230c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296719"; "Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction."; "PMID:38741014", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The WAABCS is a hospital-based case-control study originally started in Nigeria in 1998 and was expanded to Uganda and Cameroon in 2011 with the same questionnaires and protocol" . _:230d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in women of African ancestry, established in Nigeria in 1998 and expanded to Uganda and Cameroon in 2011 using the same questionnaires and protocol."; "PMID:38741014"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:230e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 308; "analysed subset only: cases and controls genotyped in the GAME-ON OncoArray consortium after QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "After quality control, we included 308 cases and 292 controls of African ancestry from WAABCS in the OncoArray consortium." . _:230f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 292; "analysed subset only: cases and controls genotyped in the GAME-ON OncoArray consortium after QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "After quality control, we included 308 cases and 292 controls of African ancestry from WAABCS in the OncoArray consortium." . _:23102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAABCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9505, _:genid-371333f489424440b12a13b9d98ced822608-genid9507; , ; , ; "GCST90132188"; "A case-control study of African Americans in North Carolina, South Carolina, Georgia, Tennessee and Virginia, United States, recruited by Wake Forest School of Medicine for genetic studies of type 2 diabetes and nephropathy. Cases with type 2 diabetes and end-stage kidney disease were recruited from dialysis facilities and controls without diabetes or kidney disease from the community and internal medicine clinics, later joined by people with type 2 diabetes but no nephropathy and people with non-diabetic end-stage kidney disease."; 965; 1029; "WFSM", "Wake Forest University School of Medicine Study"; ; rdfs:label "Wake Forest School of Medicine Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9505 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9507 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9505; "end-stage kidney disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; rdfs:comment "Diabetic subjects with type 2 diabetes and end stage renal disease were recruited from dialysis facilities in the southeastern U.S." . _:23122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9507; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; rdfs:comment "Diabetic subjects with type 2 diabetes and end stage renal disease were recruited from dialysis facilities in the southeastern U.S." . _:23132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; rdfs:comment "Diabetic subjects with type 2 diabetes and end stage renal disease were recruited from dialysis facilities in the southeastern U.S." . _:23142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132188"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "Wake Forest School of Medicine (WFSM)." . _:23152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of African Americans in North Carolina, South Carolina, Georgia, Tennessee and Virginia, United States, recruited by Wake Forest School of Medicine for genetic studies of type 2 diabetes and nephropathy. Cases with type 2 diabetes and end-stage kidney disease were recruited from dialysis facilities and controls without diabetes or kidney disease from the community and internal medicine clinics, later joined by people with type 2 diabetes but no nephropathy and people with non-diabetic end-stage kidney disease."; "PMID:22238593", "PMID:31092297", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 965; "analysed subset only: T2DM-ESRD cases and controls in the 2012 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22238593+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls." . _:23172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1029; "analysed subset only: T2DM-ESRD cases and controls in the 2012 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22238593+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls." . _:23182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WFSM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9515; , ; ; "GCST90449045"; "A case-control dataset of the Alzheimer's Disease Genetics Consortium made up of people with late-onset Alzheimer's disease and cognitively normal controls from the University of Miami, Case Western Reserve University and the second wave of the Texas Alzheimer's Research and Care Consortium in the United States."; 256; 189; "MTC", "MTV", "TARCC2", "UM/CWRU/TARCC wave 2", "UM/CWRU/TARCC2"; ; rdfs:label "University of Miami/Texas Alzheimer's Research Care Consortium Wave 2/Case Western Reserve University"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9515 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9515; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "UM/CWRU/TARCC2: The UM/CWRU/TARCC2 sample included 256 cases and 189 controls from the University of Miami, Case Western Reserve University, and the Texas Alzheimer’s Research Care Consortium (wave 2)." . _:231a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "UM/CWRU/TARCC2: The UM/CWRU/TARCC2 sample included 256 cases and 189 controls from the University of Miami, Case Western Reserve University, and the Texas Alzheimer’s Research Care Consortium (wave 2)." . _:231b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449045"; "X-chromosome-wide association study for Alzheimer's disease."; "PMID:39633006", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092188/supplementaryFiles"; rdfs:comment "UM/CWRU/TARCC2: The UM/CWRU/TARCC2 sample included 256 cases and 189 controls from the University of Miami, Case Western Reserve University, and the Texas Alzheimer’s Research Care Consortium (wave 2)." . _:231c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control dataset of the Alzheimer's Disease Genetics Consortium made up of people with late-onset Alzheimer's disease and cognitively normal controls from the University of Miami, Case Western Reserve University and the second wave of the Texas Alzheimer's Research and Care Consortium in the United States."; "PMID:39633006", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0358-2/MediaObjects/41588_2019_358_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:231d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 256; "cases and controls in the ADGC dataset (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "UM/CWRU/TARCC2: The UM/CWRU/TARCC2 sample included 256 cases and 189 controls from the University of Miami, Case Western Reserve University, and the Texas Alzheimer’s Research Care Consortium (wave 2)." . _:231e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 189; "cases and controls in the ADGC dataset (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "UM/CWRU/TARCC2: The UM/CWRU/TARCC2 sample included 256 cases and 189 controls from the University of Miami, Case Western Reserve University, and the Texas Alzheimer’s Research Care Consortium (wave 2)." . _:231f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTC"; . _:23202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTV"; . _:23212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TARCC2"; . _:23222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UM/CWRU/TARCC2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9526, _:genid-371333f489424440b12a13b9d98ced822608-genid9528; , ; ; "GCST90454540"; "A host genetics study of COVID-19 in Mexico, run under the ethics approval of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ) in Mexico City, of genotyped COVID-19 cases and controls of admixed American ancestry who were also asked about long COVID symptoms by telephone questionnaire."; "MexGen-COVID", "MexGenCOVID", "MexGenCOVID Initiative"; ; rdfs:label "MexGen-COVID Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9526 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9528 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9526; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482689/supplementaryFiles"; rdfs:comment "MexGen-COVID Initiative Mexico MexGen-COVID AMR Cases: 55.6 years; Controls: 41.1 years The Ethics Committee of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran (INCMNSZ), Mexico City." . _:23242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9528; "long COVID"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482689/supplementaryFiles"; rdfs:comment "MexGen-COVID Initiative Mexico MexGen-COVID AMR Cases: 55.6 years; Controls: 41.1 years The Ethics Committee of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran (INCMNSZ), Mexico City." . _:23252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482689/supplementaryFiles"; rdfs:comment "MexGen-COVID Initiative Mexico MexGen-COVID AMR Cases: 55.6 years; Controls: 41.1 years The Ethics Committee of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran (INCMNSZ), Mexico City." . _:23262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "For the initial discovery analysis, we used data from the following 24 studies: Avon Longitudinal Study of Parents and Children (ALSPAC), Bonn Study of COVID Genetics (BoSCO), Banque québécoise de la COVID-19 (BQC19), Danish Blood Donor Study (DBDS), Extended Cohort for E-health, Environment and DNA (EXCEED), FinnGen, GCAT | Genomes for life, Genetic Bases of COVID-19 Clinical Variability (GEN-COVID), Genotek, Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19 Task Force (JapanTaskForce), Lifelines, Norwegian Mother, Father and Child Cohort Study (MoBa), Mount Sinai COVID Biobank (MSCIC), Penn Medicine BioBank (PMBB), Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI), Tirschenreuth Study (TiKoCo), TwinsUK, UK Biobank and Understanding Society—UK Household Longitudinal Study." . _:23272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A host genetics study of COVID-19 in Mexico, run under the ethics approval of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ) in Mexico City, of genotyped COVID-19 cases and controls of admixed American ancestry who were also asked about long COVID symptoms by telephone questionnaire."; "PMID:37674002", "PMID:40399555"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MexGen-COVID"; . _:23292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MexGenCOVID"; . _:232a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MexGenCOVID Initiative"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9536, _:genid-371333f489424440b12a13b9d98ced822608-genid9538; , ; ; "GCST90454540"; "A study run by Sano Genetics in the United Kingdom in which participants recruited between 2020 and 2022 gave saliva samples for an at-home DNA test and completed a questionnaire on the Sano Genetics platform about their acute COVID-19 and long COVID symptoms, demographics and other chronic conditions, to study genetic factors influencing long COVID risk and severity."; 1829; "GOLD", "Genetics Of Long Covid", "Genetics of Long COVID study", "Sano GOLD", "Sano Genetics GOLD study"; ; rdfs:label "Genetics of Long COVID"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9536 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9538 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:232b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9536; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10621206/fullTextXML"; rdfs:comment "We compared two subpopulations of long COVID patients from Sano Genetics’ Long COVID GOLD study cohort, focusing on patients with severe or fatigue dominant phenotypes." . _:232c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9538; "long COVID"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10621206/fullTextXML"; rdfs:comment "We compared two subpopulations of long COVID patients from Sano Genetics’ Long COVID GOLD study cohort, focusing on patients with severe or fatigue dominant phenotypes." . _:232d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12063436/fullTextXML"; rdfs:comment "In contrast to the diverse AoU American study cohort, the Sano GOLD study cohort was comprised of British patients of predominantly white European ancestry (> 91% of the cohort), with Asian ancestry (~ 4%) as the largest non-white European demographic." . _:232e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Study of Parents and Children (ALSPAC), Bonn Study of COVID Genetics (BoSCO), Banque québécoise de la COVID-19 (BQC19), Danish Blood Donor Study (DBDS), Extended Cohort for E-health, Environment and DNA (EXCEED), FinnGen, GCAT | Genomes for life, Genetic Bases of COVID-19 Clinical Variability (GEN-COVID), Genotek, Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19 Task Force (JapanTaskForce), Lifelines, Norwegian Mother, Father and Child Cohort Study" . _:232f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study run by Sano Genetics in the United Kingdom in which participants recruited between 2020 and 2022 gave saliva samples for an at-home DNA test and completed a questionnaire on the Sano Genetics platform about their acute COVID-19 and long COVID symptoms, demographics and other chronic conditions, to study genetic factors influencing long COVID risk and severity."; "PMID:37915075", "PMID:40340717", "PMID:40399555"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1829; "subset: participants with a self-reported COVID-19 diagnosis at the time of analysis (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10621206/fullTextXML"; rdfs:comment "At the time of analysis, a total of 1829 individuals in the GOLD study had a self-reported COVID-19 diagnosis." . _:23312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOLD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9545; , , ; ; "GCST90454540"; "A nationwide multicentre consortium of hospitals across Japan led by core academic institutes, established in early 2020, that collects DNA, RNA and plasma with detailed clinical information from patients hospitalised with COVID-19 to study the host genetics of the disease."; 1674; "CGI", "JCTF", "Japan COVID-19 task force", "Japan Coronavirus Taskforce", "JapanTaskForce"; ; rdfs:label "Japan COVID-19 Task Force"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9545 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9545; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34601141+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan COVID-19 Task Force is conducting host genome analysis of hospitalized patients with COVID-19 from more than 70 institutions nationwide in Japan." . _:23332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34601141+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan COVID-19 Task Force is conducting host genome analysis of hospitalized patients with COVID-19 from more than 70 institutions nationwide in Japan." . _:23342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "COVID-19 Clinical Variability (GEN-COVID), Genotek, Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19 Task Force (JapanTaskForce), Lifelines, Norwegian Mother, Father and Child Cohort Study (MoBa), Mount Sinai COVID Biobank (MSCIC), Penn Medicine BioBank (PMBB), Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI), Tirschenreuth Study (TiKoCo), TwinsUK, UK" . _:23352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide multicentre consortium of hospitals across Japan led by core academic institutes, established in early 2020, that collects DNA, RNA and plasma with detailed clinical information from patients hospitalised with COVID-19 to study the host genetics of the disease."; "PMID:34601141", "PMID:35940203"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1674; "hospitalised COVID-19 patients enrolled to date and analysed in the preliminary baseline report (2021)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8482546/fullTextXML"; rdfs:comment "The median (interquartile range) age of the 1674 patients included in the analysis was 59 (45–71) years, and more than half of the patients (66.2%) were male." . _:23372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGI"; . _:23382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JCTF"; . _:23392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JapanTaskForce"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9554, _:genid-371333f489424440b12a13b9d98ced822608-genid9556; , ; , ; "GCST90002228"; "A family study in the Los Angeles area, United States, in which Hispanic family members of probands with type 2 diabetes were recruited to examine the genetic basis of subclinical atherosclerosis and diabetes, with insulin sensitivity measured by euglycaemic clamp."; 188; "NIDDM", "NIDDM-Athero", "NIDDM-Atherosclerosis"; ; rdfs:label "NIDDM-Atherosclerosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9554 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9556 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:233a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9554; "type 2 diabetes"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Family members of probands with T2D were recruited in the Los Angeles area." . _:233b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9556; "subclinical atherosclerosis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Family members of probands with T2D were recruited in the Los Angeles area." . _:233c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3968231/unicode"; rdfs:comment "Family members of probands with T2D were recruited in the Los Angeles area." . _:233d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002228"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "This research was supported by the GUARDIAN Study DK085175 from the (MACAD), HL0697974 (HTN-IR), HL055798 (NIDDM-Atherosclerosis), and DK079888 (work related to insulin clearance in HTN-IR, MACAD and NIDDM-Atherosclerosis)." . _:233e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study in the Los Angeles area, United States, in which Hispanic family members of probands with type 2 diabetes were recruited to examine the genetic basis of subclinical atherosclerosis and diabetes, with insulin sensitivity measured by euglycaemic clamp."; "PMID:24124113", "PMID:34059833"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:233f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 188; "family members in the GUARDIAN analysis (93 pedigrees)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3968231/"; rdfs:comment "Clinical characteristics of the seven cohorts comprising GUARDIAN (mean and standard deviation, or percentage) FSIGT cohorts Clamp cohorts Overall P value BetaGene TRIPOD* IRAS* IRAS Family P value HTN-IR MACAD NIDDM-Athero P value Sample Size 1217 217 194 1040 - 708 772 188 - - Number of Pedigrees 390 217 194 88 - 156 208 93" . _:23402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIDDM"; . _:23412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIDDM-Athero"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9564, _:genid-371333f489424440b12a13b9d98ced822608-genid9566; , ; ; "GCST90704646"; "A Spanish national consortium of research centres and hospitals, created in 2013 under the institutional coverage of the Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), that brings together dementia cohorts to study the genetic architecture of neurodegenerative dementias in the Spanish population."; 6331; 6055; 12386; "DEGESCO", "DEGESGO", "Dementia Genetic Spanish Consortium", "The Dementia Genetic Spanish Consortium"; ; rdfs:label "Dementia Genetics Spanish Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9564 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9566 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9564; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184987/fullTextXML"; rdfs:comment "Additional cases and controls were obtained from dementia cohorts included in the Dementia Genetics Spanish Consortium (DEGESCO)33." . _:23432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9566; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184987/fullTextXML"; rdfs:comment "Additional cases and controls were obtained from dementia cohorts included in the Dementia Genetics Spanish Consortium (DEGESCO)33." . _:23442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Spain: The Dementia Genetic Spanish Consortium (DEGESCO) is a national consortium comprising 23 research centers and hospitals across the country, that holds the institutional coverage of The Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED)." . _:23452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Spain: The Dementia Genetic Spanish Consortium (DEGESCO) is a national consortium comprising 23 research centers and hospitals across the country, that holds the institutional coverage of The Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED)." . _:23462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Spanish national consortium of research centres and hospitals, created in 2013 under the institutional coverage of the Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), that brings together dementia cohorts to study the genetic architecture of neurodegenerative dementias in the Spanish population."; "PMID:34099642", "PMID:42237039"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6331; "AD cases and controls in the GR@ACE/DEGESCO GWAS dataset (2021), including the GR@ACE samples"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8184987/"; rdfs:comment "Polygenic Risk Scores APOE stratification for AD in n = 12,386 biologically independent samples from GR@ACE/DEGESCO." . _:23482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6055; "AD cases and controls in the GR@ACE/DEGESCO GWAS dataset (2021), including the GR@ACE samples"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8184987/"; rdfs:comment "Polygenic Risk Scores APOE stratification for AD in n = 12,386 biologically independent samples from GR@ACE/DEGESCO." . _:23492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12386; "AD cases and controls in the GR@ACE/DEGESCO GWAS dataset (2021), including the GR@ACE samples"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8184987/"; rdfs:comment "Polygenic Risk Scores APOE stratification for AD in n = 12,386 biologically independent samples from GR@ACE/DEGESCO." . _:234a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEGESCO"; . _:234b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEGESGO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9576, _:genid-371333f489424440b12a13b9d98ced822608-genid9578; , ; ; "GCST90454540"; "A biobank of patients hospitalised with COVID-19 at the University Hospital of Ioannina, Greece, genotyped for host genetic studies of COVID-19 and long COVID, with population controls drawn from the Epirus Health Study cohort."; "Covid-19 Ioannina Biobank", "Covid19 Ioannina Biobank", "Ioannina"; ; rdfs:label "COVID-19 Ioannina Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9576 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9578 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:234c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9576; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "Covid-19 Ioannina Biobank Greece Approximately 80 participants returned to the hospital 6 months after their hospitalisation and were administered a symptoms questionnaire (pasted below) among other clinical testing." . _:234d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9578; "long COVID"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "Covid-19 Ioannina Biobank Greece Approximately 80 participants returned to the hospital 6 months after their hospitalisation and were administered a symptoms questionnaire (pasted below) among other clinical testing." . _:234e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "Covid-19 Ioannina Biobank Greece Approximately 80 participants returned to the hospital 6 months after their hospitalisation and were administered a symptoms questionnaire (pasted below) among other clinical testing." . _:234f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "For the initial discovery analysis, we used data from the following 24 studies: Avon Longitudinal Study of Parents and Children (ALSPAC), Bonn Study of COVID Genetics (BoSCO), Banque québécoise de la COVID-19 (BQC19), Danish Blood Donor Study (DBDS), Extended Cohort for E-health, Environment and DNA (EXCEED), FinnGen, GCAT | Genomes for life, Genetic Bases of COVID-19 Clinical Variability (GEN-COVID), Genotek, Genetics of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19 Task Force (JapanTaskForce), Lifelines, Norwegian Mother, Father and Child Cohort Study (MoBa), Mount Sinai COVID Biobank (MSCIC), Penn Medicine BioBank (PMBB), Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI), Tirschenreuth Study (TiKoCo), TwinsUK, UK Biobank and Understanding Society—UK Household Longitudinal Study." . _:23502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of patients hospitalised with COVID-19 at the University Hospital of Ioannina, Greece, genotyped for host genetic studies of COVID-19 and long COVID, with population controls drawn from the Epirus Health Study cohort."; "PMID:37674002", "PMID:40399555"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ioannina"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9584; , ; ; ; "GCST90128530"; "A population-based case-control-family study of breast cancer with an emphasis on early-onset disease, carried out in Melbourne and Sydney, Australia, which enrolled women with a first primary breast cancer identified through cancer registries in 1992-1999, with controls selected from the electoral roll; it is the Australian site of the Breast Cancer Family Registry."; 1610; "ABCFR", "ABCFS", "Australian Breast Cancer Family Registry", "BCFR-AU"; ; rdfs:label "Australian Breast Cancer Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9584 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9584; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Australian Breast Cancer Family Study (ABCFS) is a population-based, case–control-family study of breast cancer with an emphasis on early-onset disease, that was carried out in Melbourne and Sydney, Australia." . _:23532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Australian Breast Cancer Family Study (ABCFS) is a population-based, case–control-family study of breast cancer with an emphasis on early-onset disease, that was carried out in Melbourne and Sydney, Australia." . _:23542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3046454/fullTextXML"; rdfs:comment "The Australian Breast Cancer Family Registry (ABCFR) is a population-based, case control family study of breast cancer with an emphasis on early-onset breast cancer that is being carried out in Melbourne and Sydney, Australia [9-11], and is part of the Breast Cancer Family Registry [12]." . _:23552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Australian Breast Cancer Family Study (ABCFS) is a population-based, case–control-family study of breast cancer with an emphasis on early-onset disease, that was carried out in Melbourne and Sydney, Australia." . _:23562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control-family study of breast cancer with an emphasis on early-onset disease, carried out in Melbourne and Sydney, Australia, which enrolled women with a first primary breast cancer identified through cancer registries in 1992-1999, with controls selected from the electoral roll; it is the Australian site of the Breast Cancer Family Registry."; "PMID:21182766", "PMID:30771221", "PMID:34887416", "PMID:35414113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1610; "breast cancer cases enrolled 1992-1999 (controls not counted in any source read)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3046454/"; rdfs:comment "Overall, we approached 2,303 eligible individuals (ages at diagnosis: <40 years, 1,208; 40-49 years, 551; 50-59 years, 544), which resulted in 1,610 cases, and blood samples were collected from 94% of these cases." . _:23582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCFR"; . _:23592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCFS"; . _:235a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-AU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9594; , , , , ; , , , , ; "GCST90129505"; "A consortium, initiated in 2010, that pools genome-wide genotype data on colorectal cancer cases and cancer-free controls of East Asian ancestry from studies in China, Japan and South Korea, among them the Shanghai Women's and Men's Health Studies and colorectal cancer studies from Shanghai, Guangzhou, Aichi, BioBank Japan and several Korean centres, to identify genetic risk factors for colorectal cancer."; 22775; 47731; "ACCC"; ; rdfs:label "Asia Colorectal Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9594 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:235b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9594; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30529582+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed genetic data from 22,775 patients with CRC (cases) and 47,731 individuals without cancer (controls) from 14 studies in the Asia Colorectal Cancer Consortium." . _:235c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01222-9/MediaObjects/41588_2022_1222_MOESM1_ESM.pdf"; rdfs:comment "Studies (listed with grant support) participating in the Asia Colorectal Cancer Consortium include the Shanghai Women's Health Study (US NIH, R37CA070867, UM1CA182910), the Shanghai Men's Health Study (US NIH, R01CA082729, UM1CA173640), the Shanghai Breast and Endometrial Cancer Studies (US NIH, R01CA064277 and R01CA092585; contributing only controls), the Shanghai Colorectal Cancer Study 3 (US NIH, R37CA070867, R01CA188214 and Anne Potter Wilson Chair funds), the Guangzhou Colorectal Cancer Study" . _:235d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6441622/"; rdfs:comment "Studies (grant support) participating in the Asia Colorectal Cancer Consortium include the Shanghai Women’s Health Study (US NIH, R37CA070867, UM1CA182910), the Shanghai Men’s Health Study (US NIH, R01CA082729, UM1CA173640), the Shanghai Breast and Endometrial Cancer Studies (US NIH, R01CA064277 and R01CA092585; contributing only controls), the Shanghai Colorectal Cancer Study 3 (US NIH, R37CA070867, R01CA188214 and Anne Potter Wilson Chair funds), the Guangzhou Colorectal Cancer Study (National Key Scientific and Technological Project, 2011ZX09307001–04; the National Basic Research Program, 2011CB504303, contributing only controls, the Natural Science Foundation of China, 81072383, contributing only controls), the Hwasun Cancer Epidemiology Study–Colon and Rectum Cancer (HCES-CRC; grants from Chonnam National University Hwasun Hospital Biomedical Research Institute (HCRI18007), the Japan BioBank Colorectal Cancer Study (grant from the Ministry of Education, Culture, Sports, Science and Technology of the Japanese government), the Aichi Colorectal Cancer Study (Grant-in-Aid for Cancer Research, grant for the Third Term Comprehensive Control Research for Cancer and Grants-in-Aid for Scientific Research from the Japanese Ministry of Education, Culture, Sports, Science and Technology, 17015018 and 221S0001), the Korea-NCC (National Cancer Center) Colorectal Cancer Study" . _:235e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9509464/"; rdfs:comment "Studies (listed with grant support) participating in the Asia Colorectal Cancer Consortium include the Shanghai Women's Health Study (US NIH, R37CA070867, UM1CA182910), the Shanghai Men's Health Study (US NIH, R01CA082729, UM1CA173640), the Shanghai Breast and Endometrial Cancer Studies (US NIH, R01CA064277 and R01CA092585; contributing only controls), the Shanghai Colorectal Cancer Study 3 (US NIH, R37CA070867, R01CA188214 and Anne Potter Wilson Chair funds), the Guangzhou Colorectal Cancer Study (National Key Scientific and Technological Project, 2011ZX09307-001-04; the National Basic Research Program, 2011CB504303, contributing only controls, the Natural Science Foundation of China, 81072383, contributing only controls), the Hwasun Cancer Epidemiology Study–Colon and Rectum Cancer (HCES-CRC; grants from Chonnam National University Hwasun Hospital Biomedical Research Institute, HCRI18007)" . _:235f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/ng.2985"; rdfs:comment "Studies (grant support) participating in the Asia Colorectal Cancer Consortium include the Shanghai Women's Health Study (US NIH, R37CA070867), the Shanghai Men's Health Study (US NIH, R01CA082729), the Shanghai Breast and Endometrial Cancer Studies (US NIH, R01CA064277 and R01CA092585; contributing only controls), Shanghai Colorectal Cancer Study 3 (US NIH, R37CA070867 and Ingram Professorship funds), the Guangzhou Colorectal Cancer Study (National Key Scientific and Technological Project, 2011ZX09307-001-04; the National Basic Research Program, 2011CB504303, contributing only controls; the Natural Science Foundation of China, 81072383, contributing only controls), the Japan BioBank Colorectal Cancer Study (grant from the Ministry of Education, Culture, Sports, Science and Technology of the Japanese government), the Hwasun Cancer Epidemiology Study–Colon and Rectum Cancer (HCES-CRC; grants from the Korea Center for Disease Control and Prevention and the Jeonnam Regional Cancer Center), the Aichi Colorectal Cancer Study (Grant-in-Aid for Cancer Research, grant for the Third Term Comprehensive Control Research for Cancer and Grants-in-Aid for Scientific Research from the Japanese Ministry of Education, Culture, Sports, Science and Technology, 17015018 and 221S0001), the Korea-NCC (National Cancer Center) Colorectal Cancer Study (Basic Science Research Program through the National Research Foundation of Korea, 2010-0010276; National Cancer Center Korea, 0910220), the Korea-Seoul Colorectal Cancer Study (none reported)" . _:23602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9509464/"; rdfs:comment "Shanghai Studies (Shanghai-1,2,3) Chinese 3,303 4,612 50.2 85.0 61.3 ± 8.52 54.7 ± 9.60" . _:23612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6441622/"; rdfs:comment "Included in the current study are 22,775 CRC cases and 47,731 controls of East-Asian ancestry from 14 studies conducted in China, Japan, and South Korea (Supplementary Notes, Supplementary Figure 1 and Supplementary Table 1)." . _:23622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129505"; "Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries."; "PMID:36539618", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01222-9/MediaObjects/41588_2022_1222_MOESM1_ESM.pdf"; rdfs:comment "The Asia Colorectal Cancer Consortium is primarily funded by R01 CA188214 from US National Institutes of Health." . _:23632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium, initiated in 2010, that pools genome-wide genotype data on colorectal cancer cases and cancer-free controls of East Asian ancestry from studies in China, Japan and South Korea, among them the Shanghai Women's and Men's Health Studies and colorectal cancer studies from Shanghai, Guangzhou, Aichi, BioBank Japan and several Korean centres, to identify genetic risk factors for colorectal cancer."; "PMID:30529582", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01222-9/MediaObjects/41588_2022_1222_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22775; "colorectal cancer cases and controls from 14 studies in the 2019 East Asian GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6441622/"; rdfs:comment "Included in the current study are 22,775 CRC cases and 47,731 controls of East-Asian ancestry from 14 studies conducted in China, Japan, and South Korea (Supplementary Notes, Supplementary Figure 1 and Supplementary Table 1)." . _:23652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 47731; "colorectal cancer cases and controls from 14 studies in the 2019 East Asian GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6441622/"; rdfs:comment "Included in the current study are 22,775 CRC cases and 47,731 controls of East-Asian ancestry from 14 studies conducted in China, Japan, and South Korea (Supplementary Notes, Supplementary Figure 1 and Supplementary Table 1)." . _:23662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9607, _:genid-371333f489424440b12a13b9d98ced822608-genid9609; , ; ; "GCST90854196"; "A clinical trials network founded in 1987 as a cooperative group of the US National Institute of Allergy and Infectious Diseases, the largest and longest-running network of trials in HIV and other infectious diseases, now with sites on four continents. Participants of its trials may give DNA to its DNA bank (protocol A5128) for genetic studies, and treatment-naive participants with advanced HIV disease from its antiviral treatment trials were the progressors of the International HIV Controllers Study genome-wide association study."; "ACTG"; ; rdfs:label "AIDS Clinical Trials Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9607 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9609 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9607; "HIV infection"; "https://actgnetwork.org/about/"; rdfs:comment "ACTG is the world’s largest and longest running clinical trials network focused on HIV and other infectious diseases and the people living with them." . _:23682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9609; "AIDS"; "https://actgnetwork.org/about/"; rdfs:comment "ACTG is the world’s largest and longest running clinical trials network focused on HIV and other infectious diseases and the people living with them." . _:23692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A3044083+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To address many of these issues in the United States, the Federal Government has established an AIDS Clinical Trials Group (ACTG) program." . _:236a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90854196"; "Multiancestry sex-stratified genomic associations with HIV viral load and controller status from the ICGH."; "PMID:37097752", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10393222/fullTextXML"; rdfs:comment "We additionally used a binary definition of HIV spontaneous control in the subset of samples obtained from the International HIV Controllers Study and the AIDS Clinical Trials Group (Supplemental Table 1) (17)." . _:236b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical trials network founded in 1987 as a cooperative group of the US National Institute of Allergy and Infectious Diseases, the largest and longest-running network of trials in HIV and other infectious diseases, now with sites on four continents. Participants of its trials may give DNA to its DNA bank (protocol A5128) for genetic studies, and treatment-naive participants with advanced HIV disease from its antiviral treatment trials were the progressors of the International HIV Controllers Study genome-wide association study."; "PMID:14583845", "PMID:21051598", "PMID:2671281", "https://actgnetwork.org/about/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:236c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACTG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9615; , ; "GCST90705064"; "A UK genetic cohort study, run by the Preventive Neurology Unit of Queen Mary University of London and recruiting since November 2021, of adults with multiple sclerosis from diverse, mostly non-European, ancestral backgrounds, enrolled online, at clinical sites and through the UK MS Register, who give saliva DNA for genotyping, questionnaire data and consent to health-record linkage, to study the genetics of multiple sclerosis susceptibility and severity; it has no controls of its own."; 682; "A Genetic Association study in Diverse Ancestries of Multiple Sclerosis", "ADAMS", "ADAMS project"; ; rdfs:label "genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9615 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:236d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9615; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10193065/fullTextXML"; rdfs:comment "The genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis (ADAMS) project aims to gather genetic and phenotypic data on a large cohort of ancestrally-diverse individuals with MS living in the UK." . _:236e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10193065/fullTextXML"; rdfs:comment "The genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis (ADAMS) project aims to gather genetic and phenotypic data on a large cohort of ancestrally-diverse individuals with MS living in the UK." . _:236f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90705064"; "Genetic Determinants of Multiple Sclerosis Susceptibility in People From Diverse Ancestral Backgrounds."; "PMID:41791023", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41791023+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited and genotyped a cohort of ancestrally diverse people with MS (pwMS) from across the United Kingdom." . _:23702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK genetic cohort study, run by the Preventive Neurology Unit of Queen Mary University of London and recruiting since November 2021, of adults with multiple sclerosis from diverse, mostly non-European, ancestral backgrounds, enrolled online, at clinical sites and through the UK MS Register, who give saliva DNA for genotyping, questionnaire data and consent to health-record linkage, to study the genetics of multiple sclerosis susceptibility and severity; it has no controls of its own."; "PMID:37197821"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 682; "people with MS recruited by 3 January 2023 (recruitment ongoing)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10193065/fullTextXML"; rdfs:comment "As of 3 January 2023, we have recruited 682 participants (n=446 via the website, n=55 in person at clinical sites and n=181 via the UKMSR)." . _:23722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADAMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9622; , , ; "GCST90243990"; "A randomised, open-label, investigator-led phase 3 non-inferiority trial of first-line antiretroviral therapy, run by the University of the Witwatersrand (study WRHI 060) at sites in Johannesburg, South Africa, which from February 2017 randomised people aged 12 years or older with HIV-1 who had not received antiretroviral therapy in the previous 6 months to dolutegravir and emtricitabine with either tenofovir alafenamide or tenofovir disoproxil fumarate, or to efavirenz, tenofovir disoproxil fumarate and emtricitabine, and followed them for 96 weeks, later extended to 192 weeks."; "The acronym ADVANCE also denotes Atherosclerotic Disease, Vascular Function, and Genetic Epidemiology Study (COHO:0001053) and Action in Diabetes and Vascular disease: Preterax and Diamicron-MR Controlled Evaluation (COHO:0001474); this term is ADVANCE trial."@en; 1053; "ADVANCE", "ADVANCE Study of DTG + TAF + FTC vs DTG + TDF + FTC and EFV + TDF+FTC in First-line Antiretroviral Therapy", "WRHI 060"; ; rdfs:label "ADVANCE trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9622 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9622; "HIV-1 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9624457/fullTextXML"; rdfs:comment "The ADVANCE study in South Africa was a phase 3 clinical trial (clinicaltrial.gov NCT03122262) in which 1,053 HIV-positive, ART-naïve participants were randomly assigned to one of three treatment arms: 1) dolutegravir, tenofovir alafenamide (TAF) and emtricitabine; 2) dolutegravir, tenofovir disoproxil fumarate (TDF) and emtricitabine; or 3) efavirenz, TDF and emtricitabine (8)." . _:23742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35512135+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We characterized the pharmacogenetics of dolutegravir exposure after ART initiation in the ADVANCE trial in South Africa." . _:23752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243990"; "Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus."; "PMID:35512135", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35512135+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We characterized the pharmacogenetics of dolutegravir exposure after ART initiation in the ADVANCE trial in South Africa." . _:23762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, open-label, investigator-led phase 3 non-inferiority trial of first-line antiretroviral therapy, run by the University of the Witwatersrand (study WRHI 060) at sites in Johannesburg, South Africa, which from February 2017 randomised people aged 12 years or older with HIV-1 who had not received antiretroviral therapy in the previous 6 months to dolutegravir and emtricitabine with either tenofovir alafenamide or tenofovir disoproxil fumarate, or to efavirenz, tenofovir disoproxil fumarate and emtricitabine, and followed them for 96 weeks, later extended to 192 weeks."; "PMID:31339677", "https://clinicaltrials.gov/api/v2/studies/NCT03122262"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1053; "participants randomised February 2017 to May 2018"; "PMID:31339677"; rdfs:comment "A total of 1053 patients underwent randomization from February 2017 through May 2018." . _:23782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADVANCE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9629; , ; ; "GCST003116"; "A multi-ethnic case-control genetic association study of coronary artery disease by Stanford University and Kaiser Permanente Northern California, which from October 2001 to December 2003 enrolled Kaiser Permanente members in the San Francisco Bay area into three case groups (early-onset coronary artery disease, and incident stable exertional angina or myocardial infarction at an older age) and two control groups free of clinical cardiovascular disease (younger adults, including some CARDIA participants, and adults aged 60 to 69), with questionnaires, stored blood samples, cardiac computed tomography in older controls and later follow-up through health plan records."; "The acronym ADVANCE also denotes ADVANCE trial (COHO:0001052) and Action in Diabetes and Vascular disease: Preterax and Diamicron-MR Controlled Evaluation (COHO:0001474); this term is Atherosclerotic Disease, Vascular Function, and Genetic Epidemiology Study."@en; 3179; "ADVANCE", "Atherosclerotic Disease VAscular functioN and genetiC Epidemiology study", "Atherosclerotic Disease, VAscular FunctioN, and GenetiC Epidemiology", "Atherosclerotic Disease, VAscular functioN, and genetiC Epidemiology", "Atherosclerotic Disease, Vascular function, and Genetic Epidemiology"; ; rdfs:label "Atherosclerotic Disease, Vascular Function, and Genetic Epidemiology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9629 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9629; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3180367/fullTextXML"; rdfs:comment "Adult members of Kaiser between the ages of 45 to 75 years with no prior history of CHD who first presented with new symptoms of CHD (either stable exertional angina or acute myocardial infarction) between October 28, 2001 and December 31, 2003 were enrolled into the Atherosclerotic Disease, VAscular functioN, and genetiC Epidemiology (ADVANCE) Study [23]." . _:237a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4589895/supplementaryFiles"; rdfs:comment "Briefly, between October 28, 2001 and December 31, 2003, 3,179 member of the Kaiser Permanente of Northern California health maintenance organization were enrolled into three CAD groups and two control groups." . _:237b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003116"; "A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease."; "PMID:26343387", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4589895/supplementaryFiles"; rdfs:comment "Detailed descriptions of the eligibility criteria and the source population for all groups in the multi ethnic ADVANCE study are provided elsewhere" . _:237c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-ethnic case-control genetic association study of coronary artery disease by Stanford University and Kaiser Permanente Northern California, which from October 2001 to December 2003 enrolled Kaiser Permanente members in the San Francisco Bay area into three case groups (early-onset coronary artery disease, and incident stable exertional angina or myocardial infarction at an older age) and two control groups free of clinical cardiovascular disease (younger adults, including some CARDIA participants, and adults aged 60 to 69), with questionnaires, stored blood samples, cardiac computed tomography in older controls and later follow-up through health plan records."; "PMID:18413559", "PMID:18443000", "PMID:21917174", "PMID:27030599"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:237d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3179; "Kaiser Permanente members enrolled into three case and two control groups, 2001-2003"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Briefly, between October 28, 2001 and December 31, 2003, 3,179 member of the Kaiser Permanente of Northern California health maintenance organization were enrolled into three CAD groups and two control groups." . _:237e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADVANCE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9636, _:genid-371333f489424440b12a13b9d98ced822608-genid9638, _:genid-371333f489424440b12a13b9d98ced822608-genid9640, _:genid-371333f489424440b12a13b9d98ced822608-genid9642, _:genid-371333f489424440b12a13b9d98ced822608-genid9644, _:genid-371333f489424440b12a13b9d98ced822608-genid9646, _:genid-371333f489424440b12a13b9d98ced822608-genid9648, _:genid-371333f489424440b12a13b9d98ced822608-genid9650; , ; ; "GCST90559231"; "A population-based cohort of elderly residents of Bordeaux, France, recruited from 2006 as an ophthalmological follow-up nested within the Three-City Study, assessing associations between eye diseases such as age-related macular degeneration and nutritional factors through plasma measurements, dietary-intake estimation and repeated eye examinations."; 963; "ALIENOR", "Alienor", "Antioxydants Lipides Essentiels Nutrition et Maladies Oculaires", "Antioxydants, LIpides Essentiels, Nutrition et maladies OculaiRes"; ; rdfs:label "Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9640 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9642 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9644 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9646 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9648 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9650 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:237f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9636; "antioxidants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21125205+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Alienor (Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes) Study aims at assessing the associations of eye diseases with nutritional factors, determined from plasma measurements and estimation of dietary intakes." . _:23802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9638; "nutritional factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21125205+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Alienor (Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes) Study aims at assessing the associations of eye diseases with nutritional factors, determined from plasma measurements and estimation of dietary intakes." . _:23812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9640; "lutein and zeaxanthin"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21125205+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Alienor (Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes) Study aims at assessing the associations of eye diseases with nutritional factors, determined from plasma measurements and estimation of dietary intakes." . _:23822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9642; "omega 3 polyunsaturated fatty acids"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21125205+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Alienor (Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes) Study aims at assessing the associations of eye diseases with nutritional factors, determined from plasma measurements and estimation of dietary intakes." . _:23832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9644; "glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26084364+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes (ALIENOR) is a population-based study on eye diseases performed in elderly residents of Bordeaux, France." . _:23842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9646; "cataract"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26084364+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes (ALIENOR) is a population-based study on eye diseases performed in elderly residents of Bordeaux, France." . _:23852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9648; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26084364+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes (ALIENOR) is a population-based study on eye diseases performed in elderly residents of Bordeaux, France." . _:23862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9650; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26084364+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes (ALIENOR) is a population-based study on eye diseases performed in elderly residents of Bordeaux, France." . _:23872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26084364+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Antioxydants, Lipides Essentiels, Nutrition et maladies OculaiRes (ALIENOR) is a population-based study on eye diseases performed in elderly residents of Bordeaux, France." . _:23882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40808916+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ALIENOR study included 963 participants aged ≥73 years from the Three-City (3C) study in Bordeaux, for an ophthalmic follow-up." . _:23892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559231"; "HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement."; "PMID:41361163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "The Alienor cohort was funded by Laboratoires Théa (Clermont-Ferrand, France), Université de Bordeaux (Bordeaux, France), Fondation Voir et Entendre (Paris, France), Agence Nationale de la Recherche (2010-PRSP-011), CFSR Recherche (Club Francophone des Spécialistes de la Rétine), the French Ministry of Health (PHRC, 2012, PHRC12_157 ECLAIR) and CNSA (Caisse Nationale pour la Solidarité et l’Autonomie) (Paris, France)." . _:238a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of elderly residents of Bordeaux, France, recruited from 2006 as an ophthalmological follow-up nested within the Three-City Study, assessing associations between eye diseases such as age-related macular degeneration and nutritional factors through plasma measurements, dietary-intake estimation and repeated eye examinations."; "PMID:21125205", "PMID:26084364", "PMID:34203817", "PMID:40808916"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:238b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 963; "3C Bordeaux participants who had the baseline eye examination, 2006-2008"; "PMID:34203817"; rdfs:comment "Alienor study is a prospective population-based cohort of 963 residents of Bordeaux, France, who were 73 years or older at baseline (2006-2008)." . _:238c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALIENOR"; . _:238d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alienor"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9659; , ; "GCST90104085"; "A case-control sample assembled by a consortium of twelve US autopsy centres, several of them Morris K. Udall Centers of Excellence in Parkinson's Disease Research, of people clinically diagnosed with Parkinson's disease whose diagnosis was confirmed at autopsy (nigral neuronal loss and Lewy bodies, with little Alzheimer pathology) and of neuropathologically normal controls, often patients' spouses, genotyped genome-wide at the Center for Inherited Disease Research to find genetic risk factors for Parkinson's disease with less diagnostic misclassification."; 977; "APDGC", "Autopsy-Confirmed PD GWAS Consortium", "Autopsy-Confirmed Parkinson Disease Genetics Consortium", "Autopsy-confirmed Parkinson Disease GWAS Consortium"; ; rdfs:label "Autopsy-Confirmed Parkinson Disease GWAS Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9659 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:238e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9659; "Parkinson's disease"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000394.v1.p1"; rdfs:comment "The APDGC was formed to conduct a genome-wide association study in individuals with neuropathologically confirmed Parkinson Disease (PD) and neuropathologically normal controls." . _:238f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000394.v1.p1"; rdfs:comment "University of Miami, Morris K. Udall Center of Excellence in Parkinson's Disease Research, Miami, FL, USA." . _:23902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104085"; "Common X-Chromosome Variants Are Associated with Parkinson Disease Risk."; "PMID:33583074", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8601399/unicode"; rdfs:comment "The PD cohorts include the International PD Genomics Consortium (IPDGC) NeuroX dataset, the National Institute of Neurological Disorders and Stroke (NINDS) PD dataset, the Autopsy-Confirmed PD GWAS Consortium (APDGC) dataset genotyped by the Center for Inherited Disease Research, the NeuroGenetics Research Consortium (NGRC) dataset, the UK PD Consortium, and the Wellcome Trust Case Control Consortium 2, referred to here as EBI MERGE." . _:23912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample assembled by a consortium of twelve US autopsy centres, several of them Morris K. Udall Centers of Excellence in Parkinson's Disease Research, of people clinically diagnosed with Parkinson's disease whose diagnosis was confirmed at autopsy (nigral neuronal loss and Lewy bodies, with little Alzheimer pathology) and of neuropathologically normal controls, often patients' spouses, genotyped genome-wide at the Center for Inherited Disease Research to find genetic risk factors for Parkinson's disease with less diagnostic misclassification."; "PMID:25663231", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000394.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 977; "consented subjects deposited in dbGaP (genotyped samples)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000394.v1.p1"; rdfs:comment "Total number of consented subjects: 977" . _:23932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APDGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9666, _:genid-371333f489424440b12a13b9d98ced822608-genid9668, _:genid-371333f489424440b12a13b9d98ced822608-genid9670, _:genid-371333f489424440b12a13b9d98ced822608-genid9672, _:genid-371333f489424440b12a13b9d98ced822608-genid9674, _:genid-371333f489424440b12a13b9d98ced822608-genid9676, _:genid-371333f489424440b12a13b9d98ced822608-genid9678, _:genid-371333f489424440b12a13b9d98ced822608-genid9680; , , , , , , , , , , ; ; "GCST90085699"; "A multicentre case-control study of upper aerodigestive tract cancers (oral cavity, pharynx, larynx and oesophagus), initiated by the International Agency for Research on Cancer in 2002, that recruited newly diagnosed cases and hospital controls (population controls in the United Kingdom) at centres in about ten European countries, mostly in 2002-2005, with interviews on smoking, drinking and diet and biological samples, to study genetic susceptibility to these cancers and its interplay with lifestyle factors."; 2304; 2227; "ARCAGE", "ARCGSES", "Alcohol Related CAncers and Genetic susceptibility in Europe", "Alcohol Related Cancers and Genetic Susceptibility in Europe Study", "Alcohol-Related Cancers and Genetic Susceptibility Study in Europe", "Alcohol-Related Cancers and Genetic Susceptibility in Europe", "Alcohol-related cancers and genetic susceptibility in Europe"; ; rdfs:label "Alcohol-Related Cancers and Genetic susceptibility in Europe"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9666 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9668 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9670 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9672 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9674 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9676 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9678 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9680 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9666; "cancer of the larynx"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20506380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from 2,048 cases and 2,173 hospital- and population-based controls from ten European countries (alcohol-related cancers and genetic susceptibility in Europe study) to investigate the relationship with BMI and adult change in BMI on UADT cancer risk." . _:23952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9668; "upper aerodigestive tract cancers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20506380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from 2,048 cases and 2,173 hospital- and population-based controls from ten European countries (alcohol-related cancers and genetic susceptibility in Europe study) to investigate the relationship with BMI and adult change in BMI on UADT cancer risk." . _:23962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9670; "cancer of the oral cavity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20506380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from 2,048 cases and 2,173 hospital- and population-based controls from ten European countries (alcohol-related cancers and genetic susceptibility in Europe study) to investigate the relationship with BMI and adult change in BMI on UADT cancer risk." . _:23972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9672; "cancer of the pharynx"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20506380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from 2,048 cases and 2,173 hospital- and population-based controls from ten European countries (alcohol-related cancers and genetic susceptibility in Europe study) to investigate the relationship with BMI and adult change in BMI on UADT cancer risk." . _:23982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9674; "cancer of the esophagus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20506380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data from 2,048 cases and 2,173 hospital- and population-based controls from ten European countries (alcohol-related cancers and genetic susceptibility in Europe study) to investigate the relationship with BMI and adult change in BMI on UADT cancer risk." . _:23992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9676; "consumption of alcoholic beverages"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18830131+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Moreover, the role of pattern of smoking and drinking, as well as the exact nature of the implicated dietary variables, has not been clarified. To address these issues, the International Agency for Research on Cancer initiated in 2002 the alcohol-related cancers and genetic susceptibility (ARCAGE) in Europe project, with the participation of 15 centers in 11 European countries." . _:239a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9678; "intake of vegetables and fruits"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18830131+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Moreover, the role of pattern of smoking and drinking, as well as the exact nature of the implicated dietary variables, has not been clarified. To address these issues, the International Agency for Research on Cancer initiated in 2002 the alcohol-related cancers and genetic susceptibility (ARCAGE) in Europe project, with the participation of 15 centers in 11 European countries." . _:239b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9680; "tobacco smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18830131+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Moreover, the role of pattern of smoking and drinking, as well as the exact nature of the implicated dietary variables, has not been clarified. To address these issues, the International Agency for Research on Cancer initiated in 2002 the alcohol-related cancers and genetic susceptibility (ARCAGE) in Europe project, with the participation of 15 centers in 11 European countries." . _:239c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4183506/"; rdfs:comment "Recruitment was conducted from 2002 to 2005 for all centers, except for the French center, where recruitment was conducted during 1987 to 1992." . _:239d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8511029/supplementaryFiles"; rdfs:comment "Alcohol-Related Cancers and Genetic susceptibility in Europe (ARCAGE) Croatia, Czech Republic, Germany, Greece, Ireland, Italy, Norway, Spain, UK" . _:239e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90085699"; "Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer."; "PMID:34642315", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8511029/fullTextXML"; rdfs:comment "The Alcohol-Related Cancers and Genetic Susceptibility Study in Europe (ARCAGE) was funded by the European Commission’s fifth framework program (QLK1-2001-00182), the Italian Association for Cancer Research, Compagnia di San Paolo/FIRMS, Region Piemonte and Padova University (CPDA057222)." . _:239f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of upper aerodigestive tract cancers (oral cavity, pharynx, larynx and oesophagus), initiated by the International Agency for Research on Cancer in 2002, that recruited newly diagnosed cases and hospital controls (population controls in the United Kingdom) at centres in about ten European countries, mostly in 2002-2005, with interviews on smoking, drinking and diet and biological samples, to study genetic susceptibility to these cancers and its interplay with lifestyle factors."; "PMID:18830131", "PMID:20506380"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2304; "UADT cancer cases and controls with data and samples collected"; "PMID:18830131"; rdfs:comment "Information and biological data from a total of 2304 cases and 2227 controls have been collected and will be used in a series of analyses." . _:23a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2227; "UADT cancer cases and controls with data and samples collected"; "PMID:18830131"; rdfs:comment "Information and biological data from a total of 2304 cases and 2227 controls have been collected and will be used in a series of analyses." . _:23a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCAGE"; . _:23a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCGSES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9690; , ; ; "GCST90301368"; "A prospective hospital-based register of patients admitted with acute stroke to Hospital del Mar, a tertiary public university hospital serving about 330,000 people in three districts of Barcelona, Spain, with records from 2005 onwards, standardised clinical and imaging assessment and outcome follow-up; its patients who gave DNA form the BASICMAR genetic study, a contributing site of the NINDS Stroke Genetics Network."; "BASICMAR", "BASICMAR register", "BASe de datos de ICtus del hospital del MAR", "Base de Datos de Ictus del Hospital del Mar Genetic Study"; ; rdfs:label "Base de Datos de Ictus del Hospital del Mar"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9690 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9690; "acute stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5908882/fullTextXML"; rdfs:comment "The BASICMAR database (18) is an ongoing prospective register of patients with acute stroke at University Hospital del Mar, a tertiary public hospital serving a population of 330,000 in three districts of the city of Barcelona." . _:23a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5191861/fullTextXML"; rdfs:comment "From 2009 to 2012, 82 patients with IS where recruited in Hospital del Mar in Barcelona, Spain, and were included in the BASICMAR Register" . _:23a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "BASICMAR: The Base de Datos de Ictus del Hospital del Mar (BASICMAR) Genetic Study was supported by the Ministerio de Sanidad y Consumo de España, Instituto de Salud Carlos III (ISC III) with the grants: Registro BASICMAR Funding for Research in Health (PI051737); GWA Study of Leukoaraiosis (GWALA) project from Fondos de Investigación Sanitaria ISC III (PI10/02064) and (PI12/01238); Agència de Gestió Ajuts Universitaris de Recerca (2014 SGR 1213) and Fondos European Regional Development Funding (FEDER/EDRF) Red de Investigación Cardiovascular (RD12/0042/0020)." . _:23a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective hospital-based register of patients admitted with acute stroke to Hospital del Mar, a tertiary public university hospital serving about 330,000 people in three districts of Barcelona, Spain, with records from 2005 onwards, standardised clinical and imaging assessment and outcome follow-up; its patients who gave DNA form the BASICMAR genetic study, a contributing site of the NINDS Stroke Genetics Network."; "PMID:26708676", "PMID:29310044", "PMID:29706931", "PMID:39286457"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BASICMAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9696; , ; , ; "GCST90128530"; "A case-control study of breast cancer based at the University Breast Center for Franconia, Erlangen University Hospital, Bavaria, Germany, which in the 2000s enrolled women aged 18 or older with invasive breast cancer treated there, with tumour tissue for tissue microarrays, and controls recruited in hospital, through a breast cancer screening programme or by newspaper advertisement, to study genetic and non-genetic risk factors and prognostic and predictive factors of breast cancer."; "The acronym BBCC also denotes BRCA1 and BRCA2 Cohort Consortium (COHO:0002722); this term is Bavarian Breast Cancer Cases and Controls Study."@en; 1538; "BBCC", "Bavarian Breast Cancer Cases and Controls"; ; rdfs:label "Bavarian Breast Cancer Cases and Controls Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9696 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9696; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Bavarian Breast Cancer Cases and Controls Study (BBCC) is a case control study that aims at the identification of genetic and non-genetic risk factors for breast cancer (Heusinger et al., 2011, Rauh et al., 2012, Schrauder et al., 2008)." . _:23aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11787164/fullTextXML"; rdfs:comment "who received various treatments in accordance with University Breast Center guidelines at the University Breast Center for Franconia, which is part of Erlangen University Hospital (Bavaria, Germany)." . _:23ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Bavarian Breast Cancer Cases and Controls Study (BBCC) is a case control study that aims at the identification of genetic and non-genetic risk factors for breast cancer (Heusinger et al., 2011, Rauh et al., 2012, Schrauder et al., 2008)." . _:23ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer based at the University Breast Center for Franconia, Erlangen University Hospital, Bavaria, Germany, which in the 2000s enrolled women aged 18 or older with invasive breast cancer treated there, with tumour tissue for tissue microarrays, and controls recruited in hospital, through a breast cancer screening programme or by newspaper advertisement, to study genetic and non-genetic risk factors and prognostic and predictive factors of breast cancer."; "PMID:35414113", "PMID:38178900", "PMID:39586971"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1538; "breast cancer patients included 2002-2007 (controls not counted in any source read)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10764119/fullTextXML"; rdfs:comment "From 2002–2007, a total of 1538 patients were included in the study ( Fig. 1 )." . _:23ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9703, _:genid-371333f489424440b12a13b9d98ced822608-genid9705; , ; ; "GCST90128530"; "A population-based case-control study of women aged 18-80 recruited in Western Australia between May 2009 and January 2011 to investigate occupational and environmental risk factors for breast cancer."; 1205; 1789; "BCEES", "Breast Cancer Environment and Employment Study"; ; rdfs:label "Breast Cancer Employment and Environment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9703 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9705 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9703; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24270294+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Breast Cancer Employment and Environment Study included 1205 cases with incident breast cancer during 2009-2011 and 1789 controls." . _:23b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9705; "occupational exposure to ionizing radiation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24270294+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To evaluate current breast cancer risk due to occupational exposure to ionizing radiation." . _:23b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24270294+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from the Western Australian population-based Breast Cancer Employment and Environment Study." . _:23b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Breast Cancer Environment and Employment Study (BCEES) is a large, population-based case–control study of women aged between 18 and 80 years (Fritschi et al., 2013) recruited between May 2009 and January 2011." . _:23b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of women aged 18-80 recruited in Western Australia between May 2009 and January 2011 to investigate occupational and environmental risk factors for breast cancer."; "PMID:24270294", "PMID:35414113"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:23b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1205; "incident breast cancer cases 2009-2011 and controls"; "PMID:24270294"; rdfs:comment "The Breast Cancer Employment and Environment Study included 1205 cases with incident breast cancer during 2009-2011 and 1789 controls." . _:23b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1789; "incident breast cancer cases 2009-2011 and controls"; "PMID:24270294"; rdfs:comment "The Breast Cancer Employment and Environment Study included 1205 cases with incident breast cancer during 2009-2011 and 1789 controls." . _:23b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCEES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9713, _:genid-371333f489424440b12a13b9d98ced822608-genid9715, _:genid-371333f489424440b12a13b9d98ced822608-genid9717; , ; ; "GCST90444478"; "A prospective observational study run by the University of Münster, Germany, of three cohorts of adults aged 35–65 examined in parallel with identical methods: patients treated for an acute depressive episode and patients after an acute myocardial infarction or acute coronary syndrome, recruited through psychiatric and cardiological hospitals and clinics in and around Münster, and reference participants randomly sampled from the city's population register, with a baseline examination in 2010–2013 and repeated follow-ups, to investigate the bidirectional relationship between depression and subclinical arteriosclerosis."; 2315; "BiDirect", "BiDirect study", "The BiDirect study"; ; rdfs:label "BiDirect Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9713 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9715 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9717 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9713; "depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4065391/fullTextXML"; rdfs:comment "BiDirect is scheduled to follow-up three distinct cohorts of individuals ((i) patients with acute depression (N = 999), (ii) patients after an acute cardiac event (N = 347), and (iii) reference subjects from the general population (N = 912))." . _:23b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9715; "arteriosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4065391/fullTextXML"; rdfs:comment "BiDirect is scheduled to follow-up three distinct cohorts of individuals ((i) patients with acute depression (N = 999), (ii) patients after an acute cardiac event (N = 347), and (iii) reference subjects from the general population (N = 912))." . _:23b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9717; "acute cardiac event"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4065391/fullTextXML"; rdfs:comment "BiDirect is scheduled to follow-up three distinct cohorts of individuals ((i) patients with acute depression (N = 999), (ii) patients after an acute cardiac event (N = 347), and (iii) reference subjects from the general population (N = 912))." . _:23ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11746137/supplementaryFiles"; rdfs:comment "All study participants were recruited in the district of Münster, Germany, and underwent extensive phenotyping during a 10-year period with three follow-ups." . _:23bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444478"; "Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration."; "PMID:39251807", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/supplementaryFiles"; rdfs:comment "The BiDirect Study was initiated in 2009 as a prospective, observational study integrating three cohorts: 1) community-dwelling adults (control diagnostic group), 2) patients with an acute depressive episode (depression diagnostic group), and 3) patients who recently suffered from acute myocardial infarction (MI diagnostic group)." . _:23bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational study run by the University of Münster, Germany, of three cohorts of adults aged 35–65 examined in parallel with identical methods: patients treated for an acute depressive episode and patients after an acute myocardial infarction or acute coronary syndrome, recruited through psychiatric and cardiological hospitals and clinics in and around Münster, and reference participants randomly sampled from the city's population register, with a baseline examination in 2010–2013 and repeated follow-ups, to investigate the bidirectional relationship between depression and subclinical arteriosclerosis."; "PMID:22736162", "PMID:24924233"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2315; "participants recruited at baseline 2010-2013 (depression, CVD and reference cohorts)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4065391/fullTextXML"; rdfs:comment "Overall, 2315 participants were recruited for BiDirect-Baseline; 2258 (97.5%) of them matched the final inclusion criteria." . _:23be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BiDirect"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9724; , ; ; "GCST90271628"; "A population-based cohort study of common eye diseases and other health outcomes among permanent residents aged 49 years or older of two postcode areas in the Blue Mountains, west of Sydney, Australia, identified through a census and examined at baseline in 1992–1994 and then every five years to 2007–2009, with newly eligible residents added in an extension study in 1999–2000."; 3654; "BMES", "Blue Mountain Eye Study"; ; rdfs:label "Blue Mountains Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9724 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9724; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1524813/fullTextXML"; rdfs:comment "The Blue Mountains Eye Study (BMES) is a population-based cohort study of common eye diseases and other health outcomes." . _:23c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1524813/fullTextXML"; rdfs:comment "The study involved eligible permanent residents aged 49 years and older, living in two postcode areas in the Blue Mountains, west of Sydney, Australia." . _:23c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271628"; "Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus."; "PMID:36864135", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41562-023-01528-6/MediaObjects/41562_2023_1528_MOESM1_ESM.pdf"; rdfs:comment "The Blue Mountains Eye Study (BMES) was supported by the Australian National Health & Medical Research Council (NHMRC), Canberra Australia (NHMRC project grant IDs 974159, 211069, 302068, and Centre for Clinical Research Excellence in Translational Clinical Research in Eye Diseases, CCRE in TCR-Eye, grant ID 529923)." . _:23c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of common eye diseases and other health outcomes among permanent residents aged 49 years or older of two postcode areas in the Blue Mountains, west of Sydney, Australia, identified through a census and examined at baseline in 1992–1994 and then every five years to 2007–2009, with newly eligible residents added in an extension study in 1999–2000."; "PMID:16623958", "PMID:33732727"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3654; "residents examined at baseline 1992-1994 (excludes the 1999-2000 extension)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1524813/fullTextXML"; rdfs:comment "The baseline examinations (BMES cross-section I) were conducted during 1992–1994 and included 3654 (82.4%) of 4433 eligible residents." . _:23c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BMES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9731; , ; ; "GCST90704646"; "A cohort of Alzheimer's disease cases and controls in Germany, drawn from a larger German GWAS sample recruited through the German Dementia Competence Network, the AgeCoDe study of ageing, cognition and dementia in primary care patients, and the Memory Clinic at the University Hospital of Bonn. Controls were drawn from the population-based Heinz Nixdorf Recall study cohort."; "Bonn OMNI", "Bonn-OMNI"; ; rdfs:label "Bonn OMNI cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9731; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Bonn OMNI cohort: the Bonn OMNI cohort consists of AD patients and controls derived from a larger German GWAS cohort which was recruited from the following three sources: (i) the German Dementia Competence Network; (ii) the German study on Aging, Cognition, and Dementia in primary care patients (AgeCoDe); and (iii) the interdisciplinary Memory Clinic at the University Hospital of Bonn." . _:23c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Bonn OMNI cohort: the Bonn OMNI cohort consists of AD patients and controls derived from a larger German GWAS cohort which was recruited from the following three sources: (i) the German Dementia Competence Network; (ii) the German study on Aging, Cognition, and Dementia in primary care patients (AgeCoDe); and (iii) the interdisciplinary Memory Clinic at the University Hospital of Bonn." . _:23c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Bonn OMNI cohort: the Bonn OMNI cohort consists of AD patients and controls derived from a larger German GWAS cohort which was recruited from the following three sources: (i) the German Dementia Competence Network; (ii) the German study on Aging, Cognition, and Dementia in primary care patients (AgeCoDe); and (iii) the interdisciplinary Memory Clinic at the University Hospital of Bonn." . _:23c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of Alzheimer's disease cases and controls in Germany, drawn from a larger German GWAS sample recruited through the German Dementia Competence Network, the AgeCoDe study of ageing, cognition and dementia in primary care patients, and the Memory Clinic at the University Hospital of Bonn. Controls were drawn from the population-based Heinz Nixdorf Recall study cohort."; "PMID:42237039"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:23c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bonn-OMNI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9737; , , , , , ; ; "GCST90301368"; "An ongoing international hospital-based DNA repository, run from Imperial College London, of adults with ischaemic or haemorrhagic stroke recruited at stroke centres in the United Kingdom (patients of European ancestry and British South Asians), India and Qatar, together with controls, to compare genetic risk factors for stroke between European, South Asian and Middle Eastern populations."; 4580; "BRAINS", "Bio-Repository of DNA in stroke", "Bio-repository of DNA in stroke"; ; rdfs:label "Bio-Repository of DNA in Stroke"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9737 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9737; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3738328/fullTextXML"; rdfs:comment "The BRAINS (Bio-repository of DNA in stroke) study aims to recruit subjects with all subtypes of stroke as well as controls from UK, India, Sri Lanka and Qatar." . _:23cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10811966/fullTextXML"; rdfs:comment "The study included the UK, Indian, and Qatari arms of the ongoing large Bio-Repository of DNA in Stroke (BRAINS) international prospective hospital-based study for South Asian stroke." . _:23cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "BRAINS: The Bio-Repository of DNA in Stroke (BRAINS) was supported by the British Council (UKIERI), Henry Smith Charity, the UK Stroke Research Network and the Qatari National Research Fund." . _:23cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing international hospital-based DNA repository, run from Imperial College London, of adults with ischaemic or haemorrhagic stroke recruited at stroke centres in the United Kingdom (patients of European ancestry and British South Asians), India and Qatar, together with controls, to compare genetic risk factors for stroke between European, South Asian and Middle Eastern populations."; "PMID:24175068", "PMID:37706299"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4580; "first-ever ischaemic stroke patients recruited in the UK, India and Qatar (analysed subset; controls and haemorrhagic strokes not included), 2023"; "PMID:37706299"; rdfs:comment "BRAINS includes 4580 South Asian and White British recruits from UK, Indian, and Qatar sites with first-ever ischemic stroke." . _:23cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRAINS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9744; , ; "GCST90128530"; "A population-based case-control study of breast cancer conducted since 1997 in Vigo and Santiago de Compostela, Galicia, Spain, recruiting incident breast cancer cases from Galician hospitals with blood and tumour tissue samples and risk-factor questionnaires, and controls frequency-matched by age, public health registry inclusion and place of residence."; 1453; 820; "BREOGAN", "BREast Oncology GAlicia Network", "BREast Oncology GAlician Network", "Breast Oncology Galician Network"; ; rdfs:label "Breast Oncology Galicia Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9744 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9744; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The BREast Oncology GAlicia Network (BREOGAN) is a population-based study conducted since 1997 in two main cities in Galicia, Spain (Vigo and Santiago de Compostela), which cover approximately 700,000 inhabitants." . _:23d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The BREast Oncology GAlicia Network (BREOGAN) is a population-based study conducted since 1997 in two main cities in Galicia, Spain (Vigo and Santiago de Compostela), which cover approximately 700,000 inhabitants." . _:23d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The BREast Oncology GAlicia Network (BREOGAN) is a population-based study conducted since 1997 in two main cities in Galicia, Spain (Vigo and Santiago de Compostela), which cover approximately 700,000 inhabitants." . _:23d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer conducted since 1997 in Vigo and Santiago de Compostela, Galicia, Spain, recruiting incident breast cancer cases from Galician hospitals with blood and tumour tissue samples and risk-factor questionnaires, and controls frequency-matched by age, public health registry inclusion and place of residence."; "PMID:35414113"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:23d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1453; "cases and controls whose samples were sent for OncoArray genotyping (BCAC), not the whole study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "BREOGAN Breast Oncology Galicia Network91,92 Population-based case-control study Spain 820 1453 725 1378 0 0" . _:23d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 820; "cases and controls whose samples were sent for OncoArray genotyping (BCAC), not the whole study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "BREOGAN Breast Oncology Galicia Network91,92 Population-based case-control study Spain 820 1453 725 1378 0 0" . _:23d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BREOGAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9752; , , ; , ; "GCST90002231"; "An ongoing community-based prospective observational study of the genetic basis of cardiovascular disease and its risk factors, begun in 2005 by Nagoya University with Aichi Gakuin University, of local residents of Kitanagoya, Aichi Prefecture, Japan, aged 50 or older, enrolled at community-based annual health check-ups."; 3975; "CAGE-KING", "CAGE-KING-Omni", "CAGE-KING-Quad", "CAGE-KING_Quad", "KING", "KItaNagoya Genome", "Kita-Nagoya Genomic Epidemiology study", "Kitanagoya Genome Study"; ; rdfs:label "Kita-Nagoya Genomic Epidemiology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9752 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9752; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6453927/fullTextXML"; rdfs:comment "The Kita-Nagoya Genomic Epidemiology (KING) Study (ClinicalTrials.gov identifier NCT00262691) is an ongoing community-based prospective observational study of the genetic basis of cardiovascular disease and its risk factors" . _:23d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00262691"; rdfs:comment "Investigation of Genetic Risk of Cardiovascular Disease in Prospective Cohort Study, the Kitanagoya Genome (KING) Study for the Local Residents of Kitanagoya, Japan" . _:23d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002231"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The KING Study was supported in part by Grants-in-Aid from MEXT (nos. 24390169, 16H05250, 25293144, 15K19242, 16H06277, 19K19434, and 20K10514)" . _:23da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing community-based prospective observational study of the genetic basis of cardiovascular disease and its risk factors, begun in 2005 by Nagoya University with Aichi Gakuin University, of local residents of Kitanagoya, Aichi Prefecture, Japan, aged 50 or older, enrolled at community-based annual health check-ups."; "PMID:30993211", "https://clinicaltrials.gov/api/v2/studies/NCT00262691"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3975; "residents recruited at annual health check-ups May 2005 to December 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6453927/fullTextXML"; rdfs:comment "It recruited 3975 Japanese subjects aged 50–80 years who underwent community-based annual health checkups between May 2005 and December 2007." . _:23dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-KING"; . _:23dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-KING-Omni"; . _:23de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-KING-Quad"; . _:23df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-KING_Quad"; . _:23e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KING"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9763; , ; ; "GCST90502911"; "A collection of clinical and genetic data from patients with atrial fibrillation and controls enrolled at the Cleveland Clinic in its CV/Arrhythmia Biobank, including the Cleveland Clinic Lone Atrial Fibrillation GeneBank of patients with atrial fibrillation without significant structural heart disease, for genetic studies of atrial fibrillation; its early-onset cases were whole-genome sequenced in the NHLBI TOPMed programme."; 363; "CCAF", "Cleveland Clinic AF Study", "Cleveland Clinic AF study"; ; rdfs:label "Cleveland Clinic Atrial Fibrillation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9763 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9763; "atrial fibrillation"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001189.v5.p1"; rdfs:comment "The Cleveland Clinic Atrial Fibrillation Study consists of clinical and genetic data of patients with atrial fibrillation and control cohorts from the Cleveland Clinic CV/Arrhythmia Biobank, including the Cleveland Clinic Lone Atrial Fibrillation GeneBank." . _:23e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001189.v5.p1"; rdfs:comment "The Cleveland Clinic Atrial Fibrillation Study consists of clinical and genetic data of patients with atrial fibrillation and control cohorts from the Cleveland Clinic CV/Arrhythmia Biobank, including the Cleveland Clinic Lone Atrial Fibrillation GeneBank." . _:23e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Cleveland Clinic Atrial Fibrillation Study (CCAF)" . _:23e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of clinical and genetic data from patients with atrial fibrillation and controls enrolled at the Cleveland Clinic in its CV/Arrhythmia Biobank, including the Cleveland Clinic Lone Atrial Fibrillation GeneBank of patients with atrial fibrillation without significant structural heart disease, for genetic studies of atrial fibrillation; its early-onset cases were whole-genome sequenced in the NHLBI TOPMed programme."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000820.v1.p1", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001189.v5.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 363; "consented subjects in the dbGaP TOPMed study of this name (early-onset AF case set)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001189.v5.p1"; rdfs:comment "Total number of consented subjects: 363" . _:23e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCAF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9770, _:genid-371333f489424440b12a13b9d98ced822608-genid9772, _:genid-371333f489424440b12a13b9d98ced822608-genid9774; , ; "GCST90320046"; "A statewide record-linkage case–control study that links California birth records for 1982–2009, maintained by the California Department of Public Health, to diagnoses of cancer before the age of 15 in the California Cancer Registry for 1988–2011, with cancer-free California-born controls matched on date of birth, sex and maternal race or ethnicity through vital statistics records, and uses archived newborn dried blood spots from the California Biobank Program for genetic studies of childhood cancers such as acute lymphoblastic leukaemia and glioma."; "CCRLP", "California Cancer Records Linkage Project"; ; rdfs:label "California Childhood Cancer Record Linkage Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9770 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9772 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9774 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9770; "acute lymphoblastic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550840/fullTextXML"; rdfs:comment "The California Childhood Cancer Record Linkage Project (CCRLP) includes all children born in California during 1982–2009 and diagnosed with ALL at the age of 0–14 years per California Cancer Registry records from 1988 to 2011." . _:23e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9772; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550840/fullTextXML"; rdfs:comment "The California Childhood Cancer Record Linkage Project (CCRLP) includes all children born in California during 1982–2009 and diagnosed with ALL at the age of 0–14 years per California Cancer Registry records from 1988 to 2011." . _:23e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9774; "glioma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550840/fullTextXML"; rdfs:comment "The California Childhood Cancer Record Linkage Project (CCRLP) includes all children born in California during 1982–2009 and diagnosed with ALL at the age of 0–14 years per California Cancer Registry records from 1988 to 2011." . _:23ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550840/fullTextXML"; rdfs:comment "The California Childhood Cancer Record Linkage Project (CCRLP) includes all children born in California during 1982–2009 and diagnosed with ALL at the age of 0–14 years per California Cancer Registry records from 1988 to 2011." . _:23eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90320046"; "Evaluating genomic polygenic risk scores for childhood acute lymphoblastic leukemia in Latinos."; "PMID:37710962", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550840/fullTextXML"; rdfs:comment "The California Childhood Cancer Record Linkage Project (CCRLP) includes all children born in California during 1982–2009 and diagnosed with ALL at the age of 0–14 years per California Cancer Registry records from 1988 to 2011." . _:23ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A statewide record-linkage case–control study that links California birth records for 1982–2009, maintained by the California Department of Public Health, to diagnoses of cancer before the age of 15 in the California Cancer Registry for 1988–2011, with cancer-free California-born controls matched on date of birth, sex and maternal race or ethnicity through vital statistics records, and uses archived newborn dried blood spots from the California Biobank Program for genetic studies of childhood cancers such as acute lymphoblastic leukaemia and glioma."; "PMID:29348612", "PMID:36810956"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCRLP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9780; , ; "GCST90239836"; "A sample of people in the United Kingdom with treatment-resistant schizophrenia who were prescribed clozapine, whose anonymised blood samples and clinical monitoring data were obtained through the clozapine monitoring services, first in collaboration with Novartis and later through the Zaponex Treatment Access System (second wave 2013–15, third wave 2019–21), for Cardiff University's genetic studies of schizophrenia and clozapine metabolism."; 11260; "CLOZUK", "The CLOZUK cohort"; ; rdfs:label "CLOZUK study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9780 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9780; "treatment-resistant schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10824469/fullTextXML"; rdfs:comment "Pharmacokinetic and genomic data from the study participants were acquired as part of the CLOZUK study14 of individuals from the UK who had been prescribed clozapine for treatment-resistant schizophrenia." . _:23ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10824469/fullTextXML"; rdfs:comment "The fact that CLOZUK participants were recruited solely within the UK meant that only small sample sizes were available for individuals of non-European ancestries and that these individuals were identified using a genetics-based approach that relied on discrete biogeographical categories." . _:23f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239836"; "Pharmacokinetics and pharmacogenomics of clozapine in an ancestrally diverse sample: a longitudinal analysis and genome-wide association study using UK clinical monitoring data."; "PMID:36804072", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36804072+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this GWAS, we analysed data from the UK Zaponex Treatment Access System clozapine monitoring service as part of the CLOZUK study." . _:23f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of people in the United Kingdom with treatment-resistant schizophrenia who were prescribed clozapine, whose anonymised blood samples and clinical monitoring data were obtained through the clozapine monitoring services, first in collaboration with Novartis and later through the Zaponex Treatment Access System (second wave 2013–15, third wave 2019–21), for Cardiff University's genetic studies of schizophrenia and clozapine metabolism."; "PMID:22614287", "PMID:36804072"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11260; "schizophrenia cases in the analysed CLOZUK GWAS sample (after QC), 2018"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5918692/unicode"; rdfs:comment "The final sample size was 11,260 cases and 24,542 controls (5,220 cases and 18,823 controls not in previous schizophrenia GWAS; Methods and Supplementary Figs." . _:23f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLOZUK"; . a owl:NamedIndividual, ; , ; "GCST90319690"; "A prospective longitudinal study of same-sex twin pairs born in 1984–1990 and recruited in Colorado, United States, from the Colorado Twin Registry of the Institute for Behavioral Genetics at the University of Colorado, assessed almost yearly from 14 months to age 16 and again in adulthood to investigate genetic and environmental influences on individual differences in psychological development."; 483; "COL_Twin", "Colorado Longitidinal Twin Study", "Colorado Longitudinal Twin Sample", "LTS"; ; rdfs:label "Colorado Longitudinal Twin Study"@en . _:23f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13333102/fullTextXML"; rdfs:comment "LTS participants, born between 1984 and 1990, were recruited in Colorado, and were followed from birth" . _:23f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319690"; "Trans-ancestry meta-analysis of genome wide association studies of inhibitory control."; "PMID:37500827", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10827666/unicode"; rdfs:comment "The Colorado sample (COLORADO) includes same sex monozygotic (MZ) and dizygotic (DZ) twins recruited from the Colorado Longitudinal Twin Sample that was designed to investigate genetic and environmental influences on cognitive and emotional development." . _:23f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective longitudinal study of same-sex twin pairs born in 1984–1990 and recruited in Colorado, United States, from the Colorado Twin Registry of the Institute for Behavioral Genetics at the University of Colorado, assessed almost yearly from 14 months to age 16 and again in adulthood to investigate genetic and environmental influences on individual differences in psychological development."; "PMID:23092589", "PMID:42223860"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 483; "twin pairs (families) who have participated in the LTS (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3854934/unicode"; rdfs:comment "Thus the number of families who have participated in LTS is 483 (male-male twin pairs: 240; female-female twin pairs: 243)." . _:23f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COL_Twin"; . _:23f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LTS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9793; , ; ; "GCST90704646"; "A harmonized dataset of the Alzheimer's Disease Genetics Consortium that merges six separately ascertained datasets or dataset waves of Alzheimer's disease cases and cognitively normal elders (BIOCARD, CHAP2, EAS, RMAYO, ROSMAP2 and WASHU2), each too small to be analysed on its own, so that they can be analysed together in common-variant association studies."; 181; 1292; 1473; "CSDC"; ; rdfs:label "Combined Small Datasets Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:23fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9793; "Alzheimer's disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "The CSDC is a harmonized collection of merged small datasets (comprising the existing datasets of BIOCARD, CHAP2, EAS, RMAYO, ROSMAP2, and WASHU2) used in common variant analyses to deal with small case and control counts within the individual studies." . _:23fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "CHAP (part of CSDC): CHAP is an on-going, community-based study of individuals from a geographically defined community of 3 neighborhoods in Chicago, Illinois (Morgan Park, Washington Heights, and Beverly), with 6,158 participants in the first phase of the study (78.7% overall; 80.5% of the blacks, 74.6% of the whites)53 ." . _:23fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Here we update descriptions of these studies, where applicable, and provide descriptions for ADC waves 8- 12, as well as the Combined Small Datasets Collection (CSDC)." . _:23fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A harmonized dataset of the Alzheimer's Disease Genetics Consortium that merges six separately ascertained datasets or dataset waves of Alzheimer's disease cases and cognitively normal elders (BIOCARD, CHAP2, EAS, RMAYO, ROSMAP2 and WASHU2), each too small to be analysed on its own, so that they can be analysed together in common-variant association studies."; "PMID:42237039"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:23fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 181; "AD cases and controls of the CSDC in the 2026 ADRD GWAS meta-analysis (raw N)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM4_ESM.xlsx" . _:23ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1292; "AD cases and controls of the CSDC in the 2026 ADRD GWAS meta-analysis (raw N)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM4_ESM.xlsx" . _:24002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1473; "AD cases and controls of the CSDC in the 2026 ADRD GWAS meta-analysis (raw N)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM4_ESM.xlsx" . _:24012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSDC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9802; , ; "GCST90132193"; "A biobank set up at Columbia University Irving Medical Center in New York City, United States, in response to the city's COVID-19 surge in March 2020, which kept residual blood and urine samples left over from clinical testing of consecutive patients with PCR-confirmed COVID-19, of any age, sex or ancestry, treated at the medical center."; 1166; "CU-COVID-19", "Columbia COVID-19 Biobank", "Columbia University COVID19 Biobank"; ; rdfs:label "Columbia University COVID-19 Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9802; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8497954/fullTextXML"; rdfs:comment "The Columbia COVID-19 Biobank recruited consecutive COVID-19 cases (positive result from nasopharyngeal SARS-CoV-2 polymerase chain reaction test), regardless of age, sex, or race/ethnicity who received care at the Columbia University Irving Medical Center." . _:24032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9428108/fullTextXML"; rdfs:comment "The Columbia University COVID-19 Biobank was established in response to the New York City infection surge in March 2020." . _:24042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132193"; "Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative."; "PMID:36327219", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9632827/fullTextXML"; rdfs:comment "Recruitment and sequencing of participants from the Columbia COVID-19 Biobank were approved by the Columbia University Institutional Review Board (IRB) protocol AAAS7370 and the genetic analyses were approved under protocol AAAS7948." . _:24052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank set up at Columbia University Irving Medical Center in New York City, United States, in response to the city's COVID-19 surge in March 2020, which kept residual blood and urine samples left over from clinical testing of consecutive patients with PCR-confirmed COVID-19, of any age, sex or ancestry, treated at the medical center."; "PMID:34642645", "PMID:36062073"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1166; "COVID-19 cases recruited March-May 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9428108/fullTextXML"; rdfs:comment "The Biobank recruited COVID-19 cases (n = 1,166) of diverse ancestry among all patients who were treated at Columbia University Irving Medical Center between March and May 2020." . _:24072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CU-COVID-19"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9809, _:genid-371333f489424440b12a13b9d98ced822608-genid9811; , ; "GCST90002227"; "A population-based health examination survey of a random sample of people aged 45–74, drawn from the National Population Register and stratified by sex, age group and area, in the hospital districts of Pirkanmaa, South Ostrobothnia and Central Finland, Finland, examined in October–December 2007 at the end of FIN-D2D, the implementation project of Finland's national type 2 diabetes prevention programme, to measure the prevalence of diabetes, cardiovascular disease and their risk factors and to evaluate the programme."; 2766; "D2D2007", "Dehko 2D 2007", "FIN-D2D", "FIN-D2D2007"; ; rdfs:label "FIN-D2D 2007"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9809 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9811 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9809; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3118241/fullTextXML"; rdfs:comment "As a part of the evaluation, population-based health examination surveys with independent random samples from the population were conducted in the beginning and at the end of the project period." . _:24092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9811; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3118241/fullTextXML"; rdfs:comment "As a part of the evaluation, population-based health examination surveys with independent random samples from the population were conducted in the beginning and at the end of the project period." . _:240a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2873937/fullTextXML"; rdfs:comment "The FIN-D2D survey was carried out in the hospital districts of Pirkanmaa, the Southern Ostrobothnia, and Central Finland between October and December 2007." . _:240b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002227"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The FIN-D2D study has been financially supported by the hospital districts of Pirkanmaa, South Ostrobothnia, and Central Finland, the Finnish National Public Health Institute (current National Institute for Health and Welfare), the Finnish Diabetes Association, the Ministry of Social Affairs and Health in Finland, the Academy of Finland (grant number 129293),Commission of the European Communities, Directorate C-Public Health (grant agreement no. 2004310) and Finland’s Slottery Machine Association." . _:240c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based health examination survey of a random sample of people aged 45–74, drawn from the National Population Register and stratified by sex, age group and area, in the hospital districts of Pirkanmaa, South Ostrobothnia and Central Finland, Finland, examined in October–December 2007 at the end of FIN-D2D, the implementation project of Finland's national type 2 diabetes prevention programme, to measure the prevalence of diabetes, cardiovascular disease and their risk factors and to evaluate the programme."; "PMID:20459722", "PMID:21595955", "PMID:23555291"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:240d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2766; "participants included in analysis (analysed subset after exclusions), 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2873937/fullTextXML"; rdfs:comment "The total number of individuals included was thus 2766 (61% of the original sample)." . _:240e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D2D2007"; . _:240f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIN-D2D"; . _:24102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIN-D2D2007"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9820, _:genid-371333f489424440b12a13b9d98ced822608-genid9822; , ; "GCST90704646"; "A subsample of the German Study on Ageing, Cognition and Dementia in Primary Care Patients (AgeCoDe), a general-practice registry-based longitudinal study of people aged 75 and over recruited in 2002–2003 in six German cities, made up of participants who were free of dementia at baseline and had DNA available and who either developed Alzheimer-type dementia during follow-up or stayed free of dementia, selected for a genome-wide DNA methylation study of dementia and also genotyped genome-wide."; 120; 200; 320; "DBB", "DietBB", "The Diet-Body-Brain cohort"; ; rdfs:label "DietBB sample"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9820 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9822 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9820; "dementia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "The DietBB sample included in this GWAS is a subsample extracted from the AgeCoDe cohort in the context of an ongoing genome-wide methylation analysis for dementia." . _:24122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9822; "dementia of the AD-type"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "The DietBB sample included in this GWAS is a subsample extracted from the AgeCoDe cohort in the context of an ongoing genome-wide methylation analysis for dementia." . _:24132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "Participants were recruited in six German cities (Bonn, Dusseldorf, Hamburg, Leipzig, Mannheim, and Munich) with a total of 138 GPs connected to the study sites." . _:24142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "The DietBB sample included in this GWAS is a subsample extracted from the AgeCoDe cohort in the context of an ongoing genome-wide methylation analysis for dementia." . _:24152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A subsample of the German Study on Ageing, Cognition and Dementia in Primary Care Patients (AgeCoDe), a general-practice registry-based longitudinal study of people aged 75 and over recruited in 2002–2003 in six German cities, made up of participants who were free of dementia at baseline and had DNA available and who either developed Alzheimer-type dementia during follow-up or stayed free of dementia, selected for a genome-wide DNA methylation study of dementia and also genotyped genome-wide."; "PMID:42237039"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 120; "AgeCoDe participants selected for DietBB"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "This criterion led to the selection of 320 participants." . _:24172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "AgeCoDe participants selected for DietBB"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "This criterion led to the selection of 320 participants." . _:24182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 320; "AgeCoDe participants selected for DietBB"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "This criterion led to the selection of 320 participants." . _:24192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DBB"; . _:241a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DietBB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9832, _:genid-371333f489424440b12a13b9d98ced822608-genid9834, _:genid-371333f489424440b12a13b9d98ced822608-genid9836, _:genid-371333f489424440b12a13b9d98ced822608-genid9838; , ; ; "GCST90104624"; "A population-based cohort of Finnish adults aged 25–74, recruited at baseline in 2007 as a sub-study of the FINRISK2007 survey to investigate the factors leading to obesity and metabolic syndrome, with follow-up in 2014."; 5024; "DILGOM", "DILGOM2007", "DIetary, Lifestyle and Genetic determinants of Obesity and Metabolic syndrome study", "DIetary, Lifestyle, and Genetic determinants of Obesity and Metabolic syndrome Survey", "Dietary, Lifestyle and Genetic Determinants of Obesity and Metabolic Syndrome", "Dietary, Lifestyle and Genetic determinants of Obesity and Metabolic Syndrome"; ; rdfs:label "Dietary, Lifestyle and Genetic Determinants of Obesity and Metabolic Syndrome study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9832 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9834 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9836 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9838 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:241b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9832; "lifestyle determinants of obesity and metabolic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29158543+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were Finnish aged 25-74 years who attended the DIetary, Lifestyle and Genetic determinants of Obesity and Metabolic syndrome study at baseline in 2007 and follow-up in 2014." . _:241c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9834; "dietary determinants of obesity and metabolic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29158543+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were Finnish aged 25-74 years who attended the DIetary, Lifestyle and Genetic determinants of Obesity and Metabolic syndrome study at baseline in 2007 and follow-up in 2014." . _:241d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9836; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9311699/supplementaryFiles"; rdfs:comment "DILGOM study was carried out in 5,024 individuals to investigate the factors leading to obesity and metabolic syndrome." . _:241e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9838; "metabolic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9311699/supplementaryFiles"; rdfs:comment "DILGOM study was carried out in 5,024 individuals to investigate the factors leading to obesity and metabolic syndrome." . _:241f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29158543+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were Finnish aged 25-74 years who attended the DIetary, Lifestyle and Genetic determinants of Obesity and Metabolic syndrome study at baseline in 2007 and follow-up in 2014." . _:24202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104624"; "Genetic and observational evidence: No independent role for cholesterol efflux over static high-density lipoprotein concentration measures in coronary heart disease risk assessment."; "PMID:35289444", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9311699/supplementaryFiles"; rdfs:comment "DILGOM study was carried out in 5,024 individuals to investigate the factors leading to obesity and metabolic syndrome.4 Blood samples were collected at 8-hour fasting state." . _:24212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of Finnish adults aged 25–74, recruited at baseline in 2007 as a sub-study of the FINRISK2007 survey to investigate the factors leading to obesity and metabolic syndrome, with follow-up in 2014."; "PMID:29158543", "PMID:35289444"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:24222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5024; "participants examined at baseline in 2007"; "https://doi.org/10.1038/ijo.2017.278"; rdfs:comment "At baseline (n=5024), height, weight and waist circumference (WC) were measured in a health examination and participants self-reported their weight at age 20 years." . _:24232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DILGOM"; . _:24242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DILGOM2007"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9846; , ; "GCST90002227"; "A randomised controlled trial at five centres in Finland (Helsinki, Kuopio, Turku, Tampere and Oulu) that from 1993 to 1998 randomised overweight men and women aged 40–64 with impaired glucose tolerance to intensive individual diet and exercise counselling or to a control group, to test whether lifestyle change prevents type 2 diabetes, and whose participants continued to be followed with yearly visits after the trial."; 522; "DPS"; ; rdfs:label "Finnish Diabetes Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9846 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9846; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12439282/fullTextXML"; rdfs:comment "The primary objective of the DPS was to investigate the impact of lifestyle advice (diet, weight control, and physical activity) in participants with impaired glucose tolerance for the prevention of T2DM." . _:24262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3024360/fullTextXML"; rdfs:comment "The DPS is a clinical trial with five participating centers (Helsinki, Kuopio, Turku, Tampere, and Oulu) in Finland (NCT00518167)." . _:24272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002227"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "The DPS has been financially supported by grants from the Academy of Finland (117844 and 40758, 211497, and 118590; The EVO funding of the Kuopio University Hospital from Ministry of Health and Social Affairs" . _:24282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised controlled trial at five centres in Finland (Helsinki, Kuopio, Turku, Tampere and Oulu) that from 1993 to 1998 randomised overweight men and women aged 40–64 with impaired glucose tolerance to intensive individual diet and exercise counselling or to a control group, to test whether lifestyle change prevents type 2 diabetes, and whose participants continued to be followed with yearly visits after the trial."; "PMID:20980412", "PMID:23555291", "PMID:40583490"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 522; "randomised participants with IGT (257 control, 265 intervention)"; "PMID:20980412"; rdfs:comment "A total of 522 subjects with impaired glucose tolerance (IGT) were randomized into the control (n = 257) and intervention (n = 265) groups." . _:242a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9853; , ; "GCST90559231"; "A single-centre, prospective, longitudinal observational natural-history study at the Duke Eye Center in Durham, North Carolina, United States, which from 2013 enrolled people aged 50 or over with early or intermediate (dry) age-related macular degeneration from the centre's patients, together with controls from Duke optometry and comprehensive eye clinics or the patients' family and friends, and assessed them with retinal imaging and with visual function tests repeated about every six months over 24 months, to find functional end points for clinical trials."; 101; "DUKE FEATURE", "Duke FEATURE", "Duke_FEATURE"; ; rdfs:label "Duke study of Functional Endpoints for Age-related Macular Degeneration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:242b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9853; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36245764+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 101 subjects (33 with eAMD, 47 with iAMD, and 21 normal controls) were recruited." . _:242c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9559970/fullTextXML"; rdfs:comment "Participants were enrolled at the Duke Eye Center." . _:242d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559231"; "HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement."; "PMID:41361163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "The DUKE FEATURE study was supported by the National Eye Institute, National Institutes of Health, Bethesda, Maryland (grant no.: K23EY026988, EML) and F. Hoffmann La Roche Ltd., Basel, Switzerland (EML through Duke University)." . _:242e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre, prospective, longitudinal observational natural-history study at the Duke Eye Center in Durham, North Carolina, United States, which from 2013 enrolled people aged 50 or over with early or intermediate (dry) age-related macular degeneration from the centre's patients, together with controls from Duke optometry and comprehensive eye clinics or the patients' family and friends, and assessed them with retinal imaging and with visual function tests repeated about every six months over 24 months, to find functional end points for clinical trials."; "PMID:36245764", "PMID:42560005", "https://clinicaltrials.gov/api/v2/studies/NCT01822873"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:242f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 101; "subjects enrolled (33 early AMD, 47 intermediate AMD, 21 controls)"; "PMID:36245764"; rdfs:comment "A total of 101 subjects (33 with eAMD, 47 with iAMD, and 21 normal controls) were recruited." . _:24302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DUKE FEATURE"; . _:24312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duke FEATURE"; . _:24322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Duke_FEATURE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9862; , , , ; , , , , , , ; "GCST90296493"; "An NCI-supported consortium, begun in 2006, of case-control and cohort studies in North America, Europe, Asia and Australia that combines data across its member studies, including in a genome-wide association study, to investigate the etiology of endometrial cancer."; 2695; 2777; 5472; "E2C2"; ; rdfs:label "Epidemiology of Endometrial Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9862; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898362/fullTextXML"; rdfs:comment "In search of additional common genetic variants, we conducted a two-stage GWAS of EC among women participating in studies that are part of the Epidemiology of Endometrial Cancer Consortium (E2C2, details in Supplementary Table 1)." . _:24342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898362/fullTextXML"; rdfs:comment "We conducted a GWAS within the E2C2 to identify genetic loci that predispose to EC. Details on the 15 participating studies are provided in Supplementary Table 1. The discovery phase of the GWAS (Stage 1) was conducted among women of European ancestry and was restricted to Type 1 EC, the most common subtype accounting for 80–90 % of all cases in women of European descent. Seven participating studies, including four cohort [California Teacher’s Study (CTS), Nurses’ Health Study (NHS), Multiethnic Cohort (MEC), Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO)] and three case–control studies [Connecticut Endometrial Cancer (CONN), Fred Hutchinson Cancer Research Center (FHCRC), Polish Endometrial Cancer Study (PECS)], were genotyped in Stage 1 (2,695 cases, 2,777 controls)." . _:24352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3699726/"; rdfs:comment "Twenty-four studies (10 cohort and 14 case-control) in the E2C2 with available type II cases were included in the pooled analysis (Table 1). Cohort studies were analyzed as nested case-control studies, with up to four controls randomly selected from the risk set (women with intact uteri and without endometrial cancer before the index case diagnosis) for each case based on exact year of birth, date of cohort entry (± 6 months), and other criteria as appropriate for each individual study (eg, race/ethnicity, study area). The majority of participants were non-Hispanic white, and the populations were from the United States, Canada, Europe, and Australia. Three studies (Multiethnic Cohort [MEC], Hawaii Endometrial Cancer Study [HAW], and Shanghai Endometrial Cancer Study [SECS]) included mainly or exclusively nonwhite populations from the United States or China." . _:24362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898362/fullTextXML"; rdfs:comment "We conducted a GWAS within the E2C2 to identify genetic loci that predispose to EC. Details on the 15 participating studies are provided in Supplementary Table 1. The discovery phase of the GWAS (Stage 1) was conducted among women of European ancestry and was restricted to Type 1 EC, the most common subtype accounting for 80–90 % of all cases in women of European descent. Seven participating studies, including four cohort [California Teacher’s Study (CTS), Nurses’ Health Study (NHS), Multiethnic Cohort (MEC), Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO)] and three case–control studies [Connecticut Endometrial Cancer (CONN), Fred Hutchinson Cancer Research Center (FHCRC), Polish Endometrial Cancer Study (PECS)], were genotyped in Stage 1 (2,695 cases, 2,777 controls)." . _:24372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2668570/"; rdfs:comment "Ten studies in the Epidemiology of Endometrial Cancer Consortium participated in this pooled analysis. The Epidemiology of Endometrial Cancer Consortium is an international consortium established to pool resources and data from many endometrial cancer studies in an effort to identify genetic and environmental risk factors for endometrial cancer. The participating studies in this pooled analysis were six population-based case-control studies (Estrogen, Diet, Genetics, and Endometrial Cancer; Fred Hutchinson Cancer Research Center case-control study; Women's Insights and Shared Experiences; Hawaii case-control study; Polish Endometrial Cancer Study;and Shanghai Endometrial Cancer Study)" . _:24382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://epi.grants.cancer.gov/eecc/"; rdfs:comment "Geography: 1 Asia, 25 North America, 10 Europe, 1 Australia" . _:24392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6085317/fullTextXML"; rdfs:comment "The 2695 cases and 2777 controls from the E2C2 consortium were genotyped using the Illumina Human OmniExpress array (2271 cases, 2219 controls from the United States) or the Illumina Human 660W array (424 cases, 558 controls from Poland)" . _:243a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90296493"; "A large-scale genome-wide cross-trait analysis for the effect of COVID-19 on female-specific cancers."; "PMID:37636041", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10450412/fullTextXML"; rdfs:comment "GWAS summary data of EC was obtained from a meta-analysis of the Endometrial Cancer Association Consortium (ECAC), the Epidemiology of Endometrial Cancer Consortium (E2C2), and the UK Biobank,49 involving 12,906 cases and 108,979 controls." . _:243b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An NCI-supported consortium, begun in 2006, of case-control and cohort studies in North America, Europe, Asia and Australia that combines data across its member studies, including in a genome-wide association study, to investigate the etiology of endometrial cancer."; "PMID:24096698", "https://epi.grants.cancer.gov/eecc/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:243c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2695; "women in stage 1 (discovery) of the 2013 E2C2 GWAS, from seven member studies"; "PMID:24096698"; rdfs:comment "Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies." . _:243d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2777; "women in stage 1 (discovery) of the 2013 E2C2 GWAS, from seven member studies"; "PMID:24096698"; rdfs:comment "Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies." . _:243e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5472; "women in stage 1 (discovery) of the 2013 E2C2 GWAS, from seven member studies"; "PMID:24096698"; rdfs:comment "Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies." . _:243f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "E2C2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9876, _:genid-371333f489424440b12a13b9d98ced822608-genid9878; , , ; ; "GCST90448709"; "A population-based study of the prevalence and risk factors of cognitive impairment and dementia in Chinese, Malay and Indian adults in Singapore, which drew participants aged 60 and over from the Singapore Epidemiology of Eye Diseases study (the Singapore Chinese Eye Study, 2009–2011, the Singapore Malay Eye Study, 2010–2013, and the Singapore Indian Eye Study, 2013–2015). Participants were screened with the Abbreviated Mental Test and a history of progressive forgetfulness, and those who screened positive were invited for neuropsychological testing and brain MRI."; 957; "EDIS", "Epidemiology of Dementia In Singapore", "Epidemiology of Dementia in Singapore Study", "Epidemiology of Dementia in Singapore study"; ; rdfs:label "Epidemiology of Dementia in Singapore"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9876 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9878 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9876; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7021682/fullTextXML"; rdfs:comment "The Epidemiology of Dementia in Singapore (EDIS) study is a subsample of a population-based study focusing on the risk factors and prevalence of dementia and cognitive impairment in the three major Asian ethnicities." . _:24412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9878; "cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7021682/fullTextXML"; rdfs:comment "The Epidemiology of Dementia in Singapore (EDIS) study is a subsample of a population-based study focusing on the risk factors and prevalence of dementia and cognitive impairment in the three major Asian ethnicities." . _:24422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4616471/fullTextXML"; rdfs:comment "The ongoing Epidemiology of Dementia in Singapore (EDIS) study draws participants from the Singapore Epidemiology of Eye Disease (SEED) study, a multiethnic population-based study among persons ages 40–85 years among Chinese (Singapore Chinese Eye Study [SCES]), Malay (Singapore Malay Eye Study [SiMES-2]), and Indians (Singapore Indian Eye Study [SINDI-2])." . _:24432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448709"; "Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome-Wide Association Study."; "PMID:38038215", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10727334/fullTextXML"; rdfs:comment "The authors thank the staff and participants of the ARIC, NOMAS, WHICAP, EDIS, MCS, and FHS studies for their important contributions." . _:24442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of the prevalence and risk factors of cognitive impairment and dementia in Chinese, Malay and Indian adults in Singapore, which drew participants aged 60 and over from the Singapore Epidemiology of Eye Diseases study (the Singapore Chinese Eye Study, 2009–2011, the Singapore Malay Eye Study, 2010–2013, and the Singapore Indian Eye Study, 2013–2015). Participants were screened with the Abbreviated Mental Test and a history of progressive forgetfulness, and those who screened positive were invited for neuropsychological testing and brain MRI."; "PMID:26061305", "PMID:32060376", "PMID:39179981"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 957; "screen-positive participants who consented to phase II (clinical, neuropsychological and MRI assessment)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7021682/fullTextXML"; rdfs:comment "Screen positives who provided consent (n = 957) participated in the second phase of the study, which included comprehensive clinical and neuropsychological evaluations, together with neuroimaging at the same session." . _:24462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9885; , ; ; "GCST90244158"; "A French case-control study of venous thrombosis whose cases, from medical centres in Grenoble, Marseille, Montpellier and Paris, had a documented idiopathic deep vein thrombosis or pulmonary embolism before the age of 50 without acquired risk factors or major thrombophilia defects, and whose controls were healthy French participants of the SU.VI.MAX study. It was genotyped genome-wide for genetic association studies of venous thrombosis."; 411; 1228; "EOVT", "Early Onset Venous Thrombosis"; ; rdfs:label "Early-Onset Venous Thrombosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9885 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9885; "venous thrombosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10506044/fullTextXML"; rdfs:comment "The Early Onset Venous Thrombosis (EOVT) study was a case-control sample of 339 patients with VTE and 1327 healthy French persons from the Suvimax study" . _:24482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607886/fullTextXML"; rdfs:comment "This work was based on two French GWAS on VT, the Early-Onset Venous Thrombosis (EOVT) and the Marseille Thrombosis Association (MARTHA) studies." . _:24492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244158"; "Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors."; "PMID:36154123" . _:244a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French case-control study of venous thrombosis whose cases, from medical centres in Grenoble, Marseille, Montpellier and Paris, had a documented idiopathic deep vein thrombosis or pulmonary embolism before the age of 50 without acquired risk factors or major thrombophilia defects, and whose controls were healthy French participants of the SU.VI.MAX study. It was genotyped genome-wide for genetic association studies of venous thrombosis."; "PMID:21980494", "PMID:23509962", "PMID:37399490"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:244b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 411; "VT patients and healthy SU.VI.MAX controls in the EOVT GWAS (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607886/fullTextXML"; rdfs:comment "The EOVT case–control study included 411 patients and 1,228 healthy subjects, while MARTHA was composed of 1,542 patients and 1,110 healthy subjects, all the individuals being of European origin, with the majority being of French descent." . _:244c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1228; "VT patients and healthy SU.VI.MAX controls in the EOVT GWAS (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607886/fullTextXML"; rdfs:comment "The EOVT case–control study included 411 patients and 1,228 healthy subjects, while MARTHA was composed of 1,542 patients and 1,110 healthy subjects, all the individuals being of European origin, with the majority being of French descent." . _:244d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EOVT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9893; , ; "GCST90128530"; "A study of women aged 20–79 attending the Family History Risk and Prevention Clinic in Manchester, United Kingdom, recruited in 2010–2012, who completed risk-factor questionnaires and consented to DNA testing for SNP analysis and to breast density measurement, set up to validate and improve the breast cancer risk prediction models used in family history clinics."; 320; 980; "FH-Risk", "FH-risk", "FHRISK", "FHRisk", "FHrisk"; ; rdfs:label "Family History Risk Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9893 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:244e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9893; "breast cancer"; "https://doi.org/10.3310/pgfar04110"; rdfs:comment "Since 1987, 10,177 women have been assessed in the FHC at the University Hospital of South Manchester on the basis of their family history of breast and other cancers and in terms of their hormonal and reproductive factors." . _:244f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7616752/fullTextXML"; rdfs:comment "To be eligible for the present study, women had to have been patients at a North West England, UK FHRPC and received a summary letter of their updated breast cancer risk consultation from the FH-Risk study." . _:24502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The FHRisk study was initiated in 2010 (Evans et al 2016)." . _:24512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of women aged 20–79 attending the Family History Risk and Prevention Clinic in Manchester, United Kingdom, recruited in 2010–2012, who completed risk-factor questionnaires and consented to DNA testing for SNP analysis and to breast density measurement, set up to validate and improve the breast cancer risk prediction models used in family history clinics."; "PMID:27559559", "PMID:39356295", "PMID:39516339"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 320; "women who gave direct consent to FH-Risk, recruited Nov 2010-Sep 2012 (breast cancer cases and controls)"; "https://doi.org/10.3310/pgfar04110"; rdfs:comment "Direct consent for FH-Risk was obtained for 320 cases and 980 controls (Figure 6)." . _:24532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 980; "women who gave direct consent to FH-Risk, recruited Nov 2010-Sep 2012 (breast cancer cases and controls)"; "https://doi.org/10.3310/pgfar04110"; rdfs:comment "Direct consent for FH-Risk was obtained for 320 cases and 980 controls (Figure 6)." . _:24542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH-Risk"; . _:24552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FH-risk"; . _:24562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHRISK"; . _:24572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHRisk"; . _:24582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FHrisk"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9905; , ; "GCST90837544"; "A cohort of patients with aortic valve stenosis, diagnosed by echocardiography or by a history of valve replacement for severe stenosis, recruited from the German Heart Center Munich and the University of Bonn/Marburg, Germany, and genotyped for studies of the genetics of aortic stenosis."; 5732; "GASC", "German aortic stenosis cohort"; ; rdfs:label "German Aortic Stenosis Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9905 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9905; "aortic stenosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/supplementaryFiles"; rdfs:comment "German Aortic Stenosis Cohort The German Aortic Stenosis Cohort recruited patients from the German Heart Center Munich and from the University of Bonn/Marburg and contains approximately 5732 participants with aortic valve stenosis recruited." . _:245a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/supplementaryFiles"; rdfs:comment "German Aortic Stenosis Cohort The German Aortic Stenosis Cohort recruited patients from the German Heart Center Munich and from the University of Bonn/Marburg and contains approximately 5732 participants with aortic valve stenosis recruited." . _:245b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837544"; "Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction."; "PMID:41419686", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/supplementaryFiles"; rdfs:comment "German Aortic Stenosis Cohort The German Aortic Stenosis Cohort recruited patients from the German Heart Center Munich and from the University of Bonn/Marburg and contains approximately 5732 participants with aortic valve stenosis recruited." . _:245c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with aortic valve stenosis, diagnosed by echocardiography or by a history of valve replacement for severe stenosis, recruited from the German Heart Center Munich and the University of Bonn/Marburg, Germany, and genotyped for studies of the genetics of aortic stenosis."; "PMID:41419686"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:245d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5732; "patients with aortic valve stenosis recruited (approximate)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02417-6/MediaObjects/41588_2025_2417_MOESM1_ESM.pdf"; rdfs:comment "The German Aortic Stenosis Cohort recruited patients from the German Heart Center Munich and from the University of Bonn/Marburg and contains approximately 5732 participants with aortic valve stenosis recruited." . _:245e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GASC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9912, _:genid-371333f489424440b12a13b9d98ced822608-genid9914; , ; ; "GCST90301368"; "A population-based study of stroke incidence, risk factors, treatment and outcomes in the biracial population of a five-county region of southwestern Ohio and northern Kentucky, United States, around Cincinnati, which ascertains all hospitalized and autopsied strokes and transient ischaemic attacks among residents during one-year study periods held since 1993 (July 1993 to June 1994, 1999, 2005, 2010 and 2015), to measure temporal trends in stroke incidence and outcome."; "GCNKSS", "Greater Cincinnati Northern Kentucky Stroke Study"; ; rdfs:label "Greater Cincinnati/Northern Kentucky Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:245f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9912; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9472883+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We are identifying all hospitalized and autopsied cases of stroke and transient ischemic attack (TIA) among the 1.3 million inhabitants of a five-county region of Greater Cincinnati/Northern Kentucky for the period 7/1/93-6/30/94." . _:24602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9914; "transient ischaemic attack"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9472883+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We are identifying all hospitalized and autopsied cases of stroke and transient ischemic attack (TIA) among the 1.3 million inhabitants of a five-county region of Greater Cincinnati/Northern Kentucky for the period 7/1/93-6/30/94." . _:24612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:24622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "GCNKSS: The Greater Cincinnati/Northern Kentucky Stroke Study (GCNKSS) was supported by the NIH (NS030678)." . _:24632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of stroke incidence, risk factors, treatment and outcomes in the biracial population of a five-county region of southwestern Ohio and northern Kentucky, United States, around Cincinnati, which ascertains all hospitalized and autopsied strokes and transient ischaemic attacks among residents during one-year study periods held since 1993 (July 1993 to June 1994, 1999, 2005, 2010 and 2015), to measure temporal trends in stroke incidence and outcome."; "PMID:28645938", "PMID:38533959", "PMID:38700029", "PMID:9472883"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCNKSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9920, _:genid-371333f489424440b12a13b9d98ced822608-genid9922; , ; ; "GCST90444397"; "Participants of the COVID-19 genetic studies of the Russian genetic testing company Genotek: its customers who consented to research use of their data and answered online questionnaires about COVID-19, studied for long COVID and, when aged 40 or over with non-severe COVID-19, as controls in a genome-wide association study of severe COVID-19 whose cases were patients hospitalised in Moscow and Ufa."; 6400; "Genotek"; ; rdfs:label "Genotek COVID-19 study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9920 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9920; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11446758/fullTextXML"; rdfs:comment "The participants of the study were selected based on responses to a questionnaire, adhering to the following criteria: consent was provided for the use of anonymized data in scientific research and individuals aged 40 years or above should self-report a COVID-19 diagnosis, confirmed by antibody tests, PCR tests, CT scans, or a physician's diagnosis." . _:24662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9922; "long COVID"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11446758/fullTextXML"; rdfs:comment "The participants of the study were selected based on responses to a questionnaire, adhering to the following criteria: consent was provided for the use of anonymized data in scientific research and individuals aged 40 years or above should self-report a COVID-19 diagnosis, confirmed by antibody tests, PCR tests, CT scans, or a physician's diagnosis." . _:24672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11446758/fullTextXML"; rdfs:comment "This research was approved by the Genotek Ethics Committee (protocol No15 “GWAS of severe COVID-19 in the Russian population”) and performed in accordance with the Declaration of Helsinki." . _:24682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444397"; "GWAS and polygenic risk score of severe COVID-19 in Eastern Europe."; "PMID:39364016", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11446758/fullTextXML"; rdfs:comment "In our study, the patient cases were sourced from hospitals with an average age of 64.77 years, while controls were selected from the database of a genetic testing company, Genotek, with an average age of ~35 years." . _:24692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Participants of the COVID-19 genetic studies of the Russian genetic testing company Genotek: its customers who consented to research use of their data and answered online questionnaires about COVID-19, studied for long COVID and, when aged 40 or over with non-severe COVID-19, as controls in a genome-wide association study of severe COVID-19 whose cases were patients hospitalised in Moscow and Ufa."; "PMID:39364016", "PMID:40399555"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:246a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6400; "Genotek customers used as controls (mild to moderate COVID-19) in the severe COVID-19 GWAS (analysed subset), 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11446758/fullTextXML"; rdfs:comment "Genotek customer data were added to the study cohort for further analysis as controls (N = 6,400)." . _:246b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genotek"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9929, _:genid-371333f489424440b12a13b9d98ced822608-genid9931; , , ; , ; "GCST90824163"; "A collection of DNA and clinical data for genetic association studies of diabetic nephropathy in type 1 diabetes, assembled with support from the JDRF, NIDDK and CDC by the Joslin Diabetes Center, from patients of its clinic in New England, and by the George Washington University Biostatistics Center, from volunteers across the United States and Canada. Participants aged 18–59 with type 1 diabetes diagnosed before age 31 were enrolled as cases with diabetic nephropathy (persistent proteinuria or end-stage renal disease) or as controls with normoalbuminuria after at least 15 years of diabetes, with both parents enrolled where possible to form family trios."; 935; 944; 3075; "Genetics of Kidney in Diabetes", "Genetics of Kidneys in Diabetes", "Genetics of Kidneys in Diabetes US", "Genetics of Kidneys in Diabetes US Study", "Genetics of Kidneys in Diabetes study", "GoKIND", "GoKinD", "GoKinD US"; ; rdfs:label "Genetics of Kidneys in Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9929 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9931 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:246c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9929; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16775037+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes." . _:246d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9931; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16775037+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A large number of individuals with type 1 diabetes were screened to identify two subsets, one with clear-cut kidney disease and another with normal renal status despite long-term diabetes." . _:246e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2682673/fullTextXML"; rdfs:comment "The George Washington University (GWU) Biostatistics Center coordinated the recruitment of volunteers (through mass media advertisement) living throughout the U.S. (excluding New England) and Canada to 1 of 27 clinical centers located across the U.S. and Canada." . _:246f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90824163"; "Genetic association and machine learning improve the prediction of type 1 diabetes risk."; "PMID:42062540", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13175890/supplementaryFiles"; rdfs:comment "GoKinD The Genetics of Kidneys in Diabetes (GoKinD) Study was conducted by the GoKinD Investigators and supported by the Juvenile Diabetes Research Foundation, the CDC, and the Special Statutory Funding Program for Type 1 Diabetes Research administered by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)." . _:24702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA and clinical data for genetic association studies of diabetic nephropathy in type 1 diabetes, assembled with support from the JDRF, NIDDK and CDC by the Joslin Diabetes Center, from patients of its clinic in New England, and by the George Washington University Biostatistics Center, from volunteers across the United States and Canada. Participants aged 18–59 with type 1 diabetes diagnosed before age 31 were enrolled as cases with diabetic nephropathy (persistent proteinuria or end-stage renal disease) or as controls with normoalbuminuria after at least 15 years of diabetes, with both parents enrolled where possible to form family trios."; "PMID:16775037", "PMID:19252134"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 935; "participants (case and control probands, singletons and trio members including parents) as of November 2005"; "PMID:16775037"; rdfs:comment "As of November 2005, GoKinD included 3075 participants who comprise 671 case singletons, 623 control singletons, 272 case trios, and 323 control trios." . _:24722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 944; "participants (case and control probands, singletons and trio members including parents) as of November 2005"; "PMID:16775037"; rdfs:comment "As of November 2005, GoKinD included 3075 participants who comprise 671 case singletons, 623 control singletons, 272 case trios, and 323 control trios." . _:24732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3075; "participants (case and control probands, singletons and trio members including parents) as of November 2005"; "PMID:16775037"; rdfs:comment "As of November 2005, GoKinD included 3075 participants who comprise 671 case singletons, 623 control singletons, 272 case trios, and 323 control trios." . _:24742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GoKIND"; . _:24752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GoKinD"; . _:24762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GoKinD US"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9942; , ; ; "GCST90301368"; "A hospital-based series of patients with ischaemic stroke admitted to the stroke unit of the Department of Neurology of the Medical University of Graz, Austria, investigated with brain imaging and a standardised diagnostic protocol and subtyped by stroke neurologists, whose cases are compared in genetic studies of ischaemic stroke with participants of the Austrian Stroke Prevention Study from the same catchment area as controls."; 685; "GRAZ"; ; rdfs:label "Graz Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9942 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9942; "ischaemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "GRAZ Between 1994 and 2003, subjects with first-ever and recurrent ischemic strokes admitted to the stroke unit of the Department of Neurology, Medical University of Graz (Graz, Austria) were included." . _:24782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:24792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "The Medical University of Graz supports the databases of the Graz Stroke Study and the Austrian Stroke Prevention Study." . _:247a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based series of patients with ischaemic stroke admitted to the stroke unit of the Department of Neurology of the Medical University of Graz, Austria, investigated with brain imaging and a standardised diagnostic protocol and subtyped by stroke neurologists, whose cases are compared in genetic studies of ischaemic stroke with participants of the Austrian Stroke Prevention Study from the same catchment area as controls."; "PMID:23041239", "PMID:24021684"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:247b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 685; "ischaemic stroke cases recruited 1992-2011, contributed to SiGN (as of April 2013)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "GRAZ Graz, Austria Hospital-based 1992–2011 685 19–101 41 100 0" . _:247c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRAZ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9949; , ; "GCST90085699"; "A prospective clinical cohort of people newly diagnosed with head and neck cancer, recruited before treatment at NHS centres across the United Kingdom and coordinated from Bristol, with health, lifestyle, quality-of-life and sexual-history questionnaires, clinical data, blood, saliva and tumour tissue samples and follow-up, set up to evaluate the centralisation of head and neck cancer care and as a biomedical resource for translational and prognostic research."; 5511; "HN5000", "Head and Neck 5000 study", "Head and neck 5000"; ; rdfs:label "Head and Neck 5000"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9949 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:247d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9949; "head and neck cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4301458/fullTextXML"; rdfs:comment "Head and Neck 5000 is an observational study that recruited people with head and neck cancer from across the United Kingdom." . _:247e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4301458/fullTextXML"; rdfs:comment "Head and Neck 5000 is an observational study that recruited people with head and neck cancer from across the United Kingdom." . _:247f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90085699"; "Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer."; "PMID:34642315", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8511029/fullTextXML"; rdfs:comment "This publication presents data from the Head and Neck 5000 study." . _:24802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective clinical cohort of people newly diagnosed with head and neck cancer, recruited before treatment at NHS centres across the United Kingdom and coordinated from Bristol, with health, lifestyle, quality-of-life and sexual-history questionnaires, clinical data, blood, saliva and tumour tissue samples and follow-up, set up to evaluate the centralisation of head and neck cancer care and as a biomedical resource for translational and prognostic research."; "PMID:25519023"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5511; "people enrolled April 2011 - December 2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5111771/fullTextXML"; rdfs:comment "We enrolled 5511 people into the study." . _:24822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HN5000"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9956, _:genid-371333f489424440b12a13b9d98ced822608-genid9958, _:genid-371333f489424440b12a13b9d98ced822608-genid9960; , , , , , ; ; "GCST90085699"; "A multicentre hospital-based case–control study of cancers of the upper aerodigestive tract (oral cavity, pharynx, larynx and oesophagus), coordinated by the International Agency for Research on Cancer in Bucharest (Romania), Lodz (Poland), Moscow (Russia), Banská Bystrica (Slovakia), and Olomouc and Prague (Czech Republic) to investigate genetic susceptibility to these cancers and its interaction with alcohol and tobacco use. It is the upper aerodigestive tract arm of IARC's central European multicentre case–control study of lung, head and neck and kidney cancers, and part of its controls are shared with the lung cancer arm."; 811; 1083; "CE", "Central Europe study", "IARC Central Europe study", "IARCCES"; ; rdfs:label "International Agency for Research on Cancer Central Europe Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9956 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9958 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid9960 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9956; "upper aerodigestive tract cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16614111+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multicenter case-control study comprising 811 upper aerodigestive tract cancer cases and 1,083 controls was conducted in: Bucharest (Romania), Lodz (Poland), Moscow (Russia), Banska Bystrika (Slovakia), and Olomouc and Prague (Czech Republic)." . _:24842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9958; "alcohol consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16614111+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This increase is likely to be due to patterns of alcohol and tobacco consumption. Genetic susceptibility to upper aerodigestive tract cancer in relation to such exposures is an important aspect that should be investigated among populations in this region." . _:24852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9960; "tobacco consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16614111+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This increase is likely to be due to patterns of alcohol and tobacco consumption. Genetic susceptibility to upper aerodigestive tract cancer in relation to such exposures is an important aspect that should be investigated among populations in this region." . _:24862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3060072/fullTextXML"; rdfs:comment "For the central European lung cancer study, the controls overlapped with the central European UADT cancer study for Bucharest (Romania), Lodz (Poland), Moscow (Russia), Banska Bystrika (Slovakia), and Olomouc and Prague (Czech Republic)." . _:24872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90085699"; "Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer."; "PMID:34642315", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8511029/fullTextXML"; rdfs:comment "The IARC Central Europe study was supported by the European Commission’s INCO-COPERNICUS Program (IC15-CT98-0332), US NIH/National Cancer Institute grant CA92039 and World Cancer Research Foundation grant WCRF 99A28." . _:24882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre hospital-based case–control study of cancers of the upper aerodigestive tract (oral cavity, pharynx, larynx and oesophagus), coordinated by the International Agency for Research on Cancer in Bucharest (Romania), Lodz (Poland), Moscow (Russia), Banská Bystrica (Slovakia), and Olomouc and Prague (Czech Republic) to investigate genetic susceptibility to these cancers and its interaction with alcohol and tobacco use. It is the upper aerodigestive tract arm of IARC's central European multicentre case–control study of lung, head and neck and kidney cancers, and part of its controls are shared with the lung cancer arm."; "PMID:16614111", "PMID:21437268", "PMID:22655231"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 811; "upper aerodigestive tract cancer cases and controls (2002)"; "PMID:16614111"; rdfs:comment "A multicenter case-control study comprising 811 upper aerodigestive tract cancer cases and 1,083 controls was conducted in: Bucharest (Romania), Lodz (Poland), Moscow (Russia), Banska Bystrika (Slovakia), and Olomouc and Prague (Czech Republic)." . _:248a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1083; "upper aerodigestive tract cancer cases and controls (2002)"; "PMID:16614111"; rdfs:comment "A multicenter case-control study comprising 811 upper aerodigestive tract cancer cases and 1,083 controls was conducted in: Bucharest (Romania), Lodz (Poland), Moscow (Russia), Banska Bystrika (Slovakia), and Olomouc and Prague (Czech Republic)." . _:248b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CE"; . _:248c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IARCCES"; . a owl:NamedIndividual, ; , ; "GCST90054778"; "A combined sample of two longitudinal family studies of the Institute for Behavioral Genetics at the University of Colorado Boulder, United States: the Colorado Adoption Project, a prospective adoption study of behavioural development begun in 1975, and the Colorado Twin Registry, a population-based registry of twins born since 1968 that has recruited since 1982. Their genotyped participants are analysed together in genome-wide association meta-analyses of childhood and adolescent psychiatric traits."; "IBG"; ; rdfs:label "Institute for Behavioral Genetics"@en . _:248d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23092589+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Colorado Twin Registry (CTR) is a population-based registry housed at the Institute for Behavioral Genetics at the University of Colorado." . _:248e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90054778"; "Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing Symptoms."; "PMID:35378236", "https://ars.els-cdn.com/content/image/1-s2.0-S0890856722001794-mmc2.docx"; rdfs:comment "Two cohort studies from the Institute for Behavioral Genetics (IBG) supplied information for this project: The Colorado Adoption Project (http://ibgwww.colorado.edu/cap/) and the Colorado Twin Registry (https://www.colorado.edu/ibg/research/human-research-studies/colorado-twin-registry)" . _:248f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A combined sample of two longitudinal family studies of the Institute for Behavioral Genetics at the University of Colorado Boulder, United States: the Colorado Adoption Project, a prospective adoption study of behavioural development begun in 1975, and the Colorado Twin Registry, a population-based registry of twins born since 1968 that has recruited since 1982. Their genotyped participants are analysed together in genome-wide association meta-analyses of childhood and adolescent psychiatric traits."; "PMID:23092589", "PMID:23158098", "PMID:35378236"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9973; , , , , , , , , , , , , , , , ; , , , , ; "GCST90278200"; "An international collaboration of the HIV host genetics community, established to combine all available genome-wide SNP data sets on people living with HIV-1 worldwide, which pools genotype and clinical data from HIV cohorts and studies in North America, Europe, Australia and Africa, many of them natural-history cohorts, to study host genetic influences on HIV-1 acquisition, viral load and spontaneous control."; 9705; "ICGH", "International Consortium for the Genomics of HIV"; ; rdfs:label "International Collaboration for the Genomics of HIV"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9973 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9973; "HIV-1 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The International Collaboration for the Genomics of HIV was established as a platform to combine all available genome-wide SNP data sets obtained on HIV-1 infected individuals worldwide." . _:24922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The AIDS clinical Trial Group (ACTG) in the USA" . _:24932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The AIDS Linked to the IntraVenous Experience (ALIVE) study is a natural history study following the incidence and progression of HIV infection among intravenous drug users (IDUs) in Baltimore, MD." . _:24942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Center for HIV/AIDS Vaccine Immunology (CHAVI) in the USA" . _:24952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10749428/fullTextXML"; rdfs:comment "The GRIV cohort, which includes Long-Term Non-Progressors (LTNP) and Elite Controllers (ECs), is part of the ICGH consortium (9)." . _:24962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Hemophilia Growth and Development Study (HGDS) in the USA" . _:24972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The Multicenter AIDS Cohort Study (MACS) DESCRIPTION: The Multicenter AIDS Cohort Study (MACS) is an ongoing prospective study of the natural and treated histories of HIV-1 infection in homosexual and bisexual men conducted by sites located in Baltimore, Chicago, Pittsburgh and Los Angeles." . _:24982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The first Multicenter Hemophilia Cohort Study (MHCS-I) evaluated and prospectively followed patients with hemophilia or a related coagulation disorder." . _:24992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10749428/fullTextXML"; rdfs:comment "The list of the ICGH cohorts/participants is as follows : 1. The AIDS clinical Trial Group (ACTG) in the USA 2. The AIDS Linked to the IntraVenous Experience (ALIVE) Cohort in Baltimore, USA 3. The Amsterdam Cohort Studies on HIV infection and AIDS (ACS) in the Netherlands 4. The ANRS CO18 in France 5. The ANRS PRIMO Cohort in France 6. The Center for HIV/AIDS Vaccine Immunology (CHAVI) in the USA 7. The Danish HIV Cohort Study in Denmark" . _:249a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10749428/fullTextXML"; rdfs:comment "The list of the ICGH cohorts/participants is as follows : 1. The AIDS clinical Trial Group (ACTG) in the USA 2. The AIDS Linked to the IntraVenous Experience (ALIVE) Cohort in Baltimore, USA 3. The Amsterdam Cohort Studies on HIV infection and AIDS (ACS) in the Netherlands 4. The ANRS CO18 in France 5. The ANRS PRIMO Cohort in France 6. The Center for HIV/AIDS Vaccine Immunology (CHAVI) in the USA 7. The Danish HIV Cohort Study in Denmark 8. The Genetic and Immunological Studies of European and African HIV-1+ Long Term Non-Progressors (GISHEAL) Study, in France and Italy" . _:249b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The IrsiCaixa Foundation Acute/Recent HIV-1 Infection cohort in Barcelona, Spain" . _:249c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Hospital Clinic-IDIBAPS Acute/Recent HIV-1 Infection cohort in Barcelona, Spain" . _:249d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Icona Foundation Study in Italy" . _:249e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Modena Cohort in Modena, Italy" . _:249f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Pumwani Sex Workers Cohort in Nairobi, Kenya, and Winnipeg, Canada" . _:24a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The US military HIV Natural History Study (NHS)" . _:24a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The West Australian HIV cohort Study" . _:24a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The International Collaboration for the Genomics of HIV was established as a platform to combine all available genome-wide SNP data sets obtained on HIV-1 infected individuals worldwide. Patient material was collected at multiple clinical centers across North America, Europe, Australia and Africa (a list of contributing cohort studies and centers is given at the end of the paper)." . _:24a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90278200"; "Multiancestry sex-stratified genomic associations with HIV viral load and controller status from the ICGH."; "PMID:37097752", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37097752+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To address this, we performed a sex-stratified genome-wide association study using data from the ICGH." . _:24a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaboration of the HIV host genetics community, established to combine all available genome-wide SNP data sets on people living with HIV-1 worldwide, which pools genotype and clinical data from HIV cohorts and studies in North America, Europe, Australia and Africa, many of them natural-history cohorts, to study host genetic influences on HIV-1 acquisition, viral load and spontaneous control."; "PMID:23935489", "PMID:37097752"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9705; "HIV-1-infected participants with genotype and clinical data pooled in the ICGH viral-load analysis (2023)"; "PMID:37097752"; rdfs:comment "Although it is the largest collection of genomic data in HIV, this multiethnic sample of 9,705 people is 81.3% male." . _:24a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid9996; ; , , , , , , , ; "GCST90841381"; "An international consortium of research groups studying the genetics of endometriosis, which pools genome-wide association data from studies in Europe, the United States, Australia and Japan, with cases identified by surgical confirmation, medical records or self-report, in meta-analyses of endometriosis risk."; 60674; 701926; 762600; "IEGC"; ; rdfs:label "International Endometriosis Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid9996 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841381"; "Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations."; "PMID:42056605", "https://europepmc.org/api/getPdf?pmcid=PMC13195585"; rdfs:comment "The IEGC is a collaborative effort that aggregates data from multiple international studies to investigate the genetic factors of endometriosis4." . _:24a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of research groups studying the genetics of endometriosis, which pools genome-wide association data from studies in Europe, the United States, Australia and Japan, with cases identified by surgical confirmation, medical records or self-report, in meta-analyses of endometriosis risk."; "PMID:32423502", "PMID:36914876", "PMID:42056605"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60674; "cases and controls in the 2023 IEGC GWAS meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13195585/"; rdfs:comment "The two most recent GWAS analyses of endometriosis, comprising 928,413 participants (including 44,125 cases; 30% non-European ancestry)7 and 762,600 participants of European descent (including 60,674 cases)4, identified up to 45 loci." . _:24aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 701926; "cases and controls in the 2023 IEGC GWAS meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13195585/"; rdfs:comment "The two most recent GWAS analyses of endometriosis, comprising 928,413 participants (including 44,125 cases; 30% non-European ancestry)7 and 762,600 participants of European descent (including 60,674 cases)4, identified up to 45 loci." . _:24ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 762600; "cases and controls in the 2023 IEGC GWAS meta-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13195585/"; rdfs:comment "The two most recent GWAS analyses of endometriosis, comprising 928,413 participants (including 44,125 cases; 30% non-European ancestry)7 and 762,600 participants of European descent (including 60,674 cases)4, identified up to 45 loci." . _:24ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IEGC"; . _:24ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid9996; "endometriosis"; "https://europepmc.org/api/getPdf?pmcid=PMC13195585"; rdfs:comment "The IEGC is a collaborative effort that aggregates data from multiple international studies to investigate the genetic factors of endometriosis4." . _:24ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01323-z/MediaObjects/41588_2023_1323_MOESM1_ESM.pdf"; rdfs:comment "Oxford Endometriosis Gene Study (OXEGENE): Approved by the Oxford regional multi-center and local research ethics committees." . _:24af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10042257/"; rdfs:comment "We conducted a meta-analysis of 24 GWAS with a total effective sample size of 206,106 (60,674 cases and 701,926 controls) of European (98%: Europe, USA, Australia), and East Asian (2%: Japan) ancestry." . a owl:NamedIndividual, ; , ; ; "GCST90451683"; "A population-based cohort of adults descended from the inhabitants of the upper Val Borbera, a genetically isolated valley in the Apennine mountains of Piedmont, north-west Italy, recruited on the basis of their ancestry in the valley's villages and nearby areas, with clinical and anthropometric data collected by physicians of San Raffaele Hospital, Milan, to identify genes and variants underlying common disorders and quantitative traits; one of the isolated populations of the Italian Network of Genetic Isolates."; 1803; "INGI-VB", "INGI-Val_Borbera", "Italian Network on Genetic Isolates-Val Borbera", "VB", "VBI", "Val Borbera", "Val Borbera cohort", "Val Borbera study"; ; rdfs:label "INGI-Val Borbera"@en . _:24b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2761731/fullTextXML"; rdfs:comment "The aim of the present study is to characterize the population isolate of the upper Val Borbera, a large valley localized within the Apennine mountains of Piedmont, in the Northwest of Italy, geographically secluded from the surrounding areas." . _:24b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451683"; "Novel loci and biomedical consequences of iron homoeostasis variation."; "PMID:39643614", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11624196/supplementaryFiles"; rdfs:comment "The INGI‐Val Borbera (INGI-VB) study comprises 1,785 healthy participants enrolled in the Val Borbera Valley, a geographically isolated region located within the Apennine Mountains in Northwest Italy." . _:24b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adults descended from the inhabitants of the upper Val Borbera, a genetically isolated valley in the Apennine mountains of Piedmont, north-west Italy, recruited on the basis of their ancestry in the valley's villages and nearby areas, with clinical and anthropometric data collected by physicians of San Raffaele Hospital, Milan, to identify genes and variants underlying common disorders and quantitative traits; one of the isolated populations of the Italian Network of Genetic Isolates."; "PMID:19847309", "PMID:37174278"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1803; "adults recruited in Val Borbera (2009)"; "PMID:19847309"; rdfs:comment "As a part of a research program aimed at the identification of genes and variants associated to common disorders, we present here the analysis of a cohort of 1803 adult subjects from Val Borbera, selected based on their ancestry to represent the general population in the valley." . _:24b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-VB"; . _:24b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INGI-Val_Borbera"; . _:24b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VB"; . _:24b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VBI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10014; , ; ; "GCST90301368"; "A prospective multicentre case–control study, funded by the US National Institute of Neurological Disorders and Stroke, of adults with a first-ever ischaemic stroke confirmed by CT or MRI and enrolled within 30 days of onset at five academic medical centres in the United States, with centrally adjudicated stroke subtypes, and of stroke-free controls matched by age and sex and recruited mainly among the patients' spouses and unrelated friends, to investigate genetic risk factors for ischaemic stroke and its subtypes."; 673; 673; "ISGS", "Ischemic Stroke Genetic Study"; ; rdfs:label "Ischemic Stroke Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10014 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10014; "ischaemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17845914+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ISGS is a prospective case-control genetic association study of patients with first-ever ischemic stroke at 5 US tertiary stroke centers." . _:24b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17845914+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ISGS is a prospective case-control genetic association study of patients with first-ever ischemic stroke at 5 US tertiary stroke centers." . _:24ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "ISGS and SWISS: The Ischemic Stroke Genetics Study (ISGS) was supported by the NINDS (R01 NS42733; PI Dr Meschia)." . _:24bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre case–control study, funded by the US National Institute of Neurological Disorders and Stroke, of adults with a first-ever ischaemic stroke confirmed by CT or MRI and enrolled within 30 days of onset at five academic medical centres in the United States, with centrally adjudicated stroke subtypes, and of stroke-free controls matched by age and sex and recruited mainly among the patients' spouses and unrelated friends, to investigate genetic risk factors for ischaemic stroke and its subtypes."; "PMID:12848902", "PMID:17845914"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 673; "ischaemic stroke patients enrolled (cases only; no enrolled-control count found), 2009"; "PMID:19602474"; rdfs:comment "A total of 673 patients were enrolled; 50.5% reported aerobic physical activity less than once a week, 28.5% reported aerobic physical activity one to three times weekly, and 21% reported aerobic physical activity four times a week or more." . _:24bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 673; "ischaemic stroke patients enrolled (cases only; no enrolled-control count found), 2009"; "PMID:19602474"; rdfs:comment "A total of 673 patients were enrolled; 50.5% reported aerobic physical activity less than once a week, 28.5% reported aerobic physical activity one to three times weekly, and 21% reported aerobic physical activity four times a week or more." . _:24be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10022; , ; ; "GCST90104709"; "A prospective cohort of women recruited in 2011–2013 when attending mammography screening or clinical mammography at four hospitals in Sweden (in Stockholm, Helsingborg, Lund and Landskrona), with questionnaires, mammograms, blood samples and linkage to Swedish health registers, established to determine how mammographic density, genetic factors and lifestyle influence breast cancer risk and to build risk prediction models for individualised prevention and screening."; 70877; "KARMA", "KARMA study", "KARolinska MAmmography Project for Risk Prediction of Breast Cancer", "Karolinska Mammography Project for Risk Prediction of Breast Cancer – Cohort Study"; ; rdfs:label "Karolinska Mammography Project for Risk Prediction of Breast Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10022 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10022; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837703/fullTextXML"; rdfs:comment "The KARMA study aims to study and determine the roles and interactions of mammographic density, genetic determinants and lifestyle in the risk of breast cancer to build a comprehensive risk prediction model including all known and established risk factors for breast cancer." . _:24c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909613/fullTextXML"; rdfs:comment "Briefly, the KARMA Cohort consists of 70,877 women performing a screening or clinical mammogram at 4 hospitals in Sweden during the period October 2010–March 2013 [20]." . _:24c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104709"; "A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16."; "PMID:35267517", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909613/fullTextXML"; rdfs:comment "Briefly, the KARMA Cohort consists of 70,877 women performing a screening or clinical mammogram at 4 hospitals in Sweden during the period October 2010–March 2013 [20]." . _:24c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of women recruited in 2011–2013 when attending mammography screening or clinical mammography at four hospitals in Sweden (in Stockholm, Helsingborg, Lund and Landskrona), with questionnaires, mammograms, blood samples and linkage to Swedish health registers, established to determine how mammographic density, genetic factors and lifestyle influence breast cancer risk and to build risk prediction models for individualised prevention and screening."; "PMID:28180256"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 70877; "women recruited 2011-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837703/fullTextXML"; rdfs:comment "During the recruitment period, a total of 210 233 women were invited to participate in the KARMA study and 70 877 women (34%) joined the study (Figure 2)." . _:24c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KARMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10029, _:genid-371333f489424440b12a13b9d98ced822608-genid10031; , , ; , , ; "GCST90128530"; "A research resource of epidemiological, family-history, lifestyle and clinical data and biospecimens collected since 1997 from affected and unaffected members of families with multiple cases of breast and/or ovarian cancer, recruited by research nurses through family cancer clinics in Australia and New Zealand, and made available to researchers anywhere in the world for studies of familial breast cancer."; 11422; "Kathleen Cuningham Consortium for Research into Familial Breast Cancer", "Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer", "kConFab"; ; rdfs:label "Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10029 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10031 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10029; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16507150+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Based in Australia, the primary aim of kConFab is to facilitate high-quality research by amassing a large and comprehensive resource of epidemiological and clinical data with biospecimens from individuals at high risk of breast and/or ovarian cancer, and from their close relatives." . _:24c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10031; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16507150+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Based in Australia, the primary aim of kConFab is to facilitate high-quality research by amassing a large and comprehensive resource of epidemiological and clinical data with biospecimens from individuals at high risk of breast and/or ovarian cancer, and from their close relatives." . _:24c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15217503+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "These families were ascertained in Australia through the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer." . _:24c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "kConFab was initiated in 1997, and with the help of the Family Cancer Centres in Australia and New Zealand began enrolling families with a strong history of breast and breast/ovarian cancer." . _:24c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "kConFab was initiated in 1997, and with the help of the Family Cancer Centres in Australia and New Zealand began enrolling families with a strong history of breast and breast/ovarian cancer." . _:24ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research resource of epidemiological, family-history, lifestyle and clinical data and biospecimens collected since 1997 from affected and unaffected members of families with multiple cases of breast and/or ovarian cancer, recruited by research nurses through family cancer clinics in Australia and New Zealand, and made available to researchers anywhere in the world for studies of familial breast cancer."; "PMID:16507150", "https://www.kconfab.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11422; "people (from the first 822 families) with data held (2006)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1413975/"; rdfs:comment "Data are available for 11,422 consented participants, including 900 carriers of pathogenic or splice site BRCA1 or BRCA2 mutations, and germline DNA biospecimens for 7,389, including 773 carriers." . _:24cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kConFab"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10039; , ; ; "GCST90301368"; "An ongoing, prospective, single-centre, hospital-based study of consecutive consenting patients of European origin with first-ever or recurrent ischaemic stroke admitted since 2002 to the Stroke Unit of the Jagiellonian University in Krakow, Poland, with stroke subtypes assigned by TOAST and CCS criteria, together with unrelated stroke-free controls from the population of southern Poland; one of the genetic research centres of the Stroke Genetics Network."; 1487; 1487; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Krakow"; "KRAKOW", "Krakow"; , ; rdfs:label "Krakow stroke genetics study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10039 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10039; "ischaemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "KRAKOW All consecutive subjects with ischemic stroke (fulfilling WHO criteria12 (3)) who were admitted to the Stroke Unit at the Jagiellonian University (Krakow, Poland) and who provided informed consent were included in the study." . _:24ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "All consecutive subjects with ischemic stroke (fulfilling WHO criteria12 (3)) who were admitted to the Stroke Unit at the Jagiellonian University (Krakow, Poland) and who provided informed consent were included in the study." . _:24cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "KRAKOW: Phenotypic data and genetic specimens collection were funded by the grant from the Polish Ministry of Science and Higher Education for Leading National Research Centers (KNOW) and by the grants from the Jagiellonian University Medical College in Krakow, Poland: K/ZDS/002848, K/ZDS/003844." . _:24d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing, prospective, single-centre, hospital-based study of consecutive consenting patients of European origin with first-ever or recurrent ischaemic stroke admitted since 2002 to the Stroke Unit of the Jagiellonian University in Krakow, Poland, with stroke subtypes assigned by TOAST and CCS criteria, together with unrelated stroke-free controls from the population of southern Poland; one of the genetic research centres of the Stroke Genetics Network."; "PMID:24021684", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1487; "ischaemic stroke cases phenotyped for SiGN as of April 2013 (cases only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "KRAKOW Krakow, Poland Hospital-based 2001–2011 1487 19–100 48 100 0" . _:24d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1487; "ischaemic stroke cases phenotyped for SiGN as of April 2013 (cases only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "KRAKOW Krakow, Poland Hospital-based 2001–2011 1487 19–100 48 100 0" . _:24d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KRAKOW"; . _:24d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Krakow"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10048, _:genid-371333f489424440b12a13b9d98ced822608-genid10050; , ; ; "GCST90301368"; "A prospective hospital-based study of patients of European descent with cerebral ischaemia (a clinical stroke with imaging confirmation, or a transient ischaemic attack with a new ischaemic lesion on diffusion-weighted imaging) admitted to the Stroke Unit of the University Hospitals Leuven, Belgium, from 2005 to 2009, with standardised diagnostic work-up and TOAST subtyping, together with controls recruited from the same population; one of the genetic research centres of the Stroke Genetics Network."; 524; 524; "LEUVEN", "LSGS", "Leuven Stroke genetics study"; ; rdfs:label "Leuven Stroke Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10048 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10050 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10048; "transient ischaemic attack"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases of European descent with cerebral ischemia, defined as a clinical stroke with imaging confirmation or a TIA with a new ischemic lesion on diffusion-weighted imaging, who were admitted to the Stroke Unit of the University Hospitals (Leuven, Belgium) were enrolled in the LSGS between 2005 and 2009." . _:24d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10050; "ischaemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases of European descent with cerebral ischemia, defined as a clinical stroke with imaging confirmation or a TIA with a new ischemic lesion on diffusion-weighted imaging, who were admitted to the Stroke Unit of the University Hospitals (Leuven, Belgium) were enrolled in the LSGS between 2005 and 2009." . _:24d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases of European descent with cerebral ischemia, defined as a clinical stroke with imaging confirmation or a TIA with a new ischemic lesion on diffusion-weighted imaging, who were admitted to the Stroke Unit of the University Hospitals (Leuven, Belgium) were enrolled in the LSGS between 2005 and 2009." . _:24d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "LEUVEN: The Leuven Stroke genetics study was supported by personal research funds from the Department of Neurology of the University Hospitals Leuven." . _:24d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective hospital-based study of patients of European descent with cerebral ischaemia (a clinical stroke with imaging confirmation, or a transient ischaemic attack with a new ischaemic lesion on diffusion-weighted imaging) admitted to the Stroke Unit of the University Hospitals Leuven, Belgium, from 2005 to 2009, with standardised diagnostic work-up and TOAST subtyping, together with controls recruited from the same population; one of the genetic research centres of the Stroke Genetics Network."; "PMID:24021684", "PMID:29867722", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 524; "cerebral ischaemia cases phenotyped for SiGN as of April 2013 (cases only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "LEUVEN Leuven, Belgium Hospital-based 2005–2009 524 18–97 42 100 0" . _:24db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 524; "cerebral ischaemia cases phenotyped for SiGN as of April 2013 (cases only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "LEUVEN Leuven, Belgium Hospital-based 2005–2009 524 18–97 42 100 0" . _:24dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LEUVEN"; . _:24dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LSGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10059; , , , , , ; "GCST90461907"; "A multicentre, clinic-based case-control study of prostate cancer run since 2016 by the Men of African Descent and Carcinoma of the Prostate (MADCaP) Network at seven accrual centres in Ghana, Nigeria, Senegal and South Africa, with partner institutions in the United States, which under common eligibility criteria, instruments and biosample protocols enrols men over 30 who self-identify as black African: incident, histologically confirmed prostate cancer cases from urology and oncology clinics, and cancer-free controls frequency-matched by age from other clinics in the same catchment areas, to study the genetics and epidemiology of prostate cancer in sub-Saharan Africa."; 2505; 2222; "MADCaP", "MADCap", "Men of African Descent and Carcinoma of the Prostate Consortium", "Men of African Descent and Carcinoma of the Prostate Network"; ; rdfs:label "Men of African Descent and Carcinoma of the Prostate"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10059 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10059; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30260755+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We tested this infrastructure by collecting epidemiologic, medical record, and genomic data from a total of 311 patients with CaP and 218 matched controls recruited at the seven SSA centers." . _:24df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6223491/fullTextXML"; rdfs:comment "Figure 1 depicts the MADCaP Network’s organizational structure, which has seven participant accrual centers in Ghana, Nigeria, Senegal, and South Africa with several SSA and US centers partnered to enhance capacity building and offer mentorship." . _:24e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90461907"; "Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups."; "PMID:39930085", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11821537/fullTextXML"; rdfs:comment "Local and national IRBs approved Men of African Descent and Carcinoma of the Prostate (MADCaP)." . _:24e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, clinic-based case-control study of prostate cancer run since 2016 by the Men of African Descent and Carcinoma of the Prostate (MADCaP) Network at seven accrual centres in Ghana, Nigeria, Senegal and South Africa, with partner institutions in the United States, which under common eligibility criteria, instruments and biosample protocols enrols men over 30 who self-identify as black African: incident, histologically confirmed prostate cancer cases from urology and oncology clinics, and cancer-free controls frequency-matched by age from other clinics in the same catchment areas, to study the genetics and epidemiology of prostate cancer in sub-Saharan Africa."; "PMID:30260755"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2505; "prostate cancer cases and age-matched controls from seven African centres (no total stated), 2026"; "PMID:41812093"; rdfs:comment "Using the Men of African Descent and Carcinoma of the Prostate (MADCaP) network, we evaluated the association of self-reported FHx of CaP in fathers and brothers in a case-control study of 2,505 prostate cancer cases and 2,222 age-matched controls ascertained from seven centers across Africa." . _:24e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2222; "prostate cancer cases and age-matched controls from seven African centres (no total stated), 2026"; "PMID:41812093"; rdfs:comment "Using the Men of African Descent and Carcinoma of the Prostate (MADCaP) network, we evaluated the association of self-reported FHx of CaP in fathers and brothers in a case-control study of 2,505 prostate cancer cases and 2,222 age-matched controls ascertained from seven centers across Africa." . _:24e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MADCaP"; . _:24e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MADCap"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10068; , ; ; "GCST001263"; "A cohort of African-American families in Maywood, Illinois, United States, recruited from 1995 by Loyola University Chicago Stritch School of Medicine from a representative random sample of residents aged 18 to 74 for its family studies of blood pressure and the genetics of hypertension in populations of West African origin, in which Maywood was the United States site alongside Nigeria and Jamaica."; 1147; "Loyola Maywood Study", "Maywood", "Maywood cohort", "Maywood cohort study"; ; rdfs:label "Maywood Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10068 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10068; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2390537/fullTextXML"; rdfs:comment "Participants from the US were recruited into the Genetic Study of Hypertension in Blacks between 1995–1999 and the Fat Reduction Intervention Trial in African-Americans (FRITAA) between 1995–1998." . _:24e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5419579/supplementaryFiles"; rdfs:comment "The Maywood cohort consisted of African Americans from Maywood, IL, who were enrolled in studies of blood pressure at the Loyola University Chicago Stritch School of Medicine, Maywood, IL, USA" . _:24e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001263"; "Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry."; "PMID:21998595", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3188544/fullTextXML"; rdfs:comment "Maywood cohort study was supported by the NIH grant numbers R37-HL045508, R01-HL074166, R01-HL086718, and R01-HG003054." . _:24e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of African-American families in Maywood, Illinois, United States, recruited from 1995 by Loyola University Chicago Stritch School of Medicine from a representative random sample of residents aged 18 to 74 for its family studies of blood pressure and the genetics of hypertension in populations of West African origin, in which Maywood was the United States site alongside Nigeria and Jamaica."; "PMID:18433493", "PMID:20400458", "PMID:28430825"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1147; "African Americans in the hypertension family study (US arm), 2000"; "PMID:10818078"; rdfs:comment "As part of a study of the genetics of hypertension, we examined families that included 1449 Nigerians and 1147 African Americans." . _:24eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Maywood"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10075; , ; "GCST90128530"; "A historical cohort of multigenerational families in Minnesota, United States, ascertained through a consecutive, family-history-unselected series of breast cancer probands diagnosed from 1944 to 1952 at the University of Minnesota, followed up by telephone interview and mailed questionnaire to measure cancer incidence and risk factors in their relatives (sisters, daughters, granddaughters, nieces and marry-ins)."; 9073; "MBCFS"; ; rdfs:label "Minnesota Breast Cancer Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10075 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10075; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10613336+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Minnesota Breast Cancer Family Study is a historical cohort study of relatives of a consecutive series of 426 breast cancer cases (probands) identified between 1944 and 1952." . _:24ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "In total, 426 multigenerational families were ascertained through a breast cancer proband diagnosed from 1944 to 1952 at the University of Minnesota." . _:24ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The families included in Minnesota Breast Cancer Family Study have been described earlier (Sellers et al., 1999, Vachon et al., 2007)." . _:24ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A historical cohort of multigenerational families in Minnesota, United States, ascertained through a consecutive, family-history-unselected series of breast cancer probands diagnosed from 1944 to 1952 at the University of Minnesota, followed up by telephone interview and mailed questionnaire to measure cancer incidence and risk factors in their relatives (sisters, daughters, granddaughters, nieces and marry-ins)."; "PMID:10613336", "PMID:35414113"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:24f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9073; "at-risk women (relatives and marry-ins) of 426 probands, followed through 1996"; "PMID:10613336"; rdfs:comment "A total of 9073 at-risk women were studied: 56% were biological relatives of the case probands, whereas the others were related through marriage." . _:24f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MBCFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10082; , ; ; "GCST90301368"; "A prospective hospital-based registry of adults with ischaemic stroke, of any ethnic or racial group, admitted through the emergency room to the dedicated stroke unit of the New Jersey Neuroscience Institute at JFK Medical Center in Edison, New Jersey, United States, which enrolled first-ever and recurrent strokes of any severity from 2000 to 2009 with standardised investigations and TOAST subtyping; one of the genetic research centres of the Stroke Genetics Network."; 1139; "MCISS"; ; rdfs:label "Middlesex County Ischemic Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10082 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10082; "ischaemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Middlesex County Ischemic Stroke Study (MCISS) The MCISS was initiated as a prospective hospital based stroke registry at the New Jersey Neuroscience Institute (Edison, NJ, U.S.A.)." . _:24f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The MCISS was initiated as a prospective hospital based stroke registry at the New Jersey Neuroscience Institute (Edison, NJ, U.S.A.)." . _:24f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "MCISS: The Middlesex County Ischemic Stroke Study (MCISS) was supported by intramural funding from the New Jersey Neuroscience Institute/JFK Medical Center, Edison, NJ, and The Neurogenetics Foundation, Cranbury, NJ." . _:24f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective hospital-based registry of adults with ischaemic stroke, of any ethnic or racial group, admitted through the emergency room to the dedicated stroke unit of the New Jersey Neuroscience Institute at JFK Medical Center in Edison, New Jersey, United States, which enrolled first-ever and recurrent strokes of any severity from 2000 to 2009 with standardised investigations and TOAST subtyping; one of the genetic research centres of the Stroke Genetics Network."; "PMID:24021684", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1139; "ischaemic stroke patients enrolled in the registry 2000-2009"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "From 2000 to 2009, 1,139 subjects with ischemic strokes were enrolled in this registry." . _:24f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCISS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10089, _:genid-371333f489424440b12a13b9d98ced822608-genid10091, _:genid-371333f489424440b12a13b9d98ced822608-genid10093; , , ; "GCST90448709"; "A prospective observational cohort of older multi-ethnic Asian patients aged 50 or over with no cognitive impairment, mild cognitive impairment or dementia due to Alzheimer's disease and/or cerebrovascular disease, recruited from 2010 at the memory clinics of the National University Hospital and St Luke's Hospital in Singapore and assessed by the Memory Aging and Cognition Centre, National University of Singapore, with annual clinical and neuropsychological follow-up for up to five years and brain MRI, retinal and blood biomarker data, to study vascular cognitive impairment and Alzheimer's disease."; "The acronym MCS also denotes UK Millennium Cohort Study (COHO:0000801); this term is HARMONISATION study."@en; 700; "HARMONISATION", "HARMONIZATION", "Harmonization Study", "Harmonization study", "MCS", "Memory Clinic in Singapore", "Memory Clinic in Singapore Study", "Memory Clinic in Singapore study"; ; rdfs:label "HARMONISATION study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10089 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10091 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10093 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:24f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10089; "vascular cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12588707/fullTextXML"; rdfs:comment "The Harmonization study is an ongoing prospective study which recruited patients from memory clinics of the National University Hospital and St. Luke’s Hospital in Singapore, aiming to examine cognitive deterioration and associated biomarkers in older Asian individuals with cognitive impairment and dementia due to AD and/or cerebrovascular disease (CeVD)." . _:24f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10091; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12588707/fullTextXML"; rdfs:comment "The Harmonization study is an ongoing prospective study which recruited patients from memory clinics of the National University Hospital and St. Luke’s Hospital in Singapore, aiming to examine cognitive deterioration and associated biomarkers in older Asian individuals with cognitive impairment and dementia due to AD and/or cerebrovascular disease (CeVD)." . _:24fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10093; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12588707/fullTextXML"; rdfs:comment "The Harmonization study is an ongoing prospective study which recruited patients from memory clinics of the National University Hospital and St. Luke’s Hospital in Singapore, aiming to examine cognitive deterioration and associated biomarkers in older Asian individuals with cognitive impairment and dementia due to AD and/or cerebrovascular disease (CeVD)." . _:24fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12588707/fullTextXML"; rdfs:comment "The Harmonization study is an ongoing prospective study which recruited patients from memory clinics of the National University Hospital and St. Luke’s Hospital in Singapore, aiming to examine cognitive deterioration and associated biomarkers in older Asian individuals with cognitive impairment and dementia due to AD and/or cerebrovascular disease (CeVD)." . _:24fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448709"; "Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome-Wide Association Study."; "PMID:38038215", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10727334/fullTextXML"; rdfs:comment "The MCS (Memory Clinic in Singapore) study included patients attending the National University Hospital and St Luke's Hospital memory clinics between 2009 and 2015." . _:24fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of older multi-ethnic Asian patients aged 50 or over with no cognitive impairment, mild cognitive impairment or dementia due to Alzheimer's disease and/or cerebrovascular disease, recruited from 2010 at the memory clinics of the National University Hospital and St Luke's Hospital in Singapore and assessed by the Memory Aging and Cognition Centre, National University of Singapore, with annual clinical and neuropsychological follow-up for up to five years and brain MRI, retinal and blood biomarker data, to study vascular cognitive impairment and Alzheimer's disease."; "PMID:38038215", "PMID:40796328", "PMID:41160443", "PMID:41988974"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:24fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 700; "memory-clinic patients recruited 2010-2020"; "PMID:41160443"; rdfs:comment "HARMONIZATION recruited and deeply phenotyped 700 older multi-ethnic Asians with no cognitive impairment, mild cognitive impairment, and dementia for up to 5 years of follow-up." . _:24ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HARMONISATION"; . _:25002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HARMONIZATION"; . _:25012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10102; , ; ; "GCST90301368"; "A hospital-based study at the Massachusetts General Hospital in Boston, United States, that from 2003 enrolled adults with acute ischaemic stroke (consecutive patients admitted to its stroke unit through the emergency department, or seen in its neurology clinics or on other inpatient services), with stroke-free controls from the hospital's outpatient clinics matched on age, sex and ancestry, to study genetic influences on the risk and outcome of ischaemic stroke; one of the genetic research centres of the Stroke Genetics Network."; 686; 686; "GASROS", "Genes Affecting Stroke Risk and Outcomes Study", "Genes Affecting Stroke Risks and Outcomes Study", "Genes Associated with Stroke Risk and Outcomes Study", "MGH Genes Affecting Stroke Risk and Outcome Study", "MGH-GASROS", "Massachusetts General Hospital – Genes Affecting Stroke Risk and Outcome Study"; ; rdfs:label "Genes Affecting Stroke Risk and Outcome Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10102 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10102; "ischaemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "MGH Genes Affecting Stroke Risk and Outcome Study (MGH-GASROS) Cases were all consecutive patients aged 18 years presenting with ischemic stroke and admitted to the Massachusetts General Hospital (MGH) Stroke Unit through the Emergency Department, or evaluated in the MGH Neurology outpatient clinics, as well as on the inpatient Medical and Vascular Surgical services from January 2003 to July 2008." . _:25032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5570675/fullTextXML"; rdfs:comment "Of those sites, 7 are European centers (BASICMAR—Spain, BRAINS—United Kingdom, GRAZ—Austria, KRAKOW—Poland, LEUVEN—Belgium, LUND STROKE REGISTER—Sweden, and SAHLSIS—Sweden) and 5 are based in the United States (GASROS, GCNKSS, GEOS, ISGS, and MIAMISR)." . _:25042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "MGH-GASROS: The Massachusetts General Hospital Stroke Genetics Group was supported by the NIH Genes Affecting Stroke Risks and Outcomes Study (GASROS) grant K23 NS042720, the American Heart Association/Bugher Foundation Centers for Stroke Prevention Research 0775010N, and NINDS K23NS042695, K23 NS064052, the Deane Institute for Integrative Research in Atrial Fibrillation and Stroke, and by the Keane Stroke Genetics Fund." . _:25052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based study at the Massachusetts General Hospital in Boston, United States, that from 2003 enrolled adults with acute ischaemic stroke (consecutive patients admitted to its stroke unit through the emergency department, or seen in its neurology clinics or on other inpatient services), with stroke-free controls from the hospital's outpatient clinics matched on age, sex and ancestry, to study genetic influences on the risk and outcome of ischaemic stroke; one of the genetic research centres of the Stroke Genetics Network."; "PMID:24021684", "PMID:31551913", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 686; "ischaemic stroke cases phenotyped for SiGN as of April 2013 (cases only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "GASROS Boston, USA Hospital-based 2003–2009 686 18–100 36 90 4" . _:25072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 686; "ischaemic stroke cases phenotyped for SiGN as of April 2013 (cases only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "GASROS Boston, USA Hospital-based 2003–2009 686 18–100 36 90 4" . _:25082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GASROS"; . _:25092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH-GASROS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10111; , ; "GCST90103971"; "A cohort of patients with histopathologically confirmed cutaneous melanoma managed at Melanoma Institute Australia in Sydney, Australia, identified with written informed consent from the institute's Biospecimen Bank and Research Database, whose germline DNA was genotyped genome-wide in phases from 2014 and who are followed prospectively for outcomes including death from melanoma, ascertained from clinical records and linkage to Australian cancer registries."; 5762; "MIA", "Melanoma Institute Australia"; ; rdfs:label "Melanoma Institute Australia cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10111 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:250a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10111; "cutaneous melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9446843/fullTextXML"; rdfs:comment "With written, informed consent, patients with histo-pathological confirmed CM cases managed at MIA, Sydney, Australia were identified from this Biospecimen Bank and Database." . _:250b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9446843/fullTextXML"; rdfs:comment "With written, informed consent, patients with histo-pathological confirmed CM cases managed at MIA, Sydney, Australia were identified from this Biospecimen Bank and Database." . _:250c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103971"; "Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma."; "PMID:34813871", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34813871+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Of these loci, 55 were replicated (P < 0.05/74, Bonferroni-corrected P-value in two independent cutaneous melanoma replication cohorts from Melanoma Institute Australia and 23andMe, Inc." . _:250d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with histopathologically confirmed cutaneous melanoma managed at Melanoma Institute Australia in Sydney, Australia, identified with written informed consent from the institute's Biospecimen Bank and Research Database, whose germline DNA was genotyped genome-wide in phases from 2014 and who are followed prospectively for outcomes including death from melanoma, ascertained from clinical records and linkage to Australian cancer registries."; "PMID:32716505", "PMID:36064556"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:250e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5762; "genotyped melanoma patients analysed for melanoma-specific survival (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9446843/fullTextXML"; rdfs:comment "First, we conducted two GWAS of MSS in the MIA cohort (5762 patients with melanoma and 800 melanoma-specific deaths) and in UKB cohort (5220 melanoma patients and 241 melanoma-specific deaths)." . _:250f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10118; , ; ; "GCST90559231"; "A population-based study of people aged 75 years or older in Dijon, France, recruited from 2009 to 2013 among participants of the Three-City (3C) Study, who had eye examinations, including photographs and optical coherence tomography of the macula and optic disc, at Dijon University Hospital, designed to find associations between age-related eye diseases and neurologic and heart diseases in the elderly."; 1153; "MONTRACHET", "Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases", "Montrachet", "Montrachet Study Cohort"; ; rdfs:label "Montrachet Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10118 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10118; "age-related eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5057364/fullTextXML"; rdfs:comment "The Montrachet (Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases) Study is a population‐based study designed to find associations between age‐related eye diseases and neurologic and heart diseases in the elderly as a primary objective." . _:25112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5057364/fullTextXML"; rdfs:comment "Participants were recruited in Dijon (France), from the ongoing population‐based 3C Study." . _:25122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5057364/fullTextXML"; rdfs:comment "Participants of the Montrachet Study were recruited from an ongoing population‐based study, the Three‐City (3C) Study, which examined the vascular risk factors for dementia (2003)." . _:25132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559231"; "HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement."; "PMID:41361163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/supplementaryFiles"; rdfs:comment "Secondly, the EUGENDA cohort enrolled individuals from 55 years of age, while some other cohorts enrolled older individuals only (e.g. Montrachet ≥75 years, Alienor ≥77 years)." . _:25142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of people aged 75 years or older in Dijon, France, recruited from 2009 to 2013 among participants of the Three-City (3C) Study, who had eye examinations, including photographs and optical coherence tomography of the macula and optic disc, at Dijon University Hospital, designed to find associations between age-related eye diseases and neurologic and heart diseases in the elderly."; "PMID:26466845"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1153; "3C Study participants aged 75+ with an initial eye examination (2011)"; "PMID:26466845"; rdfs:comment "In 2009-2011, 1153 participants from the 3 Cities Study, aged 75 years or more, had an initial eye examination and were scheduled for eye examinations." . _:25162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONTRACHET"; . _:25172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Montrachet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10127; , ; ; "GCST90301368"; "A hospital-based collection of consecutive patients of European ancestry with ischaemic stroke, recruited from 2002 to 2009 at the dedicated stroke unit of the Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich, Germany, with stroke subtypes assigned by TOAST criteria; the cases were genotyped genome-wide in the Wellcome Trust Case Control Consortium 2 ischaemic stroke study and contribute to METASTROKE, the Stroke Genetics Network (SiGN) and MEGASTROKE."; 1383; 1383; "MUNICH", "MUNICH study", "WTCCC2-Munich"; ; rdfs:label "MUNICH stroke study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10127 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10127; "ischaemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases were consecutive European Caucasians recruited from a single dedicated Stroke Unit at the Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich." . _:25192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4056331/unicode"; rdfs:comment "MUNICH* Munich, Germany Hospital-based 2002–2009" . _:251a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "MUNICH: The MUNICH study was supported by the Vascular Dementia Research Foundation, the Dr. Werner Jackstaedt-Stiftung, the FP7 EU project CVgenes@target (261123), the German Federal Ministry of Education and Research (BMBF) in the context of the e:Med program (e:AtheroSysMed), and by grants from the Deutsche Forschungsgemeinschaft (SFB1123 B3/C1, Munich Cluster for Systems Neurology)." . _:251b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based collection of consecutive patients of European ancestry with ischaemic stroke, recruited from 2002 to 2009 at the dedicated stroke unit of the Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich, Germany, with stroke subtypes assigned by TOAST criteria; the cases were genotyped genome-wide in the Wellcome Trust Case Control Consortium 2 ischaemic stroke study and contribute to METASTROKE, the Stroke Genetics Network (SiGN) and MEGASTROKE."; "PMID:22306652", "PMID:23041239", "PMID:24021684", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:251c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1383; "ischaemic stroke cases collected at the Munich stroke unit (cases only)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The Munich samples included 1383 ischemic stroke cases." . _:251d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1383; "ischaemic stroke cases collected at the Munich stroke unit (cases only)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The Munich samples included 1383 ischemic stroke cases." . _:251e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUNICH"; . a owl:NamedIndividual, ; , ; "GCST90642419"; "A population-based register of adult twins and other multiples from the region of Murcia, southeast Spain, created in 2006 through an agreement between the University of Murcia and the Murcia Health Council, which identifies twins in the computerised databases of the regional health system and collects interview, questionnaire and anthropometric data in successive waves, with a biobank, for research on genetic and environmental influences on health and health-related behaviours; it began with female twins born 1940-1966 and later added male and opposite-sex twins."; "The acronym MTR also denotes Minnesota Twin Family Registry (COHO:0002098); this term is Murcia Twin Registry."@en; 3971; "MTR", "MurciaTR"; ; rdfs:label "Murcia Twin Registry"@en . _:251f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12367547/supplementaryFiles"; rdfs:comment "MTR is a population-based register of adult twins in the region of Murcia, located in southeast Spain." . _:25202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90642419"; "Genetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes."; "PMID:40494901", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12367547/fullTextXML"; rdfs:comment "The Murcia Twin Registry is funded by the Spanish Ministerio de Ciencia, Innovación y Universidades (RTI2018-095185-B-I00), co-funded by the European Regional Development Fund." . _:25212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based register of adult twins and other multiples from the region of Murcia, southeast Spain, created in 2006 through an agreement between the University of Murcia and the Murcia Health Council, which identifies twins in the computerised databases of the regional health system and collects interview, questionnaire and anthropometric data in successive waves, with a biobank, for research on genetic and environmental influences on health and health-related behaviours; it began with female twins born 1940-1966 and later added male and opposite-sex twins."; "PMID:23046559", "PMID:41913940"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3971; "individual twins with data in the registry (2026)"; "PMID:41913940"; rdfs:comment "The registry currently includes data from 3971 individual twins born between 1940 and 1999, as well as an associated biobank containing samples from 1586 participants." . _:25232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTR"; . _:25242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MurciaTR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10141; , , , , , , , ; "GCST90708782"; "A collaboration of the University of Exeter, King's College London, Innlandet Hospital Trust, the University of Oslo and Stavanger University Hospital that undertakes secondary analysis of data on patients with Alzheimer's disease from cohort studies and patient registries, to study the genetics of neuropsychiatric symptoms such as psychosis in dementia. Its sources are the Norwegian registry of persons assessed for cognitive symptoms (NorCog) with the affiliated Progression of Alzheimer's Disease and Resource Use study, the REDIC-NH and Health and Memory Study nursing-home cohorts in Norway, AddNeuroMed, and hospital outpatient clinics in Italy and Greece."; 3111; "NEXGENS"; ; rdfs:label "Norwegian, Exeter and King's College Consortium for Genetics of Neuropsychiatric Symptoms in Dementia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10141 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10141; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114588/fullTextXML"; rdfs:comment "All were diagnosed with possible, probable, 20 and when available, autopsy‐confirmed definite 21 AD (for participant characteristics see Table 1)." . _:25262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114588/supplementaryFiles"; rdfs:comment "and from the following outpatient clinics in Italy and Greece (Italian and Greek Hospital Outpatients): Centre for Neurodegenerative Disorders, University of Brescia; IRCCS Casa Sollievo della Sofferenza, Neuropsychiatry Clinic of the Eginition Hospital, Athens." . _:25272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114588/supplementaryFiles"; rdfs:comment "NorCog is a national quality- and research registry collecting extensive clinical data and biobank material at outpatient clinics across Norway." . _:25282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114588/supplementaryFiles"; rdfs:comment "The AddNeuroMed study involves six cross-European collection study sites; London (United Kingdom), Toulouse (France), Perugia (Italy), Kuopio (Finland), Lodz (Poland), and Thessaloniki (Greece)" . _:25292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90708782"; "Genetic associations with psychosis and affective disturbance in Alzheimer's disease."; "PMID:38784964", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114588/fullTextXML"; rdfs:comment "testing, and in some cases neuropathologic assessment, conducted during participation in one of the following six source programs (see Supplemental Material for details for each source program), as previously described 15 : the Fundació ACE Barcelona Alzheimer Treatment and Research Center (ACE/GR@ACE), a Consortium of National Institute on Aging Alzheimer Disease Centers (ADC), Eli Lilly and Company (LILLY), the Norwegian, Exeter and King's College Consortium for Genetics of Neuropsychiatric Symptoms in Dementia (NEXGENS), the National Institute on Aging's Late Onset Alzheimer's Disease Family Study (NIA‐LOAD), and the University of Pittsburgh Alzheimer Disease Research Center (PITT ADRC)." . _:252a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaboration of the University of Exeter, King's College London, Innlandet Hospital Trust, the University of Oslo and Stavanger University Hospital that undertakes secondary analysis of data on patients with Alzheimer's disease from cohort studies and patient registries, to study the genetics of neuropsychiatric symptoms such as psychosis in dementia. Its sources are the Norwegian registry of persons assessed for cognitive symptoms (NorCog) with the affiliated Progression of Alzheimer's Disease and Resource Use study, the REDIC-NH and Health and Memory Study nursing-home cohorts in Norway, AddNeuroMed, and hospital outpatient clinics in Italy and Greece."; "PMID:38784964"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:252b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3111; "AD cases from 11 cohort studies in the consortium's 2019 psychosis PRS analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6805870/fullTextXML"; rdfs:comment "Schizophrenia PRS was calculated using Psychiatric Genomics Consortium data at ten GWAS p value thresholds ( P T ) in 3111 AD cases from 11 cohort studies characterized for psychosis using validated, standardized tools." . _:252c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEXGENS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10150; , ; "GCST90104085"; "A case-control sample of people with Parkinson's disease, diagnosed by modified UK Brain Bank criteria, and neurologically healthy controls (community volunteers and patients' spouses), recruited by the NeuroGenetics Research Consortium at affiliated neurology and movement disorder clinics in Oregon, Washington, Georgia and New York, United States, with uniform, standardised methods for diagnosis, subject selection, data collection and DNA preparation, for genetic and gene-environment studies of Parkinson's disease, and genotyped genome-wide."; 2000; 1986; 3986; "NGRC"; ; rdfs:label "NeuroGenetics Research Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10150 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:252d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10150; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20711177+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study of 2,000 individuals with Parkinson's disease (cases) and 1,986 unaffected controls from the NeuroGenetics Research Consortium (NGRC)." . _:252e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7293233/fullTextXML"; rdfs:comment "Subjects were enrolled by NGRC investigators, using standardized methods, at four NGRC-affiliated movement disorder clinics in the United States." . _:252f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104085"; "Common X-Chromosome Variants Are Associated with Parkinson Disease Risk."; "PMID:33583074", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8601399/unicode"; rdfs:comment "The PD cohorts include the International PD Genomics Consortium (IPDGC) NeuroX dataset, the National Institute of Neurological Disorders and Stroke (NINDS) PD dataset, the Autopsy-Confirmed PD GWAS Consortium (APDGC) dataset genotyped by the Center for Inherited Disease Research, the NeuroGenetics Research Consortium (NGRC) dataset, the UK PD Consortium, and the Wellcome Trust Case Control Consortium 2, referred to here as EBI MERGE." . _:25302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of people with Parkinson's disease, diagnosed by modified UK Brain Bank criteria, and neurologically healthy controls (community volunteers and patients' spouses), recruited by the NeuroGenetics Research Consortium at affiliated neurology and movement disorder clinics in Oregon, Washington, Georgia and New York, United States, with uniform, standardised methods for diagnosis, subject selection, data collection and DNA preparation, for genetic and gene-environment studies of Parkinson's disease, and genotyped genome-wide."; "PMID:20711177", "PMID:32566740"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "cases and controls analysed in the 2010 NGRC genome-wide association study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.642/MediaObjects/41588_2010_BFng642_MOESM8_ESM.pdf"; rdfs:comment "Parkinson 2014 99.92±0.08 1 13 2000 67.3 58.34±11.93 67.26±10.67 Controls 1999 99.92±0.08 3 10 1986 38.7 -- 70.32±14.09 Total 4013 99.92±0.08 4 23 3986" . _:25322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1986; "cases and controls analysed in the 2010 NGRC genome-wide association study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.642/MediaObjects/41588_2010_BFng642_MOESM8_ESM.pdf"; rdfs:comment "Parkinson 2014 99.92±0.08 1 13 2000 67.3 58.34±11.93 67.26±10.67 Controls 1999 99.92±0.08 3 10 1986 38.7 -- 70.32±14.09 Total 4013 99.92±0.08 4 23 3986" . _:25332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3986; "cases and controls analysed in the 2010 NGRC genome-wide association study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.642/MediaObjects/41588_2010_BFng642_MOESM8_ESM.pdf"; rdfs:comment "Parkinson 2014 99.92±0.08 1 13 2000 67.3 58.34±11.93 67.26±10.67 Controls 1999 99.92±0.08 3 10 1986 38.7 -- 70.32±14.09 Total 4013 99.92±0.08 4 23 3986" . _:25342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NGRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10159; , , ; "GCST001263"; "A Loyola University Chicago project on the genetics of hypertension in people of West African origin, whose genome-wide association sample consists of unrelated Yoruba-speaking adults with normal or raised blood pressure from Igbo-Ora, a rural town, and Idikan, a low-income neighbourhood of Ibadan, in southwest Nigeria, recruited as part of a long-term study of the environmental and genetic factors underlying hypertension; the Idikan participants were controls of the Africa America Diabetes Mellitus study."; 1614; "Nigeria"; ; rdfs:label "Genetics of Hypertension in Blacks"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10159 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10159; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3353888/fullTextXML"; rdfs:comment "Study participants were recruited from Yoruba-speaking communities in southwest Nigeria as part of a long-term study on the environmental and genetic factors underlying hypertension [10]." . _:25362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3353888/fullTextXML"; rdfs:comment "Study participants were recruited from Yoruba-speaking communities in southwest Nigeria as part of a long-term study on the environmental and genetic factors underlying hypertension [10]." . _:25372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001263"; "Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry."; "PMID:21998595", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3188544/fullTextXML"; rdfs:comment "The meta-analysis included results from nine studies: four population-based African-American studies (ARIC (N = 2,740), CARDIA (N = 699), JHS (N = 2,119), and MESA (N = 1,646)), one family-based African-American study (CFS (N = 386)), African-American GWA study consortia of breast (AABC (N = 5,380)) and prostate cancer (AAPC (N = 5,526)) and two case-control studies of obesity (Maywood (N = 743)) and hypertension (Nigeria (N = 1,188)) (Materials and Methods, Text S1 and Table S1)." . _:25382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Loyola University Chicago project on the genetics of hypertension in people of West African origin, whose genome-wide association sample consists of unrelated Yoruba-speaking adults with normal or raised blood pressure from Igbo-Ora, a rural town, and Idikan, a low-income neighbourhood of Ibadan, in southwest Nigeria, recruited as part of a long-term study of the environmental and genetic factors underlying hypertension; the Idikan participants were controls of the Africa America Diabetes Mellitus study."; "PMID:20400458", "PMID:21573225", "PMID:21998595", "PMID:22615923"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1614; "unrelated Nigerian adults in the quality-controlled genome-wide dataset (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3353888/fullTextXML"; rdfs:comment "The final cleaned dataset thus consisted of 1614 unrelated adult hypertensive (n = 790) and normotensive (n = 824) subjects, 940 females and 674 males with 759,215 SNPs across both the 22 autosomal and X chromosomes." . _:253a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nigeria"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10166; , , ; "GCST90482691"; "A case-control sample of Chinese patients with histologically confirmed incident non-small cell lung cancer, untreated by chemotherapy or radiotherapy before diagnosis, and cancer-free controls from community screening for non-communicable diseases, frequency-matched on age, sex and region, genotyped on the Illumina Global Screening Array by Nanjing Medical University, China; it combines three regional case-control studies, from Nanjing and Shanghai, from Beijing and Tianjin, and from Guangdong."; 10248; 9298; 19546; "NJMU GSA", "NJMU GSA Project", "NJMU GSA project", "NJMU Global Screening Array project", "Nanjing Medical University Global Screening Array Project"; ; rdfs:label "Nanjing Medical University Global Screening Array project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10166 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:253b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10166; "non-small-cell lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31326317+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To systematically identify genetic variants for NSCLC risk, we newly genotyped 19 546 samples from Chinese NSCLC cases and controls from the Nanjing Medical University Global Screening Array Project" . _:253c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13348699/fullTextXML"; rdfs:comment "Specifically, these included the NJMU Global Screening Array project (10,248 cases and 9,298 controls), with participants recruited from five major cities in China (Nanjing, Shanghai, Beijing, Tianjin, and Guangzhou); the NJMU GWAS dataset (2,126 cases and 3,077 controls) [17]; and the NJMU OncoArray dataset (953 cases and 953 controls)." . _:253d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90482691"; "Genome-wide meta-analysis across East Asian and European populations provides insights into the molecular basis of lung cancer."; "PMID:42152146", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13348699/fullTextXML"; rdfs:comment "Specifically, these included the NJMU Global Screening Array project (10,248 cases and 9,298 controls), with participants recruited from five major cities in China (Nanjing, Shanghai, Beijing, Tianjin, and Guangzhou); the NJMU GWAS dataset (2,126 cases and 3,077 controls) [17]; and the NJMU OncoArray dataset (953 cases and 953 controls)." . _:253e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of Chinese patients with histologically confirmed incident non-small cell lung cancer, untreated by chemotherapy or radiotherapy before diagnosis, and cancer-free controls from community screening for non-communicable diseases, frequency-matched on age, sex and region, genotyped on the Illumina Global Screening Array by Nanjing Medical University, China; it combines three regional case-control studies, from Nanjing and Shanghai, from Beijing and Tianjin, and from Guangdong."; "PMID:31326317", "PMID:42152146"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:253f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10248; "NSCLC cases and controls genotyped on the Global Screening Array (2019)"; "https://europepmc.org/api/getPdf?pmcid=PMC7015703"; rdfs:comment "For the present study, we newly performed genome-wide scan for 19,546 samples (NJMU GSA project: 10,248 cases and 9,298 controls) using Illumina Global Screening Array (GSA), which included three studies (Nanjing GSA study: 4,149 cases and 3,198 controls from Nanjing and Shanghai; Beijing GSA study: 2,155 cases and 2,035 controls from Beijing and Tianjin; and Guangzhou GSA study: 3,944 cases and 4,065 controls from Guangdong)." . _:25402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9298; "NSCLC cases and controls genotyped on the Global Screening Array (2019)"; "https://europepmc.org/api/getPdf?pmcid=PMC7015703"; rdfs:comment "For the present study, we newly performed genome-wide scan for 19,546 samples (NJMU GSA project: 10,248 cases and 9,298 controls) using Illumina Global Screening Array (GSA), which included three studies (Nanjing GSA study: 4,149 cases and 3,198 controls from Nanjing and Shanghai; Beijing GSA study: 2,155 cases and 2,035 controls from Beijing and Tianjin; and Guangzhou GSA study: 3,944 cases and 4,065 controls from Guangdong)." . _:25412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19546; "NSCLC cases and controls genotyped on the Global Screening Array (2019)"; "https://europepmc.org/api/getPdf?pmcid=PMC7015703"; rdfs:comment "For the present study, we newly performed genome-wide scan for 19,546 samples (NJMU GSA project: 10,248 cases and 9,298 controls) using Illumina Global Screening Array (GSA), which included three studies (Nanjing GSA study: 4,149 cases and 3,198 controls from Nanjing and Shanghai; Beijing GSA study: 2,155 cases and 2,035 controls from Beijing and Tianjin; and Guangzhou GSA study: 3,944 cases and 4,065 controls from Guangdong)." . _:25422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJMU GSA"; . _:25432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJMU GSA Project"; . _:25442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJMU GSA project"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10177; , ; "GCST90104085"; "A consortium of academic Parkinson's disease research centres in the United States, several of them Morris K. Udall Centers of Excellence for Parkinson's Disease Research, that pools patients with Parkinson's disease enrolled in the centres' studies, each given a detailed neurological evaluation and a shared core battery of cognitive tests, with a coordinating centre at the University of Washington and VA Puget Sound Health Care System in Seattle, to identify genetic risk factors for cognitive impairment in Parkinson's disease."; 1424; "PD Cognitive Genetics Consortium", "PDCGC"; ; rdfs:label "Parkinson's Disease Cognitive Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10177 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10177; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26296077+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We screened the GBA coding region for mutations and the E326K polymorphism in 1,369 PD patients enrolled at eight sites from the PD Cognitive Genetics Consortium." . _:25462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5056861/unicode"; rdfs:comment "We performed detailed longitudinal assessments of 740 patients with PD who were volunteer research participants enrolled at 7 sites for the PD Cognitive Genetics Consortium, including University of Pennsylvania, Philadelphia; Feinstein Institute for Medical Research, Manhasset, New York; The Johns Hopkins University, Baltimore, Maryland; Mayo Clinic, Jacksonville, Florida; Pacific Northwest Udall Center (PANUC), Portland, Oregon, and Seattle, Washington (all 6 are Morris K. Udall Centers of Excellence for Parkinson’s Disease Research); and Rush University Medical Center, Chicago, Illinois." . _:25472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104085"; "Common X-Chromosome Variants Are Associated with Parkinson Disease Risk."; "PMID:33583074", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8601399/unicode"; rdfs:comment "In the replication, we meta-analyzed 2 PD datasets (Table 2): the first composed of the Parkinson’s Disease Cognitive Genetics Consortium (PDCGC) and healthy individuals from the Adult Change in Thought (ACT) longitudinal cohort, referred to here as PDCGC & ACT; and the second from McGill University (McGill), including samples from the Quebec Parkinson Network." . _:25482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of academic Parkinson's disease research centres in the United States, several of them Morris K. Udall Centers of Excellence for Parkinson's Disease Research, that pools patients with Parkinson's disease enrolled in the centres' studies, each given a detailed neurological evaluation and a shared core battery of cognitive tests, with a coordinating centre at the University of Washington and VA Puget Sound Health Care System in Seattle, to identify genetic risk factors for cognitive impairment in Parkinson's disease."; "PMID:26296077", "PMID:27571329", "PMID:38870440", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001664.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1424; "PD patients enrolled and clinically assessed at the eight consortium sites (2015)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4724255/"; rdfs:comment "We enrolled and clinically assessed 1,424 participants with PD in studies at eight sites which together comprise the PD Cognitive Genetics Consortium (PDCGC; Appendix e-1)." . _:254a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PDCGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10184; , ; ; "PMID:21673961"; "A case-control study of ovarian cancer in Poland, with participants from Szczecin, Poznań, Opole and Rzeszów, that is one of the studies of the Ovarian Cancer Association Consortium."; 545; 525; "POC", "POCS", "Polish Ovarian Cancer Study"; rdfs:label "Poland Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10184 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:254b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10184; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3108970/fullTextXML"; rdfs:comment "the Polish Ovarian Cancer study, Poland (POC)] and one hospital-based study [Bavaria Case-Control Study (BAV)] included 4946 cases with primary histologically-confirmed invasive ovarian carcinoma and 6582 controls." . _:254c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21673961"; "Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium."; "PMID:21673961", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3108970/fullTextXML"; rdfs:comment "This pooled analysis of nine population-based studies from Australia [the Australian Ovarian Cancer study and the Australian Cancer Study: Ovarian Cancer (AUS)], the United States [Genetic Epidemiology of Ovarian Cancer Study, Stanford University, California (STA); Hawaiian Ovarian Cancer Study, Honolulu, Hawaii (HAW); the North Carolina Ovarian Cancer Study, North Carolina (NCO); the University of Southern California Case-Control Studies of Ovarian Cancer, Los Angeles County, California (USC)], and Europe [MALOVA Ovarian Cancer Case-Control Study, Danish Cancer Society, Denmark (MAL); Studies of Epidemiology and Risk Factors in Cancer Heredity, United Kingdom (SEA); the United Kingdom Ovarian Cancer Population Study (UKO); the Polish Ovarian Cancer study, Poland (POC)] and one hospital-based study [Bavaria Case-Control Study (BAV)] included 4946 cases with primary histologically-confirmed invasive ovarian carcinoma and 6582 controls." . _:254d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of ovarian cancer in Poland, with participants from Szczecin, Poznań, Opole and Rzeszów, that is one of the studies of the Ovarian Cancer Association Consortium."; "PMID:21673961", "PMID:23513043"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:254e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 545; "invasive ovarian cancer cases and controls (white non-Hispanic women) in an OCAC pooled analysis (2011)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108970/"; rdfs:comment "POC (Polish Ovarian Cancer Study) Szczecin, Poznan, Opole and Rzeszow, Poland Population-based case-control 545 55.0 (0.5) 525 57.5 (0.5)" . _:254f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 525; "invasive ovarian cancer cases and controls (white non-Hispanic women) in an OCAC pooled analysis (2011)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108970/"; rdfs:comment "POC (Polish Ovarian Cancer Study) Szczecin, Poznan, Opole and Rzeszow, Poland Population-based case-control 545 55.0 (0.5) 525 57.5 (0.5)" . _:25502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POC"; . _:25512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POCS"; . a owl:NamedIndividual, ; , ; ; "GCST90105058"; "A study of the younger part of the Screening Across the Lifespan Twin study (SALT) cohort of the Swedish Twin Registry, twins born 1943–1958, who in 2008–2010 were sent an extensive self-report questionnaire, a request for saliva for DNA and an invitation to a web-based investigation, carried out by the registry with researchers in epidemiology, medicine, political science and economics."; 11482; "SALT-Y", "SALTY", "Screening Across the Lifespan Twin study in Younger adults"; ; rdfs:label "Screening Across the Lifespan Twin survey, Younger cohort"@en . _:25522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/swedish-twin-registry-content-and-management-as-a-research-infrastructure/C22D50E7162D4A9F63706B2B4B84C75B"; rdfs:comment "The data collection began in the fall of 2008 by sending an extensive questionnaire to 24,914 Swedish twins, and it was completed in the summer of 2010." . _:25532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369071/fullTextXML"; rdfs:comment "National health register information (until 2016) was linked to 5 subcohorts of child and adult twins (total twin pairs: n = 38 723) from the Swedish Twin Registry including: 17 593 pairs from the Child and Adolescent Twin Study of Sweden (CATSS), born 1992 to 2012; 2254 pairs from the Young Adult Twins in Sweden Study (YATSS), born 1985 to 1991; 9234 pairs from the Study of Twin Adults: Genes and Environment (STAGE), born 1958 to 1985; 3649 pairs from the Screening Across the Lifespan Twin study in Younger adults (SALTY), born 1943 to 1958; and 5993 pairs from TwinGene, born 1911 to 1958 (Figure 1)." . _:25542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90105058"; "Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss."; "PMID:35580588", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9247887/fullTextXML"; rdfs:comment "Danish Twin Registry (DTR; n = 1,314), the Estonian Genome Center at the University of Tartu (EGCUT; n = 55,523), FinnGen (n = 212,544), Framingham Heart Study (FHS; n = 2,536), Health Aging and Body Composition (HABC; n = 1,288), Italian Network of Genetic Isolates - Friuli Venezia Giulia (INGI-FVG; n = 339), the Rotterdam Study (RS, cohorts 1–3; n = 6,157), the Salus in Apulia study (SA; n = 1,780; formerly known as Great Age study), Screening Across the Lifespan Twin (SALT; n = 9,565, and SALTY - young; n = 5,133), Screening Twin Adults: Genes and Environment (STAGE; n = 8,345), TwinsUK (n = 5,125), UK Biobank (UKBB; n = 392,143), and the Women’s Genome Health Study (WGHS; n = 18,340)." . _:25552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of the younger part of the Screening Across the Lifespan Twin study (SALT) cohort of the Swedish Twin Registry, twins born 1943–1958, who in 2008–2010 were sent an extensive self-report questionnaire, a request for saliva for DNA and an invitation to a web-based investigation, carried out by the registry with researchers in epidemiology, medicine, political science and economics."; "PMID:31747977", "PMID:38412344"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11482; "questionnaire respondents who consented to storage and analysis (2010)"; "https://doi.org/10.1017/thg.2019.99"; rdfs:comment "Out of these, 11,482 (98.6%) respondents gave informed consent to have their responses stored and analyzed." . _:25572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SALT-Y"; . _:25582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SALTY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10199; , ; ; "GCST90243965"; "A research programme of the US National Heart, Lung, and Blood Institute, established in 2001 (also called the Severe Asthma Network), in which a network of investigators at academic health centres in the United States recruits adults and children with severe and non-severe asthma for detailed phenotypic characterization, in the SARP I and II cohorts (2001–2012) and the longitudinal SARP III cohort (from 2012), to study the mechanisms that distinguish severe from non-severe asthma; the genomes of some of its participants were sequenced in NHLBI's Trans-Omics for Precision Medicine programme."; 1644; "NHLBI Severe Asthma Research Program", "SARP", "Severe Asthma Network"; ; rdfs:label "Severe Asthma Research Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10199; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17208583+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Severe Asthma Network (Severe Asthma Research Program) was established by the National Heart, Lung, and Blood Institute in 2001 to advance collectively the study of severe asthma to determine factors that differentiated these patients or subjects from those with milder asthma." . _:255a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5832534/unicode"; rdfs:comment "In November 2012 the NIH/NHLBI formed SARP III, a network of U.S. investigators and a data coordinating center (DCC) located at regional academic health centers involved in severe asthma research." . _:255b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90243965"; "Genetic diversity fuels gene discovery for tobacco and alcohol use."; "PMID:36477530", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9771818/supplementaryFiles"; rdfs:comment "SARP (Severe Asthma Research Program) – The authors thank the SARP participants, investigators, clinical research staff and data coordinating center." . _:255c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research programme of the US National Heart, Lung, and Blood Institute, established in 2001 (also called the Severe Asthma Network), in which a network of investigators at academic health centres in the United States recruits adults and children with severe and non-severe asthma for detailed phenotypic characterization, in the SARP I and II cohorts (2001–2012) and the longitudinal SARP III cohort (from 2012), to study the mechanisms that distinguish severe from non-severe asthma; the genomes of some of its participants were sequenced in NHLBI's Trans-Omics for Precision Medicine programme."; "PMID:17208583", "PMID:28866107", "PMID:34536413"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:255d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1644; "patients with asthma characterized in SARP I and II (2001-2011)"; "PMID:22095547"; rdfs:comment "The National Heart, Lung, and Blood Institute Severe Asthma Research Program (SARP) has characterized over the past 10 years 1,644 patients with asthma, including 583 individuals with severe asthma." . _:255e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SARP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10206; ; , ; "GCST90984764"; "A lifespan cohort study of people with sickle cell disease in the United States, established in 2014 by St. Jude Children's Research Hospital, that prospectively enrols patients at St. Jude (the coordinating site), two other sickle cell centres and St. Jude affiliate sites, collects retrospective and longitudinal clinical, neurocognitive, geospatial, psychosocial and health-outcome data and banks biological samples, to study disease progression from childhood into adulthood and the long-term effects of therapies."; 1044; "SCCRIP"; ; rdfs:label "Sickle Cell Clinical Research and Intervention Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:255f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10206; "sickle cell disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29797644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Initiated in 2014, the SCCRIP study prospectively recruits patients diagnosed with SCD and includes retrospective and longitudinal collection of clinical, neurocognitive, geospatial, psychosocial, and health outcomes data." . _:25602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11652775/fullTextXML"; rdfs:comment "Of 501 children aged at least 3 years old, who lived in Tennessee and enrolled in SCCRIP, 435 had sufficient environmental data to be mapped to a census tract (Table 1)." . _:25612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90984764"; "A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease."; "PMID:34283174", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34283174+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or HbSβ0-thalassemia from Baylor College of Medicine and from the St. Jude Children's Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study." . _:25622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A lifespan cohort study of people with sickle cell disease in the United States, established in 2014 by St. Jude Children's Research Hospital, that prospectively enrols patients at St. Jude (the coordinating site), two other sickle cell centres and St. Jude affiliate sites, collects retrospective and longitudinal clinical, neurocognitive, geospatial, psychosocial and health-outcome data and banks biological samples, to study disease progression from childhood into adulthood and the long-term effects of therapies."; "PMID:29797644", "PMID:39373640", "PMID:41870384"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1044; "patients with sickle cell disease enrolled by August 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29797644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "As of August 2017, 1,044 (92.3% of eligible) patients with SCD have enrolled in the study (860 children and 184 adults), with 11,915 person-years of observation." . _:25642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCCRIP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10213, _:genid-371333f489424440b12a13b9d98ced822608-genid10215; , , ; ; "GCST005843", "PGS004921"; "A genetic epidemiological study of type 2 diabetes and cardiovascular disease in Punjabi-speaking Sikhs of North Indian origin, begun as a family-based study of Khatri Sikh families with at least two siblings affected by type 2 diabetes and extended as a case-control study, with participants recruited in northern India from 2003, to investigate genetic and environmental risk factors for type 2 diabetes and cardiovascular disease."; 4602; "AIDHS", "AIDHS/SDS", "Asian Indian Diabetes Heart Study/Sikh Diabetes Study", "Asian Indian Diabetic Heart Study", "Asian Indian diabetic heart study", "Khatri Sikh Diabetes Study", "SDS", "SDS/AIDHS", "SiDS", "Sikh", "Sikh Diabetes Study"; , ; rdfs:label "Asian Indian Diabetic Heart Study/Sikh Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10213 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10215 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10213; "cardiovascular disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Asian Indian Diabetic Heart Study/Sikh Diabetes Study (AIDHS/SDS) is a case-control study designed to investigate the association between genetic and environmental factors and their risk on type 2 diabetes (T2D) and cardiovascular disease in a population of Punjabi ancestry from India." . _:25662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10215; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Asian Indian Diabetic Heart Study/Sikh Diabetes Study (AIDHS/SDS) is a case-control study designed to investigate the association between genetic and environmental factors and their risk on type 2 diabetes (T2D) and cardiovascular disease in a population of Punjabi ancestry from India." . _:25672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10752110/fullTextXML"; rdfs:comment "All study participants of AIDHS/SDS were from the Northern part of India and were recruited from 2003 to 2009." . _:25682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005843"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Asian Indian Diabetic Heart Study/Sikh Diabetes Study (AIDHS/SDS) is a case-control study designed to investigate the association between genetic and environmental factors and their risk on type 2 diabetes (T2D) and cardiovascular disease in a population of Punjabi ancestry from India." . _:25692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004921"; "Sexual Differences in Genetic Predisposition of Coronary Artery Disease."; "PMID:33332181" . _:256a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic epidemiological study of type 2 diabetes and cardiovascular disease in Punjabi-speaking Sikhs of North Indian origin, begun as a family-based study of Khatri Sikh families with at least two siblings affected by type 2 diabetes and extended as a case-control study, with participants recruited in northern India from 2003, to investigate genetic and environmental risk factors for type 2 diabetes and cardiovascular disease."; "PMID:16900881", "PMID:38152657", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:256b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4602; "genotyped participants analysed in a 2023 PRS study (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10752110/fullTextXML"; rdfs:comment "Weighted PRS models were constructed and analyzed on 4602 individuals from the Asian Indian Diabetes Heart Study/Sikh Diabetes Study (AIDHS/SDS) as discovery/training and test/validation datasets." . _:256c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIDHS"; . _:256d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AIDHS/SDS"; . _:256e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDS"; . _:256f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDS/AIDHS"; . _:25702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SiDS"; . _:25712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sikh"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10228; ; "GCST90984764"; "A cohort of individuals with sickle cell disease recruited from Baylor College of Medicine and from the Sickle Cell Clinical Research and Intervention Program (SCCRIP) cohort at St. Jude Children's Research Hospital, whose whole genomes were sequenced to define genotype-phenotype relations in sickle cell disease."; 722; "SGP"; ; rdfs:label "Sickle Cell Genome Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10228 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10228; "sickle cell disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34283174+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate this in sickle cell disease (SCD), we performed whole-genome sequencing (WGS) of 722 individuals with hemoglobin HbSS or HbSβ0-thalassemia from Baylor College of Medicine and from the St. Jude Children's Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study." . _:25732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8102307/unicode"; rdfs:comment "Germline-only data of pediatric sickle cell patients represents 807 patients from the Sickle Cell Genome Project (SGP), an initiative that is part of the Sickle Cell Clinical Research and Intervention Program (SCCRIP)." . _:25742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90984764"; "A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease."; "PMID:34283174", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8341359/"; rdfs:comment "To better define genotype–phenotype relations in SCD, we initiated the Sickle Cell Genome Project (SGP) by performing whole-genome sequencing (WGS) on participants from Baylor College of Medicine (BCM) and from the St. Jude Children’ Research Hospital Sickle Cell Clinical Research and Intervention Program (SCCRIP) longitudinal cohort study (clinicaltrials.gov #NCT02098863)." . _:25752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of individuals with sickle cell disease recruited from Baylor College of Medicine and from the Sickle Cell Clinical Research and Intervention Program (SCCRIP) cohort at St. Jude Children's Research Hospital, whose whole genomes were sequenced to define genotype-phenotype relations in sickle cell disease."; "PMID:34283174"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:25762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 722; "individuals with HbSS or HbSβ0-thalassemia whose genomes were sequenced (2021)"; "https://europepmc.org/api/getPdf?pmcid=PMC8341359"; rdfs:comment "The SGP cohort consists of 722 participants from BCM or the SCCRIP cohort at St. Jude Children’s Research Hospital who were analyzed by WGS." . _:25772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10235; , ; ; "GCST90301368"; "A hospital-based collection of patients with ischaemic stroke, including some with transient ischaemic attack and recent brain infarction, recruited at St George's in London, United Kingdom, from 1995 to 2008, genotyped in the Wellcome Trust Case Control Consortium 2 ischaemic stroke study and one of the genetic research centres of the NINDS Stroke Genetics Network."; 684; "SGSSL", "St George's Stroke Study, London, UK"; ; rdfs:label "St George's stroke cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10235 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10235; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582024/fullTextXML"; rdfs:comment "The Wellcome Trust Case Control Consortium 2 (WTCCC2) ischemic stroke study comprises ischemic stroke cases recruited from 3 centers in the United Kingdom (St George's London, Oxford, and Edinburgh) and 1 center in Munich, Germany." . _:25792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582024/fullTextXML"; rdfs:comment "The Wellcome Trust Case Control Consortium 2 (WTCCC2) ischemic stroke study comprises ischemic stroke cases recruited from 3 centers in the United Kingdom (St George's London, Oxford, and Edinburgh) and 1 center in Munich, Germany." . _:257a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "Collection of some of the St George’s stroke cohort was supported by project grant support from the Stroke Association." . _:257b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based collection of patients with ischaemic stroke, including some with transient ischaemic attack and recent brain infarction, recruited at St George's in London, United Kingdom, from 1995 to 2008, genotyped in the Wellcome Trust Case Control Consortium 2 ischaemic stroke study and one of the genetic research centres of the NINDS Stroke Genetics Network."; "PMID:23381943", "PMID:24021684"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:257c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 684; "ischaemic stroke cases classified with CCS in SiGN (as of April 2013)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4056331/"; rdfs:comment "ST GEORGE’S London, England Hospital-based 1995–2008 684 18–102 47 100 0" . _:257d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGSSL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10242; , ; "GCST90128530"; "A family study in the United Kingdom that from October 2002 recruited women attending the Cambridge and Huntingdon NHS breast screening services who had one or more female blood relatives (sisters, half-sisters, first cousins, aunts or nieces) who had also had screening mammograms, with further families found through newspaper and radio advertisements, to map genes underlying quantitative phenotypes related to breast cancer, in particular mammographic breast density and sex steroid hormone levels."; 1740; "SIBS", "Sisters in Breast Cancer Screening", "Sisters in Breast Screening", "Sisters in Breast Screening study"; ; rdfs:label "Sisters in Breast Screening Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10242 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:257e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10242; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Sisters in Breast Screening Study (SIBS) was designed to study the genetic basis of quantitative phenotypes related to breast cancer, in particular breast density and sex-hormone levels [Varghese et al., 2012; Kataoka et al., 2009]." . _:257f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "Families were identified through the National Health Service breast screening program in the United Kingdom." . _:25802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90128530"; "Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci."; "PMID:35414113", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9006574/supplementaryFiles"; rdfs:comment "The Sisters in Breast Screening Study (SIBS) was designed to study the genetic basis of quantitative phenotypes related to breast cancer, in particular breast density and sex-hormone levels [Varghese et al., 2012; Kataoka et al., 2009]." . _:25812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study in the United Kingdom that from October 2002 recruited women attending the Cambridge and Huntingdon NHS breast screening services who had one or more female blood relatives (sisters, half-sisters, first cousins, aunts or nieces) who had also had screening mammograms, with further families found through newspaper and radio advertisements, to map genes underlying quantitative phenotypes related to breast cancer, in particular mammographic breast density and sex steroid hormone levels."; "PMID:20570912", "PMID:22266113", "PMID:35414113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1740; "cancer-free women genotyped (subset; full enrolment not stated), 2010"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2901592/"; rdfs:comment "1740 cancer-free subjects were genotyped." . _:25832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10249; , ; "GCST90319324"; "A retrospective cohort with prospective follow-up, established in 2007 by St. Jude Children's Research Hospital in Memphis, Tennessee, of survivors of paediatric cancer diagnosed and treated there between 1962 and 2012 who have survived at least five years from diagnosis (until 2015, only adults who had survived ten years), with frequency-matched community controls, who are invited back to the hospital at least every five years for protocol-based medical assessments, patient-reported outcomes and biospecimen collection, to study late health outcomes of childhood cancer and its treatment."; 6005; "SJLIFE", "St Jude Lifetime Cohort", "St Jude Lifetime Cohort Study", "St. Jude Lifetime Cohort", "St. Jude Lifetime Cohort study"; ; rdfs:label "St. Jude Lifetime Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10249 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10249; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21370418+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Eligibility criteria for inclusion in the St. Jude Lifetime Cohort (SJLIFE) study include: (1) diagnosis of childhood malignancy treated at SJCRH; (2) survival ≥ 10 years from diagnosis; and (3) current age ≥ 18 years." . _:25852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8453382/"; rdfs:comment "Childhood cancer survivors were recruited from 8192 survivors diagnosed between 1962 and 2012 with paediatric cancer and treated at St. Jude Children’s Research Hospital in Memphis, TN." . _:25862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319324"; "Trans-Ancestral Genetic Risk Factors for Treatment-Related Type 2 Diabetes Mellitus in Survivors of Childhood Cancer."; "PMID:38652878", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38652878+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Leveraging whole-genome sequencing data from the St Jude Lifetime Cohort (N = 3,676, 304 clinically ascertained cases), we conducted ancestry-specific genome-wide association studies among survivors of African and European genetic ancestry (AFR and EUR, respectively) followed by trans-ancestry meta-analysis." . _:25872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retrospective cohort with prospective follow-up, established in 2007 by St. Jude Children's Research Hospital in Memphis, Tennessee, of survivors of paediatric cancer diagnosed and treated there between 1962 and 2012 who have survived at least five years from diagnosis (until 2015, only adults who had survived ten years), with frequency-matched community controls, who are invited back to the hospital at least every five years for protocol-based medical assessments, patient-reported outcomes and biospecimen collection, to study late health outcomes of childhood cancer and its treatment."; "PMID:21370418", "PMID:33374007"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6005; "childhood cancer survivors enrolled (signed consent) by March 2020"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8453382/"; rdfs:comment "As of 12 March 2020, 73.3% (6005/8192) of all living, eligible survivors have enrolled and 80.1% have enrolled or confirmed their interest in participating." . _:25892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SJLIFE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10256; , ; "GCST90095126"; "A multicentre study in central Sweden of consecutive patients newly diagnosed with colorectal cancer of any stage, recruited between 2004 and 2009 at 14 hospitals by the Swedish Low-Risk Colorectal Cancer Study Group and interviewed on their family history of cancer, with a lifestyle questionnaire for those recruited in 2004–2006 and cancer-free spouses of participants serving as controls; its cases and controls are used in genetic studies of colorectal cancer risk."; 3300; "Colorectal Cancer Low-risk study", "Colorectal cancer low-risk study", "SLRCCSG", "Swedish Colorectal Cancer Low-risk study", "Swedish Low-Risk Colorectal Cancer Study Group"; ; rdfs:label "Swedish Low-risk Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10256 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:258a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10256; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2939779/fullTextXML"; rdfs:comment "The case cohort was composed of 1786 consecutive CRC patients of Swedish origin recruited through the Swedish Low-Risk CRC Study Group from 14 different hospitals from central Sweden during 2004–2006." . _:258b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90095126"; "Colorectal cancer risk susceptibility loci in a Swedish population."; "PMID:34758156" . _:258c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre study in central Sweden of consecutive patients newly diagnosed with colorectal cancer of any stage, recruited between 2004 and 2009 at 14 hospitals by the Swedish Low-Risk Colorectal Cancer Study Group and interviewed on their family history of cancer, with a lifestyle questionnaire for those recruited in 2004–2006 and cancer-free spouses of participants serving as controls; its cases and controls are used in genetic studies of colorectal cancer risk."; "PMID:20648012", "PMID:39543761", "PMID:39665592"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:258d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3300; "more than 3,300 consecutive colorectal cancer cases recruited 2004-2009 (lower bound)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11756881/fullTextXML"; rdfs:comment "The CRC low-risk study is a Swedish multicenter cohort study including more than 3,300 consecutive CRC cases recruited in 2004–2009 (15)." . _:258e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLRCCSG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10262, _:genid-371333f489424440b12a13b9d98ced822608-genid10264; , ; "GCST90267392"; "A two-phase case-control study of colorectal polyps among enrollees of Group Health Cooperative (now Kaiser Permanente Washington), an integrated health-care delivery system in western Washington State, United States, aged 24–79 years who had an index colonoscopy for any indication in 1998–2003 or 2004–2007, comprising patients diagnosed with adenomas or serrated polyps and polyp-free controls who gave buccal-cell or blood samples and completed a structured questionnaire; its advanced-adenoma cases and matched polyp-free controls were genotyped for consortium genome-wide studies of colorectal cancer."; 781; 1859; "SMS", "SMS AD", "SMS_AD", "Screening Markers for Colorectal Cancer Study (advanced adenomas)"; ; rdfs:label "Screening Markers for Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10264 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:258f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10262; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24875374+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a case-control study of the association between subsets of colorectal polyps, including adenomas and serrated polyps, and single-nucleotide polymorphisms (SNPs) related to colorectal cancer through prior genome-wide association studies (GWAS)." . _:25902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10264; "colorectal polyps"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24875374+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a case-control study of the association between subsets of colorectal polyps, including adenomas and serrated polyps, and single-nucleotide polymorphisms (SNPs) related to colorectal cancer through prior genome-wide association studies (GWAS)." . _:25912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0286-6/MediaObjects/41588_2018_286_MOESM1_ESM.pdf"; rdfs:comment "Participants were enrollees in an integrated health-care delivery system in western Washington State (Kaiser Permanente Washington (formerly Group Health Cooperative, Seattle, Washington)) aged 24–79 years who underwent an index colonoscopy for any indication between 1998 and 2007 and donated a buccal-cell or blood sample for genotyping analysis." . _:25922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9992283/"; rdfs:comment "SMS and REACH: This work was supported by the National Cancer Institute (grant P01 CA074184 to J.D. Potter and P.A. Newcomb, grants R01 CA097325, R03 CA153323, and K05 CA152715 to P.A. Newcomb, and the National Center for Advancing Translational Sciences at the National Institutes of Health (grant KL2 TR000421 to A.N. Burnett-Hartman)" . _:25932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A two-phase case-control study of colorectal polyps among enrollees of Group Health Cooperative (now Kaiser Permanente Washington), an integrated health-care delivery system in western Washington State, United States, aged 24–79 years who had an index colonoscopy for any indication in 1998–2003 or 2004–2007, comprising patients diagnosed with adenomas or serrated polyps and polyp-free controls who gave buccal-cell or blood samples and completed a structured questionnaire; its advanced-adenoma cases and matched polyp-free controls were genotyped for consortium genome-wide studies of colorectal cancer."; "PMID:24875374", "PMID:30510241"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 781; "participants with genotyping data from both recruitment phases (genotyped subset), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4082340/"; rdfs:comment "This resulted in 1,859 study participants (340 from phase 1 and 1,519 from phase 2) with genotyping data available, comprising 489 cases with adenomas only, 401 cases with serrated polyps only, 188 cases with synchronous adenomas and serrated polyps, and 781 polyp-free controls (Table 2)." . _:25952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1859; "participants with genotyping data from both recruitment phases (genotyped subset), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4082340/"; rdfs:comment "This resulted in 1,859 study participants (340 from phase 1 and 1,519 from phase 2) with genotyping data available, comprising 489 cases with adenomas only, 401 cases with serrated polyps only, 188 cases with synchronous adenomas and serrated polyps, and 781 polyp-free controls (Table 2)." . _:25962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMS"; . _:25972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMS AD"; . _:25982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMS_AD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10274; , , ; ; "GCST90301368"; "A family-based study of ischaemic stroke that from 1999 to 2011 enrolled, at clinical centres in the United States and Canada, adult probands with radiographically confirmed ischaemic stroke who had at least one living full sibling with stroke, together with their stroke-affected siblings, confirmed by central review of medical records, and where possible a stroke-free sibling, confirmed by structured telephone interview, all contacted through the proband, to search the genome for genetic risk factors for ischaemic stroke by linkage and family-based association analysis."; 555; "SWISS", "Sibling with Ischemic Stroke Study", "Siblings with Ischemic Stroke Study"; ; rdfs:label "Siblings With Ischemic Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10274 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10274; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21940970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Siblings With Ischemic Stroke Study enrolled 312 probands with ischemic stroke from 70 US and Canadian centers." . _:259a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21940970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Siblings With Ischemic Stroke Study enrolled 312 probands with ischemic stroke from 70 US and Canadian centers." . _:259b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "The Sibling with Ischemic Stroke Study (SWISS) was supported by the NINDS (R01 NS39987; PI Dr Meschia)." . _:259c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of ischaemic stroke that from 1999 to 2011 enrolled, at clinical centres in the United States and Canada, adult probands with radiographically confirmed ischaemic stroke who had at least one living full sibling with stroke, together with their stroke-affected siblings, confirmed by central review of medical records, and where possible a stroke-free sibling, confirmed by structured telephone interview, all contacted through the proband, to search the genome for genetic risk factors for ischaemic stroke by linkage and family-based association analysis."; "PMID:11882254", "PMID:21940970", "PMID:24021684"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:259d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 555; "probands and siblings in the final genome-wide scan after QC (analysed subset), 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3251509/"; rdfs:comment "After quality control filtering, the final study population consisted of 223 probands, 248 stroke-affected siblings, and 84 stroke-unaffected siblings (total sample size, 555)." . _:259e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWISS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10281; , ; "GCST90104466"; "A two-generation, family-based study in the Saguenay–Lac-Saint-Jean region of Quebec, Canada, a genetic founder population, of adolescent sibships aged 12–18 of French-Canadian origin recruited through high schools in 2003–2012, half of them exposed prenatally to maternal cigarette smoking and matched with non-exposed adolescents for maternal education and school, and of their parents (partly assessed in 2003–2012 and fully in 2012–2015), with extensive phenotyping including brain and abdominal MRI, cardiometabolic assessments and genome-wide genotyping, to investigate the aetiology, early stages and trans-generational trajectories of common cardiometabolic and brain diseases."; "SYS"; ; rdfs:label "Saguenay Youth Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10281 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:259f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10281; "prenatal exposure to maternal cigarette smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17469173+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The SYS is a retrospective study of long-term consequences of prenatal exposure to maternal cigarette smoking (PEMCS) in which multiple quantitative phenotypes are acquired over five sessions (telephone interview, home, hospital, laboratory, and school)." . _:25a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27018016%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "The cohort was recruited from the genetic founder population of the Saguenay Lac St Jean region of Quebec, Canada." . _:25a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104466"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Saguenay Youth Study is supported by the CIHR, the Heart and Stroke Foundation of Quebec, and the Canadian Foundation for Innovation." . _:25a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A two-generation, family-based study in the Saguenay–Lac-Saint-Jean region of Quebec, Canada, a genetic founder population, of adolescent sibships aged 12–18 of French-Canadian origin recruited through high schools in 2003–2012, half of them exposed prenatally to maternal cigarette smoking and matched with non-exposed adolescents for maternal education and school, and of their parents (partly assessed in 2003–2012 and fully in 2012–2015), with extensive phenotyping including brain and abdominal MRI, cardiometabolic assessments and genome-wide genotyping, to investigate the aetiology, early stages and trans-generational trajectories of common cardiometabolic and brain diseases."; "PMID:17469173", "PMID:27018016"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SYS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10287; "GCST90572789"; "An international consortium of large, well-phenotyped cohort studies, mostly population-based, formed to study the determinants and effects of thyroid diseases and thyroid function with genomic, epigenomic, transcriptomic, proteomic and metabolomic data, which meta-analyses genome-wide association data from its member cohorts on thyroid-stimulating hormone, free thyroxine, triiodothyronine, thyroid dysfunction and related traits and makes the summary statistics available."; 271040; "The ThyroidOmics Consortium", "ThyroidOmics"; ; rdfs:label "ThyroidOmics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10287 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10287; "thyroid disease"; "https://genepi.med.uni-greifswald.de/thyroidomics/"; rdfs:comment "The ThyroidOmics Consortium was formed to study the determinants and effects of thyroid diseases and thyroid function, using various omics technologies in multiple large and well-phenotyped cohort studies." . _:25a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90572789"; "Genome-wide association study and polygenic risk prediction of hypothyroidism."; "PMID:41238958", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12695664/supplementaryFiles"; rdfs:comment "The SumHer heritability estimates seem to be quite heterogeneous, e.g., the heritability of TSH in the ThyroidOmics meta-analysis is less than the TSH variance explained by the independent index SNPs in that study." . _:25a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of large, well-phenotyped cohort studies, mostly population-based, formed to study the determinants and effects of thyroid diseases and thyroid function with genomic, epigenomic, transcriptomic, proteomic and metabolomic data, which meta-analyses genome-wide association data from its member cohorts on thyroid-stimulating hormone, free thyroxine, triiodothyronine, thyroid dysfunction and related traits and makes the summary statistics available."; "PMID:30367059", "PMID:38291025", "https://genepi.med.uni-greifswald.de/thyroidomics/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 271040; "euthyroid individuals (maximum N) in the 2024 reference-range thyroid function GWAS meta-analysis of 46 cohorts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10828500/fullTextXML"; rdfs:comment "We conducted GWAS meta-analyses of reference range thyroid function including up to 271,040 euthyroid individuals from European ancestry across 46 predominantly population-based cohorts from the ThyroidOmics Consortium." . _:25a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ThyroidOmics"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10293; , ; "GCST90044894"; "A multicentre randomized clinical trial funded by the US National Institute of Diabetes and Digestive and Kidney Diseases that from 2004 to 2009 enrolled children and adolescents aged 10–17 years with type 2 diabetes of less than two years' duration, a body-mass index at or above the 85th percentile and no diabetes autoantibodies at 15 clinical centres in the United States, and compared metformin alone with metformin plus rosiglitazone or plus an intensive lifestyle intervention for durable glycaemic control until 2011; its participants were then followed into adulthood in the observational TODAY2 study (2011–2020)."; 699; "TODAY", "TODAY2", "Treatment Options for type 2 Diabetes in Adolescents and Youth"; ; rdfs:label "Treatment Options for Type 2 Diabetes in Adolescents and Youth"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10293 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10293; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22540912+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared the efficacy of three treatment regimens to achieve durable glycemic control in children and adolescents with recent-onset type 2 diabetes." . _:25aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11570374/fullTextXML"; rdfs:comment "Briefly, 699 participants, 10 to 17 years old, diagnosed with type 2 diabetes by American Diabetes Association criteria, with duration 2 years or less, body mass index (BMI) ≥ 85th percentile for age and sex, were enrolled across 15 clinical centers in the United States" . _:25ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90044894"; "Genome-wide Association Study of Lipid Traits in Youth With Type 2 Diabetes."; "PMID:34568709", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34568709+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped 206 928 variants and imputed 17 642 824 variants in 1076 youth (mean age 15.0 ± 2.48 years) with T2D from the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) and SEARCH for Diabetes in Youth (SEARCH) studies as part of the Progress in Diabetes Genetics in Youth (ProDiGY) consortium." . _:25ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomized clinical trial funded by the US National Institute of Diabetes and Digestive and Kidney Diseases that from 2004 to 2009 enrolled children and adolescents aged 10–17 years with type 2 diabetes of less than two years' duration, a body-mass index at or above the 85th percentile and no diabetes autoantibodies at 15 clinical centres in the United States, and compared metformin alone with metformin plus rosiglitazone or plus an intensive lifestyle intervention for durable glycaemic control until 2011; its participants were then followed into adulthood in the observational TODAY2 study (2011–2020)."; "PMID:17448130", "PMID:22540912", "PMID:38815053"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 699; "participants randomised to a treatment group (2009)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3478667/unicode"; rdfs:comment "Of the 1211 children and adolescents who were screened, 927 (76.5%) entered the run-in phase and 699 (75.4%) were randomly assigned to a treatment group, for an overall enrollment rate of 57.7%." . _:25ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TODAY"; . _:25af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TODAY2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10301; , ; "GCST90709786"; "A prospective, multicentre, longitudinal epidemiological and biomarker study of Parkinson's disease in the United Kingdom, funded by Parkinson's UK, that recruited patients aged 18–90 with a clinical diagnosis of Parkinson's disease of recent onset (diagnosed within the preceding 3.5 years) or young onset (diagnosed at or before age 50) at 72 National Health Service secondary-care sites, together with unaffected siblings of patients, and follows them with repeated motor, non-motor and quality-of-life assessments, genotyping and biosamples, to explain variation in the clinical phenotype of Parkinson's disease, including its relation to genetic variation."; 2247; "PRoBaND", "Parkinson's repository of biosamples and networked datasets", "TP", "TPD", "Tracking Parkinson's Disease"; ; rdfs:label "Tracking Parkinson's"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10301 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10301; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26485428+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients attending specialist clinics in the United Kingdom with recent onset (<3.5 years) and young onset (diagnosed <50 years of age) PD were enrolled." . _:25b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "Patients were recruited at 72 secondary healthcare centres that are part of the UK National Health Service." . _:25b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709786"; "Genome-wide determinants of mortality and motor progression in Parkinson's disease."; "PMID:38849413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "Tracking Parkinson’s is a longitudinal, prospective, multi-centre observational study in the UK51." . _:25b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre, longitudinal epidemiological and biomarker study of Parkinson's disease in the United Kingdom, funded by Parkinson's UK, that recruited patients aged 18–90 with a clinical diagnosis of Parkinson's disease of recent onset (diagnosed within the preceding 3.5 years) or young onset (diagnosed at or before age 50) at 72 National Health Service secondary-care sites, together with unaffected siblings of patients, and follows them with repeated motor, non-motor and quality-of-life assessments, genotyping and biosamples, to explain variation in the clinical phenotype of Parkinson's disease, including its relation to genetic variation."; "PMID:26485428", "PMID:38849413"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2247; "Parkinson's disease patients recruited (recent onset and young onset); siblings not included (2015)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4927877/"; rdfs:comment "2247 PD cases were recruited (1987 recent onset, 260 young onset)." . _:25b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRoBaND"; . _:25b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TP"; . _:25b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TPD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10310; , ; ; "GCST90704646"; "A case-control cohort from Universitatsklinikum Saarlandes, Germany, consisting of individuals clinically diagnosed with sporadic Alzheimer's disease together with cognitively healthy, age-, gender- and ethnicity-matched population-based controls."; 596; 170; "UKS", "UKS cohort", "Universitatsklinikum Saarlandes"; ; rdfs:label "Universitatsklinikum Saarlandes case-control dataset"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10310 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10310; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "The UKS cohort is a thoroughly diagnosed case-control cohort from Universitatsklinikum Saarlandes, consisting of individuals clinically diagnosed with sporadic Alzheimer’s disease (N = 596; age-at-onset [mean ± SD]: 72.2 ± 6.6 years) and cognitively healthy, age-, gender-, and ethnicity-matched population-based controls (N = 170; age-at-exam: 64.1 ± 3.0 years)." . _:25b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704646"; "Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias."; "PMID:42237039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13263136/supplementaryFiles"; rdfs:comment "UKS: The UKS cohort is a thoroughly diagnosed case-control cohort from Universitatsklinikum Saarlandes, consisting of individuals clinically diagnosed with sporadic Alzheimer’s disease (N = 596; age-at-onset [mean ± SD]: 72.2 ± 6.6 years) and cognitively healthy, age-, gender-, and ethnicity-matched population-based controls (N = 170; age-at-exam: 64.1 ± 3.0 years)." . _:25ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control cohort from Universitatsklinikum Saarlandes, Germany, consisting of individuals clinically diagnosed with sporadic Alzheimer's disease together with cognitively healthy, age-, gender- and ethnicity-matched population-based controls."; "PMID:42237039"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:25bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 596; "AD cases and population-based controls in the UKS case-control dataset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "UKS: The UKS cohort is a thoroughly diagnosed case-control cohort from Universitatsklinikum Saarlandes, consisting of individuals clinically diagnosed with sporadic Alzheimer’s disease (N = 596; age-at-onset [mean ± SD]: 72.2 ± 6.6 years) and cognitively healthy, age-, gender-, and ethnicity-matched population-based controls (N = 170; age-at-exam: 64.1 ± 3.0 years)." . _:25bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 170; "AD cases and population-based controls in the UKS case-control dataset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-026-02583-1/MediaObjects/41588_2026_2583_MOESM1_ESM.pdf"; rdfs:comment "UKS: The UKS cohort is a thoroughly diagnosed case-control cohort from Universitatsklinikum Saarlandes, consisting of individuals clinically diagnosed with sporadic Alzheimer’s disease (N = 596; age-at-onset [mean ± SD]: 72.2 ± 6.6 years) and cognitively healthy, age-, gender-, and ethnicity-matched population-based controls (N = 170; age-at-exam: 64.1 ± 3.0 years)." . _:25bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10317, _:genid-371333f489424440b12a13b9d98ced822608-genid10319, _:genid-371333f489424440b12a13b9d98ced822608-genid10321; , ; "GCST90432152"; "A randomised controlled screening trial of Viborg Hospital in which the men aged 65-74 living in the Central Denmark Region were randomised, from October 2008, either to an invitation to combined screening for abdominal aortic aneurysm, peripheral arterial disease and hypertension, with preventive treatment for those found to have disease, or to no invitation, to assess the effect of screening on all-cause mortality and its cost-effectiveness."; "The acronym VIVA also denotes Project Viva (COHO:0001254); this term is Viborg Vascular."@en; 50156; "VIVA", "VIVA screening trial", "Viborg Vascular screening trial"; ; rdfs:label "Viborg Vascular"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10321 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10317; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20507582+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objective of this study is to assess the efficacy and the cost-effectiveness of a combined screening program for AAA, PAD and hypertension." . _:25bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10319; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20507582+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objective of this study is to assess the efficacy and the cost-effectiveness of a combined screening program for AAA, PAD and hypertension." . _:25c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10321; "peripheral arterial disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20507582+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objective of this study is to assess the efficacy and the cost-effectiveness of a combined screening program for AAA, PAD and hypertension." . _:25c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2891736/fullTextXML"; rdfs:comment "ABI measurement, ultrasound scan of the aorta in addition to a questionnaire regarding lifestyle parameters, medical and smoking status is performed by trained project-nurses in 3 mobile units at local hospitals in the mid region of Jutland, Denmark." . _:25c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432152"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "The VIVA screening trial is a randomized, clinically controlled study designed to evaluate the benefits of vascular screening and modern vascular prophylaxis in a population of 50,000 men aged 65-74 years, randomized to either receive an invitation for vascular screening or being a control." . _:25c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised controlled screening trial of Viborg Hospital in which the men aged 65-74 living in the Central Denmark Region were randomised, from October 2008, either to an invitation to combined screening for abdominal aortic aneurysm, peripheral arterial disease and hypertension, with preventive treatment for those found to have disease, or to no invitation, to assess the effect of screening on all-cause mortality and its cost-effectiveness."; "PMID:20507582"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50156; "men randomised to screening or no screening"; "PMID:29691840"; rdfs:comment "A cost-effectiveness evaluation was conducted alongside an RCT involving all men from a region in Denmark (50 156) who were allocated to screening (25 078) or no screening (25 078) and followed for up to 5 years." . _:25c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIVA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10328; "GCST90704649"; "The cancer registry of the West Bank, kept by the Palestinian Ministry of Health, which records incident cancer cases among West Bank residents; it continues the West Bank part of the population-based Palestinian Cancer Registry, established in 1996 and working regularly from 1998, which was split into separate West Bank and Gaza registries in 2007."; "WBCR"; ; rdfs:label "West Bank Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10328 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10328; "cancer"; "https://www.un.org/unispal/document/auto-insert-204882/"; rdfs:comment "Palestinian Cancer Registry (PCR) is a population-based registry established in 1996 under the umbrella of the Ministry of Health and started its regular work in 1998." . _:25c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704649"; "European-based polygenic risk score and genome-wide association study of B-cell non-Hodgkin lymphoma subtypes in Israeli Jews and Palestinian Arabs."; "PMID:40887045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12624183/supplementaryFiles"; rdfs:comment "West Bank Cancer Registry" . _:25c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The cancer registry of the West Bank, kept by the Palestinian Ministry of Health, which records incident cancer cases among West Bank residents; it continues the West Bank part of the population-based Palestinian Cancer Registry, established in 1996 and working regularly from 1998, which was split into separate West Bank and Gaza registries in 2007."; "PMID:41969536", "https://www.un.org/unispal/document/auto-insert-204882/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WBCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10333; , ; ; "GCST90301368"; "A hospital-based collection of ischaemic stroke patients admitted from August 2008 to Barnes-Jewish Hospital/Washington University Medical Center in St. Louis, Missouri, identified by screening emergency department and inpatient stroke service admissions regardless of age, race or ethnicity and followed up at 90 days, whose DNA came from an acute tPA pharmacogenomics study, the Recovery Genomics after Ischemic Stroke (ReGenesIS) study and the Cognitive Rehabilitation and Recovery Group (CRRG) stroke registry; one of the genetic research centres of the NINDS Stroke Genetics Network."; 535; 535; "WUSTL", "Washington University St. Louis Study"; ; rdfs:label "Washington University St. Louis Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10333; "ischemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The WUSTL patient collection included ischemic stroke cases admitted to Barnes-Jewish Hospital/Washington University Medical Center (St. Louis, MO, U.S.A.) for genetic studies starting from August 1, 2008." . _:25cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The WUSTL patient collection included ischemic stroke cases admitted to Barnes-Jewish Hospital/Washington University Medical Center (St. Louis, MO, U.S.A.) for genetic studies starting from August 1, 2008." . _:25cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301368"; "Evidence of survival bias in the association between APOE-Є4 and age at ischemic stroke onset."; "PMID:39286457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11403718/supplementaryFiles"; rdfs:comment "WUSTL: Washington University St. Louis Stroke Study (WUSTL): The collection, extraction of DNA from blood, and storage of specimens were supported by 2 NINDS NIH grants (P50 NS055977 and R01 NS8541901)." . _:25cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based collection of ischaemic stroke patients admitted from August 2008 to Barnes-Jewish Hospital/Washington University Medical Center in St. Louis, Missouri, identified by screening emergency department and inpatient stroke service admissions regardless of age, race or ethnicity and followed up at 90 days, whose DNA came from an acute tPA pharmacogenomics study, the Recovery Genomics after Ischemic Stroke (ReGenesIS) study and the Cognitive Rehabilitation and Recovery Group (CRRG) stroke registry; one of the genetic research centres of the NINDS Stroke Genetics Network."; "PMID:24021684", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 535; "ischaemic stroke cases recruited 2008-2012 (cases being phenotyped for SiGN), 2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4056331/"; rdfs:comment "WUSTL* St. Louis, USA Hospital-based 2008–2012 535 20–90 42 47 28" . _:25cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 535; "ischaemic stroke cases recruited 2008-2012 (cases being phenotyped for SiGN), 2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4056331/"; rdfs:comment "WUSTL* St. Louis, USA Hospital-based 2008–2012 535 20–90 42 47 28" . _:25d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WUSTL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10341; , ; , ; ; "GCST90104550"; "The subset of the African American participants of the REGARDS cohort that the Sea Islands Genetics Network (SIGNET) project genotyped on the Affymetrix 6.0 array: all African American REGARDS participants with type 2 diabetes recruited in South Carolina, Georgia, North Carolina and Alabama, an equal number of diabetes-free controls matched by sex and age strata, and all other participants living in the 15-county Low Country region of South Carolina and Georgia."; 1141; 1243; 2384; "SIGNET", "SIGNET-REGARDS", "Sea Islands Genetic Network – Reasons for Geographic And Racial Differences in Stroke"; ; rdfs:label "Sea Islands Genetics Network – Reasons for Geographic and Racial Differences in Stroke"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10341 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10341; "type 2 diabetes" . _:25d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4912948/"; rdfs:comment "SIGNET-REGARDS U.S.A. Affy 6.0 AFR 258 2,094" . _:25d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/supplementaryFiles"; rdfs:comment "Only the REGARDS sample from the SIGNET project was included in this investigation, and is referred to as SIGNET-REGARDS." . _:25d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104550"; "Stroke genetics informs drug discovery and risk prediction across ancestries."; "PMID:36180795", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9524349/supplementaryFiles"; rdfs:comment "The subset of REGARDS participants genotyped under SIGNET are referred to as SIGNET-REGARDS." . _:25d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The subset of the African American participants of the REGARDS cohort that the Sea Islands Genetics Network (SIGNET) project genotyped on the Affymetrix 6.0 array: all African American REGARDS participants with type 2 diabetes recruited in South Carolina, Georgia, North Carolina and Alabama, an equal number of diabetes-free controls matched by sex and age strata, and all other participants living in the 15-county Low Country region of South Carolina and Georgia."; "PMID:25102180", "PMID:28430825"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1141; "SIGNET-REGARDS participants with GWAS genotyping (1,141 with and 1,243 without diabetes)"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1004517.s014"; rdfs:comment "GWAS genotyping was completed for 2,384 SIGNET-REGARDS participants used in this study, including 1,141 with diabetes and 1,243 without diabetes." . _:25d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1243; "SIGNET-REGARDS participants with GWAS genotyping (1,141 with and 1,243 without diabetes)"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1004517.s014"; rdfs:comment "GWAS genotyping was completed for 2,384 SIGNET-REGARDS participants used in this study, including 1,141 with diabetes and 1,243 without diabetes." . _:25d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2384; "SIGNET-REGARDS participants with GWAS genotyping (1,141 with and 1,243 without diabetes)"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1004517.s014"; rdfs:comment "GWAS genotyping was completed for 2,384 SIGNET-REGARDS participants used in this study, including 1,141 with diabetes and 1,243 without diabetes." . _:25d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIGNET"; . _:25da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIGNET-REGARDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10352; , ; ; "GCST90104085"; "The Parkinson's disease genome-wide case-control study of the Wellcome Trust Case Control Consortium 2 and the UK Parkinson's Disease Consortium: UK patients with idiopathic Parkinson's disease meeting UK Brain Bank criteria, randomly selected from population- and hospital-based clinics through five UK centres and genotyped at the Wellcome Trust Sanger Institute, compared with the WTCCC2 controls from the 1958 British Birth Cohort and the UK Blood Services."; 2190; 5667; "EBI MERGE", "Genome-wide association scan in Parkinson's disease"; ; rdfs:label "Wellcome Trust Case Control Consortium 2 Parkinson's disease study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10352 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10352; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21044948+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS." . _:25dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3005904/fullTextXML"; rdfs:comment "UK PD cases were randomly selected from population and hospital-based clinics with an emphasis on sporadic cases with no family history for this disease." . _:25dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104085"; "Common X-Chromosome Variants Are Associated with Parkinson Disease Risk."; "PMID:33583074", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8601399/unicode"; rdfs:comment "The PD cohorts include the International PD Genomics Consortium (IPDGC) NeuroX dataset, the National Institute of Neurological Disorders and Stroke (NINDS) PD dataset, the Autopsy-Confirmed PD GWAS Consortium (APDGC) dataset genotyped by the Center for Inherited Disease Research, the NeuroGenetics Research Consortium (NGRC) dataset, the UK PD Consortium, and the Wellcome Trust Case Control Consortium 2, referred to here as EBI MERGE." . _:25de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Parkinson's disease genome-wide case-control study of the Wellcome Trust Case Control Consortium 2 and the UK Parkinson's Disease Consortium: UK patients with idiopathic Parkinson's disease meeting UK Brain Bank criteria, randomly selected from population- and hospital-based clinics through five UK centres and genotyped at the Wellcome Trust Sanger Institute, compared with the WTCCC2 controls from the 1958 British Birth Cohort and the UK Blood Services."; "PMID:21044948"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2190; "PD cases and WTCCC2 population controls before exclusions (2010)"; "PMID:21044948"; rdfs:comment "Prior to any exclusion, the full data set comprised 2190 individuals with idiopathic PD, and 5667 population controls." . _:25e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5667; "PD cases and WTCCC2 population controls before exclusions (2010)"; "PMID:21044948"; rdfs:comment "Prior to any exclusion, the full data set comprised 2190 individuals with idiopathic PD, and 5667 population controls." . _:25e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EBI MERGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10360; , ; ; "GCST90026609"; "A double-blind, placebo-controlled, randomised phase III trial of the Cancer and Leukemia Group B that enrolled patients with previously untreated locally advanced or metastatic pancreatic cancer at its participating institutions in the United States between June 2004 and April 2006, comparing gemcitabine plus bevacizumab with gemcitabine plus placebo, with overall survival as the primary end point."; 602; "Cancer and Leukemia Group B 80303"; ; rdfs:label "CALGB 80303"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10360 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10360; "advanced pancreatic cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20606091+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "These encouraging data led Cancer and Leukemia Group B (CALGB) to conduct a double-blind, placebo-controlled, randomized phase III trial of gemcitabine/bevacizumab versus gemcitabine/placebo in advanced pancreatic cancer patients." . _:25e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2917317/"; rdfs:comment "The following institutions participated in this study: Delaware Christiana Care Community Clinical Oncology Program (CCOP) and Helen F. Graham Cancer Center, Wilmington, DE" . _:25e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026609"; "Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients."; "PMID:34616010", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8770703/"; rdfs:comment "Two studies included only female patients (breast cancer, CALGB 40503 and 40502), one study included only male patients (prostate cancer, CALGB 90401), and one study included both female and male patients (pancreatic cancer, CALGB 80303)." . _:25e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A double-blind, placebo-controlled, randomised phase III trial of the Cancer and Leukemia Group B that enrolled patients with previously untreated locally advanced or metastatic pancreatic cancer at its participating institutions in the United States between June 2004 and April 2006, comparing gemcitabine plus bevacizumab with gemcitabine plus placebo, with overall survival as the primary end point."; "PMID:20606091", "https://clinicaltrials.gov/api/v2/studies/NCT00088894"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 602; "patients enrolled and randomised 2004-2006"; "PMID:20606091"; rdfs:comment "Between June 2004 and April 2006, 602 patients were enrolled onto the study and 535 were treated." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10366; , ; ; "GCST90026609"; "A randomised, double-blind, placebo-controlled phase III trial designed by the Cancer and Leukemia Group B and endorsed by the Eastern Cooperative Oncology Group that enrolled men with chemotherapy-naive progressive metastatic castration-resistant prostate cancer at participating institutions in the United States between May 2005 and December 2007, comparing docetaxel and prednisone with or without bevacizumab, with overall survival as the primary end point."; 1050; "CALGB (Alliance) 90401"; ; rdfs:label "CALGB 90401"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10366 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10366; "metastatic castration-resistant prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22454414+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A randomized, placebo-controlled study based on preclinical and clinical data that supports the potential role of vascular endothelial growth factor in prostate cancer was performed to evaluate the addition of bevacizumab to standard docetaxel and prednisone therapy in patients with metastatic castration-resistant prostate cancer (mCRPC)." . _:25e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3383121/"; rdfs:comment "The following institutions (with supporting Grant No. in parentheses) participated in this study: Board of Regents of the University of Oklahoma, Oklahoma City, OK" . _:25e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026609"; "Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients."; "PMID:34616010", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8770703/"; rdfs:comment "Two studies included only female patients (breast cancer, CALGB 40503 and 40502), one study included only male patients (prostate cancer, CALGB 90401), and one study included both female and male patients (pancreatic cancer, CALGB 80303)." . _:25ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled phase III trial designed by the Cancer and Leukemia Group B and endorsed by the Eastern Cooperative Oncology Group that enrolled men with chemotherapy-naive progressive metastatic castration-resistant prostate cancer at participating institutions in the United States between May 2005 and December 2007, comparing docetaxel and prednisone with or without bevacizumab, with overall survival as the primary end point."; "PMID:22454414", "https://clinicaltrials.gov/api/v2/studies/NCT00110214"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1050; "men randomly assigned"; "PMID:22454414"; rdfs:comment "In total, 1,050 patients were randomly assigned." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10372; , ; "GCST90301397"; "A multi-omics colon cancer study run by the Catalan Institute of Oncology of patients with microsatellite-stable stage II colon adenocarcinoma who had radical surgery without adjuvant therapy at Bellvitge University Hospital (Barcelona, Spain) in 1996-2000 and were selected in 2012; their tumour and paired adjacent normal mucosa, with colon mucosa from healthy donors undergoing colonoscopy as reference, were profiled for gene expression, DNA methylation, SNPs, copy number and miRNAs to find diagnostic and prognostic biomarkers of colorectal cancer."; 100; 50; "CLX", "COLONOMICS"; ; rdfs:label "Colonomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10372 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10372; "colon cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9526730/unicode"; rdfs:comment "Here we present Colonomics (https://www.colonomics.org/), a multi-omics dataset that comprises 100 stage II colon cancer patients from which samples of tumoral tissue (T) and paired normal adjacent tissue (N) were obtained from the surgical specimen." . _:25ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9526730/unicode"; rdfs:comment "Colon cancer patients were retrospectively selected during 2012 from those that had received radical surgery in the Bellvitge University Hospital (Barcelona, Spain) between January 1996 and December 2000, and had fresh frozen tumor samples in the hospital biobank." . _:25ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301397"; "Germline genetic regulation of the colorectal tumor immune microenvironment."; "PMID:38664626", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046907/fullTextXML"; rdfs:comment "Three independent data sets were available for replication of our discovery phase findings: Colonomics (“CLX”, N = 99; clonality, abundance, TILs/hpf), the CRC Genetics Study (“CRCGEN”, N = 162; clonality, abundance), and the Nurses’ Health Study and the Health Professionals Follow-up Study (N = 505; TILs)." . _:25ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-omics colon cancer study run by the Catalan Institute of Oncology of patients with microsatellite-stable stage II colon adenocarcinoma who had radical surgery without adjuvant therapy at Bellvitge University Hospital (Barcelona, Spain) in 1996-2000 and were selected in 2012; their tumour and paired adjacent normal mucosa, with colon mucosa from healthy donors undergoing colonoscopy as reference, were profiled for gene expression, DNA methylation, SNPs, copy number and miRNAs to find diagnostic and prognostic biomarkers of colorectal cancer."; "PMID:36182938", "https://www.colonomics.org/home/team/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100; "stage II colon cancer patients (paired tumour/normal) and healthy mucosa donors (2012)"; "PMID:36182938"; rdfs:comment "Colonomics is a multi-omics dataset that includes 250 samples: 50 samples from healthy colon mucosa donors and 100 paired samples from colon cancer patients (tumor/adjacent)." . _:25f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50; "stage II colon cancer patients (paired tumour/normal) and healthy mucosa donors (2012)"; "PMID:36182938"; rdfs:comment "Colonomics is a multi-omics dataset that includes 250 samples: 50 samples from healthy colon mucosa donors and 100 paired samples from colon cancer patients (tumor/adjacent)." . _:25f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLX"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10380; , ; ; "GCST90026609"; "A randomised, multicentre trial of the Cancer and Leukemia Group B (now the Alliance for Clinical Trials in Oncology), begun in the United States in 2008, of first-line endocrine therapy alone or with bevacizumab for women with hormone receptor-positive advanced-stage breast cancer who were postmenopausal or receiving ovarian suppression: a phase III comparison with letrozole, run in parallel with a phase II comparison with tamoxifen."; 394; ; rdfs:label "CALGB 40503"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10380 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:25f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10380; "hormone receptor-positive metastatic breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27138575+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Women with hormone receptor-positive MBC were randomly assigned 1:1 in a multicenter, open-label, phase III trial of letrozole (2.5 mg orally per day) with or without bevacizumab (15 mg/kg intravenously once every 3 weeks) within strata defined by measurable disease and disease-free interval." . _:25f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5012690/"; rdfs:comment "The following institutions (along with the principal investigator and grant number) participated in this study: Colorado Cancer Research Program (National Cancer Institute Community Oncology Research Program [NCORP]), Denver, CO" . _:25f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026609"; "Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients."; "PMID:34616010", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8770703/"; rdfs:comment "The genotyping and QC for CALGB 40503 has not been previously reported and it is described in the Supplementary File." . _:25f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, multicentre trial of the Cancer and Leukemia Group B (now the Alliance for Clinical Trials in Oncology), begun in the United States in 2008, of first-line endocrine therapy alone or with bevacizumab for women with hormone receptor-positive advanced-stage breast cancer who were postmenopausal or receiving ovarian suppression: a phase III comparison with letrozole, run in parallel with a phase II comparison with tamoxifen."; "PMID:27138575", "https://clinicaltrials.gov/api/v2/studies/NCT00601900"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 394; "women enrolled across the letrozole phase III and tamoxifen phase II parts (registry actual enrolment)"; "https://clinicaltrials.gov/api/v2/studies/NCT00601900"; rdfs:comment "\"enrollmentInfo\":{\"count\":394,\"type\":\"ACTUAL\"}" . a owl:NamedIndividual, ; , , ; "GCST90841194"; "A research cohort of customers of 23Mofang (Chengdu 23Mofang Biotechnology Co., Ltd.), a Chinese direct-to-consumer genetic testing company, who were genotyped through its personal genome service and consented to the research use of their genotypes and of traits they self-reported in the company's web-based surveys."; "23Mofang Inc. cohort", "23mofang", "23mofang Personal Genome Services"; ; rdfs:label "23Mofang cohort"@en . _:25f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6428856/fullTextXML"; rdfs:comment "The aiming population was exclusively defined so all individuals recruited were Chinese citizens." . _:25f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841194"; "Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction."; "PMID:42009823", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13175889/fullTextXML"; rdfs:comment "The cohort comprised 47,305 self-reported myopic people and 8,209 nonmyopic people, all of whom provided informed consent and underwent genotyping as part of the 23Mofang Personal Genome Services." . _:25fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research cohort of customers of 23Mofang (Chengdu 23Mofang Biotechnology Co., Ltd.), a Chinese direct-to-consumer genetic testing company, who were genotyped through its personal genome service and consented to the research use of their genotypes and of traits they self-reported in the company's web-based surveys."; "PMID:30899065", "PMID:42009823"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "23mofang"; . a owl:NamedIndividual, ; , ; "GCST90454200"; "A normative craniofacial study begun in 2009 as part of the FaceBase Consortium of the US National Institute of Dental and Craniofacial Research, which recruited healthy people aged 3 to 40 of self-reported European ancestry and without craniofacial conditions at four US sites (Pittsburgh, Seattle, Houston and Iowa City), collecting 3D facial surface images, anthropometric measurements, a demographic questionnaire and saliva DNA for genome-wide genotyping, and shares the data through a web-based repository."; 2454; "3D Facial Norms", "3D Facial Norms Database", "3D Facial Norms Dataset", "3D Facial Norms Project", "3D Facial Norms dataset", "3DFN", "PITT", "Pittsburgh 3D Facial Norms", "Pittsburgh 3D Facial Norms study", "Pittsburgh 3DFN cohort"; ; rdfs:label "3D Facial Norms cohort"@en . _:25fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4841054/fullTextXML"; rdfs:comment "Participants were recruited at four US sites: Pittsburgh, Seattle, Houston, and Iowa City." . _:25fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454200"; "Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population."; "PMID:39622794", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11612227/fullTextXML"; rdfs:comment "The US control dataset (n = 4680) was collected previously and included samples from the 3D Facial Norms cohort and studies at the Pennsylvania State University and Indiana University-Purdue University Indianapolis." . _:25fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A normative craniofacial study begun in 2009 as part of the FaceBase Consortium of the US National Institute of Dental and Craniofacial Research, which recruited healthy people aged 3 to 40 of self-reported European ancestry and without craniofacial conditions at four US sites (Pittsburgh, Seattle, Houston and Iowa City), collecting 3D facial surface images, anthropometric measurements, a demographic questionnaire and saliva DNA for genome-wide genotyping, and shares the data through a web-based repository."; "PMID:26492185", "PMID:27110347"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:25ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2454; "participants in the 3DFN database (952 males, 1502 females), 2016"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4841760/"; rdfs:comment "The 3DFN database currently consists of 2454 male and female participants ranging in age from 3–40 years." . _:26002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3DFN"; . _:26012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PITT"; . a owl:NamedIndividual, ; , , ; "GCST90255364"; "A multi-omics cohort of adult Chinese volunteers in Shenzhen, China, run by BGI-Shenzhen and recruited largely at annual physical examinations from 2017 (some gave samples from 2015), with sampling repeated over time. It combines whole-genome sequencing, metagenomes of the gut, mouth and other body sites, plasma metabolites, medical tests and questionnaires on diet and lifestyle, to study how host genetics and environment shape the microbiome and health."; 2984; "4D-SZ", "4D-SZ study"; ; rdfs:label "4D-SZ cohort"@en . _:26022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8648780/fullTextXML"; rdfs:comment "The 4D-SZ cohort (multi-omics, with more data to come, from Shenzhen, China) at present have high-depth whole-genome sequencing data from 2984 individuals" . _:26032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255364"; "Sex differences in the oral microbiome, host traits, and their causal relationships."; "PMID:36660475", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9843272/fullTextXML"; rdfs:comment "The 4D-SZ cohort is a well-designed multi-omics cohort,15,16,17,18 with shotgun data for the metagenome across multiple body sites and the host genome, as well as metabolic traits, detailed questionnaires, and clinical information." . _:26042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-omics cohort of adult Chinese volunteers in Shenzhen, China, run by BGI-Shenzhen and recruited largely at annual physical examinations from 2017 (some gave samples from 2015), with sampling repeated over time. It combines whole-genome sequencing, metagenomes of the gut, mouth and other body sites, plasma metabolites, medical tests and questionnaires on diet and lifestyle, to study how host genetics and environment shape the microbiome and health."; "PMID:33563976", "PMID:34118463", "PMID:34873157"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2984; "Shenzhen participants with high-depth whole-genome sequencing (as of 2021)"; "PMID:34873157"; rdfs:comment "The 4D-SZ cohort (multi-omics, with more data to come, from Shenzhen, China) at present have high-depth whole-genome sequencing data from 2984 individuals (mean depth of 33×, ranging from 15× to 78×, Supplementary Table S1 and Fig." . _:26062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4D-SZ"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. The Asian Indian Diabetic Heart Study is the same cohort as the Sikh Diabetes Study, which its investigators write as AIDHS/SDS ('the AIDHS (also named the SDS)', PMID:23300278); it was minted twice, once from each of the catalog tags AIDHS and SDS. COHO:0001116 (Asian Indian Diabetic Heart Study/Sikh Diabetes Study) replaces it and carries all its names."; rdfs:label "obsolete Asian Indian Diabetic Heart Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10401, _:genid-371333f489424440b12a13b9d98ced822608-genid10403; , ; ; "GCST90244057"; "A multicentre prospective study sponsored by the US National Eye Institute that recruited people aged 55 to 80, with or without age-related macular degeneration or lens opacities, at 11 retinal specialty clinics in the United States from 1992 to 1998 and followed them to 2005. It studied the clinical course and risk factors of age-related macular degeneration and cataract, and included randomised, placebo-controlled trials of high-dose antioxidant vitamins and zinc for these conditions."; "The acronym AREDS also denotes Age-Related Eye Disease Study 2 (COHO:0001143); this term is Age-Related Eye Disease Study."@en; 4757; "AREDS"; ; rdfs:label "Age-Related Eye Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10401 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10403 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10401; "age-related cataract"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10588299+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Age-Related Eye Disease Study (AREDS) was initially conceived as a long-term multicenter, prospective study of the clinical course of age-related macular degeneration (AMD) and age-related cataract." . _:26082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10403; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10588299+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Age-Related Eye Disease Study (AREDS) was initially conceived as a long-term multicenter, prospective study of the clinical course of age-related macular degeneration (AMD) and age-related cataract." . _:26092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13157973/fullTextXML"; rdfs:comment "Briefly, 4757 participants aged 55 to 80 years were recruited between 1992 and 1998 at 11 retinal specialty clinics in the United States." . _:260a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244057"; "Rare variant analyses across multiethnic cohorts identify novel genes for refractive error."; "PMID:36596879", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/supplementaryFiles"; rdfs:comment "For the current analysis, 1562 participants aged 60 and older were included from the AREDS 1a, 1b and 1c population." . _:260b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective study sponsored by the US National Eye Institute that recruited people aged 55 to 80, with or without age-related macular degeneration or lens opacities, at 11 retinal specialty clinics in the United States from 1992 to 1998 and followed them to 2005. It studied the clinical course and risk factors of age-related macular degeneration and cataract, and included randomised, placebo-controlled trials of high-dose antioxidant vitamins and zinc for these conditions."; "PMID:10588299", "PMID:11594942", "PMID:39826679", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000001.v3.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:260c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4757; "participants enrolled 1992-1998"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1473211/"; rdfs:comment "A total of 4757 participants were enrolled, 157 more than planned for by design." . _:260d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AREDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10410; , ; "GCST90559231"; "A multicentre, randomised, double-masked, placebo-controlled phase 3 trial sponsored by the US National Eye Institute and run from 2006 to 2012 at 82 clinical centres in the United States. It enrolled people aged 50 to 85 at risk of progressing to advanced age-related macular degeneration to test whether adding lutein plus zeaxanthin or omega-3 fatty acids to the AREDS supplement formulation, or removing beta carotene or lowering zinc, changes that risk."; "The acronym AREDS also denotes Age-Related Eye Disease Study (COHO:0001142); this term is Age-Related Eye Disease Study 2."@en; 4203; "AREDS", "AREDS2"; ; rdfs:label "Age-Related Eye Disease Study 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10410 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:260e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10410; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23644932+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Age-Related Eye Disease Study 2 (AREDS2), a multicenter, randomized, double-masked, placebo-controlled phase 3 study with a 2 × 2 factorial design, conducted in 2006-2012 and enrolling 4203 participants aged 50 to 85 years at risk for progression to advanced AMD with bilateral large drusen or large drusen in 1 eye and advanced AMD in the fellow eye." . _:260f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22840421+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We enrolled 4203 participants at 82 clinical centers located in the United States." . _:26102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559231"; "HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement."; "PMID:41361163", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685958/fullTextXML"; rdfs:comment "The AREDS2_OCT and NEI_research studies were supported by the intramural program funds and contracts from the National Eye Institute/National Institutes of Health (NEI/NIH), Department of Health and Human Services, Bethesda, MD" . _:26112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, double-masked, placebo-controlled phase 3 trial sponsored by the US National Eye Institute and run from 2006 to 2012 at 82 clinical centres in the United States. It enrolled people aged 50 to 85 at risk of progressing to advanced age-related macular degeneration to test whether adding lutein plus zeaxanthin or omega-3 fatty acids to the AREDS supplement formulation, or removing beta carotene or lowering zinc, changes that risk."; "PMID:22840421", "PMID:23644932"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4203; "participants enrolled and randomised at 82 US centres"; "PMID:22840421"; rdfs:comment "We enrolled 4203 participants at 82 clinical centers located in the United States." . _:26132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AREDS"; . _:26142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AREDS2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10418; , , , , ; "GCST90399578"; "A study of kidney function in adults with and without chronic kidney disease in sub-Saharan Africa, run by the African Research on Kidney Disease collaboration within existing population cohorts in Malawi (Karonga and Lilongwe), South Africa (the Agincourt health and demographic surveillance site) and Uganda (the General Population Cohort). It measured glomerular filtration rate by iohexol plasma clearance to test equations for estimating it, with serial biobanking, cross-sectionally in Malawi and Uganda and longitudinally in South Africa."; 3025; "ARK", "African Research Kidney Disease study", "African Research into Kidney Diseases", "African Research on Kidney Disease Study"; ; rdfs:label "African Research on Kidney Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10418 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10418; "chronic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31941441+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The optimal methods to estimate glomerular filtration rate (GFR) and therefore to determine the presence of CKD in SSA are uncertain. We plan to measure iohexol excretion to accurately determine GFR in Malawi, South Africa and Uganda." . _:26162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11134365/fullTextXML"; rdfs:comment "The African Research Kidney Disease (ARK) study is a well characterised population-based cohort study of 2021 adults (20–80 years) of self-identified black ethnicity from Agincourt, (Mpumalanga, South Africa) with demographic data, health-related questionnaire data, and anthropometric measurements collected at enrolment (Fabian et al., 2022)." . _:26172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35839814+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We measured serum creatinine, cystatin C, and glomerular filtration rate (GFR) using the slope-intercept method for iohexol plasma clearance (mGFR) in population cohorts from Malawi, Uganda, and South Africa." . _:26182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399578"; "Genetic association and transferability for urinary albumin-creatinine ratio as a marker of kidney disease in four Sub-Saharan African populations and non-continental individuals of African ancestry."; "PMID:38812969", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11134365/fullTextXML"; rdfs:comment "The African Research Kidney Disease (ARK) study is a well characterised population-based cohort study of 2021 adults (20–80 years) of self-identified black ethnicity from Agincourt, (Mpumalanga, South Africa) with demographic data, health-related questionnaire data, and anthropometric measurements collected at enrolment (Fabian et al., 2022)." . _:26192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of kidney function in adults with and without chronic kidney disease in sub-Saharan Africa, run by the African Research on Kidney Disease collaboration within existing population cohorts in Malawi (Karonga and Lilongwe), South Africa (the Agincourt health and demographic surveillance site) and Uganda (the General Population Cohort). It measured glomerular filtration rate by iohexol plasma clearance to test equations for estimating it, with serial biobanking, cross-sectionally in Malawi and Uganda and longitudinally in South Africa."; "PMID:31941441", "PMID:35839814"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:261a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3025; "people who underwent measured GFR testing (Malawi 1020, South Africa 986, Uganda 1019), 2022"; "PMID:35839814"; rdfs:comment "Of 3025 people who underwent measured GFR testing (Malawi n=1020, South Africa n=986, and Uganda n=1019), we analysed data for 2578 participants who had complete data and adequate quality measurements." . _:261b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARK"; . a owl:NamedIndividual, ; , ; "GCST90841377"; "A longitudinal study of typical cognitive aging at the University of California, Berkeley, and Lawrence Berkeley National Laboratory. It recruits cognitively normal older adults (and some young adults) living in the community in the San Francisco Bay Area through advertisements and word of mouth, and follows them with repeated neuropsychological testing, MRI, and PET imaging of amyloid and tau, to study brain changes in normal aging and early Alzheimer's disease pathology."; "BAC", "BACS", "Berkeley Aging Cohort", "Berkeley Aging Cohort study", "Berkeley aging cohort study"; ; rdfs:label "Berkeley Aging Cohort Study"@en . _:261c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10369372/fullTextXML"; rdfs:comment "Berkeley Aging Cohort Study (BACS), a cohort of elderly individuals who had psychometrically normal cognition at baseline, residing in the community in the San Francisco Bay area" . _:261d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841377"; "Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease."; "PMID:37101235", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134547/fullTextXML"; rdfs:comment "These cohorts included Memento [24], Mayo Clinic Study of Aging (MCSA) [25], Wisconsin Registry for Alzheimer's Prevention (WRAP) [26], Berkeley Aging Cohort study (BACS) [27], Korean study [28], and MISSION-AD." . _:261e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of typical cognitive aging at the University of California, Berkeley, and Lawrence Berkeley National Laboratory. It recruits cognitively normal older adults (and some young adults) living in the community in the San Francisco Bay Area through advertisements and word of mouth, and follows them with repeated neuropsychological testing, MRI, and PET imaging of amyloid and tau, to study brain changes in normal aging and early Alzheimer's disease pathology."; "PMID:29527500", "PMID:37502020", "PMID:38334195", "PMID:40441049"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:261f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAC"; . _:26202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BACS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10431; , ; "GCST90013445"; "A repository of DNA samples from British families of European ancestry with at least two siblings affected by type 1 diabetes, and their parents, recruited in the United Kingdom between 1989 and 1996 for the British Diabetic Association (now Diabetes UK) and made publicly available for genetic linkage and association studies of type 1 diabetes."; "BDA", "BDA Warren I", "British Diabetes Association", "British Diabetes Association Warren 1", "British Diabetes Association Warren I", "British Diabetic Association Warren Repository", "British Diabetic Association–Warren repository", "Diabetes UK Warren 1 repository", "Diabetes UK Warren I repository"; ; rdfs:label "Diabetes UK Warren 1 Repository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10431 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10431; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15049939+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1989 and 1996, 505 British families with at least two siblings affected by Type 1 diabetes were recruited." . _:26222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1226067/"; rdfs:comment "Two collections of DNA samples from families with T1D are publicly available for genetic linkage studies, the Diabetes UK Warren 1 repository of samples from the United Kingdom and the HBDI collection of samples largely from the United States." . _:26232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "Additional institutions contributing samples are: British Diabetes Association (BDA), NIHR Cambridge BioResource, UK Blood Service (UKBS), Benaroya Research Institute (BRI), National Institute of Mental Health (NIMH), University of Alabama at Birmingham (UAB), University of Colorado (UC), University of California San Francisco (UCSF), Medical College of Wisconsin (MCW), and Steno Diabetes Center." . _:26242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A repository of DNA samples from British families of European ancestry with at least two siblings affected by type 1 diabetes, and their parents, recruited in the United Kingdom between 1989 and 1996 for the British Diabetic Association (now Diabetes UK) and made publicly available for genetic linkage and association studies of type 1 diabetes."; "PMID:11507694", "PMID:15049939", "PMID:16470599", "PMID:20595243"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10437, _:genid-371333f489424440b12a13b9d98ced822608-genid10439, _:genid-371333f489424440b12a13b9d98ced822608-genid10441, _:genid-371333f489424440b12a13b9d98ced822608-genid10443; , ; "GCST90568440"; "A prospective cohort of children aged 7–10 years in grades 2 to 4 at 39 primary schools in Barcelona, Spain, selected as pairs with high and low traffic-related air pollution, whose working memory and attention were tested four times, every three months, from January 2012 to March 2013, with brain MRI in a subsample, to study the effects of traffic-related air pollution on cognitive and brain development."; 2897; "BDAPUSC", "BREATHE", "BREATHE project", "BREATHE study", "BRain dEvelopment and Air polluTion ultrafine particles in scHool childrEn", "Brain dEvelopment and Air polluTion ultrafine particles in scHool childrEn"; ; rdfs:label "Brain Development and Air Pollution Ultrafine Particles in School Children"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10437 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10439 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10441 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10443 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10437; "elemental carbon"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25734425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a prospective study of children (n = 2,715, aged 7 to 10 y) from 39 schools in Barcelona (Catalonia, Spain) exposed to high and low traffic-related air pollution, paired by school socioeconomic index; children were tested four times (i.e., to assess the 12-mo developmental trajectories) via computerized tests (n = 10,112)." . _:26272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10439; "ultrafine particles"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25734425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a prospective study of children (n = 2,715, aged 7 to 10 y) from 39 schools in Barcelona (Catalonia, Spain) exposed to high and low traffic-related air pollution, paired by school socioeconomic index; children were tested four times (i.e., to assess the 12-mo developmental trajectories) via computerized tests (n = 10,112)." . _:26282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10441; "traffic-related air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25734425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a prospective study of children (n = 2,715, aged 7 to 10 y) from 39 schools in Barcelona (Catalonia, Spain) exposed to high and low traffic-related air pollution, paired by school socioeconomic index; children were tested four times (i.e., to assess the 12-mo developmental trajectories) via computerized tests (n = 10,112)." . _:26292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10443; "nitrogen dioxide"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25734425+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a prospective study of children (n = 2,715, aged 7 to 10 y) from 39 schools in Barcelona (Catalonia, Spain) exposed to high and low traffic-related air pollution, paired by school socioeconomic index; children were tested four times (i.e., to assess the 12-mo developmental trajectories) via computerized tests (n = 10,112)." . _:262a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31539824+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Among the children recruited through a set of representative schools of the city of Barcelona, (Spain) in the Brain Development and Air Pollution Ultrafine Particles in School Children (BREATHE) study, 186 typically developing participants aged 8-12 years underwent brain MRI on the same 1.5 T MR unit over a 1.5-year period (October 2012-April 2014)." . _:262b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "Participants were drawn from the BREATHE project (European Commission: FP7-ERC-2010-AdG, ID" . _:262c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of children aged 7–10 years in grades 2 to 4 at 39 primary schools in Barcelona, Spain, selected as pairs with high and low traffic-related air pollution, whose working memory and attention were tested four times, every three months, from January 2012 to March 2013, with brain MRI in a subsample, to study the effects of traffic-related air pollution on cognitive and brain development."; "PMID:25734425", "PMID:31539824"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:262d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2897; "children whose families agreed to participate (of 5,019 invited), 2012"; "PMID:25734425"; rdfs:comment "All school children (n = 5,019) without special needs in grades 2 through 4 (7–10 y of age) were invited to participate, and families of 2,897 (59%) children agreed." . _:262e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDAPUSC"; . _:262f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BREATHE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10451, _:genid-371333f489424440b12a13b9d98ced822608-genid10453; ; , , , , , , , , , , , , , ; "GCST90274713"; "A consortium of large prospective cohorts in the United States, Europe and Australia, among them ATBC, CPS-II, EPIC, HPFS, the Multiethnic Cohort, NHS, PHS, PLCO and WHS, which pools nested case–control studies of breast and prostate cancer with DNA and prospectively collected questionnaire data, first to relate variation in genes of the steroid-hormone metabolism and insulin-like growth factor pathways to cancer risk, and later for genome-wide association studies of aggressive prostate cancer and oestrogen receptor-negative breast cancer."; 10501; 10831; "BPC3", "Breast and Prostate Cancer Cohort Consortium", "NCI Breast and Prostate Cancer Cohort Consortium", "The National Cancer Institute Breast and Prostate Cancer Cohort Consortium"; ; rdfs:label "National Cancer Institute Breast and Prostate Cancer Cohort Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10451 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10453 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10451; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16341085+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The National Cancer Institute Breast and Prostate Cancer Cohort Consortium--a pooled analysis of multiple large cohort studies with a total of more than 5,000 cases of breast cancer and 8,000 cases of prostate cancer--was therefore initiated." . _:26312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10453; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16341085+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The National Cancer Institute Breast and Prostate Cancer Cohort Consortium--a pooled analysis of multiple large cohort studies with a total of more than 5,000 cases of breast cancer and 8,000 cases of prostate cancer--was therefore initiated." . _:26322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3044744"; rdfs:comment "In addition, the Melbourne Collaborative Cohort Study (MCCS) established in 1990–1994 [42] recently joined the consortium." . _:26332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3921107/fullTextXML"; rdfs:comment "It consists of cases and controls selected from large cohorts assembled in Europe, Australia and the United States that have both biological samples and extensive questionnaire information collected prospectively." . _:26342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01534-4/MediaObjects/41588_2023_1534_MOESM4_ESM.xlsx"; rdfs:comment "Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study Nested case-control, Finland" . _:26352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3044744/fullTextXML"; rdfs:comment "the European Prospective Investigation into Cancer and Nutrition Cohort (EPIC – comprised of cohorts from Denmark, Great Britain, Germany, Greece, Italy, the Netherlands, Spain, and Sweden) in 1993" . _:26362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274713"; "Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants."; "PMID:37945903", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01534-4/MediaObjects/41588_2023_1534_MOESM4_ESM.xlsx"; rdfs:comment "8 study meta analysis (ELLIPSE OncoArray/BPC3/CAPS1/CAPS2/PRACTICAL iCOGS/Pegasus/UK GWAS1/UK GWAS2)" . _:26372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of large prospective cohorts in the United States, Europe and Australia, among them ATBC, CPS-II, EPIC, HPFS, the Multiethnic Cohort, NHS, PHS, PLCO and WHS, which pools nested case–control studies of breast and prostate cancer with DNA and prospectively collected questionnaire data, first to relate variation in genes of the steroid-hormone metabolism and insulin-like growth factor pathways to cancer risk, and later for genome-wide association studies of aggressive prostate cancer and oestrogen receptor-negative breast cancer."; "PMID:16341085", "PMID:18596909", "PMID:21390317", "PMID:23255287", "PMID:24523857"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10501; "prostate cancer cases and controls genotyped in the 2011 pooled BPC3 analysis of 39 GWAS SNPs"; "PMID:21390317"; rdfs:comment "We therefore genotyped 39 SNPs from regions identified by several prostate cancer GWAS in 10,501 prostate cancer cases and 10,831 controls from the NCI Breast and Prostate Cancer Cohort Consortium (BPC3)." . _:26392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10831; "prostate cancer cases and controls genotyped in the 2011 pooled BPC3 analysis of 39 GWAS SNPs"; "PMID:21390317"; rdfs:comment "We therefore genotyped 39 SNPs from regions identified by several prostate cancer GWAS in 10,501 prostate cancer cases and 10,831 controls from the NCI Breast and Prostate Cancer Cohort Consortium (BPC3)." . _:263a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BPC3"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10464; , ; "GCST90472771"; "An ongoing prospective observational study and biobank of people aged 16 or over with moderate-to-severe plaque psoriasis starting systemic or biologic therapy, established in 2011 at the St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, and recruiting at more than 80 dermatology centres across the United Kingdom. It pairs DNA from every participant, and further blood and skin samples from some, with clinical data, captured partly through the British Association of Dermatologists Biologics and Immunomodulators Register, to identify biomarkers of response to psoriasis treatments."; 10000; "BSTOP", "Biomarkers of Systemic Treatment Outcomes in Psoriasis", "Biomarkers of Systemic Treatment Outcomes in Psoriasis study", "UK Biomarkers of Systemic Treatment Outcomes in Psoriasis study"; ; rdfs:label "Biomarkers and Stratification To Optimise outcomes in Psoriasis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10464 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:263b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10464; "psoriasis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12857016/fullTextXML"; rdfs:comment "BSTOP is an ongoing prospective observational study of patients with a primary diagnosis of moderate‒severe plaque psoriasis across > 70 UK dermatology centres, which includes biological sample collection." . _:263c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11871359/supplementaryFiles"; rdfs:comment "Cases: BSTOP study, via UK hospital dermatology centres." . _:263d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90472771"; "GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets."; "PMID:40021644", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11871359/supplementaryFiles"; rdfs:comment "Cases: BSTOP study, via UK hospital dermatology centres." . _:263e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective observational study and biobank of people aged 16 or over with moderate-to-severe plaque psoriasis starting systemic or biologic therapy, established in 2011 at the St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, and recruiting at more than 80 dermatology centres across the United Kingdom. It pairs DNA from every participant, and further blood and skin samples from some, with clinical data, captured partly through the British Association of Dermatologists Biologics and Immunomodulators Register, to identify biomarkers of response to psoriasis treatments."; "PMID:40021644", "PMID:41408349", "https://www.kcl.ac.uk/research/bstop"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:263f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10000; "participants recruited so far (stated as over 10,000)"; "https://www.kcl.ac.uk/research/bstop"; rdfs:comment "BSTOP has so far recruited over 10,000 participants and collected more than 34,000 biological samples." . _:26402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSTOP"; . a owl:NamedIndividual, ; , ; ; "GCST90461957"; "A prospective cohort of Black women in the United States, run by the Slone Epidemiology Center at Boston University, who enrolled in 1995 by returning health questionnaires mailed to subscribers of Essence magazine, members of the Black Nurses' Association, participants in its feasibility studies, and friends and relatives of respondents. The women are followed by repeated mailed questionnaires, with medical record and cancer registry review, to study the causes of illnesses common in Black women, such as breast cancer, hypertension, diabetes, lupus and uterine fibroids."; 59000; "BWHS", "Black Womens Health Study"; ; rdfs:label "Black Women's Health Study"@en . _:26412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11885530/fullTextXML"; rdfs:comment "Black Women’s Health Study (BWHS) is a U.S. prospective cohort study of 59,000 United States Black women who enrolled in the study in 1995 and have been followed by biennial questionnaires since then." . _:26422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90461957"; "Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups."; "PMID:40050615", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11885530/fullTextXML"; rdfs:comment "Black Women’s Health Study (BWHS) is a U.S. prospective cohort study of 59,000 United States Black women who enrolled in the study in 1995 and have been followed by biennial questionnaires since then." . _:26432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of Black women in the United States, run by the Slone Epidemiology Center at Boston University, who enrolled in 1995 by returning health questionnaires mailed to subscribers of Essence magazine, members of the Black Nurses' Association, participants in its feasibility studies, and friends and relatives of respondents. The women are followed by repeated mailed questionnaires, with medical record and cancer registry review, to study the causes of illnesses common in Black women, such as breast cancer, hypertension, diabetes, lupus and uterine fibroids."; "PMID:40050615", "https://www.bu.edu/bwhs/history/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 59000; "Black women enrolled in 1995"; "https://www.bu.edu/bwhs/history/"; rdfs:comment "The BWHS is a “follow-up” study, following the 59,000 women who enrolled in 1995 over time." . _:26452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BWHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10476, _:genid-371333f489424440b12a13b9d98ced822608-genid10478; , ; "GCST90662913"; "A prospective cohort of adults aged 19–56 years without known coronary heart disease, with long-standing type 1 diabetes or without diabetes (controls, mostly spouses, friends and neighbours of those with diabetes), examined from March 2000 to April 2002 at the Barbara Davis Center for Childhood Diabetes and the University of Colorado in Denver, United States, and re-examined about six years later. Coronary artery calcification was measured by electron-beam computed tomography, to study the prevalence and progression of subclinical coronary atherosclerosis in type 1 diabetes."; 652; 764; 1416; "CACTI", "Coronary Artery Calcification in T1D", "Coronary Artery Calcification in Type 1 Diabetes", "The Coronary Artery Calcification in Type 1 Diabetes"; ; rdfs:label "Coronary Artery Calcification in Type 1 Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10476 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10478 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10476; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898750/fullTextXML"; rdfs:comment "CACTI was designed to examine the prevalence of subclinical atherosclerosis in adults with type 1 diabetes and a comparable group of controls without any diabetes." . _:26472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10478; "subclinical atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898750/fullTextXML"; rdfs:comment "CACTI was designed to examine the prevalence of subclinical atherosclerosis in adults with type 1 diabetes and a comparable group of controls without any diabetes." . _:26482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3687315/fullTextXML"; rdfs:comment "The study was performed at the Barbara Davis Center for Childhood Diabetes in Denver, Colorado, and at the Clinical Translational Research Center (CTRC) at the University of Colorado Hospital." . _:26492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90662913"; "Genetics of C-Peptide and Age at Diagnosis in Type 1 Diabetes."; "PMID:39556808", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11755686/fullTextXML"; rdfs:comment "We performed a meta-GWAS of C-peptide that including four T1D studies: the Scottish Diabetes Research Network Type 1 Bioresource (SDRNT1BIO) (4,16), Diabetes Control and Complications Trial (DCCT) (17,18), Coronary Artery Calcification in T1D (CACTI) (19,20), and Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR) (21)." . _:264a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of adults aged 19–56 years without known coronary heart disease, with long-standing type 1 diabetes or without diabetes (controls, mostly spouses, friends and neighbours of those with diabetes), examined from March 2000 to April 2002 at the Barbara Davis Center for Childhood Diabetes and the University of Colorado in Denver, United States, and re-examined about six years later. Coronary artery calcification was measured by electron-beam computed tomography, to study the prevalence and progression of subclinical coronary atherosclerosis in type 1 diabetes."; "PMID:14578303", "PMID:23340891", "PMID:24130360", "PMID:30943964"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:264b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 652; "adults enrolled at baseline (652 with type 1 diabetes, 764 non-diabetic controls), 2000-2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6448314/fullTextXML"; rdfs:comment "The study enrolled 1416 individuals between 19 and 56 years of age, with no known history of CHD: 652 subjects with type 1 diabetes and 764 nondiabetic control subjects." . _:264c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 764; "adults enrolled at baseline (652 with type 1 diabetes, 764 non-diabetic controls), 2000-2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6448314/fullTextXML"; rdfs:comment "The study enrolled 1416 individuals between 19 and 56 years of age, with no known history of CHD: 652 subjects with type 1 diabetes and 764 nondiabetic control subjects." . _:264d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1416; "adults enrolled at baseline (652 with type 1 diabetes, 764 non-diabetic controls), 2000-2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6448314/fullTextXML"; rdfs:comment "The study enrolled 1416 individuals between 19 and 56 years of age, with no known history of CHD: 652 subjects with type 1 diabetes and 764 nondiabetic control subjects." . _:264e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CACTI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10487; , ; ; "GCST90472771", "PGS005307"; "A case–control collection of people of white European ancestry, with psoriasis diagnosed by dermatologists and controls without psoriasis, that pooled the long-standing psoriasis genetics collections of three United States groups, at the University of Michigan, the University of Utah and Washington University in St. Louis. It was genotyped genome-wide on the Perlegen platform through the Genetic Association Information Network (GAIN) to identify psoriasis susceptibility loci."; 1409; 1436; 2875; "CASP", "Collaborative Association Study of psoriasis", "PSGDS"; , ; rdfs:label "Collaborative Association Study of Psoriasis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10487 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:264f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10487; "psoriasis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19169254+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify psoriasis susceptibility loci, we genotyped 438,670 SNPs in 1,409 psoriasis cases and 1,436 controls of European ancestry." . _:26502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.311/MediaObjects/41588_2009_BFng311_MOESM30_ESM.pdf"; rdfs:comment "Additional selection criteria for Michigan cases included a requirement of at least two psoriatic plaques or a single plaque occupying >1% of total body surface area outside scalp." . _:26512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90472771"; "GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets."; "PMID:40021644", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11871359/fullTextXML"; rdfs:comment "Individual level genotype data for the CASP GWAS, PsA GWAS, and Exomechip case-control studies are available on dbGaP (dbGaP: phs000019.v1.p1, phs000982.v1.p1, and phs001306.v1.p1, and WTCCC2 genotype data are archived at the European Genome-Phenome Archive (study ID EGAS00000000108)." . _:26522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005307"; "Genetic liability to psoriasis predicts severe disease outcomes."; "PMID:41408349" . _:26532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control collection of people of white European ancestry, with psoriasis diagnosed by dermatologists and controls without psoriasis, that pooled the long-standing psoriasis genetics collections of three United States groups, at the University of Michigan, the University of Utah and Washington University in St. Louis. It was genotyped genome-wide on the Perlegen platform through the Genetic Association Information Network (GAIN) to identify psoriasis susceptibility loci."; "PMID:19169254", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000019.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1409; "consented subjects in the dbGaP release (cases, controls and others)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000019.v1.p1"; rdfs:comment "Total number of consented subjects: 2875" . _:26552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1436; "consented subjects in the dbGaP release (cases, controls and others)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000019.v1.p1"; rdfs:comment "Total number of consented subjects: 2875" . _:26562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2875; "consented subjects in the dbGaP release (cases, controls and others)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000019.v1.p1"; rdfs:comment "Total number of consented subjects: 2875" . _:26572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CASP"; . _:26582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSGDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10498; , , , , ; "GCST90274713"; "A case–control study of prostate cancer in men of African ancestry, genotyped on the Illumina H3Africa array. It combines African American cases from Los Angeles, California, identified through the SEER cancer registry, and cancer-free controls from the African American Eye Disease Study in Inglewood, California, with incident cases and controls from other clinics at Mulago Hospital in Kampala, Uganda."; 1586; 1086; "CA UG", "CA UG Study", "CAUG", "California Uganda Study"; ; rdfs:label "California and Uganda Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10498 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10498; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8148035/fullTextXML"; rdfs:comment "For men of African ancestry, GRS replication was conducted among 1,586 cases and 1,086 controls from California and Uganda (CA UG Study) genotyped with the Illumina H3 Africa array and imputed using Phase 3 of the 1000 Genomes Project15 as the reference panel and Minimac4 on the Michigan Imputation Server27 (Supplementary Table 1 and 2)." . _:265a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01534-4/MediaObjects/41588_2023_1534_MOESM4_ESM.xlsx"; rdfs:comment "Cases from Los Angeles, CA through SEER registry and Incident cases from Mulago Hospital in Kampala, Uganda" . _:265b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274713"; "Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants."; "PMID:37945903", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10841479/unicode"; rdfs:comment "The present study included an additional 49,072 cases and 661,437 controls from the UK Biobank, the FinnGen study, the Electronic Medical Records and Genomics (eMERGE) Network, the BioVU Biobank, the BioMe Biobank, the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO), the MD Anderson prostate cancer study (MD Anderson), the California and Uganda Prostate Cancer Study (CA UG), the VA Million Veteran Program (MVP), and the Maryland Prostate Cancer Case-Control Study (NCI-MD) (Supplementary Table 1)." . _:265c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of prostate cancer in men of African ancestry, genotyped on the Illumina H3Africa array. It combines African American cases from Los Angeles, California, identified through the SEER cancer registry, and cancer-free controls from the African American Eye Disease Study in Inglewood, California, with incident cases and controls from other clinics at Mulago Hospital in Kampala, Uganda."; "PMID:29580111", "PMID:33398198", "PMID:37945903"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:265d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1586; "cases and controls genotyped on the H3Africa array (analysed set); no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8148035/fullTextXML"; rdfs:comment "For men of African ancestry, GRS replication was conducted among 1,586 cases and 1,086 controls from California and Uganda (CA UG Study) genotyped with the Illumina H3 Africa array and imputed using Phase 3 of the 1000 Genomes Project15 as the reference panel and Minimac4 on the Michigan Imputation Server27 (Supplementary Table 1 and 2)." . _:265e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1086; "cases and controls genotyped on the H3Africa array (analysed set); no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8148035/fullTextXML"; rdfs:comment "For men of African ancestry, GRS replication was conducted among 1,586 cases and 1,086 controls from California and Uganda (CA UG Study) genotyped with the Illumina H3 Africa array and imputed using Phase 3 of the 1000 Genomes Project15 as the reference panel and Minimac4 on the Michigan Imputation Server27 (Supplementary Table 1 and 2)." . _:265f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CA UG"; . _:26602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CA UG Study"; . _:26612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAUG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10508; , , ; "GCST90129578"; "A prospective birth cohort of children enrolled within a week of birth between June 2014 and March 2016 in Mirpur, an urban neighbourhood of Dhaka, and Mirzapur, a rural subdistrict north-west of Dhaka, Bangladesh, whose mothers were identified in the second trimester of pregnancy. The children were followed with twice-weekly home visits for diarrhoea, monthly stool samples and three-monthly growth measurements, to study the incidence of cryptosporidiosis, the immune response to it, host genetic susceptibility and its effect on child growth."; "CBC", "Cryptosporidiosis Birth Cohort", "Cryptosporidiosis and Enteropathogens in Bangladesh"; ; rdfs:label "Cryptosporidiosis and Enteropathogens in Bangladesh Birth Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10508 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10508; "cryptosporidiosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29897482+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cryptosporidiosis is a major cause of childhood diarrhea in low- and middle-income countries and has been linked to impairment of child growth. This study investigated the burden of cryptosporidiosis and its impact on child growth in both a rural and an urban site in Bangladesh." . _:26632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10960603/fullTextXML"; rdfs:comment "To identify host genetic risk factors associated with astrovirus disease susceptibility that may explain disease mechanism and vaccine targets, we performed genome-wide association studies in children enrolled in 2 birth cohorts, the Performance of Rotavirus and Oral Polio Vaccines in Developing Countries (PROVIDE) study and the Cryptosporidiosis and Enteropathogens in Bangladesh Birth Cohort (CBC) study in Dhaka, Bangladesh [15, 16]." . _:26642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129578"; "Genome-Wide Association Study of Campylobacter-Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response."; "PMID:35420468", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9239263/fullTextXML"; rdfs:comment "Here, we aimed to identify genetic variants associated with host susceptibility to Campylobacter infection using two well-characterized birth cohorts: the Performance of Rotavirus and Oral Polio Vaccines in Developing Countries (PROVIDE) Study (19) and the Cryptosporidiosis Birth Cohort (CBC) (20)." . _:26652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of children enrolled within a week of birth between June 2014 and March 2016 in Mirpur, an urban neighbourhood of Dhaka, and Mirzapur, a rural subdistrict north-west of Dhaka, Bangladesh, whose mothers were identified in the second trimester of pregnancy. The children were followed with twice-weekly home visits for diarrhoea, monthly stool samples and three-monthly growth measurements, to study the incidence of cryptosporidiosis, the immune response to it, host genetic susceptibility and its effect on child growth."; "PMID:29897482", "PMID:32019797", "PMID:40488529"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10514; , , ; "GCST90267154"; "A multi-institutional retrospective cohort, with longitudinal follow-up, of five-year survivors of the most common childhood cancers diagnosed before age 21 at participating paediatric centres in the United States and Canada, with a comparison cohort of their siblings. It was funded by the US National Cancer Institute in 1994 for survivors diagnosed in 1970-1986 and later expanded to those diagnosed in 1987-1999, as a resource for research on the long-term effects of childhood cancer and its treatment."; 38000; "CCSS"; ; rdfs:label "Childhood Cancer Survivor Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10514 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10514; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19364948+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 1994, the US National Cancer Institute funded the Childhood Cancer Survivor Study, a multi-institutional research initiative designed to establish a large and extensively characterized cohort of more than 14,000 5-year survivors of childhood and adolescent cancer diagnosed between 1970 and 1986." . _:26682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7190022/fullTextXML"; rdfs:comment "The Childhood Cancer Survivor Study is a multi-institutional retrospective cohort study with longitudinal follow-up of five year survivors of the most common childhood cancers (leukemia, central nervous system tumors, Hodgkin lymphoma, non-Hodgkin lymphoma, renal tumors, neuroblastoma, soft tissue sarcomas, and bone sarcomas) diagnosed before age 21 years at one of 27 participating institutions in the United States and Canada." . _:26692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267154"; "Genome-Wide Association Study Identifies ROBO2 as a Novel Susceptibility Gene for Anthracycline-Related Cardiomyopathy in Childhood Cancer Survivors."; "PMID:36508697", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36508697+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We addressed this gap using the Childhood Cancer Survivor Study (discovery) and the Children's Oncology Group (COG) study COG-ALTE03N1 (replication)." . _:266a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-institutional retrospective cohort, with longitudinal follow-up, of five-year survivors of the most common childhood cancers diagnosed before age 21 at participating paediatric centres in the United States and Canada, with a comparison cohort of their siblings. It was funded by the US National Cancer Institute in 1994 for survivors diagnosed in 1970-1986 and later expanded to those diagnosed in 1987-1999, as a resource for research on the long-term effects of childhood cancer and its treatment."; "PMID:19364948", "PMID:31941657"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:266b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 38000; "five-year survivors diagnosed 1970-1999 (stated as 38K+; siblings not included)"; "https://ccss.stjude.org/about-the-study.html"; rdfs:comment "38K+ survivors diagnosed 1970-1999" . _:266c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10521; , , , , , , , , , , , , , , , , , , , ; "GCST90104613"; "A prospective, multicentre, longitudinal observational cohort of patients with traumatic brain injury who presented to hospital within 24 hours of injury with an indication for CT, recruited between December 2014 and December 2017 at centres in 18 countries across Europe and in Israel. Funded by the European Union's Seventh Framework Programme, it comprises a core study, with neuroimaging, biospecimens and outcome assessment, and a broader registry, and aims to improve the characterisation and classification of TBI and to identify best clinical care through comparative effectiveness research."; 4509; "CENTER-TBI", "Collaborative European NeuroTrauma Effectiveness Research", "Collaborative European NeuroTrauma Effectiveness Research in TBI", "Collaborative European Neurotrauma Effectiveness Research in TBI", "Collaborative European Neurotrauma Effectiveness Research in Traumatic Brain Injury"; ; rdfs:label "Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10521 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:266d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10521; "traumatic brain injury"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25525693+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This multicenter, longitudinal, prospective, observational study in 22 countries across Europe and Israel will collect detailed data from 5400 consenting patients, presenting within 24 hours of injury, with a clinical diagnosis of TBI and an indication for computed tomography." . _:266e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8486724/fullTextXML"; rdfs:comment "The Collaborative European NeuroTrauma Effectiveness Research in TBI (CENTER-TBI, registered at clinicaltrials.gov NCT02210221) study is a prospective cohort study conducted in 63 centers from 18 countries across Europe and Israel between December 2014 and December 2017." . _:266f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8486724/fullTextXML"; rdfs:comment "We grouped countries into seven regions: Baltic States (Latvia, and Lithuania), Eastern Europe (Hungary, Romania, and Serbia), Israel, Northern Europe (Denmark, Finland, Norway, and Sweden), Southern Europe (Italy, and Spain), the United Kingdom, and Western Europe (Austria, Belgium, France, Germany, the Netherlands)." . _:26702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104613"; "A genome-wide association study of outcome from traumatic brain injury."; "PMID:35301180", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8927841/supplementaryFiles"; rdfs:comment "The CENTER-TBI study recruited patients who presented with a history of TBI and met local guidelines for CT imaging." . _:26712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre, longitudinal observational cohort of patients with traumatic brain injury who presented to hospital within 24 hours of injury with an indication for CT, recruited between December 2014 and December 2017 at centres in 18 countries across Europe and in Israel. Funded by the European Union's Seventh Framework Programme, it comprises a core study, with neuroimaging, biospecimens and outcome assessment, and a broader registry, and aims to improve the characterisation and classification of TBI and to identify best clinical care through comparative effectiveness research."; "PMID:25525693", "PMID:31526754", "PMID:34351445"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4509; "patients in the core study (analysed); registry counted separately (2014-2017)"; "PMID:31526754"; rdfs:comment "The core study was registered with ClinicalTrials.gov, number NCT02210221, and with Resource Identification Portal (RRID: SCR_015582).FindingsData from 4509 patients from 18 countries, collected between Dec 9, 2014, and Dec 17, 2017, were analysed in the core study and from 22 782 patients in the registry." . _:26732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CENTER-TBI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10529, _:genid-371333f489424440b12a13b9d98ced822608-genid10531; "GCST90558259"; "A Johns Hopkins University study that enrolled people with cystic fibrosis both with and without cystic fibrosis-related diabetes; its participants are among those whose genomes were sequenced by the Cystic Fibrosis Genome Project."; "CF-Related Diabetes Study", "CF-related Diabetes Study", "CFRD"; ; rdfs:label "Cystic Fibrosis-Related Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10529 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10531 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10529; "cystic fibrosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University)" . _:26752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10531; "cystic fibrosis-related diabetes"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University)" . _:26762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558259"; "Genetic modifiers of body mass index in individuals with cystic fibrosis."; "PMID:39260370", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University), Genetic Modifier Study (GMS)17,18,19 and GMS of Severe CF Liver Disease (GMS CFLD)20,21 (University of North Carolina), and Early Pseudomonas Infection Control Observational (EPIC Obs) Study22 (University of Washington and Seattle Children’s Hospital)." . _:26772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Johns Hopkins University study that enrolled people with cystic fibrosis both with and without cystic fibrosis-related diabetes; its participants are among those whose genomes were sequenced by the Cystic Fibrosis Genome Project."; "PMID:35647563", "PMID:36206743", "PMID:38536042"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFRD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10536; , , , , , , , ; "GCST90558259"; "A family-based cohort of living twins, triplets and siblings who all have cystic fibrosis, and their parents, recruited from 2000 by Johns Hopkins University through CF care centres mostly in the United States and also in Australia, Israel and Scotland, to assess genetic and environmental modifiers of clinical outcomes in CF."; "The acronym TSS also denotes Trinity Student Study (COHO:0000627); this term is US Cystic Fibrosis Twin and Sibling Study."@en; 1038; "CF Twin and Sibling Study", "CF Twin-Sibling Study", "CFTSS", "CF_TSS", "Cystic Fibrosis Twin and Sibling Study", "Cystic Fibrosis Twin-Sibling Study", "JHU", "TSS", "U.S. CF Twin and Sibling Study"; ; rdfs:label "US Cystic Fibrosis Twin and Sibling Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10536 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10536; "cystic fibrosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4195986/fullTextXML"; rdfs:comment "All subjects were part of the CF Twin-Sibling Study (n = 1038 individuals in 575 families) and were recruited from CF centers in the United States (n = 952), Australia (n = 48), Israel (n = 24), and United Kingdom (Scotland)(n = 14) between 2000 and 2013 on the basis of having CF and having a twin or sibling with CF." . _:267a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4195986/fullTextXML"; rdfs:comment "All subjects were part of the CF Twin-Sibling Study (n = 1038 individuals in 575 families) and were recruited from CF centers in the United States (n = 952), Australia (n = 48), Israel (n = 24), and United Kingdom (Scotland)(n = 14) between 2000 and 2013 on the basis of having CF and having a twin or sibling with CF." . _:267b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558259"; "Genetic modifiers of body mass index in individuals with cystic fibrosis."; "PMID:39260370", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University), Genetic Modifier Study (GMS)17,18,19 and GMS of Severe CF Liver Disease (GMS CFLD)20,21 (University of North Carolina), and Early Pseudomonas Infection Control Observational (EPIC Obs) Study22 (University of Washington and Seattle Children’s Hospital)." . _:267c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based cohort of living twins, triplets and siblings who all have cystic fibrosis, and their parents, recruited from 2000 by Johns Hopkins University through CF care centres mostly in the United States and also in Australia, Israel and Scotland, to assess genetic and environmental modifiers of clinical outcomes in CF."; "PMID:23670970", "PMID:25287419", "PMID:31697830", "PMID:36206743"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:267d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1038; "individuals with CF (twins and siblings) recruited 2000-2013; parents not counted"; "PMID:25287419"; rdfs:comment "All subjects were part of the CF Twin-Sibling Study (n = 1038 individuals in 575 families) and were recruited from CF centers in the United States (n = 952), Australia (n = 48), Israel (n = 24), and United Kingdom (Scotland)(n = 14) between 2000 and 2013 on the basis of having CF and having a twin or sibling with CF." . _:267e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CFTSS"; . _:267f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CF_TSS"; . _:26802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JHU"; . _:26812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10546; , ; "GCST90446233"; "A population-based longitudinal cohort of Black and White adults aged 65 and over living in four adjacent neighbourhoods on the south side of Chicago, Illinois, recruited through a door-to-door census from 1993, with later age groups entered as residents turned 65. Participants were followed until 2012 with in-home interviews every three years and clinical evaluation of stratified random samples, to study common chronic conditions of late life, especially risk factors for Alzheimer's disease."; 10802; "CHAP"; ; rdfs:label "Chicago Health and Aging Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10546 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10546; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14646025+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CHAP is a longitudinal population study of common chronic health problems of older persons, especially of risk factors for incident Alzheimer's disease, in a biracial neighborhood of the south side of Chicago." . _:26832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42583594+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We set our study in the Chicago Health and Aging Project, a longitudinal cohort of community-dwelling older adults from four Chicago, Illinois, neighborhoods, followed from 1993 to 2012." . _:26842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446233"; "Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry."; "PMID:38958117", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11350055/fullTextXML"; rdfs:comment "When not available, other information was used instead, such as age at diagnosis (Chicago Health and Aging Project [CHAP], Minority Aging Research Study/Clinical Minority Core [MARS/CORE]) or age at ascertainment (Indiana University)." . _:26852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of Black and White adults aged 65 and over living in four adjacent neighbourhoods on the south side of Chicago, Illinois, recruited through a door-to-door census from 1993, with later age groups entered as residents turned 65. Participants were followed until 2012 with in-home interviews every three years and clinical evaluation of stratified random samples, to study common chronic conditions of late life, especially risk factors for Alzheimer's disease."; "PMID:14646025", "PMID:39641998", "PMID:40575494"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10802; "participants enrolled 1993-2012 (initial cohort plus successive age-eligible cohorts)"; "PMID:39641998"; rdfs:comment "An additional 4,644 participants who later became age-eligible were recruited in successive cohorts, leading to a total study population of 10,802 participants by 2012." . _:26872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHAP"; . a owl:NamedIndividual, ; , ; ; "GCST90568440"; "A population-based longitudinal birth cohort of the children born in the Christchurch urban region of New Zealand during a four-month period from April to August 1977, studied by the University of Otago, Christchurch, at birth, 4 months, 1 year, annually to age 16 and at intervals into adulthood (to age 40), on their health, development, social circumstances and wellbeing across the life course."; 1265; "CHDS"; ; rdfs:label "Christchurch Health and Development Study"@en . _:26882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41321066+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Study members from the Christchurch Health and Development Study, a population-based New Zealand birth cohort study (N = 1265 at birth) were followed to age 40 years." . _:26892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "Christchurch Health and Development Study, a longitudinal study of the life course development of a" . _:268a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal birth cohort of the children born in the Christchurch urban region of New Zealand during a four-month period from April to August 1977, studied by the University of Otago, Christchurch, at birth, 4 months, 1 year, annually to age 16 and at intervals into adulthood (to age 40), on their health, development, social circumstances and wellbeing across the life course."; "PMID:33096046", "PMID:40212739", "PMID:41321066"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:268b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1265; "children enrolled at birth in 1977"; "https://doi.org/10.1192/bjp.2025.10475"; rdfs:comment "The Christchurch Health and Development Study (CHDS) is a longitudinal cohort study that enrolled at birth 1265 people born in Christchurch, New Zealand in 1977." . _:268c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10558; , , ; ; "GCST90281037", "PGS000777"; "A randomised, multicentre, double-blind, placebo-controlled phase III trial population of adults with early, treated Parkinson's disease (within five years of diagnosis and receiving dopaminergic therapy). Participants were enrolled at 45 sites in the United States and Canada from March 2007 to May 2010 by the NINDS Exploratory Trials in Parkinson's Disease (NET-PD) network, to test whether creatine slows long-term clinical decline, and were followed until September 2013. DNA from the participants who consented to banking is held in the Coriell Institute for Medical Research biorepository."; 1741; "CORIELL", "LS-1", "Long-term Study 1", "Long-term Study-1", "NET-PD", "NET-PD LS-1", "NET-PD LS1", "NET-PD Long term Study-1", "NINDS Exploratory Trials in PD Long-Term Study 1", "NINDS Exploratory Trials in PD Long-term Study-1", "National Institute of Neurological Disorders and Stroke Exploratory Trials in Parkinson Disease Long-Term Study-1", "Neuroprotection Exploratory Trials in Parkinson's disease"; , ; rdfs:label "National Institute of Neurological Disorders and Stroke Exploratory Trials in Parkinson's Disease Long-Term Study-1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10558 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:268d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10558; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23079770+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 1,741 PD participants from 45 sites in the United States and Canada were randomized 1:1 to either 10 g of creatine/day or matching placebo." . _:268e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4259292/fullTextXML"; rdfs:comment "The LS-1 study enrolled 1,741 participants from 45 sites in the United States and Canada between March 13, 2007 and May 28, 2010." . _:268f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281037"; "Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia."; "PMID:39132902", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11490412/"; rdfs:comment "CORIELL: NINDS Exploratory Trials in PD Long-Term Study 1 (NET-PD LS1), Coriell Institute for Medical Research, USA" . _:26902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:26912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, multicentre, double-blind, placebo-controlled phase III trial population of adults with early, treated Parkinson's disease (within five years of diagnosis and receiving dopaminergic therapy). Participants were enrolled at 45 sites in the United States and Canada from March 2007 to May 2010 by the NINDS Exploratory Trials in Parkinson's Disease (NET-PD) network, to test whether creatine slows long-term clinical decline, and were followed until September 2013. DNA from the participants who consented to banking is held in the Coriell Institute for Medical Research biorepository."; "PMID:23079770", "PMID:25486269", "PMID:25668262", "PMID:33215284"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1741; "participants randomised 2007-2010 (874 creatine, 867 placebo)"; "PMID:23079770"; rdfs:comment "A total of 1,741 PD participants from 45 sites in the United States and Canada were randomized 1:1 to either 10 g of creatine/day or matching placebo." . _:26932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORIELL"; . _:26942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LS-1"; . _:26952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NET-PD"; . _:26962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NET-PD LS-1"; . _:26972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NET-PD LS1"; . a owl:NamedIndividual, ; , ; "GCST90568440"; "A longitudinal study of the health and behaviour of a complete birth cohort: children born at Queen Mary Maternity Hospital, Dunedin, New Zealand, between April 1972 and March 1973 and still living in the greater Dunedin area at age 3. They were assessed in day-long multidisciplinary phases from age 3 through childhood and adolescence into midlife, by the Dunedin Multidisciplinary Health and Development Research Unit of the University of Otago."; 1037; "DMHDS", "Dunedin Longitudinal Study", "Dunedin Multidisciplinary Child Development Study", "Dunedin Study"; ; rdfs:label "Dunedin Multidisciplinary Health and Development Study"@en . _:26982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42101744+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were members of the Dunedin Multidisciplinary Health and Development Study, a longitudinal study of 1037 people born in New Zealand in 1972-1973." . _:26992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "Participants were members of the Dunedin Multidisciplinary Health and Development Study, a" . _:269a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of the health and behaviour of a complete birth cohort: children born at Queen Mary Maternity Hospital, Dunedin, New Zealand, between April 1972 and March 1973 and still living in the greater Dunedin area at age 3. They were assessed in day-long multidisciplinary phases from age 3 through childhood and adolescence into midlife, by the Dunedin Multidisciplinary Health and Development Research Unit of the University of Otago."; "PMID:25835958", "PMID:42101744"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:269b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1037; "study members enrolled (children assessed at age 3, born 1972-1973), 1975-1976"; "PMID:42101744"; rdfs:comment "Participants were members of the Dunedin Multidisciplinary Health and Development Study, a longitudinal study of 1037 people born in New Zealand in 1972-1973." . _:269c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DMHDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10575, _:genid-371333f489424440b12a13b9d98ced822608-genid10577, _:genid-371333f489424440b12a13b9d98ced822608-genid10579; , , , , , , , , , , , , , , , , , , , ; "GCST90244787"; "A multicentre, population-based cohort of adults aged 20 to 44 years who were selected at random from population registers in 1990-1994 in centres mainly in Western Europe, and also in Australia, New Zealand, the United States and elsewhere, and surveyed with a standardised protocol (a screening questionnaire, then a clinical examination of a random subsample and of those reporting asthma symptoms) to compare the prevalence of asthma and allergic disease, their risk factors and their treatment across countries. Those examined were followed up in ECRHS II (1998-2002), ECRHS III (2008-2014) and ECRHS IV (from 2021) to study the incidence and prognosis of asthma and allergy, lung function decline and COPD."; 140000; "ECRHS"; ; rdfs:label "European Community Respiratory Health Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10577 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10579 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:269d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10575; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28974648+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Community Respiratory Health Survey collected information on prevalent asthma-like symptoms from representative samples of adults aged 20-44 years (29 centres in 13 European countries and Australia) at baseline and 10 and 20 years later (n=7844)." . _:269e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10577; "COPD"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28974648+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Community Respiratory Health Survey collected information on prevalent asthma-like symptoms from representative samples of adults aged 20-44 years (29 centres in 13 European countries and Australia) at baseline and 10 and 20 years later (n=7844)." . _:269f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10579; "allergic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28974648+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The European Community Respiratory Health Survey collected information on prevalent asthma-like symptoms from representative samples of adults aged 20-44 years (29 centres in 13 European countries and Australia) at baseline and 10 and 20 years later (n=7844)." . _:26a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6355980/fullTextXML"; rdfs:comment "This investigation included 24 centres from 11 countries: Iceland (Reykjavik), Norway (Bergen), Sweden (Gothenburg, Umeå and Uppsala), Estonia (Tartu), Germany (Erfurt and Hamburg), UK (Ipswich and Norwich), Belgium (Antwerp), France (Bordeaux, Grenoble, Montpellier and Paris), Spain (Albacete, Barcelona, Galdakao, Huelva and Oviedo), Italy (Pavia, Torino and Verona) and Australia (Melbourne)." . _:26a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ecrhs.org/ecrhs-iv"; rdfs:comment "Until now (December 2025) data for ECRHS IV has been collected in 7 countries with clinical investigations (Denmark, Norway, Estonia, Sweden, Iceland, Spain, Australia) and one country with questionnaire data only (United kingdom)." . _:26a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5738606/fullTextXML"; rdfs:comment "No estimate for Melbourne, Australia or Basel, Switzerland, as information on asthma medication use was not recorded during postal survey." . _:26a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC119432"; rdfs:comment "We gathered data from the 30 centres within regions: United Kingdom and Republic of Ireland), northern Europe (Iceland, Norway, Sweden), central Europe (Belgium, France, the Netherlands), southern Europe (Italy and Spain), Australia and New Zealand, and United States (Portland was the only area in the United States)." . _:26a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244787"; "European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation."; "PMID:37794016", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41180-2/MediaObjects/41467_2023_41180_MOESM1_ESM.pdf"; rdfs:comment "Participants within the ECRHS were eligible for inclusion in this analysis if they were identified by random sampling of those who fulfilled the following criteria: 1) lived in centers that took part in genome-wide genotyping initiative under the auspices of GABRIEL7 AND 2) were initially selected to take part in the ECRHS clinical measurements as part of the random sample (i.e. not specifically selected for inclusion because of any pre-existing disease)." . _:26a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, population-based cohort of adults aged 20 to 44 years who were selected at random from population registers in 1990-1994 in centres mainly in Western Europe, and also in Australia, New Zealand, the United States and elsewhere, and surveyed with a standardised protocol (a screening questionnaire, then a clinical examination of a random subsample and of those reporting asthma symptoms) to compare the prevalence of asthma and allergic disease, their risk factors and their treatment across countries. Those examined were followed up in ECRHS II (1998-2002), ECRHS III (2008-2014) and ECRHS IV (from 2021) to study the incidence and prognosis of asthma and allergy, lung function decline and COPD."; "PMID:28974648", "PMID:30723731", "PMID:30764884", "https://www.ecrhs.org/ecrhs-i", "https://www.ecrhs.org/ecrhs-ii", "https://www.ecrhs.org/ecrhs-iii", "https://www.ecrhs.org/ecrhs-iv"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 140000; "individuals in the ECRHS I database (stage 1 screening questionnaire, 1990-1994), approximate"; "https://www.ecrhs.org/ecrhs-i"; rdfs:comment "Young adults aged between 20 and 44 years were selected at random from available population based registers to take part in the survey - the database of ECRHS I contains information from around 140,000 individuals." . _:26a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECRHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10589, _:genid-371333f489424440b12a13b9d98ced822608-genid10591, _:genid-371333f489424440b12a13b9d98ced822608-genid10593, _:genid-371333f489424440b12a13b9d98ced822608-genid10595, _:genid-371333f489424440b12a13b9d98ced822608-genid10597, _:genid-371333f489424440b12a13b9d98ced822608-genid10599; , ; "GCST90267392"; "A University of Pittsburgh biorepository, funded by the National Cancer Institute in 2001 as an Early Detection Research Network resource, of clinically annotated biospecimens and data from adults with, or suspected of having, digestive diseases who were managed in University of Pittsburgh Medical Center hospitals for colorectal cancer screening or for gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases or pancreatic and colorectal cancers. Patients followed from 1990 to 2000 were gathered retrospectively and new patients have been enrolled prospectively since 2001 and followed continuously, to support translational research."; 2405; "Colorectal and Pancreatic Neoplasm Virtual Biorepository", "EDRN", "Early Detection Research Network Colorectal and Pancreatic Neoplasm Virtual Biorepository"; ; rdfs:label "EDRN Colorectal and Pancreatic Neoplasm Virtual Biorepository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10591 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10593 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10595 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10597 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10599 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10589; "pancreatic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10591; "gastrointestinal malignancies"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10593; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10595; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10597; "pancreatic cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10599; "premalignant conditions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2956178/fullTextXML"; rdfs:comment "The main objective of this initiative was to gather dispersed biospecimens and data pertaining to patients who have been regularly managed and followed-up from 1990 to 2000 either for regular colorectal cancer screening or gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases and pancreatic and colorectal cancers at different centers in the University of Pittsburgh Medical Center (UPMC) hospital networks." . _:26af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267392"; "Genome-wide Interaction Study with Smoking for Colorectal Cancer Risk Identifies Novel Genetic Loci Related to Tumor Suppression, Inflammation, and Immune Response."; "PMID:36576985", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9992283/"; rdfs:comment "EDRN: This work and all authors were funded and supported by the NCI, EDRN Grant (U01 CA 84968-06). We acknowledge all contributors to the development of the resource at University of Pittsburgh School of Medicine, Department of Gastroenterology, Department of Pathology, Hepatology and Nutrition and Biomedical Informatics." . _:26b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A University of Pittsburgh biorepository, funded by the National Cancer Institute in 2001 as an Early Detection Research Network resource, of clinically annotated biospecimens and data from adults with, or suspected of having, digestive diseases who were managed in University of Pittsburgh Medical Center hospitals for colorectal cancer screening or for gastrointestinal malignancies, premalignant conditions, inflammatory bowel disease, pancreatic diseases or pancreatic and colorectal cancers. Patients followed from 1990 to 2000 were gathered retrospectively and new patients have been enrolled prospectively since 2001 and followed continuously, to support translational research."; "PMID:21031013"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2405; "cases (patients) held in the biorepository database as of 2010"; "PMID:21031013"; rdfs:comment "At present, the database holds 2,405 cases and 2,068 tumor accessions." . _:26b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDRN"; . a owl:NamedIndividual, ; , ; "GCST90271557"; "A population-based study of the residents of the town of Leutkirch in Baden-Württemberg, south-western Germany, designed by the State Health Department of Baden-Württemberg and the University of Ulm, for which inhabitants aged 10 to 65 years were selected at random from the municipal population register and examined in November and December 2002 (EMIL-I) with a questionnaire, anthropometry, abdominal ultrasound and blood sampling. Its original aim, the prevalence of infection with the fox tapeworm Echinococcus multilocularis, was extended to internal diseases and public health, and a subsample was re-examined in 2013 (EMIL-II)."; 2445; "EMIL", "EMIL study", "EMIL-Cohort", "EMIL-Study", "Echinococcus multilocularis in Leutkirch study", "Ulm-EMIL"; ; rdfs:label "Echinococcus Multilocularis and Internal Diseases in Leutkirch"@en . _:26b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1586017/fullTextXML"; rdfs:comment "We conducted a population-based, cross-sectional health survey in the city of Leutkirch in southwestern Germany." . _:26b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271557"; "GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification."; "PMID:37679419", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01462-3/MediaObjects/41588_2023_1462_MOESM1_ESM.pdf"; rdfs:comment "EMIL-Cohort, a population-based cohort; the study was approved by the ethical committee of the Chamber of Physicians Baden-Württemberg in the year 2002 (Registration Number 133-02; dates 05.09.2002 and 24.09.2002)." . _:26b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of the residents of the town of Leutkirch in Baden-Württemberg, south-western Germany, designed by the State Health Department of Baden-Württemberg and the University of Ulm, for which inhabitants aged 10 to 65 years were selected at random from the municipal population register and examined in November and December 2002 (EMIL-I) with a questionnaire, anthropometry, abdominal ultrasound and blood sampling. Its original aim, the prevalence of infection with the fox tapeworm Echinococcus multilocularis, was extended to internal diseases and public health, and a subsample was re-examined in 2013 (EMIL-II)."; "PMID:16981990", "PMID:30885181"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2445; "residents aged 10-65 who took part in EMIL-I (2002)"; "PMID:16981990"; rdfs:comment "A total of 2,445 persons aged 10–65 years participated in the study leading to a sample with a participation rate of 62.8%." . _:26b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMIL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10611, _:genid-371333f489424440b12a13b9d98ced822608-genid10613; , ; "GCST90558259"; "A prospective, multicentre observational cohort of children with cystic fibrosis aged 12 years or younger who were free of Pseudomonas aeruginosa at enrolment (no earlier positive respiratory culture, or at least two years of negative cultures) or were taking part in the companion Early Pseudomonas Infection Control clinical trial, enrolled in 2004-2006 at 59 cystic fibrosis care centres in the United States and led from the University of Washington and Seattle Children's Hospital. Participants were followed through encounter-based data collection built on the Cystic Fibrosis Foundation Patient Registry, annual family surveys, respiratory cultures and banked serum, bacterial isolates and DNA, to identify risk factors for early acquisition of P. aeruginosa and to describe its clinical consequences."; 1797; "EPIC Obs", "EPIC Observational Study", "EPIC observational cohort", "EPIC-OBS", "EPIC_Obs", "Early Pseudomonas Infection Control Observational study"; ; rdfs:label "Early Pseudomonas Infection Control Observational Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10611 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10613 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10611; "cystic fibrosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19470318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Early Pseudomonas Infection Control (EPIC) program consists of two studies, a randomized multicenter trial in CF patients ages 1-12 years at first isolation of Pa from a respiratory culture, and a longitudinal cohort study enrolling Pa-negative patients." . _:26b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10613; "Pseudomonas aeruginosa infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19470318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Early Pseudomonas Infection Control (EPIC) program consists of two studies, a randomized multicenter trial in CF patients ages 1-12 years at first isolation of Pa from a respiratory culture, and a longitudinal cohort study enrolling Pa-negative patients." . _:26ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26061914+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify novel risk factors and corroborate previously identified risk factors for mean annual decline in FEV1% predicted in a large, contemporary, United States cohort of young cystic fibrosis (CF) patients." . _:26bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558259"; "Genetic modifiers of body mass index in individuals with cystic fibrosis."; "PMID:39260370", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University), Genetic Modifier Study (GMS)17,18,19 and GMS of Severe CF Liver Disease (GMS CFLD)20,21 (University of North Carolina), and Early Pseudomonas Infection Control Observational (EPIC Obs) Study22 (University of Washington and Seattle Children’s Hospital)." . _:26bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre observational cohort of children with cystic fibrosis aged 12 years or younger who were free of Pseudomonas aeruginosa at enrolment (no earlier positive respiratory culture, or at least two years of negative cultures) or were taking part in the companion Early Pseudomonas Infection Control clinical trial, enrolled in 2004-2006 at 59 cystic fibrosis care centres in the United States and led from the University of Washington and Seattle Children's Hospital. Participants were followed through encounter-based data collection built on the Cystic Fibrosis Foundation Patient Registry, annual family surveys, respiratory cultures and banked serum, bacterial isolates and DNA, to identify risk factors for early acquisition of P. aeruginosa and to describe its clinical consequences."; "PMID:19470318", "PMID:22554417", "PMID:26061914", "PMID:39260370"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1797; "children enrolled 2004-2006"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5462119/unicode"; rdfs:comment "Almost 1,800 participants (N=1797) enrolled in the EPIC Observational Study; 114 were excluded due to being Pa-positive at enrollment or having their CF diagnosis subsequently reversed." . _:26be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC Obs"; . _:26bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-OBS"; . _:26c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC_Obs"; . a owl:NamedIndividual, ; , ; "GCST90568440"; "A nationally representative birth cohort of same-sex twins born in England and Wales in 1994-1995, drawn from a birth register of twins and recruited to represent UK families with newborns in the 1990s (ensuring enough children in disadvantaged homes and avoiding an excess of twins born to well-educated women after assisted reproduction). Proposed in 1997, funded by the Medical Research Council from 1998 and based at King's College London, it assessed the families at home when the twins were 5 (1999-2000), 7, 10, 12 and 18 years old, surveyed them online in their mid-twenties and planned a further assessment at age 30 for 2024-2025, to study how environmental and genetic factors contribute to behaviour, health and mental health problems from childhood into adulthood."; 2232; "E-Risk", "E-Risk Study", "Environmental Risk (E-Risk) Longitudinal Twin Study"; ; rdfs:label "Environmental Risk Longitudinal Twin Study"@en . _:26c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15113820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Environmental Risk Longitudinal Twin Study (E-Risk) comprised 2163 twin children from England and Wales (49.1% male) identified at birth in 1994 and 1995 and included administration of the Test of Word Reading Efficiency at age 7 years and the Wechsler Preschool and Primary Scale of Intelligence-Revised as a test of IQ at age 5 years." . _:26c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "Participants were members of E-Risk, which tracks the development of a 1994-95 birth cohort of" . _:26c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationally representative birth cohort of same-sex twins born in England and Wales in 1994-1995, drawn from a birth register of twins and recruited to represent UK families with newborns in the 1990s (ensuring enough children in disadvantaged homes and avoiding an excess of twins born to well-educated women after assisted reproduction). Proposed in 1997, funded by the Medical Research Council from 1998 and based at King's College London, it assessed the families at home when the twins were 5 (1999-2000), 7, 10, 12 and 18 years old, surveyed them online in their mid-twenties and planned a further assessment at age 30 for 2024-2025, to study how environmental and genetic factors contribute to behaviour, health and mental health problems from childhood into adulthood."; "PMID:40350583", "https://www.eriskstudy.com/about-the-e-risk-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2232; "same-sex twins in the birth cohort born 1994-1995 (1,116 families), 1999-2000"; "https://www.eriskstudy.com/about-the-e-risk-study/"; rdfs:comment "In 1998 E-Risk began by constructing a nationally representative 2-year birth cohort of 2,232 same-sex twins born in England and Wales in 1994-1995." . _:26c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "E-Risk"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10627; , ; "GCST90428068"; "The participants of a multicentre, randomised, double-blind, placebo-controlled trial at 39 UK hospital centres, funded by the Medical Research Council and National Institute for Health Research Efficacy and Mechanism Evaluation programme, in which women aged 18-50 years with chronic pelvic pain of at least three months and no obvious pelvic pathology at laparoscopy, screened between November 2015 and March 2019, were randomly assigned to gabapentin or matching placebo for 16 weeks to measure the efficacy and safety of gabapentin. Participants could give a saliva sample for genetic study at trial entry."; 306; "GaPP2", "GaPP2 trial"; ; rdfs:label "Gabapentin for chronic pelvic pain in women"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10627 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10627; "chronic pelvic pain"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32979978+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We aimed to measure the efficacy and safety of gabapentin in women with chronic pelvic pain and no obvious pelvic pathology." . _:26c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11384074/fullTextXML"; rdfs:comment "The trial, Gabapentin for chronic pelvic pain in women (GaPP2), was a UK-wide, multicenter, randomized, controlled trial of gabapentin versus placebo for the treatment of CPP." . _:26c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428068"; "Genome-wide association reveals a locus in neuregulin 3 associated with gabapentin efficacy in women with chronic pelvic pain."; "PMID:39258169", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11384074/fullTextXML"; rdfs:comment "We conducted an exploratory genome-wide association study using eligible GaPP2 participants aiming to identify genetic variants associated with gabapentin response." . _:26c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of a multicentre, randomised, double-blind, placebo-controlled trial at 39 UK hospital centres, funded by the Medical Research Council and National Institute for Health Research Efficacy and Mechanism Evaluation programme, in which women aged 18-50 years with chronic pelvic pain of at least three months and no obvious pelvic pathology at laparoscopy, screened between November 2015 and March 2019, were randomly assigned to gabapentin or matching placebo for 16 weeks to measure the efficacy and safety of gabapentin. Participants could give a saliva sample for genetic study at trial entry."; "PMID:32979978", "PMID:39258169"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 306; "women randomised (153 gabapentin, 153 placebo), 2015-2019"; "PMID:32979978"; rdfs:comment "Of these 414 women, 306 were randomly assigned (153 to gabapentin and 153 to placebo)." . _:26cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GaPP2"; . a owl:NamedIndividual, ; , , ; "GCST90179179"; "A single-centre prospective pregnancy cohort at Gurugram Civil Hospital, a secondary-care hospital in Gurugram district, Haryana, north India, that from May 2015 enrolled pregnant women before 20 weeks' gestation (dated by ultrasound) and followed them through pregnancy to delivery and once within six months after delivery, building repositories of clinical data, biospecimens and ultrasound images. Coordinated by the Translational Health Science and Technology Institute and funded by India's Department of Biotechnology, it aims to identify clinical, epidemiological, genomic, epigenomic, proteomic and microbial correlates of preterm birth and to develop risk-prediction tools for it."; 8000; "GARBH-Ini", "GARBH-Ini cohort", "GARBH-Ini pregnancy cohort", "Interdisciplinary Group for Advanced Research on Birth Outcomes - DBT India Initiative", "interdisciplinary Group for Advanced Research on BirtH outcomes - DBT India Initiative"; ; rdfs:label "Interdisciplinary Group for Advanced Research on BirtH outcomes - DBT India Initiative"@en . _:26cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10363490/fullTextXML"; rdfs:comment "Pregnant women enrolled between May 2015 to April 2021 in a large single-centre prospective cohort14 (GARBH-Ini: interdisciplinary Group for Advanced Research on BirtH outcomes - DBT India Initiative) in Haryana, India, were followed up with written informed consent till six months after delivery (cohort description provided in Appendix)." . _:26cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90179179"; "Genetic variants associated with spontaneous preterm birth in women from India: a prospective cohort study."; "PMID:37492417", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10363490/fullTextXML"; rdfs:comment "Pregnant women enrolled between May 2015 to April 2021 in a large single-centre prospective cohort14 (GARBH-Ini: interdisciplinary Group for Advanced Research on BirtH outcomes - DBT India Initiative) in Haryana, India, were followed up with written informed consent till six months after delivery (cohort description provided in Appendix)." . _:26ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre prospective pregnancy cohort at Gurugram Civil Hospital, a secondary-care hospital in Gurugram district, Haryana, north India, that from May 2015 enrolled pregnant women before 20 weeks' gestation (dated by ultrasound) and followed them through pregnancy to delivery and once within six months after delivery, building repositories of clinical data, biospecimens and ultrasound images. Coordinated by the Translational Health Science and Technology Institute and funded by India's Department of Biotechnology, it aims to identify clinical, epidemiological, genomic, epigenomic, proteomic and microbial correlates of preterm birth and to develop risk-prediction tools for it."; "PMID:30770926", "PMID:37492417", "PMID:39030058"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8000; "pregnant women enrolled before 20 weeks' gestation, May 2015 to Aug 2020"; "PMID:39030058"; rdfs:comment "In the GARBH-Ini (Interdisciplinary Group for Advanced Research on Birth Outcomes-DBT India Initiative) pregnancy cohort, 8000 participants were enrolled with less than 20 weeks' gestation between May 11, 2015, and Aug 8, 2020, at a secondary-care hospital in north India." . _:26d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARBH-Ini"; . a owl:NamedIndividual, ; , , ; "GCST90308666"; "A collaborative network of biobanks and genomics initiatives, formed in 2019 by 23 biobanks from four continents (North America, Europe, East and West Asia, and Australia) and since joined by others, whose participants have genotypes linked to electronic health records or other health data. Member biobanks run genome-wide association studies with harmonised phenotype definitions and methods, stratified by ancestry and sex, and GBMI meta-analyses the summary statistics across biobanks and ancestries, beginning with 14 diseases and endpoints, and releases them publicly, to increase the power and ancestral diversity of genetic studies of human disease."; 2200000; "GBMI"; ; rdfs:label "Global Biobank Meta-analysis Initiative"@en . _:26d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10897632/unicode"; rdfs:comment "We combined the European-specific IGGC meta-analysis data (GCST90011767), the GLADD meta-analysis (GCST009245), and the GBMI data in which we excluded FinnGen (a subset present in IGGC of European ancestry), BioME from African ancestry (a subset present in GGLAD), and UKBB-Africa (a subset present in GGLAD) cohorts." . _:26d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10897632/unicode"; rdfs:comment "PMBB and CCPM are part of the GBMI that joined the consortium after initial analysis of the data and have been previously described and use same phenotyping and GWAS protocols as other GBMI biobanks." . _:26d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10897632/unicode"; rdfs:comment "PMBB and CCPM are part of the GBMI that joined the consortium after initial analysis of the data and have been previously described and use same phenotyping and GWAS protocols as other GBMI biobanks." . _:26d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90308666"; "Multi-ancestry meta-analysis identifies 5 novel loci for ischemic stroke and reveals heterogeneity of effects between sexes and ancestries."; "PMID:37601974", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37601974+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide meta-analysis of 16 biobanks across multiple ancestries to study the genetics of ischemic stroke (60,176 cases, 1,310,725 controls) as part of the Global Biobank Meta-analysis Initiative (GBMI) and further combined the results with previously published MegaStroke." . _:26d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative network of biobanks and genomics initiatives, formed in 2019 by 23 biobanks from four continents (North America, Europe, East and West Asia, and Australia) and since joined by others, whose participants have genotypes linked to electronic health records or other health data. Member biobanks run genome-wide association studies with harmonised phenotype definitions and methods, stratified by ancestry and sex, and GBMI meta-analyses the summary statistics across biobanks and ancestries, beginning with 14 diseases and endpoints, and releases them publicly, to increase the power and ancestral diversity of genetic studies of human disease."; "PMID:36777996", "https://www.globalbiobankmeta.org/parcipating-biobanks"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2200000; "participants with genotypes and health data across the 23 member biobanks of the flagship project (as of April 2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9903716/fullTextXML"; rdfs:comment "GBMI represents 2.2 million research participants with health and genetic data from 23 biobanks: one from Australia, one from West Asia, four from East Asian countries, eight from European countries, and nine from North America." . _:26d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GBMI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10646; , , ; "GCST90267402"; "Patients with diffuse large B-cell lymphoma (DLBCL) enrolled in the LNH03 (LNH 2003) programme of treatment trials of the Groupe d'Etude des Lymphomes de l'Adulte (GELA, later the Lymphoma Study Association, LYSA), who consented to DNA analysis. The programme's trials, opened from December 2003 at centres mainly in France and Belgium for patients of different ages and prognostic risk, were the randomised trials LNH03-1B, LNH03-2B and LNH03-6B, the phase 2 trial LNH03-3B, LNH03-39B and a phase 2 trial of R-miniCHOP in patients over 80. The patients' germline DNA was genotyped as the case series of GELA's genome-wide association study of DLBCL, with controls drawn from the French component of EPIC."; 549; 549; "GELA", "Treatment program of DLBCL patients from the Groupe dEtude des Lymphomes de lAdulte"; ; rdfs:label "Treatment program of DLBCL patients from the Groupe d'Etude des Lymphomes de l'Adulte"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10646 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10646; "diffuse large B-cell lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4213349/fullTextXML"; rdfs:comment "In stage 2, we included data from two unpublished and previously genotyped GWAS (GELA/EPIC and Mayo) plus one published GWAS (UCSF7), totaling 1,196 DLCBL cases and 1,445 controls (Online Methods; Supplementary Tables 1, 3)." . _:26d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21482186+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients were included from 38 centres in France and Belgium." . _:26da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267402"; "Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes."; "PMID:36273105", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41375-022-01711-0/MediaObjects/41375_2022_1711_MOESM1_ESM.docx"; rdfs:comment "Groupe d'Etude des Lymphomes de l'Adulte (GELA) /EPIC GWAS" . _:26db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Patients with diffuse large B-cell lymphoma (DLBCL) enrolled in the LNH03 (LNH 2003) programme of treatment trials of the Groupe d'Etude des Lymphomes de l'Adulte (GELA, later the Lymphoma Study Association, LYSA), who consented to DNA analysis. The programme's trials, opened from December 2003 at centres mainly in France and Belgium for patients of different ages and prognostic risk, were the randomised trials LNH03-1B, LNH03-2B and LNH03-6B, the phase 2 trial LNH03-3B, LNH03-39B and a phase 2 trial of R-miniCHOP in patients over 80. The patients' germline DNA was genotyped as the case series of GELA's genome-wide association study of DLBCL, with controls drawn from the French component of EPIC."; "PMID:21482186", "PMID:21546499", "PMID:22118442", "PMID:23235801", "PMID:23578722", "PMID:25261932", "PMID:36273105"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 549; "DLBCL cases from the LNH03 programme genotyped in the GELA GWAS (cases only)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4213349/fullTextXML"; rdfs:comment "Three independent DLBCL GWAS provided genotyping data for a meta-analysis, (Supplementary Table 1), which included data generated with the following commercial, SNP microarrays: Illumina HumanHap 660W for Mayo (393 DLBCL and 172 controls), HumanCNV370-Duo for UCSF7 (254 DLBCLs and 748 controls), and HumanHap 610K for GELA (549 cases)." . _:26dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 549; "DLBCL cases from the LNH03 programme genotyped in the GELA GWAS (cases only)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4213349/fullTextXML"; rdfs:comment "Three independent DLBCL GWAS provided genotyping data for a meta-analysis, (Supplementary Table 1), which included data generated with the following commercial, SNP microarrays: Illumina HumanHap 660W for Mayo (393 DLBCL and 172 controls), HumanCNV370-Duo for UCSF7 (254 DLBCLs and 748 controls), and HumanHap 610K for GELA (549 cases)." . _:26de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GELA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10654; , ; "GCST90446233"; "A case-control study of Alzheimer's disease in community-dwelling African Americans aged 65 or older, led from Johns Hopkins University, whose participants were identified through the electronic claims database of the Henry Ford Health System in Detroit, Michigan, and had a proxy informant; cases met NINCDS-ADRDA criteria for possible or probable Alzheimer's disease at a consensus conference, and controls were cognitively normal."; 246; 204; 450; "GenerAAtions", "GenerAAtions Study", "Genetic and Environmental Risk Factors for Alzheimer Disease Among African Americans", "Genetic and Environmental Risk Factors for Alzheimer Disease Among African Americans Study", "Genetic and Environmental Risk Factors for Alzheimer's Disease Among African Americans"; ; rdfs:label "Genetic and Environmental Risk Factors for Alzheimer's Disease Among African Americans Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10654 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10654; "Alzheimer's disease"; "https://dss.niagads.org/cohorts/genetic-and-environmental-risk-factors-for-alzheimers-disease-among-african-americans-generaations/"; rdfs:comment "Cases met NINCDS-ADRDA criteria for possible or probable AD, determined in a consensus conference which included a behavioral neurologist, psychiatrist, neuropsychologist, and a behavioral neurology nurse practitioner." . _:26e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446233"; "Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry."; "PMID:38958117", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11350055/supplementaryFiles"; rdfs:comment "The Genetic and Environmental Risk Factors for Alzheimer’s Disease Among African Americans (GenerAAtions) Study." . _:26e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of Alzheimer's disease in community-dwelling African Americans aged 65 or older, led from Johns Hopkins University, whose participants were identified through the electronic claims database of the Henry Ford Health System in Detroit, Michigan, and had a proxy informant; cases met NINCDS-ADRDA criteria for possible or probable Alzheimer's disease at a consensus conference, and controls were cognitively normal."; "PMID:20697030", "PMID:22159054", "https://dss.niagads.org/cohorts/genetic-and-environmental-risk-factors-for-alzheimers-disease-among-african-americans-generaations/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 246; "GenerAAtions cases and controls in the 2011 African American AD GWAS (Table 1, GenerAAtions column)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3356921/"; rdfs:comment "Sample Sizes of African American (Discovery) and White (Replication) Data Sets Data Sets African American White MIRAGE GenerAAtions Total MIRAGE ADNI GenADA NIA-LOAD FHS Total No. of cases 267 246 513 609 254 669 1839 197 3568 No. of controls 292 204 496 875 169 713 1983 2465 6205 Total 559 450 1009" . _:26e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 204; "GenerAAtions cases and controls in the 2011 African American AD GWAS (Table 1, GenerAAtions column)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3356921/"; rdfs:comment "Sample Sizes of African American (Discovery) and White (Replication) Data Sets Data Sets African American White MIRAGE GenerAAtions Total MIRAGE ADNI GenADA NIA-LOAD FHS Total No. of cases 267 246 513 609 254 669 1839 197 3568 No. of controls 292 204 496 875 169 713 1983 2465 6205 Total 559 450 1009" . _:26e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 450; "GenerAAtions cases and controls in the 2011 African American AD GWAS (Table 1, GenerAAtions column)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3356921/"; rdfs:comment "Sample Sizes of African American (Discovery) and White (Replication) Data Sets Data Sets African American White MIRAGE GenerAAtions Total MIRAGE ADNI GenADA NIA-LOAD FHS Total No. of cases 267 246 513 609 254 669 1839 197 3568 No. of controls 292 204 496 875 169 713 1983 2465 6205 Total 559 450 1009" . _:26e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenerAAtions"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10662, _:genid-371333f489424440b12a13b9d98ced822608-genid10664, _:genid-371333f489424440b12a13b9d98ced822608-genid10666; , ; , ; "GCST90129576"; "A population-based case-control study of breast cancer in women of the Greater Bonn region, Germany, run by the GENICA network of German research institutions, in which incident cases, enrolled from all hospitals of the region in 2000–2004 within six months of diagnosis, and controls drawn from the population registries of 31 communities of the region and matched in five-year age classes were interviewed and gave blood, to study how genes and environmental exposures interact in breast cancer."; 1022; 1014; "GENICA", "Gene Environment Interactions and Breast Cancer study", "Gene-ENvironment Interaction and breast CAncer", "gene environment interaction and breast cancer"; ; rdfs:label "Gene Environment Interaction and Breast Cancer in Germany"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10662 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10664 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10666 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10662; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20039012+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GENICA study involved interviews to assess shift work information in 857 breast cancer cases and 892 controls." . _:26e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10664; "night work", "shift work"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20039012+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have investigated the risk in a German population-based case-control study known as GENICA (gene environment interaction and breast cancer)." . _:26e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10666; "environmental factors interacting with genes in breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20039012+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have investigated the risk in a German population-based case-control study known as GENICA (gene environment interaction and breast cancer)." . _:26e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3677984/fullTextXML"; rdfs:comment "Three studies were from Germany: the Bavarian Breast Cancer Cases and Controls Collection (BBCC), the Gene Environment Interactions and Breast Cancer study (GENICA), and the Mammary Carcinoma Risk Factor Investigation (MARIE)." . _:26ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, the Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany." . _:26eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer in women of the Greater Bonn region, Germany, run by the GENICA network of German research institutions, in which incident cases, enrolled from all hospitals of the region in 2000–2004 within six months of diagnosis, and controls drawn from the population registries of 31 communities of the region and matched in five-year age classes were interviewed and gave blood, to study how genes and environmental exposures interact in breast cancer."; "PMID:20039012", "PMID:23781229", "PMID:25229211"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1022; "breast cancer cases and controls analysed in the 2014 GENICA circadian-gene study; no total stated"; "PMID:25229211"; rdfs:comment "Associations between seven polymorphisms in circadian genes (CLOCK, NPAS2, ARTNL, PER2 and CRY2), genes of melatonin biosynthesis and signaling (AANAT and MTNR1B) and breast cancer were analyzed with conditional logistic regression models, adjusted for potential confounders for 1022 cases and 1014 controls." . _:26ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1014; "breast cancer cases and controls analysed in the 2014 GENICA circadian-gene study; no total stated"; "PMID:25229211"; rdfs:comment "Associations between seven polymorphisms in circadian genes (CLOCK, NPAS2, ARTNL, PER2 and CRY2), genes of melatonin biosynthesis and signaling (AANAT and MTNR1B) and breast cancer were analyzed with conditional logistic regression models, adjusted for potential confounders for 1022 cases and 1014 controls." . _:26ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENICA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10674; , ; "GCST90565134"; "A case-control sample of people with psoriasis, ascertained through dermatologists or other secondary-care specialists, and controls, all drawn from the Québec founder population (people whose four grandparents had French-Canadian family names and were born in Québec or neighbouring areas), assembled by Genizon BioSciences of Saint-Laurent, Québec, and genotyped genome-wide on the Illumina Human 1M BeadChip; it is one of the European-ancestry GWAS datasets of the international psoriasis genetics meta-analyses."; 760; 995; 1755; "Genizon", "Genizon BioSciences"; ; rdfs:label "Genizon GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10674 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10674; "psoriasis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11783861/fullTextXML"; rdfs:comment "Currently published GWASs include eight Europe-originated psoriasis-associated GWAS cohorts, including CASP [7], Kiel [8], Genizon [8], PsA GWAS [9], WTCCC2 [10], Exomechip [11], PAGE [12], and GAPC [12], two South Asia-originated psoriasis-associated GWAS cohort including three batches [13], and one East Asia-originated psoriasis-associated GWAS cohort [14]." . _:26f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4423213/fullTextXML"; rdfs:comment "The Kiel sample included 471 cases and 1,129 controls, and the Genizon data from Canada included 1,755 samples." . _:26f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565134"; "Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis."; "PMID:39885523", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11783861/fullTextXML"; rdfs:comment "Currently published GWASs include eight Europe-originated psoriasis-associated GWAS cohorts, including CASP [7], Kiel [8], Genizon [8], PsA GWAS [9], WTCCC2 [10], Exomechip [11], PAGE [12], and GAPC [12], two South Asia-originated psoriasis-associated GWAS cohort including three batches [13], and one East Asia-originated psoriasis-associated GWAS cohort [14]." . _:26f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of people with psoriasis, ascertained through dermatologists or other secondary-care specialists, and controls, all drawn from the Québec founder population (people whose four grandparents had French-Canadian family names and were born in Québec or neighbouring areas), assembled by Genizon BioSciences of Saint-Laurent, Québec, and genotyped genome-wide on the Illumina Human 1M BeadChip; it is one of the European-ancestry GWAS datasets of the international psoriasis genetics meta-analyses."; "PMID:20953188", "PMID:25903422", "PMID:40021644"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 760; "psoriasis cases and controls in the Genizon GWAS dataset (after QC, as analysed)"; "https://europepmc.org/api/getPdf?pmcid=PMC4423213"; rdfs:comment "Genizon European Canada 760 995 1,755 1.039 1.045" . _:26f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 995; "psoriasis cases and controls in the Genizon GWAS dataset (after QC, as analysed)"; "https://europepmc.org/api/getPdf?pmcid=PMC4423213"; rdfs:comment "Genizon European Canada 760 995 1,755 1.039 1.045" . _:26f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1755; "psoriasis cases and controls in the Genizon GWAS dataset (after QC, as analysed)"; "https://europepmc.org/api/getPdf?pmcid=PMC4423213"; rdfs:comment "Genizon European Canada 760 995 1,755 1.039 1.045" . _:26f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genizon"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10683; , , ; "GCST90244787"; "A family-based genetic study of atopic dermatitis run from Charité Universitätsmedizin Berlin, which recruited complete nuclear families, mostly German and a few Swedish, through at least two children with physician-diagnosed, moderate to severe atopic dermatitis that began before the age of two, and in its extended phase also unrelated children with such early-onset disease, recording asthma and hay fever at recruitment, for genetic studies of atopic dermatitis and allergic disease."; "GENUFAD", "GENUFAD study", "GEnetic studies in NUclear Families with Atopic Dermatitis", "Genetic Analysis of Nuclear Families with Atopic Dermatitis", "Genetic Studies in Nuclear Families with Atopic Dermatitis"; ; rdfs:label "GEnetic analysis of NUclear Families with Atopic Dermatitis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10683 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10683; "atopic dermatitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4355615/fullTextXML"; rdfs:comment "The GENUFAD study (Genetic Analysis of Nuclear Families with Atopic Dermatitis) recruited complete nuclear families with at least two children affected with early-onset (<2 years of age) and moderate to severe AD as previously described [20]." . _:26f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4355615/fullTextXML"; rdfs:comment "The GENUFAD study contributed 522 complete German nuclear families to the Central European study and 32 Swedish families to the Northern European data set." . _:26f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244787"; "European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation."; "PMID:37794016", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550990/supplementaryFiles"; rdfs:comment "Children of the extended GENUFAD study were unrelated individuals recruited based on moderate to severe atopic dermatitis and an age of onset below two years." . _:26fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based genetic study of atopic dermatitis run from Charité Universitätsmedizin Berlin, which recruited complete nuclear families, mostly German and a few Swedish, through at least two children with physician-diagnosed, moderate to severe atopic dermatitis that began before the age of two, and in its extended phase also unrelated children with such early-onset disease, recording asthma and hay fever at recruitment, for genetic studies of atopic dermatitis and allergic disease."; "PMID:25757221", "PMID:29083406", "PMID:37794016"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:26fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENUFAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10689, _:genid-371333f489424440b12a13b9d98ced822608-genid10691; , ; ; "GCST90132314"; "A series of German case collections for genetic studies of myocardial infarction and coronary artery disease, numbered GerMIFS I to VII, that began as a family study recruiting, from all parts of Germany, people with myocardial infarction before the age of 60 and relatives with premature coronary artery disease. Later collections added patients with early-onset myocardial infarction, non-fatal myocardial infarction cases from the KORA registry of the Augsburg region, and patients with coronary artery disease or myocardial infarction referred for coronary angiography, mostly compared with population controls from other German studies."; "GerMIFS", "GerMIFs", "German MI Family Studies", "German MI Family Study", "German Myocardial Infarction Family Studies"; ; rdfs:label "German Myocardial Infarction Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10689 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10691 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:26fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10689; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719290/unicode"; rdfs:comment "The 875 case subjects in the German MI Family Study were persons who had myocardial infarction before the age of 60 years and at least one first-degree relative with premature coronary artery disease." . _:26fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10691; "myocardial infarction"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2719290/unicode"; rdfs:comment "The 875 case subjects in the German MI Family Study were persons who had myocardial infarction before the age of 60 years and at least one first-degree relative with premature coronary artery disease." . _:26fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9729111/supplementaryFiles"; rdfs:comment "The GerMIFS V cases consist of patients referred for coronary angiography, classified as MI cases, from Germany (5)." . _:26ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132314"; "Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants."; "PMID:36474045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9729111/supplementaryFiles"; rdfs:comment "The GerMIFS V cases consist of patients referred for coronary angiography, classified as MI cases, from Germany (5)." . _:27002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A series of German case collections for genetic studies of myocardial infarction and coronary artery disease, numbered GerMIFS I to VII, that began as a family study recruiting, from all parts of Germany, people with myocardial infarction before the age of 60 and relatives with premature coronary artery disease. Later collections added patients with early-onset myocardial infarction, non-fatal myocardial infarction cases from the KORA registry of the Augsburg region, and patients with coronary artery disease or myocardial infarction referred for coronary angiography, mostly compared with population controls from other German studies."; "PMID:17634449", "PMID:18398472", "PMID:20923989", "PMID:26343387", "PMID:36474045"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GerMIFS"; . _:27022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GerMIFs"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10698; , ; , ; "GCST90002227"; "A prospective population-based cohort of adults from the county of Västerbotten in northern Sweden, nested within the Northern Sweden Health and Disease Study, whose members had baseline health and lifestyle examinations in the Västerbotten Intervention Programme between 1985 and 2004, in the years of their 40th, 50th or 60th birthdays, with a repeat examination about ten years later. It was established in 2008 to study the genetics of cardiometabolic traits and interactions between genes and lifestyle."; 20000; "GLACIER", "GLACIER Study", "Gene x Lifestyle interactions And Complex traits Involved in Elevated disease Risk Study", "Gene-Lifestyle interactions And Complex traits Involved in Elevated disease Risk Study"; ; rdfs:label "Gene-Lifestyle Interactions and Complex Traits Involved in Elevated Disease Risk Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10698 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10698; "gene-lifestyle interactions", "lifestyle (diet, physical activity, smoking, alcohol)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4225623/unicode"; rdfs:comment "Established in 2008, the GLACIER Study comprises a cohort suitable for studies on the genetics of complex cardio-metabolic traits and gene-environment interactions, nested within the NSHDS." . _:27042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3012192/fullTextXML"; rdfs:comment "Sixteen fasting glucose-raising loci were genotyped in middle-aged adults from the Gene x Lifestyle interactions And Complex traits Involved in Elevated disease Risk (GLACIER) Study, a population-based prospective cohort study from northern Sweden." . _:27052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3012192/fullTextXML"; rdfs:comment "The GLACIER Study is a prospective, population-based cohort study comprising 19,547 adults from the northern Swedish county of Västerbotten, nested within the Northern Sweden Health and Disease Study (20)." . _:27062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3679547/"; rdfs:comment "The GLACIER study is a nested study within the Northern Sweden Health and Disease Study; phenotyping was conducted as part of the Västerbotten Intervention Project." . _:27072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002227"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00852-9/MediaObjects/41588_2021_852_MOESM1_ESM.pdf"; rdfs:comment "GLACIER" . _:27082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of adults from the county of Västerbotten in northern Sweden, nested within the Northern Sweden Health and Disease Study, whose members had baseline health and lifestyle examinations in the Västerbotten Intervention Programme between 1985 and 2004, in the years of their 40th, 50th or 60th birthdays, with a repeat examination about ten years later. It was established in 2008 to study the genetics of cardiometabolic traits and interactions between genes and lifestyle."; "PMID:20870969", "PMID:25396097", "PMID:26625858"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "participants with a baseline examination 1985-2004 (approximate)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4225623/unicode"; rdfs:comment "The GLACIER Study includes roughly 20,000 participants who underwent the baseline health examination between 1985 and 2004, of whom around 7,000 have undergone a 10-year follow-up exam (with ongoing data collection)." . _:270a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLACIER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10707, _:genid-371333f489424440b12a13b9d98ced822608-genid10709, _:genid-371333f489424440b12a13b9d98ced822608-genid10711, _:genid-371333f489424440b12a13b9d98ced822608-genid10713; , ; ; "GCST90244787"; "A birth cohort of children born in 1990 and recruited in the maternity wards of university hospitals in five German cities (Berlin, Düsseldorf, Freiburg, Mainz and Munich), enriched for newborns at high risk of allergy, with two allergic immediate family members or raised cord-blood IgE, alongside a random sample of low-risk newborns, and followed with repeated examinations and questionnaires from infancy into adulthood to study the course of asthma, allergic rhinitis, eczema and allergic sensitisation."; "The acronym MAS also denotes Sydney Memory and Ageing Study (COHO:0002033) and Malaysian Ovarian Cancer Genetic Study (COHO:0002103); this term is German Multicenter Allergy Study."@en; 1314; "G.MAS", "German Multicentre Allergy Study", "German multicentre atopy study", "MAS", "MAS-90", "Multicenter Allergy Study", "Multicentre Allergy Study"; ; rdfs:label "German Multicenter Allergy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10707 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10709 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10711 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10713 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:270b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10707; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4355615/fullTextXML"; rdfs:comment "The MAS (Multicenter Allergy Study) is a previously described population-based birth cohort in which 1314 German infants were followed since 1990 to investigate the epidemiology of allergic diseases [44]." . _:270c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10709; "eczema"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4355615/fullTextXML"; rdfs:comment "The MAS (Multicenter Allergy Study) is a previously described population-based birth cohort in which 1314 German infants were followed since 1990 to investigate the epidemiology of allergic diseases [44]." . _:270d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10711; "allergic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4355615/fullTextXML"; rdfs:comment "The MAS (Multicenter Allergy Study) is a previously described population-based birth cohort in which 1314 German infants were followed since 1990 to investigate the epidemiology of allergic diseases [44]." . _:270e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10713; "allergic rhinitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4355615/fullTextXML"; rdfs:comment "The MAS (Multicenter Allergy Study) is a previously described population-based birth cohort in which 1314 German infants were followed since 1990 to investigate the epidemiology of allergic diseases [44]." . _:270f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4744942/fullTextXML"; rdfs:comment "The German Multicentre Allergy Study began with the recruitment of 1314 newborns between January and December 1990 in maternity wards from university hospitals in 5 German cities – Berlin, Düsseldorf, Freiburg, Mainz and Munich" . _:27102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244787"; "European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation."; "PMID:37794016", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10550990/supplementaryFiles"; rdfs:comment "The Multicentre Allergy Study (MAS) is a German birth cohort which has been described in detail previously71,72 ." . _:27112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of children born in 1990 and recruited in the maternity wards of university hospitals in five German cities (Berlin, Düsseldorf, Freiburg, Mainz and Munich), enriched for newborns at high risk of allergy, with two allergic immediate family members or raised cord-blood IgE, alongside a random sample of low-risk newborns, and followed with repeated examinations and questionnaires from infancy into adulthood to study the course of asthma, allergic rhinitis, eczema and allergic sensitisation."; "PMID:25757221", "PMID:26011739", "PMID:29664587"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1314; "newborns recruited in 1990"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4744942/fullTextXML"; rdfs:comment "The German Multicentre Allergy Study began with the recruitment of 1314 newborns between January and December 1990 in maternity wards from university hospitals in 5 German cities – Berlin, Düsseldorf, Freiburg, Mainz and Munich – and has been described in detail elsewhere 19 including follow‐up methods 7." . _:27132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G.MAS"; . _:27142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAS"; . _:27152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAS-90"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10722; , ; "GCST90558259"; "A case-control study of genetic modifiers of cystic fibrosis lung disease, led by the University of North Carolina at Chapel Hill and Case Western Reserve University, that enrolled unrelated patients homozygous for F508del whose lung function for age was at either extreme (severe or mild disease) from cystic fibrosis centres across the United States, together with a smaller population-based sample from children's hospitals in Denver, Wisconsin and Boston."; "The acronym CWRU also denotes Cleveland Clinic Foundation/Veteran Affairs Medical Center Cohort (COHO:0001641); this term is Genetic Modifier Study."@en; 1203; "CWRU", "GMS", "GMS Lung Study", "Gene Modifier Study", "UNC", "US extremes of phenotype study", "University of North Carolina/Case Western Reserve University Case-Control Study"; ; rdfs:label "Genetic Modifier Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10722 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10722; "cystic fibrosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3296486/fullTextXML"; rdfs:comment "The Genetic Modifier Study (GMS) consists of unrelated patients homozygous for the common CF allele F508del (HGVS nomenclature: p.Phe508del), recruited from extremes of lung function9." . _:27172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2995003/"; rdfs:comment "(II) the University of North Carolina/Case Western Reserve University Case-Control Study, a sample ascertained on the phenotype of extremes of lung disease (7) (US extremes of phenotype study)" . _:27182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558259"; "Genetic modifiers of body mass index in individuals with cystic fibrosis."; "PMID:39260370", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University), Genetic Modifier Study (GMS)17,18,19 and GMS of Severe CF Liver Disease (GMS CFLD)20,21 (University of North Carolina), and Early Pseudomonas Infection Control Observational (EPIC Obs) Study22 (University of Washington and Seattle Children’s Hospital)." . _:27192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of genetic modifiers of cystic fibrosis lung disease, led by the University of North Carolina at Chapel Hill and Case Western Reserve University, that enrolled unrelated patients homozygous for F508del whose lung function for age was at either extreme (severe or mild disease) from cystic fibrosis centres across the United States, together with a smaller population-based sample from children's hospitals in Denver, Wisconsin and Boston."; "PMID:16207846", "PMID:20681990", "PMID:21602797", "PMID:26417704"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:271a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1203; "unrelated F508del homozygotes at lung-function extremes genotyped for the first consortium GWAS (extremes arm only)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2995003/unicode"; rdfs:comment "The extremes of phenotype study collected and genotyped 1,203 unrelated CF patients who (a) were homozygous for F508del, the most common CFTR mutation and (b) had lung function at the extremes of the population distribution." . _:271b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CWRU"; . _:271c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GMS"; . _:271d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UNC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10731, _:genid-371333f489424440b12a13b9d98ced822608-genid10733; , , , , , , , , , , , , , , , , , , , ; "GCST90558259"; "A two-stage case-control study of genetic modifiers of severe liver disease in cystic fibrosis, coordinated by the University of North Carolina at Chapel Hill, which from January 1999 enrolled people with cystic fibrosis and cirrhosis with portal hypertension from cystic fibrosis centres in the United States, Canada and other countries of Europe, Australia, South America and the Middle East, and compared them with people with cystic fibrosis aged 15 or over without liver disease, many of them from the Genetic Modifier Study of lung disease."; 612; "GMS CFLD", "GMS of Severe CF Liver Disease", "GMS_CFLD", "Genetic Modifier Study of Severe Cystic Fibrosis Liver Disease", "Genetic Modifier Study of Severe Liver Disease in Cystic Fibrosis"; ; rdfs:label "Genetic Modifier Study of Severe CF Liver Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10733 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:271e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10731; "cystic fibrosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19738092+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two-stage case-control study enrolling patients with CF and severe liver disease with portal hypertension (CFLD) from 63 CF centers in the United States as well as 32 in Canada and 18 outside of North America, with the University of North Carolina at Chapel Hill as the coordinating site." . _:271f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10733; "cystic fibrosis liver disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19738092+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two-stage case-control study enrolling patients with CF and severe liver disease with portal hypertension (CFLD) from 63 CF centers in the United States as well as 32 in Canada and 18 outside of North America, with the University of North Carolina at Chapel Hill as the coordinating site." . _:27202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6181334/fullTextXML"; rdfs:comment "Severe CFLD subjects described in this analysis were enrolled in the Genetic Modifier Study of Severe CF Liver Disease from 34 North American CF Centers from the United States (n = 145 CFLD patients) and Canada (n = 34 CFLD patients), with a coordinating center at The University of North Carolina at Chapel Hill as previously described [7]." . _:27212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3711243/"; rdfs:comment "Of the 158 CF patients evaluated for severe liver disease (CFLD; portal hypertension; enrolled 1/1999–12/2004), there were 128 patients who fulfilled criteria from 22 CF Centers in 10 countries (Australia, 8; Canada, 17; Czech Republic, 17; Germany, 3; Italy, 28; Netherlands, 1; Scotland, 2; Slovakia, 4; Turkey, 4; and U.S., 44)." . _:27222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3711243/"; rdfs:comment "Of the 191 CF patients evaluated for CFLD (portal hypertension; enrolled 1/2005–2/2007), there were 139 CF patients who fulfilled criteria from 35 CF Centers in 10 countries (Argentina, 5; Australia, 5; Canada, 24; Chile, 1; France, 9; Ireland, 8; Israel, 7; Italy, 14; United Kingdom, 4; and U.S., 62)." . _:27232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90558259"; "Genetic modifiers of body mass index in individuals with cystic fibrosis."; "PMID:39260370", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11480786/"; rdfs:comment "The Cystic Fibrosis Genome Project (CFGP) is comprised of individuals with CF recruited by the CF Twin and Sibling Study (TSS)15 and Cystic Fibrosis-Related Diabetes (CFRD) Study16 (Johns Hopkins University), Genetic Modifier Study (GMS)17,18,19 and GMS of Severe CF Liver Disease (GMS CFLD)20,21 (University of North Carolina), and Early Pseudomonas Infection Control Observational (EPIC Obs) Study22 (University of Washington and Seattle Children’s Hospital)." . _:27242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A two-stage case-control study of genetic modifiers of severe liver disease in cystic fibrosis, coordinated by the University of North Carolina at Chapel Hill, which from January 1999 enrolled people with cystic fibrosis and cirrhosis with portal hypertension from cystic fibrosis centres in the United States, Canada and other countries of Europe, Australia, South America and the Middle East, and compared them with people with cystic fibrosis aged 15 or over without liver disease, many of them from the Genetic Modifier Study of lung disease."; "PMID:19738092", "PMID:27062904", "PMID:30307979"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 612; "CF liver disease cases enrolled Jan 1999 to Jul 2013 (controls not counted in this source)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4955685/unicode"; rdfs:comment "Fifty-one of the 612 enrolled patients (8%) with a presumed diagnosis of CFLD were excluded (Figure 1); 32 due to an additional cause of liver disease or insufficient evidence of portal hypertension, 15 with incomplete clinical documentation, and 4 whose diagnosis of CFLD occurred > 30 years of age and therefore considered to be outliers." . _:27262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GMS CFLD"; . _:27272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GMS_CFLD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10743; , ; "GCST90244577"; "A pharmacogenetic sample of adult outpatients of white European ancestry with moderate to severe major depressive disorder who completed escitalopram treatment in two identically designed randomised, double-blind, placebo-controlled GlaxoSmithKline trials run in the United States in 2003–2004 to compare bupropion XL with escitalopram for antidepressant efficacy and effects on sexual functioning; GlaxoSmithKline contributed their DNA to the NEWMEDS consortium for genetic studies of antidepressant response."; "GSK is GlaxoSmithKline, a company. The GWAS Catalog uses the cohort tag GSK for the pharmacogenetic sample from two GlaxoSmithKline escitalopram trials pooled in the antidepressant-response GWAS (GCST90244577, GCST90244578), which is what this term denotes; the GSK Munich recurrent major depression case-control study (COHO:0001182) is a different GlaxoSmithKline sample, and studies that name GlaxoSmithKline only as a funder or sponsor are not this cohort."@en; 191; "Glaxo Smith Kline", "Glaxo-Smith Kline"; ; rdfs:label "GSK"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10743; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/supplementaryFiles"; rdfs:comment "The samples from GSK derived from two randomized, double-blind, placebo-controlled comparisons of the antidepressant efficacy and the effects on sexual functioning of Bupropion XL and escitalopram in outpatients with moderate to severe depression (22)." . _:27292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/supplementaryFiles"; rdfs:comment "The studies were parallel groups and identically designed, conducted between January 2003 and June 2004 in the United States." . _:272a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244577"; "Identifying the Common Genetic Basis of Antidepressant Response."; "PMID:35712048", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/supplementaryFiles"; rdfs:comment "The samples from GSK derived from two randomized, double-blind, placebo-controlled comparisons of the antidepressant efficacy and the effects on sexual functioning of Bupropion XL and escitalopram in outpatients with moderate to severe depression (22)." . _:272b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pharmacogenetic sample of adult outpatients of white European ancestry with moderate to severe major depressive disorder who completed escitalopram treatment in two identically designed randomised, double-blind, placebo-controlled GlaxoSmithKline trials run in the United States in 2003–2004 to compare bupropion XL with escitalopram for antidepressant efficacy and effects on sexual functioning; GlaxoSmithKline contributed their DNA to the NEWMEDS consortium for genetic studies of antidepressant response."; "PMID:16841623", "PMID:23091423", "PMID:35712048"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:272c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 191; "escitalopram-arm participants contributed by GlaxoSmithKline to NEWMEDS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3472989/fullTextXML"; rdfs:comment "As part of the NEWMEDS consortium (http://www.newmeds-europe.com) [13], three studies conducted by academic institutions (GENDEP, a part-randomized open study of two active antidepressants, n = 868; GENPOD, a randomized controlled trial of two active antidepressants, n = 601; and GODS, a treatment cohort of severe depression, n = 131) [14]–[16] and two studies by pharmaceutical industry members of the European Federation of Pharmaceutical Industries and Associations (active comparator arms from randomized controlled trials by Pfizer, n = 355, and GlaxoSmithKline, n = 191) were combined to obtain a sample of 2,146 adult individuals (1,205 women and 941 men; see Table 1 in Text S1 for description by contributing study) diagnosed with unipolar MDD according to the Diagnostic and Statistical Manual of Mental Disorders–IV and the International Classification of Diseases–10, with prospective data on outcome of treatment with SRI or NRI antidepressants." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10749; , ; "PGS000876", "PMID:22472876"; "A case-control sample for recurrent major depressive disorder, collected with GlaxoSmithKline, of German patients with recurrent moderate or severe major depression recruited at the Max Planck Institute of Psychiatry in Munich and two satellite hospitals in the Munich area (BKH Augsburg and Klinikum Ingolstadt), and age- and sex-matched controls from a Munich community sample screened free of lifetime mood and anxiety disorders, genotyped genome-wide for studies of the genetics of depression."; 887; 864; 1751; "GSK", "GSK-Munich", "GlaxoSmithKline", "SGRD", "Southern German Recurrent Depression"; ; rdfs:label "GSK Munich recurrent major depression case-control study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10749 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:272d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10749; "recurrent major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19107115+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The first GWAS was performed on 1022 recurrent MDD patients and 1000 controls genotyped on the Illumina 550 platform." . _:272e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2012.21/MediaObjects/41380_2013_BFmp201221_MOESM194_ESM.doc"; rdfs:comment "affected controls were recruited at the Max-Planck Institute of Psychiatry in Munich, Germany" . _:272f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000876"; "Polygenic risk and hazard scores for Alzheimer's disease prediction."; "PMID:30911569" . _:27302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22472876"; "A mega-analysis of genome-wide association studies for major depressive disorder."; "PMID:22472876", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2012.21/MediaObjects/41380_2013_BFmp201221_MOESM194_ESM.doc"; rdfs:comment "the GSK, MPIP, STAR*D, GAIN, QIMR_317, QIMR_610, and GenRED samples" . _:27312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample for recurrent major depressive disorder, collected with GlaxoSmithKline, of German patients with recurrent moderate or severe major depression recruited at the Max Planck Institute of Psychiatry in Munich and two satellite hospitals in the Munich area (BKH Augsburg and Klinikum Ingolstadt), and age- and sex-matched controls from a Munich community sample screened free of lifetime mood and anxiety disorders, genotyped genome-wide for studies of the genetics of depression."; "PMID:16822851", "PMID:19107115", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2012.21/MediaObjects/41380_2013_BFmp201221_MOESM194_ESM.doc"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 887; "GSK sample cases and controls in the PGC MDD discovery mega-analysis (after QC)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864" . _:27332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 864; "GSK sample cases and controls in the PGC MDD discovery mega-analysis (after QC)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864" . _:27342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1751; "GSK sample cases and controls in the PGC MDD discovery mega-analysis (after QC)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864" . _:27352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSK"; . _:27362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGRD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10760; , ; ; "GCST90568440"; "A longitudinal, population-based study of children from 11 predominantly rural counties of western North Carolina, United States, recruited in 1993 as three cohorts aged 9, 11 and 13 through a two-phase design that screened a random sample of children for behavioural problems and oversampled those with high scores, together with all age-eligible American Indian children of the area. The participants were interviewed annually to age 16 and then repeatedly into adulthood, to study the development of psychiatric and substance use disorders and the need for and use of mental health services."; 1420; "GSMS", "Great Smoky Mountains Study of Youth"; ; rdfs:label "Great Smoky Mountains Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10760 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10760; "psychiatric disorders"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3939681/unicode"; rdfs:comment "The Great Smoky Mountains Study (GSMS) was originally designed to examine the prevalence of common childhood psychiatric disorders, their development over time and use of mental health services in a predominantly rural area of the southeastern United States." . _:27382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8956679%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "A multistage, overlapping cohorts design was used, in which 4500 of the 11758 children aged 9, 11, and 13 years in an 11-county area of the southeastern United States were randomly selected for screening for psychiatric symptoms." . _:27392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "The Great Smoky Mountains Study is a longitudinal, representative study of 1420 children in 11 210 predominantly rural counties in Southeastern United States 21,22 ." . _:273a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal, population-based study of children from 11 predominantly rural counties of western North Carolina, United States, recruited in 1993 as three cohorts aged 9, 11 and 13 through a two-phase design that screened a random sample of children for behavioural problems and oversampled those with high scores, together with all age-eligible American Indian children of the area. The participants were interviewed annually to age 16 and then repeatedly into adulthood, to study the development of psychiatric and substance use disorders and the need for and use of mental health services."; "PMID:23461817", "PMID:24342383", "PMID:8956679"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:273b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1420; "children in the original sample (three cohorts aged 9, 11 and 13 at baseline, including American Indian children), 1993"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3939681/unicode"; rdfs:comment "The original sample of 1,420 children included three cohorts ages 9, 11, and 13 at baseline." . _:273c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10767, _:genid-371333f489424440b12a13b9d98ced822608-genid10769, _:genid-371333f489424440b12a13b9d98ced822608-genid10771, _:genid-371333f489424440b12a13b9d98ced822608-genid10773; , ; "GCST90132298"; "A prospective cohort of patients aged 5 to 85 who presented with acute appendicitis at the emergency department of Jessa Hospital in Hasselt, Belgium, and had an appendectomy, recruited from June 2012 to October 2016 in a study led by Hasselt University with Jessa Hospital and Radboud University Medical Center. Questionnaires on diet, lifestyle and environment were collected together with blood, appendix tissue and stool samples, to study how environmental factors, the innate immune system and its genetic make-up, and the gut microbiota influence the development and severity of acute appendicitis."; 325; "HAPPIEST", "HAPPIEST cohort", "Hasselt APPendicitis Immunologic and Environmental STudy", "Hasselt APPendicitis Immunology and Environmental Cohort STudy"; ; rdfs:label "Hasselt Appendicitis Immunology and Environmental Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10767 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10769 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10771 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10773 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:273d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10767; "acute appendicitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33060696+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aimed at characterizing immune responses towards a large variety of gut commensals and pathogens, and pattern recognition receptor (PRR) ligands, and investigating the course of systemic inflammation in a prospective cohort of acute appendicitis patients." . _:273e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10769; "lifestyle characteristics"; "https://clinicaltrials.gov/api/v2/studies/NCT02391675"; rdfs:comment "In a cohort of 300 patients and 300 controls, environmental factors as well as genetic make-up of the innate immune system, focusing mainly on pattern recognition, will be analyzed in order to gain insight in their relative importance in the pathology of appendicitis." . _:273f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10771; "dietary habits"; "https://clinicaltrials.gov/api/v2/studies/NCT02391675"; rdfs:comment "In a cohort of 300 patients and 300 controls, environmental factors as well as genetic make-up of the innate immune system, focusing mainly on pattern recognition, will be analyzed in order to gain insight in their relative importance in the pathology of appendicitis." . _:27402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10773; "environmental factors"; "https://clinicaltrials.gov/api/v2/studies/NCT02391675"; rdfs:comment "In a cohort of 300 patients and 300 controls, environmental factors as well as genetic make-up of the innate immune system, focusing mainly on pattern recognition, will be analyzed in order to gain insight in their relative importance in the pathology of appendicitis." . _:27412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9174512/fullTextXML"; rdfs:comment "A total of 325 patients were prospectively recruited in the HAPPIEST population at Jessa Hospital, Hasselt, Belgium, between June 2012 and October 2016." . _:27422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132298"; "Impact of Human Genetic Variation on C-Reactive Protein Concentrations and Acute Appendicitis."; "PMID:35693796", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9174512/fullTextXML"; rdfs:comment "A total of 325 patients were prospectively recruited in the HAPPIEST population at Jessa Hospital, Hasselt, Belgium, between June 2012 and October 2016." . _:27432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of patients aged 5 to 85 who presented with acute appendicitis at the emergency department of Jessa Hospital in Hasselt, Belgium, and had an appendectomy, recruited from June 2012 to October 2016 in a study led by Hasselt University with Jessa Hospital and Radboud University Medical Center. Questionnaires on diet, lifestyle and environment were collected together with blood, appendix tissue and stool samples, to study how environmental factors, the innate immune system and its genetic make-up, and the gut microbiota influence the development and severity of acute appendicitis."; "PMID:33060696", "PMID:35693796", "https://clinicaltrials.gov/api/v2/studies/NCT02391675"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 325; "appendicitis patients recruited at Jessa Hospital, June 2012 to October 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9174512/fullTextXML"; rdfs:comment "A total of 325 patients were prospectively recruited in the HAPPIEST population at Jessa Hospital, Hasselt, Belgium, between June 2012 and October 2016." . _:27452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAPPIEST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10780; , , ; ; ; "GCST90090980"; "The breast cancer arm of the Hwasun Cancer Epidemiology Study, a hospital-based case-control study at Chonnam National University Hwasun Hospital, a cancer hospital in Jeollanam-do province, South Korea, that aims to identify factors in cancer development and clinical progression in a Korean population. Its cases are women newly diagnosed with breast cancer at the hospital from April 2004 to February 2013, excluding secondary or recurrent tumours, and its controls are women with no previous cancer drawn at random from the Namwon Study and the Dong-gu Study, community-based cohorts in South Korea."; 3387; 3186; 6573; "HCES-Br"; ; rdfs:label "Hwasun Cancer Epidemiology Study-Breast"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10780 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10780; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "Included in this project were 3,387 female breast 94 cancer cases, who were newly diagnosed between April 2004 and February 2013 at 95 Chonnam National University Hwasun Hospital, a cancer specified hospital in 96 Jeollanam-do province, South Korea." . _:27472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "Included in this project were 3,387 female breast 94 cancer cases, who were newly diagnosed between April 2004 and February 2013 at 95 Chonnam National University Hwasun Hospital, a cancer specified hospital in 96 Jeollanam-do province, South Korea." . _:27482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15046-w/MediaObjects/41467_2020_15046_MOESM1_ESM.pdf"; rdfs:comment "The Hwasun Cancer Epidemiology Study (HCES-Br) is a hospital-based case-control 92 study whose goal is to identify factors of the cancer development and clinical 93 progression in a Korean population.6,7 Included in this project were 3,387 female breast 94 cancer cases, who were newly diagnosed between April 2004 and February 2013 at 95 Chonnam National University Hwasun Hospital, a cancer specified hospital in 96 Jeollanam-do province, South Korea." . _:27492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90090980"; "Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants."; "PMID:32139696", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "The Hwasun Cancer Epidemiology Study (HCES-Br) is a hospital-based case-control 92 study whose goal is to identify factors of the cancer development and clinical 93 progression in a Korean population." . _:274a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The breast cancer arm of the Hwasun Cancer Epidemiology Study, a hospital-based case-control study at Chonnam National University Hwasun Hospital, a cancer hospital in Jeollanam-do province, South Korea, that aims to identify factors in cancer development and clinical progression in a Korean population. Its cases are women newly diagnosed with breast cancer at the hospital from April 2004 to February 2013, excluding secondary or recurrent tumours, and its controls are women with no previous cancer drawn at random from the Namwon Study and the Dong-gu Study, community-based cohorts in South Korea."; "PMID:32139696"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:274b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3387; "breast cancer cases and controls in HCES-Br (2013)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4127632/unicode"; rdfs:comment "Korean participants came from five studies: the Seoul Breast Cancer Study (SeBCS) (n = 6,179), the Hwasun Cancer Epidemiology Study-Breast (HCES-Br) (n = 6,573), the Korea Genome Epidemiology Study (KoGES; n = 3,209), the Korean Hereditary Breast Cancer study (KOHBRA; n = 1,397), and the Korean National Cancer Center (n = 1,009)." . _:274c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3186; "breast cancer cases and controls in HCES-Br (2013)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4127632/unicode"; rdfs:comment "Korean participants came from five studies: the Seoul Breast Cancer Study (SeBCS) (n = 6,179), the Hwasun Cancer Epidemiology Study-Breast (HCES-Br) (n = 6,573), the Korea Genome Epidemiology Study (KoGES; n = 3,209), the Korean Hereditary Breast Cancer study (KOHBRA; n = 1,397), and the Korean National Cancer Center (n = 1,009)." . _:274d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6573; "breast cancer cases and controls in HCES-Br (2013)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4127632/unicode"; rdfs:comment "Korean participants came from five studies: the Seoul Breast Cancer Study (SeBCS) (n = 6,179), the Hwasun Cancer Epidemiology Study-Breast (HCES-Br) (n = 6,573), the Korea Genome Epidemiology Study (KoGES; n = 3,209), the Korean Hereditary Breast Cancer study (KOHBRA; n = 1,397), and the Korean National Cancer Center (n = 1,009)." . _:274e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCES-Br"; . a owl:NamedIndividual, ; , ; "GCST90002310"; "A cross-sectional population-based study of the Research Centre for Prevention and Health in Glostrup, Denmark, conducted in 2008–2009 on a random sample of men and women aged 30–60, drawn from the Danish Central Personal Register, living in the western part of the Copenhagen area; pregnant women and people with known diabetes, cardiovascular disease, chronic obstructive pulmonary disease, hypertension or a history of blood clots, or unable to do physical activities such as climbing stairs, were excluded. The examination included questionnaires, clinical and biochemical measurements, an oral glucose tolerance test and two tests estimating maximal oxygen uptake."; 795; "Health 2008 study", "Health2008", "Health2008 cohort"; ; rdfs:label "Health2008 Study"@en . _:274f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22587629%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "The study comprised 771 participants from the Danish, population-based cross-sectional 'Health2008' study." . _:27502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002310"; "Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations."; "PMID:32888493", "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "Health2008" . _:27512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional population-based study of the Research Centre for Prevention and Health in Glostrup, Denmark, conducted in 2008–2009 on a random sample of men and women aged 30–60, drawn from the Danish Central Personal Register, living in the western part of the Copenhagen area; pregnant women and people with known diabetes, cardiovascular disease, chronic obstructive pulmonary disease, hypertension or a history of blood clots, or unable to do physical activities such as climbing stairs, were excluded. The examination included questionnaires, clinical and biochemical measurements, an oral glucose tolerance test and two tests estimating maximal oxygen uptake."; "PMID:22587629", "PMID:23022702", "PMID:26372449"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 795; "participants examined 2008-2009 (of 2218 invited)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4570778/fullTextXML"; rdfs:comment "Thus, a total of 795 participated (participation rate 36%)." . _:27532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health2008"; . a owl:NamedIndividual, ; , ; "GCST90002310"; "A population-based study of the Research Centre for Prevention and Health in Glostrup, Denmark, begun in 2010, which examined a random sample of adults aged 18–69, drawn from the Danish Central Personal Register, living in the western part of the Capital Region of Denmark, with questionnaires, a clinical examination and blood samples, focusing on cardiovascular disease, diabetes, asthma and allergy."; 1522; "Health2010", "Health2010 cohort"; ; rdfs:label "Health2010 Study"@en . _:27542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12405901/supplementaryFiles"; rdfs:comment "Health2010 study was conducted between 2010-2011 and included a random sample aged 18-69 years and living in the western part of the capital region of Denmark." . _:27552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002310"; "Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations."; "PMID:32888493", "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "Health2010" . _:27562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of the Research Centre for Prevention and Health in Glostrup, Denmark, begun in 2010, which examined a random sample of adults aged 18–69, drawn from the Danish Central Personal Register, living in the western part of the Capital Region of Denmark, with questionnaires, a clinical examination and blood samples, focusing on cardiovascular disease, diabetes, asthma and allergy."; "PMID:26372449", "PMID:40490135"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1522; "participants examined 2010-2012 (of 3732 invited)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4570778/fullTextXML"; rdfs:comment "A total of 1522 persons participated which meant a 40.5% participation rate [23]." . _:27582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health2010"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10800, _:genid-371333f489424440b12a13b9d98ced822608-genid10802; , , ; ; "GCST90281031", "PGS000658"; "A prospective register of patients with diabetes, with a biobank, established in 1995 by the Chinese University of Hong Kong at its teaching hospital, the Prince of Wales Hospital, as a research-driven quality-improvement programme. Patients referred by hospital specialty clinics, community clinics and general practitioners to the hospital's Diabetes Mellitus and Endocrine Centre were enrolled consecutively for a structured assessment of complications and metabolic control and then followed until death, to study the risk factors, complications and outcomes of diabetes."; 10129; "HKDR", "Hong Kong Diabetes Registry", "PoWHDR", "Prince of Wales Hospital Diabetes Registry"; , ; rdfs:label "Hong Kong Diabetes Register"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10800 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10800; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7386560/fullTextXML"; rdfs:comment "We investigated glycemic progression among 7,091 Chinese patients with T2D from the Hong Kong Diabetes Register enrolled between 1995 and 2007." . _:275a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10802; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7386560/fullTextXML"; rdfs:comment "We investigated glycemic progression among 7,091 Chinese patients with T2D from the Hong Kong Diabetes Register enrolled between 1995 and 2007." . _:275b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10234754/fullTextXML"; rdfs:comment "All patients in the above three cohorts were southern Han Chinese residing in Hong Kong." . _:275c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281031"; "Identification of a Common Variant for Coronary Heart Disease at PDE1A Contributes to Individualized Treatment Goals and Risk Stratification of Cardiovascular Complications in Chinese Patients With Type 2 Diabetes."; "PMID:37125963", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10234754/fullTextXML"; rdfs:comment "In the stage of genome-wide scan, we performed a meta-analysis in two independent case-control cohorts of Chinese patients with T2D: 1) 4,886 patients (1,358 case and 3,528 control subjects) from the Hong Kong Diabetes Register (HKDR) (recruitment period 1995–2014) and 2) 4,055 patients (1,159 case and 2,896 control subjects) recruited in 2013–2019 from the Hong Kong Diabetes Biobank (HKDB) phase 1 study (16)." . _:275d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000658"; "Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians."; "PMID:33608049" . _:275e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective register of patients with diabetes, with a biobank, established in 1995 by the Chinese University of Hong Kong at its teaching hospital, the Prince of Wales Hospital, as a research-driven quality-improvement programme. Patients referred by hospital specialty clinics, community clinics and general practitioners to the hospital's Diabetes Mellitus and Endocrine Centre were enrolled consecutively for a structured assessment of complications and metabolic control and then followed until death, to study the risk factors, complications and outcomes of diabetes."; "PMID:32722720", "PMID:40171472"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:275f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10129; "consecutive patients with diabetes assessed 1995 to end of 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7386560/fullTextXML"; rdfs:comment "Between 1995 and December 31, 2007, a consecutive cohort consisting of 10,129 patients with diabetes was assessed." . _:27602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKDR"; . _:27612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PoWHDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10811; , ; , ; ; "GCST90664511"; "A pan-Canadian databank set up in 2020 by CGEn, Canada's national platform for genome sequencing and analysis, within Genome Canada's Canadian COVID-19 Genomics Network, that brings together independent clinical and epidemiological studies enrolling people of any age infected with SARS-CoV-2 across Canada. Each partner study contributes blood (rarely saliva) samples for whole-genome sequencing at the CGEn centres and clinical information on a standard case report form, creating a resource for research on host genetic factors in SARS-CoV-2 infection and COVID-19 outcomes."; 10059; "CGEn HostSeq Initiative", "HostSeq", "HostSeq Databank", "HostSeq project"; ; rdfs:label "HostSeq initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10811 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10811; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38517939+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HostSeq initiative recruited 10,059 Canadians infected with SARS-CoV-2 between March 2020 and March 2023, obtained clinical information on their disease experience and whole genome sequenced (WGS) their DNA." . _:27632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10990181/unicode"; rdfs:comment "For the leave-one-out study subsets we chose the BQC19 and GenOMICC studies to be sequentially excluded, because BQC19 is the largest study within HostSeq and accounts for more than half of the cases in HostSeq, and GenOMICC is the most restricted study in terms of recruitment and predominantly consists of hospitalized cases." . _:27642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10990181/unicode"; rdfs:comment "For the leave-one-out study subsets we chose the BQC19 and GenOMICC studies to be sequentially excluded, because BQC19 is the largest study within HostSeq and accounts for more than half of the cases in HostSeq, and GenOMICC is the most restricted study in terms of recruitment and predominantly consists of hospitalized cases." . _:27652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38517939+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HostSeq initiative recruited 10,059 Canadians infected with SARS-CoV-2 between March 2020 and March 2023, obtained clinical information on their disease experience and whole genome sequenced (WGS) their DNA." . _:27662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90664511"; "Canadian COVID-19 host genetics cohort replicates known severity associations."; "PMID:38517939", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38517939+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HostSeq initiative recruited 10,059 Canadians infected with SARS-CoV-2 between March 2020 and March 2023, obtained clinical information on their disease experience and whole genome sequenced (WGS) their DNA." . _:27672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pan-Canadian databank set up in 2020 by CGEn, Canada's national platform for genome sequencing and analysis, within Genome Canada's Canadian COVID-19 Genomics Network, that brings together independent clinical and epidemiological studies enrolling people of any age infected with SARS-CoV-2 across Canada. Each partner study contributes blood (rarely saliva) samples for whole-genome sequencing at the CGEn centres and clinical information on a standard case report form, creating a resource for research on host genetic factors in SARS-CoV-2 infection and COVID-19 outcomes."; "PMID:37131148", "PMID:38517939"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10059; "SARS-CoV-2-infected Canadians recruited and whole-genome sequenced by the 15 contributing studies, 2020-2023"; "PMID:38517939"; rdfs:comment "The HostSeq initiative recruited 10,059 Canadians infected with SARS-CoV-2 between March 2020 and March 2023, obtained clinical information on their disease experience and whole genome sequenced (WGS) their DNA." . _:27692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HostSeq"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10820; , , , ; "GCST90013445"; "A multinational longitudinal cohort of children and adolescents under 16 with newly diagnosed type 1 diabetes, recruited from August 1999 to December 2000 at 18 paediatric departments in 15 countries of Europe and Japan by the Hvidoere Study Group on Childhood Diabetes, an international group of paediatric diabetes centres, and followed through the first 12 months after diagnosis with meal-stimulated C-peptide tests, HbA1c, insulin doses, islet autoantibodies and HLA typing, to study residual beta-cell function and the partial remission period."; 275; "HSG", "HSG remission phase cohort", "Hvidoere Study Group on Childhood Diabetes", "Hvidoere Study Group on Childhood Diabetes remission phase cohort"; ; rdfs:label "Hvidoere Remission Phase Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10820 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:276a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10820; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19435955+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 275 patients aged <16 years were followed from onset of type 1 diabetes." . _:276b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2713624/fullTextXML"; rdfs:comment "The study was a multicenter longitudinal investigation in 18 pediatric departments representing 15 countries in Europe and Japan." . _:276c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "These studies include the Type 1 Diabetes Genetics Consortium (T1DGC), British 1958 Birth Cohort, Genetic Resource Investigating Diabetes (GRID), Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis (CLEAR), Epidemiology of Diabetes Interventions and Complications (EDIC), Genetics of Kidneys and Diabetes Study (GoKinD), New York Cancer Project (NYCP), SEARCH for Diabetes in Youth study (SEARCH), Type 1 Diabetes TrialNet study (TrialNet), Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen (IDDMGEN), Tyypin 1 Diabeteksen Genetiikka (T1DGEN), Northern Ireland GRID Collection, Northern Ireland Young Hearts Project, Hvidoere Study Group on Childhood Diabetes (HSG), and International HapMap Project." . _:276d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational longitudinal cohort of children and adolescents under 16 with newly diagnosed type 1 diabetes, recruited from August 1999 to December 2000 at 18 paediatric departments in 15 countries of Europe and Japan by the Hvidoere Study Group on Childhood Diabetes, an international group of paediatric diabetes centres, and followed through the first 12 months after diagnosis with meal-stimulated C-peptide tests, HbA1c, insulin doses, islet autoantibodies and HLA typing, to study residual beta-cell function and the partial remission period."; "PMID:19435955", "PMID:19708904", "PMID:21429197", "PMID:33203694"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:276e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 275; "children and adolescents with newly diagnosed type 1 diabetes enrolled 1999-2000"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2713624/fullTextXML"; rdfs:comment "A total of 275 children and adolescents aged <16 years with newly diagnosed type 1 diabetes presenting to the pediatric departments between August 1999 and December 2000 were included in the study." . _:276f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSG"; . a owl:NamedIndividual, ; , ; ; "GCST90271557"; "The second survey of the HUNT Study, conducted in 1995–97, to which all residents of Nord-Trøndelag, Norway, aged 20 or over were invited for questionnaires, interviews, a clinical examination and biological sampling. Its participants have consented to linkage with Norwegian health and administrative registries, and many of them have been genotyped."; 65228; "HUNT 2", "HUNT2", "HUNT2 survey"; ; rdfs:label "Nord-Trøndelag Health Study 1995–97"@en . _:27702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908054/fullTextXML"; rdfs:comment "In the HUNT Study, all residents aged ≥20 years in the Nord-Trøndelag region, Norway, have been invited to repeated surveys since 1984-86." . _:27712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908054/fullTextXML"; rdfs:comment "All current residents ≥20 years of age in Nord-Trøndelag have been invited to each survey wave: the HUNT1 (1984–86, 77 202 participants, 89.4% of invitees participated),1 HUNT2 (1995-97, 65 228 participants, 69.5%)2 and HUNT3 (2006-08, 50 800 participants, 54.1%)3 surveys (Figure 1)." . _:27722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271557"; "GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification."; "PMID:37679419", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01462-3/MediaObjects/41588_2023_1462_MOESM6_ESM.xlsx"; rdfs:comment "The HUNT: Nord-Trøndelag Health Study 1995-97 (HUNT 2):Objectives, contents, methods and participation." . _:27732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The second survey of the HUNT Study, conducted in 1995–97, to which all residents of Nord-Trøndelag, Norway, aged 20 or over were invited for questionnaires, interviews, a clinical examination and biological sampling. Its participants have consented to linkage with Norwegian health and administrative registries, and many of them have been genotyped."; "PMID:35578897"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 65228; "adults aged 20 or over who took part in the HUNT2 survey, 1995-97"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908054/fullTextXML"; rdfs:comment "All current residents ≥20 years of age in Nord-Trøndelag have been invited to each survey wave: the HUNT1 (1984–86, 77 202 participants, 89.4% of invitees participated),1 HUNT2 (1995-97, 65 228 participants, 69.5%)2 and HUNT3 (2006-08, 50 800 participants, 54.1%)3 surveys (Figure 1)." . _:27752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUNT 2"; . _:27762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUNT2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10834, _:genid-371333f489424440b12a13b9d98ced822608-genid10836; , ; ; "GCST90270120"; "A population-based sleep cohort nested in the CoLaus/PsyCoLaus study of Lausanne, Switzerland: consecutive participants of CoLaus/PsyCoLaus's first follow-up (2009–12), who also answered sleep questionnaires and had clinical and biological phenotyping, were invited from September 2009 to June 2013 to a full polysomnography at home, organised from the sleep centre of Lausanne University Hospital, to study the prevalence and determinants of sleep disorders such as sleep-disordered breathing and their links with cardiometabolic and mental health. Participants were re-examined at the cohort's second follow-up in 2014–17."; 2162; "HypnoLaus", "HypnoLaus Study", "HypnoLaus cohort"; ; rdfs:label "HypnoLaus Sleep Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10834 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10836 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10834; "sleep-disordered breathing"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25682233+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Taking into account improvements in recording techniques and new criteria used to define respiratory events, we aimed to assess the prevalence of sleep-disordered breathing and associated clinical features in a large population-based sample." . _:27782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10836; "sleep disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25682233+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Taking into account improvements in recording techniques and new criteria used to define respiratory events, we aimed to assess the prevalence of sleep-disordered breathing and associated clinical features in a large population-based sample." . _:27792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6509728/fullTextXML"; rdfs:comment "HypnoLaus is a population‐based sleep cohort study conducted in Lausanne, Switzerland." . _:277a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6509728/fullTextXML"; rdfs:comment "The HypnoLaus study was performed between September 1, 2009 and June 30, 2013, and participants were recruited among the CoLaus/PsyCoLaus study." . _:277b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270120"; "The genetic etiology of periodic limb movement in sleep."; "PMID:35670608", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35670608+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Replication in the HypnoLaus and MESA cohorts (1002 cases) preceded joint meta-analysis." . _:277c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based sleep cohort nested in the CoLaus/PsyCoLaus study of Lausanne, Switzerland: consecutive participants of CoLaus/PsyCoLaus's first follow-up (2009–12), who also answered sleep questionnaires and had clinical and biological phenotyping, were invited from September 2009 to June 2013 to a full polysomnography at home, organised from the sleep centre of Lausanne University Hospital, to study the prevalence and determinants of sleep disorders such as sleep-disordered breathing and their links with cardiometabolic and mental health. Participants were re-examined at the cohort's second follow-up in 2014–17."; "PMID:25682233", "PMID:30898062", "PMID:35861817"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:277d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2162; "CoLaus/PsyCoLaus participants with a complete home polysomnography, 2009-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9707830/fullTextXML"; rdfs:comment "Of the 2162 participants included in HypnoLaus, 1172 who had hypertension at baseline with complete polysomnography and known hypertension status at follow‐up were included in this analysis (Figure 2)." . _:277e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HypnoLaus"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10844; , ; "GCST90624430"; "A French prospective multicentre cohort, sponsored by Assistance Publique – Hôpitaux de Paris, of women of European ancestry aged over 18 who gave birth in eight maternity departments of the Paris metropolitan area and were included two to five days after delivery between November 2011 and June 2016. The women gave a blood sample for DNA and were assessed for depression by trained clinicians with DSM-5 criteria at inclusion, at 8 weeks and at 1 year postpartum, to study how genetic factors and maternal stressors interact in the risk of postpartum depression."; 3310; "IGEDEPP", "Interaction Between Genetic Factors and Maternal Stressors During Pregnancy in the Risk of Postpartum Depression", "Interaction of Gene and Environment of Depression in PostPartum", "interaction of gene and environment of depression during postpartum"; ; rdfs:label "Interaction of Gene and Environment of Depression during PostPartum"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10844 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:277f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10844; "postpartum depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33932643+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "IGEDEPP (Interaction of Gene and Environment of Depression during PostPartum) is a prospective multicenter cohort study of 3310 Caucasian women who gave birth between 2011 and 2016, with follow-up until one year postpartum." . _:27802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11059250/fullTextXML"; rdfs:comment "Our study among the interaction of gene and environment of depression during postpartum (IGEDEPP) women, in the Paris areas (France), showed 1-year cumulative incidence of PPD of 18.1%, a prevalence of early-onset PPD of 8.3%, and a prevalence of late-onset PPD of 12.9% [6], in line with previous works [7]." . _:27812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624430"; "Genome-wide association study of early-onset and late-onset postpartum depression: the IGEDEPP prospective study."; "PMID:38555957", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11059250/fullTextXML"; rdfs:comment "With the French multicenter interaction of gene and environment of depression during postpartum (IGEDEPP) cohort, we conducted a genome-wide association study (GWAS) on 234 women with early-onset PPD and 223 women with late-onset PPD, as well as 1,204 controls with no history of lifetime depression." . _:27822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French prospective multicentre cohort, sponsored by Assistance Publique – Hôpitaux de Paris, of women of European ancestry aged over 18 who gave birth in eight maternity departments of the Paris metropolitan area and were included two to five days after delivery between November 2011 and June 2016. The women gave a blood sample for DNA and were assessed for depression by trained clinicians with DSM-5 criteria at inclusion, at 8 weeks and at 1 year postpartum, to study how genetic factors and maternal stressors interact in the risk of postpartum depression."; "PMID:33932643", "PMID:38555957", "https://clinicaltrials.gov/api/v2/studies/NCT01648816"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3310; "women included after delivery, 2011-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33932643+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BackgroundIGEDEPP (Interaction of Gene and Environment of Depression during PostPartum) is a prospective multicenter cohort study of 3310 Caucasian women who gave birth between 2011 and 2016, with follow-up until one year postpartum." . _:27842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IGEDEPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10851; , ; "GCST90568440"; "A school-based cohort of children and adolescents aged 5–17 from primary and secondary general-education schools across Catalonia, Spain, set up to study neurodevelopmental disorders, school performance and their genetic and environmental factors. Since the 2011–2012 school year, parents and teachers complete screening questionnaires for mental health problems and learning difficulties, children who screen positive are assessed by psychiatrists and neuropsychologists for DSM diagnoses, academic marks are taken from school records, and DNA is collected from saliva or buccal swabs."; 9018; "INSchool", "INSchool cohort"; ; rdfs:label "Impact of Neurodevelopmental disorders and School performance: genes and environment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10851 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10851; "neurodevelopmental disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41554769+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Children who screened positive were interviewed for diagnostic confirmation according to the Diagnostic and Statistical Manual of Mental Disorders, while students who screened negative served as controls." . _:27862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12820112/fullTextXML"; rdfs:comment "The study sample was drawn from 77 general education schools in Catalonia, Spain, as part of the INSchool cohort, a larger, ongoing research." . _:27872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "The INSchool cohort consist of 3, 557 children from 23 schools in Catalonia (age range: 5-17 years; 234 mean age: 9.8 years, s.d.=2.9)." . _:27882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A school-based cohort of children and adolescents aged 5–17 from primary and secondary general-education schools across Catalonia, Spain, set up to study neurodevelopmental disorders, school performance and their genetic and environmental factors. Since the 2011–2012 school year, parents and teachers complete screening questionnaires for mental health problems and learning difficulties, children who screen positive are assessed by psychiatrists and neuropsychologists for DSM diagnoses, academic marks are taken from school records, and DNA is collected from saliva or buccal swabs."; "PMID:38783053", "PMID:40962958", "PMID:41554769"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9018; "analysed subset: students screening negative or with a confirmed neurodevelopmental diagnosis, with school marks (77 schools)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41554769+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The final sample comprised 9018 participants aged 5-17." . _:278a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INSchool"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10858; , , ; "GCST90728616"; "A multicentre patient registry established in Japan in 2006 to register and follow up patients with amyotrophic lateral sclerosis across many participating institutions, collecting DNA samples and clinical data with periodic telephone follow-up to study the natural history, genetic background and prognosis of ALS."; 905; "JaCALS", "Japanese Consortium for ALS research", "Japanese Consortium for Amyotrophic Lateral Sclerosis", "Japanese Consortium for Amyotrophic Lateral Sclerosis Research", "Japanese consortium for amyotrophic lateral sclerosis research"; ; rdfs:label "Japanese Consortium for Amyotrophic Lateral Sclerosis research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10858 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:278b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10858; "amyotrophic lateral sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12680644/fullTextXML"; rdfs:comment "The JaCALS registry is a multicenter patient registry for ALS involving 42 institutions across Japan." . _:278c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31722307+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In Japan, a multicenter registration and follow-up system called the Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) was built in 2006." . _:278d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90728616"; "A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS."; "PMID:41350806", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12680644/fullTextXML"; rdfs:comment "The GWAS discovery phase included 2087 Japanese patients with ALS who were enrolled in the Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS) registry." . _:278e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre patient registry established in Japan in 2006 to register and follow up patients with amyotrophic lateral sclerosis across many participating institutions, collecting DNA samples and clinical data with periodic telephone follow-up to study the natural history, genetic background and prognosis of ALS."; "PMID:31722307", "PMID:41350806"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:278f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 905; "ALS patients registered in the JaCALS registry (30 institutions), 2014"; "PMID:25200580"; rdfs:comment "Currently, 30 neurology institutions are participating in the JaCALS, and 905 patients with ALS are registered." . _:27902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JaCALS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10865; , ; ; "GCST90274716"; "A nested case-control genome-wide association study of prostate cancer in Japanese American men of the Multiethnic Cohort Study in Hawaii and California. Incident cases found by linkage to the SEER cancer registries, and controls matched on ethnicity, area of residence and age, were genotyped on the Illumina Human660W array at the Broad Institute as the Japanese component of the Multiethnic Genome-wide Scan of Prostate Cancer (GENEVA), to search for prostate cancer risk variants in Japanese men."; 1033; 1042; 2075; "JAPC"; ; rdfs:label "JAPC GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10865 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10865; "prostate cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3494732/unicode"; rdfs:comment "Briefly, incident prostate cancer cases were identified by cohort linkage to Surveillance, Epidemiology and End Results cancer registries covering Hawaii and California." . _:27922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3494732/unicode"; rdfs:comment "Briefly, incident prostate cancer cases were identified by cohort linkage to Surveillance, Epidemiology and End Results cancer registries covering Hawaii and California." . _:27932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8148035/fullTextXML"; rdfs:comment "GWAS of prostate cancer in Latinos (LAPC GWAS) and Japanese (JAPC GWAS) in the Multiethnic Cohort Study (MEC)" . _:27942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274716"; "Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants."; "PMID:37945903", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01534-4/MediaObjects/41588_2023_1534_MOESM4_ESM.xlsx"; rdfs:comment "Asian Ancestry Studies JAPC GWAS Asian" . _:27952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control genome-wide association study of prostate cancer in Japanese American men of the Multiethnic Cohort Study in Hawaii and California. Incident cases found by linkage to the SEER cancer registries, and controls matched on ethnicity, area of residence and age, were genotyped on the Illumina Human660W array at the Broad Institute as the Japanese component of the Multiethnic Genome-wide Scan of Prostate Cancer (GENEVA), to search for prostate cancer risk variants in Japanese men."; "PMID:22923026", "PMID:33398198", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000306.v4.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1033; "Japanese American prostate cancer cases and controls in the final GWAS analysis (2008)"; "https://europepmc.org/api/getPdf?pmcid=PMC3494732"; rdfs:comment "The final analysis included 528,023 SNPs evaluated in 2,075 Japanese and 2,100 Latinos." . _:27972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1042; "Japanese American prostate cancer cases and controls in the final GWAS analysis (2008)"; "https://europepmc.org/api/getPdf?pmcid=PMC3494732"; rdfs:comment "The final analysis included 528,023 SNPs evaluated in 2,075 Japanese and 2,100 Latinos." . _:27982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2075; "Japanese American prostate cancer cases and controls in the final GWAS analysis (2008)"; "https://europepmc.org/api/getPdf?pmcid=PMC3494732"; rdfs:comment "The final analysis included 528,023 SNPs evaluated in 2,075 Japanese and 2,100 Latinos." . _:27992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JAPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10875; , , ; "GCST90809879"; "A multisite, population-based prospective cohort study of dementia, coordinated from Kyushu University. Community-dwelling residents aged 65 years or older at eight research sites across Japan (Hirosaki, Yahaba, Nakajima, Arakawa, Ama, Nakayama, Hisayama and Arao) were examined in 2016–2018 under a common standardized protocol, including questionnaires, cognitive assessment, blood tests, brain MRI and DNA samples, and are followed up for incident dementia, to study environmental and genetic risk factors for dementia and their interaction."; 11410; "JPSC-AD"; ; rdfs:label "Japan Prospective Studies Collaboration for Aging and Dementia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10875 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:279a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10875; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33129280+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) is a multisite, population-based prospective cohort study of dementia, which was designed to enroll approximately 10,000 community-dwelling residents aged 65 years or older from 8 sites in Japan and to follow them up prospectively for at least 5 years." . _:279b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33129280+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) is a multisite, population-based prospective cohort study of dementia, which was designed to enroll approximately 10,000 community-dwelling residents aged 65 years or older from 8 sites in Japan and to follow them up prospectively for at least 5 years." . _:279c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90809879"; "Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities."; "PMID:41554961", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41554961+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we conducted a GWAS comprising 1001 Japanese individuals from the National Center for Geriatrics and Gerontology (NCGG) Biobank, followed by a meta-analysis with GWAS data from 9479 individuals in the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD), identifying three novel loci significantly associated with WMH volume (P -8)." . _:279d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multisite, population-based prospective cohort study of dementia, coordinated from Kyushu University. Community-dwelling residents aged 65 years or older at eight research sites across Japan (Hirosaki, Yahaba, Nakajima, Arakawa, Ama, Nakayama, Hisayama and Arao) were examined in 2016–2018 under a common standardized protocol, including questionnaires, cognitive assessment, blood tests, brain MRI and DNA samples, and are followed up for incident dementia, to study environmental and genetic risk factors for dementia and their interaction."; "PMID:33129280"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:279e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11410; "community-dwelling residents aged 65 or over who took part in the 2016-2018 baseline survey at 8 sites"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7603740/fullTextXML"; rdfs:comment "A total of 11,410 individuals aged 65 years or older participated in the study." . _:279f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JPSC-AD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10882, _:genid-371333f489424440b12a13b9d98ced822608-genid10884, _:genid-371333f489424440b12a13b9d98ced822608-genid10886, _:genid-371333f489424440b12a13b9d98ced822608-genid10888; , , ; "GCST90448927"; "A nationwide Korean survey population of all ages, set up in 2010 by the National Institute of Food and Drug Safety Evaluation as the first integrated assessment of dietary exposure to hazardous substances from food, herbal medicine and functional food. Adults were drawn by region-, sex- and age-stratified probability sampling from 102 town and township clusters in 15 metropolitan areas and provinces, and children, adolescents and mothers were recruited through schools, kindergartens, health centres and hospitals. All were surveyed in 2010–2011 with food frequency and 24-hour recall questionnaires, blood and urine biomonitoring, and health examinations."; 4867; "KRIEFS", "Korean research project on the integrated exposure assessment of hazardous substances for food safety"; ; rdfs:label "Korean Research Project on the Integrated Exposure Assessment of Hazardous Substances for Food Safety"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10882 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10884 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10886 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10888 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10882; "cadmium (Cd)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4509523/fullTextXML"; rdfs:comment "KRIEFS was the first survey in Korea to conduct a nationwide integrated dietary exposure assessment on hazardous substances in people of all ages." . _:27a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10884; "mercury (Hg)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4509523/fullTextXML"; rdfs:comment "KRIEFS was the first survey in Korea to conduct a nationwide integrated dietary exposure assessment on hazardous substances in people of all ages." . _:27a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10886; "lead (Pb)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4509523/fullTextXML"; rdfs:comment "KRIEFS was the first survey in Korea to conduct a nationwide integrated dietary exposure assessment on hazardous substances in people of all ages." . _:27a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10888; "dietary exposure to hazardous substances"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4509523/fullTextXML"; rdfs:comment "KRIEFS was the first survey in Korea to conduct a nationwide integrated dietary exposure assessment on hazardous substances in people of all ages." . _:27a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4509523/fullTextXML"; rdfs:comment "KRIEFS was the first survey in Korea to conduct a nationwide integrated dietary exposure assessment on hazardous substances in people of all ages." . _:27a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90448927"; "Association between urinary arsenic concentration and genetic polymorphisms in Korean adults."; "PMID:38223675", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10786758/"; rdfs:comment "This study’s participants were based on a population of 2144 individuals selected during 2010–2011 by the Korean Research Project on the Integrated Exposure Assessment of Hazardous Substances for Food Safety (KRIEFS)." . _:27a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide Korean survey population of all ages, set up in 2010 by the National Institute of Food and Drug Safety Evaluation as the first integrated assessment of dietary exposure to hazardous substances from food, herbal medicine and functional food. Adults were drawn by region-, sex- and age-stratified probability sampling from 102 town and township clusters in 15 metropolitan areas and provinces, and children, adolescents and mothers were recruited through schools, kindergartens, health centres and hospitals. All were surveyed in 2010–2011 with food frequency and 24-hour recall questionnaires, blood and urine biomonitoring, and health examinations."; "PMID:26184046"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4867; "subjects of all ages surveyed in 2010-2011 (adults, children, adolescents and mothers)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4509523/fullTextXML"; rdfs:comment "The children’s samples were pair collected with the mothers (whenever possible).During 2010 and 2011, 4867 subjects were surveyed." . _:27a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KRIEFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10895; , ; ; "GCST90274717"; "A nested case-control genome-wide association study of prostate cancer in Latino men of the Multiethnic Cohort Study in Hawaii and California. Incident cases found by linkage to the SEER cancer registries, and controls matched on ethnicity, area of residence and age, were genotyped on the Illumina Human660W array at the Broad Institute as the Latino component of the Multiethnic Genome-wide Scan of Prostate Cancer (GENEVA), to search for prostate cancer risk variants in Latinos."; 1043; 1057; 2100; "LAPC"; ; rdfs:label "LAPC GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10895 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10895; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "Incident Latino PrCa cases were identified by linking with the cancer registries in Hawaii and California." . _:27aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "In brief, the MEC is a large population‐based cohort study including 215,251 men and women recruited from Hawaii and California between 1993 and 1996." . _:27ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8148035/fullTextXML"; rdfs:comment "GWAS of prostate cancer in Latinos (LAPC GWAS) and Japanese (JAPC GWAS) in the Multiethnic Cohort Study (MEC)" . _:27ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274717"; "Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants."; "PMID:37945903", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01534-4/MediaObjects/41588_2023_1534_MOESM4_ESM.xlsx"; rdfs:comment "Latino Ancestry Studies LAPC GWAS Latino" . _:27ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control genome-wide association study of prostate cancer in Latino men of the Multiethnic Cohort Study in Hawaii and California. Incident cases found by linkage to the SEER cancer registries, and controls matched on ethnicity, area of residence and age, were genotyped on the Illumina Human660W array at the Broad Institute as the Latino component of the Multiethnic Genome-wide Scan of Prostate Cancer (GENEVA), to search for prostate cancer risk variants in Latinos."; "PMID:22923026", "PMID:31226226", "PMID:33398198", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000306.v4.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1043; "Latino prostate cancer cases and controls in the final GWAS analysis (2008)"; "https://europepmc.org/api/getPdf?pmcid=PMC3494732"; rdfs:comment "The final analysis included 528,023 SNPs evaluated in 2,075 Japanese and 2,100 Latinos." . _:27af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1057; "Latino prostate cancer cases and controls in the final GWAS analysis (2008)"; "https://europepmc.org/api/getPdf?pmcid=PMC3494732"; rdfs:comment "The final analysis included 528,023 SNPs evaluated in 2,075 Japanese and 2,100 Latinos." . _:27b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2100; "Latino prostate cancer cases and controls in the final GWAS analysis (2008)"; "https://europepmc.org/api/getPdf?pmcid=PMC3494732"; rdfs:comment "The final analysis included 528,023 SNPs evaluated in 2,075 Japanese and 2,100 Latinos." . _:27b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10905; , ; "GCST90281037"; "A randomised, double-blind, placebo-controlled delayed-start trial of patients aged 30 or over whose Parkinson's disease had been diagnosed within the previous two years and did not yet need medication. They were recruited between August 2011 and May 2016 through academic and community hospitals across the Netherlands, with the Academic Medical Center in Amsterdam as the coordinating centre. Patients received levodopa/carbidopa for 80 weeks, or placebo for 40 weeks followed by levodopa/carbidopa for 40 weeks, with follow-up visits at 3 and 5 years, to test whether starting levodopa early modifies the course of the disease."; 446; "LEAP", "Levodopa in EArly Parkinson's Disease", "Levodopa in EArly Parkinson's disease", "Levodopa in Early Parkinson's disease"; ; rdfs:label "Levodopa in Early Parkinson's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10905 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10905; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26584951+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients with early stage PD whose functional health does not yet necessitate initiation of PD-medication will be randomised to either 40 weeks of treatment with levodopa/carbidopa 100/25 mg TID including 2 weeks of dose escalation or to 40 weeks placebo TID." . _:27b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4653886/fullTextXML"; rdfs:comment "Seven academic hospitals and 43 community hospitals in the Netherlands are recruiting patients." . _:27b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281037"; "Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia."; "PMID:39132902", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11490412/"; rdfs:comment "LEAP: Levodopa in Early Parkinson's Disease, Netherlands" . _:27b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled delayed-start trial of patients aged 30 or over whose Parkinson's disease had been diagnosed within the previous two years and did not yet need medication. They were recruited between August 2011 and May 2016 through academic and community hospitals across the Netherlands, with the Academic Medical Center in Amsterdam as the coordinating centre. Patients received levodopa/carbidopa for 80 weeks, or placebo for 40 weeks followed by levodopa/carbidopa for 40 weeks, with follow-up visits at 3 and 5 years, to test whether starting levodopa early modifies the course of the disease."; "PMID:26584951", "PMID:35164821", "PMID:38644623"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 446; "patients with early Parkinson's disease included (randomised) 2011-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8842530/fullTextXML"; rdfs:comment "A total of 446 patients were included (average 7.8 patients per month), which is 6.8% of the estimated eligible patients." . _:27b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LEAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10912, _:genid-371333f489424440b12a13b9d98ced822608-genid10914; , , , ; "GCST90281037"; "A nation-wide, monocentric, observational, longitudinal-prospective cohort of people with Parkinson's disease or atypical parkinsonism at any disease stage, and of control subjects without a neurodegenerative disorder, recruited since 2015 in Luxembourg and the surrounding Greater Region of Germany, France and Belgium within the National Centre of Excellence in Research on Parkinson's Disease (NCER-PD). Patients are followed up annually with deep clinical phenotyping and biosampling, to find markers for early diagnosis and progression."; 837; 811; 1655; "LPS", "LuxPark", "Luxembourg Parkinson Study", "Luxembourg Parkinson's study"; ; rdfs:label "Luxembourg Parkinson's Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10912; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38174101+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Since 2015, over 800 individuals with PD and atypical parkinsonism along with more than 800 control subjects have been recruited in the frame of the observational, monocentric, nation-wide, longitudinal-prospective Luxembourg Parkinson's study." . _:27b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10914; "atypical parkinsonism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38174101+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Since 2015, over 800 individuals with PD and atypical parkinsonism along with more than 800 control subjects have been recruited in the frame of the observational, monocentric, nation-wide, longitudinal-prospective Luxembourg Parkinson's study." . _:27ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10763250/fullTextXML"; rdfs:comment "Participants were recruited from Luxembourg and the surrounding geographical areas of Germany, France, and Belgium, as defined by the Greater Region." . _:27bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281037"; "Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia."; "PMID:39132902", "https://europepmc.org/api/getPdf?pmcid=PMC11490412"; rdfs:comment "We would like to thank all participants of the Luxembourg Parkinson’s Study for their important support of our research." . _:27bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nation-wide, monocentric, observational, longitudinal-prospective cohort of people with Parkinson's disease or atypical parkinsonism at any disease stage, and of control subjects without a neurodegenerative disorder, recruited since 2015 in Luxembourg and the surrounding Greater Region of Germany, France and Belgium within the National Centre of Excellence in Research on Parkinson's Disease (NCER-PD). Patients are followed up annually with deep clinical phenotyping and biosampling, to find markers for early diagnosis and progression."; "PMID:30420802", "PMID:38174101"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 837; "participants enrolled in the screening phase since 2015 (patients with parkinsonism and controls), 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10763250/fullTextXML"; rdfs:comment "We enrolled 1,655 participants in the study screening phase of the Luxembourg Parkinson’s study." . _:27be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 811; "participants enrolled in the screening phase since 2015 (patients with parkinsonism and controls), 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10763250/fullTextXML"; rdfs:comment "We enrolled 1,655 participants in the study screening phase of the Luxembourg Parkinson’s study." . _:27bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1655; "participants enrolled in the screening phase since 2015 (patients with parkinsonism and controls), 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10763250/fullTextXML"; rdfs:comment "We enrolled 1,655 participants in the study screening phase of the Luxembourg Parkinson’s study." . _:27c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LPS"; . _:27c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LuxPark"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10924, _:genid-371333f489424440b12a13b9d98ced822608-genid10926, _:genid-371333f489424440b12a13b9d98ced822608-genid10928; , ; ; "GCST90502911"; "A biobank cohort set up by the US National Heart, Lung, and Blood Institute (NHLBI) in 2004 that, from 2005 to 2019, enrolled adults undergoing clinically indicated thoracic surgery (resection of lung nodules or masses, diagnostic biopsy for interstitial lung disease, lung volume reduction surgery or lung transplantation) at Mayo Clinic, Temple University and the Universities of Colorado, Michigan and Pittsburgh, and banked their excess lung tissue and blood together with questionnaire, lung function and chest CT data. Participants with and without lung disease were included, to support research on the pathobiology of chronic obstructive pulmonary disease, interstitial lung diseases such as idiopathic pulmonary fibrosis, and related lung diseases."; 4486; "LTRC"; ; rdfs:label "Lung Tissue Research Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10924 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10926 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10928 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10924; "chronic obstructive pulmonary disease"; "https://biolincc.nhlbi.nih.gov/studies/ltrc/"; rdfs:comment "The LTRC was a biobank resource established by the NHLBI to collect and distribute lung tissue, blood samples, clinical data, and radiographic studies from participants with chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF), other related idiopathic interstitial pneumonias (IIP) and interstitial pneumonias associated with connective tissue diseases who undergo medically-indicated lung resection." . _:27c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10926; "interstitial lung disease"; "https://biolincc.nhlbi.nih.gov/studies/ltrc/"; rdfs:comment "The LTRC was a biobank resource established by the NHLBI to collect and distribute lung tissue, blood samples, clinical data, and radiographic studies from participants with chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF), other related idiopathic interstitial pneumonias (IIP) and interstitial pneumonias associated with connective tissue diseases who undergo medically-indicated lung resection." . _:27c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10928; "idiopathic pulmonary fibrosis"; "https://biolincc.nhlbi.nih.gov/studies/ltrc/"; rdfs:comment "The LTRC was a biobank resource established by the NHLBI to collect and distribute lung tissue, blood samples, clinical data, and radiographic studies from participants with chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF), other related idiopathic interstitial pneumonias (IIP) and interstitial pneumonias associated with connective tissue diseases who undergo medically-indicated lung resection." . _:27c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001662.v4.p2"; rdfs:comment "Subjects were recruited from Mayo Clinic, Universities of Colorado, Michigan, and Pittsburgh, and Temple University." . _:27c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Lung Tissue Research Consortium (LTRC)" . _:27c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank cohort set up by the US National Heart, Lung, and Blood Institute (NHLBI) in 2004 that, from 2005 to 2019, enrolled adults undergoing clinically indicated thoracic surgery (resection of lung nodules or masses, diagnostic biopsy for interstitial lung disease, lung volume reduction surgery or lung transplantation) at Mayo Clinic, Temple University and the Universities of Colorado, Michigan and Pittsburgh, and banked their excess lung tissue and blood together with questionnaire, lung function and chest CT data. Participants with and without lung disease were included, to support research on the pathobiology of chronic obstructive pulmonary disease, interstitial lung diseases such as idiopathic pulmonary fibrosis, and related lung diseases."; "https://biolincc.nhlbi.nih.gov/studies/ltrc/", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001662.v4.p2"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4486; "subjects enrolled (thoracic surgery patients with and without lung disease)"; "https://biolincc.nhlbi.nih.gov/studies/ltrc/"; rdfs:comment "Participants A total of 4,486 subjects were enrolled, and lung tissue was obtained from 3,333 of these." . _:27c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LTRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10935; , ; , ; "GCST90129576"; "A population-based case-control study of postmenopausal breast cancer in two regions of Germany, Hamburg and Rhine-Neckar-Karlsruhe, which from 2002 to 2005 enrolled women aged 50–74 with incident invasive or in situ breast cancer and population controls frequency-matched to them, interviewed face to face to investigate risk factors, notably menopausal hormone therapy. Its cases were re-interviewed in 2009 and followed for survival and recurrence until 2015 as the MARIE patient cohort."; 3464; 6657; "MARIE", "Mammary carcinoma Risk factor Investigation"; ; rdfs:label "Mammary Carcinoma Risk Factor Investigation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10935; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18506692+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a large population-based case-control study in Germany, including 3,464 breast cancer cases aged 50-74 at diagnosis and 6,657 population based and frequency matched controls" . _:27cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23423446+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In stage I, we performed a case-only GWAS in 731 invasive breast cancer cases from the German case-control study Mammary Carcinoma Risk Factor Investigation (MARIE)." . _:27cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The MARIE study was supported by the Deutsche Krebshilfe e.V." . _:27cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of postmenopausal breast cancer in two regions of Germany, Hamburg and Rhine-Neckar-Karlsruhe, which from 2002 to 2005 enrolled women aged 50–74 with incident invasive or in situ breast cancer and population controls frequency-matched to them, interviewed face to face to investigate risk factors, notably menopausal hormone therapy. Its cases were re-interviewed in 2009 and followed for survival and recurrence until 2015 as the MARIE patient cohort."; "PMID:18506692", "PMID:31694687", "PMID:37964298"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3464; "postmenopausal breast cancer cases and frequency-matched population controls, 2002-2005"; "PMID:18506692"; rdfs:comment "In a large population-based case-control study in Germany, including 3,464 breast cancer cases aged 50-74 at diagnosis and 6,657 population based and frequency matched controls, we investigated the effects of menopausal hormone therapy (HT) by type, regimen, timing and progestagenic constituent on postmenopausal breast cancer risk overall and according to histological type." . _:27cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6657; "postmenopausal breast cancer cases and frequency-matched population controls, 2002-2005"; "PMID:18506692"; rdfs:comment "In a large population-based case-control study in Germany, including 3,464 breast cancer cases aged 50-74 at diagnosis and 6,657 population based and frequency matched controls, we investigated the effects of menopausal hormone therapy (HT) by type, regimen, timing and progestagenic constituent on postmenopausal breast cancer risk overall and according to histological type." . _:27d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MARIE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10943, _:genid-371333f489424440b12a13b9d98ced822608-genid10945; , ; "GCST90841377"; "A prospective population-based cohort of residents of Olmsted County, Minnesota, United States, randomly sampled with age and sex stratification from the population enumerated by the Rochester Epidemiology Project medical records-linkage system: people aged 70–89 from 2004, extended in 2012 to ages 50–69 and later to younger adults. Participants have in-person clinical, neurological and neuropsychological evaluations with a consensus diagnosis of normal cognition, mild cognitive impairment or dementia, repeated about every 15 months together with neuroimaging and biomarkers, to study the prevalence, incidence, risk factors and biomarkers of mild cognitive impairment and dementia."; 6909; "MCSA"; ; rdfs:label "Mayo Clinic Study of Aging"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10943 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10945 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10943; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18259084+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objective of this study was to establish a prospective population-based cohort to investigate the prevalence, incidence and risk factors for mild cognitive impairment (MCI) and dementia." . _:27d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10945; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18259084+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The objective of this study was to establish a prospective population-based cohort to investigate the prevalence, incidence and risk factors for mild cognitive impairment (MCI) and dementia." . _:27d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12362905/fullTextXML"; rdfs:comment "The MCSA cohort is a population-based sample of Olmsted County, Minnesota for studying various aspects of aging." . _:27d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841377"; "Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease."; "PMID:37101235", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134547/fullTextXML"; rdfs:comment "These cohorts included Memento [24], Mayo Clinic Study of Aging (MCSA) [25], Wisconsin Registry for Alzheimer's Prevention (WRAP) [26], Berkeley Aging Cohort study (BACS) [27], Korean study [28], and MISSION-AD." . _:27d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of residents of Olmsted County, Minnesota, United States, randomly sampled with age and sex stratification from the population enumerated by the Rochester Epidemiology Project medical records-linkage system: people aged 70–89 from 2004, extended in 2012 to ages 50–69 and later to younger adults. Participants have in-person clinical, neurological and neuropsychological evaluations with a consensus diagnosis of normal cognition, mild cognitive impairment or dementia, repeated about every 15 months together with neuroimaging and biomarkers, to study the prevalence, incidence, risk factors and biomarkers of mild cognitive impairment and dementia."; "PMID:18259084", "PMID:40830522", "PMID:41001249", "PMID:42690834"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6909; "MCSA participants (all enrolment waves), as given in a 2026 analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42690834+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from 924 participants with incident dementia from the Mayo Clinic Study of Aging (N = 6909), a cohort with clinical follow-up visits every 15 months." . _:27d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10952; , ; ; "GCST90103991"; "A hospital-based case-control study designed for biomarker and genetic studies of coronary artery disease, which from August 2004 to March 2007 recruited patients with and without angiographic coronary artery disease undergoing cardiac catheterisation at the Washington Hospital Center, Washington, DC, United States, with support from the MedStar Research Institute."; 875; 447; 1322; "MedSTAR", "MedSTAR cardiac catheterization study", "Medstar"; ; rdfs:label "MedStar"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10952 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10952; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3297116/unicode"; rdfs:comment "Discovery studies were PennCath and MedStar (webappendix p 2), which recruited patients before coronary angiography at the University of Pennsylvania Medical Center (Penn) and Washington Hospital Center (WHC), respectively." . _:27d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3297116/"; rdfs:comment "Discovery studies were PennCath and MedStar (webappendix p 2), which recruited patients before coronary angiography at the University of Pennsylvania Medical Center (Penn) and Washington Hospital Center (WHC), respectively." . _:27da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103991"; "Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci."; "PMID:35186008", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8847690/supplementaryFiles"; rdfs:comment "Meta-analysis of MVP, Biobank Japan, PMBB, Pakistan Genomic Resource, MedStar, PennCath, DIAMANTE, and Malmö Diet and Cancer Study" . _:27db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study designed for biomarker and genetic studies of coronary artery disease, which from August 2004 to March 2007 recruited patients with and without angiographic coronary artery disease undergoing cardiac catheterisation at the Washington Hospital Center, Washington, DC, United States, with support from the MedStar Research Institute."; "PMID:21239051", "PMID:21378990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 875; "white patients in the case-control GWAS sample (angiographic CAD cases and controls), 2004-2007"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3297116/"; rdfs:comment "Study design of the case-control GWAS was similar to that for PennCath, with 1322 white patients composed of controls (n=447) and those with angiographic CAD (n=875)." . _:27dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 447; "white patients in the case-control GWAS sample (angiographic CAD cases and controls), 2004-2007"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3297116/"; rdfs:comment "Study design of the case-control GWAS was similar to that for PennCath, with 1322 white patients composed of controls (n=447) and those with angiographic CAD (n=875)." . _:27de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1322; "white patients in the case-control GWAS sample (angiographic CAD cases and controls), 2004-2007"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3297116/"; rdfs:comment "Study design of the case-control GWAS was similar to that for PennCath, with 1322 white patients composed of controls (n=447) and those with angiographic CAD (n=875)." . _:27df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedSTAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10961, _:genid-371333f489424440b12a13b9d98ced822608-genid10963, _:genid-371333f489424440b12a13b9d98ced822608-genid10965; , ; ; "GCST90129576"; "A prospective population-based cohort of Swedish-born women aged 25–64 without a history of cancer, randomly selected from the population registry of the southern Swedish healthcare region and recruited in 1990–1992, who answered a baseline questionnaire on sun exposure habits, constitutional characteristics and other risk factors for melanoma and follow-up questionnaires every ten years, with cancer incidence and mortality followed through Swedish national registers. It was set up to study risk factors for melanoma and is also used to study the health effects of sun exposure."; 30501; "MISS", "Melanoma In Southern Sweden", "Melanoma Inquiry in Southern Sweden", "Melanoma Inquiry of Southern Sweden"; ; rdfs:label "Melanoma in Southern Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10961 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10963 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid10965 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10961; "UV exposure", "sunbed use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9128912/fullTextXML"; rdfs:comment "A prospective, population-based study of 40,000 women regarding host factors, UV exposure and sunbed use in relation to risk and anatomic site of cutaneous melanoma." . _:27e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10963; "sun-exposure habits"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9128912/fullTextXML"; rdfs:comment "A prospective, population-based study of 40,000 women regarding host factors, UV exposure and sunbed use in relation to risk and anatomic site of cutaneous melanoma." . _:27e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10965; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10477307/fullTextXML"; rdfs:comment "The Melanoma Inquiry in Southern Sweden (MISS) was a prospective cohort study looking at risk factors for melanoma [27]." . _:27e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9128912/fullTextXML"; rdfs:comment "In short, 41,000 Swedish-born women, with no history of malignancy, were selected randomly from each year of age in the category 25-64 years, from the Population Registry in southern Sweden (Fig. 1)." . _:27e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The MISS study is supported by funding from ERC-2011-294576 Advanced grant, Swedish Cancer Society, Swedish Research Council, Local hospital funds, Berta Kamprad Foundation, Gunnar Nilsson." . _:27e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of Swedish-born women aged 25–64 without a history of cancer, randomly selected from the population registry of the southern Swedish healthcare region and recruited in 1990–1992, who answered a baseline questionnaire on sun exposure habits, constitutional characteristics and other risk factors for melanoma and follow-up questionnaires every ten years, with cancer incidence and mortality followed through Swedish national registers. It was set up to study risk factors for melanoma and is also used to study the health effects of sun exposure."; "PMID:31663602", "PMID:37675201", "PMID:40102189"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30501; "women who returned the baseline questionnaire, 1990-1992 (of 41,000 invited)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9128912/fullTextXML"; rdfs:comment "Information was collected from Swedish National Registers on participants (n = 30,501) and non-participants (n = 10,499) in the “Melanoma In Southern Sweden” (MISS) study and the background population (n = 243,032)." . _:27e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MISS"; . a owl:NamedIndividual, ; , ; "GCST90568440"; "A twin registry at Michigan State University, begun as a university-based registry of undergraduate twins and since 2004 recruiting twins identified from birth records by the Michigan Department of Health and Human Services. Its population-based mail-in registry enrols child and adolescent twins aged 3–17 with their families and adult twins aged 18–55 living in lower Michigan, United States, and in-depth in-person twin family studies are drawn from it, to examine developmental differences in genetic, environmental, neural and neurobiological influences on psychopathology and resilience, particularly in childhood and adolescence."; 30000; "MSUTR", "Michigan State University Twin Register"; ; rdfs:label "Michigan State University Twin Registry"@en . _:27e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7083329/"; rdfs:comment "The Michigan Department of Health and Human Services (MDHHS; formerly known as the Michigan Department of Community Health) identifies twin pairs residing in lower Michigan who meet our study age criteria (see criteria below)" . _:27e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "Data for this study comes from the Michigan State University Twin Registry (MSUTR)" . _:27ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A twin registry at Michigan State University, begun as a university-based registry of undergraduate twins and since 2004 recruiting twins identified from birth records by the Michigan Department of Health and Human Services. Its population-based mail-in registry enrols child and adolescent twins aged 3–17 with their families and adult twins aged 18–55 living in lower Michigan, United States, and in-depth in-person twin family studies are drawn from it, to examine developmental differences in genetic, environmental, neural and neurobiological influences on psychopathology and resilience, particularly in childhood and adolescence."; "PMID:23101567", "PMID:31466551"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30000; "twins and family members in the population-based registry (approximate), 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31466551+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The MSUTR has two broad components: a large-scale, population-based registry of child, adolescent, and adult twins and their families (current N ~30,000) and a series of more focused and in-depth studies drawn from the registry (projected N ~7200)." . _:27ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSUTR"; . a owl:NamedIndividual, ; , ; "GCST90568440"; "A birth cohort of women recruited at their first antenatal clinic visit at the Mater Hospital in Brisbane, Australia, in 1981–1983, and of their live singleton children, followed up after the birth, at 6 months and at 5, 14 and 21 years, and in adulthood (mothers at 27 years, children at 30 years) with later record linkage. Begun as a study of pregnancy and its outcomes, it has become a longitudinal study of growth, development and ageing that emphasises the transmission across generations of factors affecting adult health."; 7223; "MUSP", "Mater University of Queensland Study of Pregnancy", "Mater-University of Queensland Study of Pregnancy and its outcomes"; ; rdfs:label "Mater-University of Queensland Study of Pregnancy"@en . _:27ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19774750+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The data were taken from the Mater-University of Queensland Study of Pregnancy (MUSP), a longitudinal study of mothers and children which started in Brisbane, Australia, in 1981." . _:27ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "The authors thank the MUSP study participants and study team." . _:27ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of women recruited at their first antenatal clinic visit at the Mater Hospital in Brisbane, Australia, in 1981–1983, and of their live singleton children, followed up after the birth, at 6 months and at 5, 14 and 21 years, and in adulthood (mothers at 27 years, children at 30 years) with later record linkage. Begun as a study of pregnancy and its outcomes, it has become a longitudinal study of growth, development and ageing that emphasises the transmission across generations of factors affecting adult health."; "PMID:19774750", "PMID:25519422", "PMID:40889875"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:27f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7223; "pregnant woman-child pairs at baseline, 1981-1983 (6753 mothers)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25519422+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Mater-University of Queensland Study of Pregnancy (MUSP) and its outcomes began in 1981 with data collected on 7223 pregnant woman-child pairs (6753 mothers, of whom 520 had 2 study children, less 50 who had multiple births)." . _:27f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MUSP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid10982; , , , , , , , , , , , , , , ; "GCST90162630"; "An international consortium of myositis research centres through which DNA samples with clinical and autoantibody data from patients of European ancestry with idiopathic inflammatory myopathies (adult and juvenile polymyositis and dermatomyositis, and inclusion body myositis) were collected at participating centres in Europe, the United States and Australia, including national collections such as the UK Adult Onset Myositis Immunogenetic Collaboration, for genome-wide and Immunochip association studies of myositis and its clinical and serological subgroups, analysed against controls supplied by other disease consortia."; 2954; "International Myositis Genetics Consortium", "MYOGEN"; ; rdfs:label "Myositis Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid10982 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:27f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid10982; "idiopathic inflammatory myopathies"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36580032+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed 2,565 Caucasian IIM patient samples collected through the Myositis Genetics Consortium (MYOGEN) and 10,260 ethnically matched control samples." . _:27f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Australia Royal Adelaide Hospital (-)34.9212 57 19" . _:27f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Belgium Ghent University Hospital 51.0247 4 2" . _:27f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Czech Republic Charles University, Prague 50.0872 102 122" . _:27f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "France Pitié-Salpêtrière Hospital, Paris 48.8372 6 11" . _:27f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Hungary University of Debrecen 47.5537 128 60" . _:27f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Netherlands University Medical Center Utrecht 52.0864 16 13" . _:27f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Norway Oslo University Hospital 59.9402 25 32" . _:27fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Spain Vall d'Hebron Hospital, Barcelona 41.4280 25 39" . _:27fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Sweden Karolinska University Hospital 59.3521 143 90" . _:27fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "Switzerland University Hospital Zurich 47.3769 2 1" . _:27fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5300750/"; rdfs:comment "Members of the UK Adult Onset Myositis Immunogenetic Collaboration who recruited and enrolled subjects are as follows" . _:27fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5994128/supplementaryFiles"; rdfs:comment "US NIH, Bethesda, MD 39.0032 36 164" . _:27ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90162630"; "Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis."; "PMID:35094092", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9307311/fullTextXML"; rdfs:comment "Samples of Caucasian ancestry (n = 952) were obtained via international collaboration including samples from the UK Juvenile Dermatomyositis Cohort & Biomarker Study, the Childhood Myositis Heterogeneity Study Group and the Myositis Genetics Consortium (Table 1)." . _:28002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of myositis research centres through which DNA samples with clinical and autoantibody data from patients of European ancestry with idiopathic inflammatory myopathies (adult and juvenile polymyositis and dermatomyositis, and inclusion body myositis) were collected at participating centres in Europe, the United States and Australia, including national collections such as the UK Adult Onset Myositis Immunogenetic Collaboration, for genome-wide and Immunochip association studies of myositis and its clinical and serological subgroups, analysed against controls supplied by other disease consortia."; "PMID:26362759", "PMID:29884237", "PMID:36580032"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2954; "IIM case samples collected through MYOGEN for its Immunochip study (controls shared from other consortia), 2016"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5300750/"; rdfs:comment "2,954 samples from 14 countries were collected through the Myositis Genetics Consortium (MYOGEN), and written informed consent was obtained from all cases with approval from research ethics boards at each participating centre." . _:28022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MYOGEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11000; , ; ; "GCST90129576"; "A population-based study of breast cancer among women aged 20–74 in central and eastern North Carolina, United States, run from the University of North Carolina, which identifies newly diagnosed cases through rapid case ascertainment with the North Carolina Central Cancer Registry and oversamples Black and younger women. Phases I (1993–1996) and II (1996–2001) in 24 counties were a case-control study with controls drawn from Department of Motor Vehicles and Medicare enrolment records; phase III (2008–2013) enrolled invasive cases in 44 counties and followed them for recurrence, to study the biology, risk factors and outcomes of breast cancer and their differences by race and age."; "The acronym CBCS also denotes Canadian Breast Cancer Study (COHO:0000899) and Copenhagen Breast Cancer Study (COHO:0001623); this term is Carolina Breast Cancer Study."@en, "The acronym NCBCS also denotes North Carolina Bladder Cancer Study (COHO:0001211); this term is Carolina Breast Cancer Study."@en; 5309; 2022; "CBCS", "NCBCS", "NCBRCS", "North Carolina Breast Cancer Study"; ; rdfs:label "Carolina Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11000 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11000; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4972943/fullTextXML"; rdfs:comment "The present study was conducted within the Carolina Breast Cancer Study (CBCS), a large, population-based case-control study of breast cancer biology and epidemiology enriched for breast cancers occurring among young women." . _:28042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4972943/fullTextXML"; rdfs:comment "The CBCS is a population-based case-control study conducted in 24 (phases I and II) and 44 (phase III) counties of central and eastern North Carolina." . _:28052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The Carolina Breast Cancer Study (NCBCS) was funded by Komen Foundation, the National Cancer Institute (P50 CA058223, U54 CA156733, U01 CA179715), and the North Carolina University Cancer Research Fund." . _:28062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of breast cancer among women aged 20–74 in central and eastern North Carolina, United States, run from the University of North Carolina, which identifies newly diagnosed cases through rapid case ascertainment with the North Carolina Central Cancer Registry and oversamples Black and younger women. Phases I (1993–1996) and II (1996–2001) in 24 counties were a case-control study with controls drawn from Department of Motor Vehicles and Medicare enrolment records; phase III (2008–2013) enrolled invasive cases in 44 counties and followed them for recurrence, to study the biology, risk factors and outcomes of breast cancer and their differences by race and age."; "PMID:27492244", "PMID:33479248", "PMID:36968228"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5309; "breast cancer cases (phases I-III) and control subjects (phases I-II), 2013"; "PMID:27492244"; rdfs:comment "We examined tumor characteristics and epidemiologic risk factors associated with premenopausal women's and young women's breast cancer in phases I-III of the Carolina Breast Cancer Study (5309 cases, 2022 control subjects)." . _:28082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2022; "breast cancer cases (phases I-III) and control subjects (phases I-II), 2013"; "PMID:27492244"; rdfs:comment "We examined tumor characteristics and epidemiologic risk factors associated with premenopausal women's and young women's breast cancer in phases I-III of the Carolina Breast Cancer Study (5309 cases, 2022 control subjects)." . _:28092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBCS"; . _:280a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCBCS"; . _:280b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCBRCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11010; , ; ; "PMID:19706757"; "A hospital-based case-control study of bladder cancer in North Carolina, United States, which enrolled patients with transitional cell carcinoma of the bladder and control patients without cancer (mainly presenting with benign prostatic hypertrophy or impotence), frequency-matched on race, sex and age, at the urology clinics of Duke University Medical Center and the University of North Carolina Hospitals, to study inherited variation in carcinogen-metabolism and DNA-repair genes, smoking and bladder cancer risk."; "The acronym NCBCS also denotes Carolina Breast Cancer Study (COHO:0001210); this term is North Carolina Bladder Cancer Study."@en; 229; 211; "NCBCS"; rdfs:label "North Carolina Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11010 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:280c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11010; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8320745+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using a polymerase chain reaction (PCR)-based method, we examined the frequency of the homozygous deleted genotype (GSTM1 0/0) in 229 patients with transitional cell carcinoma of the bladder and 211 control subjects who were enrolled from the Urology Clinics at Duke University Medical Center and the University of North Carolina Hospitals." . _:280d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "NCBCS North Carolina Bladder Cancer Study 215 245 77 USA: hospital-based" . _:280e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19706757"; "Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer."; "PMID:19706757", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "NCBCS North Carolina Bladder Cancer Study 215 245 77 USA: hospital-based" . _:280f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer in North Carolina, United States, which enrolled patients with transitional cell carcinoma of the bladder and control patients without cancer (mainly presenting with benign prostatic hypertrophy or impotence), frequency-matched on race, sex and age, at the urology clinics of Duke University Medical Center and the University of North Carolina Hospitals, to study inherited variation in carcinogen-metabolism and DNA-repair genes, smoking and bladder cancer risk."; "PMID:11219769", "PMID:19706757", "PMID:8320745"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 229; "bladder cancer cases and clinic control subjects enrolled at Duke and UNC urology clinics (1993)"; "PMID:8320745"; rdfs:comment "Using a polymerase chain reaction (PCR)-based method, we examined the frequency of the homozygous deleted genotype (GSTM1 0/0) in 229 patients with transitional cell carcinoma of the bladder and 211 control subjects who were enrolled from the Urology Clinics at Duke University Medical Center and the University of North Carolina Hospitals." . _:28112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 211; "bladder cancer cases and clinic control subjects enrolled at Duke and UNC urology clinics (1993)"; "PMID:8320745"; rdfs:comment "Using a polymerase chain reaction (PCR)-based method, we examined the frequency of the homozygous deleted genotype (GSTM1 0/0) in 229 patients with transitional cell carcinoma of the bladder and 211 control subjects who were enrolled from the Urology Clinics at Duke University Medical Center and the University of North Carolina Hospitals." . _:28122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11018; , ; "GCST90274713"; "A case-control study of prostate cancer of the US National Cancer Institute in the Baltimore area of Maryland, which from 2005 to 2015 enrolled African American and European American men diagnosed with prostate cancer at the Baltimore Veterans Affairs Medical Center and the University of Maryland Medical Center, and population controls identified through the Maryland motor vehicle administration and frequency-matched to cases on age and race. Participants were interviewed about their demographics, lifestyle and medical and family history and gave blood or mouthwash samples, to study environmental and genetic factors in prostate cancer among African American men."; 976; 1034; 2010; "Maryland Prostate Cancer Case-Control Study", "NCI-MD", "NCI-Maryland prostate Cancer Case-Control Study"; ; rdfs:label "NCI-Maryland Prostate Cancer Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11018 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11018; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29784730+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "the NCI-Maryland Prostate Cancer Case-Control Study consisting of 798 men with incident prostate cancer (402 AA and 496 EA) and 1,008 population-based controls (474 AA and 534 EA)." . _:28142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9592685/fullTextXML"; rdfs:comment "Cases were recruited at the Baltimore Veterans Affairs Medical Center and the University of Maryland Medical Center." . _:28152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274713"; "Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants."; "PMID:37945903", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10841479/unicode"; rdfs:comment "The present study included an additional 49,072 cases and 661,437 controls from the UK Biobank, the FinnGen study, the Electronic Medical Records and Genomics (eMERGE) Network, the BioVU Biobank, the BioMe Biobank, the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO), the MD Anderson prostate cancer study (MD Anderson), the California and Uganda Prostate Cancer Study (CA UG), the VA Million Veteran Program (MVP), and the Maryland Prostate Cancer Case-Control Study (NCI-MD) (Supplementary Table 1)." . _:28162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of prostate cancer of the US National Cancer Institute in the Baltimore area of Maryland, which from 2005 to 2015 enrolled African American and European American men diagnosed with prostate cancer at the Baltimore Veterans Affairs Medical Center and the University of Maryland Medical Center, and population controls identified through the Maryland motor vehicle administration and frequency-matched to cases on age and race. Participants were interviewed about their demographics, lifestyle and medical and family history and gave blood or mouthwash samples, to study environmental and genetic factors in prostate cancer among African American men."; "PMID:29784730", "PMID:35468990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 976; "men recruited 2005-2015 (cases and population controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9592685/fullTextXML"; rdfs:comment "In addition, we could not evaluate the relationship of HHV-8 seropositivity with prostate cancer for all men in the NCI-Maryland study because we could not collect sera samples and germline DNA from a subset of the men, leading to the inclusion of 1541 men in the analysis out of the 2010 recruited men (76.7%)." . _:28182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1034; "men recruited 2005-2015 (cases and population controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9592685/fullTextXML"; rdfs:comment "In addition, we could not evaluate the relationship of HHV-8 seropositivity with prostate cancer for all men in the NCI-Maryland study because we could not collect sera samples and germline DNA from a subset of the men, leading to the inclusion of 1541 men in the analysis out of the 2010 recruited men (76.7%)." . _:28192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2010; "men recruited 2005-2015 (cases and population controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9592685/fullTextXML"; rdfs:comment "In addition, we could not evaluate the relationship of HHV-8 seropositivity with prostate cancer for all men in the NCI-Maryland study because we could not collect sera samples and germline DNA from a subset of the men, leading to the inclusion of 1541 men in the analysis out of the 2010 recruited men (76.7%)." . _:281a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-MD"; . a owl:NamedIndividual, ; , ; , ; "GCST90841457"; "A prospective birth cohort of the University of Oulu comprising the children of all mothers in the two northernmost provinces of Finland, Oulu and Lapland, whose expected date of delivery fell in 1966, recruited during pregnancy at the region's antenatal clinics from 1965. Set up to study the risk factors for and consequences of preterm birth and intrauterine growth retardation, it has followed its members with questionnaires at 1, 14, 31 and 46 years of age, clinical examinations in adulthood and linked national registers to study the life-course origins of health and disease."; 12058; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NFBC1966"; "1966 Northern Finland Birth Cohort", "NFBC-66", "NFBC1966", "NFBC66", "Northern Finland Birth Cohort of 1966", "Northern Finland Premature Birth Study", "Northern Finland birth cohort 1966"; , ; rdfs:label "Northern Finland Birth Cohort 1966"@en; rdfs:seeAlso . _:281b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11202814+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were obtained from 5696 subjects born in the year 1966 in northern Finland." . _:281c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841457"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "Northern Finland Birth Cohort 1966" . _:281d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of the University of Oulu comprising the children of all mothers in the two northernmost provinces of Finland, Oulu and Lapland, whose expected date of delivery fell in 1966, recruited during pregnancy at the region's antenatal clinics from 1965. Set up to study the risk factors for and consequences of preterm birth and intrauterine growth retardation, it has followed its members with questionnaires at 1, 14, 31 and 46 years of age, clinical examinations in adulthood and linked national registers to study the life-course origins of health and disease."; "PMID:34999878"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:281e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12058; "live-born children included in the cohort follow-ups (1966)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8743124/"; rdfs:comment "Finally, 12 058 live-born children were included in the follow-ups, i.e. 5890 girls and 6168 boys, of whom were 314 twins (see Table 2 under ‘Loss to follow-up’)." . _:281f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFBC-66"; . _:28202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFBC1966"; . _:28212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFBC66"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11034, _:genid-371333f489424440b12a13b9d98ced822608-genid11036, _:genid-371333f489424440b12a13b9d98ced822608-genid11038; , , ; "GCST90841197"; "A randomized, double-blind primary prevention trial of the Cancer Institute of the Chinese Academy of Medical Sciences and the US National Cancer Institute in Linxian, Henan province, China, a rural county with some of the world's highest rates of oesophageal and gastric cardia cancer, which in 1985 enrolled healthy adults aged 40–69 from four communes in northern Linxian and gave them daily combinations of vitamins and minerals or placebo in a fractional factorial design from March 1986 to May 1991. Its participants have since been followed as a prospective cohort for cancer incidence and cause-specific mortality."; 29584; "Linxian Nutrition Intervention Trial", "NIT"; ; rdfs:label "Linxian General Population Nutrition Intervention Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11034 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11036 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11038 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11034; "daily combined vitamin/mineral supplement"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11101236/fullTextXML"; rdfs:comment "Finally, a total of 29,584 subjects were included in the NIT study in 1986 to receive daily combined vitamin/mineral supplement or placebo." . _:28232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11036; "gastric cardia cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7960367+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Rates of oesophageal/gastric cardia cancer in Linxian, a rural county in north central China, are among the world's highest, but the risk factors are not well understood." . _:28242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11038; "oesophageal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7960367+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Rates of oesophageal/gastric cardia cancer in Linxian, a rural county in north central China, are among the world's highest, but the risk factors are not well understood." . _:28252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11101236/fullTextXML"; rdfs:comment "In the 1980s, a Nutritional Intervention Trial (NIT) was initiated in Linxian, Henan province of China." . _:28262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841197"; "Genome wide association analysis and association of genetic risk and lifestyle with upper gastrointestinal cancer among an endoscopy-screened cohort in China."; "PMID:41963194", "https://ars.els-cdn.com/content/image/1-s2.0-S2095927326003270-mmc1.docx"; rdfs:comment "Briefly, participants were drawn from multiple established studies, including the Shanxi Upper Gastrointestinal Cancer Genetics Project and the Linxian Nutrition Intervention Trial, as well as additional prospective cohort studies incorporating in the validation phase." . _:28272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind primary prevention trial of the Cancer Institute of the Chinese Academy of Medical Sciences and the US National Cancer Institute in Linxian, Henan province, China, a rural county with some of the world's highest rates of oesophageal and gastric cardia cancer, which in 1985 enrolled healthy adults aged 40–69 from four communes in northern Linxian and gave them daily combinations of vitamins and minerals or placebo in a fractional factorial design from March 1986 to May 1991. Its participants have since been followed as a prospective cohort for cancer incidence and cause-specific mortality."; "PMID:34022824", "PMID:35224031", "PMID:38282387", "PMID:7960367"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 29584; "adults randomised to supplement combinations or placebo (1986)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8866236/fullTextXML"; rdfs:comment "Finally, a total of 29,584 subjects were randomly assigned to one of eight intervention groups which received daily vitamin/mineral supplement combinations or placebo according to a one-half replicate of a 24 fractional factorial design." . _:28292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11045, _:genid-371333f489424440b12a13b9d98ced822608-genid11047, _:genid-371333f489424440b12a13b9d98ced822608-genid11049; , ; "GCST90554824"; "A cohort of individuals evaluated for cognitive decline at Ace Alzheimer Center Barcelona (Fundació ACE), Spain, recruited from its Memory Clinic, Open House Initiative, the FACEHBI study and the BIOFACE project. Founded in 2014, it studies retinal biomarkers via optical coherence tomography and their relationship to neurodegenerative disorders."; 3977; "NORFACE", "Neuro-Ophthalmology Research at Fundació ACE Cohort"; ; rdfs:label "Neuro-Ophthalmology Research at Fundació ACE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11045 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11047 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11049 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:282a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11045; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10870444/fullTextXML"; rdfs:comment "The study population included 1847 dementia patients, 764 MCI patients, and 559 CH individuals from the NORFACE cohort (Table 1)." . _:282b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11047; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10870444/fullTextXML"; rdfs:comment "The study population included 1847 dementia patients, 764 MCI patients, and 559 CH individuals from the NORFACE cohort (Table 1)." . _:282c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11049; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10870444/fullTextXML"; rdfs:comment "The study population included 1847 dementia patients, 764 MCI patients, and 559 CH individuals from the NORFACE cohort (Table 1)." . _:282d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10870444/fullTextXML"; rdfs:comment "Consecutive individuals evaluated due to cognitive decline at Ace Alzheimer Center Barcelona between September 2014 and March 2019 with a diagnosis of CH, MCI, or dementia, and who had available GWAS data from the GR@ACE study [18] were included in the present analysis." . _:282e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90554824"; "Genome-wide association study and polygenic risk scores of retinal thickness across the cognitive continuum: data from the NORFACE cohort."; "PMID:38365752", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10870444/fullTextXML"; rdfs:comment "The study population comprised 3170 participants from the Neuro-Ophthalmology Research at Fundació ACE (NORFACE) cohort, which was founded in 2014 to search for retinal biomarkers of AD and examine the relationships between retinal changes and different types of neurodegenerative disorders [12]." . _:282f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of individuals evaluated for cognitive decline at Ace Alzheimer Center Barcelona (Fundació ACE), Spain, recruited from its Memory Clinic, Open House Initiative, the FACEHBI study and the BIOFACE project. Founded in 2014, it studies retinal biomarkers via optical coherence tomography and their relationship to neurodegenerative disorders."; "PMID:38365752"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:28302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3977; "Ace cases with clinical information and OCT measurements reviewed for NORFACE analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11568571/fullTextXML"; rdfs:comment "Initially, 3,977 cases from Ace with available clinical information and OCT measurements were reviewed." . _:28312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NORFACE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11056; , ; "GCST90013445"; "A prospective cohort and biorepository of racially and ethnically diverse adults aged 30 or older living in the New York tri-state area, enrolled from January 2000 to December 2002 by the Academic Medical Development Company (AMDeC) Foundation, a consortium of New York institutions, at medical centres, community hospitals and community health centres in all five boroughs of New York City and at New York Blood Center donor drives. Participants completed a baseline questionnaire and gave blood for DNA and plasma, to be followed by questionnaires and registry linkage for studies of cancer aetiology and of racial and ethnic disparities in cancer risk, prevention and outcomes."; 18187; "NYCP", "New York Control Population"; ; rdfs:label "New York Cancer Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11056 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11056; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15136663+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A new cohort study was undertaken with several aims: (1) to provide a database and biorepository for studies of cancer etiology and pathogenesis, including host genetics;" . _:28332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15136663+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Showing the feasibility of constructing a cohort based in New York City, plans proceed for additional recruitment and analyses on the salient questions about cancer." . _:28342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "P.K.G. provided samples for genotyping through the New York Cancer Project (NYCP)." . _:28352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort and biorepository of racially and ethnically diverse adults aged 30 or older living in the New York tri-state area, enrolled from January 2000 to December 2002 by the Academic Medical Development Company (AMDeC) Foundation, a consortium of New York institutions, at medical centres, community hospitals and community health centres in all five boroughs of New York City and at New York Blood Center donor drives. Participants completed a baseline questionnaire and gave blood for DNA and plasma, to be followed by questionnaires and registry linkage for studies of cancer aetiology and of racial and ethnic disparities in cancer risk, prevention and outcomes."; "PMID:15136663"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18187; "adults aged 30+ recruited with baseline questionnaire and blood (2000-2002)"; "PMID:15136663"; rdfs:comment "Using venue-based sampling with quotas, 18,187 adults aged 30 years or older were recruited over a year to undergo a baseline questionnaire, venipuncture, and contact information." . _:28372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NYCP"; . a owl:NamedIndividual, ; , , ; "GCST90454537"; "A population-based biobank study established in 2016 in Okinawa Prefecture, Japan, through the Okinawa Bioinformation Bank Project promoted by the University of the Ryukyus and Okinawa Prefecture, whose participants, recruited on Okinawa's islands including the Miyako Islands, give blood or saliva for DNA and genome-wide genotyping together with health check-up results, lifestyle questionnaires and, for some, the birthplaces of their four grandparents. It aims to clarify the population history of the Ryukyu islanders and to find genetic factors in common and rare diseases."; 10285; "OBi", "Okinawa Bioinformation Bank Project"; ; rdfs:label "Okinawa Bioinformation Bank"@en . _:28382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10615566/fullTextXML"; rdfs:comment "The second one consisted of 6,613 participants who were recruited at Okinawa Prefecture through the OBi Project." . _:28392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454537"; "Genome-wide association studies for pelvic organ prolapse in the Japanese population."; "PMID:39349682", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11443051/fullTextXML"; rdfs:comment "We performed a GWAS for POP in Japanese participants registered in the Okinawa Bioinformation Bank (OBi) and Biobank Japan (BBJ) (Supplementary Fig. 1)." . _:283a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based biobank study established in 2016 in Okinawa Prefecture, Japan, through the Okinawa Bioinformation Bank Project promoted by the University of the Ryukyus and Okinawa Prefecture, whose participants, recruited on Okinawa's islands including the Miyako Islands, give blood or saliva for DNA and genome-wide genotyping together with health check-up results, lifestyle questionnaires and, for some, the birthplaces of their four grandparents. It aims to clarify the population history of the Ryukyu islanders and to find genetic factors in common and rare diseases."; "PMID:33432348", "PMID:37903429", "PMID:39987337"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:283b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10285; "individuals registered in the OBi analysed by PCA (analysed subset), 2025"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11846991/fullTextXML"; rdfs:comment "We analyzed 10,285 individuals registered in the OBi using principal component analysis (PCA), along with individuals in the 1KGP phase 3 reference panel (AFR, n = 661; AMR, n = 347; EAS, n = 504; EUR, n = 503; SAS, n = 489), and defined 10,136 individuals as the Japanese population (Supplementary Fig. 2b)." . _:283c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OBi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11068; , , ; , , , , , , , , , ; "GCST90100588"; "A consortium formed in 2006 within the US National Cancer Institute's Cohort Consortium by investigators of 12 prospective cohort studies to run PanScan, a multi-stage genome-wide association study of pancreatic cancer funded by the NCI. PanScan I genotyped cases and controls from the cohorts and one case-control study, PanScan II (from 2007) those of eight case-control studies, and PanScan III new incident cases from 14 cohorts and from case series and case-control studies, mostly people of European ancestry from the United States and Europe."; 5117; 8845; 13962; "PANSCAN", "PCCC", "PanScan"; ; rdfs:label "Pancreatic Cancer Cohort Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11068 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:283d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11068; "pancreatic cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25086665+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a multistage genome-wide association study including 7,683 individuals with pancreatic cancer and 14,397 controls of European descent." . _:283e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4191666/"; rdfs:comment "Controls of ≥80% European ancestry were drawn from ten of the studies included in PanScan III (Alpha-Tocopherol, Beta-Carotene Lung Cancer Prevention Study (ATBC), American Cancer Society Cancer Prevention Study-II Cohort (CPS-II), European Prospective Investigation into Cancer and Nutrition (EPIC), Health Professionals Follow-Up Study (HPFS)" . _:283f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8488877/"; rdfs:comment "The 3 PanScan GWAS included participants from 16 cohorts from the National Cancer Institute (NCI) Cohort Consortium, 9 case–control studies, and 1 case series (Gastrointestinal Cancer Clinic of Dana–Farber Cancer Institute)" . _:28402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "The studies included in PanScan (PanScan II) from PanC4 are: PACIFIC Study of Group Health and Northern California Kaiser Permanente Johns Hopkins University Mayo Clinic SPORE in Pancreatic Cancer MD Anderson Cancer Center Memorial Sloan Kettering Cancer Center University of California San Francisco University of Toronto Yale University" . _:28412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4191666/"; rdfs:comment "Geographic region was defined as REGION_US (United States): AgHealth, CPS-II, DFCI, HPFS, MEC, NHS, NYU-WHS, PHS, PLCO, SELECT, VITAL, WHI; REGION_CNE (Central and Northern Europe): ATBC, EPIC, PANDoRA-Heidelberg, MCCS (Melbourne); and REGION_SE (Southern Europe): SBCS (Spain controls), PANKRAS-II (cases)." . _:28422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "Also included are 61 pancreatic cancer cases and 67 control subjects from PanScan I as well as 173 pancreatic cancer cases from PanScan III of Asian ancestry from the Shanghai Men's and Women's Health Study (Supplemental Table 10, Wolpin et al. (Nat Genet, 2014))." . _:28432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "In addition to the cases from cohorts, we also included cases from the Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute Study (DFCI-GCC); from the University Hospital in Heidelberg, Germany, which is part of a larger European clinical case-control study (PANDoRA); and from clinic-based cases from eastern Spain (PANKRAS-II)." . _:28442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90100588"; "Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk."; "PMID:34926279", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8678088/fullTextXML"; rdfs:comment "To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry." . _:28452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium formed in 2006 within the US National Cancer Institute's Cohort Consortium by investigators of 12 prospective cohort studies to run PanScan, a multi-stage genome-wide association study of pancreatic cancer funded by the NCI. PanScan I genotyped cases and controls from the cohorts and one case-control study, PanScan II (from 2007) those of eight case-control studies, and PanScan III new incident cases from 14 cohorts and from case series and case-control studies, mostly people of European ancestry from the United States and Europe."; "PMID:25086665", "https://dceg.cancer.gov/research/cancer-types/pancreas/panscan", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5117; "PDAC cases and controls of European ancestry in the PanScan I-III association summary statistics"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "The dataset includes results from an association study of 5,117 individuals diagnosed with pancreatic ductal adenocarcinoma (PDAC) and 8,845 control individuals, or a total of 13,962 subjects of European ancestry (as compared to the genotype and phenotype information under this project that includes 9,437 individuals (PanScan I and II PDAC case and control individuals and PanScan III PDAC cases only)." . _:28472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8845; "PDAC cases and controls of European ancestry in the PanScan I-III association summary statistics"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "The dataset includes results from an association study of 5,117 individuals diagnosed with pancreatic ductal adenocarcinoma (PDAC) and 8,845 control individuals, or a total of 13,962 subjects of European ancestry (as compared to the genotype and phenotype information under this project that includes 9,437 individuals (PanScan I and II PDAC case and control individuals and PanScan III PDAC cases only)." . _:28482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13962; "PDAC cases and controls of European ancestry in the PanScan I-III association summary statistics"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "The dataset includes results from an association study of 5,117 individuals diagnosed with pancreatic ductal adenocarcinoma (PDAC) and 8,845 control individuals, or a total of 13,962 subjects of European ancestry (as compared to the genotype and phenotype information under this project that includes 9,437 individuals (PanScan I and II PDAC case and control individuals and PanScan III PDAC cases only)." . _:28492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANSCAN"; . _:284a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCCC"; . _:284b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PanScan"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11084; , ; ; "GCST90274713"; "A genome-wide association study of prostate cancer run by the Division of Cancer Epidemiology and Genetics of the US National Cancer Institute as a nested case-control study within the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, in which men of European ancestry with pathologically confirmed prostate cancer detected during screening or reported during the trial, and men of the trial without prostate cancer matched to them on age and year of randomization, were genotyped genome-wide to find prostate cancer susceptibility loci, including loci for aggressive disease."; "The acronym PEGASUS also denotes Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin-Thrombolysis in Myocardial Infarction 54 (COHO:0002246); this term is Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci."@en; 4838; 3053; "NCI Prostate Cancer Genome-Wide Association Study of Uncommon Susceptibility Loci Study", "PEGASUS", "PEGASUS_PCa", "PEGASUS_Pca", "ProstatE cancer Genetic Association Study of Uncommon Susceptibility loci", "Prostate cancer Genome-wide Association Study to Uncover Susceptibility loci"; ; rdfs:label "Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11084 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:284c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11084; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4422072/"; rdfs:comment "A new genome-wide association study was conducted in prostate cancer cases and controls of European ancestry from the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial." . _:284d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4422072/"; rdfs:comment "In brief, 76,693 men were enrolled in the trial from 10 centers in the United States from 1993 to 2001 and randomized to receive annual screening with prostate-specific antigen (PSA) for six years and digital rectal exam for the four years or referred to their physician for routine care." . _:284e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5290311/fullTextXML"; rdfs:comment "For PEGASUS, non-cases between ages 55–74 years were selected between 1993 and 2001 from non-Hispanic white men in the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial" . _:284f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90274713"; "Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants."; "PMID:37945903", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01534-4/MediaObjects/41588_2023_1534_MOESM1_ESM.pdf"; rdfs:comment "PEGASUS was supported by the Intramural Research Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health." . _:28502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of prostate cancer run by the Division of Cancer Epidemiology and Genetics of the US National Cancer Institute as a nested case-control study within the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, in which men of European ancestry with pathologically confirmed prostate cancer detected during screening or reported during the trial, and men of the trial without prostate cancer matched to them on age and year of randomization, were genotyped genome-wide to find prostate cancer susceptibility loci, including loci for aggressive disease."; "PMID:25939597", "PMID:28139693", "PMID:30287866"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4838; "PLCO prostate cancer cases and matched controls of European ancestry selected for genotyping (2015)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4422072/"; rdfs:comment "A total of 4,838 prostate cancer cases and 3,053 controls of European ancestry, matched on age and year of randomization, were selected for stage 1." . _:28522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3053; "PLCO prostate cancer cases and matched controls of European ancestry selected for genotyping (2015)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4422072/"; rdfs:comment "A total of 4,838 prostate cancer cases and 3,053 controls of European ancestry, matched on age and year of randomization, were selected for stage 1." . _:28532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS"; . _:28542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS_PCa"; . _:28552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS_Pca"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11095; , ; ; "GCST90103991"; "A hospital-based study of genes and biomarkers for coronary artery disease at the University of Pennsylvania Medical Center, United States, which from July 1998 to March 2003 recruited consecutive patients undergoing cardiac catheterisation and coronary angiography. A nested case-control genome-wide association study of angiographic coronary artery disease in its white patients is one of the core studies of the CARDIoGRAM consortium."; 3815; "PennCATH", "PennCath"; ; rdfs:label "University of Pennsylvania Catheterization Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11095 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11095; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3297116/unicode"; rdfs:comment "Discovery studies were PennCath and MedStar (webappendix p 2), which recruited patients before coronary angiography at the University of Pennsylvania Medical Center (Penn) and Washington Hospital Center (WHC), respectively." . _:28572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2662558/"; rdfs:comment "PennCATH is composed of consecutive participants undergoing coronary angiography at University of Pennsylvania Health System hospitals" . _:28582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103991"; "Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci."; "PMID:35186008", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8847690/supplementaryFiles"; rdfs:comment "Meta-analysis of MVP, Biobank Japan, PMBB, Pakistan Genomic Resource, MedStar, PennCath, DIAMANTE, and Malmö Diet and Cancer Study" . _:28592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based study of genes and biomarkers for coronary artery disease at the University of Pennsylvania Medical Center, United States, which from July 1998 to March 2003 recruited consecutive patients undergoing cardiac catheterisation and coronary angiography. A nested case-control genome-wide association study of angiographic coronary artery disease in its white patients is one of the core studies of the CARDIoGRAM consortium."; "PMID:19287092", "PMID:21239051", "PMID:26343929"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:285a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3815; "consecutive patients undergoing cardiac catheterisation recruited 1998-2003"; "PMID:21239051"; rdfs:comment "Briefly, between July 1, 1998, and March 31, 2003, PennCath recruited 3815 consecutive patients undergoing cardiac catheterisation." . _:285b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PennCATH"; . _:285c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PennCath"; . a owl:NamedIndividual, ; , ; "GCST90104462"; "A multi-site cross-sectional study of typically developing children, adolescents and young adults aged 3 to 20 years, recruited through local postings and outreach in eight metropolitan areas of the United States and assessed at ten US sites, with its coordinating centre at the University of California, San Diego, that collected developmental histories, cognitive assessments, multimodal brain imaging and genome-wide genotypes to create a shared repository for studying brain and cognitive development."; 1493; "PING", "PING study", "Pediatric Imaging Neurocognitive Genetics study", "Pediatric Imaging, Neurocognition and Genetics study", "Pediatric Imaging, Neurocognition, and Genetics study"; ; rdfs:label "Pediatric Imaging, Neurocognition, and Genetics"@en . _:285d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4628902/"; rdfs:comment "The repository contains aggregated data collected at 10 sites in the United States." . _:285e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104462"; "Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people."; "PMID:35998220", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9436320/fullTextXML"; rdfs:comment "The Pediatric Imaging, Neurocognition, and Genetics cohort is funded by NIH Grant RC2DA029475, the National Institute on Drug Abuse, and the Eunice Kennedy Shriver NICHD." . _:285f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site cross-sectional study of typically developing children, adolescents and young adults aged 3 to 20 years, recruited through local postings and outreach in eight metropolitan areas of the United States and assessed at ten US sites, with its coordinating centre at the University of California, San Diego, that collected developmental histories, cognitive assessments, multimodal brain imaging and genome-wide genotypes to create a shared repository for studying brain and cognitive development."; "PMID:25937488", "PMID:35998220"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1493; "participants with acceptable data in the PING repository"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4628902/unicode"; rdfs:comment "This sample consists of 1,493 participants (780 males) for whom acceptable imaging, genomics, and/or cognition assessments were obtained; acceptable imaging data were acquired for 1,239 of these participants (645 males); acceptable cognition data for 1,453 participants (752 males), and acceptable genotyping is available for 1391 (719 males)." . _:28612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PING"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11108; , ; ; "GCST90129576"; "A Swedish breast cancer case-control study, known as prevalent KARMA, that combines women diagnosed with primary breast cancer in Stockholm between 2001 and 2008, identified through the regional cancer register for the LIBRO-1 study, with breast-cancer-free women from the Karolinska Mammography Project for Risk Prediction of Breast Cancer (KARMA) cohort as controls, all of whom gave blood samples, and whose genotypes contribute to the Breast Cancer Association Consortium's studies of breast cancer risk."; 5002; 5433; "PKARMA", "pKARMA", "prevalent KARMA"; ; rdfs:label "Karolinska Mammography Project for Risk Prediction of Breast Cancer - Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11108 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11108; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11160497/fullTextXML"; rdfs:comment "pKARMA is a cohort of 5002 invasive breast cancer patients diagnosed between 2001 and 2008 in Stockholm and 5433 breast cancer-free women from KARMA (26)." . _:28632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10811589/fullTextXML"; rdfs:comment "The study population included women from Swedish cohorts Karolinska Mammography Project for Risk Prediction of Breast Cancer (KARMA) and prevalent KARMA (pKARMA)." . _:28642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/supplementaryFiles"; rdfs:comment "PKARMA: Karolinska Mammography Project for Risk Prediction of Breast Cancer - Case-Control Study" . _:28652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Swedish breast cancer case-control study, known as prevalent KARMA, that combines women diagnosed with primary breast cancer in Stockholm between 2001 and 2008, identified through the regional cancer register for the LIBRO-1 study, with breast-cancer-free women from the Karolinska Mammography Project for Risk Prediction of Breast Cancer (KARMA) cohort as controls, all of whom gave blood samples, and whose genotypes contribute to the Breast Cancer Association Consortium's studies of breast cancer risk."; "PMID:24943594", "PMID:28725034", "PMID:38366028"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5002; "invasive breast cancer cases (LIBRO-1) and breast-cancer-free KARMA women (2008)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11160497/fullTextXML"; rdfs:comment "pKARMA is a cohort of 5002 invasive breast cancer patients diagnosed between 2001 and 2008 in Stockholm and 5433 breast cancer-free women from KARMA (26)." . _:28672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5433; "invasive breast cancer cases (LIBRO-1) and breast-cancer-free KARMA women (2008)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11160497/fullTextXML"; rdfs:comment "pKARMA is a cohort of 5002 invasive breast cancer patients diagnosed between 2001 and 2008 in Stockholm and 5433 breast cancer-free women from KARMA (26)." . _:28682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PKARMA"; . _:28692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pKARMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11117; , , ; "GCST90281037"; "A randomized, double-blind, placebo-controlled trial run by the Parkinson Study Group, which enrolled people with early Parkinson's disease not yet requiring dopaminergic therapy at 65 sites in the United States and Canada between April 2002 and April 2004 to test whether the mixed lineage kinase inhibitor CEP-1347 could slow disease progression; the trial was stopped early for futility in 2005, and its participants were then followed in the observational PostCEPT study."; 806; "PRECEPT", "Parkinson Research Examination of CEP-1347 Trial/A Longitudinal Follow-up of the PRECEPT Study Cohort", "PreCEPT", "PreCEPT/PostCEPT"; ; rdfs:label "Parkinson Research Examination of CEP-1347 Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11117 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:286a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11117; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17881719+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Consenting PD patients not yet requiring dopaminergic therapy (n = 806) were randomized equally to CEP-1347 in dosages of 10 mg BID, 25 mg BID, or 50 mg BID, or matching placebo, and were evaluated blindly and prospectively." . _:286b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2574855/"; rdfs:comment "The participants (n=806) were enrolled between April 2002 and April 2004 at 65 sites across the United States and Canada." . _:286c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281037"; "Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia."; "PMID:39132902", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11490412/"; rdfs:comment "PreCEPT: Parkinson Research Examination of CEP-1347 Trial" . _:286d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind, placebo-controlled trial run by the Parkinson Study Group, which enrolled people with early Parkinson's disease not yet requiring dopaminergic therapy at 65 sites in the United States and Canada between April 2002 and April 2004 to test whether the mixed lineage kinase inhibitor CEP-1347 could slow disease progression; the trial was stopped early for futility in 2005, and its participants were then followed in the observational PostCEPT study."; "PMID:17881719", "PMID:18413464", "PMID:27717005"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:286e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 806; "people with early PD randomised (2004)"; "PMID:17881719"; rdfs:comment "Consenting PD patients not yet requiring dopaminergic therapy (n = 806) were randomized equally to CEP-1347 in dosages of 10 mg BID, 25 mg BID, or 50 mg BID, or matching placebo, and were evaluated blindly and prospectively." . _:286f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRECEPT"; . _:28702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PreCEPT"; . _:28712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PreCEPT/PostCEPT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11126, _:genid-371333f489424440b12a13b9d98ced822608-genid11128; , ; "GCST90726344"; "A Swedish study that between 2013 and 2017 recruited adults who had received electroconvulsive therapy (ECT) recorded in the Swedish National Quality Register for ECT, inviting registered patients by letter to a telephone interview and blood sampling and recruiting others at Swedish psychiatric hospitals before an ECT series, and that links their DNA, stored at the Karolinska Institutet Biobank, to the register's data on each treatment series, to study predictors of ECT outcome, including genetic ones, and the genetics of severe depressive episodes."; 2880; "PREFECT", "PREFECT study", "Predictors for ECT"; ; rdfs:label "Predictors For ECT"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11126 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11128 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11126; "major depressive episode"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33483693+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we test the utility of targeting the severe end of the MDD spectrum through genome-wide SNP genotyping of 2725 cases who received electroconvulsive therapy (ECT) for a major depressive episode (MDE) and 4035 controls." . _:28732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11128; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33483693+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we test the utility of targeting the severe end of the MDD spectrum through genome-wide SNP genotyping of 2725 cases who received electroconvulsive therapy (ECT) for a major depressive episode (MDE) and 4035 controls." . _:28742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12695632/supplementaryFiles"; rdfs:comment "Cohort and country: iPSYCH2012, iPSYCH2015 - Denmark; MoBa - Norway; PREFECT, STAGE - Sweden; FinnGen - Finland." . _:28752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726344"; "Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression."; "PMID:41233554", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12695632/supplementaryFiles"; rdfs:comment "The PREFECT sample constituted N=1,796 cases who had a clinical diagnosis of MDD and were treated for a major depressive episode with electroconvulsive therapy (ECT)6 ." . _:28762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Swedish study that between 2013 and 2017 recruited adults who had received electroconvulsive therapy (ECT) recorded in the Swedish National Quality Register for ECT, inviting registered patients by letter to a telephone interview and blood sampling and recruiting others at Swedish psychiatric hospitals before an ECT series, and that links their DNA, stored at the Karolinska Institutet Biobank, to the register's data on each treatment series, to study predictors of ECT outcome, including genetic ones, and the genetics of severe depressive episodes."; "PMID:33483693", "PMID:36069021"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2880; "participants who provided DNA and had an ECT series for a major depressive episode (subset by indication), 2017"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10113810/"; rdfs:comment "A total of 2,880 participants provided DNA and had received at least one acute ECT treatment series for a major depressive episode." . _:28782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PREFECT"; . a owl:NamedIndividual, ; , , ; "GCST90129578"; "A birth cohort of children enrolled with their mothers within seven days of birth in low-income wards of Mirpur, Dhaka, Bangladesh, from May 2011, into a randomized controlled trial with a two-by-two factorial design, conducted by the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) with the University of Vermont and the University of Virginia, that tested a delayed-dose oral rotavirus vaccine and the replacement of one oral polio vaccine dose by an injectable polio vaccine, and followed the children through their first two years of life to study why oral vaccines underperform in children living with poverty, poor sanitation and overcrowding."; 700; "PROVIDE", "PROVIDE Study", "PROVIDE study"; ; rdfs:label "Performance of Rotavirus and Oral Polio Vaccines in Developing Countries"@en . _:28792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9239263/fullTextXML"; rdfs:comment "A birth cohort of 700 infants from the Mirpur area of Dhaka, Bangladesh was established, following infants for the first 2 years of life." . _:287a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129578"; "Genome-Wide Association Study of Campylobacter-Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response."; "PMID:35420468", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9239263/fullTextXML"; rdfs:comment "Here, we aimed to identify genetic variants associated with host susceptibility to Campylobacter infection using two well-characterized birth cohorts: the Performance of Rotavirus and Oral Polio Vaccines in Developing Countries (PROVIDE) Study (19) and the Cryptosporidiosis Birth Cohort (CBC) (20)." . _:287b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of children enrolled with their mothers within seven days of birth in low-income wards of Mirpur, Dhaka, Bangladesh, from May 2011, into a randomized controlled trial with a two-by-two factorial design, conducted by the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) with the University of Vermont and the University of Virginia, that tested a delayed-dose oral rotavirus vaccine and the replacement of one oral polio vaccine dose by an injectable polio vaccine, and followed the children through their first two years of life to study why oral vaccines underperform in children living with poverty, poor sanitation and overcrowding."; "PMID:25711607", "PMID:35420468", "PMID:38524222"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:287c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 700; "children enrolled with their mothers (child-mother pairs)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4385767/"; rdfs:comment "The PROVIDE study was a randomized controlled clinical trial with two vaccine interventions, which enrolled a birth cohort of 700 children and their mothers, and followed the children for their first 2 years of life." . _:287d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVIDE"; . a owl:NamedIndividual, ; , ; "GCST90244755"; "A population-based registry of identical and non-identical twins and triplets of all ages living in Australia, established in 2006 at the QIMR Berghofer Medical Research Institute in Brisbane, whose members are invited into twin research projects on health and disease; genetic studies drawing on QIMR Berghofer's genotyped twin and family samples report them under the registry's name."; "The acronym QTR also denotes Qingdao Twin Registry (COHO:0000932); this term is Queensland Twin Registry."@en; "QTR", "QTwin", "Qtwin", "Queensland Twin Register", "Queensland Twin Registry Study", "Queensland Twin and Family Registry"; ; rdfs:label "Queensland Twin Registry"@en . _:287e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.qimrb.edu.au/studies/queensland-twin-registry-(qtwin)-study"; rdfs:comment "Queensland Twin Registry (QTwin) Study is a population-based registry of identical and non-identical twins and triplets of all ages, living in Australia." . _:287f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244755"; "Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity."; "PMID:38052102", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10767824/supplementaryFiles"; rdfs:comment "Queensland Twin Registry" . _:28802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based registry of identical and non-identical twins and triplets of all ages living in Australia, established in 2006 at the QIMR Berghofer Medical Research Institute in Brisbane, whose members are invited into twin research projects on health and disease; genetic studies drawing on QIMR Berghofer's genotyped twin and family samples report them under the registry's name."; "PMID:26242864", "PMID:32546850", "https://www.qimrb.edu.au/studies/queensland-twin-registry-(qtwin)-study"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QTR"; . _:28822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QTwin"; . _:28832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Qtwin"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11146; , ; ; "GCST90446233"; "A multi-site US study of African Americans, a sub-study of the Alzheimer's Disease Sequencing Project run by investigators at North Carolina Agricultural and Technical State University, Wake Forest School of Medicine, the University of Miami, Columbia University and Case Western Reserve University, that ascertains African American families affected by Alzheimer's disease through community outreach and collects blood or saliva samples, medical and family histories and cognitive assessments, to identify rare variants, genes and pathways associated with Alzheimer's disease in African Americans."; "REAAADI", "Research in African American Alzheimer's Disease Initiative", "The Research in African American Alzheimer Disease Initiative"; ; rdfs:label "Research in African American Alzheimer Disease Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11146 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11146; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37952397+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed whole-genome sequencing (WGS) and multipoint linkage analyses in 51 multi-generational AA AD families ascertained through the Research in African American Alzheimer Disease Initiative (REAAADI) and the National Institute on Aging Late Onset Alzheimer's disease (NIA-LOAD) Family Based Study." . _:28852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446233"; "Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry."; "PMID:38958117", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11350055/supplementaryFiles"; rdfs:comment "Study participants for the REAAADI were ascertained as part of a family-based study of Alzheimer’s Disease through the John P. Hussman Institute for Human Genomics Outreach and Diversity Core at the University of Miami, Columbia University Alzheimer Disease Research Center, Case Western Reserve University, and Maya Angelou Center for Health Equity at Wake Forest School of Medicine." . _:28862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site US study of African Americans, a sub-study of the Alzheimer's Disease Sequencing Project run by investigators at North Carolina Agricultural and Technical State University, Wake Forest School of Medicine, the University of Miami, Columbia University and Case Western Reserve University, that ascertains African American families affected by Alzheimer's disease through community outreach and collects blood or saliva samples, medical and family histories and cognitive assessments, to identify rare variants, genes and pathways associated with Alzheimer's disease in African Americans."; "PMID:37212603", "PMID:37952397", "PMID:38958117"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REAAADI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11151, _:genid-371333f489424440b12a13b9d98ced822608-genid11153; , ; "GCST90841466"; "A prospective cohort of unselected pregnant women enrolled from 2009 at the nuchal translucency scan in the obstetrics and gynaecology department of Roskilde Hospital, Region Zealand, Denmark, with ultrasound, uterine artery Doppler and blood samples at about 12, 20, 25 and 32 weeks of gestation and outcomes taken from medical records, set up to study whether serum YKL-40 predicts preeclampsia and fetal growth restriction, and later used in genetic studies of gestational diabetes and glucose levels in pregnancy."; 1214; "Roskilde", "Roskilde Cohort"; ; rdfs:label "The Roskilde cohort of pregnant women"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11151 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11153 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11151; "small-for-gestational-age fetus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24861484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To test if serum YKL-40 is increased in women developing preeclampsia or small-for-gestational age fetuses." . _:28892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11153; "preeclampsia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24861484+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To test if serum YKL-40 is increased in women developing preeclampsia or small-for-gestational age fetuses." . _:288a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "Roskilde The Roskilde cohort of pregnant women Fetal - GDM and 2hG Denmark" . _:288b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841466"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "The Roskilde cohort of pregnant women" . _:288c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of unselected pregnant women enrolled from 2009 at the nuchal translucency scan in the obstetrics and gynaecology department of Roskilde Hospital, Region Zealand, Denmark, with ultrasound, uterine artery Doppler and blood samples at about 12, 20, 25 and 32 weeks of gestation and outcomes taken from medical records, set up to study whether serum YKL-40 predicts preeclampsia and fetal growth restriction, and later used in genetic studies of gestational diabetes and glucose levels in pregnancy."; "PMID:24861484", "PMID:42225636", "https://clinicaltrials.gov/api/v2/studies/NCT00836524"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:288d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1214; "unselected pregnant women enrolled at the nuchal translucency scan"; "PMID:24861484"; rdfs:comment "A total of 1214 unselected pregnant women enrolled at nuchal translucency examination between 11(+3) and 13(+6) weeks of gestation." . _:288e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Roskilde"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11160; ; , , ; ; "GCST90090980"; "A breast cancer case-control genetics study, led from Vanderbilt University, that genotyped Chinese women with breast cancer and controls drawn from four population-based studies in urban Shanghai, China: the Shanghai Breast Cancer Study, the Shanghai Breast Cancer Survival Study, the Shanghai Women's Health Study and, for controls only, the Shanghai Endometrial Cancer Study."; 2867; 2285; 5152; "SBCGS", "Shanghai Breast Cancer Genetic Study"; ; rdfs:label "Shanghai Breast Cancer Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11160 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:288f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11160; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8991589/fullTextXML"; rdfs:comment "The SBCGS was conducted in 5152 participants (2867 case participants and 2285 control participants) from the following four population-based studies conducted among Chinese women in urban Shanghai between 1996 and 2005: the Shanghai Breast Cancer Study [25], the Shanghai Breast Cancer Survival Study [26], the Shanghai Endometrial Cancer Study (contributing controls only) [27] and the Shanghai Women’s Health Study [28]." . _:28902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8991589/fullTextXML"; rdfs:comment "The SBCGS was conducted in 5152 participants (2867 case participants and 2285 control participants) from the following four population-based studies conducted among Chinese women in urban Shanghai between 1996 and 2005: the Shanghai Breast Cancer Study [25], the Shanghai Breast Cancer Survival Study [26], the Shanghai Endometrial Cancer Study (contributing controls only) [27] and the Shanghai Women’s Health Study [28]." . _:28912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000799.v1.p1"; rdfs:comment "The Shanghai Breast Cancer Genetics Study (SBCGS) includes data from four population-based studies conducted among Chinese women in urban Shanghai: the Shanghai Breast Cancer Study (SBCS), the Shanghai Breast Cancer Survival Study (SBCSS), the Shanghai Women's Health Study (SWHS), and the Shanghai Endometrial Cancer Study (SECS, contributing controls only)." . _:28922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90090980"; "Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants."; "PMID:32139696", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7057957/supplementaryFiles"; rdfs:comment "The Chinese participants were drawn from Shanghai Breast Cancer Genetics Study 4 (SBCGS), which consists of the Shanghai Breast Cancer Study (SBCS), Shanghai 5 Breast Cancer Survival Study (SBCSS), Shanghai Endometrial Cancer Study 6 (SECS, contributed control data only), and the Shanghai Women’s Health Study 7 (SWHS), four large population-based studies in urban Shanghai." . _:28932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer case-control genetics study, led from Vanderbilt University, that genotyped Chinese women with breast cancer and controls drawn from four population-based studies in urban Shanghai, China: the Shanghai Breast Cancer Study, the Shanghai Breast Cancer Survival Study, the Shanghai Women's Health Study and, for controls only, the Shanghai Endometrial Cancer Study."; "PMID:32139696", "PMID:35395775", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000799.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2867; "cases and controls genotyped in the SBCGS (Chinese women, 1996-2005)"; "PMID:35395775"; rdfs:comment "The SBCGS was conducted in 5152 participants (2867 case participants and 2285 control participants) from the following four population-based studies conducted among Chinese women in urban Shanghai between 1996 and 2005: the Shanghai Breast Cancer Study [25], the Shanghai Breast Cancer Survival Study [26], the Shanghai Endometrial Cancer Study (contributing controls only) [27] and the Shanghai Women’s Health Study [28]." . _:28952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2285; "cases and controls genotyped in the SBCGS (Chinese women, 1996-2005)"; "PMID:35395775"; rdfs:comment "The SBCGS was conducted in 5152 participants (2867 case participants and 2285 control participants) from the following four population-based studies conducted among Chinese women in urban Shanghai between 1996 and 2005: the Shanghai Breast Cancer Study [25], the Shanghai Breast Cancer Survival Study [26], the Shanghai Endometrial Cancer Study (contributing controls only) [27] and the Shanghai Women’s Health Study [28]." . _:28962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5152; "cases and controls genotyped in the SBCGS (Chinese women, 1996-2005)"; "PMID:35395775"; rdfs:comment "The SBCGS was conducted in 5152 participants (2867 case participants and 2285 control participants) from the following four population-based studies conducted among Chinese women in urban Shanghai between 1996 and 2005: the Shanghai Breast Cancer Study [25], the Shanghai Breast Cancer Survival Study [26], the Shanghai Endometrial Cancer Study (contributing controls only) [27] and the Shanghai Women’s Health Study [28]." . _:28972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBCGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11170, _:genid-371333f489424440b12a13b9d98ced822608-genid11172, _:genid-371333f489424440b12a13b9d98ced822608-genid11174, _:genid-371333f489424440b12a13b9d98ced822608-genid11176; , , ; ; "GCST90267402"; "A population-based case-control study of the causes of malignant lymphomas (non-Hodgkin lymphoma, including chronic lymphocytic leukaemia, and Hodgkin lymphoma) among residents of Denmark and Sweden aged 18–74, recruited in 1999–2002, with incident cases identified shortly after diagnosis through a rapid case-ascertainment network and controls sampled from the national population registers, and with a telephone interview and blood sampling."; 3740; 3187; "SCALE", "Scandinavian Lymphoma Etiology", "Scandinavian Lymphoma Etiology Study"; ; rdfs:label "Scandinavian Lymphoma Etiology study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11172 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11174 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11176 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11170; "chronic lymphocytic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15687363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3740 patients diagnosed between October 1, 1999, and August 30, 2002, with incident malignant lymphomas, including non-Hodgkin lymphoma, chronic lymphocytic leukemia, and Hodgkin lymphoma, and 3187 population controls provided detailed information on history of UV exposure and skin cancer and information on other possible risk factors for lymphomas." . _:28992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11172; "Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15687363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3740 patients diagnosed between October 1, 1999, and August 30, 2002, with incident malignant lymphomas, including non-Hodgkin lymphoma, chronic lymphocytic leukemia, and Hodgkin lymphoma, and 3187 population controls provided detailed information on history of UV exposure and skin cancer and information on other possible risk factors for lymphomas." . _:289a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11174; "malignant lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15687363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3740 patients diagnosed between October 1, 1999, and August 30, 2002, with incident malignant lymphomas, including non-Hodgkin lymphoma, chronic lymphocytic leukemia, and Hodgkin lymphoma, and 3187 population controls provided detailed information on history of UV exposure and skin cancer and information on other possible risk factors for lymphomas." . _:289b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11176; "non-Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15687363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3740 patients diagnosed between October 1, 1999, and August 30, 2002, with incident malignant lymphomas, including non-Hodgkin lymphoma, chronic lymphocytic leukemia, and Hodgkin lymphoma, and 3187 population controls provided detailed information on history of UV exposure and skin cancer and information on other possible risk factors for lymphomas." . _:289c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4411784/fullTextXML"; rdfs:comment "Briefly, SCALE is a population-based case–control study of the etiology of malignant lymphomas conducted in Sweden and Denmark 1999 to 2002." . _:289d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267402"; "Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes."; "PMID:36273105", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41375-022-01711-0/MediaObjects/41375_2022_1711_MOESM1_ESM.docx"; rdfs:comment "Scandinavian Lymphoma Etiology GWAS SCALE FL-376 791 Population-based case-control study, Scandinavia Patients with incident primary NHL diagnosed through rapid case-ascertainment network in Sweden and Denmark Frequency matched (age in 10-year intervals, sex and country) population controls prospectively identified every 6 months in nationwide population registers (incidence density sampling)." . _:289e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of the causes of malignant lymphomas (non-Hodgkin lymphoma, including chronic lymphocytic leukaemia, and Hodgkin lymphoma) among residents of Denmark and Sweden aged 18–74, recruited in 1999–2002, with incident cases identified shortly after diagnosis through a rapid case-ascertainment network and controls sampled from the national population registers, and with a telephone interview and blood sampling."; "PMID:15687363", "PMID:21037568", "PMID:25294155"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:289f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3740; "lymphoma patients diagnosed 1999-2002 and population controls who provided interview data"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15687363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We tested this hypothesis in a population-based case-control study in Denmark and Sweden.MethodsA total of 3740 patients diagnosed between October 1, 1999, and August 30, 2002, with incident malignant lymphomas, including non-Hodgkin lymphoma, chronic lymphocytic leukemia, and Hodgkin lymphoma, and 3187 population controls provided detailed information on history of UV exposure and skin cancer and information on other possible risk factors for lymphomas." . _:28a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3187; "lymphoma patients diagnosed 1999-2002 and population controls who provided interview data"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15687363+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We tested this hypothesis in a population-based case-control study in Denmark and Sweden.MethodsA total of 3740 patients diagnosed between October 1, 1999, and August 30, 2002, with incident malignant lymphomas, including non-Hodgkin lymphoma, chronic lymphocytic leukemia, and Hodgkin lymphoma, and 3187 population controls provided detailed information on history of UV exposure and skin cancer and information on other possible risk factors for lymphomas." . _:28a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCALE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11184; , , , , , , , ; ; "GCST90454506"; "A cohort of COVID-19 patients with detailed clinical information, recruited from hospitals across Spain from March to December 2020 and in Latin America from March 2020 to July 2021 by a Spanish research consortium launched in May 2020 to study host genetic factors in COVID-19 and find biomarkers of its course and prognosis."; 11939; "SCOURGE", "Spanish Coalition to Unlock Research of Host Genetics on COVID-19"; ; rdfs:label "Spanish Coalition to Unlock Research on Host Genetics on COVID-19"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11184 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11184; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449485/fullTextXML"; rdfs:comment "The Spanish Coalition to Unlock Research on Host Genetics on COVID-19 (SCOURGE) recruited COVID-19 patients between March and December 2020 from hospitals across Spain and from March 2020 to July 2021 in Latin America (https://www.scourge-covid.org)." . _:28a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449485/fullTextXML"; rdfs:comment "To account for potential heterogeneity in the recruitment and hospitalization criteria across the participating countries, we adjusted the models by groups of the recruitment areas classified into six categories: Brazil, Colombia, Ecuador, Mexico, Paraguay, and Spain." . _:28a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11449485/fullTextXML"; rdfs:comment "The Spanish Coalition to Unlock Research on Host Genetics on COVID-19 (SCOURGE) recruited COVID-19 patients between March and December 2020 from hospitals across Spain and from March 2020 to July 2021 in Latin America (https://www.scourge-covid.org)." . _:28a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454506"; "Novel risk loci for COVID-19 hospitalization among admixed American populations."; "PMID:39361370", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39361370+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this second study nested in the SCOURGE consortium, we conducted a genome-wide association study (GWAS) for COVID-19 hospitalization in admixed Americans, comprising a total of 4702 hospitalized cases recruited by SCOURGE and seven other participating studies in the COVID-19 Host Genetic Initiative." . _:28a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of COVID-19 patients with detailed clinical information, recruited from hospitals across Spain from March to December 2020 and in Latin America from March 2020 to July 2021 by a Spanish research consortium launched in May 2020 to study host genetic factors in COVID-19 and find biomarkers of its course and prognosis."; "PMID:35708486", "PMID:39361370"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11939; "COVID-19 positive patients recruited in Spain from 34 centres (Spanish arm only), 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9652109/fullTextXML"; rdfs:comment "In the SCOURGE study, 11 939 COVID-19 positive cases were recruited from 34 centers (Supplementary Material, Table S1) between March and December 2020." . _:28a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOURGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11192; , ; "PMID:40691366"; "A sample of patients with clinical-onset type 2 diabetes and of non-diabetic control individuals (screened by oral glucose tolerance test) ascertained at the outpatient clinic of Steno Diabetes Center in Copenhagen, Denmark, used in genetic association studies of type 2 diabetes and metabolic traits."; "The acronym SDC also denotes Singapore Diabetic Cohort Study (COHO:0000197); this term is Steno Diabetes Center T2D Cases."@en; "SDC", "SDCC"; rdfs:label "Steno Diabetes Center T2D Cases"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11192 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11192; "type 2 diabetes"; "https://static-content.springer.com/esm/art%3A10.1007%2Fs00125-012-2756-1/MediaObjects/125_2012_2756_MOESM2_ESM.pdf"; rdfs:comment "A sample of clinical-onset type 2 diabetes patients and non-diabetic control individuals were ascertained at the outpatient clinic at Steno Diabetes Center, Copenhagen." . _:28aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1007%2Fs00125-012-2756-1/MediaObjects/125_2012_2756_MOESM2_ESM.pdf"; rdfs:comment "A sample of clinical-onset type 2 diabetes patients and non-diabetic control individuals were ascertained at the outpatient clinic at Steno Diabetes Center, Copenhagen." . _:28ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "SDC Steno Diabetes Center T2D Cases" . _:28ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of patients with clinical-onset type 2 diabetes and of non-diabetic control individuals (screened by oral glucose tolerance test) ascertained at the outpatient clinic of Steno Diabetes Center in Copenhagen, Denmark, used in genetic association studies of type 2 diabetes and metabolic traits."; "PMID:23160641", "https://static-content.springer.com/esm/art%3A10.1007%2Fs00125-012-2756-1/MediaObjects/125_2012_2756_MOESM2_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDC"; . _:28ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11199; , ; "GCST90662913"; "A cohort of adults aged 16 or older with a clinical diagnosis of type 1 diabetes, latent autoimmune diabetes of adulthood or monogenic diabetes, recruited mainly at diabetes outpatient clinics across Scotland between December 2010 and November 2013, whose biosamples were banked and genotyped and who are followed through linkage to national electronic health records, set up to study the genetic determinants, biomarkers and complications of type 1 diabetes."; 6127; "SDRNT1BIO", "Scottish Diabetes Research Network Type 1 Bioresource Study", "Scottish Type 1 Bioresource"; ; rdfs:label "Scottish Diabetes Research Network Type 1 Bioresource"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11199; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42274395+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SDRNT1BIO includes people with a clinical diagnosis of T1D who are aged 16 years or older at enrollment." . _:28b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5582633/unicode"; rdfs:comment "The SDRNT1BIO cohort was established using a cross-sectional design for the study fieldwork with recruitment primarily focused on 10 of 14 NHS Board regions in Scotland (Table 2)." . _:28b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90662913"; "Genetics of C-Peptide and Age at Diagnosis in Type 1 Diabetes."; "PMID:39556808", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11755686/fullTextXML"; rdfs:comment "We performed a meta-GWAS of C-peptide that including four T1D studies: the Scottish Diabetes Research Network Type 1 Bioresource (SDRNT1BIO) (4,16), Diabetes Control and Complications Trial (DCCT) (17,18), Coronary Artery Calcification in T1D (CACTI) (19,20), and Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR) (21)." . _:28b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults aged 16 or older with a clinical diagnosis of type 1 diabetes, latent autoimmune diabetes of adulthood or monogenic diabetes, recruited mainly at diabetes outpatient clinics across Scotland between December 2010 and November 2013, whose biosamples were banked and genotyped and who are followed through linkage to national electronic health records, set up to study the genetic determinants, biomarkers and complications of type 1 diabetes."; "PMID:28338705", "PMID:42274395"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6127; "people with type 1 diabetes who participated at baseline, Dec 2010-Nov 2013"; "https://europepmc.org/api/getPdf?pmcid=PMC5582633"; rdfs:comment "There was sufficient research nurse time for 78% (7593/9731) of all attending eligible patients to be invited and of these 80.7% (6127/7593) participated." . _:28b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDRNT1BIO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11206, _:genid-371333f489424440b12a13b9d98ced822608-genid11208, _:genid-371333f489424440b12a13b9d98ced822608-genid11210; , , ; "GCST90841197"; "A case-control study of upper gastrointestinal cancers conducted from 1997 to 2007 by the Shanxi Cancer Hospital and Institute under contract with the US National Cancer Institute in Shanxi Province, China, in the high-risk western Taihang Mountain area, which enrolled adults newly diagnosed with oesophageal squamous cell carcinoma or gastric adenocarcinoma and treated surgically at the Shanxi Cancer Hospital, with neighbourhood controls matched on age and sex, plus a case-only component, and collected questionnaire data and blood to study genetic and environmental risk factors for these cancers."; 7705; "Shanxi", "Shanxi UGI Cancer Genetics Project"; ; rdfs:label "Shanxi Upper Gastrointestinal Cancer Genetics Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11208 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11210 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11206; "gastric cardia adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21846596+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated questionnaire-based risk factors for UGI cancers in a case-control study from Shanxi Province, China, including 600 esophageal squamous cell carcinomas (ESCCs), 599 gastric cardia adenocarcinomas (GCAs), 316 gastric noncardia adenocarcinomas (GNCAs), and 1514 age- and gender-matched controls." . _:28b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11208; "gastric noncardia adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21846596+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated questionnaire-based risk factors for UGI cancers in a case-control study from Shanxi Province, China, including 600 esophageal squamous cell carcinomas (ESCCs), 599 gastric cardia adenocarcinomas (GCAs), 316 gastric noncardia adenocarcinomas (GNCAs), and 1514 age- and gender-matched controls." . _:28b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11210; "esophageal squamous cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21846596+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated questionnaire-based risk factors for UGI cancers in a case-control study from Shanxi Province, China, including 600 esophageal squamous cell carcinomas (ESCCs), 599 gastric cardia adenocarcinomas (GCAs), 316 gastric noncardia adenocarcinomas (GNCAs), and 1514 age- and gender-matched controls." . _:28b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8141232/fullTextXML"; rdfs:comment "The Shanxi Case-Control study was a neighborhood matched case-control study conducted in Shanxi, China" . _:28b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841197"; "Genome wide association analysis and association of genetic risk and lifestyle with upper gastrointestinal cancer among an endoscopy-screened cohort in China."; "PMID:41963194", "https://ars.els-cdn.com/content/image/1-s2.0-S2095927326003270-mmc1.docx"; rdfs:comment "Briefly, participants were drawn from multiple established studies, including the Shanxi Upper Gastrointestinal Cancer Genetics Project and the Linxian Nutrition Intervention Trial, as well as additional prospective cohort studies incorporating in the validation phase." . _:28ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of upper gastrointestinal cancers conducted from 1997 to 2007 by the Shanxi Cancer Hospital and Institute under contract with the US National Cancer Institute in Shanxi Province, China, in the high-risk western Taihang Mountain area, which enrolled adults newly diagnosed with oesophageal squamous cell carcinoma or gastric adenocarcinoma and treated surgically at the Shanxi Cancer Hospital, with neighbourhood controls matched on age and sex, plus a case-only component, and collected questionnaire data and blood to study genetic and environmental risk factors for these cancers."; "PMID:20729852", "PMID:21846596", "PMID:28680059", "PMID:34022824"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7705; "actual enrolment of the whole project (NCT00341276), all components (2020)"; "https://clinicaltrials.gov/api/v2/studies/NCT00341276"; rdfs:comment "\"enrollmentInfo\":{\"count\":7705,\"type\":\"ACTUAL\"}" . _:28bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shanxi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11217; , ; "GCST90269914"; "A nationwide prospective longitudinal cohort of people with HIV aged 16 or older in Switzerland, established in 1988 as a collaboration of the Swiss university hospitals, large cantonal hospitals, affiliated smaller hospitals and private physicians, who recruit and follow the participants, to improve the health of people with HIV through clinical, translational and basic research."; 22282; "SHCS"; ; rdfs:label "Swiss HIV Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11217 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11217; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/fullTextXML"; rdfs:comment "The Swiss HIV Cohort Study (SHCS) is an ongoing multicentre research project dealing with adults infected with HIV aged 16 years or older residing in Switzerland." . _:28be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/fullTextXML"; rdfs:comment "The Swiss HIV Cohort Study (SHCS) is an ongoing multicentre research project dealing with adults infected with HIV aged 16 years or older residing in Switzerland." . _:28bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269914"; "Africa-specific human genetic variation near CHD1L associates with HIV-1 load."; "PMID:37532928", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/fullTextXML"; rdfs:comment "The Swiss HIV Cohort Study (SHCS) is an ongoing multicentre research project dealing with adults infected with HIV aged 16 years or older residing in Switzerland." . _:28c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide prospective longitudinal cohort of people with HIV aged 16 or older in Switzerland, established in 1988 as a collaboration of the Swiss university hospitals, large cantonal hospitals, affiliated smaller hospitals and private physicians, who recruit and follow the participants, to improve the health of people with HIV through clinical, translational and basic research."; "PMID:37532928", "https://www.shcs.ch/about-shcs/study-design/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22282; "participants ever enrolled since 1988, as of June 2025"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13566368/fullTextXML"; rdfs:comment "By June 2025, 22 282 participants had been enrolled from university and cantonal hospitals, and, since 1996, also from regional hospitals and private practitioners (Figure S1)." . _:28c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11224; , ; "GCST90281365"; "A prospective multicentre cohort of community-dwelling women aged 65 or older in the United States, whose original, white members were recruited from population-based listings in four areas (Baltimore, Maryland; Minneapolis, Minnesota; Portland, Oregon; and the Monongahela Valley, Pennsylvania) between September 1986 and October 1988 and were joined by African American women enrolled at the Year 10 examination in 1997–1998, followed by regular contacts and repeat examinations to study risk factors for osteoporotic fractures."; 10366; "SOF"; ; rdfs:label "Study of Osteoporotic Fractures"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11224 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11224; "osteoporotic fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5390547/fullTextXML"; rdfs:comment "The SOF is a NIH-funded prospective cohort study of older women initially designed to determine risk factors for fractures and falls but expanded to evaluate risk for other outcomes including all-cause and cause-specific mortality in older women." . _:28c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10319806/supplementaryFiles"; rdfs:comment "The cohort is comprised of 9,704 community-dwelling women 65 years 6 old or older recruited from populations-based listings in four U.S. areas: Baltimore, Maryland; Minneapolis, Minnesota; Portland, Oregon; and the Monongahela Valley, Pennsylvania." . _:28c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281365"; "The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses."; "PMID:37619450", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10470292/fullTextXML"; rdfs:comment "GWAS cohorts comprised the UKB, The Rotterdam Study (RS) I&II, Osteoporotic Fractures in Men (MrOS) Study and Study of Osteoporotic Fractures (SOF). mJSW was measured automatically in UKB and manually in RS, MrOS and SOF (see Supplementary Methods)." . _:28c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre cohort of community-dwelling women aged 65 or older in the United States, whose original, white members were recruited from population-based listings in four areas (Baltimore, Maryland; Minneapolis, Minnesota; Portland, Oregon; and the Monongahela Valley, Pennsylvania) between September 1986 and October 1988 and were joined by African American women enrolled at the Year 10 examination in 1997–1998, followed by regular contacts and repeat examinations to study risk factors for osteoporotic fractures."; "PMID:28465840", "PMID:37402774", "PMID:37619450"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10366; "women enrolled in total (9704 white women 1986-1988 plus 662 African-American women at Year 10), 1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5390547/fullTextXML"; rdfs:comment "Subsequently, at the Year 10 SOF examination conducted between 1997 and 1998, 662 African-American women were enrolled in the study increasing the total cohort enrollment to 10,366 women [11]." . _:28c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOF"; . a owl:NamedIndividual, ; , ; ; "GCST90726344"; "A cohort of the Swedish Twin Registry made up of twins born in Sweden between 1959 and 1985, who were invited to a web-based health screening survey in 2005–2006 and have since been followed through linkage to national health registers and further web surveys."; 25313; "STAGE", "Screening Twin Adults: Genes and Environment", "Swedish Twin Study of Adults: Genes and Environment"; ; rdfs:label "Study of Twin Adults: Genes and Environment"@en . _:28c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12859210/fullTextXML"; rdfs:comment "The 'Study of Twin Adults: Genes and Environment’ (STAGE) is a cohort of the Swedish Twin Registry at the Karolinska Institute in Stockholm, of approximately 32,000 twin individuals, born between 1959 and 1985." . _:28ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12859210/fullTextXML"; rdfs:comment "The 'Study of Twin Adults: Genes and Environment’ (STAGE) is a cohort of the Swedish Twin Registry at the Karolinska Institute in Stockholm, of approximately 32,000 twin individuals, born between 1959 and 1985." . _:28cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726344"; "Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression."; "PMID:41233554", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12695632/supplementaryFiles"; rdfs:comment "Study of Twin Adults: Genes and Environment (STAGE): This cohort consisted of those born between 1959 and 1985 from the Swedish Twin Registry10 ." . _:28cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of the Swedish Twin Registry made up of twins born in Sweden between 1959 and 1985, who were invited to a web-based health screening survey in 2005–2006 and have since been followed through linkage to national health registers and further web surveys."; "PMID:35580588", "PMID:38446452", "PMID:40425723", "PMID:41624966"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25313; "twins born 1959-1985 who responded to the 2005-2006 web survey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10918580/fullTextXML"; rdfs:comment "Namely, we used the Study of Twin Adults: Genes and Environment (STAGE) comprising 25 313 twins (born 1959-1985) surveyed 2005 to 2006" . _:28ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11237; , ; ; "GCST90244577"; "A multisite, prospective, randomised, multistep clinical trial, funded by the US National Institute of Mental Health through the University of Texas Southwestern Medical Center at Dallas, that from 2001 enrolled adult outpatients aged 18 to 75 with nonpsychotic major depressive disorder from primary and specialty (psychiatric) care practices across the United States, to determine which treatments work best for those who do not respond adequately to initial treatment with citalopram."; 4041; "STAR*D", "Sequential Treatment Alternatives to Relieve Depression"; ; rdfs:label "Sequenced Treatment Alternatives to Relieve Depression"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11237 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11237; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15061154+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "STAR*D is a multisite, prospective, randomized, multistep clinical trial of outpatients with nonpsychotic major depressive disorder." . _:28d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/supplementaryFiles"; rdfs:comment "The study included 4,041 treatment-seeking adult outpatients, recruited in 18 primary care and 23 psychiatric clinical sites across the United States." . _:28d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244577"; "Identifying the Common Genetic Basis of Antidepressant Response."; "PMID:35712048", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9117153/fullTextXML"; rdfs:comment "To avoid sample overlap between the major depression GWAS and the antidepressant response cohorts in this study, we used major depression GWAS summary statistics excluding overlapping cohorts (STAR∗D [Sequenced Treatment Alternatives to Relieve Depression], GENPOD [GENetic and clinical Predictors Of treatment response in Depression], GENDEP [Genome Based Therapeutic Drugs for Depression], PFZ [Pfizer])." . _:28d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multisite, prospective, randomised, multistep clinical trial, funded by the US National Institute of Mental Health through the University of Texas Southwestern Medical Center at Dallas, that from 2001 enrolled adult outpatients aged 18 to 75 with nonpsychotic major depressive disorder from primary and specialty (psychiatric) care practices across the United States, to determine which treatments work best for those who do not respond adequately to initial treatment with citalopram."; "PMID:15061154", "PMID:27519822", "https://clinicaltrials.gov/api/v2/studies/NCT00021528"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4041; "adult outpatients enrolled at 18 primary care and 23 psychiatric sites"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10416089/"; rdfs:comment "The study included 4,041 treatment-seeking adult outpatients, recruited in 18 primary care and 23 psychiatric clinical sites across the United States." . _:28d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STAR*D"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11244; , ; "GCST90013445"; "A Finnish collection of people with type 1 diabetes, made up of cases only (without family members or controls), that has contributed independent cases to international ImmunoChip genetic studies of type 1 diabetes."; 249; "T1DGEN"; ; rdfs:label "Tyypin 1 Diabeteksen Genetiikka"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11244 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11244; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5719131/fullTextXML"; rdfs:comment "We analysed data from six cohorts, independent cases from the UK Genetic Resource Investigating Diabetes (GRID) cohort [2], the Northern Irish GRID (NI) cohort (used here for the first time), and the Finnish IDDMGEN (Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen) and T1DGEN (Tyypin 1 Diabeteksen Genetiikka) cohorts [10]" . _:28d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5719131/fullTextXML"; rdfs:comment "We thank the University of Virginia for their support in genotyping samples from the Northern Irish GRID cohort, the IDDMGEN and T1DGEN cohorts from Finland and the Warren cohort using the T1DGC grant (U01 DK062418) and JDRF grant (JDRF 9-2011-530)." . _:28d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "These studies include the Type 1 Diabetes Genetics Consortium (T1DGC), British 1958 Birth Cohort, Genetic Resource Investigating Diabetes (GRID), Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis (CLEAR), Epidemiology of Diabetes Interventions and Complications (EDIC), Genetics of Kidneys and Diabetes Study (GoKinD), New York Cancer Project (NYCP), SEARCH for Diabetes in Youth study (SEARCH), Type 1 Diabetes TrialNet study (TrialNet), Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen (IDDMGEN), Tyypin 1 Diabeteksen Genetiikka (T1DGEN), Northern Ireland GRID Collection, Northern Ireland Young Hearts Project, Hvidoere Study Group on Childhood Diabetes (HSG), and International HapMap Project." . _:28d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish collection of people with type 1 diabetes, made up of cases only (without family members or controls), that has contributed independent cases to international ImmunoChip genetic studies of type 1 diabetes."; "PMID:28983737", "PMID:34127860"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 249; "type 1 diabetes cases genotyped on ImmunoChip (analysed subset)"; "https://europepmc.org/api/getPdf?pmcid=PMC5719131"; rdfs:comment "T1DGEN Finland Independent 249 249 16 (10, 24) 156,343" . _:28da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T1DGEN"; . a owl:NamedIndividual, ; , ; ; "GCST90568440"; "A population-based longitudinal study, run from Karolinska Institutet, of all twins born in Sweden between May 1985 and December 1986, identified through the Swedish Twin Registry, in which the twins and their parents completed questionnaires in four waves from 1994 to 2005, when the twins were aged 8–9, 13–14, 16–17 and 19–20, with a further follow-up at age 26, to study how genes and environments contribute to the development of health and behavioural problems from childhood to adulthood."; 2960; "Swedisch Twin study of CHild and Adolescent Development", "Swedish Twin study of Child and Adolescent Development", "TCHAD", "Twin Study of Child and Adolescent Development", "Twin study of CHild and Adolescent Development"; ; rdfs:label "Swedish Twin study of CHild and Adolescent Development"@en . _:28db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6133086/fullTextXML"; rdfs:comment "Six large population-based cohorts (NTR and GenR from the Netherlands, TEDS from the UK, CATSS and TCHAD from Sweden and FinnTwin12 from Finland) analysed the co-occurrence of aggression measures with other psychopathologies." . _:28dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5581816/fullTextXML"; rdfs:comment "A population-based prospective cohort study including all twins from the Swedish Twin Registry who were born in Sweden 1985–1986 (N = 2960) [19] was conducted. These twins were invited to participate in a longitudinal Twin study of CHild and Adolescent Development (TCHAD), see [20]." . _:28dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM1_ESM.pdf"; rdfs:comment "The Swedish Twin study of Child and Adolescent Development (TCHAD) was supported by the 658 Swedish Council for Working Life and the Swedish Research Council (Medicine and SIMSAM)." . _:28de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal study, run from Karolinska Institutet, of all twins born in Sweden between May 1985 and December 1986, identified through the Swedish Twin Registry, in which the twins and their parents completed questionnaires in four waves from 1994 to 2005, when the twins were aged 8–9, 13–14, 16–17 and 19–20, with a further follow-up at age 26, to study how genes and environments contribute to the development of health and behavioural problems from childhood to adulthood."; "PMID:17539366", "PMID:28638965", "PMID:29845340", "PMID:37289452", "https://ki.se/en/meb/twin-study-of-child-and-adolescent-development-tchad"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2960; "twin children born May 1985-Dec 1986 in the cohort (1480 pairs), 1994"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10251215/unicode"; rdfs:comment "Participants were originally included in a population-based longitudinal twin study, the Twin Study of Child and Adolescent Development (TCHAD), comprising all twins born in Sweden between May 1985 and December 1986 (2960 children in total)." . _:28e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCHAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11257; , ; "GCST90104613"; "A prospective, multicentre, longitudinal observational cohort study, led from the University of California, San Francisco, with funding from the US National Institute of Neurological Disorders and Stroke, that from February 2014 to July 2018 enrolled patients presenting within 24 hours of a traumatic brain injury who received a clinically indicated head CT scan, together with orthopaedic trauma controls, at 18 level I trauma centres in the United States, and collected clinical, neuroimaging, blood biomarker, genetic and outcome data to improve the characterisation, diagnosis and prognosis of traumatic brain injury."; 2996; "TRACK-TBI", "Transforming Research and Clinical Knowledge in TBI"; ; rdfs:label "Transforming Research and Clinical Knowledge in Traumatic Brain Injury"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11257 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11257; "traumatic brain injury"; "https://clinicaltrials.gov/api/v2/studies/NCT02119182"; rdfs:comment "The Investigators are enrolling patients within 24 hours of injury who present to a TRACK-TBI site with a brain injury that meets ACRM criteria and receives a clinically indicated head CT." . _:28e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8927841/fullTextXML"; rdfs:comment "Individuals included were recruited between 2000 and 2018 at 78 centres in Europe (CENTER-TBI, Cambridge, and Turku) and the US (TRACK-TBI and MGB) (Supplementary Methods)." . _:28e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104613"; "A genome-wide association study of outcome from traumatic brain injury."; "PMID:35301180", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8927841/supplementaryFiles"; rdfs:comment "The majority of patients in the US cohort were recruited between 2014 and 2018 to TRACK-TBI, a NIH-NINDS funded prospective multicenter study aimed at improving the characterization of TBI through the collection of clinical and genetic data, plasma biomarkers, as well as neuroimaging and other multidimensional outcomes." . _:28e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre, longitudinal observational cohort study, led from the University of California, San Francisco, with funding from the US National Institute of Neurological Disorders and Stroke, that from February 2014 to July 2018 enrolled patients presenting within 24 hours of a traumatic brain injury who received a clinically indicated head CT scan, together with orthopaedic trauma controls, at 18 level I trauma centres in the United States, and collected clinical, neuroimaging, blood biomarker, genetic and outcome data to improve the characterisation, diagnosis and prognosis of traumatic brain injury."; "PMID:35301180", "PMID:36939699", "https://clinicaltrials.gov/api/v2/studies/NCT02119182"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2996; "actual enrolment registered for the TRACK-TBI study (NCT02119182), 2014-2018"; "https://clinicaltrials.gov/api/v2/studies/NCT02119182"; rdfs:comment "\"enrollmentInfo\":{\"count\":2996,\"type\":\"ACTUAL\"}" . _:28e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRACK-TBI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11264; , , , , ; "GCST90013445"; "A cohort of people with or at risk of type 1 diabetes recruited since 2001 by Type 1 Diabetes TrialNet, an international network of clinical research centres established by the US National Institute of Diabetes and Digestive and Kidney Diseases: chiefly relatives of people with type 1 diabetes who are screened for islet autoantibodies and followed for progression in its Pathway to Prevention natural-history study, and people at risk of or newly diagnosed with type 1 diabetes enrolled in its trials aimed at delaying or preventing the disease."; 250000; "TrialNet", "Type 1 Diabetes TrialNet Research Group", "Type 1 Diabetes TrialNet Study Group", "Type 1 Diabetes TrialNet study"; ; rdfs:label "Type 1 Diabetes TrialNet"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11264 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11264; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12178618/fullTextXML"; rdfs:comment "TrialNet actively screens relatives of individuals with type 1 diabetes, but other individuals who do not have a relative with the disease may join TN01 if they are found to have positive islet autoantibodies in an outside laboratory." . _:28e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12178618/fullTextXML"; rdfs:comment "Currently, TrialNet includes 17 clinical centers located in the U.S., Canada, and Australia." . _:28e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "We acknowledge the support of the Type 1 Diabetes TrialNet Study Group (https://www.trialnet.org), which identified study participants and provided samples and follow-up data for this study." . _:28ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with or at risk of type 1 diabetes recruited since 2001 by Type 1 Diabetes TrialNet, an international network of clinical research centres established by the US National Institute of Diabetes and Digestive and Kidney Diseases: chiefly relatives of people with type 1 diabetes who are screened for islet autoantibodies and followed for progression in its Pathway to Prevention natural-history study, and people at risk of or newly diagnosed with type 1 diabetes enrolled in its trials aimed at delaying or preventing the disease."; "PMID:40272284"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 250000; "relatives screened for islet autoantibodies in Pathway to Prevention (stated as more than 250,000), 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12178618/fullTextXML"; rdfs:comment "The findings from TN01 have proven to be reproducible across multiple cohorts in different intervention studies.In TN01 (renamed Pathway to Prevention) >250,000 relatives of individuals with type 1 diabetes have been screened for autoantibodies (Fig. 1), and Pathway to Prevention remains the largest long-running cohort study of both children and adults at risk for disease with 8,937 individuals enrolled in monitoring." . _:28ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TrialNet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11271; , ; ; "GCST90129576"; "A population-based breast cancer case-control study run from the University of California, Irvine, whose cases were breast cancer patients diagnosed in Orange County, California, in the year from March 1994, ascertained through the population-based Cancer Surveillance Program of Orange County and enrolled as probands in the UCI population-based breast and ovarian cancer family registry, and whose controls were Orange County residents recruited in 1998–2003 by random digit dialling and frequency-matched to cases by age and race/ethnicity."; 1567; "UCIBCS"; ; rdfs:label "UCI Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11271 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11271; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/supplementaryFiles"; rdfs:comment "All cases diagnosed in Orange County, California from 1994-1995; ascertained through the population-based Cancer Surveillance Program of Orange County California (CSPOC)" . _:28ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/supplementaryFiles"; rdfs:comment "All cases diagnosed in Orange County, California from 1994-1995; ascertained through the population-based Cancer Surveillance Program of Orange County California (CSPOC)" . _:28ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The UCIBCS component of this research was supported by the NIH [CA58860, CA92044] and the Lon V Smith Foundation [LVS39420]." . _:28f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based breast cancer case-control study run from the University of California, Irvine, whose cases were breast cancer patients diagnosed in Orange County, California, in the year from March 1994, ascertained through the population-based Cancer Surveillance Program of Orange County and enrolled as probands in the UCI population-based breast and ovarian cancer family registry, and whose controls were Orange County residents recruited in 1998–2003 by random digit dialling and frequency-matched to cases by age and race/ethnicity."; "PMID:10667470", "PMID:10882857", "PMID:21194473", "PMID:22267197"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1567; "breast cancer probands of the UCI population-based family registry (the study's case series)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10667470+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this study, we report data on 1567 breast cancer and 328 ovarian cancer probands." . _:28f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCIBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11278, _:genid-371333f489424440b12a13b9d98ced822608-genid11280; , ; ; "GCST90129576"; "A cohort of current and former radiologic technologists in the United States, women and men certified by the American Registry of Radiologic Technologists for at least two years between 1926 and 1982, assembled in 1982 by the US National Cancer Institute with the University of Minnesota and the Registry and followed through four mailed questionnaires (1983–1989, 1994–1998, 2003–2005 and 2012–2014), to assess risks of cancer and other diseases from protracted low-dose occupational and personal medical ionising radiation and other exposures."; 110373; "Rad Tech Study", "U.S. Radiologic Technologists Cohort", "US Radiologic Technologist Study", "US Radiologic Technologists Cohort", "US Radiologic Technologists Study", "USRT"; ; rdfs:label "U.S. Radiologic Technologists Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11278 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11280 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11278; "solar ultraviolet radiation exposures"; "https://dceg.cancer.gov/research/who-we-study/cohorts/us-radiologic-technologists"; rdfs:comment "Radiologic Technologists (USRT) Study—also known as the Rad Tech Study—is a collaborative effort between the University of Minnesota, the National Cancer Institute Radiation Epidemiology Branch, and the American Registry of Radiologic Technologists (ARRT) to investigate potential radiation-related health effects from low-dose occupational radiation exposure." . _:28f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11280; "low-dose occupational ionizing radiation exposure", "personal medical ionizing radiation exposures"; "https://dceg.cancer.gov/research/who-we-study/cohorts/us-radiologic-technologists"; rdfs:comment "Radiologic Technologists (USRT) Study—also known as the Rad Tech Study—is a collaborative effort between the University of Minnesota, the National Cancer Institute Radiation Epidemiology Branch, and the American Registry of Radiologic Technologists (ARRT) to investigate potential radiation-related health effects from low-dose occupational radiation exposure." . _:28f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90129576"; "Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women."; "PMID:35418701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9007944/fullTextXML"; rdfs:comment "The USRT Study was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA." . _:28f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of current and former radiologic technologists in the United States, women and men certified by the American Registry of Radiologic Technologists for at least two years between 1926 and 1982, assembled in 1982 by the US National Cancer Institute with the University of Minnesota and the Registry and followed through four mailed questionnaires (1983–1989, 1994–1998, 2003–2005 and 2012–2014), to assess risks of cancer and other diseases from protracted low-dose occupational and personal medical ionising radiation and other exposures."; "PMID:29992993", "https://dceg.cancer.gov/research/who-we-study/cohorts/us-radiologic-technologists"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 110373; "technologists who completed at least one of the first two questionnaires (study participants), 1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6041262/fullTextXML"; rdfs:comment "A total of 110,373 radiological technologists completed at least one of the first two questionnaires and are considered study participants." . _:28f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USRT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11286; , ; ; "GCST90502911"; "A prospective clinical and genetic biorepository at Vanderbilt University Medical Center in Nashville, Tennessee, founded in 2011, that enrols adults scheduled for catheter ablation of atrial fibrillation, recording their medical history, pre-ablation imaging and procedure details, collecting blood for DNA at the time of ablation and following them for arrhythmia recurrence at 3, 6 and 12 months, to identify predictors of response to ablation and to support research on the mechanisms of atrial fibrillation."; 2478; "VAFAR", "Vanderbilt AF Ablation Registry"; ; rdfs:label "Vanderbilt Atrial Fibrillation Ablation Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11286 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11286; "atrial fibrillation"; "https://clinicaltrials.gov/api/v2/studies/NCT02404415"; rdfs:comment "The study population consists of patients at least 18 years of age who are scheduled for AF ablation at Vanderbilt University." . _:28fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000997.v6.p3"; rdfs:comment "Vanderbilt University, Nashville, TN,USA." . _:28fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Vanderbilt Atrial Fibrillation Ablation Registry (VAFAR)" . _:28fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective clinical and genetic biorepository at Vanderbilt University Medical Center in Nashville, Tennessee, founded in 2011, that enrols adults scheduled for catheter ablation of atrial fibrillation, recording their medical history, pre-ablation imaging and procedure details, collecting blood for DNA at the time of ablation and following them for arrhythmia recurrence at 3, 6 and 12 months, to identify predictors of response to ablation and to support research on the mechanisms of atrial fibrillation."; "PMID:28880943", "https://clinicaltrials.gov/api/v2/studies/NCT02404415", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000997.v6.p3"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:28fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2478; "actual enrolment in the registry (NCT02404415) since October 2011 (2026)"; "https://clinicaltrials.gov/api/v2/studies/NCT02404415"; rdfs:comment "\"enrollmentInfo\":{\"count\":2478,\"type\":\"ACTUAL\"}" . _:28fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VAFAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11293, _:genid-371333f489424440b12a13b9d98ced822608-genid11295, _:genid-371333f489424440b12a13b9d98ced822608-genid11297; , ; ; "GCST90444478"; "A longitudinal behavioural genetic study of cognitive and brain aging in men, and later of early risk of mild cognitive impairment and Alzheimer's disease, whose participants are twins randomly selected from the Vietnam Era Twin Registry of male twin pairs who both served in the US military between 1965 and 1975, recruited in their 50s and assessed at two sites, San Diego and Boston, from 2003, with follow-up waves every 5 to 6 years."; 1608; "The Vietnam Era Twin Study of Aging", "VETSA"; ; rdfs:label "Vietnam Era Twin Study of Aging"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11293 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11295 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11297 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:28ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11293; "military service during the Vietnam era (1965–1975)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11257108/fullTextXML"; rdfs:comment "Briefly, VETSA includes 1608 men who were recruited from the Vietnam Era Twin Registry (VETR), a nationally representative registry, which includes male twins, who were in the military at some time during the Vietnam era (1965–1975)." . _:29002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11295; "mild cognitive impairment"; "https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/current-status-of-the-vietnam-era-twin-study-of-aging-vetsa/F0C33CE51AC366CD436926EA2CE42092"; rdfs:comment "VETSA began as a longitudinal behavioral genetic study of cognitive and brain aging, but as the participants have aged, its primary focus has shifted to early identification of risk for mild cognitive impairment (MCI) and Alzheimer’s disease (AD)." . _:29012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11297; "Alzheimer's disease"; "https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/current-status-of-the-vietnam-era-twin-study-of-aging-vetsa/F0C33CE51AC366CD436926EA2CE42092"; rdfs:comment "VETSA began as a longitudinal behavioral genetic study of cognitive and brain aging, but as the participants have aged, its primary focus has shifted to early identification of risk for mild cognitive impairment (MCI) and Alzheimer’s disease (AD)." . _:29022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/supplementaryFiles"; rdfs:comment "VETSA participants live throughout the US." . _:29032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90444478"; "Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration."; "PMID:39251807", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11385583/supplementaryFiles"; rdfs:comment "In short, genotypes for VETSA participants were generated using the Illumina HumanOmniExpress-24 v1.0A BeadChip." . _:29042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal behavioural genetic study of cognitive and brain aging in men, and later of early risk of mild cognitive impairment and Alzheimer's disease, whose participants are twins randomly selected from the Vietnam Era Twin Registry of male twin pairs who both served in the US military between 1965 and 1975, recruited in their 50s and assessed at two sites, San Diego and Boston, from 2003, with follow-up waves every 5 to 6 years."; "PMID:23110957", "PMID:31933447", "PMID:39036434"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1608; "men enrolled across waves 1-3 (1237 at wave 1 plus replenishment twins)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11257108/fullTextXML"; rdfs:comment "Briefly, VETSA includes 1608 men who were recruited from the Vietnam Era Twin Registry (VETR), a nationally representative registry, which includes male twins, who were in the military at some time during the Vietnam era (1965–1975)." . _:29062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VETSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11304; , ; "GCST90449062"; "A case-control collection from Barcelona, Spain, of European-ancestry patients with non-lacunar ischaemic stroke confirmed by neuroimaging within 7 days, a subset of those enrolled in the Genetic contribution to functional Outcome and Disability after Stroke (GODS) project, and of controls over 40 years old without ischaemic stroke, collected in Barcelona primary care centres and Spanish network hospitals for the ISSYS and GRECOS studies, genotyped together and used as a case-control set in ischaemic stroke genome-wide association studies."; 545; 320; "Barcelona GWAs Study", "VHIR-FMT-BARCELONA"; ; rdfs:label "VHIR-FMT-Barcelona"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11304 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11304; "ischemic stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "VHIR-FMT-Barcelona The Barcelona cohort is a subset of Caucasian Ischemic stroke subjects that were enrolled as a part of the Genetic contribution to functional Outcome and Disability after Stroke (GODs) project." . _:29082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4912948/unicode"; rdfs:comment "VHIR-FMT-BARCELONA Spain HumanCore ExomeChip EUR 545 320" . _:29092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449062"; "Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits."; "PMID:39537608", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11561119/supplementaryFiles"; rdfs:comment "Stroke Malik et al., 2018 Nature Genetics METASTROKE, NINDS-SIGN, CHARGE, EPIC, AIDHS/SDS, VHIR-FMT-Barcelona, Biobank Japan" . _:290a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection from Barcelona, Spain, of European-ancestry patients with non-lacunar ischaemic stroke confirmed by neuroimaging within 7 days, a subset of those enrolled in the Genetic contribution to functional Outcome and Disability after Stroke (GODS) project, and of controls over 40 years old without ischaemic stroke, collected in Barcelona primary care centres and Spanish network hospitals for the ISSYS and GRECOS studies, genotyped together and used as a case-control set in ischaemic stroke genome-wide association studies."; "PMID:26708676", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:290b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 545; "ischaemic stroke cases and controls genotyped for the NINDS-SIGN GWAS (analysed set)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4912948/unicode"; rdfs:comment "VHIR-FMT-BARCELONA Spain HumanCore ExomeChip EUR 545 320" . _:290c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 320; "ischaemic stroke cases and controls genotyped for the NINDS-SIGN GWAS (analysed set)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4912948/unicode"; rdfs:comment "VHIR-FMT-BARCELONA Spain HumanCore ExomeChip EUR 545 320" . _:290d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VHIR-FMT-BARCELONA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11312; , ; ; "GCST90568440"; "A population-based, cohort-sequential longitudinal study of European-ancestry twin pairs born in 1974-1983, ascertained at ages 8 to 16 through the state and participating private schools of Virginia, United States, who with their parents were assessed by psychiatric interviews and questionnaires in four waves about 18 months apart and again in their mid-20s, to study genetic and environmental influences on the development of child and adolescent psychopathology and substance use."; 2775; "GEDI Virginia Twin Study on Adolescent Behavioral Development", "VTSABD", "Virginia Twin Study on Adolescent Behavioral Development"; ; rdfs:label "Virginia Twin Study of Adolescent Behavioral Development"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11312 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:290e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11312; "child psychiatric disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9294370+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Virginia Twin Study of Adolescent Behavioral Development is a cohort-longitudinal epidemiological study that uses the genetic twin design to study the development and maintenance of child psychiatric disorders." . _:290f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3609892/"; rdfs:comment "The VTSABD is a cohort-longitudinal study of twins born between 1974 and 1983 ascertained primarily through the state school system and participating private schools in Virginia." . _:29102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568440"; "Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes."; "PMID:40962958", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02295-y/MediaObjects/41588_2025_2295_MOESM7_ESM.xlsx"; rdfs:comment "Virginia Twin Study of Adolescent Behavioral Development VTSABD" . _:29112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, cohort-sequential longitudinal study of European-ancestry twin pairs born in 1974-1983, ascertained at ages 8 to 16 through the state and participating private schools of Virginia, United States, who with their parents were assessed by psychiatric interviews and questionnaires in four waves about 18 months apart and again in their mid-20s, to study genetic and environmental influences on the development of child and adolescent psychopathology and substance use."; "PMID:23461817", "PMID:9294370", "PMID:9413795"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2775; "twin children in 1412 families who took part in wave 1"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3609892/unicode"; rdfs:comment "Of 1894 putative twin pairs, 1412 families (75%, 2775 children) participated and were included in the first wave of data collection." . _:29132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VTSABD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11319; , ; ; "GCST90502911"; "A clinical and genetic registry at Vanderbilt University Medical Center in Nashville, Tennessee, United States, founded in 2001, that prospectively enrols patients with atrial fibrillation together with affected and unaffected family members, recording a detailed medical and drug history, an atrial fibrillation symptom severity assessment and a blood sample for DNA, and follows them with serial symptom assessments; its early-onset cases were whole-genome sequenced by the NHLBI TOPMed programme."; 1134; "VU_AF", "Vanderbilt AF Registry", "Vanderbilt Genetic Basis of Atrial Fibrillation"; ; rdfs:label "Vanderbilt Atrial Fibrillation Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11319; "atrial fibrillation"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001032.v7.p2"; rdfs:comment "Patients with AF and family members are prospectively enrolled." . _:29152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6123807/fullTextXML"; rdfs:comment "We genotyped novel atrial fibrillation variants in an atrial fibrillation sample set (759 cases and 759 controls) from the Vanderbilt Atrial Fibrillation Registry, a clinical and genetic registry at the Vanderbilt University Medical Center in Nashville, Tennessee." . _:29162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Vanderbilt Genetic Basis of Atrial Fibrillation (VU_AF)" . _:29172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical and genetic registry at Vanderbilt University Medical Center in Nashville, Tennessee, United States, founded in 2001, that prospectively enrols patients with atrial fibrillation together with affected and unaffected family members, recording a detailed medical and drug history, an atrial fibrillation symptom severity assessment and a blood sample for DNA, and follows them with serial symptom assessments; its early-onset cases were whole-genome sequenced by the NHLBI TOPMed programme."; "PMID:30271950", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001032.v7.p2"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1134; "consented subjects in the registry's TOPMed dbGaP study"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001032.v7.p2"; rdfs:comment "Total number of consented subjects: 1134" . _:29192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VU_AF"; . a owl:NamedIndividual, ; , , ; "GCST90841194"; "A research cohort of customers of WeGene, a direct-to-consumer genetic testing company based in Shenzhen, China, who were genotyped from saliva on microarrays through the WeGene Personal Genome Services and consented to take part in research online, answering surveys posted on WeGene's online platform, website and WeChat channels."; 5952; "WeGene", "WeGene Biobank", "WeGene Personal Genome Services"; ; rdfs:label "WeGene cohort"@en . _:291a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11755739/fullTextXML"; rdfs:comment "Our MR design was applied to data on 3,041 individuals (1,826 males and 1,215 females) collected from the customer database of a leading private genetic testing company in China, WeGene." . _:291b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841194"; "Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction."; "PMID:42009823", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13175889/fullTextXML"; rdfs:comment "We enrolled 5,952 Han Chinese participants (see Supplementary Note 1 for myopia status distribution), who had given informed consent and undergone genotyping as part of the WeGene Personal Genome Services." . _:291c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research cohort of customers of WeGene, a direct-to-consumer genetic testing company based in Shenzhen, China, who were genotyped from saliva on microarrays through the WeGene Personal Genome Services and consented to take part in research online, answering surveys posted on WeGene's online platform, website and WeChat channels."; "PMID:28442769", "PMID:34457340", "PMID:39359028", "PMID:42009823"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:291d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5952; "analysed subset: participants in the myopia GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13175889/fullTextXML"; rdfs:comment "We enrolled 5,952 Han Chinese participants (see Supplementary Note 1 for myopia status distribution), who had given informed consent and undergone genotyping as part of the WeGene Personal Genome Services." . _:291e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WeGene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11331, _:genid-371333f489424440b12a13b9d98ced822608-genid11333; , ; "GCST90270120"; "A population-based longitudinal cohort study of the University of Wisconsin-Madison in which Wisconsin state employees aged 30 to 60, sampled from state payroll files, answered a mailed sleep and health survey in 1988, after which all respondents at high risk of sleep-disordered breathing by self-reported snoring, with an age- and sex-matched random sample of the others, were invited to overnight in-laboratory polysomnography repeated at about 4-year intervals, to study the natural history and health consequences of sleep-disordered breathing and other sleep disorders."; 1545; "University of Wisconsin Sleep Cohort Study", "WSC", "WSCS", "Wisconsin Sleep Cohort"; ; rdfs:label "Wisconsin Sleep Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11331 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:291f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11331; "sleep-disordered breathing"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2858234/unicode"; rdfs:comment "As the epidemiological project of the SCOR application from the University of Wisconsin, we proposed the Wisconsin Sleep Cohort Study (WSCS), a longitudinal epidemiology study designed to investigate the natural history of SDB by conducting overnight PSG, repeated at 4-year intervals, on a random sample of the general population." . _:29202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11333; "sleep apnea"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2858234/unicode"; rdfs:comment "As the epidemiological project of the SCOR application from the University of Wisconsin, we proposed the Wisconsin Sleep Cohort Study (WSCS), a longitudinal epidemiology study designed to investigate the natural history of SDB by conducting overnight PSG, repeated at 4-year intervals, on a random sample of the general population." . _:29212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2858234/"; rdfs:comment "Payroll files of Wisconsin state employees served as the sampling frame." . _:29222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270120"; "The genetic etiology of periodic limb movement in sleep."; "PMID:35670608", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35670608+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association study (GWAS) of periodic limb movements in sleep (PLMS) using a joint analysis (i.e., discovery, replication, and joint meta-analysis) of four cohorts (MrOS, the Wisconsin Sleep Cohort Study, HypnoLaus, and MESA), comprised of 6843 total subjects." . _:29232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort study of the University of Wisconsin-Madison in which Wisconsin state employees aged 30 to 60, sampled from state payroll files, answered a mailed sleep and health survey in 1988, after which all respondents at high risk of sleep-disordered breathing by self-reported snoring, with an age- and sex-matched random sample of the others, were invited to overnight in-laboratory polysomnography repeated at about 4-year intervals, to study the natural history and health consequences of sleep-disordered breathing and other sleep disorders."; "PMID:19743755", "PMID:35670608"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1545; "people who took part in the baseline in-laboratory sleep study"; "https://europepmc.org/api/getPdf?pmcid=PMC10091093"; rdfs:comment "There were 1545 individuals (53% of those invited) who agreed to come in for a baseline sleep study (the primary reason for non-participation was the burden of being away from home overnight)." . _:29252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WSC"; . _:29262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WSCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11341; , ; "GCST90502757"; "A community-based, multi-ethnic, cross-sectional genetic epidemiologic study of early childhood oral health, run by the University of North Carolina at Chapel Hill, that enrolled children aged 3 to 5 attending public preschools (Head Start programmes) across North Carolina, United States, from August 2016 to February 2019, examining their teeth in the preschools and collecting guardian questionnaires, saliva for genotyping and dental plaque, to study the genomics of early childhood caries."; 8059; "ZOE 2.0 cohort", "ZOE2.0"; ; rdfs:label "ZOE 2.0"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11341 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11341; "early childhood caries"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7663650/fullTextXML"; rdfs:comment "ZOE 2.0 is an observational, cross-sectional, community-based epidemiologic investigation of early childhood oral health with focus on ECC." . _:29282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7663650/fullTextXML"; rdfs:comment "Specifically, the ZOE 2.0 study population was children attending public preschools (Head Start) in North Carolina, United States, between August 2016 and February 2019." . _:29292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502757"; "Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects."; "PMID:39885687", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39885687+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genetic loci associated with early-childhood body mass index (BMI), we performed GWAS of BMI Z scores in eight ancestrally diverse cohorts: ZOE 2.0 cohort, the Santiago Longitudinal Study (SLS), the Vanderbilt University BioVU biobank, the Geisinger MyCode Health Initiative biobank, Study of Latino (SOL) Youth, Pelotas (Brazil) Birth Cohort, Cameron County Hispanic Cohort (CCHC), and Viva La Familia cohort." . _:292a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based, multi-ethnic, cross-sectional genetic epidemiologic study of early childhood oral health, run by the University of North Carolina at Chapel Hill, that enrolled children aged 3 to 5 attending public preschools (Head Start programmes) across North Carolina, United States, from August 2016 to February 2019, examining their teeth in the preschools and collecting guardian questionnaires, saliva for genotyping and dental plaque, to study the genomics of early childhood caries."; "PMID:33139633"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:292b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8059; "children aged 3-5 enrolled 2016-2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7663650/fullTextXML"; rdfs:comment "Between 2016 and 2019, the study enrolled 8059 3–5-year-old children attending public preschools in North Carolina, United States." . _:292c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ZOE2.0"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11348, _:genid-371333f489424440b12a13b9d98ced822608-genid11350, _:genid-371333f489424440b12a13b9d98ced822608-genid11352, _:genid-371333f489424440b12a13b9d98ced822608-genid11354; , , , , , ; "GCST90860918"; "A prospective birth cohort, begun in 2002 within an EU-funded project, of children from rural areas of Austria, Finland, France, Germany and Switzerland whose mothers were invited during the third trimester of pregnancy in 2002-2005, children of mothers living on family-run livestock farms forming the farm group and children of mothers from the same rural areas not living on a farm the reference group, followed from birth into school age with questionnaires, biological samples and clinical measurements to evaluate risk and protective factors, particularly farm exposures, for asthma and allergic diseases."; 1133; "PASTURE", "Protection Against Allergy Study in Rural Environments", "Protection against Allergy STUdy in Rural Environments", "Protection against Allergy-Study in Rural Environments"; ; rdfs:label "Protection Against Allergy: Study in Rural Environments"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11348 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11350 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11352 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11354 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:292d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11348; "farm milk consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9907754/fullTextXML"; rdfs:comment "Children of mothers living on family-run livestock farms at birth of the children were assigned to the farm group." . _:292e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11350; "exposure to animal sheds", "farm exposures", "living on family-run livestock farms"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9907754/fullTextXML"; rdfs:comment "Children of mothers living on family-run livestock farms at birth of the children were assigned to the farm group." . _:292f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11352; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9907754/fullTextXML"; rdfs:comment "The PASTURE study is a prospective birth cohort study started in 2002 and is conducted in children from rural areas of 5 European countries (Austria, Finland, France, Germany, and Switzerland).17 The study was designed to evaluate risk and preventive factors for atopic diseases." . _:29302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11354; "atopic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9907754/fullTextXML"; rdfs:comment "The PASTURE study is a prospective birth cohort study started in 2002 and is conducted in children from rural areas of 5 European countries (Austria, Finland, France, Germany, and Switzerland).17 The study was designed to evaluate risk and preventive factors for atopic diseases." . _:29312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S009167492600093X-mmc3.pdf"; rdfs:comment "The PASTURE study is a prospective birth cohort study started in 2002 and is conducted in children from rural areas of 5 European countries (Austria, Finland, France, Germany, and Switzerland) (58)." . _:29322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90860918"; "Meta-analysis of genome-wide association studies of food allergy and IgE sensitization."; "PMID:41724405", "https://ars.els-cdn.com/content/image/1-s2.0-S009167492600093X-mmc3.pdf"; rdfs:comment "The PASTURE study is a prospective birth cohort study started in 2002 and is conducted in children from rural areas of 5 European countries (Austria, Finland, France, Germany, and Switzerland) (58)." . _:29332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort, begun in 2002 within an EU-funded project, of children from rural areas of Austria, Finland, France, Germany and Switzerland whose mothers were invited during the third trimester of pregnancy in 2002-2005, children of mothers living on family-run livestock farms forming the farm group and children of mothers from the same rural areas not living on a farm the reference group, followed from birth into school age with questionnaires, biological samples and clinical measurements to evaluate risk and protective factors, particularly farm exposures, for asthma and allergic diseases."; "PMID:16512801", "PMID:33986744", "PMID:36356926", "https://ars.els-cdn.com/content/image/1-s2.0-S009167492600093X-mmc3.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1133; "children recruited at birth 2002-2005"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8111016/fullTextXML"; rdfs:comment "PASTURE recruited 1133 children in 2002-2005 from rural areas in 5 European countries: Austria, Finland, France, Germany, and Switzerland (6)." . _:29352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PASTURE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11361; , ; ; "GCST90841457"; "A prospective pre-birth cohort, run from Harvard Medical School and the Harvard Pilgrim Health Care Institute, of women recruited in early pregnancy at eight obstetric offices of Atrius Harvard Vanguard Medical Associates, a multi-specialty group practice in eastern Massachusetts, United States, from April 1999 to November 2002, and their children, followed with in-person visits during pregnancy, at delivery, in infancy, early and mid-childhood and early adolescence and with annual mailed questionnaires, to examine prenatal diet and other early-life factors in relation to maternal and child health."; "The acronym VIVA also denotes Viborg Vascular (COHO:0001129); this term is Project Viva."@en; 2341; "VIVA", "Viva"; ; rdfs:label "Project Viva"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11361 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11361; "prenatal diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24639442+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established Project Viva to examine prenatal diet and other factors in relation to maternal and child health." . _:29372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40192100+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed mother-child pairs in Project Viva, a prospective prebirth cohort in eastern Massachusetts, USA." . _:29382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90841457"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-026-73509-y/MediaObjects/41467_2026_73509_MOESM3_ESM.xlsx"; rdfs:comment "Project Viva 1999-2002 USA" . _:29392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective pre-birth cohort, run from Harvard Medical School and the Harvard Pilgrim Health Care Institute, of women recruited in early pregnancy at eight obstetric offices of Atrius Harvard Vanguard Medical Associates, a multi-specialty group practice in eastern Massachusetts, United States, from April 1999 to November 2002, and their children, followed with in-person visits during pregnancy, at delivery, in infancy, early and mid-childhood and early adolescence and with annual mailed questionnaires, to examine prenatal diet and other early-life factors in relation to maternal and child health."; "PMID:24639442", "PMID:37012456"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:293a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2341; "eligible pregnant women enrolled 1999-2002"; "https://europepmc.org/api/getPdf?pmcid=PMC4339753"; rdfs:comment "After recruitment we found 329 of them to be ineligible (Figure 1), leaving a total of 2341 eligible enrollees, of whom 2128 were still enrolled at the time of delivery and had live births." . _:293b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIVA"; . _:293c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Viva"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11369; , ; "GCST90399478"; "A population-based cohort of community-dwelling adults aged 70 or over without dementia but with a subjective cognitive complaint. They were recruited door to door from 2017 in three districts of Santiago, Chile (Macul, Peñalolén and La Reina), by the Geroscience Center for Brain Health and Metabolism (GERO), and are followed at 18 and 36 months with clinical, neuropsychological, neuroimaging, blood and stool assessments to study the rate of functional decline and progression to dementia and their risk factors."; "GERO", "GERO cohort study", "Gero cohort"; ; rdfs:label "GERO cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11369 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:293d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11369; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7690082/fullTextXML"; rdfs:comment "The objective of the GERO cohort is to analyze the rate of functional decline and progression to clinical dementia and their associated risk factors in a community-dwelling elderly with subjective cognitive complaint, through a population-based study." . _:293e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7690082/fullTextXML"; rdfs:comment "The sample framework corresponds to the territories assigned to three primary healthcare centers selected by convenience according to their socioeconomic heterogeneity, which belong to three different districts in Santiago (Chile): Macul, Peñalolen and La Reina." . _:293f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399478"; "The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease."; "PMID:37985413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10917041/fullTextXML"; rdfs:comment "Additional AD cases and control individuals (32 AD and 20 controls) from Santiago were recruited from the GERO 17 (Geroscience Center for Brain Health and Metabolism) study at the Memory and Neuropsychiatric Center of the Hospital del Salvador and Faculty of Medicine of the University of Chile." . _:29402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of community-dwelling adults aged 70 or over without dementia but with a subjective cognitive complaint. They were recruited door to door from 2017 in three districts of Santiago, Chile (Macul, Peñalolén and La Reina), by the Geroscience Center for Brain Health and Metabolism (GERO), and are followed at 18 and 36 months with clinical, neuropsychological, neuroimaging, blood and stool assessments to study the rate of functional decline and progression to dementia and their risk factors."; "PMID:33238908"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GERO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11375; , ; "GCST90399478"; "A multisite case-control study of sporadic Alzheimer's disease in Argentina, recruiting since 2013. Older people with Alzheimer's disease and cognitively unimpaired controls are enrolled at outpatient neurology departments of hospitals in the city and province of Buenos Aires and at centres in Jujuy, Córdoba and Mendoza provinces, to identify genes for susceptibility to sporadic Alzheimer's disease and genes that modify its phenotypes."; 1018; "AGA", "AGA-ALZAR", "AGA-ALZAR study", "AGA-ALZAR-PRONADIAL"; ; rdfs:label "Alzheimer's Genetics in Argentina–Alzheimer Argentina consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11375 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11375; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37985413+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile." . _:29432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10917041/fullTextXML"; rdfs:comment "The Argentinian samples were recruited in the context of the Alzheimer's Genetics in Argentina–Alzheimer Argentina consortium (AGA‐ALZAR, https://www.gaaindata.org/partner/AGA)" . _:29442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399478"; "The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease."; "PMID:37985413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10917041/fullTextXML"; rdfs:comment "The Argentinian samples were recruited in the context of the Alzheimer's Genetics in Argentina–Alzheimer Argentina consortium (AGA‐ALZAR, https://www.gaaindata.org/partner/AGA)" . _:29452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multisite case-control study of sporadic Alzheimer's disease in Argentina, recruiting since 2013. Older people with Alzheimer's disease and cognitively unimpaired controls are enrolled at outpatient neurology departments of hospitals in the city and province of Buenos Aires and at centres in Jujuy, Córdoba and Mendoza provinces, to identify genes for susceptibility to sporadic Alzheimer's disease and genes that modify its phenotypes."; "PMID:30705288", "PMID:37333771", "PMID:37985413", "https://www.gaaindata.org/getPartner?project=AGA"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1018; "analysed subset: Argentinian samples in the 2023 GWAS after QC"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10917041/fullTextXML"; rdfs:comment "A total number of 1018 samples from Argentina and 375 samples from Chile remained after QC." . _:29472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGA"; . _:29482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGA-ALZAR"; . _:29492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGA-ALZAR-PRONADIAL"; . a owl:NamedIndividual, ; , ; "GCST90861010"; "A prospective cohort of healthy pregnant women of Scandinavian heritage with singleton pregnancies who registered for obstetric care and gave birth at Oslo University Hospital, Rikshospitalet, Norway, in 2001–2008. The women had four antenatal visits (weeks 14–16, 22–24, 30–32 and 36–38) with fasting blood samples and ultrasound, and oral glucose tolerance tests at weeks 14–16 and 30–32, to study the determinants of fetal growth and birthweight in healthy pregnancies."; 1031; "Project STORK", "STORK", "STORK Rikshospitalet", "STORK Rikshospitalet study", "Stork Rikshospitalet"; ; rdfs:label "STORK study"@en . _:294a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3583865/fullTextXML"; rdfs:comment "The present work was performed in a subcohort (n = 207) of the STORK study, an observational, prospective study on the determinants of fetal growth and birthweight in healthy pregnancies at Oslo University Hospital, Norway." . _:294b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90861010"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "The STORK study received additional funding from the Norwegian Diabetes Association, Oslo Diabetes Research Centre, the Norwegian Odd Fellow Research Fund, Johan Selmer Kvanes’ Endowment for Research in Diabetes, University of Oslo, Thematic research: Perinatal nutrition, Oslo University Hospital, Department of Obstetrics, the Norwegian Health Association and the Norwegian Extra Foundation for Health and Rehabilitation." . _:294c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of healthy pregnant women of Scandinavian heritage with singleton pregnancies who registered for obstetric care and gave birth at Oslo University Hospital, Rikshospitalet, Norway, in 2001–2008. The women had four antenatal visits (weeks 14–16, 22–24, 30–32 and 36–38) with fasting blood samples and ultrasound, and oral glucose tolerance tests at weeks 14–16 and 30–32, to study the determinants of fetal growth and birthweight in healthy pregnancies."; "PMID:22723995", "PMID:23460863"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:294d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1031; "healthy pregnant women included 2001-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3377679/fullTextXML"; rdfs:comment "A total of 1031 healthy pregnant women who gave birth at Oslo University Hospital, Rikshospitalet, Norway were included in the study (Figure 1)." . _:294e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STORK"; . a owl:NamedIndividual, ; , ; "GCST90449022"; "A community-based longitudinal study of the disablement process in older Mexican Americans and European Americans in San Antonio, Texas. Its participants, the oldest members (aged 65 and over) of the San Antonio Heart Study cohort, had been randomly sampled from low-, middle- and high-income (barrio, transitional and suburban) neighbourhoods. They had a baseline examination in 1992–1996, combining a home-based assessment with a performance-based assessment at a clinical research center, and three follow-up examinations 18 months apart in 2000–2005."; 749; "SALSA", "The San Antonio Longitudinal Study of Aging"; ; rdfs:label "San Antonio Longitudinal Study of Aging"@en . _:294f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25597562+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Socioeconomically and ethnically diverse neighborhoods in San Antonio, Texas." . _:29502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90449022"; "A genome-wide association meta-analysis of all-cause and vascular dementia."; "PMID:39046104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11497727/supplementaryFiles"; rdfs:comment "The San Antonio Longitudinal Study of Aging (SALSA) is a community-based study of the disablement process in older Mexican Americans (MAs) and European Americans (EAs)." . _:29512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based longitudinal study of the disablement process in older Mexican Americans and European Americans in San Antonio, Texas. Its participants, the oldest members (aged 65 and over) of the San Antonio Heart Study cohort, had been randomly sampled from low-, middle- and high-income (barrio, transitional and suburban) neighbourhoods. They had a baseline examination in 1992–1996, combining a home-based assessment with a performance-based assessment at a clinical research center, and three follow-up examinations 18 months apart in 2000–2005."; "PMID:21054295", "PMID:21216857", "PMID:25597562"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 749; "people who completed the 1992-1996 baseline examination"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3058917/unicode"; rdfs:comment "Of the remaining 1,062 individuals, 749 completed the baseline examination for a response rate of 70.5%." . _:29532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SALSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11394; , ; "GCST90013445"; "A collection of people with type 1 diabetes from Northern Ireland, most of them diagnosed in childhood. It is analysed separately from the Genetic Resource Investigating Diabetes (GRID) cases of Great Britain, and its DNA was genotyped on the ImmunoChip at the University of Virginia under the Type 1 Diabetes Genetics Consortium grant for genetic studies of type 1 diabetes."; "GRID-NI", "NI GRID", "Northern Irish GRID"; ; rdfs:label "Northern Ireland GRID Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11394 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11394; "type 1 diabetes"; "https://europepmc.org/api/getPdf?pmcid=PMC5719131"; rdfs:comment "We analysed data from six cohorts, independent cases from the UK Genetic Resource Investigating Diabetes (GRID) cohort [2], the Northern Irish GRID (NI) cohort (used here for the first time)" . _:29552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "These studies include the Type 1 Diabetes Genetics Consortium (T1DGC), British 1958 Birth Cohort, Genetic Resource Investigating Diabetes (GRID), Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis (CLEAR), Epidemiology of Diabetes Interventions and Complications (EDIC), Genetics of Kidneys and Diabetes Study (GoKinD), New York Cancer Project (NYCP), SEARCH for Diabetes in Youth study (SEARCH), Type 1 Diabetes TrialNet study (TrialNet), Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen (IDDMGEN), Tyypin 1 Diabeteksen Genetiikka (T1DGEN), Northern Ireland GRID Collection, Northern Ireland Young Hearts Project, Hvidoere Study Group on Childhood Diabetes (HSG), and International HapMap Project." . _:29562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of people with type 1 diabetes from Northern Ireland, most of them diagnosed in childhood. It is analysed separately from the Genetic Resource Investigating Diabetes (GRID) cases of Great Britain, and its DNA was genotyped on the ImmunoChip at the University of Virginia under the Type 1 Diabetes Genetics Consortium grant for genetic studies of type 1 diabetes."; "PMID:28983737", "PMID:34127860"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRID-NI"; . _:29582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NI GRID"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11400; , ; ; "GCST90454541"; "A case-control genetic association study of COVID-19 severity in Iran, based at Shariati Hospital, Tehran University of Medical Sciences. It genotyped people of Middle Eastern ancestry hospitalised with COVID-19, and controls, on the Illumina Global Screening Array, and contributed them to the COVID-19 Host Genetics Initiative's meta-analyses of COVID-19 severity and of long COVID."; "IrCovid", "IranCovid"; ; rdfs:label "Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11400 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11400; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "IrCovid - Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran" . _:295a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454541"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/supplementaryFiles"; rdfs:comment "IrCovid - Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran" . _:295b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genetic association study of COVID-19 severity in Iran, based at Shariati Hospital, Tehran University of Medical Sciences. It genotyped people of Middle Eastern ancestry hospitalised with COVID-19, and controls, on the Illumina Global Screening Array, and contributed them to the COVID-19 Host Genetics Initiative's meta-analyses of COVID-19 severity and of long COVID."; "PMID:35922517", "PMID:40399555"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:295c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IrCovid"; . _:295d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IranCovid"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11406; , ; "GCST90013445"; "A longitudinal study of cardiovascular disease risk factors in young people in Northern Ireland, which screened a random sample of 12- and 15-year-olds from post-primary schools in 1989–1990, re-examined the younger group at age 15 in 1992–1993, and invited the whole sample back for examination as young adults in 1997–1999. A second school sample of 12- and 15-year-olds was surveyed in 1999–2001 as Young Hearts 2000."; 1015; "Northern Ireland Young Hearts Study", "YH", "Young Hearts Project", "Young Hearts Study", "Young Hearts-NI", "yh3, yh2000"; ; rdfs:label "Northern Ireland Young Hearts Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11406 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:295e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11406; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC524366/fullTextXML"; rdfs:comment "The Young Hearts Project (YH) is an ongoing longitudinal study evaluating the prevalence of CVD risk factors in young people living in Northern Ireland." . _:295f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC524366/fullTextXML"; rdfs:comment "The Young Hearts Project (YH) is an ongoing longitudinal study evaluating the prevalence of CVD risk factors in young people living in Northern Ireland." . _:29602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90013445"; "Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes."; "PMID:34127860", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8273124/fullTextXML"; rdfs:comment "These studies include the Type 1 Diabetes Genetics Consortium (T1DGC), British 1958 Birth Cohort, Genetic Resource Investigating Diabetes (GRID), Consortium for the Longitudinal Evaluation of African-Americans with Early Rheumatoid Arthritis (CLEAR), Epidemiology of Diabetes Interventions and Complications (EDIC), Genetics of Kidneys and Diabetes Study (GoKinD), New York Cancer Project (NYCP), SEARCH for Diabetes in Youth study (SEARCH), Type 1 Diabetes TrialNet study (TrialNet), Tyypin 1 Diabetekseen Sairastuneita Perheenjäsenineen (IDDMGEN), Tyypin 1 Diabeteksen Genetiikka (T1DGEN), Northern Ireland GRID Collection, Northern Ireland Young Hearts Project, Hvidoere Study Group on Childhood Diabetes (HSG), and International HapMap Project." . _:29612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of cardiovascular disease risk factors in young people in Northern Ireland, which screened a random sample of 12- and 15-year-olds from post-primary schools in 1989–1990, re-examined the younger group at age 15 in 1992–1993, and invited the whole sample back for examination as young adults in 1997–1999. A second school sample of 12- and 15-year-olds was surveyed in 1999–2001 as Young Hearts 2000."; "PMID:15462676", "PMID:20864003"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1015; "adolescents surveyed at the initial 1989/1990 screening (YH1)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC524366/fullTextXML"; rdfs:comment "Briefly, the initial screening (YH1), conducted in 1989/1990, surveyed 1015 adolescents (12-year old boys, n 251;12-year old girls, n 258; 15-year old boys, n 252; and 15-year old girls, n 254) randomly selected from post-primary schools." . _:29632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YH"; . _:29642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Young Hearts-NI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11414, _:genid-371333f489424440b12a13b9d98ced822608-genid11416; , ; "GCST90399478"; "A longitudinal study of community-dwelling people aged 60 years and older in Santiago, Chile, designed to study disability and dementia associated with obesity. It follows three cohorts: Santiago participants of the SABE survey, born before 1940 and first recruited in 1999–2000; people born in 1940–1948, recruited from public primary health care centre registries in 2005–2008; and people of high socioeconomic status selected from private health insurance registries."; 3086; "ALEXANDROS", "ALEXANDROS study", "Active Life Expectancy, Aging and Disability Related to Obesity Study", "Active Life Expectancy, Aging and Disorders Related to Obesity Study", "Alexandros", "Alexandros longitudinal study"; ; rdfs:label "Active Life Expectancy, Ageing, and Disability Related to Obesity Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11414 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11416 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11414; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9410389/fullTextXML"; rdfs:comment "The ALEXANDROS cohort, designed to study disability and dementia associated with obesity in community dwelling people 60y and older, has already been described [66]." . _:29662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11416; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9410389/fullTextXML"; rdfs:comment "The ALEXANDROS cohort, designed to study disability and dementia associated with obesity in community dwelling people 60y and older, has already been described [66]." . _:29672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8055355/fullTextXML"; rdfs:comment "In brief, ALEXANDROS is a longitudinal study conducted in Santiago, Chile, which includes the follow-up of three cohorts:" . _:29682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399478"; "The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease."; "PMID:37985413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10917041/fullTextXML"; rdfs:comment "Control individuals (n = 791) were recruited from the Alexandros longitudinal study, 14 of community‐dwelling older adults (≥60 years old) of different demographic origins and socioeconomic levels, mainly in the study of healthy life expectancy, free of disability and dementia." . _:29692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of community-dwelling people aged 60 years and older in Santiago, Chile, designed to study disability and dementia associated with obesity. It follows three cohorts: Santiago participants of the SABE survey, born before 1940 and first recruited in 1999–2000; people born in 1940–1948, recruited from public primary health care centre registries in 2005–2008; and people of high socioeconomic status selected from private health insurance registries."; "PMID:22286726", "PMID:33883888", "PMID:35887574", "PMID:36013179"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:296a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3086; "individuals in the ALEXANDROS cohorts (as stated in 2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9410389/fullTextXML"; rdfs:comment "The cohort consists of 3086 individuals (2880 of which were randomly recruited from the registers of health centers)." . _:296b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALEXANDROS"; . _:296c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Alexandros"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11424; , , , , , , , , , , , , , , , , , , , ; "GCST90455614"; "A multicentre research consortium formed to carry out genome-wide association studies of primary open-angle glaucoma in people of African ancestry, which brought together case-control collections recruited in 2003–2018 through clinics and population-based studies in Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru and Mali. Besides its own site collections, it included participants of African ancestry from existing studies such as the Women's Health Initiative, the Genetic Epidemiology Research on Adult Health and Aging cohort and the African Descent and Glaucoma Evaluation Study."; 9257; 17038; 26295; "GGLAD", "GGLAD consortium", "Genetics of Glaucoma in People of African Descent"; ; rdfs:label "Genetics of Glaucoma in People of African Descent Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11424 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:296d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11424; "primary open-angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31688885+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma." . _:296e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31688885+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018." . _:296f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90455614"; "A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma."; "PMID:38242088", "https://europepmc.org/api/getPdf?pmcid=PMC11844349"; rdfs:comment "We performed a mega-analysis in a discovery cohort that combined three African ancestry datasets: the ADAGES study (n = 1,999),36 the GGLAD consortium (n = 2,952),37 and the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study (n = 6,324)38 (Figure 1)." . _:29702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre research consortium formed to carry out genome-wide association studies of primary open-angle glaucoma in people of African ancestry, which brought together case-control collections recruited in 2003–2018 through clinics and population-based studies in Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru and Mali. Besides its own site collections, it included participants of African ancestry from existing studies such as the Women's Health Initiative, the Genetic Epidemiology Research on Adult Health and Aging cohort and the African Descent and Glaucoma Evaluation Study."; "PMID:31688885"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9257; "cases and controls in the consortium's 2019 two-stage GWAS (discovery and validation)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6865235/"; rdfs:comment "A total of 26 295 individuals were included in the study." . _:29722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17038; "cases and controls in the consortium's 2019 two-stage GWAS (discovery and validation)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6865235/"; rdfs:comment "A total of 26 295 individuals were included in the study." . _:29732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26295; "cases and controls in the consortium's 2019 two-stage GWAS (discovery and validation)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6865235/"; rdfs:comment "A total of 26 295 individuals were included in the study." . _:29742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GGLAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11433; , , , , , , , , , , , , , ; "GCST90020034"; "An international, open-label, randomised phase 3 trial of the Gynecologic Cancer InterGroup, led by the UK Medical Research Council, in which women with newly diagnosed high-risk early-stage or advanced epithelial ovarian, fallopian tube or primary peritoneal cancer were recruited in 2006–2009 at centres in Europe, Canada, Australia and New Zealand and randomised to carboplatin and paclitaxel chemotherapy with or without concurrent and maintenance bevacizumab."; 1528; "Gynecologic Cancer Intergroup International Collaboration on Ovarian Neoplasms 7", "ICON7", "ICON7 trial", "International Collaboration on Ovarian Neoplasms 7"; ; rdfs:label "International Collaboration on Ovarian Neoplasms 7 trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11433 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11433; "ovarian cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8627468/unicode"; rdfs:comment "ICON7 was conducted in advanced or high-risk early-stage ovarian cancer patients treated with carboplatin and paclitaxel with or without bevacizumab." . _:29762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3596061/fullTextXML"; rdfs:comment "1528 women were recruited at 263 centres in 11 countries (Australia, Canada, Denmark, Germany, Spain, Finland, France, UK, Norway, New Zealand, and Sweden)" . _:29772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90020034"; "Genome-wide association studies of survival in 1520 cancer patients treated with bevacizumab-containing regimens."; "PMID:34528705", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8627468/unicode"; rdfs:comment "ICON7 was conducted in advanced or high-risk early-stage ovarian cancer patients treated with carboplatin and paclitaxel with or without bevacizumab." . _:29782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international, open-label, randomised phase 3 trial of the Gynecologic Cancer InterGroup, led by the UK Medical Research Council, in which women with newly diagnosed high-risk early-stage or advanced epithelial ovarian, fallopian tube or primary peritoneal cancer were recruited in 2006–2009 at centres in Europe, Canada, Australia and New Zealand and randomised to carboplatin and paclitaxel chemotherapy with or without concurrent and maintenance bevacizumab."; "PMID:23333117", "PMID:26115797"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1528; "women randomised 2006-2009"; "PMID:26115797"; rdfs:comment "Between Dec 18, 2006, and Feb 16, 2009, 1528 women were enrolled and randomly assigned to receive chemotherapy (n=764) or chemotherapy plus bevacizumab (n=764)." . _:297a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICON7"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11440; , , ; "GCST90320240"; "A prospective, pan-India, multicentre study of people with juvenile-, young- and early-onset Parkinson's disease (onset by about 50 years of age), started by the Parkinson Research Alliance of India, which over two years recruited patients under the care of movement disorder specialists at ten specialty movement disorder centres and neurology clinics across India, to study the clinical and genetic patterns of early-onset Parkinson's disease in India."; 674; "GOPI-YOPD", "Genetics Of Parkinson's in India - Young Onset Parkinson's Disease", "Genetics of PAN-India Young Onset Parkinson Disease", "PRAI", "PRAI cohort", "Parkinson's Research Alliance of India cohort"; ; rdfs:label "Genetics of Parkinson's in India – Young Onset Parkinson's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11440 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:297b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11440; "Parkinson's disease"; "https://www.medrxiv.org/content/medrxiv/early/2023/06/22/2023.06.18.23291407.full.pdf"; rdfs:comment "Specifically, we jointly profiled 674 PD subjects predominantly with earlier onset PD from the Parkinson’s Research Alliance of India (PRAI) cohort via genotype array and whole exome sequencing (WES)" . _:297c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38014556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 674 PD subjects predominantly with age of onset (AoO) ≤50 years (encompassing juvenile, young, or early-onset PD) were recruited from 10 specialty movement disorder centers across India over a 2-year period" . _:297d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90320240"; "The Genetic Drivers of Juvenile, Young, and Early-Onset Parkinson's Disease in India."; "PMID:38014556", "https://www.medrxiv.org/content/medrxiv/early/2023/06/22/2023.06.18.23291407.full.pdf"; rdfs:comment "Specifically, we jointly profiled 674 PD subjects predominantly with earlier onset PD from the Parkinson’s Research Alliance of India (PRAI) cohort via genotype array and whole exome sequencing (WES)" . _:297e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, pan-India, multicentre study of people with juvenile-, young- and early-onset Parkinson's disease (onset by about 50 years of age), started by the Parkinson Research Alliance of India, which over two years recruited patients under the care of movement disorder specialists at ten specialty movement disorder centres and neurology clinics across India, to study the clinical and genetic patterns of early-onset Parkinson's disease in India."; "PMID:33685545", "https://www.mdsabstracts.org/abstract/genetics-of-parkinsons-in-india-young-onset-parkinsons-disease-gopi-yopd-genetics-of-juvenile-young-and-early-onset-parkinsons-disease/", "https://www.medrxiv.org/content/medrxiv/early/2023/06/22/2023.06.18.23291407.full.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:297f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 674; "people with Parkinson's disease recruited over two years"; "https://www.medrxiv.org/content/medrxiv/early/2023/06/22/2023.06.18.23291407.full.pdf"; rdfs:comment "674 subjects with PD were recruited through a network of 10 specialty movement disorder centers and/or neurology clinics located across India." . _:29802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOPI-YOPD"; . _:29812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRAI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11448; , ; ; "GCST90454541"; "A study of patients with critical COVID-19 admitted from March 2020 to the intensive care unit of Uppsala University Hospital, Sweden, who were enrolled in the prospective observational PronMed cohort and invited to follow-up three to six months after discharge, in which researchers at Uppsala University and Karolinska Institutet investigate the mechanisms of acute and long-term organ dysfunction in critical COVID-19, including its host genetics."; "The acronym SweCovid-COMRI also denotes COVID-19 Kohortenstudie am Klinikum München Rechts der Isar (COHO:0001267); this term is SweCovid study."@en; 374; "FUP-COVID", "Follow-UP study of patients with critical COVID-19", "PronMed-Cohort", "Pronmed cohort", "SweCOVID", "SweCOVID study", "SweCovid", "SweCovid-COMRI", "The genetic predisposition to severe COVID-19"; ; rdfs:label "SweCovid study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11448 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11448; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9585783/fullTextXML"; rdfs:comment "The discovery set was taken from the Pronmed cohort that consists of 374 critically ill COVID-19 patients admitted to the intensive care unit (ICU) at Uppsala University Hospital, in Uppsala, Sweden between March 13, 2020 and June 30, 2021 (Fig. 2A)." . _:29832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9585783/fullTextXML"; rdfs:comment "The discovery set was taken from the Pronmed cohort that consists of 374 critically ill COVID-19 patients admitted to the intensive care unit (ICU) at Uppsala University Hospital, in Uppsala, Sweden between March 13, 2020 and June 30, 2021 (Fig. 2A)." . _:29842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454541"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI)" . _:29852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of patients with critical COVID-19 admitted from March 2020 to the intensive care unit of Uppsala University Hospital, Sweden, who were enrolled in the prospective observational PronMed cohort and invited to follow-up three to six months after discharge, in which researchers at Uppsala University and Karolinska Institutet investigate the mechanisms of acute and long-term organ dysfunction in critical COVID-19, including its host genetics."; "PMID:34597274", "PMID:35052684", "PMID:36271419", "https://www.scilifelab.se/news/uppsala-researchers-contributes-to-the-global-covid-19-host-genetics-initiative/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 374; "critical COVID-19 ICU patients in the PronMed cohort from which SweCovid is drawn"; "PMID:36271419"; rdfs:comment "The study includes 374 COVID-19 patients from the Pronmed cohort admitted to the ICU at Uppsala University Hospital." . _:29872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FUP-COVID"; . _:29882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SweCOVID"; . _:29892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SweCovid"; . _:298a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SweCovid-COMRI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11458; , ; ; "GCST90454541"; "A prospective cohort study and registry of patients who tested positive for SARS-CoV-2 at the Klinikum rechts der Isar, the university hospital of the Technical University of Munich, Germany, from 2020, in which hospitalised patients' clinical and laboratory data were collected prospectively for research on COVID-19."; "The acronym SweCovid-COMRI also denotes SweCovid study (COHO:0001266); this term is COVID-19 Kohortenstudie am Klinikum München Rechts der Isar."@en; "COMRI", "COMRI cohort", "COVID-19 Cohort Study of the University Hospital of the Technical University Munich", "CoMRI", "SweCovid-COMRI"; ; rdfs:label "COVID-19 Kohortenstudie am Klinikum München Rechts der Isar"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11458 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:298b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11458; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9132318/fullTextXML"; rdfs:comment "Hospitalized patients (ICU, n = 80 and non-ICU, n = 130) were prospectively included in the COVID-19 registry COMRI at the University Hospital rechts der Isar." . _:298c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8855857/fullTextXML"; rdfs:comment "Acquisition of patients was conducted at the university hospital Klinikum rechts der Isar, Technical University Munich, Germany." . _:298d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454541"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI)" . _:298e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study and registry of patients who tested positive for SARS-CoV-2 at the Klinikum rechts der Isar, the university hospital of the Technical University of Munich, Germany, from 2020, in which hospitalised patients' clinical and laboratory data were collected prospectively for research on COVID-19."; "PMID:34235400", "PMID:34597274", "PMID:35174781", "PMID:35613127"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:298f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COMRI"; . _:29902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoMRI"; . _:29912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SweCovid-COMRI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11466, _:genid-371333f489424440b12a13b9d98ced822608-genid11468; , ; "GCST90271572"; "A population-based case-control study of women admitted for obstetric care at seven hospitals in Lima, Peru, between March 2013 and December 2015, with cases of placental abruption and of preterm birth and controls selected at random from women delivering at the same hospitals, designed to investigate the genetic and environmental determinants of placental abruption and other adverse pregnancy outcomes."; "The acronym PAGE also denotes Psoriasis Association Genetics Extension (COHO:0000145), Parkinson's, Genes, and Environment Study (COHO:0002232) and Population Architecture using Genomics and Epidemiology Study (COHO:0002752); this term is Placental Abruption Genetic Epidemiology study."@en; 933; 1279; 2212; "PAGE", "PAGEPI", "Placental Abruption Genetic Epidemiology"; ; rdfs:label "Placental Abruption Genetic Epidemiology study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11466 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11468 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11466; "preterm birth"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29884306+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants of the Placental Abruption Genetic Epidemiology (PAGE) study, a population based case-control study of PA conducted in Lima, Peru, were genotyped using the Illumina HumanCore-24 BeadChip platform." . _:29932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11468; "placental abruption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29884306+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants of the Placental Abruption Genetic Epidemiology (PAGE) study, a population based case-control study of PA conducted in Lima, Peru, were genotyped using the Illumina HumanCore-24 BeadChip platform." . _:29942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5995331/"; rdfs:comment "Participants of the Placental Abruption Genetic Epidemiology (PAGE) study, a population based case-control study of PA conducted in Lima, Peru, were genotyped using the Illumina HumanCore-24 BeadChip platform." . _:29952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271572"; "Genetic association study of preterm birth and gestational age in a population-based case-control study in Peru."; "PMID:39302385", "https://www.medrxiv.org/content/medrxiv/early/2023/11/22/2023.11.22.23298891.full.pdf"; rdfs:comment "This study was conducted among participants of the Placental Abruption Genetic Epidemiology" . _:29962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of women admitted for obstetric care at seven hospitals in Lima, Peru, between March 2013 and December 2015, with cases of placental abruption and of preterm birth and controls selected at random from women delivering at the same hospitals, designed to investigate the genetic and environmental determinants of placental abruption and other adverse pregnancy outcomes."; "PMID:29884306", "https://www.medrxiv.org/content/medrxiv/early/2023/11/22/2023.11.22.23298891.full.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 933; "analysed subset: women in the preterm-birth GWAS (PTB cases and controls)"; "https://www.medrxiv.org/content/medrxiv/early/2023/11/22/2023.11.22.23298891.full.pdf" . _:29982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1279; "analysed subset: women in the preterm-birth GWAS (PTB cases and controls)"; "https://www.medrxiv.org/content/medrxiv/early/2023/11/22/2023.11.22.23298891.full.pdf" . _:29992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2212; "analysed subset: women in the preterm-birth GWAS (PTB cases and controls)"; "https://www.medrxiv.org/content/medrxiv/early/2023/11/22/2023.11.22.23298891.full.pdf" . _:299a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGE"; . _:299b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGEPI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11478, _:genid-371333f489424440b12a13b9d98ced822608-genid11480, _:genid-371333f489424440b12a13b9d98ced822608-genid11482; , ; "GCST90861010"; "A population-based cohort of pregnant women of diverse ethnic origin attending three public Child Health Clinics for antenatal care in Groruddalen, a multi-ethnic area of Oslo, Norway, recruited in 2008–2010 and followed with their offspring through pregnancy and after birth, to study gestational diabetes, physical activity and obesity in pregnancy and to identify predictors of gestational diabetes and fetal growth."; 823; "STORK G", "STORK Groruddalen research programme", "STORK Groruddalen study", "STORK-G"; ; rdfs:label "STORK Groruddalen"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11478 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11480 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:299c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11478; "physical activity in pregnancy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21062840+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The STORK Groruddalen research programme: A population-based cohort study of gestational diabetes, physical activity, and obesity in pregnancy in a multiethnic population." . _:299d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11480; "gestational diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21062840+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The STORK Groruddalen research programme: A population-based cohort study of gestational diabetes, physical activity, and obesity in pregnancy in a multiethnic population." . _:299e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11482; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21062840+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The STORK Groruddalen research programme: A population-based cohort study of gestational diabetes, physical activity, and obesity in pregnancy in a multiethnic population." . _:299f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3260695/fullTextXML"; rdfs:comment "This population-based cohort study was conducted at three public Child Health Clinics in Groruddalen, Oslo, Norway (12)." . _:29a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90861010"; "Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects."; "PMID:42225636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13226718/supplementaryFiles"; rdfs:comment "Data collection for the Stork Groruddalen study was funded by The Research Council of Norway, The South-Eastern Norway Regional Health Authority and the public Child Health Clinics in Stovner, Grorud and Bjerke districts in Oslo." . _:29a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of pregnant women of diverse ethnic origin attending three public Child Health Clinics for antenatal care in Groruddalen, a multi-ethnic area of Oslo, Norway, recruited in 2008–2010 and followed with their offspring through pregnancy and after birth, to study gestational diabetes, physical activity and obesity in pregnancy and to identify predictors of gestational diabetes and fetal growth."; "PMID:21062840", "PMID:22108914", "PMID:34388220"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 823; "pregnant women included 2008-2010"; "PMID:21062840"; rdfs:comment "823 women were included, 59% of non-Western origin." . _:29a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STORK G"; . _:29a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STORK-G"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11490; , ; ; "GCST90454540"; "A research biobank of patients hospitalised with COVID-19 in the Mount Sinai Health System in New York City, enrolled from April to June 2020 through daily review of new admissions together with a smaller group of healthy and hospitalised controls, whose blood was sampled repeatedly alongside routine clinical draws during their hospital stay for multi-omic study of the host response to SARS-CoV-2, and whose survivors were later surveyed for post-acute sequelae of COVID-19."; 567; "MSCIC", "Mount Sinai COVID Biobank", "Mount Sinai COVID-19 Biobank Study"; ; rdfs:label "Mount Sinai COVID-19 Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11490 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11490; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9873574/fullTextXML"; rdfs:comment "In this study, 567 individuals (495 hospitalized with COVID-19 and 72 healthy and hospitalized controls) were enrolled in the Mount Sinai COVID-19 Biobank Study between April and June 2020 (Fig. 1)." . _:29a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41591-020-1004-3"; rdfs:comment "In this Correspondence, we provide an account of a 49-day period during which we built a COVID-19 research biobank with samples from patients hospitalized in a large New York City health system." . _:29a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454540"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "of Long COVID (GOLD), Helix Exome+ and Healthy Nevada Project COVID-19 Phenotypes (Helix), MexGen-COVID Initiative, COVID-19 Ioannina Biobank (Ioannina), Genome-wide assessment of the gene variants associated with severe COVID-19 phenotype in Iran (IrCovid), Japan COVID-19 Task Force (JapanTaskForce), Lifelines, Norwegian Mother, Father and Child Cohort Study (MoBa), Mount Sinai COVID Biobank (MSCIC), Penn Medicine BioBank (PMBB), Follow-UP study of patients with critical COVID-19/COVID-19 Cohort Study of the University Hospital of the Technical University Munich (SweCovid/COMRI), Tirschenreuth Study (TiKoCo), TwinsUK, UK Biobank and Understanding Society—UK Household Longitudinal Study." . _:29a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research biobank of patients hospitalised with COVID-19 in the Mount Sinai Health System in New York City, enrolled from April to June 2020 through daily review of new admissions together with a smaller group of healthy and hospitalised controls, whose blood was sampled repeatedly alongside routine clinical draws during their hospital stay for multi-omic study of the host response to SARS-CoV-2, and whose survivors were later surveyed for post-acute sequelae of COVID-19."; "PMID:32719485", "PMID:36482101"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 567; "individuals enrolled April-June 2020 (495 COVID-19 inpatients, 72 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9873574/fullTextXML"; rdfs:comment "In this study, 567 individuals (495 hospitalized with COVID-19 and 72 healthy and hospitalized controls) were enrolled in the Mount Sinai COVID-19 Biobank Study between April and June 2020 (Fig. 1)." . _:29aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSCIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11497, _:genid-371333f489424440b12a13b9d98ced822608-genid11499; , ; "GCST90320249"; "A multicentre, randomised, double-blind, placebo-controlled trial, begun in 1998 at dialysis centres throughout Germany, of adults aged 18–80 with type 2 diabetes who had been on maintenance haemodialysis for less than two years, which tested whether atorvastatin lowers the risk of cardiovascular death, non-fatal myocardial infarction and stroke, and followed its participants for a median of four years."; 1255; "4D", "4D Study", "DDDD", "German Diabetes and Dialysis Study"; ; rdfs:label "Die Deutsche Diabetes Dialyse Studie"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11497 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11499 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11497; "end-stage renal disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10627490/fullTextXML"; rdfs:comment "Patients with type 2 diabetes mellitus, aged 18–80 years, who had received maintenance hemodialysis for less than 2 years were included by 178 dialysis centers in Germany into the 4 D study (Die Deutsche Diabetes Dialyse Studie/German Diabetes and Dialysis Study)." . _:29ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11499; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10627490/fullTextXML"; rdfs:comment "Patients with type 2 diabetes mellitus, aged 18–80 years, who had received maintenance hemodialysis for less than 2 years were included by 178 dialysis centers in Germany into the 4 D study (Die Deutsche Diabetes Dialyse Studie/German Diabetes and Dialysis Study)." . _:29ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10627490/fullTextXML"; rdfs:comment "Patients with type 2 diabetes mellitus, aged 18–80 years, who had received maintenance hemodialysis for less than 2 years were included by 178 dialysis centers in Germany into the 4 D study (Die Deutsche Diabetes Dialyse Studie/German Diabetes and Dialysis Study)." . _:29ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90320249"; "Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization."; "PMID:37096546", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10586470/unicode"; rdfs:comment "We found that this variant showed a robust negative effect on sclerostin in all cohorts; however, the genetic effect estimate was particularly large in the 4D cohort, comprising individuals with end‐stage chronic kidney disease (CKD) (Supplementary Table 5B)." . _:29af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, double-blind, placebo-controlled trial, begun in 1998 at dialysis centres throughout Germany, of adults aged 18–80 with type 2 diabetes who had been on maintenance haemodialysis for less than two years, which tested whether atorvastatin lowers the risk of cardiovascular death, non-fatal myocardial infarction and stroke, and followed its participants for a median of four years."; "PMID:10412782", "PMID:37779851", "PMID:37806305"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1255; "patients randomised to atorvastatin or placebo"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10539202/fullTextXML"; rdfs:comment "The 4D Study was a multicentre, randomized, double-blind, prospective study enrolling 1255 participants with T2DM receiving maintenance HD at 178 centres who were randomly assigned to receive 20 mg of atorvastatin or matching placebo daily." . _:29b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "4D"; . _:29b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DDDD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11507, _:genid-371333f489424440b12a13b9d98ced822608-genid11509; , ; "GCST90455614"; "A multicentre prospective observational cohort study, which from 2003 enrolled people of African descent and of European descent without glaucoma, with suspected glaucoma or with glaucoma at the University of California San Diego, the New York Eye and Ear Infirmary and the University of Alabama at Birmingham, United States, and followed them with repeated visual function testing and optic nerve imaging to identify why glaucoma onset and progression differ between people of African and European descent. Its third phase (ADAGES III) recruited, in 2014–2016 at five US centres, patients with primary open-angle glaucoma and controls of African or European descent, with DNA, to study the genetics of the disease in people of African descent."; 1221; "ADAGES"; ; rdfs:label "African Descent and Glaucoma Evaluation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11507 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11509 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11507; "glaucoma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6050158/unicode"; rdfs:comment "The 3266 ADAGES III study participants in this report include 2146 AD POAG patients, 695 ED POAG patients, 198 AD controls and 227 ED controls." . _:29b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11509; "primary open-angle glaucoma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6050158/unicode"; rdfs:comment "The 3266 ADAGES III study participants in this report include 2146 AD POAG patients, 695 ED POAG patients, 198 AD controls and 227 ED controls." . _:29b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6050158/unicode"; rdfs:comment "There were 3266 glaucoma patients and controls without glaucoma of African or European descent recruited from five study centers in different regions of the United States." . _:29b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90455614"; "A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma."; "PMID:38242088", "https://europepmc.org/api/getPdf?pmcid=PMC11844349"; rdfs:comment "This study included three African ancestry datasets in the discovery analyses (n=11,275): (1) African Descent and Glaucoma Evaluation Study study (n=1,999), (2) Genetics of Glaucoma in People of African Descent consortium (n=2,952), and (3) Primary Open-Angle African American Glaucoma Genetics study (n=6,324)." . _:29b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective observational cohort study, which from 2003 enrolled people of African descent and of European descent without glaucoma, with suspected glaucoma or with glaucoma at the University of California San Diego, the New York Eye and Ear Infirmary and the University of Alabama at Birmingham, United States, and followed them with repeated visual function testing and optic nerve imaging to identify why glaucoma onset and progression differ between people of African and European descent. Its third phase (ADAGES III) recruited, in 2014–2016 at five US centres, patients with primary open-angle glaucoma and controls of African or European descent, with DNA, to study the genetics of the disease in people of African descent."; "PMID:19752422", "PMID:29361356", "PMID:30352225"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1221; "participants of the original observational cohort (ADAGES I/II)"; "PMID:19752422"; rdfs:comment "A prospective, multicenter observational cohort study of 1221 participants of African descent and European descent with no glaucoma (normal), suspected glaucoma, and glaucoma." . _:29b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADAGES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11516; , ; "GCST90668017"; "A case-control study of B-cell acute lymphoblastic leukaemia in Black or African American children and young adults diagnosed at ages 0–25 in the United States, run from the University of Minnesota, which gathered germline DNA of cases from Children's Oncology Group frontline trials, from newborn dried blood spots held by the Michigan BioTrust for Health and linked to the state cancer registry, and from hospital leukaemia biobanks, with controls matched on sex and ancestry from Michigan newborn blood spots and paediatric well-child visits. It investigates African ancestry-specific genetic susceptibility to B-cell acute lymphoblastic leukaemia and its relation to disease subtype and survival."; 840; 3360; 4200; "ADMIRAL", "ADMIRAL Study", "Admixture and Risk of Acute Leukemia"; ; rdfs:label "ADMIxture and Risk of Acute Leukemia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11516 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11516; "B-cell acute lymphoblastic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12546916/fullTextXML"; rdfs:comment "Children with a pathologically-verified diagnosis of B-ALL (ICD-O-3 histology 9811-9818, 9820, 9823, 9826, 9827, 9831-9837, 9940, 9948) at 0-25 years of age who identified as Black or African American from the ADMIRAL study were included." . _:29bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12546916/fullTextXML"; rdfs:comment "Archived newborn dried blood spots (DBS) with matching birth certificate information held by the Michigan BioTrust for Health were obtained for cases and calendar birth year-, sex-, and race/ethnicity-matched (based on mother’s race/ethnicity) controls with no cancer history were obtained as a part of a larger population-based case-control study with linked cancer registry information through the Michigan Cancer Surveillance Program" . _:29bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90668017"; "Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci."; "PMID:41125582", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12546916/fullTextXML"; rdfs:comment "In this study, we show differences in the genetic architecture of childhood B-ALL risk in African ancestral populations with an analysis of 4200 African American children, including 840 B-ALL cases, as a part of the ADMIxture and Risk of Acute Leukemia (ADMIRAL) Study." . _:29bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of B-cell acute lymphoblastic leukaemia in Black or African American children and young adults diagnosed at ages 0–25 in the United States, run from the University of Minnesota, which gathered germline DNA of cases from Children's Oncology Group frontline trials, from newborn dried blood spots held by the Michigan BioTrust for Health and linked to the state cancer registry, and from hospital leukaemia biobanks, with controls matched on sex and ancestry from Michigan newborn blood spots and paediatric well-child visits. It investigates African ancestry-specific genetic susceptibility to B-cell acute lymphoblastic leukaemia and its relation to disease subtype and survival."; "PMID:41125582"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 840; "African American children in the GWAS (840 B-ALL cases, 3360 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12546916/fullTextXML"; rdfs:comment "In this study, we show differences in the genetic architecture of childhood B-ALL risk in African ancestral populations with an analysis of 4200 African American children, including 840 B-ALL cases, as a part of the ADMIxture and Risk of Acute Leukemia (ADMIRAL) Study." . _:29bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3360; "African American children in the GWAS (840 B-ALL cases, 3360 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12546916/fullTextXML"; rdfs:comment "In this study, we show differences in the genetic architecture of childhood B-ALL risk in African ancestral populations with an analysis of 4200 African American children, including 840 B-ALL cases, as a part of the ADMIxture and Risk of Acute Leukemia (ADMIRAL) Study." . _:29c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4200; "African American children in the GWAS (840 B-ALL cases, 3360 controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12546916/fullTextXML"; rdfs:comment "In this study, we show differences in the genetic architecture of childhood B-ALL risk in African ancestral populations with an analysis of 4200 African American children, including 840 B-ALL cases, as a part of the ADMIxture and Risk of Acute Leukemia (ADMIRAL) Study." . _:29c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADMIRAL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11525; , ; ; "GCST001595"; "A family study of the Old Order Amish of Lancaster County, Pennsylvania, United States, begun by the University of Maryland in 1997, which identified Amish adults with osteoporosis by bone mineral density screening and recruited their first-degree relatives aged 20 and over and their spouses, measuring bone density by dual-energy X-ray absorptiometry, to find genetic and clinical determinants of osteoporosis and bone health in large multigenerational families."; 964; "AFOS"; ; rdfs:label "Amish Family Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11525 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11525; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5940677/fullTextXML"; rdfs:comment "After the identification of individuals with osteoporosis by BMD, family members were recruited including first-degree relatives aged 20 years and older." . _:29c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Amish Family Osteoporosis Study (AFOS) study was designed to identify genetic determinants of osteoporosis in the Old Order Amish (OOA) population from Lancaster County, PA USA [49], [50]." . _:29c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001595"; "WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk."; "PMID:22792071", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Amish Family Osteoporosis Study (AFOS) study was designed to identify genetic determinants of osteoporosis in the Old Order Amish (OOA) population from Lancaster County, PA USA [49], [50]." . _:29c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of the Old Order Amish of Lancaster County, Pennsylvania, United States, begun by the University of Maryland in 1997, which identified Amish adults with osteoporosis by bone mineral density screening and recruited their first-degree relatives aged 20 and over and their spouses, measuring bone density by dual-energy X-ray absorptiometry, to find genetic and clinical determinants of osteoporosis and bone health in large multigenerational families."; "PMID:15899951", "PMID:16939402", "PMID:29739999"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 964; "family members with DXA bone density in the 2006 linkage analysis"; "PMID:16939402"; rdfs:comment "BMD was measured at the spine, hip, and radius using DXA in 964 participants (mean age, 50.2 +/- 16.3 [SD] years; range, 18-99 years) from large multigenerational families." . _:29c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11532; , ; "GCST90293085"; "A consortium of genetic epidemiology studies of type 2 diabetes and related traits in people of East Asian ancestry, mostly population-, hospital- or family-based cohorts in East and South-East Asia, which meta-analyses its member studies' genome-wide association results in trait-specific groups (such as AGEN-T2D and AGEN-BP) for type 2 diabetes, glycaemic traits, adiposity, adiponectin, blood pressure and kidney function."; 77418; 356122; 433540; "AGEN", "AGEN-T2D", "AGENT2D", "Asian Genetic Epidemiology Network Consortium", "Asian Genetic Epidemiology Network Type 2 Diabetes Consortium"; ; rdfs:label "Asian Genetic Epidemiology Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11532 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11532; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7292783/fullTextXML"; rdfs:comment "The East Asian type 2 diabetes (T2D) meta-analyses were performed with studies participating in the Asian Genetic Epidemiology Network (AGEN), a consortium of genetic epidemiology studies of T2D and related traits conducted in individuals of East Asian ancestry" . _:29c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "VU/SCI SDGS Chinese 1019 1710 2729 Population-based" . _:29ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "SJTU SDIID/SDS Chinese 3410 3412 6822 SDIID: case-control, SDS: community-based" . _:29cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90293085"; "A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin."; "PMID:37859345", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10652123/fullTextXML"; rdfs:comment "Leveraging summary statistics from diverse genetic studies, we conducted a cross-ancestry, genome-wide meta-analysis for adiponectin in up to 46,434 individuals from the Metabolic Syndrome in Men (METSIM) cohort and the Adiponectin Genetics (ADIPOGen) and Asian Genetic Epidemiology Network (AGEN) consortiums.4,5,15 Our primary objectives were to (1) discover previously unreported loci associated with plasma adiponectin levels, (2) narrow putative causal variants underlying the association signals, (3) prioritize target genes systematically by using our proposed Gene Priority Score (GPScore) approach based on evidence derived from 11 gene prioritization strategies and physical distance to" . _:29cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of genetic epidemiology studies of type 2 diabetes and related traits in people of East Asian ancestry, mostly population-, hospital- or family-based cohorts in East and South-East Asia, which meta-analyses its member studies' genome-wide association results in trait-specific groups (such as AGEN-T2D and AGEN-BP) for type 2 diabetes, glycaemic traits, adiposity, adiponectin, blood pressure and kidney function."; "PMID:22797727", "PMID:23105927", "PMID:24647736", "PMID:32499647", "PMID:37859345"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 77418; "cases and controls in the 2020 AGEN type 2 diabetes meta-analysis (23 GWAS)"; "PMID:32499647"; rdfs:comment "Identification of type 2 diabetes loci in 433,540 East Asian individuals." . _:29ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 356122; "cases and controls in the 2020 AGEN type 2 diabetes meta-analysis (23 GWAS)"; "PMID:32499647"; rdfs:comment "Identification of type 2 diabetes loci in 433,540 East Asian individuals." . _:29cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 433540; "cases and controls in the 2020 AGEN type 2 diabetes meta-analysis (23 GWAS)"; "PMID:32499647"; rdfs:comment "Identification of type 2 diabetes loci in 433,540 East Asian individuals." . _:29d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGEN"; . _:29d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGEN-T2D"; . _:29d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGENT2D"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11544, _:genid-371333f489424440b12a13b9d98ced822608-genid11546; , ; ; "GCST90269914"; "An ongoing community-based cohort of current and former people who inject drugs in and around Baltimore, Maryland, United States, established in 1988 as a natural history study of the incidence and progression of HIV infection."; 5500; "AIDS Linked to the Intravenous Experience", "AIDS linked to the IntraVenous experience", "ALIVE"; ; rdfs:label "AIDS Linked to the IntraVenous Experience"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11544 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11546 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11544; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The AIDS Linked to the IntraVenous Experience (ALIVE) study is a natural history study following the incidence and progression of HIV infection among intravenous drug users (IDUs) in Baltimore, MD." . _:29d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11546; "injection drug use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The AIDS Linked to the IntraVenous Experience (ALIVE) study is a natural history study following the incidence and progression of HIV infection among intravenous drug users (IDUs) in Baltimore, MD." . _:29d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42461483+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Nested within the AIDS Linked to the IntraVenous Experience (ALIVE) study, an ongoing community-based cohort of former and current PWID in Baltimore, Maryland, we conducted an ego-centric drug use network survey among n = 237 PWID who reported any injection drug use in the last 12 months from across the metropolitan region in 2018-2019 and examined prospective associations between network geography and injection drug use, sharing, and non-fatal overdose at 6-month follow-up visits." . _:29d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269914"; "Africa-specific human genetic variation near CHD1L associates with HIV-1 load."; "PMID:37532928", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The AIDS Linked to the IntraVenous Experience (ALIVE) study is a natural history study following the incidence and progression of HIV infection among intravenous drug users (IDUs) in Baltimore, MD." . _:29d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing community-based cohort of current and former people who inject drugs in and around Baltimore, Maryland, United States, established in 1988 as a natural history study of the incidence and progression of HIV infection."; "PMID:20450418", "PMID:37532928", "PMID:42461483"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:29d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5500; "people who inject drugs enrolled since 1988 across all enrolment periods (stated as \"over 5500\", a lower bound)"; "https://doi.org/10.1007/s10461-026-05227-x"; rdfs:comment "Since 1988, over 5500 PWID have been enrolled across several enrollment periods." . _:29d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ALIVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11553, _:genid-371333f489424440b12a13b9d98ced822608-genid11555, _:genid-371333f489424440b12a13b9d98ced822608-genid11557; , ; "GCST001266"; "A multicentre, population-based case-control-family study in Australia, recruiting people with early-onset first-primary cutaneous melanoma, population-based and spouse or friend controls, and their relatives, between 2001 and 2005, to investigate genetic and environmental influences on melanoma risk."; 629; 1164; "AMFS"; ; rdfs:label "Australian Melanoma Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11553 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11555 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11557 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11553; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19887461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, first-primary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls." . _:29db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11555; "solar ultraviolet exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19887461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new strategies for melanoma control." . _:29dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11557; "lifetime sun exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19887461+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Discovering and understanding genetic risk factors for melanoma and their interactions with phenotype, sun exposure, and other risk factors could lead to new strategies for melanoma control." . _:29dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6249137/fullTextXML"; rdfs:comment "Recruitment of case (n = 629) and control (n = 535) participants was locally coordinated in Sydney, Melbourne, and Brisbane, Australia." . _:29de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001266"; "Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3."; "PMID:21983785", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3227560/fullTextXML"; rdfs:comment "Melanoma cases of European descent (n=2,168) were selected from the Queensland study of Melanoma: Environment and Genetic Associations (Q-MEGA)6 and the Australian Melanoma Family Study7 (AMFS)." . _:29df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, population-based case-control-family study in Australia, recruiting people with early-onset first-primary cutaneous melanoma, population-based and spouse or friend controls, and their relatives, between 2001 and 2005, to investigate genetic and environmental influences on melanoma risk."; "PMID:19887461"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 629; "probands recruited 2001-2005 (629 cases, 240 population controls, 295 spouse/friend controls); relatives not counted"; "PMID:19887461"; rdfs:comment "From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, first-primary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls." . _:29e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1164; "probands recruited 2001-2005 (629 cases, 240 population controls, 295 spouse/friend controls); relatives not counted"; "PMID:19887461"; rdfs:comment "From 2001 to 2005, the authors recruited 1,164 probands including 629 cases with histopathologically confirmed, first-primary cutaneous melanoma diagnosed before age 40 years, 240 population-based controls frequency matched for age, and 295 spouse/friend controls." . _:29e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11565; , , , , , , , ; "GCST90446654"; "A consortium of seven independent studies of people of European ancestry in the United States, Switzerland, the Netherlands, Germany and Australia (the Molecular Genetics of Schizophrenia control sample, PsyCoLaus, the Rotterdam Study, the Study of Health in Pomerania, the QIMR twin sample, TRAILS and NESDA/NTR), with interview-based DSM diagnoses of anxiety disorders, formed to meta-analyse genome-wide association studies of generalized anxiety disorder, panic disorder, social phobia, agoraphobia and specific phobia."; 18000; "ANGST", "Anxiety NeuroGenetics STudy (ANGST) Consortium", "Anxiety NeuroGenetics STudy Consortium"; ; rdfs:label "Anxiety NeuroGenetics STudy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11565 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11565; "anxiety disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4940340/fullTextXML"; rdfs:comment "Nine samples containing AD phenotypes from seven independent studies participating in the Anxiety NeuroGenetics STudy (ANGST) Consortium were included in the meta-analysis." . _:29e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2015.197/MediaObjects/41380_2016_BFmp2015197_MOESM495_ESM.pdf"; rdfs:comment "The QIMR sample is an Australian twin/family sample by design from which we selected one representative member from each family for consistency of analysis with the other samples." . _:29e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2015.197/MediaObjects/41380_2016_BFmp2015197_MOESM495_ESM.pdf"; rdfs:comment "SHIP and PsyCoLaus were psychiatric sub-studies of medical research cohorts ascertained in Germany and Switzerland, respectively." . _:29e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2015.197/MediaObjects/41380_2016_BFmp2015197_MOESM495_ESM.pdf"; rdfs:comment "Three cohorts come from the Netherlands." . _:29e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2015.197/MediaObjects/41380_2016_BFmp2015197_MOESM495_ESM.pdf"; rdfs:comment "MGS is the control sample collected in the US for a schizophrenia case-control study." . _:29e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90446654"; "Genome-wide meta-analysis, functional genomics and integrative analyses implicate new risk genes and therapeutic targets for anxiety disorders."; "PMID:37945807", "https://www.nature.com/articles/s41562-023-01746-y"; rdfs:comment "The genome-wide summary statistics of ANGST were downloaded from https://figshare.com/ndownloader/articles/14842689/versions/1." . _:29e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of seven independent studies of people of European ancestry in the United States, Switzerland, the Netherlands, Germany and Australia (the Molecular Genetics of Schizophrenia control sample, PsyCoLaus, the Rotterdam Study, the Study of Health in Pomerania, the QIMR twin sample, TRAILS and NESDA/NTR), with interview-based DSM diagnoses of anxiety disorders, formed to meta-analyse genome-wide association studies of generalized anxiety disorder, panic disorder, social phobia, agoraphobia and specific phobia."; "PMID:26754954"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18000; "unrelated individuals in the 2016 anxiety-disorder GWAS meta-analysis of nine samples (stated as \"over 18 000\")"; "PMID:26754954"; rdfs:comment "Meta-analysis for each phenotype combined results across the nine samples for over 18 000 unrelated individuals." . _:29eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANGST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11575; , , , , ; "GCST001595"; "A sample of postmenopausal women aged 55–85 of white European ancestry with extreme high or extreme low hip bone mineral density, recruited from population-based and clinical sources at centres in Australia, New Zealand and the United Kingdom by the Anglo-Australasian Osteoporosis Genetics Consortium and genotyped together for a genome-wide association study of bone mineral density and fracture that used extreme truncate selection."; 1955; "AOGC"; ; rdfs:label "Anglo-Australasian Osteoporosis Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11575; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080863/fullTextXML"; rdfs:comment "To identify genes associated with osteoporosis, we have performed a genome-wide association study." . _:29ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080863/fullTextXML"; rdfs:comment "The discovery sample population included 1128 Australian, 74 New Zealand and 753 British women, between 55–85 years of age, five or more years postmenopausal" . _:29ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001595"; "WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk."; "PMID:22792071", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390364/fullTextXML"; rdfs:comment "The Anglo-Australasian Osteoporosis Genetics Consortium (AOGC) study collected unrelated individuals with extreme BMD phenotypes as a powerful strategy for gene discovery in quantitative traits [11], [52]." . _:29ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of postmenopausal women aged 55–85 of white European ancestry with extreme high or extreme low hip bone mineral density, recruited from population-based and clinical sources at centres in Australia, New Zealand and the United Kingdom by the Anglo-Australasian Osteoporosis Genetics Consortium and genotyped together for a genome-wide association study of bone mineral density and fracture that used extreme truncate selection."; "PMID:21533022", "PMID:22792071"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1955; "postmenopausal women with extreme high or low hip BMD in the GWAS discovery sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080863/fullTextXML"; rdfs:comment "In order to improve study power and to address the demographic group of highest risk from osteoporotic fracture, we have used a unique study design, studying 1,955 postmenopausal women with either extreme high or low hip bone mineral density." . _:29f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AOGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11582; , ; "GCST90624455"; "A randomised, double-blind, placebo-controlled, two-stage adaptive trial, funded by the NIHR Efficacy and Mechanism Evaluation programme, that enrolled adults with palmoplantar pustulosis severe enough to need systemic therapy at 16 sites in England, Scotland and Wales between October 2016 and January 2020, to test whether 8 weeks of the interleukin-1 receptor antagonist anakinra reduces disease severity."; 64; "APRICOT", "Anakinra for Pustular psoriasis: Response in a Controlled Trial", "Anakinra for pustular psoriasis trial"; ; rdfs:label "Anakinra for Pustular Psoriasis: Response in a Controlled Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11582 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11582; "palmoplantar pustulosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34411292+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To determine whether anakinra (an IL-1 receptor antagonist) delivers therapeutic benefit in PPP." . _:29f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9255857/fullTextXML"; rdfs:comment "This was a randomized (1 : 1), double‐blind, two‐staged, adaptive, UK multicentre, placebo‐controlled trial" . _:29f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624455"; "A genome-wide meta-analysis of palmoplantar pustulosis implicates TH2 responses and cigarette smoking in disease pathogenesis."; "PMID:38815935", "https://www.medrxiv.org/content/medrxiv/early/2024/01/17/2024.01.17.24301406.full.pdf"; rdfs:comment "The UK dataset included 288 affected individuals of European descent, who were recruited in specialist dermatology centers as part of the APRICOT clinical trial" . _:29f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled, two-stage adaptive trial, funded by the NIHR Efficacy and Mechanism Evaluation programme, that enrolled adults with palmoplantar pustulosis severe enough to need systemic therapy at 16 sites in England, Scotland and Wales between October 2016 and January 2020, to test whether 8 weeks of the interleukin-1 receptor antagonist anakinra reduces disease severity."; "PMID:30157880", "PMID:34411292"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 64; "participants randomised October 2016 - January 2020 (31 anakinra, 33 placebo)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9255857/fullTextXML"; rdfs:comment "From October 2016 to January 2020, 374 patients were screened and 64 eligible participants were enrolled; 33 were randomized to placebo and 31 to anakinra (Figure 1)." . _:29f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APRICOT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11589; , , ; "GCST90026612"; "A prospective national registry, sponsored by Assistance Publique–Hôpitaux de Paris and coordinated at the Hôpital Européen Georges Pompidou in Paris, of adults with renal, cervical or intracranial artery fibromuscular dysplasia recruited from 2009 to 2014 at 16 university hospitals in France and Belgium, with standardised clinical and imaging data and leukocyte DNA collected to study multisite disease and to search for susceptibility genes."; 499; "ARCADIA", "Assessment of Renal and Cervical Artery Dysplasia"; ; rdfs:label "Assessment of Renal and Cervical Artery DysplasIA"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11589; "fibromuscular dysplasia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33998257+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ARCADIA registry includes women or men aged ≥18 years, with a diagnosis of renal, cervical, or intracranial artery FMD, who were prospectively recruited at 16 university hospitals in France and Belgium." . _:29f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33998257+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ARCADIA registry includes women or men aged ≥18 years, with a diagnosis of renal, cervical, or intracranial artery FMD, who were prospectively recruited at 16 university hospitals in France and Belgium." . _:29fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026612"; "Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases."; "PMID:34654805", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "FMD patients were included from the ARCADIA (Assessment of Renal and Cervical Artery DysplasIA) register, a national FMD registry at the Georges Pompidou European Hospital, APHP, Paris8." . _:29fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective national registry, sponsored by Assistance Publique–Hôpitaux de Paris and coordinated at the Hôpital Européen Georges Pompidou in Paris, of adults with renal, cervical or intracranial artery fibromuscular dysplasia recruited from 2009 to 2014 at 16 university hospitals in France and Belgium, with standardised clinical and imaging data and leukocyte DNA collected to study multisite disease and to search for susceptibility genes."; "PMID:33998257", "PMID:34654805", "https://clinicaltrials.gov/api/v2/studies/NCT02884141"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:29fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 499; "patients recruited into the registry 2009-2014 (FMD confirmed in 469)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8483547/fullTextXML"; rdfs:comment "As previously reported, among the 499 patients recruited in the ARCADIA study, FMD was confirmed in 469 patients, of whom 75 (16%) were men and 415 (89%) were Caucasian (Table 1)." . _:29fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCADIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11596, _:genid-371333f489424440b12a13b9d98ced822608-genid11598; , , , , , , , ; "GCST90102434"; "A multicentre randomised controlled trial that recruited hypertensive men and women aged 40–79 with at least three other cardiovascular risk factors, mostly through family practices in the United Kingdom, Ireland and the Nordic countries between February 1998 and May 2000, to compare an amlodipine-based with an atenolol-based antihypertensive regimen for preventing coronary and other cardiovascular events (the Blood Pressure-Lowering Arm), those with total cholesterol of 6.5 mmol/L or less being also randomised to atorvastatin or placebo in a factorial Lipid-Lowering Arm."; 19342; "ASCOT", "Anglo Scandinavian Cardiac Outcomes Trial", "Anglo-Scandinavian Cardiac Outcome Trial", "Anglo-Scandinavian cardiac Outcomes Trial"; ; rdfs:label "Anglo-Scandinavian Cardiac Outcomes Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11596 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11598 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:29fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11596; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12322408/fullTextXML"; rdfs:comment "ASCOT was a prospective randomised controlled trial of two different blood pressure-lowering strategies in 19 342 hypertensive subjects with three additional risk factors for CV disease—ASCOT Blood Pressure-Lowering Arm (BPLA)." . _:29ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11598; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12322408/fullTextXML"; rdfs:comment "ASCOT was a prospective randomised controlled trial of two different blood pressure-lowering strategies in 19 342 hypertensive subjects with three additional risk factors for CV disease—ASCOT Blood Pressure-Lowering Arm (BPLA)." . _:2a002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8769168/supplementaryFiles"; rdfs:comment "For this genome-wide study only a proportion of United Kingdom, Irish, Sweden, Norway, Finland and Denmark consented to participate." . _:2a012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10984564/fullTextXML"; rdfs:comment "The protocol and all subsequent amendments were reviewed and ratified by central and regional ethics review boards in the UK and by national ethics and statutory bodies in Ireland and the Nordic countries (Sweden, Denmark, Iceland, Norway, and Finland)." . _:2a022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10984564/fullTextXML"; rdfs:comment "In the Nordic countries, participants were recruited from 686 family practices and in the UK and Ireland, most participants were referred from family practices to the regional centres for the study." . _:2a032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90102434"; "The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction."; "PMID:35069183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8769168/fullTextXML"; rdfs:comment "The Anglo-Scandinavian Cardiac Outcomes Trial (ASCOT) trial was funded by an investigator-initiated grant from Pfizer USA." . _:2a042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised controlled trial that recruited hypertensive men and women aged 40–79 with at least three other cardiovascular risk factors, mostly through family practices in the United Kingdom, Ireland and the Nordic countries between February 1998 and May 2000, to compare an amlodipine-based with an atenolol-based antihypertensive regimen for preventing coronary and other cardiovascular events (the Blood Pressure-Lowering Arm), those with total cholesterol of 6.5 mmol/L or less being also randomised to atorvastatin or placebo in a factorial Lipid-Lowering Arm."; "PMID:38291599", "PMID:40139683"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19342; "hypertensive patients randomised in the Blood Pressure-Lowering Arm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12322408/fullTextXML"; rdfs:comment "ASCOT was a prospective randomised controlled trial of two different blood pressure-lowering strategies in 19 342 hypertensive subjects with three additional risk factors for CV disease—ASCOT Blood Pressure-Lowering Arm (BPLA)." . _:2a062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASCOT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11607; , ; "GCST001189"; "A case-control sample of people of Ashkenazi Jewish ancestry from the New York area, with Parkinson's disease cases recruited at the Center for Parkinson's Disease and Other Movement Disorders at Columbia University and controls evaluated in the same way, assembled from two Columbia University studies, the Genetic Epidemiology of PD study (PD EPI) and the AJ Study, for a genome-wide association study of Parkinson's disease."; 268; 178; "AJ GWAS dataset", "Ash-Jewish", "Ashkenazi Jewish Dataset"; ; rdfs:label "The Ashkenazi Jewish Dataset"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11607 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11607; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3166909/fullTextXML"; rdfs:comment "Briefly, for the PD EPI and AJ study, PD cases were recruited from the Center for PD and Other Movement Disorders at Columbia University." . _:2a082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3166909/fullTextXML"; rdfs:comment "We applied a GWAS approach to a relatively homogeneous Ashkenazi Jewish (AJ) population from New York to search for both 'rare' and 'common' genetic variants that confer risk of PD by examining any SNPs with allele frequencies exceeding 2%." . _:2a092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001189"; "Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population."; "PMID:21812969", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3166909/fullTextXML"; rdfs:comment "The AJ GWAS dataset was created by combining participants from two studies the Genetic Epidemiology of PD study (PD EPI) and the AJ Study." . _:2a0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of people of Ashkenazi Jewish ancestry from the New York area, with Parkinson's disease cases recruited at the Center for Parkinson's Disease and Other Movement Disorders at Columbia University and controls evaluated in the same way, assembled from two Columbia University studies, the Genetic Epidemiology of PD study (PD EPI) and the AJ Study, for a genome-wide association study of Parkinson's disease."; "PMID:21812969"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 268; "Parkinson's disease cases and controls genotyped for the AJ GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3166909/fullTextXML"; rdfs:comment "A total of 268 cases and 178 controls were genotyped using the Illumina Human 610-quad bead arrays (Cases n = 91 and Controls n = 96) or the Illumina Human 660-quad bead arrays (Cases n = 191 and Controls n = 84)." . _:2a0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 178; "Parkinson's disease cases and controls genotyped for the AJ GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3166909/fullTextXML"; rdfs:comment "A total of 268 cases and 178 controls were genotyped using the Illumina Human 610-quad bead arrays (Cases n = 91 and Controls n = 96) or the Illumina Human 660-quad bead arrays (Cases n = 191 and Controls n = 84)." . _:2a0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ash-Jewish"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11615; , , ; "GCST90301382"; "A prospective, matched cohort study, funded by the US National Institute of Diabetes and Digestive and Kidney Diseases, that enrolled hospitalised adults with and without acute kidney injury (AKI), matched on clinical research centre, pre-admission chronic kidney disease and other risk factors, at centres in the United States and Canada between December 2009 and February 2015, together with children undergoing cardiac surgery, and followed them after discharge to examine how an episode of AKI affects the development and progression of chronic kidney disease, cardiovascular events and death."; 769; 769; 1538; "ASSESS-AKI", "ASSESS-AKI Study", "Assessment, Serial Evaluation, and Subsequent Sequelae in Acute Kidney Injury Study", "Assessment, Serial Evaluation, and Subsequent Sequelae of AKI Study"; ; rdfs:label "Assessment, Serial Evaluation, and Subsequent Sequelae of Acute Kidney Injury Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11615 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11615; "acute kidney injury"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20799966+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This prospective study will enroll a cohort of 1100 adult participants with a broad range of AKI and matched hospitalized participants without AKI at three Clinical Research Centers, as well as 100 children undergoing cardiac surgery at three Clinical Research Centers." . _:2a0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7374148/fullTextXML"; rdfs:comment "during preoperative evaluation for cardiac surgery at Yale University (New Haven, CT) and London Health Sciences Center (Ontario, Canada)." . _:2a102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2944247/fullTextXML"; rdfs:comment "The multi-center cohort includes various U.S. and Canadian sites and health care delivery systems" . _:2a112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301382"; "Genome-wide Association Study for AKI."; "PMID:37273234", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10371295/fullTextXML"; rdfs:comment "We conducted a genome-wide association study in 1369 participants in the Assessment, Serial Evaluation, and Subsequent Sequelae of AKI Study; a multiethnic population of hospitalized participants with and without AKI matched on demographics, comorbidities, and kidney function before hospitalization." . _:2a122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, matched cohort study, funded by the US National Institute of Diabetes and Digestive and Kidney Diseases, that enrolled hospitalised adults with and without acute kidney injury (AKI), matched on clinical research centre, pre-admission chronic kidney disease and other risk factors, at centres in the United States and Canada between December 2009 and February 2015, together with children undergoing cardiac surgery, and followed them after discharge to examine how an episode of AKI affects the development and progression of chronic kidney disease, cardiovascular events and death."; "PMID:20799966", "PMID:32707221"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 769; "hospitalised adults with or without AKI (matched pairs) completing the 90-day visit; children not counted (2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10371295/fullTextXML"; rdfs:comment "The full ASSESS-AKI cohort included 1538 hospitalized adults who did or did not experience an episode of AKI and survived to complete a study visit 90 days after discharge." . _:2a142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 769; "hospitalised adults with or without AKI (matched pairs) completing the 90-day visit; children not counted (2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10371295/fullTextXML"; rdfs:comment "The full ASSESS-AKI cohort included 1538 hospitalized adults who did or did not experience an episode of AKI and survived to complete a study visit 90 days after discharge." . _:2a152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1538; "hospitalised adults with or without AKI (matched pairs) completing the 90-day visit; children not counted (2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10371295/fullTextXML"; rdfs:comment "The full ASSESS-AKI cohort included 1538 hospitalized adults who did or did not experience an episode of AKI and survived to complete a study visit 90 days after discharge." . _:2a162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASSESS-AKI"; . a owl:NamedIndividual, ; , ; "GCST010723"; "A population-based cohort of mobile people aged 70 and over from the city and county of Regensburg in eastern Bavaria, Germany, invited from random samples of the local residents' registries and examined at the University Hospital Regensburg in two baseline surveys (2013–2015 and 2017–2019), with interviews, medical and eye examinations, biobanking and genotyping and later follow-up, set up by the University of Regensburg as a research platform for late-onset chronic diseases and their genetic and non-genetic causes."; 2449; "Age-related diseases: understanding genetic and non-genetic influences - a study at the University of Regensburg", "Altersbezogene Untersuchungen zur Gesundheit der Universität Regensburg", "AugUR", "AugUR study"; ; rdfs:label "Age-related diseases: Understanding Genetic and non-genetic influences - a study at the University of Regensburg"@en . _:2a172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26489512+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We establish the German AugUR study (Age-related diseases: understanding genetic and non-genetic influences - a study at the University of Regensburg), a prospective study in the mobile elderly general population in and around Regensburg in eastern Bavaria." . _:2a182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST010723"; "Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease."; "PMID:32843070", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7449002/fullTextXML"; rdfs:comment "Our studies were primarily population-based cohort studies, where the baseline survey data were used for this analysis from studies of the authors (GHS, LIFE, NICOLA, KORA, AugUR) as well as for publicly available studies from dbGaP (ARIC, CHS, WHI; accession numbers: phs000090.v5.p1, phs000287.v6.p1, phs000746.v2.p3)." . _:2a192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of mobile people aged 70 and over from the city and county of Regensburg in eastern Bavaria, Germany, invited from random samples of the local residents' registries and examined at the University Hospital Regensburg in two baseline surveys (2013–2015 and 2017–2019), with interviews, medical and eye examinations, biobanking and genotyping and later follow-up, set up by the University of Regensburg as a research platform for late-onset chronic diseases and their genetic and non-genetic causes."; "PMID:26489512", "PMID:37721739"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2449; "participants of the two baseline surveys (AugUR1 2013-2015: 1133; AugUR2 2017-2019: 1316)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10511022/fullTextXML"; rdfs:comment "Among the 2449 AugUR participants (AugUR1: n = 1133 and AugUR2: n = 1316; and no overlap between the 2 datasets), information on AMD stages for at least one eye, as well as genetic data were available for 2188 persons (AugUR1: n = 1010 and AugUR2: n = 1178)." . _:2a1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AugUR"; . a owl:NamedIndividual, ; , ; ; "GCST90295957"; "A population-based cohort of the residents aged 60 and over of the town of Bambuí, in Minas Gerais, south-eastern Brazil, identified by a complete census on 1 January 1997 and examined at baseline in February–May 1997 with interviews, blood tests, blood pressure measurements and electrocardiograms, then followed with annual interviews, repeated examinations and death ascertainment to study health and mortality in older adults."; 1606; "BAMBUI", "BHAS", "Bambui Cohort Study of Ageing", "Bambuí (Brazil) Cohort Study of Ageing", "Bambuí (Brazil) Cohort Study of Aging", "Bambuí Cohort Study of Ageing", "Bambuí Health and Aging Study", "Bambuí-Epigen Cohort Study of Aging"; ; rdfs:label "Bambui (Brazil) Cohort Study of Ageing"@en . _:2a1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24737496+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study took place in Bambuí, Brazil." . _:2a1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90295957"; "Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas."; "PMID:38190104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10794846/fullTextXML"; rdfs:comment "Bambui (Brazil) Cohort Study of Ageing (BAMBUI): the EPIGEN-Brazil Initiative is funded by the Brazilian Ministry of Health (Department of Science and Technology from the Secretaria de Ciência, Tecnologia e Insumos Estratégicos) through Financiadora de Estudos e Projetos." . _:2a1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of the residents aged 60 and over of the town of Bambuí, in Minas Gerais, south-eastern Brazil, identified by a complete census on 1 January 1997 and examined at baseline in February–May 1997 with interviews, blood tests, blood pressure measurements and electrocardiograms, then followed with annual interviews, repeated examinations and death ascertainment to study health and mortality in older adults."; "PMID:23251690", "PMID:33633342"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1606; "residents aged 60+ enrolled at the 1997 baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3522641/fullTextXML"; rdfs:comment "Briefly, the baseline cohort population comprised 1,606 (92.2%) of all the 1,742 residents aged 60 years or more on January 1st, 1997, who were identified by means of a complete census carried out in the city." . _:2a202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAMBUI"; . _:2a212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BHAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11636; , ; "GCST90726344"; "A population-based prospective cohort of pregnant women in Uppsala County, Sweden, invited at their routine ultrasound examination at gestational week 16–18 at Uppsala University Hospital from September 2009 to November 2018 and followed to one year postpartum with web surveys, biological samples and medical-record data, to study the biopsychosocial causes and predictors of perinatal depression."; 5492; "BASIC", "The Biology, Affect, Stress, Imaging and Cognition Study"; ; rdfs:label "Biology, Affect, Stress, Imaging and Cognition study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11636; "perinatal depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31641004+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "With the population-based, prospective Biology, Affect, Stress, Imaging and Cognition (BASIC) cohort, we aim to investigate the biopsychosocial aetiological processes involved in perinatal depression (PND) and to pinpoint its predictors in order to improve early detection." . _:2a232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6830667/fullTextXML"; rdfs:comment "From September 2009 to November 2018, the BASIC study at Uppsala University Hospital, Sweden, has enrolled 5492 women, in 6478 pregnancies, of which 46.3% first-time pregnancies and with an average age of 31.5 years." . _:2a242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726344"; "Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression."; "PMID:41233554", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12695632/supplementaryFiles"; rdfs:comment "BASIC: The Biology, Affect, Stress, Imaging and Cognition (BASIC) study recruited 5,492 pregnant women from the Uppsala Hospital University (Uppsala, Sweden) and followed them and their children from pregnancy to one year postpartum between 2012 and 201911 ." . _:2a252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of pregnant women in Uppsala County, Sweden, invited at their routine ultrasound examination at gestational week 16–18 at Uppsala University Hospital from September 2009 to November 2018 and followed to one year postpartum with web surveys, biological samples and medical-record data, to study the biopsychosocial causes and predictors of perinatal depression."; "PMID:31641004"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5492; "women enrolled September 2009 - November 2018 (6478 pregnancies)"; "PMID:31641004"; rdfs:comment "From September 2009 to November 2018, the BASIC study at Uppsala University Hospital, Sweden, has enrolled 5492 women, in 6478 pregnancies, of which 46.3% first-time pregnancies and with an average age of 31.5 years." . _:2a272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BASIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11643; , ; ; "GCST90094651"; "A case-control study of breast cancer in the greater Baltimore area, Maryland, United States, in which incident breast cancer cases and controls frequency-matched to them on race and age were recruited from February 1993 to August 2003 at six hospitals, including the University of Maryland Medical Center and the Baltimore Veterans Affairs Medical Center, to identify and characterise markers of disease aggressiveness and poor outcome."; "The acronym BBCS also denotes Brescia Bladder Cancer Study (COHO:0000815) and British Breast Cancer Study (COHO:0001510); this term is Baltimore Breast Cancer Study."@en; 293; 317; "BBCS", "BBCS_c"; ; rdfs:label "Baltimore Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11643 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11643; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The BBCS is a case control study of breast cancer designed to identify and characterize markers of disease aggressiveness and poor outcome." . _:2a292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2a2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094651"; "Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis."; "PMID:34706928", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2a2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer in the greater Baltimore area, Maryland, United States, in which incident breast cancer cases and controls frequency-matched to them on race and age were recruited from February 1993 to August 2003 at six hospitals, including the University of Maryland Medical Center and the Baltimore Veterans Affairs Medical Center, to identify and characterise markers of disease aggressiveness and poor outcome."; "PMID:22357627", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 293; "breast cancer cases and cancer-free controls analysed in the 2006 MDM2 study (possibly a subset)"; "PMID:16818855"; rdfs:comment "We used multivariable logistic and Cox regression analyses to study the relationship of SNP309 status and the status of a second MDM2 SNP in exon 12 at codon 354 (SNP354) with breast cancer incidence and with disease-specific survival among 293 case patients and 317 cancer-free control subjects." . _:2a2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 317; "breast cancer cases and cancer-free controls analysed in the 2006 MDM2 study (possibly a subset)"; "PMID:16818855"; rdfs:comment "We used multivariable logistic and Cox regression analyses to study the relationship of SNP309 status and the status of a second MDM2 SNP in exon 12 at codon 354 (SNP354) with breast cancer incidence and with disease-specific survival among 293 case patients and 317 cancer-free control subjects." . _:2a2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCS"; . _:2a2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCS_c"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11652; , ; ; "GCST90244057"; "A population-based cohort of the residents of the city and township of Beaver Dam, Wisconsin, United States, aged 43 to 84 years at a private census begun in 1987. They were examined at baseline in 1988–1990 and re-examined about every five years (up to a 25-year follow-up in 2014–2016) by the University of Wisconsin-Madison, to study the prevalence, incidence and risk factors of age-related eye diseases, such as age-related macular degeneration and cataract, and of visual impairment."; 4926; "BDES"; ; rdfs:label "Beaver Dam Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11652 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11652; "age-related macular degeneration"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8344102/unicode"; rdfs:comment "The purpose of the BDES was to collect information on the prevalence, incidence, and potential causes or risk factors associated with AMD." . _:2a312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/supplementaryFiles"; rdfs:comment "The recruitment population consisted of European ancestry individuals ages 43-84 from the town of Beaver Dam, Wisconsin, United States. 4,926 individuals were recruited into the study from 1988- 1990." . _:2a322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244057"; "Rare variant analyses across multiethnic cohorts identify novel genes for refractive error."; "PMID:36596879", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "These 14 cohorts were: Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS), Rotterdam Study I (RSI), Erasmus Rucphen Family (ERF), Raine Eye Health Study (REHS) of the Raine Study, Beaver Dam Eye Study (BDES), Estonian Genome Center for the University of Tartu (EGCUT), Finnish Twin Study on Aging (FITSA), Ogliastra, Croatia-Korcula, TwinsUK, and EPIC-Norfolk." . _:2a332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of the residents of the city and township of Beaver Dam, Wisconsin, United States, aged 43 to 84 years at a private census begun in 1987. They were examined at baseline in 1988–1990 and re-examined about every five years (up to a 25-year follow-up in 2014–2016) by the University of Wisconsin-Madison, to study the prevalence, incidence and risk factors of age-related eye diseases, such as age-related macular degeneration and cataract, and of visual impairment."; "PMID:25905023", "PMID:29242907", "PMID:30208419", "PMID:32200810"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4926; "persons examined at baseline (1988-1990)"; "PMID:25905023"; rdfs:comment "In brief, a private census identified 5924 persons living in the city and township of Beaver Dam, Wisconsin aged 43–86 years, of which 4926 participated in the baseline examination in 1988–1990 and in up to four follow-up examinations in 1993–1995, 1998–2000, 2003–2005 and 2008–2010." . _:2a352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11659; , ; "GCST90239751"; "A prospective observational cohort of asymptomatic adults at risk of, but without, clinical atherosclerotic cardiovascular disease (men aged 55–80 and women aged 60–80). They were recruited in 2008–2009 by the High-Risk Plaque Initiative from members of the Humana health plan in Chicago, Illinois, and Fort Lauderdale, Florida, United States, and examined with vascular imaging and blood sampling, to identify imaging and circulating biomarkers that predict near-term atherothrombotic events."; 7687; "BIOIMAGE", "BioImage", "BioImage Study", "High Risk Plaque BioImage study"; ; rdfs:label "BioImage Study: A Clinical Study of Burden of Atherosclerotic Disease in an At-Risk Population"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11659 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11659; "atherosclerotic cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9558840/supplementaryFiles"; rdfs:comment "The BioImage study (NCT00738725) is a multi-ethnic, observational study aimed at characterizing subclinical atherosclerosis in 6,699 US adults (55-80 years at baseline, 2008- 2009) at risk for, but without, clinical atherosclerotic cardiovascular disease." . _:2a372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9558840/supplementaryFiles"; rdfs:comment "The BioImage study (NCT00738725) is a multi-ethnic, observational study aimed at characterizing subclinical atherosclerosis in 6,699 US adults (55-80 years at baseline, 2008- 2009) at risk for, but without, clinical atherosclerotic cardiovascular disease." . _:2a382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90239751"; "Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study."; "PMID:35234888", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9558840/supplementaryFiles"; rdfs:comment "The BioImage study (NCT00738725) is a multi-ethnic, observational study aimed at characterizing subclinical atherosclerosis in 6,699 US adults (55-80 years at baseline, 2008- 2009) at risk for, but without, clinical atherosclerotic cardiovascular disease." . _:2a392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of asymptomatic adults at risk of, but without, clinical atherosclerotic cardiovascular disease (men aged 55–80 and women aged 60–80). They were recruited in 2008–2009 by the High-Risk Plaque Initiative from members of the Humana health plan in Chicago, Illinois, and Fort Lauderdale, Florida, United States, and examined with vascular imaging and blood sampling, to identify imaging and circulating biomarkers that predict near-term atherothrombotic events."; "PMID:21800090", "PMID:35234888", "https://clinicaltrials.gov/api/v2/studies/NCT00738725"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7687; "subjects who completed enrolment (all three groups), 2009"; "PMID:21800090"; rdfs:comment "Of this population, 7687 subjects completed enrollment, of which 865 were enrolled as “survey-only” participants, 718 were enrolled in the Framingham-only group, and 6104 were enrolled in the full study group (see Fig. 1)." . _:2a3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOIMAGE"; . _:2a3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BioImage"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11667, _:genid-371333f489424440b12a13b9d98ced822608-genid11669, _:genid-371333f489424440b12a13b9d98ced822608-genid11671, _:genid-371333f489424440b12a13b9d98ced822608-genid11673; , ; ; "GCST90094651"; "A nationwide population-based case-control study of breast and prostate cancer in Barbados-born residents of Barbados. It was run by Stony Brook University with the Barbados Ministry of Health and the University of the West Indies and funded by the US National Human Genome Research Institute. Its breast cancer arm enrolled every histologically confirmed incident breast cancer identified by the island's only pathology department, at the Queen Elizabeth Hospital, from July 2002 to March 2006, with controls randomly selected from a national database and frequency-matched by age. The aim was to study environmental and genetic risk factors in this predominantly African-origin population."; 241; 481; "BNCS"; ; rdfs:label "Barbados National Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11667 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11669 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11667; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The BNCS is a population-based case-control study of incident breast and prostate cancer in the predominantly African population of Barbados, West Indies" . _:2a3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11669; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The BNCS is a population-based case-control study of incident breast and prostate cancer in the predominantly African population of Barbados, West Indies" . _:2a3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11671; "dietary intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20843400+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BNCS is a case-control study of environmental risk factors for breast and prostate cancer in a predominantly African-origin population in Barbados." . _:2a402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11673; "environmental risk factors for breast and prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20843400+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BNCS is a case-control study of environmental risk factors for breast and prostate cancer in a predominantly African-origin population in Barbados." . _:2a412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20843400+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BNCS is a case-control study of environmental risk factors for breast and prostate cancer in a predominantly African-origin population in Barbados." . _:2a422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094651"; "Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis."; "PMID:34706928", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2a432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based case-control study of breast and prostate cancer in Barbados-born residents of Barbados. It was run by Stony Brook University with the Barbados Ministry of Health and the University of the West Indies and funded by the US National Human Genome Research Institute. Its breast cancer arm enrolled every histologically confirmed incident breast cancer identified by the island's only pathology department, at the Queen Elizabeth Hospital, from July 2002 to March 2006, with controls randomly selected from a national database and frequency-matched by age. The aim was to study environmental and genetic risk factors in this predominantly African-origin population."; "PMID:18814239", "PMID:22357627"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 241; "breast cancer arm: incident cases and age-matched female controls (2002-2006)"; "PMID:18814239"; rdfs:comment "The BNCS included 241 incident BC cases and 481 age-matched female controls, with mean ages of 57 and 56 years, respectively." . _:2a452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 481; "breast cancer arm: incident cases and age-matched female controls (2002-2006)"; "PMID:18814239"; rdfs:comment "The BNCS included 241 incident BC cases and 481 age-matched female controls, with mean ages of 57 and 56 years, respectively." . _:2a462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BNCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11681; , ; "GCST000679"; "A single-centre prospective observational registry cohort of adults with rheumatoid arthritis diagnosed by a rheumatologist, enrolled from March 2003 at the Brigham and Women's Hospital Arthritis Center in Boston, Massachusetts, United States. Participants are followed with annual visits, semi-annual questionnaires and stored blood samples, to find biomarkers that predict drug response, toxicity, disease activity and prognosis and to describe the natural history of treated rheumatoid arthritis."; 1598; "BRASS", "Brigham Rheumatoid Arthritis Sequential Study", "Brigham and Women's Hospital Rheumatoid Arthritis Sequential Study"; ; rdfs:label "Brigham and Women's Rheumatoid Arthritis Sequential Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11681; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6474583/fullTextXML"; rdfs:comment "The Brigham and Women’s Hospital Rheumatoid Arthritis Sequential Study (BRASS) is a single-center, prospective, observational cohort of over 1,300 RA patients [17]." . _:2a482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6474583/fullTextXML"; rdfs:comment "Enrollment for the registry began in March of 2003 in the Brigham and Women’s Hospital Arthritis Center in the United States." . _:2a492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST000679"; "Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci."; "PMID:20453842", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4243840/unicode"; rdfs:comment "This study expands upon our previous GWAS meta-analysis of 3,393 cases and 12,462 controls by (a) adding a new GWAS dataset of 483 RA cases recruited from the Boston area (Brigham Rheumatoid Arthritis Sequential Study, BRASS) and 1,449 shared controls, (b) adding 513 cases and 431 controls recruited from Sweden (Epidemiological Investigation of Rheumatoid Arthritis, EIRA), (c) incorporating a recently published GWAS of 2,418 cases and 4,504 controls recruited from North America (Canada and North American Rheumatoid Arthritis Consortium-III, NARAC-III), and (d) adding additional shared controls to the NARAC-III dataset." . _:2a4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre prospective observational registry cohort of adults with rheumatoid arthritis diagnosed by a rheumatologist, enrolled from March 2003 at the Brigham and Women's Hospital Arthritis Center in Boston, Massachusetts, United States. Participants are followed with annual visits, semi-annual questionnaires and stored blood samples, to find biomarkers that predict drug response, toxicity, disease activity and prognosis and to describe the natural history of treated rheumatoid arthritis."; "PMID:31002669", "PMID:33002337", "https://clinicaltrials.gov/api/v2/studies/NCT01793103"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1598; "patients enrolled (actual enrolment in the registry record), 2025"; "https://clinicaltrials.gov/api/v2/studies/NCT01793103"; rdfs:comment "\"enrollmentInfo\":{\"count\":1598,\"type\":\"ACTUAL\"}" . _:2a4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRASS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11688; , ; "GCST90301252"; "A UK collection of adults with Dupuytren's disease who had been treated surgically for it. Saliva samples for DNA, and diseased palmar fascia removed at surgery, were collected by the British Society for Surgery of the Hand Genetics of Dupuytren's Disease (BSSH-GODD) consortium for genetic studies of the disease."; 5408; "BSSH-GODD"; ; rdfs:label "British Society for Surgery of the Hand Genetics of Dupuytren's Disease study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11688 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11688; "Dupuytren's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "The UK cohort consisted of a total of 5,408 case subjects from the BSSH-GODD Study and 9,961 population-based control subjects from the United Kingdom Household Longitudinal Study (UKHLS), which were divided into 4,891 control subjects for the discovery phase and 5,070 control subjects for the replication phase." . _:2a4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "The UK cohort consisted of a total of 5,408 case subjects from the BSSH-GODD Study and 9,961 population-based control subjects from the United Kingdom Household Longitudinal Study (UKHLS), which were divided into 4,891 control subjects for the discovery phase and 5,070 control subjects for the replication phase." . _:2a4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301252"; "A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease."; "PMID:38172110", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10764787/fullTextXML"; rdfs:comment "This study (‘The role of genetic variants in Dupuytren disease’) has Lifelines study ID OV18_0461; (3) The British Society for Surgery of the Hand Genetics of Dupuytren’s Disease (BSSH-GODD) study (United Kingdom) was approved by the Oxfordshire Research Ethics Committee, document number B/09/H0605/65; (4) The UK Biobank (United Kingdom) was approved by the North West Multi-Centre Research Ethics Committee, document number 11/NW/0382." . _:2a502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK collection of adults with Dupuytren's disease who had been treated surgically for it. Saliva samples for DNA, and diseased palmar fascia removed at surgery, were collected by the British Society for Surgery of the Hand Genetics of Dupuytren's Disease (BSSH-GODD) consortium for genetic studies of the disease."; "PMID:28886342", "https://metadata.ega-archive.org/studies/EGAS00001001206"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5408; "Dupuytren's disease case subjects in the 2017 GWAS"; "PMID:28886342"; rdfs:comment "The UK cohort consisted of a total of 5,408 case subjects from the BSSH-GODD Study and 9,961 population-based control subjects from the United Kingdom Household Longitudinal Study (UKHLS), which were divided into 4,891 control subjects for the discovery phase and 5,070 control subjects for the replication phase." . _:2a522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSSH-GODD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11695, _:genid-371333f489424440b12a13b9d98ced822608-genid11697; , ; ; "GCST90709787"; "An observational, longitudinal, population-representative incident cohort of people newly diagnosed with parkinsonism or Parkinson's disease in the county of Cambridgeshire, United Kingdom, between December 2000 and December 2002. Cases were referred through general practitioners, neurologists, geriatricians, Parkinson's disease specialist nurses and hospital discharge coding, and were followed from diagnosis by the University of Cambridge with clinical, neuropsychological and genetic assessments, to describe the natural history of Parkinson's disease."; 142; "CamPaIGN", "CamPaiGN"; ; rdfs:label "Cambridgeshire Parkinson's Incidence from GP to Neurologist"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11695 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11697 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11695; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14691062+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have used multiple sources to identify a population-representative cohort of newly diagnosed patients with parkinsonism and Parkinson's disease in the UK over a 2-year period." . _:2a542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11697; "parkinsonism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14691062+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have used multiple sources to identify a population-representative cohort of newly diagnosed patients with parkinsonism and Parkinson's disease in the UK over a 2-year period." . _:2a552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "The Cambridgeshire Parkinson’s Incidence from GP to Neurologist (CamPaIGN) study is an observational, longitudinal study of incident PD patients in the county of Cambridgeshire, UK55,56." . _:2a562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709787"; "Genome-wide determinants of mortality and motor progression in Parkinson's disease."; "PMID:38849413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "The Cambridgeshire Parkinson’s Incidence from GP to Neurologist (CamPaIGN) study is an observational, longitudinal study of incident PD patients in the county of Cambridgeshire, UK55,56." . _:2a572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational, longitudinal, population-representative incident cohort of people newly diagnosed with parkinsonism or Parkinson's disease in the county of Cambridgeshire, United Kingdom, between December 2000 and December 2002. Cases were referred through general practitioners, neurologists, geriatricians, Parkinson's disease specialist nurses and hospital discharge coding, and were followed from diagnosis by the University of Cambridge with clinical, neuropsychological and genetic assessments, to describe the natural history of Parkinson's disease."; "PMID:14691062", "PMID:23781007", "PMID:31965629", "PMID:38849413"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 142; "incident Parkinson's disease cases meeting diagnostic criteria, followed up (2002)"; "PMID:23781007"; rdfs:comment "Those meeting diagnostic criteria (n=142) were followed-up until 1 January 2012." . _:2a592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CamPaIGN"; . _:2a5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CamPaiGN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11705; , , ; "GCST90245878"; "A multicentre, prospective, observational cohort of patients presenting with acute non-atherosclerotic spontaneous coronary artery dissection (SCAD), run from the University of British Columbia and enrolled at cardiac centres in Canada and the United States since June 2014, whose precipitating stressors, predisposing conditions and core-laboratory-reviewed angiograms are recorded and who are followed for cardiovascular events, to establish the natural history of SCAD and the outcomes of its treatment. Its first phase, the Canadian SCAD Cohort Study (enrolment 2014 to 2018, three-year follow-up), was extended from December 2018 as the Canadian SCAD Study, with international enrolment, a genetic sub-study and follow-up of up to ten years."; 750; "CanSCAD", "CanSCAD Cohort Study", "CanSCAD Study", "Canadian SCAD Cohort Study", "Canadian SCAD Study", "Canadian Spontaneous Coronary Artery Dissection Cohort Study", "Canadian spontaneous coronary artery dissection study", "canSCAD"; ; rdfs:label "Canadian Spontaneous Coronary Artery Dissection Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11705 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11705; "spontaneous coronary artery dissection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30698711+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a multicentre, prospective, observational study of patients with non-atherosclerotic SCAD presenting acutely from 22 centres in North America." . _:2a5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7474092/fullTextXML"; rdfs:comment "Patients presenting with acute SCAD were prospectively enrolled from 22 sites throughout North America (20 sites in Canada and 2 in the United States)." . _:2a5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90245878"; "Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation."; "PMID:37248441", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10260398/supplementaryFiles"; rdfs:comment "The CanSCAD genetic substudy (N=502) included SCAD patients from the prospective Canadian SCAD Cohort Study and the Non-Atherosclerotic Coronary Artery Disease (NACAD) Study." . _:2a5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, prospective, observational cohort of patients presenting with acute non-atherosclerotic spontaneous coronary artery dissection (SCAD), run from the University of British Columbia and enrolled at cardiac centres in Canada and the United States since June 2014, whose precipitating stressors, predisposing conditions and core-laboratory-reviewed angiograms are recorded and who are followed for cardiovascular events, to establish the natural history of SCAD and the outcomes of its treatment. Its first phase, the Canadian SCAD Cohort Study (enrolment 2014 to 2018, three-year follow-up), was extended from December 2018 as the Canadian SCAD Study, with international enrolment, a genetic sub-study and follow-up of up to ten years."; "PMID:30698711", "PMID:32887874", "https://clinicaltrials.gov/api/v2/studies/NCT02188069", "https://clinicaltrials.gov/api/v2/studies/NCT04906356"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 750; "SCAD patients enrolled in the first phase (Canadian SCAD Cohort Study), 2018"; "PMID:30698711"; rdfs:comment "We prospectively enrolled 750 SCAD patients from June 2014 to June 2018." . _:2a602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CanSCAD"; . _:2a612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "canSCAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11713, _:genid-371333f489424440b12a13b9d98ced822608-genid11715; , ; "GCST90027158"; "A prospective cardiovascular population study of an age-stratified random sample of adults aged 20 years or older living in the Østerbro district and part of Nørrebro around Rigshospitalet in Copenhagen, Denmark, launched in 1975 with a first examination in 1976–1978 and re-examinations in 1981–1983, 1991–1994, 2001–2003 and 2011–2013, whose participants are followed through the Danish national registers. Its original purpose was the prevention of coronary heart disease and stroke; lung disease, dementia, ageing, genetics and other topics were added later."; "The acronym CCHS also denotes China Cardiovascular Health Study (COHO:0001579); this term is Copenhagen City Heart Study."@en; 14223; "CCHS", "Østerbroundersøgelsen"; ; rdfs:label "Copenhagen City Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11713 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11715 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11713; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4625209/fullTextXML"; rdfs:comment "The original purpose of the study was to focus on prevention of coronary heart disease and stroke." . _:2a632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11715; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4625209/fullTextXML"; rdfs:comment "The original purpose of the study was to focus on prevention of coronary heart disease and stroke." . _:2a642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005347/supplementaryFiles"; rdfs:comment "The Copenhagen City Heart Study (CCHS) CCHS is a prospective study of the Danish general population initiated in 1976-78 with follow-up examinations in 1981-83, 1991-94, 2001-03, and 2011-13." . _:2a652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027158"; "New insights into the genetic etiology of Alzheimer's disease and related dementias."; "PMID:35379992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005347/supplementaryFiles"; rdfs:comment "The Copenhagen City Heart Study (CCHS) CCHS is a prospective study of the Danish general population initiated in 1976-78 with follow-up examinations in 1981-83, 1991-94, 2001-03, and 2011-13." . _:2a662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cardiovascular population study of an age-stratified random sample of adults aged 20 years or older living in the Østerbro district and part of Nørrebro around Rigshospitalet in Copenhagen, Denmark, launched in 1975 with a first examination in 1976–1978 and re-examinations in 1981–1983, 1991–1994, 2001–2003 and 2011–2013, whose participants are followed through the Danish national registers. Its original purpose was the prevention of coronary heart disease and stroke; lung disease, dementia, ageing, genetics and other topics were added later."; "PMID:26779513", "PMID:35379992"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14223; "persons examined at the first examination (1976-1978)"; "PMID:26779513"; rdfs:comment "Of the original 14,223 examined at the first examination 3,092 (21.7%) have been examined in all four examinations, and of the 5,106 non-responders from the first survey in 1976–1978, 1,698 responded and were examined in one or more of the following surveys." . _:2a682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11722, _:genid-371333f489424440b12a13b9d98ced822608-genid11724; , ; ; "GCST90094651"; "A registry of individuals and families at high risk of cancer, established in 1992 at the Cancer Risk Clinic, a hospital-based preventive oncology clinic of the University of Chicago, United States, whose participants receive genetic testing and counselling at enrolment. It is also run as a hospital-based case-control study of the genetics of breast cancer in young patients, enrolling women with histologically confirmed breast cancer through the clinic, with early-onset cases and African Americans oversampled, and cancer-free controls matched on sex and age from patients of the same hospital, with questionnaires adopted from the Breast Cancer Family Registry and blood samples."; 5685; "CCPS", "University of Chicago Cancer Prone Registry", "University of Chicago Cancer Prone Study"; ; rdfs:label "Chicago Cancer Prone Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11722 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11724 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11722; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12818384/fullTextXML"; rdfs:comment "Briefly, CCPS is a local registry of diverse high‐risk families at a hospital‐based preventive oncology clinic that has registered 5685 participants as of September 2024 since its establishment in 1992." . _:2a6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11724; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12818384/fullTextXML"; rdfs:comment "Briefly, CCPS is a local registry of diverse high‐risk families at a hospital‐based preventive oncology clinic that has registered 5685 participants as of September 2024 since its establishment in 1992." . _:2a6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2a6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094651"; "Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis."; "PMID:34706928", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2a6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of individuals and families at high risk of cancer, established in 1992 at the Cancer Risk Clinic, a hospital-based preventive oncology clinic of the University of Chicago, United States, whose participants receive genetic testing and counselling at enrolment. It is also run as a hospital-based case-control study of the genetics of breast cancer in young patients, enrolling women with histologically confirmed breast cancer through the clinic, with early-onset cases and African Americans oversampled, and cancer-free controls matched on sex and age from patients of the same hospital, with questionnaires adopted from the Breast Cancer Family Registry and blood samples."; "PMID:20661439", "PMID:22792352", "PMID:41373161"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5685; "participants registered since 1992 (2024)"; "PMID:41373161"; rdfs:comment "Briefly, CCPS is a local registry of diverse high‐risk families at a hospital‐based preventive oncology clinic that has registered 5685 participants as of September 2024 since its establishment in 1992." . _:2a6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11731; , ; "GCST90897930"; "A multicentre observational cohort and database of children and adults with sickle cell disease receiving care at the National Heart, Lung, and Blood Institute's Comprehensive Sickle Cell Centers in the United States, run from March 2005 to September 2008 at nine of the centres and their satellite sites, which collected clinical data abstracted from medical records, yearly health and lifestyle interviews and quality-of-life questionnaires, and from 2007 blood and DNA samples for a genotype-phenotype repository, to describe the disease's complications and identify participants for future clinical trials."; 3640; "C-DATA", "C-Data", "C-data", "CSCC C-Data", "Collaborative Data Project", "Comprehensive Sickle Cell Centers Collaborative Data project"; ; rdfs:label "Comprehensive Sickle Cell Centers Collaborative Data Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11731; "sickle cell disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2911637/unicode"; rdfs:comment "Adult and pediatric patients with all forms of SCD at participating CSCC Centers and satellite sites were considered eligible for C-Data Project enrollment if seen within the last 24 months and were expected to return for care." . _:2a712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3630835/"; rdfs:comment "Pediatric patients with SCA and documented evaluation of cerebrovascular disease were recruited from multiple US institutions for several different clinical trials." . _:2a722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "The cohorts included: Cooperative Study of Sickle Cell Disease (CSSCD: n = 841), Multicenter Study of Hydroxyurea (MSH: n = 178), Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study (n = 73), Comprehensive Sickle Cell Centers Collaborative Data (C-data) project (n = 127), Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment (Walk-PHaSST) trial (n = 181), Duke University Outcome Modifying Genes study (n = 152), and Silent Infarct Transfusion (SIT) trial (SITT: n = 488)." . _:2a732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre observational cohort and database of children and adults with sickle cell disease receiving care at the National Heart, Lung, and Blood Institute's Comprehensive Sickle Cell Centers in the United States, run from March 2005 to September 2008 at nine of the centres and their satellite sites, which collected clinical data abstracted from medical records, yearly health and lifestyle interviews and quality-of-life questionnaires, and from 2007 blood and DNA samples for a genotype-phenotype repository, to describe the disease's complications and identify participants for future clinical trials."; "PMID:19902523", "PMID:20658620", "https://biolincc.nhlbi.nih.gov/studies/cscc_c_data/", "https://clinicaltrials.gov/api/v2/studies/NCT00528203", "https://clinicaltrials.gov/api/v2/studies/NCT00529061"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3640; "children and adults with sickle cell disease enrolled (actual enrolment in the registry record), 2008"; "https://clinicaltrials.gov/api/v2/studies/NCT00529061"; rdfs:comment "\"enrollmentInfo\":{\"count\":3640,\"type\":\"ACTUAL\"}" . _:2a752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C-DATA"; . _:2a762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C-Data"; . _:2a772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C-data"; . _:2a782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSCC C-Data"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11741, _:genid-371333f489424440b12a13b9d98ced822608-genid11743; , , ; "GCST90270122"; "A hospital-based registry cohort of the Cardiovascular Genome Center of Yonsei University College of Medicine, enrolling from November 2000 patients who visited the cardiology division of Severance Hospital in Seoul, South Korea, for chest symptoms, cardiovascular risk-factor control or a health check-up, with clinical data collected by trained nurses, blood samples for DNA and, where symptoms warranted, coronary angiography, for genetic research on coronary artery disease and other cardiovascular and metabolic conditions."; 8839; "CGC", "CGC cohort", "Cardiovascular Genome Center", "Cardiovascular Genome Center Registry", "Cardiovascular Genome Centre"; ; rdfs:label "Cardiovascular Genome Center cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11741 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11741; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10164599/fullTextXML"; rdfs:comment "All patients who visited the Division of Cardiology at a university hospital, for a health check-up or due to chest symptoms from January 2001 to August 2009 were included in the CGC cohort." . _:2a7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11743; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10164599/fullTextXML"; rdfs:comment "All patients who visited the Division of Cardiology at a university hospital, for a health check-up or due to chest symptoms from January 2001 to August 2009 were included in the CGC cohort." . _:2a7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10164599/fullTextXML"; rdfs:comment "We selected male participants from two cohorts: The Cardiovascular Genome Center (CGC) cohort and Cardiovascular and Metabolic Disease Etiology Research Center-High Risk (CMERC-HI) cohort at a university, Seoul, Korea." . _:2a7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270122"; "Genetic Variants Associated with Supernormal Coronary Arteries."; "PMID:35793981", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10164599/fullTextXML"; rdfs:comment "All patients who visited the Division of Cardiology at a university hospital, for a health check-up or due to chest symptoms from January 2001 to August 2009 were included in the CGC cohort." . _:2a7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based registry cohort of the Cardiovascular Genome Center of Yonsei University College of Medicine, enrolling from November 2000 patients who visited the cardiology division of Severance Hospital in Seoul, South Korea, for chest symptoms, cardiovascular risk-factor control or a health check-up, with clinical data collected by trained nurses, blood samples for DNA and, where symptoms warranted, coronary angiography, for genetic research on coronary artery disease and other cardiovascular and metabolic conditions."; "PMID:24142632", "PMID:27736948", "PMID:35352885", "PMID:35793981"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8839; "individuals in the CGC cohort screened for a genetic study"; "PMID:35793981"; rdfs:comment "Among 8839 individuals in the CGC cohort, 4425 males received coronary angiography; 7 individuals showing a study-feasible Framingham score but normal coronary arteries were enrolled as supernormal." . _:2a7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11750, _:genid-371333f489424440b12a13b9d98ced822608-genid11752; ; , , , , ; "GCST90451657"; "A three-year initiative of the US National Cancer Institute, begun in 2006, that ran multi-stage genome-wide association studies of prostate and breast cancer in case-control sets drawn from existing studies (for prostate cancer, men from the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, the American Cancer Society Cancer Prevention Study II, the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study and the French Prostate Case-Control Study; for breast cancer, postmenopausal women from the Nurses' Health Study, with replication in further cohorts), and shared its genotype data and results with the research community."; 1172; 1157; "CGEMS", "CGEMS collaboration", "Cancer Genetic Markers of Susceptibility project", "National Cancer Institute Cancer Genetic Markers of Susceptibility", "National Cancer Institute Cancer Genetic Markers of Susceptibility initiative"; ; rdfs:label "Cancer Genetic Markers of Susceptibility"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11750 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11752 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11750; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2291937/"; rdfs:comment "A new NCI initiative, Cancer Genetic Markers of Susceptibility (CGEMS), is a three-year study designed to identify common genetic variations associated with risk for prostate and breast cancer." . _:2a812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11752; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2291937/"; rdfs:comment "A new NCI initiative, Cancer Genetic Markers of Susceptibility (CGEMS), is a three-year study designed to identify common genetic variations associated with risk for prostate and breast cancer." . _:2a822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3493132/"; rdfs:comment "We initially genotyped 1183 cases of postmenopausal invasive breast cancer and 1185 individually-matched controls from the Nurses’ Health Study (NHS) cohort, using the Illumina HumanHap500 array, as part of the National Cancer Institute CGEMS (Cancer Genetic Markers of Susceptibility) Project." . _:2a832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3374121/fullTextXML"; rdfs:comment "The cohort studies were: the Prostate, Lung Colorectal and Ovarian Cancer Screening Trial (PLCO, subjects from continental USA) (Gohagan et al. 2000); the American Cancer Society Cancer Prevention Study II (CPS-II, from continental USA) (Calle et al. 2002) and the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (ATBC, from Finland) (1994)." . _:2a842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3374121/fullTextXML"; rdfs:comment "The case–control study was the French Prostate Case–Control Study (CeRePP, Centre de Recherche pour les Pathologies Prostatiques, from France) (Valeri et al. 2003)." . _:2a852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451657"; "Deciphering the genetics and mechanisms of predisposition to multiple myeloma."; "PMID:39103364", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-024-50932-7/MediaObjects/41467_2024_50932_MOESM4_ESM.xlsx"; rdfs:comment "Cancer Genetic Markers of Susceptibility" . _:2a862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A three-year initiative of the US National Cancer Institute, begun in 2006, that ran multi-stage genome-wide association studies of prostate and breast cancer in case-control sets drawn from existing studies (for prostate cancer, men from the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, the American Cancer Society Cancer Prevention Study II, the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study and the French Prostate Case-Control Study; for breast cancer, postmenopausal women from the Nurses' Health Study, with replication in further cohorts), and shared its genotype data and results with the research community."; "PMID:17529973", "PMID:22271044", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2291937/", "https://www.cancernetwork.com/view/cgems-id-genetic-risks-two-cancers"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1172; "cases and controls in the first (prostate cancer) genome-wide scan, 2007"; "PMID:17401363"; rdfs:comment "While conducting a genome-wide association study in the Cancer Genetic Markers of Susceptibility project with 550,000 SNPs in a nested case-control study (1,172 cases and 1,157 controls of European origin), we identified a new association at 8q24 with an independent effect on prostate cancer susceptibility." . _:2a882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1157; "cases and controls in the first (prostate cancer) genome-wide scan, 2007"; "PMID:17401363"; rdfs:comment "While conducting a genome-wide association study in the Cancer Genetic Markers of Susceptibility project with 550,000 SNPs in a nested case-control study (1,172 cases and 1,157 controls of European origin), we identified a new association at 8q24 with an independent effect on prostate cancer susceptibility." . _:2a892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGEMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11762; , ; "GCST90271928"; "A population-based study of people with cystic fibrosis and their parents in Canada, led from the Hospital for Sick Children in Toronto, which recruited patients without regard to genotype or lung function through specialised CF clinics across the country, first from 2003 to 2006 and then in a second phase, with clinical data from clinic records and DNA for genome-wide genotyping and sequencing, to identify genetic modifiers of cystic fibrosis lung disease and of complications such as meconium ileus, liver disease and CF-related diabetes."; 2441; "CGMS", "CGS", "Canadian CF Gene Modifier Study", "Canadian CF Modifier Study", "Canadian Consortium for Genetic Studies", "Canadian Cystic fibrosis Gene Modifier Study", "Canadian Gene Modifier Study"; ; rdfs:label "Canadian Cystic Fibrosis Gene Modifier Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11762 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11762; "cystic fibrosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4589222/fullTextXML"; rdfs:comment "The CGS patients were recruited from the Canadian population of CF patients." . _:2a8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2248329/"; rdfs:comment "CF patients and their family members were recruited from 37 specialized CF clinics across Canada (shown in Supplemental Table 5), during a period from 2003 to 2006, as participants in the Canadian CF Modifier Study." . _:2a8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90271928"; "Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients."; "PMID:36921087", "https://europepmc.org/api/getPdf?pmcid=PMC10595435"; rdfs:comment "CGS=Canadian CF Gene Modifier Study (population-based); FrGMS=French CF Gene Modifier Consortium (population-based); JHU=Johns Hopkins University (twin-siblings design); UNC=University of North Carolina (extremes of phenotype); UW=University of Washington (longitudinal study for effect of Pseudomonas aeruginosa acquisition on lung disease)." . _:2a8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of people with cystic fibrosis and their parents in Canada, led from the Hospital for Sick Children in Toronto, which recruited patients without regard to genotype or lung function through specialised CF clinics across the country, first from 2003 to 2006 and then in a second phase, with clinical data from clinic records and DNA for genome-wide genotyping and sequencing, to identify genetic modifiers of cystic fibrosis lung disease and of complications such as meconium ileus, liver disease and CF-related diabetes."; "PMID:18292811", "PMID:23670970", "PMID:26417704", "PMID:30807572", "PMID:31697830"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2441; "patients with CF recruited 2003-2006 (parents not included)"; "PMID:18292811"; rdfs:comment "The Canadian CF Modifier Study population consists of 2,441 patients diagnosed with CF between 1951 and 2006 and 3,092 parents." . _:2a8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGMS"; . _:2a902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11770; , , , , , ; ; "GCST90824165"; "A consortium of universities and academic medical centres established by the US National Institute of Allergy and Infectious Diseases from 2005 to 2012 and led from Duke University, to determine the host and virus factors associated with HIV transmission, infection and control and so advance HIV vaccine development. Its clinical studies enrolled participants at sites in Africa and the United States, and its Host Genetics Core assembled genome-wide genotyped samples of people with HIV-1 from existing cohorts, including the European and Australian cohorts of the Euro-CHAVI consortium and participants of the US Military HIV Natural History Study and the Multicenter AIDS Cohort Study."; 2554; "CHAVI", "NIAID Center for HIV/AIDS Vaccine Immunology"; ; rdfs:label "Center for HIV/AIDS Vaccine Immunology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11770 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11770; "HIV-1 infection"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4138272/unicode"; rdfs:comment "We analyzed PBMC values from CHAVI cohorts of acutely HIV-infected (n = 1125), chronically HIV-infected (n = 626) and HIV-negative (n = 297) participants and found that initial PBMC viabilities, yield, and processing time were equivalent (all p-values <0.001; data not shown) for all cohorts." . _:2a922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21160409+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study (GWAS) in a population of 1532 individuals from Malawi, a country with high prevalence of HIV-1 infection." . _:2a932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2791220/fullTextXML"; rdfs:comment "Patients have been included from two sources (Text S1): [1] Euro-CHAVI, a Consortium of 8 European and 1 Australian Cohorts/Studies; and [2] MACS, the Multicenter AIDS Cohort Study that enrolled homosexual and bisexual men in 4 US cities." . _:2a942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24910414+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Nine site-affiliated laboratories in Africa and the USA collected and processed PBMCs, and cryopreserved PBMC were shipped to CHAVI repositories in Africa and the USA for long-term storage." . _:2a952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90824165"; "Multiancestry Genome-Wide Association Study Identifies Variants in a Zinc Finger Gene Cluster as Novel Regulators of HIV Control."; "PMID:41640362" . _:2a962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of universities and academic medical centres established by the US National Institute of Allergy and Infectious Diseases from 2005 to 2012 and led from Duke University, to determine the host and virus factors associated with HIV transmission, infection and control and so advance HIV vaccine development. Its clinical studies enrolled participants at sites in Africa and the United States, and its Host Genetics Core assembled genome-wide genotyped samples of people with HIV-1 from existing cohorts, including the European and Australian cohorts of the Euro-CHAVI consortium and participants of the US Military HIV Natural History Study and the Multicenter AIDS Cohort Study."; "PMID:20041166", "PMID:20205591", "PMID:21160409", "PMID:23935489", "PMID:24910414"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2554; "HIV-1-infected individuals genotyped in the Host Genetics Core's 2009 GWAS of HIV control (Euro-CHAVI and MACS)"; "PMID:20041166"; rdfs:comment "A total of 2554 HIV-1 infected individuals of self-reported Caucasian ancestry were genotyped on Illumina whole-genome chips (Table S1)." . _:2a982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHAVI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11779; , , ; "GCST90837424"; "A hospital-based, dynamic, longitudinal prospective cohort of patients with keratoconus, established at Henan Eye Hospital in Zhengzhou, China, which since January 2019 has enrolled patients from a large geographical area, collecting questionnaire data on demographics, lifestyle, eye rubbing, medical, surgical and family history and visual function, eye and general examinations, biological specimens and data on patients' first-degree relatives, with follow-up at 3, 6 and 12 months and yearly thereafter, to study genes, environment and their interaction in keratoconus progression and its prevention."; 1114; "CKC", "Chinese Keratoconus Cohort", "Chinese keratoconus cohort study"; ; rdfs:label "Chinese Keratoconus Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11779 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11779; "keratoconus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38703249+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The CKC cohort is hospital-based and dynamic and was established in Zhengzhou, China; KC patients (n = 1114) from a large geographical area were enrolled from January 2019 to June 2023, with a mean age of 22.23 years (6‒57 years)." . _:2a9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114610/fullTextXML"; rdfs:comment "All subjects were from China and self-reported Chinese." . _:2a9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90837424"; "Association of Novel Loci With Keratoconus Susceptibility in a Chinese Genome-Wide Association Study."; "PMID:38767907", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11114610/fullTextXML"; rdfs:comment "A total of 958 patients with KC from the Chinese keratoconus (CKC) cohort study and 7186 controls were included in the current study." . _:2a9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based, dynamic, longitudinal prospective cohort of patients with keratoconus, established at Henan Eye Hospital in Zhengzhou, China, which since January 2019 has enrolled patients from a large geographical area, collecting questionnaire data on demographics, lifestyle, eye rubbing, medical, surgical and family history and visual function, eye and general examinations, biological specimens and data on patients' first-degree relatives, with follow-up at 3, 6 and 12 months and yearly thereafter, to study genes, environment and their interaction in keratoconus progression and its prevention."; "PMID:38703249", "PMID:39186261", "PMID:40642536"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2a9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1114; "keratoconus patients enrolled January 2019 to June 2023"; "PMID:38703249"; rdfs:comment "The CKC cohort is hospital-based and dynamic and was established in Zhengzhou, China; KC patients (n = 1114) from a large geographical area were enrolled from January 2019 to June 2023, with a mean age of 22.23 years (6‒57 years)." . _:2a9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CKC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11786; , , ; "GCST90134617"; "A multicentre prospective observational cohort of children with chronic kidney disease in the United States and Canada, funded since 2003 by the National Institute of Diabetes and Digestive and Kidney Diseases and coordinated from Children's Mercy Hospital in Kansas City and Johns Hopkins (later the Children's Hospital of Philadelphia), which since 2005 has enrolled children aged 6 months to 16 years at paediatric nephrology centres and later also young adults. Participants have annual visits with measured glomerular filtration rate, questionnaires on cognition, behaviour and quality of life, cardiovascular assessments and stored biosamples and DNA, to identify risk factors for the decline of kidney function and its effects on cardiovascular risk, neurocognitive function and behaviour, and growth."; "CKiD", "CKiD Study", "Chronic Kidney Disease in Children", "Chronic Kidney Disease in Children Prospective Cohort Study"; ; rdfs:label "Chronic Kidney Disease in Children Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11786 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2a9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11786; "chronic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9062328/fullTextXML"; rdfs:comment "The CKiD Study is an ongoing cohort of children, adolescents, and young adults with a diagnosis of CKD in the United States and Canada with participants enrolled between ages 0.5 and 16 years starting in 2005." . _:2aa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9062328/fullTextXML"; rdfs:comment "The CKiD Study is an ongoing cohort of children, adolescents, and young adults with a diagnosis of CKD in the United States and Canada with participants enrolled between ages 0.5 and 16 years starting in 2005." . _:2aa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134617"; "Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort."; "PMID:36623684", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36623684+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "140 African American children with chronic kidney disease from the Chronic Kidney Disease in Children (CKiD) cohort, including 32 cases with FSGS." . _:2aa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective observational cohort of children with chronic kidney disease in the United States and Canada, funded since 2003 by the National Institute of Diabetes and Digestive and Kidney Diseases and coordinated from Children's Mercy Hospital in Kansas City and Johns Hopkins (later the Children's Hospital of Philadelphia), which since 2005 has enrolled children aged 6 months to 16 years at paediatric nephrology centres and later also young adults. Participants have annual visits with measured glomerular filtration rate, questionnaires on cognition, behaviour and quality of life, cardiovascular assessments and stored biosamples and DNA, to identify risk factors for the decline of kidney function and its effects on cardiovascular risk, neurocognitive function and behaviour, and growth."; "PMID:17699320", "PMID:35518833", "https://clinicaltrials.gov/api/v2/studies/NCT00327860"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2aa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CKiD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11792, _:genid-371333f489424440b12a13b9d98ced822608-genid11794, _:genid-371333f489424440b12a13b9d98ced822608-genid11796; , ; "GCST90336598"; "A sample of adults aged 21–50 studied at the University of California, Los Angeles, by the Consortium for Neuropsychiatric Phenomics, one of the NIH Roadmap interdisciplinary research consortia of 2007–2012: mainly healthy White non-Hispanic or Hispanic adults recruited by community advertisement in the Los Angeles area, with smaller groups with schizophrenia, bipolar disorder or ADHD recruited through local clinics and online portals. Participants had diagnostic interviews, neurocognitive testing and blood sampling for genotyping, and a subset had structural, diffusion and functional MRI, to study memory and response-inhibition phenotypes dimensionally from genome to syndrome."; 1138; "CNP", "Consortium for Neuropsychiatric Phenomics"; ; rdfs:label "UCLA Consortium for Neuropsychiatric Phenomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11792 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11794 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11796 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2aa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11792; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5139672/fullTextXML"; rdfs:comment "The CNP sample additionally included smaller groups of people who had diagnoses of schizophrenia, bipolar disorder, and attention-deficit/hyperactivity disorder (following DSM-IV), to determine where these individuals’ scores would fall with respect to the distributions observed in healthy individuals." . _:2aa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11794; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5139672/fullTextXML"; rdfs:comment "The CNP sample additionally included smaller groups of people who had diagnoses of schizophrenia, bipolar disorder, and attention-deficit/hyperactivity disorder (following DSM-IV), to determine where these individuals’ scores would fall with respect to the distributions observed in healthy individuals." . _:2aa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11796; "attention-deficit/hyperactivity disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5139672/fullTextXML"; rdfs:comment "The CNP sample additionally included smaller groups of people who had diagnoses of schizophrenia, bipolar disorder, and attention-deficit/hyperactivity disorder (following DSM-IV), to determine where these individuals’ scores would fall with respect to the distributions observed in healthy individuals." . _:2aa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618088/fullTextXML"; rdfs:comment "Healthy control participants, ages 21–50, were recruited by community advertisements in the Los Angeles area and were “White, not Hispanic or Latino;” or “Hispanic or Latino, of any racial group.” The primary language was either English or Spanish (N = 1138; 731 White, 407 Hispanic, of any race)." . _:2aa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90336598"; "Polygenic contributions to performance on the Balloon Analogue Risk Task."; "PMID:37582857", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618088/fullTextXML"; rdfs:comment "One was the Consortium for Neuropsychiatric Phenomics (CNP), a study performed at the Semel Institute of the University of California Los Angeles (UCLA) to examine underlying genetic and neural factors and their links to three neuropsychiatric illnesses: schizophrenia, bipolar disorder, and attention-deficit hyperactivity disorder (ADHD)." . _:2aa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of adults aged 21–50 studied at the University of California, Los Angeles, by the Consortium for Neuropsychiatric Phenomics, one of the NIH Roadmap interdisciplinary research consortia of 2007–2012: mainly healthy White non-Hispanic or Hispanic adults recruited by community advertisement in the Los Angeles area, with smaller groups with schizophrenia, bipolar disorder or ADHD recruited through local clinics and online portals. Participants had diagnostic interviews, neurocognitive testing and blood sampling for genotyping, and a subset had structural, diffusion and functional MRI, to study memory and response-inhibition phenotypes dimensionally from genome to syndrome."; "PMID:27922632", "PMID:37582857"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2aaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1138; "participants (healthy adults and psychiatric patients) with DNA and task data"; "PMID:37582857"; rdfs:comment "One sample (n = 1138) comprised healthy participants and some psychiatric patients (53 schizophrenia, 42 bipolar disorder, 47 ADHD); the other (n = 911) excluded for recent treatment of various psychiatric disorders but not ADHD." . _:2aab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11803, _:genid-371333f489424440b12a13b9d98ced822608-genid11805; , , ; "GCST90134438"; "A longitudinal observational cohort, begun in 2012 and based at Kangwon National University Hospital, of residents of six districts with cement plants in Gangwon (Kangwon) and Chungbuk provinces, South Korea, comprising people with chronic obstructive pulmonary disease or airflow limitation and volunteers with normal spirometry, examined with questionnaires, spirometry, chest CT and blood and urine sampling, to study the clinical course and outcomes of COPD in people exposed to cement dust."; 504; "CODA", "COPD in Dusty Areas", "COPD in dusty areas"; ; rdfs:label "Chronic Obstructive Pulmonary Disease in Dusty Areas"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11803 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11805 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2aac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11803; "cement dust from cement plants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6778737/fullTextXML"; rdfs:comment "The COPD in dusty areas (CODA) cohort study collected epidemiological and clinical data from participants living near cement plants where cement dust affected them16." . _:2aad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11805; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5958470/fullTextXML"; rdfs:comment "The cohort was composed of subjects with airflow limitation and healthy volunteers who agreed to undergo examination." . _:2aae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29117798+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To explore the associations of serum and radiological biomarkers with the presence of COPD in never-smokers, we conducted a cross-sectional patient cohort study composed of never-smokers from the COPD in Dusty Areas (CODA) cohort, consisting of subjects living in dusty areas near cement plants in South Korea." . _:2aaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134438"; "Genome-Wide Association Study of Airway Wall Thickening in a Korean Chronic Obstructive Pulmonary Disease Cohort."; "PMID:35886039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9318537/fullTextXML"; rdfs:comment "Study participants were chosen from two cohorts: 500 subjects (324 COPD patients and 176 controls) from the COPD in dusty areas (CODA) cohort [8] and 474 subjects (235 COPD patients and 239 matched controls) from the KoGES-Ansan cohort [9,10]." . _:2ab02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational cohort, begun in 2012 and based at Kangwon National University Hospital, of residents of six districts with cement plants in Gangwon (Kangwon) and Chungbuk provinces, South Korea, comprising people with chronic obstructive pulmonary disease or airflow limitation and volunteers with normal spirometry, examined with questionnaires, spirometry, chest CT and blood and urine sampling, to study the clinical course and outcomes of COPD in people exposed to cement dust."; "PMID:29117798", "PMID:29750028", "PMID:31172706", "PMID:41136451", "PMID:41436567"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ab12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 504; "participants enrolled for baseline examinations 2012-2017"; "PMID:31172706"; rdfs:comment "Overall, 504 participants (362 males and 142 females) were enrolled between 2012 and 2017 for baseline examinations." . _:2ab22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CODA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11812; , , ; "GCST90672045"; "A prospective multicentre cohort of lung transplant candidates enrolled before transplantation at eleven French lung transplant centres and the Erasme Hospital in Brussels between September 2009 and the end of 2018, coordinated by Nantes University Hospital, with clinical data and biological samples from recipients, and samples from their organ donors, followed every six months after transplantation (samples for up to five years, clinical data for up to ten), set up to discover early predictors of chronic lung allograft dysfunction."; 1874; "COLT", "COhort of Lung Transplantation", "Cohort for Lung Transplantation", "Cohort of Lung Transplantation"; ; rdfs:label "Cohort in Lung Transplantation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11812 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ab32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11812; "chronic lung allograft dysfunction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10033762/fullTextXML"; rdfs:comment "Prediction of CLAD was the main objective of the COLT and SysCLAD cohorts for which we report here the most significant results obtained so far." . _:2ab42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11893754/fullTextXML"; rdfs:comment "COLT was a prospective study, which included patients from twelve clinical centers between September 2009 to December 2018: CHU Nantes, Hospices Civils de Lyon, Assistance Publique-Hôpitaux de Marseille, Hôpital Foch (Paris), Hôpital Européen Georges Pompidou (Paris), CHU Grenoble, CHRU Strasbourg, CHU Bordeaux, Hôpital Bichat (Paris), Hôpital Marie Lannelongue (Paris area) and CHU Toulouse from France, as well as the Erasme Hospital (Brussels, Belgium)." . _:2ab52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90672045"; "Genome-wide association study reveals two novel genetic loci associated with chronic lung allograft dysfunction."; "PMID:41864285", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41864285+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped 392 donor-recipient pairs from the multicentric Cohort in Lung Transplantation." . _:2ab62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre cohort of lung transplant candidates enrolled before transplantation at eleven French lung transplant centres and the Erasme Hospital in Brussels between September 2009 and the end of 2018, coordinated by Nantes University Hospital, with clinical data and biological samples from recipients, and samples from their organ donors, followed every six months after transplantation (samples for up to five years, clinical data for up to ten), set up to discover early predictors of chronic lung allograft dysfunction."; "PMID:36968829", "PMID:39164465"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ab72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1874; "lung transplant candidates included (before transplantation), 2009-2019 (2021)"; "PMID:36968829"; rdfs:comment "By February 2021, COLT had included 1874 patients and among them, 1,618 have been transplanted; of these, 1,106 (68.4%) could be followed up over 3 years, 905 (55.9%) over 5 years, and 117 (7.2%) over 10 years." . _:2ab82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COLT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11819; , ; "GCST90897930"; "A multicentre prospective study of the natural history of sickle cell disease, initiated in 1977, that enrolled patients with sickle cell disease of all ages, from newborns to adults and from mild to hospital-based cases, at 23 centres across the United States from 1978 (patients older than six months until 1981, infants until 1988), and followed them with standardised examinations and records of acute and chronic complications and organ damage, later phases following the infant cohort and adult participants until 1998, to identify the factors contributing to the morbidity and mortality of the disease."; 4085; "CSSCD"; ; rdfs:label "Cooperative Study of Sickle Cell Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11819 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ab92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11819; "sickle cell disease"; "https://biolincc.nhlbi.nih.gov/studies/csscd/"; rdfs:comment "The Cooperative Study of Sickle Cell Disease was initiated in 1977 to determine the natural history of sickle cell disease (SCD) from birth to death in order to identify those factors contributing to the morbidity and mortality of the disease." . _:2aba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://biolincc.nhlbi.nih.gov/studies/csscd/"; rdfs:comment "A total of 4,085 participants, ranging in age from newborns to adults, were enrolled in Phase 1 from 23 centers across the US." . _:2abb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "Similarly, variants within the genomic region of FLT1 were observed in the Cooperative Study of Sickle Cell Disease (CSSCD) cohort at P = 6.9e-03 (rs61763174, intronic variant, β = −0.24, MAF = 0.06)24, and in the Silent Cerebral Infarct Transfusion Trial (SITT) cohort at P = 2e-04 (rs9578046, 94 kb upstream, β = 0.14, MAF = 0.12)25 (Supplementary Data 2)." . _:2abc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective study of the natural history of sickle cell disease, initiated in 1977, that enrolled patients with sickle cell disease of all ages, from newborns to adults and from mild to hospital-based cases, at 23 centres across the United States from 1978 (patients older than six months until 1981, infants until 1988), and followed them with standardised examinations and records of acute and chronic complications and organ damage, later phases following the infant cohort and adult participants until 1998, to identify the factors contributing to the morbidity and mortality of the disease."; "PMID:36138487", "PMID:7114401", "https://biolincc.nhlbi.nih.gov/studies/csscd/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2abd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4085; "participants of all ages enrolled in Phase 1 (1978-1988)"; "https://biolincc.nhlbi.nih.gov/studies/csscd/"; rdfs:comment "A total of 4,085 participants, ranging in age from newborns to adults, were enrolled in Phase 1 from 23 centers across the US." . _:2abe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSSCD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11826; , ; "GCST90093122"; "A single-site, multiethnic, population-based probability sample of residents of Dallas County, Texas, aged 18 to 65, weighted to be about half African American and run by the University of Texas Southwestern Medical Center, surveyed and examined in 2000–2002 (DHS-1) and re-examined in 2007–2009 together with spouses and other new participants (DHS-2), designed to produce unbiased estimates of ethnic differences in cardiovascular health and to support research on their biological and social mechanisms using genetics, imaging, and clinical and social-science methods."; "The acronym DHS also denotes Dortmund Health Study (COHO:0000054), Diabetes Heart Study (COHO:0000460) and deCODE Health Study (COHO:0000468); this term is Dallas Heart Study."@en; 6101; "DHS", "DaHS"; ; rdfs:label "Dallas Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11826 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2abf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11826; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15194016+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Thus, the Dallas Heart Study provides a phenotypically well-characterized probability sample for multidisciplinary research that will be used to improve the mechanistic understanding and prevention of cardiovascular disease, especially in black Americans." . _:2ac02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8118582/fullTextXML"; rdfs:comment "Plasma samples were obtained from participants of the Dallas Heart Study (DHS), a multiracial/multiethnic, population-based probability sample (n = 3557) of Dallas County residents that was collected between 2000 and 2002 (DHS-1) (35)." . _:2ac12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90093122"; "Genetic and Metabolic Determinants of Plasma Levels of ANGPTL8."; "PMID:33619548", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33619548+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied a population-based sample of Dallas County, comprising individuals in the Dallas Heart Study (DHS-1, n = 3538; DHS-2, n = 3283), including 2131 individuals with repeated measurements 7 to 9 years apart (age 18-85 years; >55% female; 52% Black; 29% White; 17% Hispanic; and 2% other)." . _:2ac22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-site, multiethnic, population-based probability sample of residents of Dallas County, Texas, aged 18 to 65, weighted to be about half African American and run by the University of Texas Southwestern Medical Center, surveyed and examined in 2000–2002 (DHS-1) and re-examined in 2007–2009 together with spouses and other new participants (DHS-2), designed to produce unbiased estimates of ethnic differences in cardiovascular health and to support research on their biological and social mechanisms using genetics, imaging, and clinical and social-science methods."; "PMID:15194016", "PMID:24531328", "PMID:33619548"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ac32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6101; "DHS-1 participants with completed interviews (survey phase), 2000-2002"; "PMID:15194016"; rdfs:comment "Completed interviews were obtained for 6,101 subjects (54% black), phlebotomy visits for 3,398 (52% black), and clinic visits for 2,971 (50% black)." . _:2ac42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHS"; . _:2ac52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DaHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11834; , ; "GCST90133383"; "A nationwide, population-based cohort of long-term testicular cancer survivors treated in Denmark in 1984–2007, identified in the Danish Testicular Cancer (DaTeCa) clinical database and surveyed by questionnaire on late effects in 2014–2016 by the Department of Oncology at Rigshospitalet, Copenhagen University Hospital, with linked hospital, pathology and national registry data and a biobank of blood and sputum samples, set up to analyse late effects of treatment and inform future follow-up programmes."; 2572; "DaTeCa", "DaTeCa-LATE", "DaTeCa-Late", "Danish Testicular Cancer (DaTeCa)-Late"; ; rdfs:label "Danish Testicular Cancer Late Treatment Effects Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11834 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ac62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11834; "testicular cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29515973+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort was set up in order to analyze late effects in long-term testicular cancer survivors (TCS) and to contribute to the design of future follow-up programs addressing and potentially preventing late effects." . _:2ac72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10417151/fullTextXML"; rdfs:comment "Long-term TCS were identified in the DaTeCa-Late cohort [13] with patients initially treated for testicular cancer in Denmark from 1984 to 2007." . _:2ac82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90133383"; "Predicting Hearing Loss in Testicular Cancer Patients after Cisplatin-Based Chemotherapy."; "PMID:37568739", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10417151/fullTextXML"; rdfs:comment "Long-term TCS were identified in the DaTeCa-Late cohort [13] with patients initially treated for testicular cancer in Denmark from 1984 to 2007." . _:2ac92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide, population-based cohort of long-term testicular cancer survivors treated in Denmark in 1984–2007, identified in the Danish Testicular Cancer (DaTeCa) clinical database and surveyed by questionnaire on late effects in 2014–2016 by the Department of Oncology at Rigshospitalet, Copenhagen University Hospital, with linked hospital, pathology and national registry data and a biobank of blood and sputum samples, set up to analyse late effects of treatment and inform future follow-up programmes."; "PMID:29515973", "PMID:37568739"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2aca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2572; "testicular cancer survivors who returned the questionnaire, 2014-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5826343/fullTextXML"; rdfs:comment "By December 31, 2016, a total of 2,572 (60%) of questionnaires distributed was filled in and returned, and this number of TCS make up the DaTeCa-LATE study population." . _:2acb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DaTeCa"; . _:2acc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DaTeCa-LATE"; . _:2acd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DaTeCa-Late"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11843; , , ; "GCST90328131"; "A population-based birth cohort run by the University of Cape Town in the Drakenstein area of Paarl, a poor peri-urban community 60 km from Cape Town, South Africa, which enrolled pregnant women at 20–28 weeks' gestation at two primary health clinics (TC Newman and Mbekweni) between March 2012 and March 2015 and follows the mother–child pairs from pregnancy until the children are at least five years old, to investigate early-life determinants of child health, first among them early lower respiratory tract infection, through environmental, infectious, nutritional, genetic, psychosocial, maternal and immunological measures."; 1137; "DCHS"; ; rdfs:label "Drakenstein Child Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11843 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ace2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11843; "lower respiratory tract infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5107608/fullTextXML"; rdfs:comment "We describe a unique multidisciplinary South African birth cohort, the Drakenstein Child Health Study (DCHS), to investigate the incidence, risk factors, aetiology and long-term impact of early lower respiratory tract infection (LRTI) on child health." . _:2acf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5107608/fullTextXML"; rdfs:comment "The DCHS is a population-based birth cohort study in the Drakenstein area in Paarl, a peri-urban area, 60 km outside Cape Town, South Africa." . _:2ad02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90328131"; "Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference."; "PMID:38177345", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10864182/fullTextXML"; rdfs:comment "We had access to individual-level data for Army STARRS, UKB, Women’s Health Initiative (WHI), Intern Health Study (IHS), GERA, Jackson Heart Study (JHS), Drakenstein Child Health Study and the Detroit Neighborhood Health Study." . _:2ad12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based birth cohort run by the University of Cape Town in the Drakenstein area of Paarl, a poor peri-urban community 60 km from Cape Town, South Africa, which enrolled pregnant women at 20–28 weeks' gestation at two primary health clinics (TC Newman and Mbekweni) between March 2012 and March 2015 and follows the mother–child pairs from pregnancy until the children are at least five years old, to investigate early-life determinants of child health, first among them early lower respiratory tract infection, through environmental, infectious, nutritional, genetic, psychosocial, maternal and immunological measures."; "PMID:25228292", "PMID:38177345"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ad22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1137; "pregnant women enrolled who gave birth (mothers; 1143 live-born children)"; "PMID:31751344"; rdfs:comment "Over 3 years, 1137 women (median age 25.8 years; 21% HIV-infected) gave birth to 1143 live babies." . _:2ad32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11850; , ; "GCST90103973"; "A sub-study of Heart SCORE (Heart Strategies Concentrating on Risk Evaluation), a community-based cohort begun in 2003 of White and African American adults aged 45–75 in the greater Pittsburgh area, Pennsylvania, set up to investigate racial disparities in cardiovascular disease, in which a subgroup of participants had extended dental and periodontal examinations following the COHRA1 protocols and gave blood or saliva for DNA in 2007–2010, run by the University of Pittsburgh."; 552; "Dental SCORE", "Pittsburgh Dental SCORE"; ; rdfs:label "Dental Strategies Concentrating on Risk Evaluation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11850 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ad42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11850; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "The fourth cohort (Dental SCORE, n = 548) is a subset of a larger project, Heart SCORE, which is an ongoing cardiovascular disease study of 2,000 middle aged White and African Americans in the Pittsburgh region of Pennsylvania [17]." . _:2ad52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "The fourth cohort (Dental SCORE, n = 548) is a subset of a larger project, Heart SCORE, which is an ongoing cardiovascular disease study of 2,000 middle aged White and African Americans in the Pittsburgh region of Pennsylvania [17]." . _:2ad62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103973"; "Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts."; "PMID:35172313", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9378791/fullTextXML"; rdfs:comment "The fourth cohort (Dental SCORE, n = 548) is a subset of a larger project, Heart SCORE, which is an ongoing cardiovascular disease study of 2,000 middle aged White and African Americans in the Pittsburgh region of Pennsylvania [17]." . _:2ad72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-study of Heart SCORE (Heart Strategies Concentrating on Risk Evaluation), a community-based cohort begun in 2003 of White and African American adults aged 45–75 in the greater Pittsburgh area, Pennsylvania, set up to investigate racial disparities in cardiovascular disease, in which a subgroup of participants had extended dental and periodontal examinations following the COHRA1 protocols and gave blood or saliva for DNA in 2007–2010, run by the University of Pittsburgh."; "PMID:35172313", "PMID:41006734"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ad82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 552; "Heart SCORE participants given dental assessments, 2007-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12475168/fullTextXML"; rdfs:comment "Dental assessments and related data collection were carried out between 2007 and 2010 on a subgroup of 552 participants, known as the Dental Strategies Concentrating on Risk Evaluation (Dental SCORE) study." . _:2ad92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dental SCORE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11857; , ; , ; "GCST90132184"; "A French case–control sample of people of European ancestry assembled for a genome-wide association study of type 2 diabetes: people with type 2 diabetes, a family history of diabetes in first-degree relatives and a BMI below 30, recruited at the CNRS UMR8090 unit in Lille and the Endocrinology-Diabetology Department of the Corbeil-Essonnes Hospital, and normoglycaemic controls drawn mostly from the D.E.S.I.R. cohort of volunteers attending French health examination centres."; 661; 614; "DGDG"; ; rdfs:label "Diabetes Gene Discovery Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11857 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ada2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11857; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; rdfs:comment "Stage 1: Inclusion criteria for cases were (i) T2DM according to 1997 American Diabetes Association (ADA) criteria1 ; (ii) family history of diabetes in first degree relatives; (iii) BMI < 30 kg/m²." . _:2adb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3266400/fullTextXML"; rdfs:comment "However, any overlapping samples from the Diabetes Gene Discovery Group (DGDG) study (French samples) were excluded." . _:2adc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132184"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "Diabetes Gene Discovery Group (DGDG) was supported by Genome Canada, Génome Québec, the Canada Foundation for Innovation, the French Government (“Agence Nationale de la Recherche”), the French Region of \"Nord Pas De Calais\" (\"Contrat de Projets État- Région\"), and the charities: “Association Française des Diabétiques”, “Programme National de Recherche sur le Diabète” and “Association de Langue Française pour l'Etude du Diabète et des Maladies Métaboliques”." . _:2add2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French case–control sample of people of European ancestry assembled for a genome-wide association study of type 2 diabetes: people with type 2 diabetes, a family history of diabetes in first-degree relatives and a BMI below 30, recruited at the CNRS UMR8090 unit in Lille and the Endocrinology-Diabetology Department of the Corbeil-Essonnes Hospital, and normoglycaemic controls drawn mostly from the D.E.S.I.R. cohort of volunteers attending French health examination centres."; "PMID:17293876", "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ade2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 661; "stage 1 GWAS cases and controls genotyped on both platforms (analysed sample), 2007"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; rdfs:comment "A total of 661 cases and 614 controls were successful in both Stage 1 platforms." . _:2adf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 614; "stage 1 GWAS cases and controls genotyped on both platforms (analysed sample), 2007"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; rdfs:comment "A total of 661 cases and 614 controls were successful in both Stage 1 platforms." . _:2ae02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DGDG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11865; , ; "GCST90399575"; "A diverse cohort of adults with type 2 diabetes who are members of the Henry Ford Health System with pharmacy-covered health insurance and live in southeast Michigan and the Detroit metropolitan area, invited on the basis of two or more recorded diagnoses of type 2 diabetes and an HbA1c of at least 6.5%, who at enrolment completed a research survey, clinical examination and specimen collection, and whose genome-wide genotypes are linked to longitudinal electronic records of laboratory results and medication fills to study the genetics of response to diabetes drugs."; 2158; "DIAMOND"; ; rdfs:label "Diabetes Multi-omic Investigation of Drug Response"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11865 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ae12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11865; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37639712+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients in the discovery set were adult, African American participants from the Diabetes Multi-omic Investigation of Drug Response (DIAMOND), a cohort study of patients with T2D from a health system serving southeast Michigan." . _:2ae22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37639712+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients in the discovery set were adult, African American participants from the Diabetes Multi-omic Investigation of Drug Response (DIAMOND), a cohort study of patients with T2D from a health system serving southeast Michigan." . _:2ae32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90399575"; "Genome-Wide Association Study Identifies Pharmacogenomic Variants Associated With Metformin Glycemic Response in African American Patients With Type 2 Diabetes."; "PMID:37639712", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37639712+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients in the discovery set were adult, African American participants from the Diabetes Multi-omic Investigation of Drug Response (DIAMOND), a cohort study of patients with T2D from a health system serving southeast Michigan." . _:2ae42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A diverse cohort of adults with type 2 diabetes who are members of the Henry Ford Health System with pharmacy-covered health insurance and live in southeast Michigan and the Detroit metropolitan area, invited on the basis of two or more recorded diagnoses of type 2 diabetes and an HbA1c of at least 6.5%, who at enrolment completed a research survey, clinical examination and specimen collection, and whose genome-wide genotypes are linked to longitudinal electronic records of laboratory results and medication fills to study the genetics of response to diabetes drugs."; "PMID:37639712"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ae52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2158; "DIAMOND participants genotyped (not necessarily all enrolled)"; "https://europepmc.org/api/getPdf?pmcid=PMC10834390"; rdfs:comment "A total of 2,158 DIAMOND participants were genotyped;" . _:2ae62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIAMOND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11872, _:genid-371333f489424440b12a13b9d98ced822608-genid11874; , ; "GCST90328131"; "A population-based prospective cohort of adults aged 18 or older living in the city of Detroit, Michigan, most of them African American, drawn from a random probability sample of the city's households and interviewed by telephone in annual waves from 2008 to 2013, with blood specimens collected from a subset, to study how biological variation, stressful and traumatic experiences and environmental factors contribute to post-traumatic stress disorder, depression and other psychopathology."; 1547; "DNHS", "The Detroit Neighborhood Health Study"; ; rdfs:label "Detroit Neighborhood Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11872 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11874 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ae72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11872; "psychopathology"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12975512/fullTextXML"; rdfs:comment "The primary objective of the DNHS was to examine how biological variation, stressful and traumatic life experiences, and environmental factors contribute to the prediction of psychopathology and behavior." . _:2ae82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11874; "post-traumatic stress disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12975512/fullTextXML"; rdfs:comment "The primary objective of the DNHS was to examine how biological variation, stressful and traumatic life experiences, and environmental factors contribute to the prediction of psychopathology and behavior." . _:2ae92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12975512/fullTextXML"; rdfs:comment "In this investigation, we utilized data from the DNHS, a prospective population-based longitudinal cohort consisting of individuals residing in Detroit, Michigan" . _:2aea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90328131"; "Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference."; "PMID:38177345", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10864182/supplementaryFiles"; rdfs:comment "A total of 58 cases, which were defined at the baseline visit, and 436 controls of African ancestry were included in our MD GWAS for the DNHS cohort." . _:2aeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of adults aged 18 or older living in the city of Detroit, Michigan, most of them African American, drawn from a random probability sample of the city's households and interviewed by telephone in annual waves from 2008 to 2013, with blood specimens collected from a subset, to study how biological variation, stressful and traumatic experiences and environmental factors contribute to post-traumatic stress disorder, depression and other psychopathology."; "PMID:22745713", "PMID:38177345", "PMID:41821625"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2aec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1547; "adults recruited at baseline (wave 1)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3383758/fullTextXML"; rdfs:comment "The Detroit Neighborhood Health Study (DNHS) recruited 1,547 adults aged 18 years or older at baseline from the city of Detroit." . _:2aed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11881; , , , , , , , , ; , , , , , , , , , ; "GCST90454186"; "An international consortium of population- and hospital-based endometrial cancer studies in Europe, North America and Australia, whose cases of European ancestry were genotyped on the iCOGS and OncoArray arrays and compared with country-matched controls, mainly from the Breast Cancer Association Consortium, in genome-wide association studies of endometrial cancer risk."; 12906; 108979; "ECAC"; ; rdfs:label "Endometrial Cancer Association Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11881 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2aee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11881; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/fullTextXML"; rdfs:comment "For the iCOGS genotyping stage, 4,330 women with a confirmed diagnosis of endometrial cancer and European ancestry were recruited via 11 studies in Western Europe, North America and Australia, collectively called the Endometrial Cancer Association Consortium (ECAC)." . _:2aef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "606 ANECS samples all of endometrioid-only histology were used for the original endometrial cancer case-control GWAS and a further 538 were genotyped using iCOGS for the first additional genotyping phase." . _:2af02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "We conducted replication analysis of the 15 loci detected in the discovery GWAS in two separate cohorts (Belgian and German), previously used within the collaboration of ECAC [5]. Replication in the Belgian population included 528 cases from the Leuven Endometrial Cancer Study (LES) and 1,266 controls from blood donors of the Leuven Multidisciplinary Breast Centre Study (LMBC). Replication analysis in the German population included 221 cases from the Bavarian Endometrial Cancer Study (BECS) and 251 healthy controls aged 55 years and older from the Bavarian Breast Cancer Cases and Controls (BBCC)." . _:2af12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "| 9 | BECS/HJECS | Bavarian Endometrial Cancer Study/Hannover-Jena Endometrial Cancer Study | Germany; hospital-based cases, population-based cases | | Illumina Infinium iSelect | 137 | 112" . _:2af22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "| 8 | LES | Leuven Endometrial Cancer Study | Belgium; hospital based cases | | Illumina Infinium iSelect | 321 | 219" . _:2af32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-018-05427-7/MediaObjects/41467_2018_5427_MOESM2_ESM.pdf"; rdfs:comment "The sampling frame for the US studies WHI and E2C2 is not expected to overlap with the Mayo study, which provided a relatively small number of cases to ECAC." . _:2af42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "| 10 | MoMaTEC | Molecular Markers in Treatment of Endometrial Cancer | Norway; population based cases | Norway; female blood donors | Illumina Infinium iSelect | 599 | 505" . _:2af52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "| | NECS | Newcastle Endometrial Cancer Study | Australia; hospital-based cases | | Illumina Infinium iSelect | 165 | 116" . _:2af62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "| 6 | NSECG | National Study of Endometrial Cancer Genetics | England; population based cases | | Illumina Infinium iSelect | 965 | 839" . _:2af72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "| | RENDOCAS | Registry of Endometrial Cancer in Sweden | Sweden; hospital based cases | | Illumina Infinium iSelect | 233 | 205" . _:2af82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/fullTextXML"; rdfs:comment "For the iCOGS genotyping stage, 4,330 women with a confirmed diagnosis of endometrial cancer and European ancestry were recruited via 11 studies in Western Europe, North America and Australia, collectively called the Endometrial Cancer Association Consortium (ECAC)." . _:2af92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "Belgium; hospital based cases" . _:2afa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "Germany; hospital-based cases, population-based cases" . _:2afb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "Norway; population based cases" . _:2afc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "this population based case-control study was conducted among Swedish women aged 50-74 years, who were residing in Sweden between January 1st 1994 and December 31st 1995." . _:2afd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "National Study of the Genetics of Endometrial Cancer (NSECG) cases were identified from collaborating clinicians throughout the UK from 2008 to 2013, taking care not to recruit from centres involved in SEARCH." . _:2afe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/supplementaryFiles"; rdfs:comment "USA; Clinic based cases" . _:2aff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454186"; "GWAS meta-analysis identifies five susceptibility loci for endometrial cancer."; "PMID:40633141", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40633141+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Building on genome-wide association studies (GWASs) by the Endometrial Cancer Association Consortium, we conducted a GWAS meta-analysis of 17,278 endometrial cancer cases and 289,180 controls, incorporating biobank samples from the UK, Finland, Estonia and Japan." . _:2b002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of population- and hospital-based endometrial cancer studies in Europe, North America and Australia, whose cases of European ancestry were genotyped on the iCOGS and OncoArray arrays and compared with country-matched controls, mainly from the Breast Cancer Association Consortium, in genome-wide association studies of endometrial cancer risk."; "PMID:27135401", "PMID:30093612", "PMID:40633141"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12906; "cases and controls in the 2018 ECAC-led endometrial cancer GWAS meta-analysis"; "PMID:30093612"; rdfs:comment "Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer." . _:2b022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 108979; "cases and controls in the 2018 ECAC-led endometrial cancer GWAS meta-analysis"; "PMID:30093612"; rdfs:comment "Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer." . _:2b032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECAC"; . a owl:NamedIndividual, ; , , , ; "GCST90726611"; "A European family study of longevity that recruited people aged 90 or older, many of them centenarians, in Southern Denmark, Languedoc-Roussillon in France and Calabria in Italy, together with one of their children and, in a cousin-pair design, a child of a sibling who was or was not also long-lived, to investigate genetic and environmental factors in longevity and healthy ageing."; 598; "ECHA", "ECHA study", "European Challenge for Healthy Aging project", "European Challenge for Healthy Aging study"; ; rdfs:label "European Challenge for Healthy Aging"@en . _:2b042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17989723+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Population pools of 1.6, 2.3 and 2.0 million inhabitants were screened, respectively, in Denmark, France and Italy to identify families matching the design requirements." . _:2b052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726611"; "Genetic associations with longevity in a Calabrian cohort: an exploratory genome-wide study."; "PMID:42176242", "https://link.springer.com/article/10.1007/s11357-026-02334-4"; rdfs:comment "The oldest subjects (90-plus individuals) were enrolled in two European projects investigating genetic and environmental factors associated with aging: the European Challenge for Healthy Aging (ECHA) project [24] and the GEnetics of Healthy Ageing (GEHA) project [25]." . _:2b062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European family study of longevity that recruited people aged 90 or older, many of them centenarians, in Southern Denmark, Languedoc-Roussillon in France and Calabria in Italy, together with one of their children and, in a cousin-pair design, a child of a sibling who was or was not also long-lived, to investigate genetic and environmental factors in longevity and healthy ageing."; "PMID:16870633", "PMID:17989723", "PMID:20584770", "PMID:42176242"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 598; "long-lived probands (aged 90+) in the handgrip analysis; analysed subset, probands only (2006)"; "PMID:16870633"; rdfs:comment "Among 598 very old people (median age = 98 years) a clear North-South gradient was observed:" . _:2b082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECHA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11909; , ; "GCST90662914"; "A prospective cohort study of people with childhood-onset type 1 diabetes (onset before age 17) who were diagnosed, or seen within a year of diagnosis, at Children's Hospital of Pittsburgh between 1950 and 1980, followed since a baseline examination in 1986–1988 with biennial examinations and questionnaires for ten years and later questionnaires and examinations, to ascertain the incidence of and risk factors for complications of type 1 diabetes."; 658; "EDC", "Epidemiology of Diabetes Complications study"; ; rdfs:label "Pittsburgh Epidemiology of Diabetes Complications Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11909 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11909; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22851572+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The EDC study is a prospective cohort study of 933 participants with childhood-onset (aged <17 years) type 1 diabetes diagnosed at Children's Hospital of Pittsburgh from 1950 to 1980." . _:2b0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3478551/fullTextXML"; rdfs:comment "The Pittsburgh Epidemiology of Diabetes Complications (EDC) study cohort provides a unique opportunity to examine mortality and life-expectancy changes over time in a U.S. cohort with long-term (>30 years) follow-up, because the participants were all diagnosed with childhood-onset type 1 diabetes between 1950 and 1980." . _:2b0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90662914"; "Genetics of C-Peptide and Age at Diagnosis in Type 1 Diabetes."; "PMID:39556808", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11755686/fullTextXML"; rdfs:comment "A meta-GWAS of AAD was performed that comprised all studies included in the C-peptide meta-GWAS plus the Pittsburgh Epidemiology of Diabetes Complications (EDC) study (22)." . _:2b0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study of people with childhood-onset type 1 diabetes (onset before age 17) who were diagnosed, or seen within a year of diagnosis, at Children's Hospital of Pittsburgh between 1950 and 1980, followed since a baseline examination in 1986–1988 with biennial examinations and questionnaires for ten years and later questionnaires and examinations, to ascertain the incidence of and risk factors for complications of type 1 diabetes."; "PMID:22851572", "PMID:37533055", "PMID:39932735"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 658; "participants examined at the 1986-1988 baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11932817/fullTextXML"; rdfs:comment "All participants (n = 658) were diagnosed with type 1 diabetes, or seen within 1 year of their diagnosis, at Children’s Hospital of Pittsburgh between 1950 and 1980." . _:2b0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11916; , ; ; "GCST003219"; "A clinic-based case-control study of age-related macular degeneration in Scotland, collected by a group in Edinburgh with funding from the Chief Scientist Office (Scotland), whose cases with advanced or intermediate AMD and controls were ascertained by fundus examination or photography; its cases and controls replicated the association of complement C3 with AMD and were contributed to the International AMD Genomics Consortium's genome-wide association study."; 244; 351; "Edinburgh"; ; rdfs:label "Scottish AMD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11916 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11916; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17634448+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The common functional polymorphism rs2230199 (Arg80Gly) in the C3 gene, corresponding to the electrophoretic variants C3S (slow) and C3F (fast), was strongly associated with age-related macular degeneration in both the English group (603 cases and 350 controls, P=5.9x10(-5)) and the Scottish group (244 cases and 351 controls, P=5.0x10(-5))." . _:2b102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The Edinburgh group using the Scottish AMD study was funded by the Chief scientists Office (Scotland) CSO reference number: CZB/4/79" . _:2b112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003219"; "A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants."; "PMID:26691988", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The Edinburgh group using the Scottish AMD study was funded by the Chief scientists Office (Scotland) CSO reference number: CZB/4/79" . _:2b122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case-control study of age-related macular degeneration in Scotland, collected by a group in Edinburgh with funding from the Chief Scientist Office (Scotland), whose cases with advanced or intermediate AMD and controls were ascertained by fundus examination or photography; its cases and controls replicated the association of complement C3 with AMD and were contributed to the International AMD Genomics Consortium's genome-wide association study."; "PMID:17634448", "PMID:26691988"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 244; "Scottish replication cases and controls in the 2007 C3 study"; "PMID:17634448"; rdfs:comment "The common functional polymorphism rs2230199 (Arg80Gly) in the C3 gene, corresponding to the electrophoretic variants C3S (slow) and C3F (fast), was strongly associated with age-related macular degeneration in both the English group (603 cases and 350 controls, P=5.9x10(-5)) and the Scottish group (244 cases and 351 controls, P=5.0x10(-5))." . _:2b142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 351; "Scottish replication cases and controls in the 2007 C3 study"; "PMID:17634448"; rdfs:comment "The common functional polymorphism rs2230199 (Arg80Gly) in the C3 gene, corresponding to the electrophoretic variants C3S (slow) and C3F (fast), was strongly associated with age-related macular degeneration in both the English group (603 cases and 350 controls, P=5.9x10(-5)) and the Scottish group (244 cases and 351 controls, P=5.0x10(-5))." . _:2b152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Edinburgh"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11924, _:genid-371333f489424440b12a13b9d98ced822608-genid11926; , ; ; "GCST90295957"; "A multicentre cohort of active and retired employees aged 35–74 years of six Brazilian universities and research institutions, with study centres in state capitals of north-eastern, south-eastern and southern Brazil, examined at baseline in 2008–2010 and at later visits and followed by annual telephone interviews, to investigate the development of chronic diseases, primarily diabetes and cardiovascular diseases."; "The acronym ELSA also denotes The English Longitudinal Study of Ageing (COHO:0000163); this term is Estudo Longitudinal de Saúde do Adulto."@en; 15105; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELSA%20Brazil"; "Brazil Longitudinal Study of Adult Health", "Brazilian Longitudinal Study of Adult Health", "Brazilian Longitudinal Study of Adult Health (ELSA)", "ELSA", "ELSA Brazil", "ELSA-Brasil", "Estudo Longitudinal de Saude do Adulto", "Estudo Longitudinal de Saude do Adulto cohort", "Longitudinal Study of Adult Health"; , , ; rdfs:label "Estudo Longitudinal de Saúde do Adulto"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid11924 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11926 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11924; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339754/fullTextXML"; rdfs:comment "Thus, the Brazilian Longitudinal Study of Adult Health (in Portuguese, ‘Estudo Longitudinal de Saúde do Adulto’, ELSA-Brasil) aims to investigate the development of chronic diseases, primarily diabetes and cardiovascular diseases, over a long-term follow-up." . _:2b172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11926; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339754/fullTextXML"; rdfs:comment "Thus, the Brazilian Longitudinal Study of Adult Health (in Portuguese, ‘Estudo Longitudinal de Saúde do Adulto’, ELSA-Brasil) aims to investigate the development of chronic diseases, primarily diabetes and cardiovascular diseases, over a long-term follow-up." . _:2b182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4339754/fullTextXML"; rdfs:comment "With funding from the Brazilian government, as detailed in Acknowledgements, a group of Brazilian epidemiologists and clinicians from six institutions (Federal Universities of Bahia, Espírito Santo, Minas Gerais and Rio Grande do Sul; University of São Paulo; and Oswaldo Cruz Foundation), led by the authors of this article, organized the Study in centres located in state capitals of the north-eastern, south-eastern and southern regions of Brazil." . _:2b192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90295957"; "Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas."; "PMID:38190104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10794846/fullTextXML"; rdfs:comment "Brazil Longitudinal Study of Adult Health (ELSA): the authors thank the staff and participants of the Elsa Study for their important contributions." . _:2b1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre cohort of active and retired employees aged 35–74 years of six Brazilian universities and research institutions, with study centres in state capitals of north-eastern, south-eastern and southern Brazil, examined at baseline in 2008–2010 and at later visits and followed by annual telephone interviews, to investigate the development of chronic diseases, primarily diabetes and cardiovascular diseases."; "PMID:24585730"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15105; "civil servants enrolled at Visit 1 (baseline, 2008-2010)"; "PMID:24585730"; rdfs:comment "At Visit 1, we enrolled 15 105 civil servants from predefined universities or research institutes." . _:2b1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELSA"; . _:2b1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELSA Brazil"; . _:2b1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELSA-Brasil"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11935; , , , , ; "GCST90652520"; "A case-control study of childhood Burkitt lymphoma in malaria-endemic East Africa, sponsored by the US National Cancer Institute's intramural research program, that in 2010–2016 enrolled population-based cases and controls aged 0–15 years from six rural regions, two each in Uganda, Kenya and Tanzania, and used questionnaires, blood samples and genetic data to investigate infectious, immunological and genetic risk factors for Burkitt lymphoma."; 862; 2934; "EMBLEM", "EMBLEM study", "Epidemiology of Burkitt Lymphoma in East-African Children and Minors", "Epidemiology of Burkitt lymphoma in East African children and minors"; ; rdfs:label "Epidemiology of Burkitt Lymphoma in East African Children and Minors"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11935; "Burkitt lymphoma"; "https://emblem.cancer.gov/"; rdfs:comment "EMBLEM is a case control study of childhood Burkitt lymphoma (BL) designed to investigate risk factors of BL in malaria-endemic areas of Uganda, Tanzania, and Kenya." . _:2b202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12380610/supplementaryFiles"; rdfs:comment "Briefly, the EMBLEM study enrolled population-based cases and controls aged 0-15 years from six neighboring rural geographical areas—two each in Uganda, Kenya, and Tanzania (Figure 1a) during 2010-2016." . _:2b212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90652520"; "A genome-wide association study identifies an African-specific locus on chromosome 21q22.12 associated with Burkitt lymphoma risk and survival."; "PMID:40646133", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12380610/supplementaryFiles"; rdfs:comment "Briefly, the EMBLEM study enrolled population-based cases and controls aged 0-15 years from six neighboring rural geographical areas—two each in Uganda, Kenya, and Tanzania (Figure 1a) during 2010-2016." . _:2b222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of childhood Burkitt lymphoma in malaria-endemic East Africa, sponsored by the US National Cancer Institute's intramural research program, that in 2010–2016 enrolled population-based cases and controls aged 0–15 years from six rural regions, two each in Uganda, Kenya and Tanzania, and used questionnaires, blood samples and genetic data to investigate infectious, immunological and genetic risk factors for Burkitt lymphoma."; "PMID:40646133", "https://emblem.cancer.gov/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 862; "suspected Burkitt lymphoma cases and population controls enrolled 2010-2016"; "PMID:31054214"; rdfs:comment "We therefore conducted a population-based case-control study of eBL in children aged 0-15 years old in six regions in Northern Uganda, Northern Tanzania and Western Kenya, enrolling 862 suspected cases and 2,934 population controls (response rates 98.5-100%), and processing ~40,000 vials of samples using standardized protocols." . _:2b242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2934; "suspected Burkitt lymphoma cases and population controls enrolled 2010-2016"; "PMID:31054214"; rdfs:comment "We therefore conducted a population-based case-control study of eBL in children aged 0-15 years old in six regions in Northern Uganda, Northern Tanzania and Western Kenya, enrolling 862 suspected cases and 2,934 population controls (response rates 98.5-100%), and processing ~40,000 vials of samples using standardized protocols." . _:2b252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMBLEM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11943; , ; "GCST003061"; "A German case-control study of cutaneous melanoma, of patients with histologically confirmed cutaneous melanoma and healthy controls from Germany genotyped genome-wide, approved by the ethics committee of University Hospital Essen and funded by the Deutsche Forschungsgemeinschaft, whose data were contributed to international meta-analyses of melanoma genome-wide association studies."; 1218; 1223; ; rdfs:label "Essen-Heidelberg"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11943 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11943; "cutaneous melanoma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0611-8/MediaObjects/41588_2020_611_MOESM1_ESM.pdf"; rdfs:comment "Essen-Heidelberg, Germany Histologically confirmed cutaneous melanoma cases (N = 1,218) were genotyped using the Illumina HumanCytoSNP-12v1-0_D arrays (San Diego, CA, USA)." . _:2b272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0611-8/MediaObjects/41588_2020_611_MOESM1_ESM.pdf"; rdfs:comment "These were combined with healthy controls (N = 1,223) from Germany genotyped on the Illumina HumanOmniExpress12_v1_C array" . _:2b282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003061"; "Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma."; "PMID:26237428", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3373/MediaObjects/41588_2015_BFng3373_MOESM50_ESM.pdf"; rdfs:comment "Essen-Heidelberg 1,212 1,219 1.053 6,356,866 Unpublished" . _:2b292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German case-control study of cutaneous melanoma, of patients with histologically confirmed cutaneous melanoma and healthy controls from Germany genotyped genome-wide, approved by the ethics committee of University Hospital Essen and funded by the Deutsche Forschungsgemeinschaft, whose data were contributed to international meta-analyses of melanoma genome-wide association studies."; "PMID:26237428", "PMID:32341527"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1218; "melanoma cases and healthy controls genotyped (2015)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3373/MediaObjects/41588_2015_BFng3373_MOESM50_ESM.pdf"; rdfs:comment "1,218 melanoma cases were genotyped using 848 HumanCytoSNP-12v1-0_D arrays [Illumina] with 300,000 SNPs and 1,223 healthy controls from Germany were genotyped using HumanOmniExpress12_v1_C arrays [Illumina] with 731,000 SNPs." . _:2b2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1223; "melanoma cases and healthy controls genotyped (2015)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3373/MediaObjects/41588_2015_BFng3373_MOESM50_ESM.pdf"; rdfs:comment "1,218 melanoma cases were genotyped using 848 HumanCytoSNP-12v1-0_D arrays [Illumina] with 300,000 SNPs and 1,223 healthy controls from Germany were genotyped using HumanOmniExpress12_v1_C arrays [Illumina] with 731,000 SNPs." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11950; , ; "GCST90244658"; "A French multicentre case-control study of venous thromboembolism, run in 11 centres from 2003 to 2009, that enrolled consecutive adult inpatients and outpatients treated for a first objectively documented deep vein thrombosis and/or pulmonary embolism, without active cancer or malignancy in the previous 5 years, whose blood was mostly sampled in the week after diagnosis, and hospital controls matched for age, sex and centre with no history of venous or arterial thrombosis; the patients were also followed prospectively, to study risk factors for a first venous thromboembolism and for its recurrence."; 727; 727; 1454; "Etude des Facteurs de Risque de thrombose Veineuse", "FARIVE", "Facteurs de Risques et de Récidives de la Maladie Thromboembolique Veineuse"; ; rdfs:label "FActeurs de RIsque et de récidives de la maladie thromboembolique Veineuse"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11950 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11950; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10247781/fullTextXML"; rdfs:comment "The French FARIVE study recruited patients with confirmed acute VTE, with controls recruited from hospital patients treated for non-VTE causes." . _:2b2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10247781/fullTextXML"; rdfs:comment "The FARIVE study is a French multicentre case-control study carried out between 2003–2009, as previously described45." . _:2b2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244658"; "Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism."; "PMID:37286573", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10247781/fullTextXML"; rdfs:comment "The FARIVE study is a French multicentre case-control study carried out between 2003–2009, as previously described45." . _:2b2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French multicentre case-control study of venous thromboembolism, run in 11 centres from 2003 to 2009, that enrolled consecutive adult inpatients and outpatients treated for a first objectively documented deep vein thrombosis and/or pulmonary embolism, without active cancer or malignancy in the previous 5 years, whose blood was mostly sampled in the week after diagnosis, and hospital controls matched for age, sex and centre with no history of venous or arterial thrombosis; the patients were also followed prospectively, to study risk factors for a first venous thromboembolism and for its recurrence."; "PMID:19967159", "PMID:35463779", "PMID:36002395", "PMID:37286573", "PMID:37399490"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 727; "adults enrolled 2003-2007: first-VTE cases and matched controls"; "PMID:19967159"; rdfs:comment "We conducted a case-control study involving 1,454 adults enrolled in 11 French centers between 2003 and 2007, comprising 727 consecutive cases with a first documented episode of VTE and 727 age- and sex-matched controls." . _:2b312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 727; "adults enrolled 2003-2007: first-VTE cases and matched controls"; "PMID:19967159"; rdfs:comment "We conducted a case-control study involving 1,454 adults enrolled in 11 French centers between 2003 and 2007, comprising 727 consecutive cases with a first documented episode of VTE and 727 age- and sex-matched controls." . _:2b322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1454; "adults enrolled 2003-2007: first-VTE cases and matched controls"; "PMID:19967159"; rdfs:comment "We conducted a case-control study involving 1,454 adults enrolled in 11 French centers between 2003 and 2007, comprising 727 consecutive cases with a first documented episode of VTE and 727 age- and sex-matched controls." . _:2b332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FARIVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11959; "GCST90026612"; "A registry of patients with fibromuscular dysplasia, launched in December 2015 at the First Brussels National Meeting on FMD and endorsed by the European Society of Hypertension in 2016, that enrols prevalent and incident adult patients whose multifocal or focal FMD lesions in at least one arterial bed were shown by CT angiography, MR angiography or catheter angiography, at centres in Europe and a few other countries, recording their clinical characteristics, imaging, visits and vascular interventions on an online platform with an associated DNA and RNA biobank, to characterise the clinical profiles, complications and management of the disease. It also takes in data from existing national registries such as the French NOMADE and Polish ARCADIA-POL registries."; 1022; "European/International FMD Registry", "European/International FMD Registry and Initiative", "European/International Fibromuscular Dysplasia Registry", "FEIRI", "FMD European/International Registry and Initiative"; ; rdfs:label "European/International Fibromuscular Dysplasia Registry and Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11959 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11959; "fibromuscular dysplasia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32282921+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All patients diagnosed with FMD (string-of-beads or focal stenosis in at least one vascular bed) based on computed tomography angiography, magnetic resonance angiography, and/or catheter-based angiography were eligible." . _:2b352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026612"; "Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases."; "PMID:34654805", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "Patients were enroled through the European/International FMD Registry and Initiative (FEIRI)7." . _:2b362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of patients with fibromuscular dysplasia, launched in December 2015 at the First Brussels National Meeting on FMD and endorsed by the European Society of Hypertension in 2016, that enrols prevalent and incident adult patients whose multifocal or focal FMD lesions in at least one arterial bed were shown by CT angiography, MR angiography or catheter angiography, at centres in Europe and a few other countries, recording their clinical characteristics, imaging, visits and vascular interventions on an online platform with an associated DNA and RNA biobank, to characterise the clinical profiles, complications and management of the disease. It also takes in data from existing national registries such as the French NOMADE and Polish ARCADIA-POL registries."; "PMID:32282921", "https://orbi.uliege.be/bitstream/2268/250361/1/2020%20Cardiovas%20Res_Pappaccogli-FEIRI-1000%20FMD.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1022; "FMD patients enrolled December 2015 to 30 April 2019 (database lock)"; "PMID:32282921"; rdfs:comment "Since December 2015, the European/International Fibromuscular Dysplasia (FMD) Registry enrolled 1022 patients from 22 countries." . _:2b382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FEIRI"; . a owl:NamedIndividual, ; , ; "GCST90451684"; "A prospective cohort of whole-blood donors aged 18–70 recruited by the Finnish Red Cross Blood Service alongside standard donation at three fixed donation sites in the Helsinki metropolitan area of Finland (Kivihaka, Sanomatalo and Espoo) from May 2015 to December 2017, with blood samples taken at their donation visits during the study for blood counts, CRP, ferritin and soluble transferrin receptor and for DNA, and health and lifestyle questionnaires at enrolment and again in 2018, to study iron status and the genetic and lifestyle factors affecting iron stores in blood donors."; 2584; "FinDonor", "FinDonor 10000"; ; rdfs:label "FinDonor 10 000 study"@en . _:2b392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31657023+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 2584 blood donors (N = 8003 samples) were recruited into the study alongside standard donation at three donation sites in the capital region of Finland between 5/2015 and 12/2017." . _:2b3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451684"; "Novel loci and biomedical consequences of iron homoeostasis variation."; "PMID:39643614", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11624196/supplementaryFiles"; rdfs:comment "FinDonor 10000 (FinDonor) is a prospective study observing blood donor iron stores and genetic and lifestyle factors associated with iron stores." . _:2b3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of whole-blood donors aged 18–70 recruited by the Finnish Red Cross Blood Service alongside standard donation at three fixed donation sites in the Helsinki metropolitan area of Finland (Kivihaka, Sanomatalo and Espoo) from May 2015 to December 2017, with blood samples taken at their donation visits during the study for blood counts, CRP, ferritin and soluble transferrin receptor and for DNA, and health and lifestyle questionnaires at enrolment and again in 2018, to study iron status and the genetic and lifestyle factors affecting iron stores in blood donors."; "PMID:31657023"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2584; "blood donors recruited May 2015 to December 2017"; "PMID:31657023"; rdfs:comment "A total of 2584 blood donors (N = 8003 samples) were recruited into the study alongside standard donation at three donation sites in the capital region of Finland between 5/2015 and 12/2017." . _:2b3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinDonor"; . a owl:NamedIndividual, ; , ; "GCST90565136"; "A national health examination survey of adults aged 18 or older living in mainland Finland, run by the Finnish Institute for Health and Welfare (THL) at 50 study locations between January and May 2017 in a representative sample drawn from the Population Register by one- and two-stage stratified random sampling, in which participants answered questionnaires on sociodemographic factors, health, quality of life, lifestyle, diseases and medication and attended a health examination with physical measurements and blood sampling, to monitor the health, functional capacity and welfare of the Finnish population and the prevalence and risk factors of common health problems. It combined the protocols of the FINRISK surveys and the Health 2000 and 2011 surveys."; "FinHealth", "FinHealth 2017 Study", "FinHealth 2017 Survey", "FinHealth Study", "national FinHealth 2017 study"; ; rdfs:label "National FinHealth 2017 Study"@en . _:2b3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10899618/fullTextXML"; rdfs:comment "The national FinHealth 2017 study comprises a random sample of adults in Finland, and it focuses on objective and perceived health, quality of life, lifestyle, prevalence, and risk factors for common health problems including sleep, insomnia, and alcohol consumption." . _:2b3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565136"; "Nightmares share genetic risk factors with sleep and psychiatric traits."; "PMID:38413574", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10899618/fullTextXML"; rdfs:comment "The national FinHealth 2017 study comprises a random sample of adults in Finland, and it focuses on objective and perceived health, quality of life, lifestyle, prevalence, and risk factors for common health problems including sleep, insomnia, and alcohol consumption." . _:2b402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national health examination survey of adults aged 18 or older living in mainland Finland, run by the Finnish Institute for Health and Welfare (THL) at 50 study locations between January and May 2017 in a representative sample drawn from the Population Register by one- and two-stage stratified random sampling, in which participants answered questionnaires on sociodemographic factors, health, quality of life, lifestyle, diseases and medication and attended a health examination with physical measurements and blood sampling, to monitor the health, functional capacity and welfare of the Finnish population and the prevalence and risk factors of common health problems. It combined the protocols of the FINRISK surveys and the Health 2000 and 2011 surveys."; "PMID:32499541", "PMID:34706593", "PMID:34784307", "PMID:35405960", "PMID:38413574"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinHealth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11974, _:genid-371333f489424440b12a13b9d98ced822608-genid11976, _:genid-371333f489424440b12a13b9d98ced822608-genid11978, _:genid-371333f489424440b12a13b9d98ced822608-genid11980; , ; ; "GCST90054778"; "A population-based longitudinal cohort of the twins born in Finland in 1983–1987, the youngest of the three Finnish Twin Cohorts, identified through Finland's Central Population Registry and enrolled with their biological parents in the year they reached age 11, with twin, parent and teacher questionnaires and ratings at baseline and follow-up surveys at ages 14, 17, about 22 and about 37; a subset was studied intensively with in-school assessments and peer nominations at age 12, psychiatric interviews at ages 14 and 22, and neurocognitive tests and DNA collection in early adulthood. It was designed to identify individual, familial and school and neighbourhood risks for substance use before its onset and to follow trajectories of use, abuse and their consequences into adulthood."; 5184; "FT12", "FinnTwin12", "FinnTwin12 Study", "The Younger Finnish Twin Cohort"; ; rdfs:label "FinnTwin12 Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11974 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11976 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11978 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid11980 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11974; "alcohol use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7108792/fullTextXML"; rdfs:comment "The basic aim of the FT12 study design was to obtain information on individual, familial and school/neighborhood risks for substance use/abuse prior to the onset of regular tobacco and alcohol use and then track trajectories of use and abuse and their consequences into adulthood." . _:2b432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11976; "substance use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7108792/fullTextXML"; rdfs:comment "The basic aim of the FT12 study design was to obtain information on individual, familial and school/neighborhood risks for substance use/abuse prior to the onset of regular tobacco and alcohol use and then track trajectories of use and abuse and their consequences into adulthood." . _:2b442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11978; "tobacco use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7108792/fullTextXML"; rdfs:comment "The basic aim of the FT12 study design was to obtain information on individual, familial and school/neighborhood risks for substance use/abuse prior to the onset of regular tobacco and alcohol use and then track trajectories of use and abuse and their consequences into adulthood." . _:2b452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11980; "substance abuse"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7108792/fullTextXML"; rdfs:comment "The basic aim of the FT12 study design was to obtain information on individual, familial and school/neighborhood risks for substance use/abuse prior to the onset of regular tobacco and alcohol use and then track trajectories of use and abuse and their consequences into adulthood." . _:2b462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7108792/fullTextXML"; rdfs:comment "In the first stage, we conducted multiwave questionnaire research enrolling all eligible twins born in Finland during 1983–1987 along with their biological parents." . _:2b472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90054778"; "Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing Symptoms."; "PMID:35378236", "https://ars.els-cdn.com/content/image/1-s2.0-S0890856722001794-mmc2.docx"; rdfs:comment "FinnTwin12 is a population-based cohort of Finnish twins born 1983–1987 that was established to follow health and behavioural habits" . _:2b482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of the twins born in Finland in 1983–1987, the youngest of the three Finnish Twin Cohorts, identified through Finland's Central Population Registry and enrolled with their biological parents in the year they reached age 11, with twin, parent and teacher questionnaires and ratings at baseline and follow-up surveys at ages 14, 17, about 22 and about 37; a subset was studied intensively with in-school assessments and peer nominations at age 12, psychiatric interviews at ages 14 and 22, and neurocognitive tests and DNA collection in early adulthood. It was designed to identify individual, familial and school and neighbourhood risks for substance use before its onset and to follow trajectories of use, abuse and their consequences into adulthood."; "PMID:31640839", "PMID:39920525", "https://ars.els-cdn.com/content/image/1-s2.0-S0890856722001794-mmc2.docx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5184; "twins who completed the baseline survey at age 12 (parents not counted)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11882652/fullTextXML"; rdfs:comment "This represents 61.3% of the individuals who completed the young adulthood survey (Mage = 22 years) and 40.2% of the individuals who completed the baseline survey at age 12 (N = 5,184)." . _:2b4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FT12"; . _:2b4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinnTwin12"; . a owl:NamedIndividual, ; , ; "GCST90244057"; "A study of the genetic and environmental effects on the disablement process in older women, in which female twin pairs aged 63–76, recruited from the Older Finnish Twin Cohort, took part in laboratory examinations of physical functioning, muscle strength and power, hearing and other health measures, with blood sampling, in Jyväskylä, Finland, in 2000–2001 and again at a 3-year follow-up, and have since been followed for mortality, by researchers of the Gerontology Research Center of the University of Jyväskylä."; 434; "FITSA"; ; rdfs:label "Finnish Twin Study on Aging"@en . _:2b4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/supplementaryFiles"; rdfs:comment "Altogether 103 MZ and 114 DZ twin pairs (424 individuals, all women of European ancestry) aged 63-76 years living in Finland took part in multiple laboratory examinations in 2000 and 2003, and responded in 13 questionnaires in 2011." . _:2b4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244057"; "Rare variant analyses across multiethnic cohorts identify novel genes for refractive error."; "PMID:36596879", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/supplementaryFiles"; rdfs:comment "Finnish Twin Study on Aging (FITSA) is a study of genetic and environmental effects on the disablement process in older female twins." . _:2b4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of the genetic and environmental effects on the disablement process in older women, in which female twin pairs aged 63–76, recruited from the Older Finnish Twin Cohort, took part in laboratory examinations of physical functioning, muscle strength and power, hearing and other health measures, with blood sampling, in Jyväskylä, Finland, in 2000–2001 and again at a 3-year follow-up, and have since been followed for mortality, by researchers of the Gerontology Research Center of the University of Jyväskylä."; "PMID:17452741", "PMID:18350156", "PMID:34543398", "PMID:36682031"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 434; "women (103 MZ and 114 DZ twin pairs) examined at baseline, 2000-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10395559/fullTextXML"; rdfs:comment "The final sample included 114 DZ and 103 MZ twin pairs (434 individuals) aged 63–76 years." . _:2b502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FITSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid11993; ; "GCST90854245"; "A post-GWAS research programme on epithelial ovarian cancer, funded by the US National Cancer Institute (U19-CA148112) as the ovarian cancer consortium of the Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative, led from Moffitt Cancer Center and built on the collaboration of the Ovarian Cancer Association Consortium, that pools genome-wide and further genotyping data (including exome-chip and OncoArray genotyping) from the case-control studies of that consortium, to discover and replicate susceptibility variants, including histotype-specific variants and variants associated with survival, to study their biological mechanisms, and to investigate gene–gene and gene–environment interactions and risk prediction."; 25509; 40941; 66450; "FOCI", "FOCI-OCAC", "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies of the Ovarian Cancer Association Consortium", "The Follow-up of Ovarian Cancer Genetic Association and Interaction Studies"; ; rdfs:label "Follow-up of Ovarian Cancer Genetic Association and Interaction Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid11993 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid11993; "epithelial ovarian cancer"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001133/phs001133.v1.p1/GapExchange_phs001133.v1.p1.xml"; rdfs:comment "FOCI seeks to expand our understanding of epithelial ovarian cancer through a coordinated and comprehensive approach." . _:2b522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90854245"; "Boosting the Power of Rare Variant Association Studies by Imputation Using Large-scale Sequencing Population."; "PMID:40973091", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13005946/fullTextXML"; rdfs:comment "For EOC, three SNP array datasets were collected from the Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI)-OncoArray [64], the FOCI-Exome Chip [65], and the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) [66] (Table S26)." . _:2b532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A post-GWAS research programme on epithelial ovarian cancer, funded by the US National Cancer Institute (U19-CA148112) as the ovarian cancer consortium of the Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative, led from Moffitt Cancer Center and built on the collaboration of the Ovarian Cancer Association Consortium, that pools genome-wide and further genotyping data (including exome-chip and OncoArray genotyping) from the case-control studies of that consortium, to discover and replicate susceptibility variants, including histotype-specific variants and variants associated with survival, to study their biological mechanisms, and to investigate gene–gene and gene–environment interactions and risk prediction."; "PMID:23382860", "PMID:27598322", "PMID:29089348", "PMID:40973091", "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001133/phs001133.v1.p1/GapExchange_phs001133.v1.p1.xml"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25509; "cases and controls in the 2017 OCAC OncoArray analysis (FOCI-OncoArray)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "The analyses included 66,450 samples from seven genotyping projects: 40,941 controls, 22,406 invasive cases and 3,103 borderline cases." . _:2b552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 40941; "cases and controls in the 2017 OCAC OncoArray analysis (FOCI-OncoArray)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "The analyses included 66,450 samples from seven genotyping projects: 40,941 controls, 22,406 invasive cases and 3,103 borderline cases." . _:2b562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 66450; "cases and controls in the 2017 OCAC OncoArray analysis (FOCI-OncoArray)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "The analyses included 66,450 samples from seven genotyping projects: 40,941 controls, 22,406 invasive cases and 3,103 borderline cases." . _:2b572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOCI"; . _:2b582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOCI-OCAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12002, _:genid-371333f489424440b12a13b9d98ced822608-genid12004, _:genid-371333f489424440b12a13b9d98ced822608-genid12006, _:genid-371333f489424440b12a13b9d98ced822608-genid12008; , ; "GCST90454271"; "The human cohort of the German Research Foundation (DFG) research unit FOR2107 on the neurobiology of the major psychoses, recruited between 2014 and 2018 at the Universities of Marburg and Münster, Germany, through local psychiatric hospitals and newspaper advertisements: adults aged 18–65 with major depressive disorder, bipolar disorder, schizoaffective disorder or schizophrenia, healthy people at genetic and/or environmental risk, and healthy controls, deeply phenotyped with MRI, clinical course, neuropsychology, personality, risk and protective factors and biomaterials (blood, stool, urine, hair, saliva) at baseline and again at a 2-year follow-up, to identify how genetic and environmental factors shape brain structure and function and the course of these disorders."; "The acronym MACS also denotes Multicenter AIDS Cohort Study (COHO:0001368); this term is Marburg-Münster Affective Disorders Cohort Study."@en; 2500; "FOR2107", "FOR2107 Marburg-Münster Affective Disorders Cohort Study", "FOR2107 consortium", "MACS", "Marburg Münster Affective Disorders Cohort Study", "The FOR2107 consortium"; ; rdfs:label "Marburg-Münster Affective Disorders Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12002 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12004 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12006 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12008 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12002; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30267149+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A human cohort of MP patients, healthy subjects at genetic and/or environmental risk, and control subjects (N = 2500) has been established." . _:2b5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12004; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30267149+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A human cohort of MP patients, healthy subjects at genetic and/or environmental risk, and control subjects (N = 2500) has been established." . _:2b5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12006; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30267149+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A human cohort of MP patients, healthy subjects at genetic and/or environmental risk, and control subjects (N = 2500) has been established." . _:2b5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12008; "schizoaffective disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30267149+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A human cohort of MP patients, healthy subjects at genetic and/or environmental risk, and control subjects (N = 2500) has been established." . _:2b5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11116107/fullTextXML"; rdfs:comment "Briefly, participants aged 18−65 years were recruited at Marburg and Münster Universities in Germany through advertisements and in psychiatric hospitals." . _:2b5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454271"; "A meta-analysis of genome-wide studies of resilience in the German population."; "PMID:39112778", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11746137/supplementaryFiles"; rdfs:comment "The FOR2107 consortium was established to investigate the neurobiology of affective disorders." . _:2b5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The human cohort of the German Research Foundation (DFG) research unit FOR2107 on the neurobiology of the major psychoses, recruited between 2014 and 2018 at the Universities of Marburg and Münster, Germany, through local psychiatric hospitals and newspaper advertisements: adults aged 18–65 with major depressive disorder, bipolar disorder, schizoaffective disorder or schizophrenia, healthy people at genetic and/or environmental risk, and healthy controls, deeply phenotyped with MRI, clinical course, neuropsychology, personality, risk and protective factors and biomaterials (blood, stool, urine, hair, saliva) at baseline and again at a 2-year follow-up, to identify how genetic and environmental factors shape brain structure and function and the course of these disorders."; "PMID:29410079", "PMID:30267149", "PMID:38036604", "PMID:39112778", "PMID:42598116"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2500; "people deeply phenotyped at baseline (patients, at-risk and healthy controls), 2018"; "https://doi.org/10.1007/s00406-018-0943-x"; rdfs:comment "All human subjects (n = 2500) have been deeply phenotyped (see Table 2) and are followed up after 2 years." . _:2b612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOR2107"; . _:2b622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MACS"; . a owl:NamedIndividual, ; , ; "GCST90909136"; "A family-based study of healthy young people aged 14–35, recruited at the University of Michigan in Ann Arbor, United States, between June 2006 and January 2009 from the university's undergraduate and graduate students together with their biological siblings, with blood samples for measuring plasma haemostatic proteins (such as von Willebrand factor and plasminogen), genome-wide genotyping and a survey of common morphological traits, to identify the genetic factors behind variation in blood clotting in healthy people, using its sibling structure for linkage as well as association analysis."; 1189; "GABC"; ; rdfs:label "Genes and Blood Clotting Study"@en . _:2b632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12314372/fullTextXML"; rdfs:comment "A total of 1189 healthy individuals (ages 14-35) representing 507 sibships (with 2-6 siblings per family) from the University of Michigan, Ann Arbor, were recruited between June 26, 2006, and January 30, 2009." . _:2b642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90909136"; "Genome-Wide Scan of Fifth Finger Clinodactyly."; "PMID:40071514", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11897800/fullTextXML"; rdfs:comment "The third cohort included participants recruited as part of the GABC study between 2006 and 2009 (Desch et al. 2013)." . _:2b652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of healthy young people aged 14–35, recruited at the University of Michigan in Ann Arbor, United States, between June 2006 and January 2009 from the university's undergraduate and graduate students together with their biological siblings, with blood samples for measuring plasma haemostatic proteins (such as von Willebrand factor and plasminogen), genome-wide genotyping and a survey of common morphological traits, to identify the genetic factors behind variation in blood clotting in healthy people, using its sibling structure for linkage as well as association analysis."; "PMID:23267103", "PMID:25208887", "PMID:40071514", "PMID:40756183"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1189; "healthy individuals recruited in 507 sibships (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12314372/fullTextXML"; rdfs:comment "A total of 1189 healthy individuals (ages 14-35) representing 507 sibships (with 2-6 siblings per family) from the University of Michigan, Ann Arbor, were recruited between June 26, 2006, and January 30, 2009." . _:2b672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GABC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12021; , , , , , , , , , ; "GCST90565134"; "An international consortium of psoriasis genetics research groups in the United Kingdom, Ireland, Austria, Finland, Germany, Italy, the Netherlands, Spain and Sweden, with a management committee chaired from King's College London, that pools its members' collections of people of European descent with psoriasis vulgaris, together with controls from national control collections, for genetic association studies of psoriasis, including a genome-wide association study with the Wellcome Trust Case Control Consortium 2 and an Immunochip case–control study."; 2997; 9183; 12180; "GAP consortium", "GAPC"; ; rdfs:label "Genetic Analysis of Psoriasis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12021 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12021; "psoriasis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "We combined three existing GWAS datasets (hereafter referred to as Kiel3, CASP4 and WTCCC25) with two independent European-descent case-control datasets genotyped on the Immunochip: the Psoriasis Association Genetics Extension (PAGE: 3,580 cases and 5,902 controls) and the Genetic Analysis of Psoriasis Consortium (GAPC: 2,997 cases and 9,183 controls)" . _:2b692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "The Finland control data were from the DILGOM (Dietary, Lifestyle, and Genetic determinants of Obesity and Metabolic syndrome) collection" . _:2b6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "The German controls were obtained from the PopGen biobank and genotyped at the Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel." . _:2b6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "Groningen group (Italian and Dutch controls)" . _:2b6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "We did not include specific controls from Austria or Sweden, but PCA analysis suggested that the cases from these cohorts were well matched to the controls from the Netherlands and Germany." . _:2b6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "The Irish controls were provided by the Irish Blood Transfusion Service / TCD Biobank and the Irish cases collected with the aid of the Dublin Centre for Clinical Research." . _:2b6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "The GAPC cases and the Irish and Spanish controls were genotyped at the Wellcome Trust Sanger Institute (WTSI)" . _:2b6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510312/fullTextXML"; rdfs:comment "The UK controls were the WTCCC common controls that did not overlap with samples included in the original GWA studies (the dataset consisted of 6,740 1958 British Birth cohort and 2,900 UK Blood Service samples genotyped at the WTSI and the University of Virginia)." . _:2b702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565134"; "Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis."; "PMID:39885523", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11783861/supplementaryFiles"; rdfs:comment "Samples of the Genetic Analysis of Psoriasis Consortium (GAPC) datasets were collected from subjects of European Caucasian descent at the participating institutions after obtaining informed consent in adherence with the Declaration of Helsinki Principles." . _:2b712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of psoriasis genetics research groups in the United Kingdom, Ireland, Austria, Finland, Germany, Italy, the Netherlands, Spain and Sweden, with a management committee chaired from King's College London, that pools its members' collections of people of European descent with psoriasis vulgaris, together with controls from national control collections, for genetic association studies of psoriasis, including a genome-wide association study with the Wellcome Trust Case Control Consortium 2 and an Immunochip case–control study."; "PMID:20953190", "PMID:23143594", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2997; "cases and controls in the GAPC Immunochip dataset of the 2012 meta-analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "Study Cases (N) Controls (N) Total λGC Kiel1 474 1,146 1,620 1.09 CASP2 1,359 1,400 2,759 1.06 WTCCC23 2,178 5,175 7,353 1.04 PAGE 3,580 5,902 9,482 0.992 GAPC 2,997 9,183 12,180 0.963" . _:2b732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9183; "cases and controls in the GAPC Immunochip dataset of the 2012 meta-analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "Study Cases (N) Controls (N) Total λGC Kiel1 474 1,146 1,620 1.09 CASP2 1,359 1,400 2,759 1.06 WTCCC23 2,178 5,175 7,353 1.04 PAGE 3,580 5,902 9,482 0.992 GAPC 2,997 9,183 12,180 0.963" . _:2b742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12180; "cases and controls in the GAPC Immunochip dataset of the 2012 meta-analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2467/MediaObjects/41588_2012_BFng2467_MOESM43_ESM.pdf"; rdfs:comment "Study Cases (N) Controls (N) Total λGC Kiel1 474 1,146 1,620 1.09 CASP2 1,359 1,400 2,759 1.06 WTCCC23 2,178 5,175 7,353 1.04 PAGE 3,580 5,902 9,482 0.992 GAPC 2,997 9,183 12,180 0.963" . _:2b752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12036; , , ; ; "GCST90244101"; "A population-based case–control study of breast cancer, a collaboration of the US National Cancer Institute with three major hospitals in Accra and Kumasi, Ghana (Korle Bu Teaching Hospital, Komfo Anokye Teaching Hospital and Peace and Love Hospital), that in 2013–2015 enrolled women aged 18–74 recommended for biopsy of a breast lesion suspicious for malignancy, or treated for breast cancer, at these hospitals, and population controls sampled by household enumeration of the surrounding districts and frequency-matched on age and district, collecting interviews and tumour tissue, blood, saliva and faecal samples to study breast cancer risk factors in a West African population."; 2202; 2161; "GBHS", "Ghana breast health study"; ; rdfs:label "Ghana Breast Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12036 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12036; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28295287+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We therefore conducted a population-based case-control study in Accra and Kumasi, Ghana, enrolling 2,202 women with lesions suspicious for breast cancer and 2,161 population controls." . _:2b772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29324997+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In Accra and Kumasi, Ghana, we collected detailed information on usage patterns of both exposures among 1131 invasive breast cancer cases and 2106 population controls." . _:2b782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244101"; "Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach."; "PMID:35554533", "https://academic.oup.com/hmg/article/31/18/3133/6584730"; rdfs:comment "We used data in women of AA from four breast cancer GWAS consortia and the Ghana Breast Health Study (GBHS)" . _:2b792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of breast cancer, a collaboration of the US National Cancer Institute with three major hospitals in Accra and Kumasi, Ghana (Korle Bu Teaching Hospital, Komfo Anokye Teaching Hospital and Peace and Love Hospital), that in 2013–2015 enrolled women aged 18–74 recommended for biopsy of a breast lesion suspicious for malignancy, or treated for breast cancer, at these hospitals, and population controls sampled by household enumeration of the surrounding districts and frequency-matched on age and district, collecting interviews and tumour tissue, blood, saliva and faecal samples to study breast cancer risk factors in a West African population."; "PMID:28295287", "PMID:30990841", "PMID:38082317"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2202; "women enrolled 2013-2015: suspected-breast-cancer cases and population controls"; "PMID:28295287"; rdfs:comment "We therefore conducted a population-based case-control study in Accra and Kumasi, Ghana, enrolling 2,202 women with lesions suspicious for breast cancer and 2,161 population controls." . _:2b7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2161; "women enrolled 2013-2015: suspected-breast-cancer cases and population controls"; "PMID:28295287"; rdfs:comment "We therefore conducted a population-based case-control study in Accra and Kumasi, Ghana, enrolling 2,202 women with lesions suspicious for breast cancer and 2,161 population controls." . _:2b7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GBHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12044, _:genid-371333f489424440b12a13b9d98ced822608-genid12046; , , , , , , , , , ; "GCST90428821"; "A multicentre international case–control study of alcohol-related cirrhosis, run by the GenomALC Consortium of researchers in Australia, France, Germany, Switzerland, the United Kingdom and the United States with funding from the US National Institute on Alcohol Abuse and Alcoholism, that from September 2012 recruited, at liver and alcohol treatment clinics and from existing repositories of the participating centres, people who had drunk heavily (at least 80 g of alcohol a day for men or 50 g for women) for at least ten years, with alcoholic cirrhosis (cases) or without significant liver disease (controls), with interviews, clinical records and blood samples, to find genetic factors that predispose drinkers to cirrhosis. A second sample, GenomALC-2, added DNA and data that research groups in these countries and Belgium had collected for earlier genetic studies of alcohol-related liver disease."; 1293; 754; "Genetics of alcoholic liver cirrhosis consortium", "GenomALC Multinational Study"; ; rdfs:label "GenomALC"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12044 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12046 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12044; "chronic heavy drinking (≥80 g of alcohol/day for men, 50 g/d for women, for ≥10 years)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "Briefly, chronic heavy drinkers who reported consuming ≥80 g of alcohol/day (male) or 50 g/d (female) for ≥10 years with cirrhosis (cases) or without significant alcohol-associated liver disease (controls) were recruited." . _:2b7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12046; "alcoholic cirrhosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25872595+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "we are recruiting high-risk drinkers who are either cases (with alcoholic cirrhosis) or controls (drinking comparable amounts over similar time, but free of significant liver disease)." . _:2b7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "Patients enrolled in GenomALC-2 were from hospitals and clinics in the countries in GenomALC-1 and from Belgium." . _:2b802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "The GenomALC study participants were recruited at clinical sites in Australia, France, Germany, Switzerland, the United Kingdom, and the United States using our previously published enrollment protocol.16 Briefly, chronic heavy drinkers who reported consuming ≥80 g of alcohol/day (male) or 50 g/d (female) for ≥10 years with cirrhosis (cases) or without significant alcohol-associated liver disease (controls) were recruited." . _:2b812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90428821"; "A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry."; "PMID:38727677", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "The GenomALC study participants were recruited at clinical sites in Australia, France, Germany, Switzerland, the United Kingdom, and the United States using our previously published enrollment protocol.16 Briefly, chronic heavy drinkers who reported consuming ≥80 g of alcohol/day (male) or 50 g/d (female) for ≥10 years with cirrhosis (cases) or without significant alcohol-associated liver disease (controls) were recruited." . _:2b822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre international case–control study of alcohol-related cirrhosis, run by the GenomALC Consortium of researchers in Australia, France, Germany, Switzerland, the United Kingdom and the United States with funding from the US National Institute on Alcohol Abuse and Alcoholism, that from September 2012 recruited, at liver and alcohol treatment clinics and from existing repositories of the participating centres, people who had drunk heavily (at least 80 g of alcohol a day for men or 50 g for women) for at least ten years, with alcoholic cirrhosis (cases) or without significant liver disease (controls), with interviews, clinical records and blood samples, to find genetic factors that predispose drinkers to cirrhosis. A second sample, GenomALC-2, added DNA and data that research groups in these countries and Belgium had collected for earlier genetic studies of alcohol-related liver disease."; "PMID:25872595", "PMID:38727677"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1293; "cases and drinking controls of the GenomALC case-control study (GenomALC-1), 2021"; "PMID:32868629"; rdfs:comment "We conducted a multicenter case-control study (GenomALC) comparing 1,293 cases (with alcohol-related cirrhosis, 75.6% male) and 754 controls (with equivalent alcohol exposure but no evidence of liver disease, 73.6% male)." . _:2b842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 754; "cases and drinking controls of the GenomALC case-control study (GenomALC-1), 2021"; "PMID:32868629"; rdfs:comment "We conducted a multicenter case-control study (GenomALC) comparing 1,293 cases (with alcohol-related cirrhosis, 75.6% male) and 754 controls (with equivalent alcohol exposure but no evidence of liver disease, 73.6% male)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12054; ; , , , , , , , , , , , , , , , ; "GCST90103971"; "An international non-profit consortium, established in 1997, of most of the research groups working on the genetics of familial melanoma, in Europe, North America, Australia and elsewhere, funded by the European Commission's Sixth Framework Programme and the US National Cancer Institute, which pools data and samples from its members' melanoma-prone families and case–control series to find melanoma susceptibility genes and how they interact with environmental factors such as ultraviolet radiation. Its genome-wide association study combined melanoma cases, prioritised for family history, multiple primaries or early onset, and controls from the same populations, contributed by member groups in Europe, Israel and Australia, with French and UK population controls."; 2981; 1982; "GenoMEL", "GenoMEL Consortium", "GenoMEL consortium", "International Melanoma Genetics Consortium"; ; rdfs:label "Melanoma Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12054; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21983787+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs)." . _:2b862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0611-8/MediaObjects/41588_2020_611_MOESM1_ESM.pdf"; rdfs:comment "Additional clinically confirmed cutaneous melanoma cases and controls were available from two French cohorts contributing to GenoMEL Phase 1 and 2; MELARISK (535 cases)" . _:2b872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2957428/fullTextXML"; rdfs:comment "The following geographic locales were defined across three continents: Europe—France (Paris), Italy (Emilia-Romagna and Genoa), the Netherlands (Leiden), Spain (Barcelona), Sweden (Lund, Stockholm), and United Kingdom (Glasgow, Leeds); North America—Boston, NCI, Philadelphia, and Toronto; Australia—Brisbane and Sydney." . _:2b882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2957428/fullTextXML"; rdfs:comment "The participants of GenoMEL in Toronto, Canada" . _:2b892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251256/fullTextXML"; rdfs:comment "the analysis utilised 2,804 cases (2,692 European and 112 Israeli) and 1,835 controls from GenoMEL studies and 5,783 controls from France and the UK Wellcome Trust Case-Control Consortium (WTCCC)." . _:2b8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.959/MediaObjects/41588_2011_BFng959_MOESM15_ESM.pdf"; rdfs:comment "These regions were: Scandinavia (Lund, Stockholm and Norway)" . _:2b8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.959/MediaObjects/41588_2011_BFng959_MOESM15_ESM.pdf"; rdfs:comment "UK/Netherlands (Leeds, Leiden and Glasgow), France, Spain, Israel and Poland." . _:2b8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2957428/fullTextXML"; rdfs:comment "The participants of GenoMEL in Boston, United States" . _:2b8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90103971"; "Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma."; "PMID:34813871", "https://ars.els-cdn.com/content/image/1-s2.0-S0022202X21025136-mmc1.pdf"; rdfs:comment "European GenoMEL Phase 1 1,075 2,163 Illumina 317k" . _:2b8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international non-profit consortium, established in 1997, of most of the research groups working on the genetics of familial melanoma, in Europe, North America, Australia and elsewhere, funded by the European Commission's Sixth Framework Programme and the US National Cancer Institute, which pools data and samples from its members' melanoma-prone families and case–control series to find melanoma susceptibility genes and how they interact with environmental factors such as ultraviolet radiation. Its genome-wide association study combined melanoma cases, prioritised for family history, multiple primaries or early onset, and controls from the same populations, contributed by member groups in Europe, Israel and Australia, with French and UK population controls."; "PMID:20876876", "PMID:21983787", "https://genomel.org/about/", "https://genomel.org/research/programme-and-aims/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2981; "melanoma cases and study-specific controls in the discovery phase of the 2011 GenoMEL GWAS"; "PMID:21983787"; rdfs:comment "Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs)." . _:2b902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1982; "melanoma cases and study-specific controls in the discovery phase of the 2011 GenoMEL GWAS"; "PMID:21983787"; rdfs:comment "Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs)." . _:2b912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenoMEL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12068, _:genid-371333f489424440b12a13b9d98ced822608-genid12070; , ; "GCST90700332"; "A multicentre observational cohort of adult patients of European ancestry with sepsis of any cause admitted to a network of intensive care units in Spain, recruited through the GEN-SEP Network of Spanish investigators in two periods (2002–2015 and 2016–2019) and followed for the development of acute respiratory distress syndrome and for 28-day survival, whose DNA is used in genetic studies of sepsis-associated ARDS and sepsis outcomes."; 304; 501; 805; "GEN-SEP", "GEN-SEP Network", "Genetics of Sepsis Network", "Genetics of Sepsis-induced ARDS Network"; ; rdfs:label "GENetics of SEPsis-induced ARDS Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12068 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12070 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12068; "acute respiratory distress syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/supplementaryFiles"; rdfs:comment "GEN-SEP is a multicentre, observational study conducted in a Spanish network of ICUs comprising adult patients with all-cause sepsis of European ancestry recruited in two periods (in 2002-2015 and in 2016-2019) (Hernandez-Beeftink et al., 2022)." . _:2b932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12070; "sepsis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/supplementaryFiles"; rdfs:comment "GEN-SEP is a multicentre, observational study conducted in a Spanish network of ICUs comprising adult patients with all-cause sepsis of European ancestry recruited in two periods (in 2002-2015 and in 2016-2019) (Hernandez-Beeftink et al., 2022)." . _:2b942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/supplementaryFiles"; rdfs:comment "GEN-SEP is a multicentre, observational study conducted in a Spanish network of ICUs comprising adult patients with all-cause sepsis of European ancestry recruited in two periods (in 2002-2015 and in 2016-2019) (Hernandez-Beeftink et al., 2022)." . _:2b952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90700332"; "Genome-wide association study of susceptibility to acute respiratory distress syndrome."; "PMID:41033104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12516505/fullTextXML"; rdfs:comment "We performed a GWAS meta-analysis on 5115 critically ill patients, 82.8% with severe infections, comprising 716 ARDS cases and 4399 at-risk controls from three independent studies (Fig. 1, Table S1): the GENetics of SEPsis-induced ARDS Network (GEN-SEP), the Critical Care Trials Group of the German Sepsis Competence Network (SepNet), and UK Biobank (UKBB)." . _:2b962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre observational cohort of adult patients of European ancestry with sepsis of any cause admitted to a network of intensive care units in Spain, recruited through the GEN-SEP Network of Spanish investigators in two periods (2002–2015 and 2016–2019) and followed for the development of acute respiratory distress syndrome and for 28-day survival, whose DNA is used in genetic studies of sepsis-associated ARDS and sepsis outcomes."; "PMID:29987654", "PMID:36335405", "PMID:41033104"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 304; "sepsis patients in the 2025 ARDS GWAS (analysed subset; 304 with ARDS, 501 without)"; "PMID:41033104"; rdfs:comment "We included a total of 805 patients from the GEN-SEP cohort (304 ARDS cases and 501 at-risk controls), 740 patients from SepNet (91 ARDS cases and 649 at-risk controls), and 3570 patients from UKBB (321 ARDS cases and 3249 at-risk controls)." . _:2b982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 501; "sepsis patients in the 2025 ARDS GWAS (analysed subset; 304 with ARDS, 501 without)"; "PMID:41033104"; rdfs:comment "We included a total of 805 patients from the GEN-SEP cohort (304 ARDS cases and 501 at-risk controls), 740 patients from SepNet (91 ARDS cases and 649 at-risk controls), and 3570 patients from UKBB (321 ARDS cases and 3249 at-risk controls)." . _:2b992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 805; "sepsis patients in the 2025 ARDS GWAS (analysed subset; 304 with ARDS, 501 without)"; "PMID:41033104"; rdfs:comment "We included a total of 805 patients from the GEN-SEP cohort (304 ARDS cases and 501 at-risk controls), 740 patients from SepNet (91 ARDS cases and 649 at-risk controls), and 3570 patients from UKBB (321 ARDS cases and 3249 at-risk controls)." . _:2b9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEN-SEP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12079; , ; ; "GCST90188370"; "A population-based case–control study of early-onset ischaemic stroke, run from the University of Maryland, Baltimore, that recruited women and men aged 15–49 with a first ischaemic stroke, identified by discharge surveillance at 59 hospitals of the greater Baltimore–Washington area of the United States and by referral from regional neurologists, in four periods between 1992 and 2008, together with controls without stroke found by random-digit dialling and matched on age and region of residence, in a biracial sample of European American and African American participants; it was designed to identify the genetic determinants of early-onset ischaemic stroke and their interactions with environmental risk factors."; 830; 907; 1737; "GEOS", "Genetics of Early Onset Stroke", "Genetics of Early Onset Stroke study", "Genetics of Early-Onset Stroke", "Genetics of Early-Onset Stroke Study", "University of Maryland-Genetics of Early-Onset Stroke", "genetics of early onset stroke study", "genetics of early-onset stroke study"; ; rdfs:label "Genetics of Early Onset Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12079 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2b9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12079; "early-onset ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10718488/fullTextXML"; rdfs:comment "The Genetics of Early Onset Stroke Study is a population-based case-control study designed to identify genetic determinants of early-onset arterial ischemic stroke and to characterize interactions with environmental risk factors." . _:2b9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10718488/fullTextXML"; rdfs:comment "Stroke cases aged 15–49 years old at the time of ischemic stroke were recruited from the greater Baltimore-Washington area over 4 time periods between 1992 and 2008, along with age and sex matched controls" . _:2b9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90188370"; "Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke."; "PMID:36240095", "https://cdn-links.lww.com/permalink/wnl/c/wnl_2022_08_08_mitchell_1_sdc1.pdf"; rdfs:comment "The GEOS study is a population-based case-control study designed to identify the genetic determinants of early-onset ischemic stroke" . _:2b9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of early-onset ischaemic stroke, run from the University of Maryland, Baltimore, that recruited women and men aged 15–49 with a first ischaemic stroke, identified by discharge surveillance at 59 hospitals of the greater Baltimore–Washington area of the United States and by referral from regional neurologists, in four periods between 1992 and 2008, together with controls without stroke found by random-digit dialling and matched on age and region of residence, in a biracial sample of European American and African American participants; it was designed to identify the genetic determinants of early-onset ischaemic stroke and their interactions with environmental risk factors."; "PMID:23459313", "PMID:38094903", "https://cdn-links.lww.com/permalink/wnl/c/wnl_2022_08_08_mitchell_1_sdc1.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2b9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 830; "GEOS participants: first ischaemic stroke cases and stroke-free controls (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582818/fullTextXML"; rdfs:comment "Characteristics of the 1737 GEOS study participants (830 cases - 43% African-American and 907 controls - 39% African-American) are summarized in Table 1." . _:2ba02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 907; "GEOS participants: first ischaemic stroke cases and stroke-free controls (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582818/fullTextXML"; rdfs:comment "Characteristics of the 1737 GEOS study participants (830 cases - 43% African-American and 907 controls - 39% African-American) are summarized in Table 1." . _:2ba12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1737; "GEOS participants: first ischaemic stroke cases and stroke-free controls (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582818/fullTextXML"; rdfs:comment "Characteristics of the 1737 GEOS study participants (830 cases - 43% African-American and 907 controls - 39% African-American) are summarized in Table 1." . _:2ba22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12088; , , , , , , , , , , , , , , , , , ; "GCST90833065"; "A global collaboration that aims to bring together all available genetic studies of osteoarthritis, meta-analysing genome-wide association data on osteoarthritis at different joint sites (hip, knee, hand, finger, thumb and spine) and related traits from its contributing cohorts and biobanks in Europe, East Asia, North America and Australia, among them UK Biobank, arcOGEN, deCODE, the HUNT Study, the Estonian Biobank, the Rotterdam Study, FinnGen and the Million Veteran Program."; 489975; 1472094; 1962069; "GO", "GO Consortium", "Genetics of Osteoarthritis", "Genetics of Osteoarthritis consortium"; ; rdfs:label "Genetics of Osteoarthritis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12088 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ba32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12088; "osteoarthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34450027+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated risk variants across 11 osteoarthritis phenotypes, 52 of which have not been associated with the disease before." . _:2ba42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The Aged Study was conducted in 1993 as a multi-wave mailout to 4562 twins (2281 pairs) aged over 50 years old who were registered with the Australian Twin Registry." . _:2ba52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The China Kadoorie Biobank (CKB) is a prospective cohort of 512,000 adults aged 30-79 years, recruited from ten rural and urban areas of China during 2004-2008." . _:2ba62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "This study is based on material from Copenhagen Hospital Biobank (CHB), a regional biobank containing leftover EDTA whole blood samples from type and screen analyses in patients admitted to hospitals in the Capital Region of Denmark." . _:2ba72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The Estonian Biobank cohort is a volunteer-based sample of the Estonian resident adult population (aged ≥18 years)." . _:2ba82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The aim is to get 500,000 Finns to participate in the study through donations of samples to biobanks." . _:2ba92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The osteoarthritis participants’ recruitment was conducted in the city of Larissa, central Greece." . _:2baa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "Volunteers of southern Chinese ancestry living in Hong Kong were recruited for assessment which included a questionnaire for low back pain and associated symptoms and sagittal T2-weighted fast spin-echo MRI of the spine." . _:2bab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The deCODE genetics osteoarthritis study is an ongoing population based study in Iceland that was initiated in 1997." . _:2bac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The Japanese cohort of knee OA GWAS (disease cohort) consists of 900 cases and 3,400 controls." . _:2bad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The RAAK study is aimed at the biobanking of joint materials as well as mesenchymal stem cells and primary chondrocytes from patients (paired preserved and OA affected cartilage samples) and controls in the Leiden University Medical Center and collaborating outpatient clinics in the Leiden area in The Netherlands." . _:2bae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The HUNT Study is a longitudinal, population-based health study, which has been conducted in the county of Nord-Trøndelag, Norway, since 1984." . _:2baf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "Samples were collected in 2 stages from 10 United Kingdom locations (London, Nottingham, Oxford, Sheffield, Southampton, Edinburgh, Newcastle-Upon-Tyne, Sheffield, Wansbeck, and Worcester)." . _:2bb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html"; rdfs:comment "The United States Million Veteran Program (MVP) is a national research program to learn how genes, lifestyle, and military exposures affect health and illness." . _:2bb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833065"; "Genetic study identifies novel genes in developmental dysplasia of the hip."; "PMID:41912496", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13035913/fullTextXML"; rdfs:comment "Since DDH is a strong risk factor of hip OA, to maximize statistical power to detect novel signals in hip OA, we used summary statistics of European hip OA in GO,25 international consortium of osteoarthritis, and meta-analyzed with Japanese DDH." . _:2bb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A global collaboration that aims to bring together all available genetic studies of osteoarthritis, meta-analysing genome-wide association data on osteoarthritis at different joint sites (hip, knee, hand, finger, thumb and spine) and related traits from its contributing cohorts and biobanks in Europe, East Asia, North America and Australia, among them UK Biobank, arcOGEN, deCODE, the HUNT Study, the Estonian Biobank, the Rotterdam Study, FinnGen and the Million Veteran Program."; "PMID:34450027", "https://www.genetics-osteoarthritis.com/contributing-studies/contributing-studies/index.html", "https://www.genetics-osteoarthritis.com/themenmenue/home/index.html"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 489975; "individuals in the 2025 GO 2.0 GWAS meta-analysis (osteoarthritis cases and controls)"; "https://www.nature.com/articles/s41586-025-08771-z"; rdfs:comment "Here we conducted a large-scale GWAS meta-analysis across 1,962,069 individuals, achieving a 2.64-fold increase in effective sample size compared with the next largest GWAS3." . _:2bb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1472094; "individuals in the 2025 GO 2.0 GWAS meta-analysis (osteoarthritis cases and controls)"; "https://www.nature.com/articles/s41586-025-08771-z"; rdfs:comment "Here we conducted a large-scale GWAS meta-analysis across 1,962,069 individuals, achieving a 2.64-fold increase in effective sample size compared with the next largest GWAS3." . _:2bb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1962069; "individuals in the 2025 GO 2.0 GWAS meta-analysis (osteoarthritis cases and controls)"; "https://www.nature.com/articles/s41586-025-08771-z"; rdfs:comment "Here we conducted a large-scale GWAS meta-analysis across 1,962,069 individuals, achieving a 2.64-fold increase in effective sample size compared with the next largest GWAS3." . _:2bb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12109, _:genid-371333f489424440b12a13b9d98ced822608-genid12111, _:genid-371333f489424440b12a13b9d98ced822608-genid12113, _:genid-371333f489424440b12a13b9d98ced822608-genid12115; , , , , ; "GCST90267543"; "A multinational retrospective cohort of paediatric cancer patients treated between 1975 and 2020 at hospitals in the Netherlands, Italy and Australia, made up of osteosarcoma and brain tumour cohorts and mostly treated with cisplatin or carboplatin, assembled by the Genetics of Childhood Cancer Treatment consortium for pharmacogenetic research such as studies of platinum-induced hearing loss."; 971; "GO-CAT"; ; rdfs:label "Genetics of Childhood Cancer Treatment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12109 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12111 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12113 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12115 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12109; "childhood cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The GO-CAT cohort is a multinational retrospective cohort of pediatric cancer patients, treated between 1975 and 2020." . _:2bb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12111; "medulloblastoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The GO-CAT cohort is a multinational retrospective cohort of pediatric cancer patients, treated between 1975 and 2020." . _:2bb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12113; "osteosarcoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The GO-CAT cohort is a multinational retrospective cohort of pediatric cancer patients, treated between 1975 and 2020." . _:2bba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12115; "low-grade glioma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "The GO-CAT cohort is a multinational retrospective cohort of pediatric cancer patients, treated between 1975 and 2020." . _:2bbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "Participating centers included Radboud university medical center (Nijmegen, Netherlands), University Medical Center of Groningen (Groningen, Netherlands), Leiden University Medical Center (Leiden, Netherlands), Academic Medical Center (Amsterdam, Netherlands), Fondazione IRCCS Istituto Nazionale Tumori (Milan, Italy) and The Children’s Hospital at Westmead (Sydney, Australia)." . _:2bbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90267543"; "Genome-wide analyses of platinum-induced ototoxicity in childhood cancer patients: Results of GO-CAT and United Kingdom MAGIC consortia."; "PMID:36699085", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36699085+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Therefore, a genome-wide association study was performed in the Genetics of Childhood Cancer Treatment (GO-CAT) cohort (n = 261) and the United Kingdom Molecular Genetics of Adverse Drug Reactions in Children Study (United Kingdom MAGIC) cohort (n = 248)." . _:2bbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational retrospective cohort of paediatric cancer patients treated between 1975 and 2020 at hospitals in the Netherlands, Italy and Australia, made up of osteosarcoma and brain tumour cohorts and mostly treated with cisplatin or carboplatin, assembled by the Genetics of Childhood Cancer Treatment consortium for pharmacogenetic research such as studies of platinum-induced hearing loss."; "PMID:36699085"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 971; "subjects in the GO-CAT clinical dataset (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9870026/fullTextXML"; rdfs:comment "In summary, of the 971 subjects in the clinical dataset of GO-CAT, a total of 591 subjects met the clinical inclusion criteria, of whom 360 subjects had genetic material available for genotyping." . _:2bbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GO-CAT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12122; , ; "GCST90301252"; "A case collection of people with Dupuytren disease recruited from 2007 through plastic and hand surgery clinics in the Netherlands, with blood samples for DNA and surgeon-recorded clinical data such as age at onset, family history, bilateral and ectopic disease and recurrence, for genetic studies of Dupuytren disease."; 2195; "GODDAF", "Genetic Origin of Dupuytren Disease Study", "Genetic Origin of Dupuytren Disease study"; ; rdfs:label "Genetic Origin of Dupuytren Disease and Associated Fibromatosis study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12122 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12122; "Dupuytren disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "For the GODDAF study, case subjects were identified from plastic surgery clinics within the Netherlands, and DNA and phenotype data were obtained as previously described." . _:2bc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "For the GODDAF study, case subjects were identified from plastic surgery clinics within the Netherlands, and DNA and phenotype data were obtained as previously described." . _:2bc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90301252"; "A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease."; "PMID:38172110", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10764787/fullTextXML"; rdfs:comment "We gratefully thank the participants and investigators of the GODDAF study, Lifelines biobank, BSSH-GODD study, United Kingdom Household Longitudinal study, the UK Biobank initiative, German Dupuytren Study, FinnGen study, PopGen and Kora studies for their important contributions." . _:2bc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case collection of people with Dupuytren disease recruited from 2007 through plastic and hand surgery clinics in the Netherlands, with blood samples for DNA and surgeon-recorded clinical data such as age at onset, family history, bilateral and ectopic disease and recurrence, for genetic studies of Dupuytren disease."; "PMID:28886342", "PMID:30688894", "PMID:37257093"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2195; "Dupuytren disease case subjects from GODDAF in the 2017 GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5591021/fullTextXML"; rdfs:comment "The Dutch cohort consisted of 2,195 case subjects from the GODDAF Study and 1,983 control subjects from the Lifelines cohort study." . _:2bc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GODDAF"; . a owl:NamedIndividual, ; , ; "GCST90336598"; "A study of healthy young adults aged 18–30 of self-reported Caucasian, non-Hispanic ancestry with low levels of alcohol and drug use, recruited from the community at the University of Chicago and the University of Georgia in the United States, and from the Georgia site's undergraduate research pool, who completed a laboratory battery of impulsivity measures (delay discounting, response inhibition, risk-taking and impulsive personality traits) and gave saliva DNA for genotyping, to study the genetic basis of impulsivity."; 1252; "GOI"; ; rdfs:label "Genetics of Impulsivity project"@en . _:2bc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618088/fullTextXML"; rdfs:comment "A total of 934 Caucasian-ancestry participants 18–30 years of age were tested at two sites (40% at Athens, GA and 60% Chicago, IL)." . _:2bc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90336598"; "Polygenic contributions to performance on the Balloon Analogue Risk Task."; "PMID:37582857", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10618088/fullTextXML"; rdfs:comment "Genetic, cognitive and behavioral data were similarly collected in the Genetics of Impulsivity (GOI) project, performed at the University of Georgia and the University of Chicago." . _:2bc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of healthy young adults aged 18–30 of self-reported Caucasian, non-Hispanic ancestry with low levels of alcohol and drug use, recruited from the community at the University of Chicago and the University of Georgia in the United States, and from the Georgia site's undergraduate research pool, who completed a laboratory battery of impulsivity measures (delay discounting, response inhibition, risk-taking and impulsive personality traits) and gave saliva DNA for genotyping, to study the genetic basis of impulsivity."; "PMID:27449350", "PMID:29120849", "PMID:37582857"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1252; "young adults assessed in the laboratory battery at the two sites (2016)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5204128/"; rdfs:comment "Participants were 1252 young adults (62% female) with low levels of addictive behavior who were assessed in individual laboratory rooms at the University of Chicago and the University of Georgia." . _:2bca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12134, _:genid-371333f489424440b12a13b9d98ced822608-genid12136; , ; , ; "GCST90295957"; "A family-based study of Latinos of Mexican or Central American origin in the Los Angeles area, run jointly by Cedars-Sinai Medical Center and the Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, which from 2007 recruited probands with type 2 diabetes and either diabetic retinopathy or diabetes of at least ten years' duration together with their siblings and parents, with retinopathy graded from fundus photographs, to study the genetics of diabetic retinopathy and other complications of diabetes."; 614; "GOLDR", "Genetics of Latinos Diabetic Retinopathy Study"; ; rdfs:label "Genetics of Latinos Diabetic Retinopathy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12134 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12136 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12134; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4212555/fullTextXML"; rdfs:comment "The GOLDR study is a family-based study assessing diabetes and diabetic complications in families (siblings and/or parents) of a proband, defined as having type 2 diabetes and either known DR or a diabetes duration of ≥10 years." . _:2bcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12136; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4212555/fullTextXML"; rdfs:comment "The GOLDR study is a family-based study assessing diabetes and diabetic complications in families (siblings and/or parents) of a proband, defined as having type 2 diabetes and either known DR or a diabetes duration of ≥10 years." . _:2bcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4212555/fullTextXML"; rdfs:comment "Large family-based cohort of Latinos with type 2 diabetes recruited exclusively in the Los Angeles area." . _:2bce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90295957"; "Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas."; "PMID:38190104", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10794846/fullTextXML"; rdfs:comment "Genetics of Latinos Diabetic Retinopathy (GOLDR): GOLDR was supported in part by the Genetics of Latinos Diabetic Retinopathy (GOLDR) Study grant EY14684." . _:2bcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of Latinos of Mexican or Central American origin in the Los Angeles area, run jointly by Cedars-Sinai Medical Center and the Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, which from 2007 recruited probands with type 2 diabetes and either diabetic retinopathy or diabetes of at least ten years' duration together with their siblings and parents, with retinopathy graded from fundus photographs, to study the genetics of diabetic retinopathy and other complications of diabetes."; "PMID:22330960", "PMID:25452868"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 614; "Latinos with type 2 diabetes and readable retinal images (diabetic subset), 2020"; "https://europepmc.org/article/PMC/PMC7208167" . _:2bd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOLDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12143; "GCST90320242"; "A worldwide programme, the first resource project of the Aligning Science Across Parkinson's initiative, that genotypes and sequences people with Parkinson's disease, and some controls, from existing and newly collected patient and cohort collections, working with established Parkinson's disease consortia and focusing on populations under-represented in genetic research, and shares the harmonised data to find genetic causes of and risk factors for typical and monogenic Parkinson's disease."; 36127; 19475; "GP2", "Global Parkinson's Disease Genetics Program"; ; rdfs:label "Global Parkinson's Genetics Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12143 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12143; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9290711/fullTextXML"; rdfs:comment "For the most part, GP2 will use existing or ongoing patient and cohort collections and will work with established PD consortia; however, in some instances GP2 will support the collection of additional patients, particularly from underserved communities." . _:2bd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90320242"; "Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study."; "PMID:37633302", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37633302+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Individuals were included from several cohorts that were available as a part of the Global Parkinson's Genetics Program, the International Parkinson's Disease Genomics Consortium Africa, and 23andMe." . _:2bd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A worldwide programme, the first resource project of the Aligning Science Across Parkinson's initiative, that genotypes and sequences people with Parkinson's disease, and some controls, from existing and newly collected patient and cohort collections, working with established Parkinson's disease consortia and focusing on populations under-represented in genetic research, and shares the harmonised data to find genetic causes of and risk factors for typical and monogenic Parkinson's disease."; "PMID:33513272", "PMID:37633302"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 36127; "PD cases and controls across nine ancestries in a 2026 GP2 analysis"; "PMID:41808632"; rdfs:comment "Using genotyping, imputed, and whole-genome sequencing data from 36,127 PD cases and 19,475 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability." . _:2bd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19475; "PD cases and controls across nine ancestries in a 2026 GP2 analysis"; "PMID:41808632"; rdfs:comment "Using genotyping, imputed, and whole-genome sequencing data from 36,127 PD cases and 19,475 controls across nine ancestral populations from the Global Parkinson's Genetics Program, we aimed to identify novel regions of homozygosity contributing to PD heritability." . _:2bd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GP2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12150; , ; ; "GCST90091054"; "A case-control collection of self-reported African American children and adults with physician-diagnosed asthma and non-asthmatic controls from the Baltimore–Washington, DC metropolitan area, brought together by the Genomic Research on Asthma in the African Diaspora consortium from eight NIH-funded asthma studies and one study of healthy African Americans, to study genetic contributions to asthma and its disparities in people of African descent."; 464; 471; 935; "GRAAD", "Genomic Research on Asthma in the African Diaspora study"; ; rdfs:label "Genomic Research on Asthma in the African Diaspora"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12150 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12150; "asthma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3606015/unicode"; rdfs:comment "These subjects comprised the consortium for ‘Genomic Research on Asthma in the African Diaspora’ (GRAAD) and represent eight separate, NIH-funded studies of asthma in pediatric and adult African American populations, plus one study on healthy African Americans." . _:2bd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S009167492101397X-mmc1.pdf"; rdfs:comment "We note that the Amish, FHS, CAG and GRAAD are US-based studies; the Amish is a European descent population isolate [1], the FHS study recruited participants of European descent [5], and the CAG and GRAAD studies recruited African American individuals [2]." . _:2bda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90091054"; "Multiethnic genome-wide and HLA association study of total serum IgE level."; "PMID:34536413", "https://ars.els-cdn.com/content/image/1-s2.0-S009167492101397X-mmc1.pdf"; rdfs:comment "the Genomic Research on Asthma in the African Diaspora (GRAAD) consortium that recruited African American children and adults from the Baltimore-Washington DC metropolitan area [10]" . _:2bdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of self-reported African American children and adults with physician-diagnosed asthma and non-asthmatic controls from the Baltimore–Washington, DC metropolitan area, brought together by the Genomic Research on Asthma in the African Diaspora consortium from eight NIH-funded asthma studies and one study of healthy African Americans, to study genetic contributions to asthma and its disparities in people of African descent."; "PMID:19910028", "PMID:30787307", "PMID:34536413"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 464; "African American asthma cases and non-asthmatic controls in the GRAAD GWAS (after QC), 2009"; "PMID:19910028"; rdfs:comment "We performed a genome-wide association study in 2 independent populations of African ancestry (935 African American asthmatic cases and control subjects from the Baltimore-Washington, DC, area and 929 African Caribbean asthmatic subjects and their family members from Barbados) to identify single-nucleotide polymorphisms (SNPs) associated with asthma." . _:2bdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 471; "African American asthma cases and non-asthmatic controls in the GRAAD GWAS (after QC), 2009"; "PMID:19910028"; rdfs:comment "We performed a genome-wide association study in 2 independent populations of African ancestry (935 African American asthmatic cases and control subjects from the Baltimore-Washington, DC, area and 929 African Caribbean asthmatic subjects and their family members from Barbados) to identify single-nucleotide polymorphisms (SNPs) associated with asthma." . _:2bde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 935; "African American asthma cases and non-asthmatic controls in the GRAAD GWAS (after QC), 2009"; "PMID:19910028"; rdfs:comment "We performed a genome-wide association study in 2 independent populations of African ancestry (935 African American asthmatic cases and control subjects from the Baltimore-Washington, DC, area and 929 African Caribbean asthmatic subjects and their family members from Barbados) to identify single-nucleotide polymorphisms (SNPs) associated with asthma." . _:2bdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRAAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12159, _:genid-371333f489424440b12a13b9d98ced822608-genid12161; , ; "GCST90310240"; "A multicentre observational study in the United States, solicited by the National Heart, Lung, and Blood Institute and run by a genomics and informatics centre with several clinical centres, that enrolled adults with sarcoidosis across defined clinical phenotypes and adults over 35 with the PiZZ or PiMZ alpha-1 antitrypsin genotypes, with questionnaires, chest CT, lung function tests, bronchoalveolar lavage and blood samples, to study the role of the lung microbiome and genome-wide gene expression in the two diseases."; 368; "GRADS", "Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis study"; ; rdfs:label "Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12159 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12161 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2be02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12159; "alpha-1 antitrypsin deficiency"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26193069+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study is an observational cohort study designed to explore the role of the lung microbiome and genome in these two diseases." . _:2be12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12161; "sarcoidosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26193069+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study is an observational cohort study designed to explore the role of the lung microbiome and genome in these two diseases." . _:2be22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9267453/fullTextXML"; rdfs:comment "GRADS recruited 368 patients with sarcoidosis from 9 sarcoidosis centers across the United States [27]." . _:2be32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90310240"; "Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility."; "PMID:37399103", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10407706/"; rdfs:comment "DNA samples from sarcoidosis cases and controls were obtained from National Jewish Health (NJH), University of California, San Francisco, Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) consortium (17) and Cleveland Clinic Foundation." . _:2be42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre observational study in the United States, solicited by the National Heart, Lung, and Blood Institute and run by a genomics and informatics centre with several clinical centres, that enrolled adults with sarcoidosis across defined clinical phenotypes and adults over 35 with the PiZZ or PiMZ alpha-1 antitrypsin genotypes, with questionnaires, chest CT, lung function tests, bronchoalveolar lavage and blood samples, to study the role of the lung microbiome and genome-wide gene expression in the two diseases."; "PMID:26153726", "PMID:26193069", "PMID:35806883"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2be52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 368; "sarcoidosis patients recruited (sarcoidosis arm only; alpha-1 arm not counted), 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9267453/fullTextXML"; rdfs:comment "GRADS recruited 368 patients with sarcoidosis from 9 sarcoidosis centers across the United States [27]." . _:2be62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRADS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12168, _:genid-371333f489424440b12a13b9d98ced822608-genid12170; , ; ; "GCST90824165"; "A collection of DNA samples, established in France in 1995, from HIV-1-infected people of European descent living in France with extreme courses of infection: long-term non-progressors (infected for more than eight years with CD4 T-cell counts above 500/mm3 and no symptoms) and rapid progressors. It is used to identify host genes associated with slow and rapid progression to AIDS, with genetic analyses comparing its members with seronegative French controls from another study."; "GRIV", "Genetics of Resistance to Immunodeficiency Virus"; ; rdfs:label "Genomics of Resistance to Immunodeficiency Virus"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12168 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2be72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12168; "HIV-1 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10749428/fullTextXML"; rdfs:comment "The GRIV cohort was collected in France based on the LTNP phenotype, defined as documented infection for more than 8 years, maintaining a T lymphocyte count above 500/mm3, and no clinical symptoms (29)." . _:2be82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12170; "AIDS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10749428/fullTextXML"; rdfs:comment "The GRIV cohort was collected in France based on the LTNP phenotype, defined as documented infection for more than 8 years, maintaining a T lymphocyte count above 500/mm3, and no clinical symptoms (29)." . _:2be92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21811574+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "However, three independent SNPs in the top ten associations between SNP genotypes and time between seroconversion and AIDS-diagnosis, and one from the top ten associations between SNP genotypes and time between seroconversion and AIDS-related death, had P-values smaller than 0.05 in the French Genomics of Resistance to Immunodeficiency Virus cohort on disease progression." . _:2bea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90824165"; "Multiancestry Genome-Wide Association Study Identifies Variants in a Zinc Finger Gene Cluster as Novel Regulators of HIV Control."; "PMID:41640362" . _:2beb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples, established in France in 1995, from HIV-1-infected people of European descent living in France with extreme courses of infection: long-term non-progressors (infected for more than eight years with CD4 T-cell counts above 500/mm3 and no symptoms) and rapid progressors. It is used to identify host genes associated with slow and rapid progression to AIDS, with genetic analyses comparing its members with seronegative French controls from another study."; "PMID:21750674", "PMID:26367535", "PMID:38146367"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRIV"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12176, _:genid-371333f489424440b12a13b9d98ced822608-genid12178, _:genid-371333f489424440b12a13b9d98ced822608-genid12180; , , ; "GCST90319888"; "A longitudinal twin study in Guangzhou, China, that from 2006 enrolled twin pairs aged 7 to 15 years from the population-based Guangzhou Twin Registry, living near the Zhongshan Ophthalmic Center, together with some of their parents or siblings. It collected DNA and baseline eye measurements, then examined the twins annually until 2018 for progressive traits such as cycloplegic refraction, axial length, height and weight, to study the genetic and environmental causes of common eye diseases, particularly myopia."; "GTES", "Guangzhou Twins Eye Study", "Guangzhou twin eye study"; ; rdfs:label "Guangzhou Twin Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12176 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12178 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12180 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12176; "myopia"; "https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/guangzhou-twin-eye-study-2019-update/90C6A3D2A49870EAE5B24D73E37F1263"; rdfs:comment "The major aim of this young twin study is to explore the etiology of common eye diseases, particularly myopia and glaucoma." . _:2bee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12178; "glaucoma"; "https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/guangzhou-twin-eye-study-2019-update/90C6A3D2A49870EAE5B24D73E37F1263"; rdfs:comment "The major aim of this young twin study is to explore the etiology of common eye diseases, particularly myopia and glaucoma." . _:2bef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12180; "eye diseases"; "https://www.cambridge.org/core/journals/twin-research-and-human-genetics/article/guangzhou-twin-eye-study-2019-update/90C6A3D2A49870EAE5B24D73E37F1263"; rdfs:comment "The major aim of this young twin study is to explore the etiology of common eye diseases, particularly myopia and glaucoma." . _:2bf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5118713/fullTextXML"; rdfs:comment "The Guangzhou Twins Eye Study (GTES) is a longitudinal study including over 1200 pairs of twins and their parents or siblings living in Guangzhou, China" . _:2bf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319888"; "Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations."; "PMID:37524447", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37524447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study meta-analysis was conducted in totalling 2644 Chinese individuals from 3 cohorts: the Guangzhou cohort (GZ, 537 high myopes and 151 hyperopes), Wenzhou cohort (334 high myopes and 6 hyperopes) and Guangzhou Twin Eye Study (1051 participants with normally distributed AL)." . _:2bf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal twin study in Guangzhou, China, that from 2006 enrolled twin pairs aged 7 to 15 years from the population-based Guangzhou Twin Registry, living near the Zhongshan Ophthalmic Center, together with some of their parents or siblings. It collected DNA and baseline eye measurements, then examined the twins annually until 2018 for progressive traits such as cycloplegic refraction, axial length, height and weight, to study the genetic and environmental causes of common eye diseases, particularly myopia."; "PMID:17254403", "PMID:23186635", "PMID:32014069", "PMID:41117591"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12186, _:genid-371333f489424440b12a13b9d98ced822608-genid12188; , , ; "GCST90319888"; "A cohort of high myopes and hyperopes recruited in Guangzhou, China, one of three Chinese cohorts combined in a genome-wide association meta-analysis of ocular axial length."; "The acronym Guangzhou also denotes Guangzhou Colorectal Cancer Study (COHO:0001349); this term is Guangzhou cohort."@en; "GZ", "Guangzhou"; ; rdfs:label "Guangzhou cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12186 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12188 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12186; "high myopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37524447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study meta-analysis was conducted in totalling 2644 Chinese individuals from 3 cohorts: the Guangzhou cohort (GZ, 537 high myopes and 151 hyperopes), Wenzhou cohort (334 high myopes and 6 hyperopes) and Guangzhou Twin Eye Study (1051 participants with normally distributed AL)." . _:2bf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12188; "hyperopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37524447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study meta-analysis was conducted in totalling 2644 Chinese individuals from 3 cohorts: the Guangzhou cohort (GZ, 537 high myopes and 151 hyperopes), Wenzhou cohort (334 high myopes and 6 hyperopes) and Guangzhou Twin Eye Study (1051 participants with normally distributed AL)." . _:2bf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37524447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study meta-analysis was conducted in totalling 2644 Chinese individuals from 3 cohorts: the Guangzhou cohort (GZ, 537 high myopes and 151 hyperopes), Wenzhou cohort (334 high myopes and 6 hyperopes) and Guangzhou Twin Eye Study (1051 participants with normally distributed AL)." . _:2bf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319888"; "Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations."; "PMID:37524447", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37524447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study meta-analysis was conducted in totalling 2644 Chinese individuals from 3 cohorts: the Guangzhou cohort (GZ, 537 high myopes and 151 hyperopes), Wenzhou cohort (334 high myopes and 6 hyperopes) and Guangzhou Twin Eye Study (1051 participants with normally distributed AL)." . _:2bf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of high myopes and hyperopes recruited in Guangzhou, China, one of three Chinese cohorts combined in a genome-wide association meta-analysis of ocular axial length."; "PMID:37524447"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:2bf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GZ"; . _:2bfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Guangzhou"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12195; , , ; ; "GCST002454"; "A hospital-based case-control study of colorectal cancer in Guangzhou, China. Its cases are patients with histopathologically confirmed colorectal cancer recruited at Sun Yat-sen University Cancer Center between 2002 and 2012, and its controls are cancer-free men and women recruited in the same period from the physical examination centres of several large hospitals in Guangdong. Its four case-control collections (Guangzhou-1 to Guangzhou-4) were genotyped for genome-wide association studies of colorectal cancer in East Asians."; "The acronym Guangzhou also denotes Guangzhou cohort (COHO:0001348); this term is Guangzhou Colorectal Cancer Study."@en; 3197; 3424; "Asian Consortium, Colorectal Cancer Guangzhou", "Guangzhou", "Guangzhou CRC Study"; ; rdfs:label "Guangzhou Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12195 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2bfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12195; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "Cases were histopathologically confirmed patients with CRC recruited from Sun Yat-Sen University Cancer Center between January 2002 and January 2012 and controls were cancer-free men and women recruited from the physical examination centers of several large hospitals in Guangdong during the same time period." . _:2bfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "Cases were histopathologically confirmed patients with CRC recruited from Sun Yat-Sen University Cancer Center between January 2002 and January 2012 and controls were cancer-free men and women recruited from the physical examination centers of several large hospitals in Guangdong during the same time period." . _:2bfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST002454"; "Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk."; "PMID:24836286", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4068797/unicode"; rdfs:comment "Specifically, stage 1 (GWAS discovery) consisted of five studies: Shanghai CRC Study 1 (Shanghai-1, n = 3,102), Shanghai CRC Study 2 (Shanghai-2, n = 908), Guangzhou CRC Study 1 (Guangzhou-1, n = 1,603), Aichi CRC Study 1 (Aichi-1, n =1,346), and Korean Cancer Prevention Study-II CRC (KCPS-II, n = 1,301)." . _:2bfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of colorectal cancer in Guangzhou, China. Its cases are patients with histopathologically confirmed colorectal cancer recruited at Sun Yat-sen University Cancer Center between 2002 and 2012, and its controls are cancer-free men and women recruited in the same period from the physical examination centres of several large hospitals in Guangdong. Its four case-control collections (Guangzhou-1 to Guangzhou-4) were genotyped for genome-wide association studies of colorectal cancer in East Asians."; "PMID:23263487", "PMID:24836286", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2bff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3197; "cases and controls from the four Guangzhou collections contributed to the 2014 Asia CRC Consortium GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The four Guangzhou studies contributed a total of 3,197 cases and 3,424 controls to this project." . _:2c002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3424; "cases and controls from the four Guangzhou collections contributed to the 2014 Asia CRC Consortium GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The four Guangzhou studies contributed a total of 3,197 cases and 3,424 controls to this project." . _:2c012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Guangzhou"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12203, _:genid-371333f489424440b12a13b9d98ced822608-genid12205; , ; ; "GCST90269914"; "A multicentre longitudinal study, established in 1988 at 14 hemophilia treatment centres in the United States, of boys and young men aged 6 to 19 years with moderate to severe hemophilia, HIV-infected through clotting factor concentrates or HIV-uninfected, with their non-hemophiliac, HIV-uninfected male siblings as a comparison group, followed until 1996/97 to study the impact of HIV on physical growth and sexual maturation, immune function, and neurological and neuropsychological functioning."; 333; "HGDS"; ; rdfs:label "Hemophilia Growth and Development Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12203 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12205 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12203; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8498644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Sixty-nine percent (n = 333) of a population of males between the ages of 6 and 19 years with moderate to severe hemophilia participated in a comprehensive baseline examination." . _:2c032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12205; "hemophilia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8498644+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Sixty-nine percent (n = 333) of a population of males between the ages of 6 and 19 years with moderate to severe hemophilia participated in a comprehensive baseline examination." . _:2c042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "Data were prospectively collected in 14 U.S. hemophilia treatment centers through 1996/97." . _:2c052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269914"; "Africa-specific human genetic variation near CHD1L associates with HIV-1 load."; "PMID:37532928", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The HGDS is a multicenter study of hemophilia and its complications that was established in 1988." . _:2c062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre longitudinal study, established in 1988 at 14 hemophilia treatment centres in the United States, of boys and young men aged 6 to 19 years with moderate to severe hemophilia, HIV-infected through clotting factor concentrates or HIV-uninfected, with their non-hemophiliac, HIV-uninfected male siblings as a comparison group, followed until 1996/97 to study the impact of HIV on physical growth and sexual maturation, immune function, and neurological and neuropsychological functioning."; "PMID:11075607", "PMID:37532928", "PMID:8498644"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 333; "boys and young men with hemophilia enrolled (siblings not counted)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-023-06370-4/MediaObjects/41586_2023_6370_MOESM1_ESM.pdf"; rdfs:comment "A total of 333 children and adolescents were enrolled." . _:2c082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HGDS"; . a owl:NamedIndividual, ; , ; ; "GCST90832977"; "A population-based health study of residents of Hordaland County in Western Norway, begun in 1992-93 as the Hordaland Homocysteine Study by the Norwegian Health Screening Service, the University of Bergen and the Municipal Health Service in Hordaland, which invited residents by year of birth and place of residence, re-examined part of them together with further birth cohorts in 1997-99, and since 2018 has re-examined those born in 1950-51 who took part in both surveys, to study chronic diseases such as cardiovascular disease, cancer, osteoporosis, anxiety and depression and their prevention."; 36000; "HHS", "HUSK", "Helseundersøkelsen i Hordaland", "Helseundersøkelsene i Hordaland", "Hordaland Health Studies"; ; rdfs:label "Hordaland Health Study"@en . _:2c092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11053069/fullTextXML"; rdfs:comment "The Hordaland Health Study (HUSK) is a community-based study in Western Norway conducted as a collaboration between the University of Bergen, the Norwegian Health Screening Service and the Municipal Health Service in Hordaland (https://husk-en.w.uib.no/)53." . _:2c0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90832977"; "GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis."; "PMID:38671141", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11053069/fullTextXML"; rdfs:comment "The Hordaland Health Study (HUSK) is a community-based study in Western Norway conducted as a collaboration between the University of Bergen, the Norwegian Health Screening Service and the Municipal Health Service in Hordaland (https://husk-en.w.uib.no/)53." . _:2c0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based health study of residents of Hordaland County in Western Norway, begun in 1992-93 as the Hordaland Homocysteine Study by the Norwegian Health Screening Service, the University of Bergen and the Municipal Health Service in Hordaland, which invited residents by year of birth and place of residence, re-examined part of them together with further birth cohorts in 1997-99, and since 2018 has re-examined those born in 1950-51 who took part in both surveys, to study chronic diseases such as cardiovascular disease, cancer, osteoporosis, anxiety and depression and their prevention."; "PMID:38671141", "http://husk.w.uib.no", "https://husk-en.w.uib.no/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 36000; "residents who took part in HUSK1 (1992/93) and/or HUSK2 (1997/99), approximate (1999)"; "https://husk-en.w.uib.no/"; rdfs:comment "Approximately 36,000 residents of Hordaland county participated in the studies, ca. 18,000 in 1992/93 and ca. 26,000 in 1997/99." . _:2c0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHS"; . _:2c0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUSK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12218, _:genid-371333f489424440b12a13b9d98ced822608-genid12220, _:genid-371333f489424440b12a13b9d98ced822608-genid12222, _:genid-371333f489424440b12a13b9d98ced822608-genid12224, _:genid-371333f489424440b12a13b9d98ced822608-genid12226; , , ; "GCST90566418"; "A population-based cohort study of eye conditions, run by the Chinese University of Hong Kong since 2015, that recruits ethnic Chinese children aged 6 to 8 years from randomly selected primary schools across Hong Kong, together with their parents, and follows the children up, to determine the occurrence and development of refractive errors, strabismus, amblyopia and other eye disorders and their environmental and genetic determinants."; 17124; "HKCES"; ; rdfs:label "Hong Kong Children Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12218 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12220 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12222 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12224 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12226 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12218; "amblyopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257606/fullTextXML"; rdfs:comment "The HKCES was designed to determine the occurrence and development of eye disorders, including refractive errors, strabismus, amblyopia, and allergic disease, and to identify their environmental and genetic determinants11–13." . _:2c102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12220; "strabismus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257606/fullTextXML"; rdfs:comment "The HKCES was designed to determine the occurrence and development of eye disorders, including refractive errors, strabismus, amblyopia, and allergic disease, and to identify their environmental and genetic determinants11–13." . _:2c112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12222; "refractive errors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257606/fullTextXML"; rdfs:comment "The HKCES was designed to determine the occurrence and development of eye disorders, including refractive errors, strabismus, amblyopia, and allergic disease, and to identify their environmental and genetic determinants11–13." . _:2c122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12224; "allergic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257606/fullTextXML"; rdfs:comment "The HKCES was designed to determine the occurrence and development of eye disorders, including refractive errors, strabismus, amblyopia, and allergic disease, and to identify their environmental and genetic determinants11–13." . _:2c132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12226; "eye disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8257606/fullTextXML"; rdfs:comment "The HKCES was designed to determine the occurrence and development of eye disorders, including refractive errors, strabismus, amblyopia, and allergic disease, and to identify their environmental and genetic determinants11–13." . _:2c142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9856878/fullTextXML"; rdfs:comment "Participants for this cross-sectional study were recruited from the Hong Kong Children Eye Study, an ongoing population-based cohort study on eye conditions in children aged 6 to 8 years recruited from primary schools in Hong Kong." . _:2c152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90566418"; "Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children."; "PMID:40410244", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40410244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify novel genetic loci for children refractive error, we performed a meta-analysis of two genome-wide association studies (GWASs) of spherical equivalent (SE) in 1,237 children from the population-based Hong Kong Children Eye Study (HKCES) and the Low Concentration Atropine for Myopia Progression (LAMP) study." . _:2c162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of eye conditions, run by the Chinese University of Hong Kong since 2015, that recruits ethnic Chinese children aged 6 to 8 years from randomly selected primary schools across Hong Kong, together with their parents, and follows the children up, to determine the occurrence and development of refractive errors, strabismus, amblyopia and other eye disorders and their environmental and genetic determinants."; "PMID:31981300", "PMID:34226578", "PMID:36542383", "PMID:40410244"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17124; "children and parents examined in 5708 complete child-parent trios (trio subset)"; "PMID:36542383"; rdfs:comment "A total of 17 124 participants from 5708 trios (2964 boys and 2754 girls) at a mean (SD) age of 7.32 (0.87) years, and 11 416 parents were examined." . _:2c182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKCES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12233; , , ; "GCST90281031"; "A multicentre prospective cohort and biobank of adults with diabetes, started in 2014 and coordinated by the Chinese University of Hong Kong, which enrols people attending routine diabetes complication assessment at the diabetes centres of major public hospitals across Hong Kong, with the assessment methods of the Hong Kong Diabetes Register, and follows them for diabetes-related outcomes, to serve as a territory-wide diabetes register and biobank for epidemiological research and for the discovery and replication of genetic, epigenetic and other biomarkers of diabetes and its complications."; 20000; "HKDB"; ; rdfs:label "Hong Kong Diabetes Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12233 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12233; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39508878+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "NT-proBNP was measured in 1993 samples from the Hong Kong Diabetes Biobank, a multicentre prospective diabetes cohort and biobank." . _:2c1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10234754/fullTextXML"; rdfs:comment "All patients in the above three cohorts were southern Han Chinese residing in Hong Kong." . _:2c1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90281031"; "Identification of a Common Variant for Coronary Heart Disease at PDE1A Contributes to Individualized Treatment Goals and Risk Stratification of Cardiovascular Complications in Chinese Patients With Type 2 Diabetes."; "PMID:37125963", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10234754/fullTextXML"; rdfs:comment "In the stage of genome-wide scan, we performed a meta-analysis in two independent case-control cohorts of Chinese patients with T2D: 1) 4,886 patients (1,358 case and 3,528 control subjects) from the Hong Kong Diabetes Register (HKDR) (recruitment period 1995–2014) and 2) 4,055 patients (1,159 case and 2,896 control subjects) recruited in 2013–2019 from the Hong Kong Diabetes Biobank (HKDB) phase 1 study (16)." . _:2c1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort and biobank of adults with diabetes, started in 2014 and coordinated by the Chinese University of Hong Kong, which enrols people attending routine diabetes complication assessment at the diabetes centres of major public hospitals across Hong Kong, with the assessment methods of the Hong Kong Diabetes Register, and follows them for diabetes-related outcomes, to serve as a territory-wide diabetes register and biobank for epidemiological research and for the discovery and replication of genetic, epigenetic and other biomarkers of diabetes and its complications."; "PMID:32722720", "PMID:39508878", "https://clinicaltrials.gov/api/v2/studies/NCT05282680"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "people with diabetes enrolled 2014-2019 (stated as 'more than 20,000', a lower bound)"; "PMID:39508878"; rdfs:comment "Over the period from 2014 to 2019, the study consecutively enrolled more than 20,000 individuals with diabetes." . _:2c1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKDB"; . a owl:NamedIndividual, ; , , ; "GCST90704613"; "A newly established community-based prospective cohort in Zhejiang Province, China, which since June 2021 has been enrolling participants from urban and rural areas at several project sites, among them people attending routine physical examinations, and collecting blood and serum at enrolment."; "The acronym HOPE also denotes Hormones and Ovarian Cancer Prediction Study (COHO:0001872); this term is Healthy Zhejiang One Million People Cohort."@en; 100000; "HOPE", "HOPE Cohort", "HOPE_Zhejiang", "Healthy Zhejiang One Million Cohort"; ; rdfs:label "Healthy Zhejiang One Million People Cohort"@en . _:2c1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12561000/fullTextXML"; rdfs:comment "The HOPE Cohort is a newly established community-based prospective cohort enrolling participants from both urban and rural areas in Zhejiang Province, China." . _:2c202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90704613"; "Whole-genome Sequence Analysis Revealed Novel Subjective Cognitive Decline-associated Genes in 10,763 Chinese."; "PMID:40728933", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40728933+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To address this gap, we investigated genetic biomarkers associated with SCD using whole-genome sequencing (WGS) in 10,763 Chinese participants from the Healthy Zhejiang One Million People Cohort (HOPE Cohort)." . _:2c212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A newly established community-based prospective cohort in Zhejiang Province, China, which since June 2021 has been enrolling participants from urban and rural areas at several project sites, among them people attending routine physical examinations, and collecting blood and serum at enrolment."; "PMID:40728933", "PMID:42324270"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100000; "participants recruited June 2021 to July 2024 (stated as 'over 100,000', a lower bound)"; "PMID:40728933"; rdfs:comment "It has recruited over 100,000 participants from June 2021 to July 2024." . _:2c232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOPE"; . _:2c242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOPE_Zhejiang"; . a owl:NamedIndividual, ; ; , , ; "GCST90502919"; "A retrospective, population-based cohort of Koreans who had health check-ups at the Healthcare System Gangnam Center of Seoul National University Hospital in Seoul, South Korea, from October 2003, with repeated check-up data, advanced diagnostic imaging and record linkage for cancer and death, designed to investigate the association of diagnostic imaging results and biomarkers with the predisease stage of non-communicable diseases such as cancers and metabolic diseases in an average-risk population."; 91336; "H-PEACE", "Health and Prevention Enhancement cohort", "Health and Prevention Enhancement study"; ; rdfs:label "Health and Prevention Enhancement"@en . _:2c252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5914782/fullTextXML"; rdfs:comment "The Health and Prevention Enhancement (H-PEACE) study was designed to investigate the association of diagnostic imaging results, biomarkers and the predisease stage of non-communicable diseases (NCDs), such as malignancies and metabolic diseases, in an average-risk population in Korea." . _:2c262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502919"; "Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population."; "PMID:38320993", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10847124/fullTextXML"; rdfs:comment "In the study of discovery stage, the H-PEACE and GENIE cohorts were used." . _:2c272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retrospective, population-based cohort of Koreans who had health check-ups at the Healthcare System Gangnam Center of Seoul National University Hospital in Seoul, South Korea, from October 2003, with repeated check-up data, advanced diagnostic imaging and record linkage for cancer and death, designed to investigate the association of diagnostic imaging results and biomarkers with the predisease stage of non-communicable diseases such as cancers and metabolic diseases in an average-risk population."; "PMID:29674364"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 91336; "health examinees with a check-up October 2003 to December 2014"; "PMID:29674364"; rdfs:comment "The H-PEACE study collected data from 91 336 Koreans aged 45.5±11.7 years (50 507 men and 40 829 women) who received a health check-up between October 2003 and December 2014 at the SNUH Gangnam Center (IRB no." . _:2c292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "H-PEACE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12251; , ; "GCST90104595"; "A population-based survey of Caucasian adults aged 40 years or older, randomly selected in 2006 from the patient lists of randomly chosen general practitioners in four areas of the Veneto region (Verona, Padova and Venice) in north-eastern Italy, with centralised laboratory measurement of kidney function and albuminuria, set up at the University of Verona to determine the prevalence of chronic kidney disease and its risk factors; two subsets of its participants were genotyped for genetic studies."; 3870; "INCIPE", "INCIPE (NE Italy CKD and Nephropathy Study)", "INCIPE study", "Initiative on Nephropathy, of relevance to public health, which is Chronic, possibly in its Initial stages, and carries a Potential risk of major clinical Endpoints"; ; rdfs:label "Initiative on Nephropathy, of relevance to public health, which is Chronic, possibly in its Initial stages, and carries a Potential risk of major clinical End-points"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12251 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12251; "chronic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9972819/fullTextXML"; rdfs:comment "INCIPE is a general, Caucasian-only population cohort that was enrolled in 2006 to determine the prevalence of chronic kidney disease (CKD) in North-Eastern Italy [10]." . _:2c2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9972819/fullTextXML"; rdfs:comment "INCIPE is a general, Caucasian-only population cohort that was enrolled in 2006 to determine the prevalence of chronic kidney disease (CKD) in North-Eastern Italy" . _:2c2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104595"; "Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms."; "PMID:35331647" . _:2c2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based survey of Caucasian adults aged 40 years or older, randomly selected in 2006 from the patient lists of randomly chosen general practitioners in four areas of the Veneto region (Verona, Padova and Venice) in north-eastern Italy, with centralised laboratory measurement of kidney function and albuminuria, set up at the University of Verona to determine the prevalence of chronic kidney disease and its risk factors; two subsets of its participants were genotyped for genetic studies."; "PMID:20813860", "PMID:21711121", "PMID:36865011"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3870; "adults enrolled in 2006 (62% of the 6200 randomly selected)"; "https://europepmc.org/api/getPdf?pmcid=PMC3001778"; rdfs:comment "Results In the INCIPE study, 3870 (62% of the randomized sample) subjects were enrolled." . _:2c2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INCIPE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12258; , , , , , ; "GCST90101764"; "A continually recruiting collection of people with clinically ascertained developmental stuttering, assembled by the International Stuttering Project, a collaboration of researchers and clinicians in the United States, Australia and Ireland formed in 2020 to illuminate the genetic aetiology of stuttering, which recruits through stuttering clinics, research laboratories and stuttering associations in these countries and online and genotypes its participants at Vanderbilt University Medical Center."; 1345; "ISP"; ; rdfs:label "International Stuttering Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12258 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12258; "developmental stuttering"; "https://www.theinternationalstutteringproject.com/"; rdfs:comment "Formed in 2020, the ISP continues to collate global outbred populations of people who stutter, specifically to illuminate genetic etiology and broaden investigations of its diverse and variable phenotype." . _:2c312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8756529/fullTextXML"; rdfs:comment "We greatly thank every individual who donated DNA to this project in Ireland, Australia, and the United States." . _:2c322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90101764"; "Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering."; "PMID:34861174", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8715184/fullTextXML"; rdfs:comment "We validated these results by comparing the concordance of our GWAS summary statistics to the GWAS results obtained from an independent clinically ascertained stuttering sample set acquired through the International Stuttering Project (ISP) and the polygenic-risk-prediction scores in the clinically ascertained cases versus matched population-based controls." . _:2c332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A continually recruiting collection of people with clinically ascertained developmental stuttering, assembled by the International Stuttering Project, a collaboration of researchers and clinicians in the United States, Australia and Ireland formed in 2020 to illuminate the genetic aetiology of stuttering, which recruits through stuttering clinics, research laboratories and stuttering associations in these countries and online and genotypes its participants at Vanderbilt University Medical Center."; "PMID:34861174", "PMID:35047858", "https://www.theinternationalstutteringproject.com/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1345; "clinically ascertained people who stutter in the collection used for the 2022 GWAS"; "PMID:35047858"; rdfs:comment "The ISP comprises 1,345 clinically ascertained developmental stuttering cases collected from the Curtin Stuttering Treatment Clinic in Perth, Australia; the SpeechMatters Clinic and the Irish Stammering Association, in Dublin, Ireland; the National Stuttering Association, USA; online recruitment on reddit.com; and Dr." . _:2c352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12265, _:genid-371333f489424440b12a13b9d98ced822608-genid12267, _:genid-371333f489424440b12a13b9d98ced822608-genid12269, _:genid-371333f489424440b12a13b9d98ced822608-genid12271, _:genid-371333f489424440b12a13b9d98ced822608-genid12273, _:genid-371333f489424440b12a13b9d98ced822608-genid12275; , , , , , , ; , ; "GCST90132186"; "A standardised case-control study of first acute myocardial infarction, which from February 1999 to March 2003 enrolled patients presenting to hospital with a first myocardial infarction and age- and sex-matched hospital- or community-based controls without heart disease at 262 centres in 52 countries on every inhabited continent, to establish the importance of modifiable and psychosocial risk factors for myocardial infarction in all regions of the world."; 15152; 14820; "A Global Study of Risk Factors for Acute Myocardial Infarction", "INTERHEART", "INTERHEART Study", "ITH"; ; rdfs:label "INTERHEART study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12265 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12267 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12269 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12271 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12273 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12275 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12265; "acute myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364185+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established a standardised case-control study of acute myocardial infarction in 52 countries, representing every inhabited continent." . _:2c372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12267; "consumption of alcohol"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364185+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The relation of smoking, history of hypertension or diabetes, waist/hip ratio, dietary patterns, physical activity, consumption of alcohol, blood apolipoproteins (Apo), and psychosocial factors to myocardial infarction are reported here." . _:2c382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12269; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364185+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The relation of smoking, history of hypertension or diabetes, waist/hip ratio, dietary patterns, physical activity, consumption of alcohol, blood apolipoproteins (Apo), and psychosocial factors to myocardial infarction are reported here." . _:2c392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12271; "dietary patterns"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364185+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The relation of smoking, history of hypertension or diabetes, waist/hip ratio, dietary patterns, physical activity, consumption of alcohol, blood apolipoproteins (Apo), and psychosocial factors to myocardial infarction are reported here." . _:2c3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12273; "psychosocial factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364185+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The relation of smoking, history of hypertension or diabetes, waist/hip ratio, dietary patterns, physical activity, consumption of alcohol, blood apolipoproteins (Apo), and psychosocial factors to myocardial infarction are reported here." . _:2c3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12275; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364185+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The relation of smoking, history of hypertension or diabetes, waist/hip ratio, dietary patterns, physical activity, consumption of alcohol, blood apolipoproteins (Apo), and psychosocial factors to myocardial infarction are reported here." . _:2c3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15364186+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used a case-control design with 11119 patients with a first myocardial infarction and 13648 age-matched (up to 5 years older or younger) and sex-matched controls from 262 centres in Asia, Europe, the Middle East, Africa, Australia, and North and South America." . _:2c3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132186"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "INTERHEART (INTERHEART) was funded by: the Canadian Institutes of Health Research, the Heart and Stroke Foundation of Ontario, and the International Clinical Epidemiology Network (INCLEN)" . _:2c3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A standardised case-control study of first acute myocardial infarction, which from February 1999 to March 2003 enrolled patients presenting to hospital with a first myocardial infarction and age- and sex-matched hospital- or community-based controls without heart disease at 262 centres in 52 countries on every inhabited continent, to establish the importance of modifiable and psychosocial risk factors for myocardial infarction in all regions of the world."; "PMID:15364185", "PMID:15364186", "PMID:23202125", "PMID:37414411"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15152; "cases of first acute myocardial infarction and controls enrolled 1999-2003"; "PMID:15364185"; rdfs:comment "15152 cases and 14820 controls were enrolled." . _:2c402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14820; "cases of first acute myocardial infarction and controls enrolled 1999-2003"; "PMID:15364185"; rdfs:comment "15152 cases and 14820 controls were enrolled." . _:2c412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTERHEART"; . _:2c422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ITH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12284; , , , , , , , , , , , , , , ; "GCST90454455"; "A consortium established to study the host genetics of tuberculosis through collaborative, equitable data sharing, combining case-control genome-wide association studies from nine countries across Europe, Africa and Asia in a multi-ancestry meta-analysis of tuberculosis susceptibility."; 14153; 19536; "ITHGC"; ; rdfs:label "International Tuberculosis Host Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12284 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12284; "tuberculosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "The ITHGC includes 12 case–control GWAS from nine countries in Europe, Africa, and Asia (total of 14,153 pulmonary TB cases and 19,536 healthy controls)." . _:2c442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "In addition, all institutions involved in the ITHGC have ethics approval for their respective studies: China 1 and 2: The study protocol was approved by the Ethics Committee of the Beijing Chest Hospital, the 309 Hospital of the PLA, Shijiazhuang Fifth Hospital, the China PLA General Hospital, the Tongliao TB institute and the Center for Diseases Control and Prevention in Jalainuoer." . _:2c452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "The Estonian Bioethics and Human Research Council (EBIN) approved the Estonian Genome Center study reported in this manuscript." . _:2c462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "The study protocol was approved by the ethics committee (EC) of the University of Luebeck, Germany (reference 07-125), and was adopted by other ethics committees covering all 18 participating centres" . _:2c472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "Ethics approval was granted by the Committee on Human Research, Publications and Ethics, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana, and the Ethics Committee of the Ghana Health Service, Accra, Ghana." . _:2c482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "We would like to thank all the subjects and the members of the Rotary Club of Osaka-Midosuji District 2660 Rotary International in Japan who donated their DNA for this work." . _:2c492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "Blood samples from all participants were collected and studied with written informed consent according to the Declaration of Helsinki and with approvals from the local ethics committees in Russia (St. Petersburg and Samara)" . _:2c4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "The RSA population is a five-way admixed South African population with genetic contributions from Bantu-speaking African, KhoeSan, European, and South and South East Asian populations" . _:2c4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "Ethics approval was granted by the Ethics Review Committee of the Ministry of Public Health in Thailand." . _:2c4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789494/fullTextXML"; rdfs:comment "Ethics approval was granted by the Medical Research Council (MRC) and the Gambian government joint ethical committee." . _:2c4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454455"; "Multi-ancestry meta-analysis of host genetic susceptibility to tuberculosis identifies shared genetic architecture."; "PMID:38224499", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38224499+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established the International Tuberculosis Host Genetics Consortium to perform a multi-ancestry meta-analysis of GWAS, including 14,153 cases and 19,536 controls of African, Asian, and European ancestry." . _:2c4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium established to study the host genetics of tuberculosis through collaborative, equitable data sharing, combining case-control genome-wide association studies from nine countries across Europe, Africa and Asia in a multi-ancestry meta-analysis of tuberculosis susceptibility."; "PMID:38224499"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:2c4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14153; "pulmonary TB cases and healthy controls in the 12 GWAS of the 2024 multi-ancestry meta-analysis"; "PMID:38224499"; rdfs:comment "The ITHGC includes 12 case–control GWAS from nine countries in Europe, Africa, and Asia (total of 14,153 pulmonary TB cases and 19,536 healthy controls)." . _:2c502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19536; "pulmonary TB cases and healthy controls in the 12 GWAS of the 2024 multi-ancestry meta-analysis"; "PMID:38224499"; rdfs:comment "The ITHGC includes 12 case–control GWAS from nine countries in Europe, Africa, and Asia (total of 14,153 pulmonary TB cases and 19,536 healthy controls)." . _:2c512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ITHGC"; . a owl:NamedIndividual, ; , ; "GCST90454200"; "A collection of 3D facial images, self-reported age, height, weight and ancestry, and DNA from volunteers recruited without restriction on ancestry (minors with a parent's or guardian's consent) in Indianapolis, Indiana and in Twinsburg, Ohio under one Indiana University-Purdue University Indianapolis ethics protocol, with support from the US National Institute of Justice, and genotyped to study the genetics of facial shape and of other visible traits such as head hair shape."; 743; "IUPUI", "IUPUI cohort", "IUPUI dataset", "IUPUI sample", "Indiana University-Purdue University Indianapolis", "US Indiana Study"; ; rdfs:label "Indiana University-Purdue University Indianapolis cohort"@en . _:2c522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7937973/fullTextXML"; rdfs:comment "The United States samples in the EURO dataset originated from the 3D Facial Norms cohort (3DFN) and studies at the Pennsylvania State University (PSU) and Indiana University-Purdue University Indianapolis (IUPUI)." . _:2c532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454200"; "Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population."; "PMID:39622794", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11612227/fullTextXML"; rdfs:comment "The US control dataset (n = 4680) was collected previously and included samples from the 3D Facial Norms cohort and studies at the Pennsylvania State University and Indiana University-Purdue University Indianapolis." . _:2c542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of 3D facial images, self-reported age, height, weight and ancestry, and DNA from volunteers recruited without restriction on ancestry (minors with a parent's or guardian's consent) in Indianapolis, Indiana and in Twinsburg, Ohio under one Indiana University-Purdue University Indianapolis ethics protocol, with support from the US National Institute of Justice, and genotyped to study the genetics of facial shape and of other visible traits such as head hair shape."; "PMID:29220522", "PMID:33288918", "PMID:33692830"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 743; "unrelated volunteers analysed in the 2017 head-hair shape GWAS (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5886212/fullTextXML"; rdfs:comment "US sample consists of 743 unrelated volunteers (498 females, 245 males) recruited in the USA, who were of European (98%), and non-European ancestry (2% South American/South Asian/Middle Eastern)." . _:2c562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IUPUI"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , ; "GCST90454283"; "A consortium of research groups in North and South America, Europe and Asia, formed with the Pharmacogenomics Knowledge Base (PharmGKB) as its data broker, that pools and curates the clinical and genetic data of warfarin-treated patients from its members' centres, to develop and evaluate pharmacogenetic algorithms for estimating the stable warfarin dose and to study the genetic determinants of warfarin dose across populations, including a genome-wide association study of African Americans from its US sites."; 5700; "IWPC"; ; rdfs:label "International Warfarin Pharmacogenetics Consortium"@en . _:2c572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2865873/"; rdfs:comment "Instituto Nacional de Câncer, Brazil" . _:2c582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2722908/"; rdfs:comment "Hadassah Medical Organization, Jerusalem, Israel" . _:2c592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2865873/"; rdfs:comment "University of Tokyo and RIKEN Center for Genomic Medicine, Japan" . _:2c5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2722908/"; rdfs:comment "National University Hospital, Singapore" . _:2c5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2722908/"; rdfs:comment "Inje University, Busan, Korea" . _:2c5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2722908/"; rdfs:comment "Uppsala University, Uppsala, Sweden" . _:2c5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2722908/"; rdfs:comment "Data Contributors — Academic Sinica, Taipei, Taiwan" . _:2c5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2722908/"; rdfs:comment "Newcastle University, Newcastle, United Kingdom" . _:2c5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3759580/fullTextXML"; rdfs:comment "We did a GWAS of two study samples: one from IWPC sites across the USA and one from the University of Alabama at Birmingham (UAB; Birmingham, AL, USA)." . _:2c602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454283"; "Meta-analysis of genome-wide association studies of stable warfarin dose in patients of African ancestry."; "PMID:39163621", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39163621+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We also included 2 African American cohorts recruited by the International Warfarin Pharmacogenetics Consortium (n = 316) and the University of Alabama at Birmingham (n = 199)." . _:2c612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of research groups in North and South America, Europe and Asia, formed with the Pharmacogenomics Knowledge Base (PharmGKB) as its data broker, that pools and curates the clinical and genetic data of warfarin-treated patients from its members' centres, to develop and evaluate pharmacogenetic algorithms for estimating the stable warfarin dose and to study the genetic determinants of warfarin dose across populations, including a genome-wide association study of African Americans from its US sites."; "PMID:18330919", "PMID:19228618", "PMID:20203262", "PMID:23755828"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5700; "warfarin-treated patients pooled for the 2009 dosing-algorithm analysis"; "https://europepmc.org/api/getPdf?pmcid=PMC2722908"; rdfs:comment "The research groups contributed clinical and genetic data for a total of 5700 patients who were treated with warfarin." . _:2c632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IWPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12318; , ; , ; "GCST90104709"; "A breast cancer case-control study in Stockholm, Sweden, whose cases are consecutive breast cancer patients treated at the oncology departments of Huddinge and Söder hospitals from 1998 to 2000 and women with familial breast cancer without BRCA1 or BRCA2 mutations seen at the Department of Clinical Genetics of Karolinska University Hospital from 2000, and whose controls are blood donors from the same region, used to study inherited susceptibility to breast cancer."; 722; 662; "KARBAC", "KARBAC cohort", "KARBAC study"; ; rdfs:label "Karolinska Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12318 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12318; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909613/fullTextXML"; rdfs:comment "We included 3215 invasive breast cancer cases from two Swedish cohorts, KARMA (n = 2712) and KARBAC (n = 503), and controls without family history of breast cancer from KARMA (n = 5032) in the analysis." . _:2c652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909613/fullTextXML"; rdfs:comment "We included 3215 invasive breast cancer cases from two Swedish cohorts, KARMA (n = 2712) and KARBAC (n = 503), and controls without family history of breast cancer from KARMA (n = 5032) in the analysis." . _:2c662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104709"; "A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16."; "PMID:35267517", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909613/fullTextXML"; rdfs:comment "We included 3215 invasive breast cancer cases from two Swedish cohorts, KARMA (n = 2712) and KARBAC (n = 503), and controls without family history of breast cancer from KARMA (n = 5032) in the analysis." . _:2c672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer case-control study in Stockholm, Sweden, whose cases are consecutive breast cancer patients treated at the oncology departments of Huddinge and Söder hospitals from 1998 to 2000 and women with familial breast cancer without BRCA1 or BRCA2 mutations seen at the Department of Clinical Genetics of Karolinska University Hospital from 2000, and whose controls are blood donors from the same region, used to study inherited susceptibility to breast cancer."; "PMID:15345109", "PMID:24943594", "PMID:26082817", "PMID:35267517"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 722; "cases and controls contributed to the BCAC COGS genotyping (table row: controls, cases, ER+, ER-), 2013"; "https://europepmc.org/api/getPdf?pmcid=PMC4204770"; rdfs:comment "Karolinska Breast Cancer Study (KARBAC) Sweden 662 722 338 63" . _:2c692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 662; "cases and controls contributed to the BCAC COGS genotyping (table row: controls, cases, ER+, ER-), 2013"; "https://europepmc.org/api/getPdf?pmcid=PMC4204770"; rdfs:comment "Karolinska Breast Cancer Study (KARBAC) Sweden 662 722 338 63" . _:2c6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KARBAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12326, _:genid-371333f489424440b12a13b9d98ced822608-genid12328, _:genid-371333f489424440b12a13b9d98ced822608-genid12330; , , ; "GCST90319844"; "A hospital-based case-control study of gastric cancer at the National Cancer Center in Goyang, South Korea, that from March 2011 to December 2014 recruited patients recently diagnosed with gastric cancer at its Center for Gastric Cancer as cases and cancer-free people attending health-screening check-ups at its Center for Cancer Prevention and Detection as controls, with lifestyle and food-frequency questionnaires and blood DNA genotyped on an exome array, to study dietary and genetic risk factors for gastric cancer."; "The acronym Korea-NCC also denotes Korea-NCC (National Cancer Center) Colorectal Cancer Study (COHO:0001364); this term is Korea National Cancer Center gastric cancer case-control study."@en; 1727; "Korea-NCC"; ; rdfs:label "Korea National Cancer Center gastric cancer case-control study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12326 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12328 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12330 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12326; "gastric cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902036/fullTextXML"; rdfs:comment "This case-control study was conducted at the Center for Gastric Cancer (CGC) and the Center for Cancer Prevention & Detection (CCPD) of the National Cancer Center (NCC) in Korea between March 2011 and December 2014." . _:2c6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12328; "dietary mercury intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902036/fullTextXML"; rdfs:comment "The dietary antioxidant capacity was estimated based on the oxygen radical absorbance capacity (ORAC) incorporated with a semiquantitative food frequency questionnaire." . _:2c6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12330; "antioxidant-rich diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902036/fullTextXML"; rdfs:comment "The dietary antioxidant capacity was estimated based on the oxygen radical absorbance capacity (ORAC) incorporated with a semiquantitative food frequency questionnaire." . _:2c6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902036/fullTextXML"; rdfs:comment "This case-control study was conducted at the Center for Gastric Cancer (CGC) and the Center for Cancer Prevention & Detection (CCPD) of the National Cancer Center (NCC) in Korea between March 2011 and December 2014." . _:2c6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319844"; "Functional Annotation and Gene Set Analysis of Gastric Cancer Risk Loci in a Korean Population."; "PMID:37340842", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10789951/fullTextXML"; rdfs:comment "For GWAS analysis, genotypes from the National Cancer Center (NCC) and an urban community of the Korean Genome Epidemiology Study (KoGES) were used." . _:2c702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of gastric cancer at the National Cancer Center in Goyang, South Korea, that from March 2011 to December 2014 recruited patients recently diagnosed with gastric cancer at its Center for Gastric Cancer as cases and cancer-free people attending health-screening check-ups at its Center for Cancer Prevention and Detection as controls, with lifestyle and food-frequency questionnaires and blood DNA genotyped on an exome array, to study dietary and genetic risk factors for gastric cancer."; "PMID:33634021", "PMID:37340842", "PMID:38810984"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1727; "participants (cases and controls) enrolled March 2011 to December 2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902036/fullTextXML"; rdfs:comment "Of these initial 1,727 participants who were enrolled in this study, 56 individuals with an incomplete semiquantitative food frequency questionnaire (SQFFQ) and 15 individuals with an implausible total energy intake (< 500 or > 4,000 kcal/day) were excluded." . _:2c722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Korea-NCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12337, _:genid-371333f489424440b12a13b9d98ced822608-genid12339; , , ; ; "PMID:35765848"; "A hospital-based case-control study of colorectal cancer at the National Cancer Center in Goyang, South Korea, whose cases are patients newly diagnosed with colorectal cancer at its Center for Colorectal Cancer from 2010 and whose controls are people attending the national health check-up programme at its Center for Cancer Prevention and Detection, with lifestyle and food-frequency questionnaires and genome-wide genotyping, contributing to the Asia Colorectal Cancer Consortium's studies of genetic susceptibility to colorectal cancer."; "The acronym Korea-NCC also denotes Korea National Cancer Center gastric cancer case-control study (COHO:0001363); this term is Korea-NCC (National Cancer Center) Colorectal Cancer Study."@en; 1780; 18471; "Korea National Cancer Center Study", "Korea-NCC", "Korean-National Cancer Center CRC Study", "Korean-National Cancer Center Study"; rdfs:label "Korea-NCC (National Cancer Center) Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12337 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12339 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12337; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9509464/"; rdfs:comment "Data from the Korean-National Cancer Center CRC Study (Korea validation set: a case-control study including 622 cases and 832 controls)" . _:2c742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12339; "dietary vitamin B2 intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369566/fullTextXML"; rdfs:comment "Dietary vitamin B2 intake was assessed using a semiquantitative food frequency questionnaire, and the association with CRC was evaluated." . _:2c752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369566/fullTextXML"; rdfs:comment "The study participants were recruited from 2 research centers of the National Cancer Center (NCC) of the Korea." . _:2c762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35765848"; "Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians."; "PMID:35765848", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9509464/"; rdfs:comment "Data from the Korean-National Cancer Center CRC Study (Korea validation set: a case-control study including 622 cases and 832 controls) and a case-control study nested in cohorts of the Shanghai Men’s Health Study and Shanghai Women’s Health Study (China validation set: 868 cases and 868 age- and sex-frequency matched controls) were used for model validation." . _:2c772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of colorectal cancer at the National Cancer Center in Goyang, South Korea, whose cases are patients newly diagnosed with colorectal cancer at its Center for Colorectal Cancer from 2010 and whose controls are people attending the national health check-up programme at its Center for Cancer Prevention and Detection, with lifestyle and food-frequency questionnaires and genome-wide genotyping, contributing to the Asia Colorectal Cancer Consortium's studies of genetic susceptibility to colorectal cancer."; "PMID:30529582", "PMID:35765848", "PMID:38514198"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1780; "CRC patients who agreed to take part (Aug 2010 to Sep 2020) and health check-up controls, before exclusions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369566/fullTextXML"; rdfs:comment "Of the 1,780 patients who agreed to participate in this study, 290 participants were excluded due to incomplete data from the semiquantitative food frequency questionnaire (SQFFQ) or general questionnaire, and 13 others were excluded due to implausible energy intake (< 500 or > 4,000 kcal/day)." . _:2c792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18471; "CRC patients who agreed to take part (Aug 2010 to Sep 2020) and health check-up controls, before exclusions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369566/fullTextXML"; rdfs:comment "Of the 1,780 patients who agreed to participate in this study, 290 participants were excluded due to incomplete data from the semiquantitative food frequency questionnaire (SQFFQ) or general questionnaire, and 13 others were excluded due to implausible energy intake (< 500 or > 4,000 kcal/day)." . _:2c7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Korea-NCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12347; , , ; "GCST90566418"; "A randomised, double-masked, placebo-controlled trial at the Chinese University of Hong Kong Eye Centre that from 2016 to 2017 enrolled children aged 4 to 12 with myopia in both eyes, limited astigmatism and documented myopic progression in the previous year, assigned them to nightly 0.05%, 0.025% or 0.01% atropine eye drops or placebo, and followed them in later phases (placebo switched to atropine, re-randomisation to continued treatment or washout, and longer-term follow-up), to evaluate the efficacy and safety of low-concentration atropine for slowing myopia progression."; 438; "LAMP", "LAMP Study", "LAMP-1", "Low-Concentration Atropine for Myopia Progression Study"; ; rdfs:label "Low Concentration Atropine for Myopia Progression Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12347 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12347; "myopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12925536/fullTextXML"; rdfs:comment "children aged 4 to 12 years with a myopic refractive error of at least –1.0 diopter (D) in both eyes, astigmatism of <2.5 D, and documented myopic progression of ≥0.5 D in the previous year were enrolled in the LAMP trial." . _:2c7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12102314/supplementaryFiles"; rdfs:comment "This study was conducted from January 2016 to November 2017 at the CUHK Eye Centre of the Chinese University of Hong Kong, Hong Kong, China." . _:2c7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90566418"; "Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children."; "PMID:40410244", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40410244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify novel genetic loci for children refractive error, we performed a meta-analysis of two genome-wide association studies (GWASs) of spherical equivalent (SE) in 1,237 children from the population-based Hong Kong Children Eye Study (HKCES) and the Low Concentration Atropine for Myopia Progression (LAMP) study." . _:2c7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-masked, placebo-controlled trial at the Chinese University of Hong Kong Eye Centre that from 2016 to 2017 enrolled children aged 4 to 12 with myopia in both eyes, limited astigmatism and documented myopic progression in the previous year, assigned them to nightly 0.05%, 0.025% or 0.01% atropine eye drops or placebo, and followed them in later phases (placebo switched to atropine, re-randomisation to continued treatment or washout, and longer-term follow-up), to evaluate the efficacy and safety of low-concentration atropine for slowing myopia progression."; "PMID:30514630", "PMID:40410244", "PMID:41732593"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 438; "children randomised in phase 1 (2016-2017)"; "PMID:30514630"; rdfs:comment "ParticipantsA total of 438 children aged 4 to 12 years with myopia of at least -1.0 diopter (D) and astigmatism of -2.5 D or less." . _:2c802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAMP"; . _:2c812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAMP-1"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12355; , ; "GCST90002244"; "An obesity-enriched cohort of children and adolescents from the Leipzig area, Germany, recruited through the paediatric obesity outpatient clinic of Leipzig University Medical Center and run by its Center for Pediatric Research, with oral glucose tolerance tests, serum and DNA samples collected at clinic visits and regular follow-up, some into adulthood, to identify genetic variants and biomarkers underlying childhood obesity and its metabolic consequences."; 1745; "Extended Geno- and Phenotyping of Overweight and Obese Children and Adolescents", "LEIPZIG Kids", "LEIPZIG-kids", "LEIPZIG_CHILDHOOD_IFB", "Leipzig", "Leipzig Childhood Obesity Cohort", "Leipzig Childhood Obesity Study", "Leipzig Obesity Childhood Cohort", "Leipzig childhood obesity cohort", "Leipzig-childhood_IFB"; ; rdfs:label "Leipzig Childhood Obesity cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12355 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12355; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12575610/fullTextXML"; rdfs:comment "In this study, we adopt a comprehensive approach to describe the transition of children and adolescents with overweight or obesity into adulthood from an obesity center in Germany." . _:2c832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12575610/fullTextXML"; rdfs:comment "In this study, we adopt a comprehensive approach to describe the transition of children and adolescents with overweight or obesity into adulthood from an obesity center in Germany." . _:2c842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002244"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7610958/supplementaryFiles"; rdfs:comment "LEIPZIG-kids LEIPZIG Kids were supported by the Federal Ministry of Education and Research (BMBF), Germany, Integrated Research and Treatment Centre 60 (IFB) Adiposity Diseases FKZ: 01EO1001" . _:2c852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An obesity-enriched cohort of children and adolescents from the Leipzig area, Germany, recruited through the paediatric obesity outpatient clinic of Leipzig University Medical Center and run by its Center for Pediatric Research, with oral glucose tolerance tests, serum and DNA samples collected at clinic visits and regular follow-up, some into adulthood, to identify genetic variants and biomarkers underlying childhood obesity and its metabolic consequences."; "PMID:37465325", "PMID:41168416", "https://clinicaltrials.gov/api/v2/studies/NCT04491344"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1745; "patients in the cohort as rescreened for a genetic study (2022)"; "PMID:36536132"; rdfs:comment "As the type of mutation escapes standard genetic screening algorithms, we rescreened the Leipzig Childhood Obesity cohort of 1,745 patients and identified four additional patients with the identical mutation, ectopic ASIP expression and a similar phenotype." . _:2c872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LEIPZIG-kids"; . _:2c882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LEIPZIG_CHILDHOOD_IFB"; . _:2c892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leipzig"; . _:2c8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Leipzig-childhood_IFB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12365; , ; "GCST90711137"; "An ongoing single-site, case-only cohort of patients who have undergone lung cancer surgery since 1999 at the Quebec Heart and Lung Institute (Institut universitaire de cardiologie et de pneumologie de Québec – Université Laval) in Quebec City, Canada, with diagnoses confirmed by pathology of the resected specimens, clinical data and consent to the institute's biobank, assembled by a translational research programme towards precision medicine in lung cancer and used for germline genetic and tumour molecular studies."; 4002; "LORD", "Lung Oncology Research and Discovery"; ; rdfs:label "Lung Oncology Research & Discovery"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12365 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12365; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11282926/fullTextXML"; rdfs:comment "LORD consists of a single site case-only cohort based on a 20-year data collection (1999–2021) of patients who underwent lung cancer surgery at IUCPQ-UL." . _:2c8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11282926/fullTextXML"; rdfs:comment "Lung Oncology Research & Discovery (LORD) is an ongoing translational research program towards precision medicine in lung cancer diagnosis, management and treatment conducted at the Quebec Heart and Lung Institute (IUCPQ-UL or “Institut universitaire de cardiologie et de pneumologie de Québec—Université Laval”), located in Quebec City, Canada." . _:2c8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90711137"; "Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian case-control cohort."; "PMID:38970920", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11282926/fullTextXML"; rdfs:comment "LORD consists of a single site case-only cohort based on a 20-year data collection (1999–2021) of patients who underwent lung cancer surgery at IUCPQ-UL." . _:2c8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing single-site, case-only cohort of patients who have undergone lung cancer surgery since 1999 at the Quebec Heart and Lung Institute (Institut universitaire de cardiologie et de pneumologie de Québec – Université Laval) in Quebec City, Canada, with diagnoses confirmed by pathology of the resected specimens, clinical data and consent to the institute's biobank, assembled by a translational research programme towards precision medicine in lung cancer and used for germline genetic and tumour molecular studies."; "PMID:38970920", "PMID:40209611"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4002; "genotyped lung cancer surgery patients of European descent passing QC (analysed subset), 2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11282926/fullTextXML"; rdfs:comment "After the QC filters, 4002 cases of European descent confirmed at genotyping were available for subsequent analyses." . _:2c902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LORD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12372, _:genid-371333f489424440b12a13b9d98ced822608-genid12374; , ; ; "GCST90269914"; "A prospective multicentre cohort study of gay and bisexual men with and without HIV-1 infection, first enrolled in 1984–1985 at sites in Baltimore/Washington DC, Chicago, Pittsburgh and Los Angeles in the United States, with later enrolment waves, and followed with interviews, physical examinations, laboratory testing and specimen banking every six months, to study the natural and treated history of HIV infection and AIDS and its risk factors; in 2019 it was combined with the Women's Interagency HIV Study into the MACS/WIHS Combined Cohort Study."; "The acronym MACS also denotes Marburg-Münster Affective Disorders Cohort Study (COHO:0001330); this term is Multicenter AIDS Cohort Study."@en; 6972; "MACS"; ; rdfs:label "Multicenter AIDS Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12372 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12374 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12372; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A3300281+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Multicenter AIDS Cohort Study was designed to elucidate the natural history of the infection causing acquired immunodeficiency syndrome (AIDS), identify risk factors for occurrence and clinical expression of the infection, and establish a repository of biologic specimens for future study." . _:2c922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12374; "AIDS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A3300281+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Multicenter AIDS Cohort Study was designed to elucidate the natural history of the infection causing acquired immunodeficiency syndrome (AIDS), identify risk factors for occurrence and clinical expression of the infection, and establish a repository of biologic specimens for future study." . _:2c932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8484936/"; rdfs:comment "The MACS targeted enrollment of men who have sex with men (MSM), with initial enrollment during 1984–1985 in 4 cities across the United States (2) and additional enrollment waves in 1987–1990 and 2001–2003, and limited replenishment enrollment from 2010 to 2017." . _:2c942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269914"; "Africa-specific human genetic variation near CHD1L associates with HIV-1 load."; "PMID:37532928", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The Multicenter AIDS Cohort Study (MACS) DESCRIPTION: The Multicenter AIDS Cohort Study (MACS) is an ongoing prospective study of the natural and treated histories of HIV-1 infection in homosexual and bisexual men conducted by sites located in Baltimore, Chicago, Pittsburgh and Los Angeles." . _:2c952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre cohort study of gay and bisexual men with and without HIV-1 infection, first enrolled in 1984–1985 at sites in Baltimore/Washington DC, Chicago, Pittsburgh and Los Angeles in the United States, with later enrolment waves, and followed with interviews, physical examinations, laboratory testing and specimen banking every six months, to study the natural and treated history of HIV infection and AIDS and its risk factors; in 2019 it was combined with the Women's Interagency HIV Study into the MACS/WIHS Combined Cohort Study."; "PMID:3300281", "PMID:33675224", "PMID:37532928"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6972; "men enrolled across all enrolment waves"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-023-06370-4/MediaObjects/41586_2023_6370_MOESM1_ESM.pdf"; rdfs:comment "A total of 6,972 men have been enrolled." . _:2c972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MACS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12381, _:genid-371333f489424440b12a13b9d98ced822608-genid12383; , ; "GCST90315948"; "A community-based targeted lung cancer screening programme in socioeconomically deprived areas of Manchester, England, run by Manchester University NHS Foundation Trust, which began as a pilot in 2016 and continued in later programmes. It invites ever-smokers registered with local general practices (aged 55–74 in the pilot, 55–80 later) to a nurse-led Lung Health Check on mobile units, with lung cancer risk calculation (PLCOm2012), symptom assessment, spirometry and smoking cessation advice, offers annual low-dose CT screening to those at high risk, and follows attendees for lung cancer outcomes."; 2541; "LHC", "M-LHC", "Man_LHC", "Manchester Lung Health Check cohort"; ; rdfs:label "Manchester Lung Health Check"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12381 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12383 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2c982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12381; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6585285/fullTextXML"; rdfs:comment "In Manchester, we developed a community-based ‘Lung Health Check’ (LHC) approach to target high-risk smokers in deprived areas." . _:2c992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12383; "ever smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6585285/fullTextXML"; rdfs:comment "In brief, ever smokers aged 55–74 at participating general practices (n=14) were invited to a LHC; this consisted of 6-year lung cancer risk calculation (PLCOM2012),3 symptom assessment, smoking cessation advice and spirometry." . _:2c9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33046839+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Furthermore, implementation programmes are currently underway in the UK following the success of the UK Lung Cancer Screening (UKLS) trial, which included the Liverpool Health Lung Project, Manchester Lung Health Check, the Lung Screen Uptake Trial, the West London Lung Cancer Screening pilot and the Yorkshire Lung Screening trial." . _:2c9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90315948"; "Validation of lung cancer polygenic risk scores in a high-risk case-control cohort."; "PMID:37154150", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37154150+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We validated 9 PRSs in a high-risk case-control cohort, comprising genotype data from 652 surgical patients with LC and 550 cancer-free, high-risk (PLCOM2012 score ≥ 1.51%) participants of the Manchester Lung Health Check, a community-based LC screening program (n = 550)." . _:2c9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based targeted lung cancer screening programme in socioeconomically deprived areas of Manchester, England, run by Manchester University NHS Foundation Trust, which began as a pilot in 2016 and continued in later programmes. It invites ever-smokers registered with local general practices (aged 55–74 in the pilot, 55–80 later) to a nurse-led Lung Health Check on mobile units, with lung cancer risk calculation (PLCOm2012), symptom assessment, spirometry and smoking cessation advice, offers annual low-dose CT screening to those at high risk, and follows attendees for lung cancer outcomes."; "PMID:30420406", "PMID:35430354", "PMID:40046247"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2c9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2541; "attendees of the 2016 pilot Lung Health Checks"; "PMID:40046247"; rdfs:comment "Out of 2541 attendees, 56% were high-risk (n=1430/2541) and offered screening; 44% were low-risk (n=1111/2541) and not screened." . _:2c9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LHC"; . _:2c9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M-LHC"; . _:2ca02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Man_LHC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12392; , ; ; "GCST90432152"; "An electronic medical record-linked biorepository at Mayo Clinic, begun in 2006, that archives DNA, plasma and serum and a questionnaire from consecutive adult patients with known or suspected atherosclerotic vascular disease (such as carotid artery stenosis, abdominal aortic aneurysm or peripheral arterial disease) referred for non-invasive vascular evaluation or exercise stress testing at the Mayo Clinic Gonda Vascular Center, ascertaining disease and comorbidities with electronic phenotyping algorithms, to discover genetic and circulating biomarkers of atherosclerotic vascular disease."; "The acronym VDB also denotes Vejle Diabetes Biobank (COHO:0002542); this term is Mayo Vascular Disease Biorepository."@en; 5268; "MAYO-VDB", "MAYOVDB", "MAYO_VDB", "Mayo Clinic Vascular Disease Biorepository", "Mayo VDB", "Mayo Vascular diseases Biorepository", "Mayo-VDB", "VDB", "Vascular Disease Biorepository", "Vascular Diseases Biorepository - Mayo Clinic"; ; rdfs:label "Mayo Vascular Disease Biorepository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12392 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ca12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12392; "atherosclerotic vascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24689004+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Vascular Disease Biorepository at Mayo Clinic was established to archive DNA, plasma, and serum from patients with suspected AVD." . _:2ca22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3963733/fullTextXML"; rdfs:comment "All participants were U.S. residents, with 85% from the Upper Midwest." . _:2ca32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432152"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "Mayo VDB: Mayo Vascular Disease Biorepository (VDB) at the Mayo Clinic was established to archive DNA, plasma, and serum from patients with suspected atherosclerotic cardiovascular disease (ASCVD) referred for noninvasive vascular evaluation and exercise stress testing at the Mayo Clinic Gonda Vascular Center from January 14, 2006 to July 24, 2020." . _:2ca42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An electronic medical record-linked biorepository at Mayo Clinic, begun in 2006, that archives DNA, plasma and serum and a questionnaire from consecutive adult patients with known or suspected atherosclerotic vascular disease (such as carotid artery stenosis, abdominal aortic aneurysm or peripheral arterial disease) referred for non-invasive vascular evaluation or exercise stress testing at the Mayo Clinic Gonda Vascular Center, ascertaining disease and comorbidities with electronic phenotyping algorithms, to discover genetic and circulating biomarkers of atherosclerotic vascular disease."; "PMID:24689004", "PMID:26343387", "PMID:37845353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ca52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5268; "patients consented up to December 2012"; "PMID:24689004"; rdfs:comment "Up to December 2012, 8800 patients referred for vascular ultrasound examination and non-invasive lower extremity arterial evaluation were approached, of whom 5268 consented." . _:2ca62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYO-VDB"; . _:2ca72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYOVDB"; . _:2ca82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYO_VDB"; . _:2ca92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo VDB"; . _:2caa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo-VDB"; . _:2cab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12404; , ; "GCST90315948"; "A research tissue bank of the Manchester Cancer Research Centre, established in 2008 and run from The Christie NHS Foundation Trust, that collects tissue, blood and other samples, with consent to use them and data about the donors for research, from patients at four NHS trusts in Greater Manchester, mainly people undergoing surgery where cancer is a possible diagnosis, to supply samples for cancer research."; "MCRC", "MCRC Biobank", "MCRCB", "Manchester Cancer Research Centre"; ; rdfs:label "Manchester Cancer Research Centre Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12404 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12404; "cancer"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/manchester-cancer-research-centre-biobank-2/"; rdfs:comment "The Biobank will collect tissue, blood and other samples from patients admitted to hospitals in the Greater Manchester area, who are undergoing an operation to remove tissue where cancer is a possible diagnosis." . _:2cad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/manchester-cancer-research-centre-biobank-2/"; rdfs:comment "The Biobank will collect tissue, blood and other samples from patients admitted to hospitals in the Greater Manchester area, who are undergoing an operation to remove tissue where cancer is a possible diagnosis." . _:2cae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90315948"; "Validation of lung cancer polygenic risk scores in a high-risk case-control cohort."; "PMID:37154150" . _:2caf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research tissue bank of the Manchester Cancer Research Centre, established in 2008 and run from The Christie NHS Foundation Trust, that collects tissue, blood and other samples, with consent to use them and data about the donors for research, from patients at four NHS trusts in Greater Manchester, mainly people undergoing surgery where cancer is a possible diagnosis, to supply samples for cancer research."; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/manchester-cancer-research-centre-biobank-2/", "https://www.mcrc.manchester.ac.uk/research/mcrc-biobank/about-the-mcrc-biobank/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCRC"; . _:2cb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCRC Biobank"; . _:2cb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCRCB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12412; , ; ; "GCST010304"; "A French study of genetic susceptibility to cutaneous melanoma that recruited histologically confirmed melanoma patients of European ancestry, enrolled for a family history of melanoma, multiple primary melanomas or diagnosis before age 40, through a nationwide network of French dermatology departments and oncogenetic clinics between 1992 and 2011, with interview, clinical examination and questionnaire data on melanoma risk factors; in genome-wide association studies its cases were compared with population-based French controls."; 1244; 1244; "MELARISK", "MELARISK collection"; ; rdfs:label "MELARISK study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12412 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12412; "cutaneous melanoma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5116391/unicode"; rdfs:comment "The MELARISK study comprised of 1,244 European-ancestry melanoma cases who were recruited through a nationwide network of French Dermatology Departments and Oncogenetic clinics between 1992 and 2011." . _:2cb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5116391/unicode"; rdfs:comment "The MELARISK study comprised of 1,244 European-ancestry melanoma cases who were recruited through a nationwide network of French Dermatology Departments and Oncogenetic clinics between 1992 and 2011." . _:2cb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST010304"; "Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility."; "PMID:32341527", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0611-8/MediaObjects/41588_2020_611_MOESM1_ESM.pdf"; rdfs:comment "We acknowledge that the biological specimens of the French MELARISK study were obtained from the Institut Gustave Roussy and Fondation Jean Dausset–CEPH Biobanks." . _:2cb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French study of genetic susceptibility to cutaneous melanoma that recruited histologically confirmed melanoma patients of European ancestry, enrolled for a family history of melanoma, multiple primary melanomas or diagnosis before age 40, through a nationwide network of French dermatology departments and oncogenetic clinics between 1992 and 2011, with interview, clinical examination and questionnaire data on melanoma risk factors; in genome-wide association studies its cases were compared with population-based French controls."; "PMID:25892537", "PMID:27347659", "PMID:32341527"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1244; "European-ancestry melanoma cases recruited 1992-2011"; "PMID:27347659"; rdfs:comment "The MELARISK study comprised of 1,244 European-ancestry melanoma cases who were recruited through a nationwide network of French Dermatology Departments and Oncogenetic clinics between 1992 and 2011." . _:2cb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1244; "European-ancestry melanoma cases recruited 1992-2011"; "PMID:27347659"; rdfs:comment "The MELARISK study comprised of 1,244 European-ancestry melanoma cases who were recruited through a nationwide network of French Dermatology Departments and Oncogenetic clinics between 1992 and 2011." . _:2cb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MELARISK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12420, _:genid-371333f489424440b12a13b9d98ced822608-genid12422, _:genid-371333f489424440b12a13b9d98ced822608-genid12424, _:genid-371333f489424440b12a13b9d98ced822608-genid12426; , , , , , , ; ; "GCST90269914"; "A prospective cohort study of the US National Cancer Institute of people with hemophilia or related congenital coagulation disorders at hemophilia treatment centres: the first Multicenter Hemophilia Cohort Study (MHCS-I), begun in 1982 at 16 centres in the United States and Europe, followed its participants to study the cause and natural history of HIV infection and AIDS, and the second (MHCS-II) invited all HCV-seropositive patients aged 13 or older at 52 participating centres in 2001–2005, to quantify the impact of hepatitis C, hepatitis B and HIV infections."; 1219; "MHCS", "Multicenter Hemophilia Cohort Study"; ; rdfs:label "Multicenter Hemophilia Cohort Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12420 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12422 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12424 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12426 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12420; "HIV infection"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2929328/unicode"; rdfs:comment "Briefly, the MHCS-II was established to quantify the impact of hepatitis C (HCV), hepatitis B (HBV) and human immunodeficiency virus (HIV-1) infections on persons with hemophilia." . _:2cbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12422; "hepatitis C"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2929328/unicode"; rdfs:comment "Briefly, the MHCS-II was established to quantify the impact of hepatitis C (HCV), hepatitis B (HBV) and human immunodeficiency virus (HIV-1) infections on persons with hemophilia." . _:2cbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12424; "hepatitis B"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2929328/unicode"; rdfs:comment "Briefly, the MHCS-II was established to quantify the impact of hepatitis C (HCV), hepatitis B (HBV) and human immunodeficiency virus (HIV-1) infections on persons with hemophilia." . _:2cbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12426; "hemophilia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2929328/unicode"; rdfs:comment "Briefly, the MHCS-II was established to quantify the impact of hepatitis C (HCV), hepatitis B (HBV) and human immunodeficiency virus (HIV-1) infections on persons with hemophilia." . _:2cbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC546217/fullTextXML"; rdfs:comment "University of Vienna Medical School, Vienna, Austria" . _:2cbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC546217/fullTextXML"; rdfs:comment "Medizinische Klinik Innerstadt der Maximilian, Universitaet Muenchen, Munich, Germany" . _:2cc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10696979+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied 131 Greek participants in the Multicenter Hemophilia Cohort Study who had known HIV-1 seroconversion dates." . _:2cc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC546217/fullTextXML"; rdfs:comment "Haemostasis Unit, Hôpital Cantonal Universitaire, Geneva, Switzerland" . _:2cc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8106967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied human immunodeficiency virus type 1 (HIV-1) infection incidence over time in a 16-center cohort of hemophiliacs in the United States and Europe and estimated the most likely date of seroconversion for all seropositive subjects." . _:2cc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269914"; "Africa-specific human genetic variation near CHD1L associates with HIV-1 load."; "PMID:37532928", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The first Multicenter Hemophilia Cohort Study (MHCS-I) evaluated and prospectively followed patients with hemophilia or a related coagulation disorder." . _:2cc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study of the US National Cancer Institute of people with hemophilia or related congenital coagulation disorders at hemophilia treatment centres: the first Multicenter Hemophilia Cohort Study (MHCS-I), begun in 1982 at 16 centres in the United States and Europe, followed its participants to study the cause and natural history of HIV infection and AIDS, and the second (MHCS-II) invited all HCV-seropositive patients aged 13 or older at 52 participating centres in 2001–2005, to quantify the impact of hepatitis C, hepatitis B and HIV infections."; "PMID:20337924", "PMID:37532928", "PMID:8106967"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1219; "subjects in the first study (MHCS-I) only, as of 1989"; "PMID:2477702"; rdfs:comment "We evaluated a multicenter cohort of 1219 subjects with hemophilia or related disorders prospectively, focusing on 319 subjects with documented dates of seroconversion to human immunodeficiency virus type 1 (HIV-1)." . _:2cc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MHCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12437; , ; "GCST90451657"; "A UK open-label, randomised, phase 3 adaptive-design trial for patients with newly diagnosed multiple myeloma at 110 National Health Service hospitals in England, Wales and Scotland, recruiting from 2010, which assigned patients by age and fitness to intensive (transplantation) or non-intensive pathways and had three randomisation stages, including induction regimens and lenalidomide maintenance against observation."; "The acronym MRC also denotes MRC Myeloma IX trial (COHO:0001375); this term is Myeloma XI trial."@en; 4420; "MRC", "MyXI", "Myeloma XI", "Myeloma-XI trial"; ; rdfs:label "Myeloma XI trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12437 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12437; "multiple myeloma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30559051+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We aimed to assess lenalidomide maintenance versus observation in patients with newly diagnosed multiple myeloma, including cytogenetic risk and transplantation status subgroup analyses." . _:2cc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6318225/fullTextXML"; rdfs:comment "The Myeloma XI trial was an open-label, randomised, phase 3, adaptive design trial with three randomisation stages done at 110 National Health Service hospitals in England, Wales, and Scotland." . _:2cc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451657"; "Deciphering the genetics and mechanisms of predisposition to multiple myeloma."; "PMID:39103364", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11300596/fullTextXML"; rdfs:comment "the Myeloma-XI70 trial by the Oxfordshire Research Ethics Committee (MREC 17/09/09, ISRCTN49407852)" . _:2cca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK open-label, randomised, phase 3 adaptive-design trial for patients with newly diagnosed multiple myeloma at 110 National Health Service hospitals in England, Wales and Scotland, recruiting from 2010, which assigned patients by age and fitness to intensive (transplantation) or non-intensive pathways and had three randomisation stages, including induction regimens and lenalidomide maintenance against observation."; "PMID:30559051"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ccb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4420; "newly diagnosed patients recruited across both pathways"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10952726/fullTextXML"; rdfs:comment "Across two pathways, for TE and TNE patients, 4420 newly diagnosed, symptomatic, patients with myeloma were recruited." . _:2ccc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRC"; . _:2ccd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MyXI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12445; , ; "GCST90451657"; "A UK Medical Research Council open-label randomised trial that enrolled adults aged 18 or older with newly diagnosed symptomatic multiple myeloma at 120 UK centres between May 2003 and November 2007, allocating them to an intensive pathway (induction followed by high-dose melphalan and autologous stem-cell transplantation) or a non-intensive pathway, and randomising first-line bisphosphonate (zoledronic versus clodronic acid) with induction chemotherapy and, later, maintenance treatment."; "The acronym MRC also denotes Myeloma XI trial (COHO:0001374); this term is MRC Myeloma IX trial."@en; 1970; "MRC", "Medical Research Council Myeloma IX trial", "MyIX", "Myeloma IX", "Myeloma-IX trial"; ; rdfs:label "MRC Myeloma IX trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12445 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12445; "multiple myeloma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3639680/fullTextXML"; rdfs:comment "In the MRC Myeloma IX trial, adult patients of age 18 years or older who had newly diagnosed and histologically confirmed symptomatic multiple myeloma were enrolled from 120 centres in the UK." . _:2ccf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3639680/fullTextXML"; rdfs:comment "In the MRC Myeloma IX trial, adult patients of age 18 years or older who had newly diagnosed and histologically confirmed symptomatic multiple myeloma were enrolled from 120 centres in the UK." . _:2cd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451657"; "Deciphering the genetics and mechanisms of predisposition to multiple myeloma."; "PMID:39103364", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11300596/fullTextXML"; rdfs:comment "for the Myeloma-IX68,69 trial by the Medical Research Council Leukaemia Data Monitoring and Ethics committee (MREC 02/8/95, ISRCTN68454111)" . _:2cd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK Medical Research Council open-label randomised trial that enrolled adults aged 18 or older with newly diagnosed symptomatic multiple myeloma at 120 UK centres between May 2003 and November 2007, allocating them to an intensive pathway (induction followed by high-dose melphalan and autologous stem-cell transplantation) or a non-intensive pathway, and randomising first-line bisphosphonate (zoledronic versus clodronic acid) with induction chemotherapy and, later, maintenance treatment."; "PMID:21131037"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1970; "patients enrolled May 2003 to November 2007"; "PMID:21131037"; rdfs:comment "1970 patients were enrolled between May, 2003, and November, 2007, of whom 1960 were eligible for intention-to-treat analysis: 981 in the zoledronic acid group (555 on intensive chemotherapy, 426 on non-intensive chemotherapy); and 979 on clodronic acid (556 on intensive chemotherapy, 423 on non-intensive chemotherapy)." . _:2cd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRC"; . _:2cd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MyIX"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12453, _:genid-371333f489424440b12a13b9d98ced822608-genid12455, _:genid-371333f489424440b12a13b9d98ced822608-genid12457, _:genid-371333f489424440b12a13b9d98ced822608-genid12459; , ; "GCST90708781"; "A genomic database drawn from the second phase of the 2016 Mexican National Survey of Tobacco, Alcohol, and Drug Use (Encodat 2016), a nationwide household survey that excluded regions where most people speak a Native American language, whose participants answered questionnaires on substance use and psychiatric symptoms and gave buccal DNA samples, assembled by Mexico's National Institute of Psychiatry Ramón de la Fuente Muñiz and National Institute of Genomic Medicine for genetic studies of addiction and related psychiatric and pharmacogenetic traits."; 7171; "ENCODAT", "MxGDAR", "MxGDAR-Encodat", "MxGDAR/Encodat"; ; rdfs:label "Mexican Genomic Database for Addiction Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12453 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12455 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12457 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12459 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12453; "alcohol use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7188951/fullTextXML"; rdfs:comment "This study analyzed a subsample of the Mexican Genomic Database for Addiction Research (MxGDAR/Encodat), derived from the Mexican National Survey of Tobacco, Alcohol, and Drug use (Villatoro-Velázquez et al., 2017)." . _:2cd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12455; "drug use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7188951/fullTextXML"; rdfs:comment "This study analyzed a subsample of the Mexican Genomic Database for Addiction Research (MxGDAR/Encodat), derived from the Mexican National Survey of Tobacco, Alcohol, and Drug use (Villatoro-Velázquez et al., 2017)." . _:2cd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12457; "tobacco use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7188951/fullTextXML"; rdfs:comment "This study analyzed a subsample of the Mexican Genomic Database for Addiction Research (MxGDAR/Encodat), derived from the Mexican National Survey of Tobacco, Alcohol, and Drug use (Villatoro-Velázquez et al., 2017)." . _:2cd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12459; "addiction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32390825+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A subsample of 1728 individuals from the Mexican Genomic Database for Addiction Research (MxGDAR/Encodat) was analyzed." . _:2cd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11269173/fullTextXML"; rdfs:comment "Those from Mexico were part of the subsample MxGDAR-Encodat [17] from the Mexican National Survey of Tobacco, Alcohol, and Drug Use [18], which found an ADHD prevalence of 1.4% based on a questionnaire used to assign participants to the ADHD group." . _:2cda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90708781"; "Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts."; "PMID:38714835", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11269173/fullTextXML"; rdfs:comment "Those from Mexico were part of the subsample MxGDAR-Encodat [17] from the Mexican National Survey of Tobacco, Alcohol, and Drug Use [18], which found an ADHD prevalence of 1.4% based on a questionnaire used to assign participants to the ADHD group." . _:2cdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genomic database drawn from the second phase of the 2016 Mexican National Survey of Tobacco, Alcohol, and Drug Use (Encodat 2016), a nationwide household survey that excluded regions where most people speak a Native American language, whose participants answered questionnaires on substance use and psychiatric symptoms and gave buccal DNA samples, assembled by Mexico's National Institute of Psychiatry Ramón de la Fuente Muñiz and National Institute of Genomic Medicine for genetic studies of addiction and related psychiatric and pharmacogenetic traits."; "PMID:32390825"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7171; "participants whose buccal DNA samples passed quality criteria (2016)"; "PMID:32390825"; rdfs:comment "The MxGDAR/Encodat database included 7171 of the 13,228 buccal epithelial samples collected (54.21%) that met the following quality criteria: i) 230/260 and 260/230 ratios > 1.8, ii) concentration > 50 ng/µL, and iii) no signs of DNA degradation." . _:2cdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENCODAT"; . _:2cde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MxGDAR"; . _:2cdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MxGDAR-Encodat"; . _:2ce02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MxGDAR/Encodat"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12469, _:genid-371333f489424440b12a13b9d98ced822608-genid12471; , ; , ; "GCST90179151"; "The Finnish arm of the multisite Nicotine Addiction Genetics consortium (Finland, Australia and the United States), in which twin pairs from the older Finnish Twin Cohort (born 1938–1957) concordant for ever-smoking, with priority to heavier smokers, were recruited in 2001–2005 together with their family members, mainly siblings, and assessed by a structured diagnostic psychiatric interview and DNA sampling to study the genetics of smoking behaviour and nicotine dependence."; 2188; "FTC/NAG-FIN", "Finnish Nicotine Addiction Genetics Project", "NAG-FIN", "NAG-Fin", "Nicotine Addiction Genetics - Finland study", "Nicotine Addiction Genetics-Finland study"; ; rdfs:label "Nicotine Addiction Genetics Finland study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12469 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12471 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ce12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12469; "nicotine dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6519128/fullTextXML"; rdfs:comment "Twin pairs concordant for ever‐smoking were identified and recruited along with their family members (mainly siblings) for the Nicotine Addiction Genetics (NAG) Finland study." . _:2ce22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12471; "ever-smoking", "heavy smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6519128/fullTextXML"; rdfs:comment "Twin pairs concordant for ever‐smoking were identified and recruited along with their family members (mainly siblings) for the Nicotine Addiction Genetics (NAG) Finland study." . _:2ce32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6519128/fullTextXML"; rdfs:comment "Twin pairs concordant for ever‐smoking were identified and recruited along with their family members (mainly siblings) for the Nicotine Addiction Genetics (NAG) Finland study." . _:2ce42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90179151"; "Pleiotropic genetic architecture and novel loci for C-reactive protein levels."; "PMID:36376304", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9663411/supplementaryFiles"; rdfs:comment "23andMea, ALSPAC, ARIC, BLS, CADD, COGEND, COPDGene, deCODE, EGCUT, FHS, FinnTwin, GERA, GFG, Harvard, HRS, HUNT, MCTFR, MESA, METSIM, NESCOG, NAG-FIN, NTR, QIMR, SardiNIA, UKBc, WHI" . _:2ce52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Finnish arm of the multisite Nicotine Addiction Genetics consortium (Finland, Australia and the United States), in which twin pairs from the older Finnish Twin Cohort (born 1938–1957) concordant for ever-smoking, with priority to heavier smokers, were recruited in 2001–2005 together with their family members, mainly siblings, and assessed by a structured diagnostic psychiatric interview and DNA sampling to study the genetics of smoking behaviour and nicotine dependence."; "PMID:24927283", "PMID:29532581"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ce62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2188; "individuals with interview, blood sample and consent (2005)"; "PMID:24927283"; rdfs:comment "Data from diagnostic interview, blood samples, and informed consent were available on 2188 individuals." . _:2ce72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTC/NAG-FIN"; . _:2ce82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAG-FIN"; . _:2ce92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAG-Fin"; . a owl:NamedIndividual, ; , ; "GCST90179151"; "A Dutch study of individual differences in cognition and cognition-related disorders. It has a general-population sample of volunteers recruited through media advertisements or the Science Live research programme of the NEMO Science Center in Amsterdam, who performed cognitive tasks and completed an online questionnaire on life events, personality, environment and behaviour, and a genetically informative family sample of twins and their siblings."; 837; "NESCOG", "Netherlands Study of Cognition", "Netherlands Study on Cognition, Environment and Genes"; ; rdfs:label "Netherlands Study of Cognition, Environment and Genes"@en . _:2cea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3738022/fullTextXML"; rdfs:comment "Sample 1 (S1, n = 837) was recruited through media advertisement or through the Science Live Program of the NEMO Science Center in Amsterdam (www.sciencelive.nl)." . _:2ceb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90179151"; "Pleiotropic genetic architecture and novel loci for C-reactive protein levels."; "PMID:36376304", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9663411/supplementaryFiles"; rdfs:comment "23andMea, ALSPAC, ARIC, BLS, CADD, COGEND, COPDGene, deCODE, EGCUT, FHS, FinnTwin, GERA, GFG, Harvard, HRS, HUNT, MCTFR, MESA, METSIM, NESCOG, NAG-FIN, NTR, QIMR, SardiNIA, UKBc, WHI" . _:2cec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch study of individual differences in cognition and cognition-related disorders. It has a general-population sample of volunteers recruited through media advertisements or the Science Live research programme of the NEMO Science Center in Amsterdam, who performed cognitive tasks and completed an online questionnaire on life events, personality, environment and behaviour, and a genetically informative family sample of twins and their siblings."; "PMID:23257114"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ced2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 837; "general-population sample (sample 1) only"; "PMID:23257114"; rdfs:comment "Sample 1 (S1, n = 837) was recruited through media advertisement or through the Science Live Program of the NEMO Science Center in Amsterdam (www.sciencelive.nl)." . _:2cee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NESCOG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12485, _:genid-371333f489424440b12a13b9d98ced822608-genid12487; ; , ; "GCST003864"; "A combined sample of two cohorts of young people with childhood-onset type 1 diabetes in England, analysed as one study in genome-wide association studies of diabetic kidney disease and type 1 diabetes. The Oxford Regional Prospective Study recruited children diagnosed with type 1 diabetes before the age of 16 in the Oxford Health Authority region in 1986–1996. The Nephropathy Family Study recruited adolescents aged 10–16 years with type 1 diabetes, and their parents, in four English regions in 2000–2005. Both cohorts were followed with annual measurements of HbA1c and the urinary albumin-to-creatinine ratio."; 1232; "NFS-ORPS", "NFS-ORPS/Cambridge"; ; rdfs:label "UK Nephropathy Family Study and Oxford Regional Prospective Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12485 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12487 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12485; "diabetic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21335371+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Serially collected samples for A1C measurement were available for 1,232 subjects with childhood-onset type 1 diabetes recruited to the Oxford Regional Prospective Study and the Nephropathy Family Study." . _:2cf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12487; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21335371+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Serially collected samples for A1C measurement were available for 1,232 subjects with childhood-onset type 1 diabetes recruited to the Oxford Regional Prospective Study and the Nephropathy Family Study." . _:2cf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5280020/"; rdfs:comment "The GWAS discovery stage included 3135–5156 subjects with T1D, depending on phenotypic comparison (Supplemental Figure 1), from four studies: FinnDiane,23 the EURODIAB Family Study,24 the Scania Diabetes Registry (SDR),25 and the UK Nephropathy Family Study and Oxford Regional Prospective Study (NFS-ORPS/Cambridge)26,27 (Supplemental Tables 2 and 3, Table 1)." . _:2cf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3064014/fullTextXML"; rdfs:comment "Between 2000 and 2005, the NFS recruited adolescents aged 10–16 years with type 1 diabetes throughout England (8)." . _:2cf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003864"; "The Genetic Landscape of Renal Complications in Type 1 Diabetes."; "PMID:27647854", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5280020/"; rdfs:comment "The GWAS discovery stage included 3135–5156 subjects with T1D, depending on phenotypic comparison (Supplemental Figure 1), from four studies: FinnDiane,23 the EURODIAB Family Study,24 the Scania Diabetes Registry (SDR),25 and the UK Nephropathy Family Study and Oxford Regional Prospective Study (NFS-ORPS/Cambridge)26,27 (Supplemental Tables 2 and 3, Table 1)." . _:2cf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A combined sample of two cohorts of young people with childhood-onset type 1 diabetes in England, analysed as one study in genome-wide association studies of diabetic kidney disease and type 1 diabetes. The Oxford Regional Prospective Study recruited children diagnosed with type 1 diabetes before the age of 16 in the Oxford Health Authority region in 1986–1996. The Nephropathy Family Study recruited adolescents aged 10–16 years with type 1 diabetes, and their parents, in four English regions in 2000–2005. Both cohorts were followed with annual measurements of HbA1c and the urinary albumin-to-creatinine ratio."; "PMID:19918004", "PMID:21335371", "PMID:27647854"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1232; "analysed subset: ORPS and NFS participants with more than one HbA1c (84% of both cohorts)"; "PMID:21335371"; rdfs:comment "The study population consisted of 1,232 participants in the Oxford Regional Prospective Study (ORPS, n = 418) and Nephropathy Family Study (NFS, n = 814) with more than one A1C assessment, representing 84% of the whole cohorts." . _:2cf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFS-ORPS"; . _:2cf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFS-ORPS/Cambridge"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12496, _:genid-371333f489424440b12a13b9d98ced822608-genid12498; , ; ; "PMID:19918004"; "A longitudinal study of young people with type 1 diabetes in England, set up in 2000 within the Genetic Resource Investigating Diabetes (GRID) study of the JDRF/Wellcome Trust Diabetes and Inflammation Laboratory. In 2000–2005 it recruited adolescents aged 10–16 years who had developed type 1 diabetes before the age of 16 in East Anglia, Birmingham, Bristol and Oxford, together with their parents. It followed them with annual urinary albumin-to-creatinine ratios and HbA1c measurements for phenotypic and genetic study of the early pathogenesis of microalbuminuria."; 1066; "NFS", "UK Nephropathy Family Study"; rdfs:label "Nephropathy Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12496 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12498 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2cf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12496; "microalbuminuria"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2809284/fullTextXML"; rdfs:comment "The study population was composed of young people with type 1 diabetes and their parents recruited in the Nephropathy Family Study (NFS)." . _:2cf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12498; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2809284/fullTextXML"; rdfs:comment "The study population was composed of young people with type 1 diabetes and their parents recruited in the Nephropathy Family Study (NFS)." . _:2cfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3064014/fullTextXML"; rdfs:comment "Between 2000 and 2005, the NFS recruited adolescents aged 10–16 years with type 1 diabetes throughout England (8)." . _:2cfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2809284/fullTextXML"; rdfs:comment "The NFS was set up in 2000 as part of the Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes Inflammation Laboratory: Genetic Resource Investigating Diabetes (GRID) study (14)." . _:2cfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19918004"; "Maternal but not paternal association of ambulatory blood pressure with albumin excretion in young offspring with type 1 diabetes."; "PMID:19918004", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2809284/fullTextXML"; rdfs:comment "The study population was composed of young people with type 1 diabetes and their parents recruited in the Nephropathy Family Study (NFS)." . _:2cfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of young people with type 1 diabetes in England, set up in 2000 within the Genetic Resource Investigating Diabetes (GRID) study of the JDRF/Wellcome Trust Diabetes and Inflammation Laboratory. In 2000–2005 it recruited adolescents aged 10–16 years who had developed type 1 diabetes before the age of 16 in East Anglia, Birmingham, Bristol and Oxford, together with their parents. It followed them with annual urinary albumin-to-creatinine ratios and HbA1c measurements for phenotypic and genetic study of the early pathogenesis of microalbuminuria."; "PMID:19171721", "PMID:19918004"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2cfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1066; "young people with type 1 diabetes recruited 2000-2005 (parents not counted)"; "PMID:19918004"; rdfs:comment "Between 2000 and 2005, 1,066 subjects, aged 10–16 years, who had developed type 1 diabetes before the age of 16 years, were recruited throughout four English regions (East Anglia, Birmingham, Bristol, and Oxford) for detailed phenotypic and genetic study of the early pathogenesis of microalbuminuria." . _:2cff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12506; , , , , , , ; ; "GCST90094651"; "A case-control study of breast cancer in women aged 18 or older, begun in 1998 in Ibadan, Nigeria. Women with invasive breast cancer are recruited at University College Hospital, Ibadan (from 2014 also at Lagos State University Teaching Hospital). Women without cancer are enrolled as controls from the hospital's outpatient clinics and from communities randomly selected in its catchment area. Enrolment was extended to Cameroon and Uganda in 2011 with the same questionnaire and protocol. It collects questionnaire data and biospecimens to study epidemiological and inherited risk factors for breast cancer in African women."; "The acronym NBCS also denotes Nijmegen Bladder Cancer Study (COHO:0000572) and Norwegian Breast Cancer Study (COHO:0000573); this term is Nigerian Breast Cancer Study."@en; 1233; 1101; "NBCS", "NigBCS", "Nigerian breast cancer study"; ; rdfs:label "Nigerian Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12506 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12506; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12008756/fullTextXML"; rdfs:comment "The NBCS started enrolling women with breast cancer (hereafter cases) and women without breast cancer (hereafter controls) in Nigeria in 1998 and, in 2011, enrollment was extended to Cameroon and Uganda using the same questionnaire and protocol." . _:2d012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12008756/fullTextXML"; rdfs:comment "The NBCS started enrolling women with breast cancer (hereafter cases) and women without breast cancer (hereafter controls) in Nigeria in 1998 and, in 2011, enrollment was extended to Cameroon and Uganda using the same questionnaire and protocol." . _:2d022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094651"; "Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis."; "PMID:34706928", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2d032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer in women aged 18 or older, begun in 1998 in Ibadan, Nigeria. Women with invasive breast cancer are recruited at University College Hospital, Ibadan (from 2014 also at Lagos State University Teaching Hospital). Women without cancer are enrolled as controls from the hospital's outpatient clinics and from communities randomly selected in its catchment area. Enrolment was extended to Cameroon and Uganda in 2011 with the same questionnaire and protocol. It collects questionnaire data and biospecimens to study epidemiological and inherited risk factors for breast cancer in African women."; "PMID:20716701", "PMID:30130155", "PMID:40249615"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1233; "invasive breast cancer cases and controls recruited in Ibadan 1998-2009"; "PMID:20716701"; rdfs:comment "Between 1998 and 2009, 1,233 invasive breast cancer cases and 1,101 controls were recruited." . _:2d052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1101; "invasive breast cancer cases and controls recruited in Ibadan 1998-2009"; "PMID:20716701"; rdfs:comment "Between 1998 and 2009, 1,233 invasive breast cancer cases and 1,101 controls were recruited." . _:2d062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBCS"; . _:2d072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NigBCS"; . a owl:NamedIndividual, ; , ; "GCST90833064"; "A national registry of joint replacement surgery, set up by the Department of Health and the Welsh Government, that has recorded hip and knee replacements since April 2003 (ankle, elbow and shoulder replacements since 2010–2012) in NHS and independent hospitals in England and Wales, joined by Northern Ireland in 2013, the Isle of Man in 2015, Guernsey in 2019 and Jersey in 2025. Each procedure is recorded with the implant used and, with the patient's consent, the patient's details, to monitor the outcomes of implants, hospitals and surgeons."; "NJR", "National Joint Registry for England and Wales", "National Joint Registry for England, Wales, Northern Ireland, and the Isle of Man", "National Joint Registry for England, Wales, Northern Ireland, the Isle of Man and the States of Guernsey"; ; rdfs:label "National Joint Registry"@en . _:2d082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13035913/supplementaryFiles"; rdfs:comment "NJR descriptive: The National Joint Registry for England, Wales, Northern Ireland, and the Isle of Man (NJR, http://www.njrcentre.org.uk/)" . _:2d092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833064"; "Genetic study identifies novel genes in developmental dysplasia of the hip."; "PMID:41912496", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13035913/fullTextXML"; rdfs:comment "The DDH samples were identified from the National Joint Registry cohort, which at the time included 5 411 adult individuals living in England who had undergone a hip replacement surgery for DDH." . _:2d0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national registry of joint replacement surgery, set up by the Department of Health and the Welsh Government, that has recorded hip and knee replacements since April 2003 (ankle, elbow and shoulder replacements since 2010–2012) in NHS and independent hospitals in England and Wales, joined by Northern Ireland in 2013, the Isle of Man in 2015, Guernsey in 2019 and Jersey in 2025. Each procedure is recorded with the implant used and, with the patient's consent, the patient's details, to monitor the outcomes of implants, hospitals and surgeons."; "https://www.njrcentre.org.uk/about-the-njr/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12519, _:genid-371333f489424440b12a13b9d98ced822608-genid12521; , ; "GCST90565134"; "A biobank of biological samples, including DNA, and clinical information from volunteers in the United States with psoriasis or psoriatic arthritis and from unaffected controls. The National Psoriasis Foundation created it in 2006, with the financial backing of the Henschel family, to advance genetic research on psoriatic disease. Its samples were made available to researchers internationally for case-control and family studies until the biobank was retired in 2025."; "Henschel Biobank", "NPF", "National Psoriasis Foundation Victor Henschel Tissue Repository", "National Psoriasis Victor Henschel Biobank", "Victor Henschel Biobank"; ; rdfs:label "National Psoriasis Victor Henschel BioBank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12519 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12521 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12519; "psoriasis"; "https://www.psoriasis.org/victor-henschel-biobank/"; rdfs:comment "Indeed, similar studies using the Henschel biobank reported the differences in the genes that contribute to the risk of psoriatic arthritis versus the more common skin presentations we think of as psoriasis [5]." . _:2d0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12521; "psoriatic arthritis"; "https://www.psoriasis.org/victor-henschel-biobank/"; rdfs:comment "Indeed, similar studies using the Henschel biobank reported the differences in the genes that contribute to the risk of psoriatic arthritis versus the more common skin presentations we think of as psoriasis [5]." . _:2d0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4423213/fullTextXML"; rdfs:comment "We thank the National Psoriasis Foundation for provision of US replication samples." . _:2d0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90565134"; "Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis."; "PMID:39885523", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11783861/supplementaryFiles"; rdfs:comment "For the PsA GWAS, 1,526 PsA case subjects and 1,508 unaffected control subjects North American (American and Canadian population) were recruited by four collection centers—Michigan, Toronto, Newfoundland, and the National Psoriasis Foundation." . _:2d102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of biological samples, including DNA, and clinical information from volunteers in the United States with psoriasis or psoriatic arthritis and from unaffected controls. The National Psoriasis Foundation created it in 2006, with the financial backing of the Henschel family, to advance genetic research on psoriatic disease. Its samples were made available to researchers internationally for case-control and family studies until the biobank was retired in 2025."; "PMID:26626624", "PMID:32725812", "https://www.psoriasis.org/victor-henschel-biobank/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPF"; . a owl:NamedIndividual, ; , , ; "GCST90671959"; "A population-based prospective cohort of Han Chinese adults, a sub-project of China's National Science & Technology Basic Research Project, recruited as volunteers in four sub-cohorts in Taizhou (Jiangsu province; 2015 and 2019), Zhengzhou (Henan province; 2017) and Nanning (Guangxi province; 2018). Participants were photographed and assessed for physical traits such as facial, ear and fingerprint features, and gave blood for genotyping and for DNA methylation, proteomic and metabolomic profiling, to study the genetic and molecular basis of human physical traits and common diseases."; 3557; "NSPT", "National Survey of Physical Traits Project", "National Survey of Physical Traits Study"; ; rdfs:label "National Survey of Physical Traits"@en . _:2d122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10351707/fullTextXML"; rdfs:comment "The National Survey of Physical Traits Study (NSPT) is part of the National Science & Technology Basic Research Project, which contained four sub-cohorts collected from three different regions of China in different years: Taizhou, Jiangsu province in 2015 and 2019, Zhengzhou, Henan province in 2017, Nanning, Guangxi province in 2018." . _:2d132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90671959"; "GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction."; "PMID:37565938" . _:2d142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of Han Chinese adults, a sub-project of China's National Science & Technology Basic Research Project, recruited as volunteers in four sub-cohorts in Taizhou (Jiangsu province; 2015 and 2019), Zhengzhou (Henan province; 2017) and Nanning (Guangxi province; 2018). Participants were photographed and assessed for physical traits such as facial, ear and fingerprint features, and gave blood for genotyping and for DNA methylation, proteomic and metabolomic profiling, to study the genetic and molecular basis of human physical traits and common diseases."; "PMID:34995520", "PMID:37459304", "PMID:40118068", "PMID:40938633"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3557; "volunteers recruited in Zhengzhou, Taizhou and Nanning"; "PMID:40938633"; rdfs:comment "Samples in the NSPT cohort included 3,557 Chinese individuals recruited as volunteers from three regional districts in China: Zhengzhou, Taizhou, and Nanning." . _:2d162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSPT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12532; , , , , , , , ; "GCST90833053"; "A consortium formed in 2015 around the New York Genome Center, through which 41 ALS clinics and research institutions in the United States, the United Kingdom, the Netherlands, Greece and Israel contribute blood and post-mortem brain and spinal cord tissue from people with amyotrophic lateral sclerosis, other neurological diseases and non-neurological controls. The samples are whole-genome and RNA sequenced at the New York Genome Center and their clinical data harmonised into an openly accessible genomic resource for ALS research."; 4828; "NYGC ALS Consortium", "NYGC ALS consortium", "NYG_ALS", "The New York Genome Center's ALS Consortium"; ; rdfs:label "New York Genome Center ALS Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12532 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12532; "amyotrophic lateral sclerosis"; "https://www.medrxiv.org/content/10.64898/2026.04.29.26350889v1.full-text"; rdfs:comment "Here we present the full NYGC ALS Consortium dataset, comprising WGS on 4,746 donors and RNA-seq from 8 major brain and spinal cord tissues from a cohort of 695 individuals presenting with ALS, other neurological diseases, and non-neurological controls." . _:2d182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.medrxiv.org/content/10.64898/2026.04.29.26350889v1.full-text"; rdfs:comment "Blood and autopsy tissue samples were obtained from 41 ALS clinics and research institutions spanning the USA, the UK, the Netherlands, Greece, and Israel (Fig. 1A)." . _:2d192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833053"; "Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis."; "PMID:41917433", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13083253/fullTextXML"; rdfs:comment "Case cohorts included the Project MinE ALS sequencing consortium (7,614 cases; 2,605 controls)47, the NYGC ALS Consortium (2,650 cases; 342 controls), the ALS Sequencing Consortium (2,851 cases)5, two cohorts from the FALS consortium (1,277 cases; phs001585), the National Institutes of Health (NIH) Exome Sequencing of FALS Project (194 cases; phs000101), two Australian cohorts described in ref. 48 (125 cases, 18 controls) and ref. 49 (568 cases), and a Chinese motor neurone disease (MND) cohort50 (583 cases, 182 controls)." . _:2d1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium formed in 2015 around the New York Genome Center, through which 41 ALS clinics and research institutions in the United States, the United Kingdom, the Netherlands, Greece and Israel contribute blood and post-mortem brain and spinal cord tissue from people with amyotrophic lateral sclerosis, other neurological diseases and non-neurological controls. The samples are whole-genome and RNA sequenced at the New York Genome Center and their clinical data harmonised into an openly accessible genomic resource for ALS research."; "https://www.medrxiv.org/content/10.64898/2026.04.29.26350889v1.full-text"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4828; "donors whole-genome sequenced (4,746 passed QC), 2026"; "https://www.medrxiv.org/content/10.64898/2026.04.29.26350889v1.full-text"; rdfs:comment "WGS was performed on 4,828 donors, with a final set of 4,746 passing quality control." . _:2d1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NYG_ALS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12539; , ; "GCST90432152"; "A case-control study of abdominal aortic aneurysm (AAA) in New Zealand. The Vascular Research Consortium of New Zealand recruited men and women with AAA (infrarenal aortic diameter of at least 30 mm on ultrasound or CT scan, about 80% after surgical repair), nearly all of Anglo-European ancestry, and elderly Anglo-European controls in whom AAA was excluded by abdominal ultrasound and who were also screened for peripheral and carotid artery disease. Its participants were genotyped in two genome-wide case-control sets for genetic studies of AAA."; "NZ", "NZ-VAS", "New Zealand (NZ) Vascular Genetics Study AAA GWAS dataset", "New Zealand Vascular Genetic Study AAA GWAS dataset"; ; rdfs:label "NZ AAA Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12539 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12539; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "NZ AAA Genetics Study: The Vascular Research Consortium of New Zealand recruited New Zealand men and women with a proven history of AAA (infra-renal aortic diameter ≥ 30 mm proven on ultrasound or CT scan)." . _:2d1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "NZ AAA Genetics Study: The Vascular Research Consortium of New Zealand recruited New Zealand men and women with a proven history of AAA (infra-renal aortic diameter ≥ 30 mm proven on ultrasound or CT scan)." . _:2d1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432152"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/fullTextXML"; rdfs:comment "These 14 discovery cohorts are as follows: (1) Atherosclerosis Risk in Communities (ARIC); (2) Copenhagen Hospital Biobank—Cardiovascular Disease Cohort and Danish Blood Donor Study (CHB-CVDC+DBDS); (3) Cardiovascular Health Improvement Project and Michigan Genomics Initiative (CHIP + MGI); (4) deCODE; (5) DiscovEHR; (6) Electronic Medical Records and Genomics (eMERGE); (7) Trøndelag Health study (HUNT), (8) Mayo Vascular Disease Biorepository (Mayo VDB); (9) MVP; (10) NZ AAA Genetics Study; (11) Penn Medicine biobank (PMBB); (12) Triple A Barcelona Study (TABS); (13) UKAGS and Viborg Vascular (UKAGS+VIVA); (14) UKBB (Supplementary Fig. 16)." . _:2d202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of abdominal aortic aneurysm (AAA) in New Zealand. The Vascular Research Consortium of New Zealand recruited men and women with AAA (infrarenal aortic diameter of at least 30 mm on ultrasound or CT scan, about 80% after surgical repair), nearly all of Anglo-European ancestry, and elderly Anglo-European controls in whom AAA was excluded by abdominal ultrasound and who were also screened for peripheral and carotid artery disease. Its participants were genotyped in two genome-wide case-control sets for genetic studies of AAA."; "PMID:27899403", "PMID:37845353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NZ"; . _:2d222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NZ-VAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12546; ; , , , , , , , , , , , ; "GCST90554823"; "An international consortium that pools data from case-control studies of pancreatic cancer, conducted in North America, Europe, China and Australia, to study risk factors such as tobacco and alcohol use, diabetes and pancreatitis; cases and controls from several member studies were also genotyped together for a genome-wide association study of pancreatic cancer."; 4164; 3792; 7956; "International Pancreatic Cancer Case-Control Consortium", "PanC4", "Panc4", "Pancreatic Cancer Case-Control", "The Pancreatic Cancer Case-Control Consortium"; ; rdfs:label "Pancreatic Cancer Case-Control Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12546 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12546; "pancreatic cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22104574+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from 12 case-control studies within the International Pancreatic Cancer Case-Control Consortium (PanC4), including 6507 pancreatic cases and 12 890 controls." . _:2d242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; rdfs:comment "The studies included in PanScan (PanScan II) from PanC4 are: PACIFIC Study of Group Health and Northern California Kaiser Permanente Johns Hopkins University Mayo Clinic SPORE in Pancreatic Cancer MD Anderson Cancer Center Memorial Sloan Kettering Cancer Center University of California San Francisco University of Toronto Yale University" . _:2d252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000648.v1.p1"; rdfs:comment "The studies were drawn from the Pancreatic Cancer Case-Control consortium and include case-control studies from the United States, Europe and Australia." . _:2d262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3387822"; rdfs:comment "Eight studies [7–14] (including the unpublished Louisiana State University study) were conducted in North America, two in Europe [15, 16], and one in China [17], and one was the International Agency for Research on Cancer- coordinated Surveillance of Environmental Aspects Related to Cancer in Humans (SEARCH) study from Canada, Europe, and Australia [18]." . _:2d272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3139985"; rdfs:comment "The Italian multicentric study [22] included 322 cases with incident pancreatic cancer (histologically, 55%, or imaging confirmed) identified between 1991 and 2008 in the major teaching and general hospitals in the provinces of Pordenone and Greater Milan and 652 hospital controls, frequency matched to cases by sex, age and area of residence." . _:2d282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3139985"; rdfs:comment "The Surveillance of Environmental Aspects Related to Cancer in Humans (SEARCH) study [11] was a collaborative study of the International Agency for Research on Cancer including 810 cases and 1679 controls matched by age and sex collected in the 1980s in Toronto and Montreal, Canada, Utrecht, The Netherlands, Opole, Poland and Adelaide, Australia, based upon a random sample from the population at risk." . _:2d292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90554823"; "Genome-Wide Analysis to Assess if Heavy Alcohol Consumption Modifies the Association between SNPs and Pancreatic Cancer Risk."; "PMID:38869494", "https://europepmc.org/api/getPdf?pmcid=PMC11928872"; rdfs:comment "Data from study participants in three previously conducted genome-wide association studies of pancreatic ductal adenocarcinoma in European ancestry populations, the PanScan I-II studies, and the PanC4 study (Figure 1) were used in these analyses." . _:2d2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that pools data from case-control studies of pancreatic cancer, conducted in North America, Europe, China and Australia, to study risk factors such as tobacco and alcohol use, diabetes and pancreatitis; cases and controls from several member studies were also genotyped together for a genome-wide association study of pancreatic cancer."; "PMID:22104574", "PMID:26098869", "PMID:26646264"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4164; "cases and controls genotyped in the PanC4 GWAS after QC (9 member studies), 2015"; "PMID:26098869"; rdfs:comment "After quality control (Online Methods, Fig. 1, Supplementary Table 2), 7,956 individuals (4,164 cases and 3,792 controls) and 654,470 SNPs with call rates greater than 98% were analyzed." . _:2d2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3792; "cases and controls genotyped in the PanC4 GWAS after QC (9 member studies), 2015"; "PMID:26098869"; rdfs:comment "After quality control (Online Methods, Fig. 1, Supplementary Table 2), 7,956 individuals (4,164 cases and 3,792 controls) and 654,470 SNPs with call rates greater than 98% were analyzed." . _:2d2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7956; "cases and controls genotyped in the PanC4 GWAS after QC (9 member studies), 2015"; "PMID:26098869"; rdfs:comment "After quality control (Online Methods, Fig. 1, Supplementary Table 2), 7,956 individuals (4,164 cases and 3,792 controls) and 654,470 SNPs with call rates greater than 98% were analyzed." . _:2d2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PanC4"; . _:2d2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Panc4"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12560; , ; "GCST004713"; "A case-control study of inherited susceptibility to testicular germ cell tumour at the University of Pennsylvania, Philadelphia, whose genome-wide association scan compared men with testicular germ cell tumour seen at the University of Pennsylvania Health System or Fox Chase Cancer Center with male controls from the Philadelphia region drawn from the PennCATH study."; "The acronym Penn also denotes Penn Medicine BioBank (COHO:0000457); this term is UPenn Local TGCT Study."@en; 277; 919; "Inherited Genetic Variation and Predisposition to Testicular Germ Cell Tumor: UPenn Local TGCT Study", "Penn", "Penn GWAS", "UPENN", "UPenn"; ; rdfs:label "UPenn Local TGCT Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12560 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12560; "testicular germ cell tumor"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2865677/"; rdfs:comment "Cases were 277 white, non-Hispanic men with pathologically defined TGCT seen at the University of Pennsylvania Health System (UPHS) or Fox Chase Cancer Center (FCCC) in Philadelphia, PA." . _:2d312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2865677/"; rdfs:comment "Cases were 277 white, non-Hispanic men with pathologically defined TGCT seen at the University of Pennsylvania Health System (UPHS) or Fox Chase Cancer Center (FCCC) in Philadelphia, PA." . _:2d322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST004713"; "Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor."; "PMID:28604732", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5490654/fullTextXML"; rdfs:comment "The Penn GWAS (Penn) was supported by the Abramson Cancer Center at the University of Pennsylvania and National Institute of Health grant CA114478 to KLN and PAK." . _:2d332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of inherited susceptibility to testicular germ cell tumour at the University of Pennsylvania, Philadelphia, whose genome-wide association scan compared men with testicular germ cell tumour seen at the University of Pennsylvania Health System or Fox Chase Cancer Center with male controls from the Philadelphia region drawn from the PennCATH study."; "PMID:19483682", "PMID:28604732", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001307.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 277; "TGCT cases and PennCATH male controls in the 2009 genome-wide scan"; "PMID:19483682"; rdfs:comment "We performed a genome-wide scan among 277 TGCT cases and 919 controls." . _:2d352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 919; "TGCT cases and PennCATH male controls in the 2009 genome-wide scan"; "PMID:19483682"; rdfs:comment "We performed a genome-wide scan among 277 TGCT cases and 919 controls." . _:2d362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Penn"; . _:2d372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPENN"; . _:2d382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPenn"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12570, _:genid-371333f489424440b12a13b9d98ced822608-genid12572, _:genid-371333f489424440b12a13b9d98ced822608-genid12574, _:genid-371333f489424440b12a13b9d98ced822608-genid12576; , , , , , , ; "GCST90838706"; "A prospective, longitudinal observational study of the CReATe Consortium (Clinical Research in ALS and Related Disorders for Therapeutic Development), led from the University of Miami, that from 2014 enrolled patients with familial or sporadic amyotrophic lateral sclerosis or a related disorder (primary lateral sclerosis, progressive muscular atrophy, hereditary spastic paraplegia, frontotemporal dementia or multisystem proteinopathy), and some of their family members, at clinical sites in the United States, South Africa and Germany, with repeated motor, cognitive and functional assessments and collection of blood, urine and cerebrospinal fluid, to study phenotype-genotype relationships and develop biomarkers for therapy development."; 705; "CReATe Consortium's Phenotype-Genotype-Biomarker study", "PGB", "PGB1", "Phenotype Genotype Biomarker study", "Phenotype-Genotype and Biomarker Study of the CReATe Consortium", "Phenotype-Genotype-Biomarker study"; ; rdfs:label "Phenotype, Genotype & Biomarkers in ALS and Related Disorders"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12570 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12572 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12574 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12576 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12570; "amyotrophic lateral sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11415817/fullTextXML"; rdfs:comment "The PGB study enrolled 705 patients with ALS (n = 472), primary lateral sclerosis (n = 47), progressive muscular atrophy (n = 20), hereditary spastic paraplegia (n = 162) and other related disorders (n = 4)." . _:2d3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12572; "primary lateral sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11415817/fullTextXML"; rdfs:comment "The PGB study enrolled 705 patients with ALS (n = 472), primary lateral sclerosis (n = 47), progressive muscular atrophy (n = 20), hereditary spastic paraplegia (n = 162) and other related disorders (n = 4)." . _:2d3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12574; "progressive muscular atrophy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11415817/fullTextXML"; rdfs:comment "The PGB study enrolled 705 patients with ALS (n = 472), primary lateral sclerosis (n = 47), progressive muscular atrophy (n = 20), hereditary spastic paraplegia (n = 162) and other related disorders (n = 4)." . _:2d3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12576; "hereditary spastic paraplegia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11415817/fullTextXML"; rdfs:comment "The PGB study enrolled 705 patients with ALS (n = 472), primary lateral sclerosis (n = 47), progressive muscular atrophy (n = 20), hereditary spastic paraplegia (n = 162) and other related disorders (n = 4)." . _:2d3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11415817/fullTextXML"; rdfs:comment "The Independent Ethics Committee (IEC) of the University of Tubingen approved the study in Germany (IEC-Project Number: 361/2017B01), but none of the Tubingen participants met eligibility criteria for this analysis." . _:2d3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11415817/fullTextXML"; rdfs:comment "Patients with ALS were enrolled (between 2014 and 2019) at 12 centers in the United States and 1 center in South Africa through the prospective Phenotype-Genotype-Biomarker (PGB) study (registered at clinicaltrials.gov NCT02327845) of the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium." . _:2d3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90838706"; "Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype."; "PMID:39079071", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39079071+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Whole-genome sequencing (WGS) data were compared with ethnicity-matched patients with typically progressive ALS enrolled through the CReATe Consortium's Phenotype-Genotype-Biomarker (PGB) study." . _:2d402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, longitudinal observational study of the CReATe Consortium (Clinical Research in ALS and Related Disorders for Therapeutic Development), led from the University of Miami, that from 2014 enrolled patients with familial or sporadic amyotrophic lateral sclerosis or a related disorder (primary lateral sclerosis, progressive muscular atrophy, hereditary spastic paraplegia, frontotemporal dementia or multisystem proteinopathy), and some of their family members, at clinical sites in the United States, South Africa and Germany, with repeated motor, cognitive and functional assessments and collection of blood, urine and cerebrospinal fluid, to study phenotype-genotype relationships and develop biomarkers for therapy development."; "PMID:39270623", "https://clinicaltrials.gov/api/v2/studies/NCT02327845", "https://create.rarediseasesnetwork.org/research-study/8001"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 705; "patients with ALS or a related disorder enrolled (primary participants), 2019"; "PMID:39270623"; rdfs:comment "The PGB study enrolled 705 patients with ALS (n = 472), primary lateral sclerosis (n = 47), progressive muscular atrophy (n = 20), hereditary spastic paraplegia (n = 162) and other related disorders (n = 4)." . _:2d422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGB"; . _:2d432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGB1"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12585; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90277419"; "An international, phase III, randomised, double-blind trial funded by AstraZeneca that enrolled patients hospitalised with acute coronary syndrome (ST-elevation ACS scheduled for primary percutaneous coronary intervention, or non-ST-elevation ACS) at 862 centres in 43 countries between October 2006 and July 2008, to compare ticagrelor with clopidogrel for preventing death from vascular causes, myocardial infarction and stroke; blood samples from its genetic and biomarker substudies have been used for genome-wide association studies."; 18624; "PLATO", "PLATO trial", "PLATelet Inhibition and Patient Outcomes", "PLATelet inhibition and patient Outcomes trial", "Platelet Inhibition and Patient Outcomes"; ; rdfs:label "PLATelet inhibition and patient Outcomes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12585 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12585; "acute coronary syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3117310/fullTextXML"; rdfs:comment "The PLATO trial recruited 18 624 patients with acute coronary syndrome (with or without ST elevation) from 862 centres in 43 countries between October 2006 and July 2008." . _:2d452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Adrogué\",\"state\":\"Buenos Aires\",\"country\":\"Argentina\"" . _:2d462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Bruce\",\"state\":\"Australian Capital Territory\",\"country\":\"Australia\"" . _:2d472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Feldkirch\",\"country\":\"Austria\"" . _:2d482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Aalst\",\"state\":\"Belgium\",\"country\":\"Belgium\"" . _:2d492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Maceió\",\"state\":\"Alagoas\",\"country\":\"Brazil\"" . _:2d4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Burgas\",\"country\":\"Bulgaria\"" . _:2d4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Calgary\",\"state\":\"Alberta\",\"country\":\"Canada\"" . _:2d4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Beijing\",\"state\":\"China\",\"country\":\"China\"" . _:2d4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Brno\",\"state\":\"CZ\",\"country\":\"Czechia\"" . _:2d4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Copenhagen\",\"country\":\"Denmark\"" . _:2d4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Kokkola\",\"state\":\"Finland\",\"country\":\"Finland\"" . _:2d502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Abbeville\",\"country\":\"France\"" . _:2d512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Aschaffenburg\",\"country\":\"Germany\"" . _:2d522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Heraklion\",\"state\":\"Crete\",\"country\":\"Greece\"" . _:2d532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Hong Kong\",\"country\":\"Hong Kong\"" . _:2d542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Budapest\",\"country\":\"Hungary\"" . _:2d552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Hyderabad\",\"state\":\"Andhrapradesh\",\"country\":\"India\"" . _:2d562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Denpasar\",\"state\":\"Bali\",\"country\":\"Indonesia\"" . _:2d572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Afula\",\"country\":\"Israel\"" . _:2d582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Ancona\",\"state\":\"AN\",\"country\":\"Italy\"" . _:2d592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Kuala Lumpur\",\"state\":\"Kuala Lumpur\",\"country\":\"Malaysia\"" . _:2d5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Durango\",\"state\":\"Durango\",\"country\":\"Mexico\"" . _:2d5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Alkmaar\",\"country\":\"Netherlands\"" . _:2d5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Arendal\",\"country\":\"Norway\"" . _:2d5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Pasig\",\"state\":\"Philippines\",\"country\":\"Philippines\"" . _:2d5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Bialystok\",\"country\":\"Poland\"" . _:2d5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Amadora\",\"country\":\"Portugal\"" . _:2d602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Piteşti\",\"state\":\"Argeş\",\"country\":\"Romania\"" . _:2d612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Khanty-Mansiysk\",\"state\":\"Khanty-mansiysk Autonomous Dis\",\"country\":\"Russia\"" . _:2d622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Singapore\",\"state\":\"Singapore\",\"country\":\"Singapore\"" . _:2d632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Bratislava\",\"country\":\"Slovakia\"" . _:2d642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Cape Town\",\"state\":\"Cape Town\",\"country\":\"South Africa\"" . _:2d652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Seongnam\",\"state\":\"Gyeonggido\",\"country\":\"South Korea\"" . _:2d662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Málaga\",\"state\":\"Andalusia\",\"country\":\"Spain\"" . _:2d672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Borås\",\"country\":\"Sweden\"" . _:2d682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Mendrisio\",\"state\":\"Canton Ticino\",\"country\":\"Switzerland\"" . _:2d692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Niao-song-shiang\",\"state\":\"Kaohsiung\",\"country\":\"Taiwan\"" . _:2d6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Bangkok\",\"state\":\"Bangkok\",\"country\":\"Thailand\"" . _:2d6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Istanbul\",\"state\":\"Kartal\",\"country\":\"Turkey (Türkiye)\"" . _:2d6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Dnipro\",\"country\":\"Ukraine\"" . _:2d6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Airdrie\",\"state\":\"Lanarkshire\",\"country\":\"United Kingdom\"" . _:2d6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00391872"; rdfs:comment "\"city\":\"Birmingham\",\"state\":\"Alabama\",\"country\":\"United States\"" . _:2d6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90277419"; "Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease."; "PMID:36869765", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36869765+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Levels of VEGF biomarkers, including bFGF, Flt-1, KDR (VEGFR2), PlGF, Tie-2, VEGF-A, VEGF-C, and VEGF-D, were measured in the PLATO ACS cohort (n = 2091, discovery cohort)." . _:2d702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international, phase III, randomised, double-blind trial funded by AstraZeneca that enrolled patients hospitalised with acute coronary syndrome (ST-elevation ACS scheduled for primary percutaneous coronary intervention, or non-ST-elevation ACS) at 862 centres in 43 countries between October 2006 and July 2008, to compare ticagrelor with clopidogrel for preventing death from vascular causes, myocardial infarction and stroke; blood samples from its genetic and biomarker substudies have been used for genome-wide association studies."; "PMID:19332184", "PMID:21685437", "PMID:36869765"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18624; "patients with acute coronary syndrome randomised (2008)"; "PMID:19717846"; rdfs:comment "In this multicenter, double-blind, randomized trial, we compared ticagrelor (180-mg loading dose, 90 mg twice daily thereafter) and clopidogrel (300-to-600-mg loading dose, 75 mg daily thereafter) for the prevention of cardiovascular events in 18,624 patients admitted to the hospital with an acute coronary syndrome, with or without ST-segment elevation." . _:2d722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLATO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12633; , ; "GCST90624455"; "A UK research study sponsored by Guy's and St Thomas' NHS Foundation Trust and run as the sister mechanistic study of the APRICOT trial of anakinra, which recruited people with pustular psoriasis through specialist dermatology centres across the UK, together with disease controls, healthy volunteers and patients' relatives, and collected blood and optional skin and hair samples to identify genes, immune pathways and treatment responses involved in pustular psoriasis."; 161; "PLUM", "Pustular psoriasis: eLucidating Underlying Mechanisms"; ; rdfs:label "Pustular Psoriasis, Elucidating Underlying Mechanisms"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12633 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12633; "pustular psoriasis"; "https://www.medrxiv.org/content/medrxiv/early/2024/01/17/2024.01.17.24301406.full.pdf"; rdfs:comment "The UK dataset included 288 affected individuals of European descent, who were recruited in specialist dermatology centers as part of the APRICOT clinical trial4 and its sister study PLUM." . _:2d742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32936291+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A UK data set including 203 patients was obtained through the Anakinra in Pustular Psoriasis, Response in a Controlled Trial (2016-2019) and its sister research study Pustular Psoriasis, Elucidating Underlying Mechanisms (2016-2020)." . _:2d752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90624455"; "A genome-wide meta-analysis of palmoplantar pustulosis implicates TH2 responses and cigarette smoking in disease pathogenesis."; "PMID:38815935", "https://www.medrxiv.org/content/medrxiv/early/2024/01/17/2024.01.17.24301406.full.pdf"; rdfs:comment "The UK dataset included 288 affected individuals of European descent, who were recruited in specialist dermatology centers as part of the APRICOT clinical trial4 and its sister study PLUM." . _:2d762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK research study sponsored by Guy's and St Thomas' NHS Foundation Trust and run as the sister mechanistic study of the APRICOT trial of anakinra, which recruited people with pustular psoriasis through specialist dermatology centres across the UK, together with disease controls, healthy volunteers and patients' relatives, and collected blood and optional skin and hair samples to identify genes, immune pathways and treatment responses involved in pustular psoriasis."; "PMID:30036598", "PMID:32936291", "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/plum/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 161; "patients with palmoplantar pustulosis enrolled through PLUM 2016-2020 (analysed subset only)"; "PMID:32936291"; rdfs:comment "The remaining 161 patients were enrolled between 2016 and 2020 through the sister research study Pustular Psoriasis, Elucidating Underlying Mechanisms (PLUM)." . _:2d782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLUM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12640; , ; "GCST90455614"; "A case-control genetic study of primary open-angle glaucoma led by the University of Pennsylvania's Scheie Eye Institute, which since July 2010 has enrolled self-identified Black adults (African American, African descent or African Caribbean) aged 35 or over from the Philadelphia region, mainly from University of Pennsylvania eye clinics and also through community screenings, two other Philadelphia ophthalmology practices and the Penn Medicine Biobank, with glaucoma specialists classifying them as cases, controls or glaucoma suspects, to identify genetic and clinical risk factors for the disease."; 10255; "POAAGG", "Primary Open-Angle African American Glaucoma Genetics study", "primary open-angle African American glaucoma genetics study"; ; rdfs:label "Primary Open-Angle African American Glaucoma Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12640 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12640; "primary open-angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25576993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Of the 2520 African Americans recruited to the POAAGG study to date, 2067 (82.0%), including 807 controls and 1260 POAG cases, met all inclusion criteria and completed the detailed clinical ocular examination." . _:2d7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40782885+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were recruited from ophthalmology clinics in Philadelphia between July 2010 and August 2024." . _:2d7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90455614"; "A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma."; "PMID:38242088", "https://europepmc.org/api/getPdf?pmcid=PMC11844349"; rdfs:comment "In brief, the POAAGG study population consists of self-identified Blacks (African American, African descent, or African Caribbean), aged 35 years or older, recruited from the Philadelphia area." . _:2d7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genetic study of primary open-angle glaucoma led by the University of Pennsylvania's Scheie Eye Institute, which since July 2010 has enrolled self-identified Black adults (African American, African descent or African Caribbean) aged 35 or over from the Philadelphia region, mainly from University of Pennsylvania eye clinics and also through community screenings, two other Philadelphia ophthalmology practices and the Penn Medicine Biobank, with glaucoma specialists classifying them as cases, controls or glaucoma suspects, to identify genetic and clinical risk factors for the disease."; "PMID:25576993", "PMID:28705151", "PMID:40782885"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10255; "individuals of African descent recruited (cases, controls and glaucoma suspects), 2024"; "PMID:40782885"; rdfs:comment "The Primary Open-Angle African American Glaucoma Genetics (POAAGG) study recruited 10,255 individuals of African descent from the Philadelphia area, representing the largest single-city study of POAG nationwide." . _:2d7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POAAGG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12647; ; , , , , , , , , , ; "GCST90833053"; "An international collaboration of amyotrophic lateral sclerosis research groups from about 16 countries, coordinated from the ALS Centre Netherlands at University Medical Center Utrecht and begun with a pilot in Dutch patients, in which people with ALS and matched controls are recruited through the groups' ALS clinics under a common protocol with a standardised core clinical data set and their whole genomes sequenced, to identify and fine-map genetic risk loci for ALS and share the data with researchers."; 8835; 2550; 11385; "Project MinE ALS Sequencing Consortium", "Project MinE ALS sequencing Consortium", "Project MinE ALS sequencing consortium", "Project_MinE_ALS"; ; rdfs:label "Project MinE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12647 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12647; "amyotrophic lateral sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6138692/fullTextXML"; rdfs:comment "Project MinE seeks to obtain sequencing data in 15,000 ALS patients and 7,500 matched controls with the aim of identifying new loci associated to ALS risk, fine-map known and novel loci, and provide a publicly-available summary-level dataset that will enable further genetic research of this and other diseases." . _:2d802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-00762-2/MediaObjects/41588_2020_762_MOESM1_ESM.pdf"; rdfs:comment "The control group consisted of a previously genotyped Dutch control population from project Mine (cohort NL4, as described in van Rheenen et al.5 )." . _:2d812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9799999/fullTextXML"; rdfs:comment "Samples were from the international Project MinE whole genome sequencing consortium and derived from seven countries: the USA, Ireland, Belgium, the Netherlands, Spain, Turkey, and the United Kingdom (van Rheenen et al., 2018)." . _:2d822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90833053"; "Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis."; "PMID:41917433", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13083253/fullTextXML"; rdfs:comment "Case cohorts included the Project MinE ALS sequencing consortium (7,614 cases; 2,605 controls)47, the NYGC ALS Consortium (2,650 cases; 342 controls), the ALS Sequencing Consortium (2,851 cases)5, two cohorts from the FALS consortium (1,277 cases; phs001585), the National Institutes of Health (NIH) Exome Sequencing of FALS Project (194 cases; phs000101), two Australian cohorts described in ref. 48 (125 cases, 18 controls) and ref. 49 (568 cases), and a Chinese motor neurone disease (MND) cohort50 (583 cases, 182 controls)." . _:2d832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaboration of amyotrophic lateral sclerosis research groups from about 16 countries, coordinated from the ALS Centre Netherlands at University Medical Center Utrecht and begun with a pilot in Dutch patients, in which people with ALS and matched controls are recruited through the groups' ALS clinics under a common protocol with a standardised core clinical data set and their whole genomes sequenced, to identify and fine-map genetic risk loci for ALS and share the data with researchers."; "PMID:29955173", "PMID:36589292", "https://projectmine.com/about/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8835; "DNA profiles (whole genomes) collected by Project MinE: ALS cases and controls (2026)"; "https://www.projectmine.com/"; rdfs:comment "DNA Profiles Collected Project MinE data 11385 Cases 8,835 Controls 2,550" . _:2d852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2550; "DNA profiles (whole genomes) collected by Project MinE: ALS cases and controls (2026)"; "https://www.projectmine.com/"; rdfs:comment "DNA Profiles Collected Project MinE data 11385 Cases 8,835 Controls 2,550" . _:2d862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11385; "DNA profiles (whole genomes) collected by Project MinE: ALS cases and controls (2026)"; "https://www.projectmine.com/"; rdfs:comment "DNA Profiles Collected Project MinE data 11385 Cases 8,835 Controls 2,550" . _:2d872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Project_MinE_ALS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12657, _:genid-371333f489424440b12a13b9d98ced822608-genid12659; , ; "GCST90897930"; "A prospective multicentre observational study of children and adolescents aged 3–20 years with sickle cell disease, examined at steady state, and of controls without the disease matched by age, sex and ethnicity, recruited at Howard University Hospital and Children's National Medical Center in Washington, DC, and the University of Michigan in Ann Arbor, with echocardiography, six-minute walk tests and blood markers, designed to identify factors in pre-symptomatic children that predict pulmonary hypertension and other cardiopulmonary complications."; 381; "PUSH", "Pulmonary Hypertension and Hypoxic Response in Sickle Cell Disease", "Pulmonary Hypertension and the Hypoxic Response in SCD"; ; rdfs:label "Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12657 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12659 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12657; "pulmonary hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19211639+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A prospective multicenter study of 310 patients aged 3-20 years old with sickle cell disease under basal conditions and 54 matched controls was conducted." . _:2d892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12659; "sickle cell disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19211639+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A prospective multicenter study of 310 patients aged 3-20 years old with sickle cell disease under basal conditions and 54 matched controls was conducted." . _:2d8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2776981/fullTextXML"; rdfs:comment "Participants were recruited at three centers: Howard University and Children's National Medical Center in Washington, DC and the University of Michigan in Ann Arbor, Michigan." . _:2d8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "The cohorts included: Cooperative Study of Sickle Cell Disease (CSSCD: n = 841), Multicenter Study of Hydroxyurea (MSH: n = 178), Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study (n = 73), Comprehensive Sickle Cell Centers Collaborative Data (C-data) project (n = 127), Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment (Walk-PHaSST) trial (n = 181), Duke University Outcome Modifying Genes study (n = 152), and Silent Infarct Transfusion (SIT) trial (SITT: n = 488)." . _:2d8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre observational study of children and adolescents aged 3–20 years with sickle cell disease, examined at steady state, and of controls without the disease matched by age, sex and ethnicity, recruited at Howard University Hospital and Children's National Medical Center in Washington, DC, and the University of Michigan in Ann Arbor, with echocardiography, six-minute walk tests and blood markers, designed to identify factors in pre-symptomatic children that predict pulmonary hypertension and other cardiopulmonary complications."; "PMID:19211639", "PMID:19956689"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 381; "children and adolescents with sickle cell anaemia (HbSS) recruited (HbSS subset only; controls and other genotypes excluded)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC3258348/unicode" . _:2d8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PUSH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12666, _:genid-371333f489424440b12a13b9d98ced822608-genid12668; , ; "GCST90709787"; "A research tissue bank at the UCL Queen Square Institute of Neurology in London that archives brains and other tissue from donors across the UK, registered through its donor scheme during life, who had neurological and mostly neurodegenerative diseases such as Parkinson's disease, multiple system atrophy and progressive supranuclear palsy, and from neurologically normal controls, and supplies well-characterised tissue and data for research."; "QSBB", "Queen Square Brain Bank"; ; rdfs:label "Queen Square Brain Bank for Neurological Disorders"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12666 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12668 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12666; "neurological diseases"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/queen-square-brain-bank-for-neurological-disorders-qsbb-and-neurores/"; rdfs:comment "Brain, spinal cord, cerebrospinal fluid and blood are collected from donors nationwide who have had a variety of neurological and neurodegenerative diseases." . _:2d902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12668; "neurodegenerative diseases"; "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/queen-square-brain-bank-for-neurological-disorders-qsbb-and-neurores/"; rdfs:comment "Brain, spinal cord, cerebrospinal fluid and blood are collected from donors nationwide who have had a variety of neurological and neurodegenerative diseases." . _:2d912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13545049/fullTextXML"; rdfs:comment "Fresh-frozen post-mortem brain samples were obtained from the Queen Square Brain Bank for Neurological Disorders in London, United Kingdom." . _:2d922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709787"; "Genome-wide determinants of mortality and motor progression in Parkinson's disease."; "PMID:38849413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "The Queen Square Brain Bank for Neurological Disorders (QSBB) is an archive of brains and tissue from individuals with neurodegenerative disease and neurologically normal controls." . _:2d932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research tissue bank at the UCL Queen Square Institute of Neurology in London that archives brains and other tissue from donors across the UK, registered through its donor scheme during life, who had neurological and mostly neurodegenerative diseases such as Parkinson's disease, multiple system atrophy and progressive supranuclear palsy, and from neurologically normal controls, and supplies well-characterised tissue and data for research."; "PMID:12784275", "PMID:38849413", "https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/queen-square-brain-bank-for-neurological-disorders-qsbb-and-neurores/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QSBB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12674; , ; "GCST90310293"; "A case-control study of calcific aortic valve stenosis at the Institut universitaire de cardiologie et de pneumologie de Québec – Université Laval, Canada, in which blood and aortic valve tissue are collected from patients undergoing aortic valve replacement for the disease and compared with controls (in its first phase, patients without valve disease undergoing cardiac surgery, mostly coronary artery bypass, at the same institute; in its second, CARTaGENE participants without valvular heart disease), to identify genetic susceptibility to the disease; its valve tissues, collected in 1998–2019, are also used for gene expression studies."; 1009; 1017; "Calcific Aortic Valve Stenosis in Quebec", "QUEBEC-CAVS"; ; rdfs:label "Genome-Wide Association Study on Calcific Aortic Valve Stenosis in Quebec"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12674 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12674; "calcific aortic valve stenosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5840407/fullTextXML"; rdfs:comment "The GWAS includes 1009 severe cases of tricuspid CAVS confirmed at surgery and 1017 ethnically matched controls with normal aortic valve that underwent cardiac surgery (QUEBEC-CAVS cohort)." . _:2d962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10944835/fullTextXML"; rdfs:comment "Aortic valve tissues were collected from patients undergoing cardiac surgery at the Institut universitaire de cardiologie et de pneumologie de Québec – Université Laval between 1998 and 2019 (QUEBEC-CAVS-RNA)." . _:2d972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90310293"; "Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation."; "PMID:38494474", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10944835/fullTextXML"; rdfs:comment "The QUEBEC-CAVS study was approved by the ethics committee of the Institut universitaire de cardiologie et de pneumologie de Québec-Université Laval." . _:2d982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of calcific aortic valve stenosis at the Institut universitaire de cardiologie et de pneumologie de Québec – Université Laval, Canada, in which blood and aortic valve tissue are collected from patients undergoing aortic valve replacement for the disease and compared with controls (in its first phase, patients without valve disease undergoing cardiac surgery, mostly coronary artery bypass, at the same institute; in its second, CARTaGENE participants without valvular heart disease), to identify genetic susceptibility to the disease; its valve tissues, collected in 1998–2019, are also used for gene expression studies."; "PMID:29511167", "PMID:31141105", "PMID:38494474"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2d992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1009; "first-phase (QUEBEC-CAVS-1) cases and controls passing QC; no stated total (2018)"; "PMID:29511167"; rdfs:comment "A GWAS on 1009 cases and 1017 ethnically matched controls was combined with a large-scale eQTL mapping study of human aortic valve tissues (n = 233) to identify susceptibility genes for CAVS." . _:2d9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1017; "first-phase (QUEBEC-CAVS-1) cases and controls passing QC; no stated total (2018)"; "PMID:29511167"; rdfs:comment "A GWAS on 1009 cases and 1017 ethnically matched controls was combined with a large-scale eQTL mapping study of human aortic valve tissues (n = 233) to identify susceptibility genes for CAVS." . _:2d9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QUEBEC-CAVS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12682; , ; ; "GCST90270269"; "A cohort of children and adults with sickle cell disease, randomly sampled from the active patients of six care sites in the Brazilian states of Minas Gerais (Belo Horizonte, Juiz de Fora and Montes Claros), Rio de Janeiro, Pernambuco (Recife) and São Paulo and enrolled in 2013–2015 as the Brazilian component of the NHLBI REDS-III programme, with clinical data, a blood biorepository and genome-wide genotyping, to characterise the clinical and transfusion outcomes of sickle cell disease in Brazil and support genotype–phenotype studies."; "The acronym REDS-III also denotes Recipient Epidemiology and Donor Evaluation Study-III (COHO:0000472); this term is REDS-III Brazil Sickle Cell Disease Cohort."@en; 2795; "Brazil SCD Cohort Study", "Brazil Sickle Cell Disease Cohort Study", "REDS-III", "REDS-III Brazil SCD Cohort", "REDS-III Brazil SCD cohort study", "Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study"; ; rdfs:label "REDS-III Brazil Sickle Cell Disease Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12682 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2d9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12682; "sickle cell disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8019534/unicode"; rdfs:comment "The Brazil programme is the only programme within REDS-III to establish a SCD cohort in order to characterize health outcomes (including transfusion outcomes) in patients with SCD." . _:2d9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30027669+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 2795 participants at six Brazilian sites were enrolled between 2013 and 2015." . _:2d9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270269"; "Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci."; "PMID:36602125", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10155195/unicode"; rdfs:comment "This was conducted within the Brazil Sickle Cell Disease Cohort Study as part of the Recipient Epidemiology Donor Evaluation Study III (REDS-III)." . _:2d9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of children and adults with sickle cell disease, randomly sampled from the active patients of six care sites in the Brazilian states of Minas Gerais (Belo Horizonte, Juiz de Fora and Montes Claros), Rio de Janeiro, Pernambuco (Recife) and São Paulo and enrolled in 2013–2015 as the Brazilian component of the NHLBI REDS-III programme, with clinical data, a blood biorepository and genome-wide genotyping, to characterise the clinical and transfusion outcomes of sickle cell disease in Brazil and support genotype–phenotype studies."; "PMID:30027669"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2da02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2795; "people with sickle cell disease enrolled at six Brazilian sites (2015)"; "PMID:30027669"; rdfs:comment "A total of 2795 participants at six Brazilian sites were enrolled between 2013 and 2015." . _:2da12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REDS-III"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12689; , ; ; "GCST90244057"; "The eye study of the offspring (Generation 2) of the Raine Study pregnancy cohort in Western Australia, in which participants completed a comprehensive eye assessment at the cohort's 20-year follow-up, including visual acuity, orthoptic assessment, cycloplegic autorefraction, ocular biometry and anterior and posterior segment photography, to determine the prevalence of and risk factors for eye disease in young adults and characterise their ocular biometric parameters."; 1344; "REHS", "Raine eye health study", "Western Australian Pregnancy (Raine) Cohort 20 year follow up Eye Study", "Western Australian Pregnancy Cohort (Raine) Eye Health Study", "Western Australian Pregnancy Cohort (Raine) Study: 20-year follow-up Eye Study"; ; rdfs:label "Raine Eye Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12689 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2da22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12689; "eye disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23301674+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Raine Eye Health Study (REHS) was conceived to determine the prevalence of and risk factors for eye disease in young adults, and to characterize ocular biometric parameters in a young adult cohort." . _:2da32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24168726+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Subject groups were participants in (1) the Avon Longitudinal Study of Parents and Children (ALSPAC; UK; age 15 years; N = 4401), (2) the Singapore Cohort Study of Risk Factors for Myopia (SCORM; Singapore; age 13 years; N = 1959), (3) the Raine Eye Health Study (REHS; Australia; age 20 years; N = 1344), and (4) Israeli Defense Force Pre-recruitment Candidates (IDFC; Israel; age 16-22 years; N = 888,277)." . _:2da42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "These 14 cohorts were: Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS), Rotterdam Study I (RSI), Erasmus Rucphen Family (ERF), Raine Eye Health Study (REHS) of the Raine Study, Beaver Dam Eye Study (BDES), Estonian Genome Center for the University of Tartu (EGCUT), Finnish Twin Study on Aging (FITSA), Ogliastra, Croatia-Korcula, TwinsUK, and EPIC-Norfolk." . _:2da52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244057"; "Rare variant analyses across multiethnic cohorts identify novel genes for refractive error."; "PMID:36596879", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9810640/fullTextXML"; rdfs:comment "These 14 cohorts were: Singapore Chinese Eye Study (SCES), Singapore Malay Eye Study (SiMES), Singapore Indian Eye Study (SINDI), Age Related Eye Study (AREDS), Rotterdam Study I (RSI), Erasmus Rucphen Family (ERF), Raine Eye Health Study (REHS) of the Raine Study, Beaver Dam Eye Study (BDES), Estonian Genome Center for the University of Tartu (EGCUT), Finnish Twin Study on Aging (FITSA), Ogliastra, Croatia-Korcula, TwinsUK, and EPIC-Norfolk." . _:2da62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The eye study of the offspring (Generation 2) of the Raine Study pregnancy cohort in Western Australia, in which participants completed a comprehensive eye assessment at the cohort's 20-year follow-up, including visual acuity, orthoptic assessment, cycloplegic autorefraction, ocular biometry and anterior and posterior segment photography, to determine the prevalence of and risk factors for eye disease in young adults and characterise their ocular biometric parameters."; "PMID:23301674", "PMID:36596879"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2da72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1344; "Raine Study Generation 2 participants given the eye assessment at the 20-year follow-up"; "PMID:23301674"; rdfs:comment "A total of 1344 participants (51.3% male) were assessed over a 24-month period." . _:2da82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12697; , ; ; "GCST90094651"; "A hospital-based case-control study of breast cancer conducted in the Philadelphia and Detroit metropolitan areas of the United States from 1999 to 2003, whose cases, diagnosed with invasive ductal breast cancer within 18 months of recruitment and over-sampled for diagnosis before age 40, were identified in the University of Pennsylvania Health System and the Karmanos Cancer Institute or recruited through local advertisement, with controls without breast cancer recruited in the same way."; 143; 254; "RVGBC", "RVGDBCR"; ; rdfs:label "Racial Variability in Genotypic Determinants of Breast Cancer Risk Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12697 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2da92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12697; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "Breast cancer cases were identified in the University of Pennsylvania Health System and Karmanos Cancer Institute." . _:2daa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2dab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90094651"; "Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis."; "PMID:34706928", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9011920/unicode"; rdfs:comment "The Root consortium is comprised of six epidemiologic studies of breast cancer in women of African ancestry: the Nigerian Breast Cancer Study (Ibadan, Nigeria); the Barbados National Cancer Study (Barbados); the Southern Community Cohort (southern United States); the Baltimore Breast Cancer Study (Baltimore, United States); the Racial Variability in Genotypic Determinants of Breast Cancer Risk Study (Detroit and Pennsylvania, United States); and the Chicago Cancer Prone Study (Chicago, United States)." . _:2dac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer conducted in the Philadelphia and Detroit metropolitan areas of the United States from 1999 to 2003, whose cases, diagnosed with invasive ductal breast cancer within 18 months of recruitment and over-sampled for diagnosis before age 40, were identified in the University of Pennsylvania Health System and the Karmanos Cancer Institute or recruited through local advertisement, with controls without breast cancer recruited in the same way."; "PMID:34706928", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2dad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 143; "African-ancestry cases and controls included in the ROOT consortium after QC (analysed subset); no stated total"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "After quality control, we included 143 cases and 254 controls of African ancestry from BNCS in the ROOT consortium." . _:2dae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 254; "African-ancestry cases and controls included in the ROOT consortium after QC (analysed subset); no stated total"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "After quality control, we included 143 cases and 254 controls of African ancestry from BNCS in the ROOT consortium." . _:2daf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RVGBC"; . _:2db02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RVGDBCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12706; ; "GCST90502911"; "A population-based cross-sectional study of adults with four Samoan grandparents, recruited from February to July 2010 in 33 villages across all four census regions of the independent nation of Samoa (Apia Urban Area, Northwest Upolu, the rest of Upolu and Savai'i), with anthropometry, fasting blood biomarkers, dietary, physical activity, health and socio-demographic data and genome-wide genotyping, to identify genetic variation that increases susceptibility to obesity and cardiometabolic traits in Samoans."; 3504; "Genome Wide Association Study of Adiposity in Samoans", "Genome-wide Association Study of Adiposity in Samoans", "Samoan", "Samoan Adiposity Study", "Samoan Genome-Wide Association Study"; ; rdfs:label "Genome-Wide Association Study of Adiposity in Samoans"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12706 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2db12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12706; "obesity"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000914"; rdfs:comment "The research goal of this study is to identify genetic variation that increases susceptibility to obesity and cardiometabolic phenotypes among adult Samoans using genome-wide association (GWAS) methods." . _:2db22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502911"; "Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."; "PMID:40216759", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11992084/supplementaryFiles"; rdfs:comment "NHLBI TOPMed: Samoan Adiposity Study (Samoan)" . _:2db32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cross-sectional study of adults with four Samoan grandparents, recruited from February to July 2010 in 33 villages across all four census regions of the independent nation of Samoa (Apia Urban Area, Northwest Upolu, the rest of Upolu and Savai'i), with anthropometry, fasting blood biomarkers, dietary, physical activity, health and socio-demographic data and genome-wide genotyping, to identify genetic variation that increases susceptibility to obesity and cardiometabolic traits in Samoans."; "PMID:24799123", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000914"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2db42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3504; "adult Samoans recruited in 2010"; "PMID:24799123"; rdfs:comment "A total of 3,504 participants were recruited into the study." . _:2db52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Samoan"; . a owl:NamedIndividual, ; , ; "GCST90693209"; "A hospital-based biobank of adult patients of Sanford Health, a rural health system of the Upper Midwest of the United States based in Sioux Falls, South Dakota, who since 2011 have elected to provide specimens for research, genotyped on the Illumina Global Screening Array and linked to the health system's clinical records for genetic studies such as of cardiovascular disease."; 26291; "SANFORD", "Sanford Health", "Sanford Health BioBank", "Sanford Health Biobank"; ; rdfs:label "Sanford Biobank"@en . _:2db62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7994529/fullTextXML"; rdfs:comment "Sanford Health is the largest rural non-profit health system in the United States, serving more than 2 million patients through 46 medical centers, more than 200 clinics and 2,500 providers." . _:2db72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90693209"; "Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes."; "PMID:38652672", "https://ndownloader.figshare.com/files/45157534"; rdfs:comment "Stroke Study; ROTTERDAM, Rotterdam Study; SANFORD, Sanford Health; UKBB, UK Biobank;" . _:2db82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based biobank of adult patients of Sanford Health, a rural health system of the Upper Midwest of the United States based in Sioux Falls, South Dakota, who since 2011 have elected to provide specimens for research, genotyped on the Illumina Global Screening Array and linked to the health system's clinical records for genetic studies such as of cardiovascular disease."; "PMID:33777099", "PMID:41669951", "https://ndownloader.figshare.com/files/45157534"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2db92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26291; "European-origin patients from the Sanford Biobank and the Imagenetics program together (genotyped analysis cohort)"; "PMID:41669951"; rdfs:comment "The Sanford Health population is a cohort of 26 291 European‐origin patients from the Sanford Biobank and the Imagenetics program." . _:2dba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SANFORD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12717, _:genid-371333f489424440b12a13b9d98ced822608-genid12719, _:genid-371333f489424440b12a13b9d98ced822608-genid12721, _:genid-371333f489424440b12a13b9d98ced822608-genid12723, _:genid-371333f489424440b12a13b9d98ced822608-genid12725, _:genid-371333f489424440b12a13b9d98ced822608-genid12727; , ; ; "GCST90319846"; "A cohort of children from 24 low-income areas of Salvador, Bahia, in north-eastern Brazil, first enrolled aged 0–3 years in 1997, 2001 and 2003 to evaluate the health effects of the city's sanitation programme and followed from 2005, at ages 4–11, with further surveys (questionnaires, anthropometry, stool, blood and house-dust samples, skin prick tests and, later, genome-wide genotyping), to study social, environmental, infectious, immunological and genetic risk factors for asthma and allergic diseases; it is the Brazilian study of the Social Changes, Asthma and Allergy in Latin America (SCAALA) programme."; 1445; "SCAALA", "SCAALA cohort", "SCAALA-Salvador", "Salvador-SCAALA", "Salvador-SCAALA project", "Social Changes, Asthma, and Allergy in Latin America cohort"; ; rdfs:label "Salvador-SCAALA study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12717 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12719 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12721 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12723 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12725 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12727 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2dbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12717; "house-dust mite allergen and endotoxin"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "Study designs used include surveys and case-control studies making possible the comparison of prevalence and risk factors for asthma and other allergic diseases between urban and rural environments (the Ecuador study) and a longitudinal study of the effects of early life exposures of an urban population on asthma and other allergic diseases (the Salvador study)." . _:2dbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12719; "intestinal helminth and parasitic infections"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "Study designs used include surveys and case-control studies making possible the comparison of prevalence and risk factors for asthma and other allergic diseases between urban and rural environments (the Ecuador study) and a longitudinal study of the effects of early life exposures of an urban population on asthma and other allergic diseases (the Salvador study)." . _:2dbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12721; "indoor and outdoor formaldehyde and particulate levels"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "Study designs used include surveys and case-control studies making possible the comparison of prevalence and risk factors for asthma and other allergic diseases between urban and rural environments (the Ecuador study) and a longitudinal study of the effects of early life exposures of an urban population on asthma and other allergic diseases (the Salvador study)." . _:2dbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12723; "early life exposures of an urban population"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "Study designs used include surveys and case-control studies making possible the comparison of prevalence and risk factors for asthma and other allergic diseases between urban and rural environments (the Ecuador study) and a longitudinal study of the effects of early life exposures of an urban population on asthma and other allergic diseases (the Salvador study)." . _:2dbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12725; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "Study designs used include surveys and case-control studies making possible the comparison of prevalence and risk factors for asthma and other allergic diseases between urban and rural environments (the Ecuador study) and a longitudinal study of the effects of early life exposures of an urban population on asthma and other allergic diseases (the Salvador study)." . _:2dc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12727; "allergic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "Study designs used include surveys and case-control studies making possible the comparison of prevalence and risk factors for asthma and other allergic diseases between urban and rural environments (the Ecuador study) and a longitudinal study of the effects of early life exposures of an urban population on asthma and other allergic diseases (the Salvador study)." . _:2dc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1559717/fullTextXML"; rdfs:comment "The Salvador-SCAALA project described here is a longitudinal study involving children aged 4–11 years living in the city of Salvador, Northeastern Brazil." . _:2dc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319846"; "Genome-wide association study of Helicobacter pylori serological status in Latin American children."; "PMID:37497783", "https://arca.fiocruz.br/bitstreams/11d752b4-81df-4cf2-86c3-6dac88008f5a/download"; rdfs:comment "The discovery study was based on the SCAALA (Social Changes, Asthma, and Allergy in Latin America) cohort, including 1161 of a total of 1445 children who comprised the original cohort" . _:2dc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of children from 24 low-income areas of Salvador, Bahia, in north-eastern Brazil, first enrolled aged 0–3 years in 1997, 2001 and 2003 to evaluate the health effects of the city's sanitation programme and followed from 2005, at ages 4–11, with further surveys (questionnaires, anthropometry, stool, blood and house-dust samples, skin prick tests and, later, genome-wide genotyping), to study social, environmental, infectious, immunological and genetic risk factors for asthma and allergic diseases; it is the Brazilian study of the Social Changes, Asthma and Allergy in Latin America (SCAALA) programme."; "PMID:16796729", "PMID:37497783"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2dc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1445; "children recruited in the first (2005) resurvey with questionnaires completed"; "PMID:16796729"; rdfs:comment "The total number of children recruited in the first resurvey with questionnaires completed was 1,445." . _:2dc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCAALA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12734, _:genid-371333f489424440b12a13b9d98ced822608-genid12736, _:genid-371333f489424440b12a13b9d98ced822608-genid12738; , ; "GCST90269914"; "A cohort of homosexual and bisexual men recruited in 1978–1980 at the San Francisco municipal sexually transmitted disease clinic for studies of sexually transmitted hepatitis B, whose stored serum specimens, follow-up examinations and questionnaires, and linkage to AIDS surveillance and death registries were later used to study the natural history, transmission and cofactors of HIV infection and AIDS."; 6705; "SFCCC", "San Francisco City Clinic Cohort Study", "San Francisco City Clinic cohort"; ; rdfs:label "San Francisco City Clinic Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12734 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12736 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12738 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2dc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12734; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2261554+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cohort included 6705 homosexual and bisexual men originally recruited from 1978 to 1980 for studies of sexually transmitted hepatitis B." . _:2dc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12736; "hepatitis B"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2261554+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cohort included 6705 homosexual and bisexual men originally recruited from 1978 to 1980 for studies of sexually transmitted hepatitis B." . _:2dc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12738; "AIDS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2261554+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cohort included 6705 homosexual and bisexual men originally recruited from 1978 to 1980 for studies of sexually transmitted hepatitis B." . _:2dc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24506553+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We use data from the San Francisco City Clinic Cohort Study (SFCCC), documenting the onset of HIV in San Francisco (1978-1984)." . _:2dca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90269914"; "Africa-specific human genetic variation near CHD1L associates with HIV-1 load."; "PMID:37532928", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10848312/supplementaryFiles"; rdfs:comment "The San Francisco City Clinic Cohort (SFCCC) consists of approximately 6700 homosexual men recruited between 1978 and 1980 from a clinic for sexually transmitted diseases." . _:2dcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of homosexual and bisexual men recruited in 1978–1980 at the San Francisco municipal sexually transmitted disease clinic for studies of sexually transmitted hepatitis B, whose stored serum specimens, follow-up examinations and questionnaires, and linkage to AIDS surveillance and death registries were later used to study the natural history, transmission and cofactors of HIV infection and AIDS."; "PMID:1546772", "PMID:2261554", "PMID:37532928"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2dcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6705; "homosexual and bisexual men recruited 1978-1980"; "PMID:2261554"; rdfs:comment "PATIENTS--Cohort included 6705 homosexual and bisexual men originally recruited from 1978 to 1980 for studies of sexually transmitted hepatitis B." . _:2dcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SFCCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12745, _:genid-371333f489424440b12a13b9d98ced822608-genid12747; , , , , , ; "GCST90897930"; "A multicentre, single-blind randomised clinical trial at 29 centres in the United States, Canada, France and the United Kingdom, which from December 2004 to May 2010 screened children aged 5 to 15 years with sickle cell anaemia (haemoglobin SS or Sβ0 thalassaemia) and no history of stroke by brain MRI, and randomly assigned those with silent cerebral infarcts to regular blood transfusions or standard care, to test whether transfusion therapy reduces the recurrence of cerebral infarcts."; 196; "SIT", "SITT", "Silent Cerebral Infarct Transfusion Trial", "Silent Infarct Transfusion trial"; ; rdfs:label "Silent Cerebral Infarct Multi-Center Clinical Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12745 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12747 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2dce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12745; "silent cerebral infarct"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25140956+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were between 5 and 15 years of age, with no history of stroke and with one or more silent cerebral infarcts on magnetic resonance imaging and a neurologic examination showing no abnormalities corresponding to these lesions." . _:2dcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12747; "sickle cell anemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25140956+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were between 5 and 15 years of age, with no history of stroke and with one or more silent cerebral infarcts on magnetic resonance imaging and a neurologic examination showing no abnormalities corresponding to these lesions." . _:2dd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11609527/fullTextXML"; rdfs:comment "In the multicenter, single-blind clinical trial for children with sickle cell anemia, each participant was randomly allocated to receive regular blood transfusion therapy (transfusion group) or standard care (observation group) in 29 centers in the United States, Canada, France, and the United Kingdom." . _:2dd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90897930"; "FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries."; "PMID:40025045", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11873275/fullTextXML"; rdfs:comment "The cohorts included: Cooperative Study of Sickle Cell Disease (CSSCD: n = 841), Multicenter Study of Hydroxyurea (MSH: n = 178), Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease (PUSH) study (n = 73), Comprehensive Sickle Cell Centers Collaborative Data (C-data) project (n = 127), Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Treatment (Walk-PHaSST) trial (n = 181), Duke University Outcome Modifying Genes study (n = 152), and Silent Infarct Transfusion (SIT) trial (SITT: n = 488)." . _:2dd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, single-blind randomised clinical trial at 29 centres in the United States, Canada, France and the United Kingdom, which from December 2004 to May 2010 screened children aged 5 to 15 years with sickle cell anaemia (haemoglobin SS or Sβ0 thalassaemia) and no history of stroke by brain MRI, and randomly assigned those with silent cerebral infarcts to regular blood transfusions or standard care, to test whether transfusion therapy reduces the recurrence of cerebral infarcts."; "PMID:25140956", "PMID:39293085"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2dd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 196; "children randomised to transfusion or observation (2013)"; "PMID:25140956"; rdfs:comment "A total of 196 children (mean age, 10 years) were randomly assigned to the observation or transfusion group and were followed for a median of 3 years." . _:2dd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIT"; . _:2dd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SITT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12755; , ; ; "GCST90672046"; "A multicentre family- and population-based study of adults of European descent in Switzerland, in which index participants drawn at random from population samples in the city of Lausanne (the CoLaus study), the canton of Geneva (the Bus Santé study) and the canton of Bern (the cantonal phone directory) were recruited from December 2009 to April 2013 together with their first-degree relatives and re-examined about three years later, to study genetic and environmental determinants of blood pressure, kidney function and other cardiometabolic outcomes; it is the Swiss part of the European Project on Genes in Hypertension."; 1128; "SKIPOGH", "Swiss Kidney Project On Genes in Hypertension"; ; rdfs:label "Swiss Kidney Project on Genes in Hypertension"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12755 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2dd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12755; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3963885/fullTextXML"; rdfs:comment "SKIPOGH (Swiss Kidney Project on Genes in Hypertension) is a family and population-based cross-sectional study that examines the genetic determinants of BP." . _:2dd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41695656+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Epidemiology and risk factors of urolithiasis: insights from SKIPOGH, a population-based cohort study in Switzerland." . _:2dd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90672046"; "Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases."; "PMID:41325371", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12677789/fullTextXML"; rdfs:comment "The SKIPOGH study (Swiss Kidney Project on Genes in Hypertension) is a multicenter family-based population study aiming at exploring genetic and environmental determinants of blood pressure and renal function as well as other health-related cardiometabolic outcomes [29,30]." . _:2dd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre family- and population-based study of adults of European descent in Switzerland, in which index participants drawn at random from population samples in the city of Lausanne (the CoLaus study), the canton of Geneva (the Bus Santé study) and the canton of Bern (the cantonal phone directory) were recruited from December 2009 to April 2013 together with their first-degree relatives and re-examined about three years later, to study genetic and environmental determinants of blood pressure, kidney function and other cardiometabolic outcomes; it is the Swiss part of the European Project on Genes in Hypertension."; "PMID:24663506", "PMID:41325371", "PMID:41695656"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2dda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1128; "participants recruited at baseline in Lausanne, Geneva and Bern (2012)"; "PMID:41695656"; rdfs:comment "The Swiss Kidney Project on Genes in Hypertension (SKIPOGH) is a multicenter cohort including 1128 participants recruited from the general population of Lausanne, Geneva and Bern (2009-12)." . _:2ddb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SKIPOGH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12762; "GCST90027445"; "A clinical study of children and young people aged 5–18 of Slovenian origin with a physician diagnosis of mild-to-moderate persistent asthma and hospital records at tertiary health centres in Slovenia, part of them regularly treated with inhaled corticosteroids under medical supervision, with lung function measured after six weeks of inhaled corticosteroid treatment. It is one of the asthma studies enrolled in the Pharmacogenomics in Childhood Asthma (PiCA) consortium, which studies the genetics of response to asthma treatment."; 350; "SLOVENIA", "Slovenia study"; ; rdfs:label "SLOVENIA study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12762 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ddc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12762; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8399629/fullTextXML"; rdfs:comment "Patients with mild-to-moderate persistent asthma from the SLOVENIA study were included in the GWAS of change in lung function after ICS treatment." . _:2ddd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027445"; "Identification of ROBO2 as a Potential Locus Associated with Inhaled Corticosteroid Response in Childhood Asthma."; "PMID:34442380", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34442380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study (GWAS) of the change in lung function after 6 weeks of ICS treatment was performed in 166 asthma patients from the SLOVENIA study." . _:2dde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical study of children and young people aged 5–18 of Slovenian origin with a physician diagnosis of mild-to-moderate persistent asthma and hospital records at tertiary health centres in Slovenia, part of them regularly treated with inhaled corticosteroids under medical supervision, with lung function measured after six weeks of inhaled corticosteroid treatment. It is one of the asthma studies enrolled in the Pharmacogenomics in Childhood Asthma (PiCA) consortium, which studies the genetics of response to asthma treatment."; "PMID:28639505", "PMID:34442380"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ddf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 350; "children and young people with asthma aged 5-19 in the study, as listed in the PiCA design paper (2017)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5967359/"; rdfs:comment "Slovenia Slovenia Asthma cohort Tertiary care 350 5–19 162 (46) 89.9 (14.85) 193 † † 86 Peripheral blood" . _:2de02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLOVENIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12768, _:genid-371333f489424440b12a13b9d98ced822608-genid12770; , ; "GCST90502757"; "A cohort of healthy, full-term infants from low- to middle-income neighbourhoods of Santiago, Chile, recruited through community clinics in 1991–1996 for an iron-deficiency anaemia preventive trial or a neuromaturation study, and followed up through childhood, adolescence and adulthood in studies of nutrition, development, substance use and cardiometabolic risk."; 1798; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SLS"; "SLS"; , ; rdfs:label "Santiago Longitudinal Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12768 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12770 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2de12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12768; "iron supplementation in infancy"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SLS"; rdfs:comment "The SLS began September 1992 to study the effects of nutrition on children’s health, with follow-up assessments at ages 1, 5, 10, 12, 14, 16, 19, 21, 23, and 29 years." . _:2de22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12770; "nutrition"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SLS"; rdfs:comment "The SLS began September 1992 to study the effects of nutrition on children’s health, with follow-up assessments at ages 1, 5, 10, 12, 14, 16, 19, 21, 23, and 29 years." . _:2de32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Santiago Longitudinal Study (SLS) is a cohort of participants recruited from community clinics in Santiago, Chile, at infancy between 1991 and 1996 for participation in a randomized trial of iron supplementation to prevent iron deficiency anemia, as described previously.24 Participants were followed during infancy and at ages 5, 10, 16 or 17, and 21 or 22 years and assessed for a range of outcomes.25 Standardized BMIzs were computed using the 2000 CDC Growth Reference charts.21 A total of n = 861 SLS participants were included in the GWAS of BMIz (mean age = 5.51 years)." . _:2de42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502757"; "Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects."; "PMID:39885687", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39885687+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genetic loci associated with early-childhood body mass index (BMI), we performed GWAS of BMI Z scores in eight ancestrally diverse cohorts: ZOE 2.0 cohort, the Santiago Longitudinal Study (SLS), the Vanderbilt University BioVU biobank, the Geisinger MyCode Health Initiative biobank, Study of Latino (SOL) Youth, Pelotas (Brazil) Birth Cohort, Cameron County Hispanic Cohort (CCHC), and Viva La Familia cohort." . _:2de52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of healthy, full-term infants from low- to middle-income neighbourhoods of Santiago, Chile, recruited through community clinics in 1991–1996 for an iron-deficiency anaemia preventive trial or a neuromaturation study, and followed up through childhood, adolescence and adulthood in studies of nutrition, development, substance use and cardiometabolic risk."; "PMID:24662965", "PMID:32499257", "PMID:34556688", "PMID:35501766", "PMID:39885687"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2de62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1798; "infants enrolled 1991-1996 in the iron-deficiency preventive trial and neurophysiology study"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC6696926/unicode" . _:2de72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLS"; . a owl:NamedIndividual, ; , , ; ; "GCST90132306"; "The Shanghai Women's Health Study and the Shanghai Men's Health Study taken together: two population-based prospective cohorts of middle-aged and elderly Chinese adults in urban Shanghai, China, which recruited women in 1996–2000 and men in 2002–2006 and whose data and biospecimens are often analysed jointly, for example in nested case–control and genome-wide association studies."; "SMWHS", "SWHS/SMHS", "SWMHS", "Shanghai Men and Women's Health Studies", "Shanghai Men and Women's Health Study", "Shanghai Mens and Shanghai Womens Health Studies"; , ; rdfs:label "Shanghai Women's and Men's Health Studies"@en; rdfs:seeAlso . _:2de82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9238724/fullTextXML"; rdfs:comment "The SWHS (Shanghai Women’s Health Study) and the SMHS (Shanghai Men’s Health Study) are ongoing prospective cohort studies that recruited 75 000 women and 61 500 men of Chinese ancestry, aged 35 to 75 years, from Shanghai, China." . _:2de92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132306"; "Genetic Architecture of Plasma Alpha-Aminoadipic Acid Reveals a Relationship With High-Density Lipoprotein Cholesterol."; "PMID:35621206", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35621206+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We identified genetic determinants of plasma 2-AAA through meta-analysis of genome-wide association study data in 5456 individuals of European, African, and Asian ancestry from the Framingham Heart Study, Diabetes Prevention Program, Jackson Heart Study, and Shanghai Women's and Men's Health Studies." . _:2dea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Shanghai Women's Health Study and the Shanghai Men's Health Study taken together: two population-based prospective cohorts of middle-aged and elderly Chinese adults in urban Shanghai, China, which recruited women in 1996–2000 and men in 2002–2006 and whose data and biospecimens are often analysed jointly, for example in nested case–control and genome-wide association studies."; "PMID:28135196", "PMID:35621206", "PMID:40576378"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2deb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMWHS"; . _:2dec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWHS/SMHS"; . _:2ded2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWMHS"; . _:2dee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shanghai Men and Women's Health Studies"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12784; , ; "GCST90451657"; "A national biobank of samples from patients with multiple myeloma in Sweden, based at Skåne University Hospital in Lund, whose patients' germline DNA has been genotyped for genome-wide association studies of inherited susceptibility to multiple myeloma."; 1668; "SNMB", "Swedish Myeloma Biobank"; ; rdfs:label "Swedish National Myeloma Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2def2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12784; "multiple myeloma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4932178/fullTextXML"; rdfs:comment "The Swedish/Norwegian GWAS5 was based on 1,668 and 157 MM patients from the Swedish National Myeloma Biobank (Skåne University Hospital, Lund, Sweden) and the Norwegian Biobank for Myeloma (Trondheim, Norway), respectively." . _:2df02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4455110/fullTextXML"; rdfs:comment "For the Swedish-Norwegian discovery sample set, we obtained 1,668 and 157 samples from the Swedish National Myeloma Biobank (Skåne University Hospital, Lund, Sweden) and the Norwegian Biobank for Myeloma (Trondheim, Norway), respectively." . _:2df12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90451657"; "Deciphering the genetics and mechanisms of predisposition to multiple myeloma."; "PMID:39103364", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-024-50932-7/MediaObjects/41467_2024_50932_MOESM1_ESM.pdf"; rdfs:comment "This project is made feasible by that fact that our constellation is closely involved in coordinating the Swedish Myeloma Biobank as well as clinical studies on MM and MGUS in Sweden and the Nordic region, providing access to samples from patient cohorts that are sufficiently large to allow a GWAS." . _:2df22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national biobank of samples from patients with multiple myeloma in Sweden, based at Skåne University Hospital in Lund, whose patients' germline DNA has been genotyped for genome-wide association studies of inherited susceptibility to multiple myeloma."; "PMID:26007630", "PMID:27363682", "PMID:31363079"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2df32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1668; "MM patients from the biobank genotyped in the Swedish GWAS discovery set (analysed subset)"; "PMID:26007630"; rdfs:comment "For the Swedish-Norwegian discovery sample set, we obtained 1,668 and 157 samples from the Swedish National Myeloma Biobank (Skåne University Hospital, Lund, Sweden) and the Norwegian Biobank for Myeloma (Trondheim, Norway), respectively." . _:2df42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNMB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12791; , , ; ; "PMID:22158537"; "A case–control study of Korean patients with type 2 diabetes from the Diabetes Clinic of Seoul National University Hospital, South Korea, excluding patients positive for GAD antibodies, and of nondiabetic control subjects aged 60 or over with no history of diabetes in themselves or their first-degree relatives, used as a replication study in the Asian Genetic Epidemiology Network meta-analysis of genome-wide association studies of type 2 diabetes."; 761; 632; 1393; "SNUHDS"; rdfs:label "Seoul National University Hospital Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12791 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2df52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12791; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The Seoul National University Hospital (SNUH) case-control samples were consisted of 761 T2D patients of the Diabetes Clinic of SNUH and 632 nondiabetic control subjects." . _:2df62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22158537"; "Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians."; "PMID:22158537", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3582398/"; rdfs:comment "Stage 3 included up to, 12,284 cases and 13,172 controls from five different studies comprised of the Japan Cardiometabolic Genome Epidemiology Network (CAGE), the Shanghai Diabetes Study I/II (SDS I/II), the Chinese University of Hong Kong Diabetes Study (CUHKDS), the National Taiwan University Hospital Diabetes Study (NTUHDS) and the Seoul National University Hospital Diabetes Study (SNUHDS) for de novo replication analysis." . _:2df72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of Korean patients with type 2 diabetes from the Diabetes Clinic of Seoul National University Hospital, South Korea, excluding patients positive for GAD antibodies, and of nondiabetic control subjects aged 60 or over with no history of diabetes in themselves or their first-degree relatives, used as a replication study in the Asian Genetic Epidemiology Network meta-analysis of genome-wide association studies of type 2 diabetes."; "PMID:22158537", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2df82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 761; "T2D cases and nondiabetic controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "Seoul National University Hospital (SNUH) Study The Seoul National University Hospital (SNUH) case-control samples were consisted of 761 T2D patients of the Diabetes Clinic of SNUH and 632 nondiabetic control subjects." . _:2df92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 632; "T2D cases and nondiabetic controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "Seoul National University Hospital (SNUH) Study The Seoul National University Hospital (SNUH) case-control samples were consisted of 761 T2D patients of the Diabetes Clinic of SNUH and 632 nondiabetic control subjects." . _:2dfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1393; "T2D cases and nondiabetic controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "Seoul National University Hospital (SNUH) Study The Seoul National University Hospital (SNUH) case-control samples were consisted of 761 T2D patients of the Diabetes Clinic of SNUH and 632 nondiabetic control subjects." . _:2dfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNUHDS"; . a owl:NamedIndividual, ; , ; ; "GCST90502757"; "An ancillary study of the Hispanic Community Health Study/Study of Latinos that in 2012–2014 enrolled Hispanic/Latino children aged 8–16 whose parents or legal guardians took part in HCHS/SOL, at its field centres in the Bronx, Chicago, Miami and San Diego, United States, to examine how youth's lifestyle behaviours and cardiometabolic risk factors relate to acculturation, parenting and family behaviours, and psychosocial functioning."; 1466; "SOL Youth", "SOLYouth", "Study of Latino Youth", "Study of Latino Youth Study"; ; rdfs:label "Hispanic Community Children's Health Study/Study of Latino Youth"@en . _:2dfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24120345+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This article describes the design and methodology of the Study of Latino Youth (SOL Youth) study, a multicenter study of Hispanic/Latino children living in the United States." . _:2dfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Hispanic Community Children’s Health Study/Study of Latino Youth (SOL Youth) cohort is an ancillary study of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) that recruited n = 1,466 children aged 8–16 years between 2012 and 2014 whose parents/legal guardians participated in the HCHS/SOL at one of four field centers (Chicago, Bronx, San Diego, and Miami).33 A total of n = 1,073 children were included in GWAS analyses (mean age = 12.00 years)." . _:2dfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502757"; "Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects."; "PMID:39885687", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Hispanic Community Children’s Health Study/Study of Latino Youth (SOL Youth) cohort is an ancillary study of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) that recruited n = 1,466 children aged 8–16 years between 2012 and 2014 whose parents/legal guardians participated in the HCHS/SOL at one of four field centers (Chicago, Bronx, San Diego, and Miami).33 A total of n = 1,073 children were included in GWAS analyses (mean age = 12.00 years)." . _:2dff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ancillary study of the Hispanic Community Health Study/Study of Latinos that in 2012–2014 enrolled Hispanic/Latino children aged 8–16 whose parents or legal guardians took part in HCHS/SOL, at its field centres in the Bronx, Chicago, Miami and San Diego, United States, to examine how youth's lifestyle behaviours and cardiometabolic risk factors relate to acculturation, parenting and family behaviours, and psychosocial functioning."; "PMID:24120345", "PMID:39885687", "PMID:41294090"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1466; "youth aged 8-16 enrolled 2012-2014"; "PMID:41294090"; rdfs:comment "Between 2012 and 2014, SOL Youth enrolled 1466 youth aged 8 to 16 years living in the household of a parent/caregiver who were participants in HCHS/SOL." . _:2e012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOL Youth"; . _:2e022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOLYouth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12806; , ; "GCST90559230"; "A cohort of adults with symptomatic (stage C) heart failure of different aetiologies, prospectively enrolled from the outpatient clinic of the Heart Institute of the University of São Paulo Medical School in São Paulo, Brazil. Its genotyped participants, with atrial fibrillation ascertained from electrocardiograms and medical records, have contributed to genome-wide association studies of atrial fibrillation."; "SPHFC", "Sao Paolo Heart Failure Cohort"; ; rdfs:label "Sao Paulo Heart Failure Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12806 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12806; "heart failure"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3843/MediaObjects/41588_2017_BFng3843_MOESM307_ESM.pdf"; rdfs:comment "Only patients older than 18 years and with symptomatic heart failure (stage C) were enrolled." . _:2e042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3843/MediaObjects/41588_2017_BFng3843_MOESM307_ESM.pdf"; rdfs:comment "SPHFC: Participants for the Sao Paolo Heart Failure Cohort (SPHFC) were prospectively enrolled from the outpatient clinic at the Heart Institute, the University of Sao Paulo Medical School, Sao Paulo, Brazil." . _:2e052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90559230"; "Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases."; "PMID:40050429", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-02072-3/MediaObjects/41588_2024_2072_MOESM1_ESM.pdf"; rdfs:comment "The following studies have previously been described: ARIC8 , BBJ9 , deCODE10 , DiscovEHR10 , FHS8 , HUNT10 , KAFN11 , MESA6 , MGI10 , MGH CAMP6 , PHB12 , SiGN13 , SPHFC6 , UKBB14 and WGHS8 ." . _:2e062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults with symptomatic (stage C) heart failure of different aetiologies, prospectively enrolled from the outpatient clinic of the Heart Institute of the University of São Paulo Medical School in São Paulo, Brazil. Its genotyped participants, with atrial fibrillation ascertained from electrocardiograms and medical records, have contributed to genome-wide association studies of atrial fibrillation."; "PMID:40050429", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3843/MediaObjects/41588_2017_BFng3843_MOESM307_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPHFC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12812, _:genid-371333f489424440b12a13b9d98ced822608-genid12814, _:genid-371333f489424440b12a13b9d98ced822608-genid12816; , , ; "GCST90454282"; "A preconception, longitudinal cohort of Chinese, Malay or Indian women aged 18–45 who intended to conceive and deliver in Singapore, recruited in February 2015–October 2017 through a preconception clinic at KK Women's and Children's Hospital and through public outreach, and followed with their children from before conception through pregnancy into early childhood. Its aim is to study how nutrition, lifestyle and maternal mood before and during pregnancy affect the offspring's epigenome, duration of gestation, fetal growth, and metabolic and neural phenotypes."; 1032; "S-PRESTO", "Singapore PREconception Study of long-Term maternal and child Outcomes"; ; rdfs:label "Singapore Preconception Study of Long-Term Maternal and Child Outcomes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12812 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12814 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12816 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12812; "nutrition prior to and during pregnancy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33222050+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Singapore Preconception Study of Long-Term Maternal and Child Outcomes (S-PRESTO) is a preconception, longitudinal cohort study that aims to study the effects of nutrition, lifestyle, and maternal mood prior to and during pregnancy on the epigenome of the offspring" . _:2e092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12814; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33222050+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Singapore Preconception Study of Long-Term Maternal and Child Outcomes (S-PRESTO) is a preconception, longitudinal cohort study that aims to study the effects of nutrition, lifestyle, and maternal mood prior to and during pregnancy on the epigenome of the offspring" . _:2e0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12816; "environmental factors assessed via household dust and skin samples"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33222050+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Singapore Preconception Study of Long-Term Maternal and Child Outcomes (S-PRESTO) is a preconception, longitudinal cohort study that aims to study the effects of nutrition, lifestyle, and maternal mood prior to and during pregnancy on the epigenome of the offspring" . _:2e0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33222050+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between February 2015 and October 2017, the S-PRESTO study recruited 1039 Chinese, Malay or Indian (or any combinations thereof) women aged 18-45 years and who intended to get pregnant and deliver in Singapore, resulting in 1032 unique participants and 373 children born in the cohort." . _:2e0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454282"; "Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study."; "PMID:39516835", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11549770/fullTextXML"; rdfs:comment "The Singapore Preconception Study of Long-Term Maternal and Child Outcomes (S-PRESTO) longitudinal preconception cohort, a deeply-phenotyped, multi-ethnic cohort of Asian women of reproductive age, provides a promising opportunity to address these research gaps." . _:2e0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A preconception, longitudinal cohort of Chinese, Malay or Indian women aged 18–45 who intended to conceive and deliver in Singapore, recruited in February 2015–October 2017 through a preconception clinic at KK Women's and Children's Hospital and through public outreach, and followed with their children from before conception through pregnancy into early childhood. Its aim is to study how nutrition, lifestyle and maternal mood before and during pregnancy affect the offspring's epigenome, duration of gestation, fetal growth, and metabolic and neural phenotypes."; "PMID:33222050"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1032; "unique women enrolled preconception 2015-2017"; "PMID:33222050"; rdfs:comment "Between February 2015 and October 2017, the S-PRESTO study recruited 1039 Chinese, Malay or Indian (or any combinations thereof) women aged 18-45 years and who intended to get pregnant and deliver in Singapore, resulting in 1032 unique participants and 373 children born in the cohort." . _:2e0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "S-PRESTO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12823; , ; "GCST90726424"; "A nationwide, prospective, multicentre cohort of neonates and children younger than 17 with blood culture-proven bacterial sepsis meeting criteria for systemic inflammatory response syndrome, enrolled from September 2011 to December 2015 at ten tertiary and regional paediatric hospitals in Switzerland, including all five university centres and all paediatric intensive care units, to study the incidence, clinical features and outcomes of paediatric sepsis."; 1096; "SPSS"; ; rdfs:label "Swiss Pediatric Sepsis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12823 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12823; "bacterial sepsis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42241732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using samples and clinical data from 650 children enrolled in the Swiss Pediatric Sepsis Study, a national multicentre cohort for culture-proven bacterial sepsis" . _:2e112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13266212/fullTextXML"; rdfs:comment "The Swiss Pediatric Sepsis Study was a nationwide, prospective, multicentre cohort conducted from September 1, 2011, to December 31, 2015, across 10 tertiary and regional paediatric hospitals in Switzerland, including all five university centres and all paediatric intensive care units." . _:2e122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90726424"; "Genome-wide association study of paediatric bacteraemia and sepsis."; "PMID:42241732", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42241732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using samples and clinical data from 650 children enrolled in the Swiss Pediatric Sepsis Study, a national multicentre cohort for culture-proven bacterial sepsis, we conducted within-cohort analyses and a separate case-control analysis in 510 cases and 994 controls, testing genome-wide polymorphisms for association with sepsis susceptibility and, in cases only, with disease characteristics." . _:2e132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide, prospective, multicentre cohort of neonates and children younger than 17 with blood culture-proven bacterial sepsis meeting criteria for systemic inflammatory response syndrome, enrolled from September 2011 to December 2015 at ten tertiary and regional paediatric hospitals in Switzerland, including all five university centres and all paediatric intensive care units, to study the incidence, clinical features and outcomes of paediatric sepsis."; "PMID:30169202", "PMID:42241732"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1096; "children enrolled Sept 2011-Dec 2015 (1181 sepsis episodes), 2011-2015"; "PMID:30169202"; rdfs:comment "Between Sept 1, 2011, and Dec 31, 2015, we enrolled 1096 children to our study." . _:2e152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12830; , ; "GCST90244683"; "A long-term, multicentre study funded by the US National Institute of Mental Health that enrolled outpatients aged 15 or older with any subtype of bipolar disorder at 22 academic medical centres in the United States and followed them over seven years. All participants entered a naturalistic standard care pathway, with randomized care pathways for acute and refractory depression, to answer questions about the effectiveness of treatments for bipolar disorder."; 4360; "STEP", "STEP-BD"; ; rdfs:label "Systematic Treatment Enhancement Program for Bipolar Disorder"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12830 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12830; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35773558+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were drawn from the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD), a naturalistic study of 4360 outpatients 15 years or older with BD." . _:2e172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9247121/fullTextXML"; rdfs:comment "The study was conducted across 22 academic medical centers in the United States and was approved by the institutional review board of the participating institutions." . _:2e182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244683"; "Body weight changes and bipolar disorder: a molecular pathway analysis."; "PMID:36305391", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36305391+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The STEP-BD sample is analyzed through a hypothesis-free molecular pathway analysis in order to detect the molecular pathways that distinguish individuals who experience weight change during BD treatment from those who do not." . _:2e192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A long-term, multicentre study funded by the US National Institute of Mental Health that enrolled outpatients aged 15 or older with any subtype of bipolar disorder at 22 academic medical centres in the United States and followed them over seven years. All participants entered a naturalistic standard care pathway, with randomized care pathways for acute and refractory depression, to answer questions about the effectiveness of treatments for bipolar disorder."; "PMID:25844303", "PMID:35773558"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4360; "outpatients aged 15+ with bipolar disorder enrolled"; "PMID:35773558"; rdfs:comment "Data were drawn from the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD), a naturalistic study of 4360 outpatients 15 years or older with BD." . _:2e1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STEP"; . _:2e1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STEP-BD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12838; , ; "GCST90244025"; "An open-label, multicentre, randomised phase III trial in Germany, sponsored by Ludwig-Maximilians-University Munich, that enrolled adult patients with invasive early breast cancer at high risk of recurrence from 2005 to 2007 and compared, in a 2×2 factorial design, adjuvant FEC–docetaxel chemotherapy with or without gemcitabine and two versus five years of zoledronic acid, with an affiliated translational research programme on circulating tumour cells, serum tumour markers and pharmacogenetics."; 3754; "SUCCESS", "SUCCESS A", "SUCCESS A trial", "SUCCESS-A", "SUCCESS-A study", "SUCCESS-A trial", "SUCCESSA", "Simultaneous Study of Gemcitabine-Docetaxel Combination Adjuvant Treatment, as Well as Extended Bisphosphonate and Surveillance-Trial"; ; rdfs:label "Simultaneous Study of Gemcitabine-Docetaxel Combination adjuvant treatment, as well as Extended Bisphosphonate and Surveillance-Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12838 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12838; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33097092+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The SUCCESS-A trial (NCT02181101) examined the addition of gemcitabine to a standard chemotherapy regimen in high-risk early breast cancer patients." . _:2e1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9357161/unicode"; rdfs:comment "The SUCCESS-A study was conducted in 251 study centers in all regions of Germany." . _:2e1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90244025"; "Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer."; "PMID:35653140", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9357161/unicode"; rdfs:comment "The multicenter SUCCESS-A study included a prospective subprotocol concerned with the influence of germline genetic variants on side effects and efficacy of the chemotherapy." . _:2e202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open-label, multicentre, randomised phase III trial in Germany, sponsored by Ludwig-Maximilians-University Munich, that enrolled adult patients with invasive early breast cancer at high risk of recurrence from 2005 to 2007 and compared, in a 2×2 factorial design, adjuvant FEC–docetaxel chemotherapy with or without gemcitabine and two versus five years of zoledronic acid, with an affiliated translational research programme on circulating tumour cells, serum tumour markers and pharmacogenetics."; "PMID:24832787", "PMID:33097092", "https://clinicaltrials.gov/api/v2/studies/NCT02181101"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3754; "patients randomised 2005-2007 from 251 centres"; "PMID:33097092"; rdfs:comment "From 2005–2007, 3754 patients from 251 study centers were randomly allocated to treatment groups (1898 FEC → Doc, 1856 FEC → Doc/Gem)." . _:2e222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESS"; . _:2e232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESS A"; . _:2e242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESS-A"; . _:2e252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12848; , , ; "GCST90319855"; "A prospective, biobank-linked registry at Seoul National University Hospital, South Korea, that since March 2016 has enrolled patients clinically diagnosed with renal cell carcinoma who undergo surgical treatment (ablation, or partial, radical or cytoreductive nephrectomy), collecting standardised clinical, pathological, quality-of-life and survival data and blood and tumour samples stored in the hospital's Human Biobank. It is the nephrectomy sub-cohort of the renal cell carcinoma arm (SUPER-RCC) of the Seoul National University Prospectively Enrolled Registry for Genitourinary Cancer (SUPER-GUC)."; 1120; "SUPER-RCC-Nephrectomy", "SUPER-RCC-Nx", "Seoul National University Prospectively Enrolled Registry for RCC-Nephrectomy"; ; rdfs:label "Seoul National University Prospectively Enrolled Registry for Renal Cell Carcinoma-Nephrectomy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12848 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12848; "renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10777500/fullTextXML"; rdfs:comment "We included the cases of 1,120 patients with RCC who were registered in the Seoul National University Prospectively Enrolled Registry for RCC-Nephrectomy (SUPER-RCC-Nx) and had their blood stored in the human biobank [21]." . _:2e272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90319855"; "Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors."; "PMID:38200428", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10777500/fullTextXML"; rdfs:comment "We included the cases of 1,120 patients with RCC who were registered in the Seoul National University Prospectively Enrolled Registry for RCC-Nephrectomy (SUPER-RCC-Nx) and had their blood stored in the human biobank [21]." . _:2e282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, biobank-linked registry at Seoul National University Hospital, South Korea, that since March 2016 has enrolled patients clinically diagnosed with renal cell carcinoma who undergo surgical treatment (ablation, or partial, radical or cytoreductive nephrectomy), collecting standardised clinical, pathological, quality-of-life and survival data and blood and tumour samples stored in the hospital's Human Biobank. It is the nephrectomy sub-cohort of the renal cell carcinoma arm (SUPER-RCC) of the Seoul National University Prospectively Enrolled Registry for Genitourinary Cancer (SUPER-GUC)."; "PMID:31294132", "PMID:38200428"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1120; "registered RCC patients with stored blood, included in the 2024 GWAS (analysed subset)"; "PMID:38200428"; rdfs:comment "We included the cases of 1,120 patients with RCC who were registered in the Seoul National University Prospectively Enrolled Registry for RCC-Nephrectomy (SUPER-RCC-Nx) and had their blood stored in the human biobank [21]." . _:2e2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUPER-RCC-Nx"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12854; , ; "GCST90432152"; "A prospective, hospital-based longitudinal registry, started in 2019, of consecutive individuals with abdominal aortic aneurysm seen at the vascular and endovascular surgery units of the Hospital de la Santa Creu i Sant Pau and the Hospital del Mar in Barcelona, Spain, with aortic diameter measurements by CT or ultrasound, clinical data and DNA, RNA and plasma samples collected at follow-up visits, to study aneurysm growth and its predictors and to inform surveillance intervals."; 471; "TABS", "Triple-A Barcelona Study"; ; rdfs:label "Triple A Barcelona Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12854 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12854; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40649094+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We present the Triple-A Barcelona Study (TABS), a new hospital-based longitudinal study recruiting consecutive individuals with AAAs in Barcelona." . _:2e2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "TABS: The Triple A Barcelona Study (TABS) is a hospital-based study recruiting individuals with AAA treated in the Hospital de la Santa Creu i Sant Pau in Barcelona, Spain." . _:2e2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432152"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "TABS: The Triple A Barcelona Study (TABS) is a hospital-based study recruiting individuals with AAA treated in the Hospital de la Santa Creu i Sant Pau in Barcelona, Spain." . _:2e2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, hospital-based longitudinal registry, started in 2019, of consecutive individuals with abdominal aortic aneurysm seen at the vascular and endovascular surgery units of the Hospital de la Santa Creu i Sant Pau and the Hospital del Mar in Barcelona, Spain, with aortic diameter measurements by CT or ultrasound, clinical data and DNA, RNA and plasma samples collected at follow-up visits, to study aneurysm growth and its predictors and to inform surveillance intervals."; "PMID:37845353", "PMID:40649094"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 471; "individuals with AAA included, 2019 to March 2025"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12250419/fullTextXML"; rdfs:comment "Cohort DescriptionA total of 471 individuals, 454 males and 17 females (3.6%), with AAA were included." . _:2e302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TABS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12861; , , , , , , , , , , , ; "GCST90027859"; "A consortium of research groups worldwide, established to increase sample sizes for genome-wide association meta-analysis of asthma, that pooled asthma genome-wide association studies of European, African, Japanese and Latino ancestry, among them studies of the GABRIEL, EVE, EAGLE, APCAT, CARe and Australian Asthma Genetics consortia, into a multi-ancestry meta-analysis, with a separate analysis of childhood-onset asthma, to identify asthma risk loci."; 23948; 118538; "TAGC"; ; rdfs:label "Trans-National Asthma Genetic Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12861 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12861; "asthma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5901974/unicode"; rdfs:comment "To generate larger sample sizes for GWAS meta-analysis of asthma enabling the discovery of common novel risk loci, we established the Trans-National Asthma Genetic Consortium (TAGC) across worldwide groups of investigators with genome-wide data available in >142,000 individuals of diverse ancestries." . _:2e322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "Genomic Research on Asthma in the African Diaspora GRAAD" . _:2e332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "Australian Asthma Genetics Consortium (AAGC) Australian Asthma Genetics Consortium AAGC European Australia Population-based and case-control studies" . _:2e342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "Children'Health Study (CHS) Hispanic White CHS-LAT" . _:2e352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "Dutch Asthma Genetics Consortium (DAGC) Dutch Asthma GWAS 1 Family-Based DAG1 Dutch Asthma GWAS 2 Case-Control DAG2" . _:2e362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The GABRIEL Consortium includes 19 studies that contributed to TAGC. Seven of the 19 studies were split into two datasets according to age of onset of asthma (before or after 16 years of age); the INDUSTRIAL subgroup included four studies and the German MAS and MAGICS studies were combined." . _:2e372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "GABRIEL Kursk State Medical University study (childhood-onset asthma) KSMU-ch European Russia Case-control study" . _:2e382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "GABRIEL German Multicentre Asthma Genetics in Childhood Study (MAGICS) and Multicentre Allergy Study (MAS) MAGICS-MAS European Germany Case-control study" . _:2e392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "GABRIEL Medical Research Council Asthma UK Center in Allergic Mechanisms of Asthma (MRCA-UK) MRCA-UK European UK Family study" . _:2e3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "ALLERGEN Study of Asthma Genes and the Environment (childhood onset) SAGE-ch European Canada Population-based birth cohort" . _:2e3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "GABRIEL Severe asthma study SEVERE European United Kingdom Case-control study" . _:2e3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "GABRIEL TOMSK study (childhood-onset asthma) TOMSK-ch European Russia Family study" . _:2e3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "GABRIEL UFA region study (childhood-onset asthma) UFA-ch European Russia Case-control study" . _:2e3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90027859"; "A polygenic risk score for asthma in a large racially diverse population."; "PMID:34459047", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8551047/unicode"; rdfs:comment "We computed a PRS for asthma for subjects across all racial/ethnic groups, using genome wide significant polymorphisms identified from the Trans-National Asthma Genetic Consortium (TAGC) from Demenais et al." . _:2e3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of research groups worldwide, established to increase sample sizes for genome-wide association meta-analysis of asthma, that pooled asthma genome-wide association studies of European, African, Japanese and Latino ancestry, among them studies of the GABRIEL, EVE, EAGLE, APCAT, CARe and Australian Asthma Genetics consortia, into a multi-ancestry meta-analysis, with a separate analysis of childhood-onset asthma, to identify asthma risk loci."; "PMID:29273806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23948; "asthma cases and controls in the 2018 multi-ancestry meta-analysis"; "PMID:29273806"; rdfs:comment "These studies included 56 studies of European-ancestry (19,954 cases, 107,715 controls), seven studies of African-ancestry (2,149 cases, 6,055 controls), two Japanese studies (1,239 cases, 3,976 controls) and one Latino study (606 cases, 792 controls), making a total of 23,948 cases and 118,538 controls." . _:2e412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 118538; "asthma cases and controls in the 2018 multi-ancestry meta-analysis"; "PMID:29273806"; rdfs:comment "These studies included 56 studies of European-ancestry (19,954 cases, 107,715 controls), seven studies of African-ancestry (2,149 cases, 6,055 controls), two Japanese studies (1,239 cases, 3,976 controls) and one Latino study (606 cases, 792 controls), making a total of 23,948 cases and 118,538 controls." . _:2e422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TAGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12880; , , , , , , , , , , ; "GCST90011885", "PGS002732"; "The part of the European NAFLD Registry, a prospective observational cohort of adults with non-alcoholic fatty liver disease sponsored by Newcastle University, made up of patients with biopsy-characterised NAFLD who were recruited at liver centres across Europe from 2010 to December 2017 in the FLIP, EPoS and HEPAmet studies of NAFLD pathogenesis, or came from earlier single-centre cohorts, and used by the IMI2 LITMUS project to evaluate non-invasive biomarkers. Patients recruited since 2018 form the Registry's separate LITMUS Study Cohort."; "EPOS", "EPoS Consortium", "LITMUS metacohort", "The \"European NAFLD Registry\" Metacohort", "The European NAFLD Registry-Metacohort"; , ; rdfs:label "LITMUS Metacohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12880 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12880; "non-alcoholic fatty liver disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36958367+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This was a comparative diagnostic accuracy study in people with biopsy-confirmed NAFLD from 13 countries across Europe, recruited between Jan 6, 2010, and Dec 29, 2017, from the LITMUS metacohort of the prospective European NAFLD Registry." . _:2e442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10903803/fullTextXML"; rdfs:comment "The Metacohort enrolled subjects from sites in Belgium, Finland, France, Germany, Italy, the Netherlands, Spain, Sweden, Switzerland, and the UK between Jan 6, 2010, and Dec 29, 2017." . _:2e452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90011885"; "Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆."; "PMID:32298765" . _:2e462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002732"; "A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation."; "PMID:35654975" . _:2e472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The part of the European NAFLD Registry, a prospective observational cohort of adults with non-alcoholic fatty liver disease sponsored by Newcastle University, made up of patients with biopsy-characterised NAFLD who were recruited at liver centres across Europe from 2010 to December 2017 in the FLIP, EPoS and HEPAmet studies of NAFLD pathogenesis, or came from earlier single-centre cohorts, and used by the IMI2 LITMUS project to evaluate non-invasive biomarkers. Patients recruited since 2018 form the Registry's separate LITMUS Study Cohort."; "PMID:33045403", "PMID:36958367", "PMID:38421999", "https://clinicaltrials.gov/api/v2/studies/NCT04442334"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPOS"; . _:2e492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The \"European NAFLD Registry\" Metacohort"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12888, _:genid-371333f489424440b12a13b9d98ced822608-genid12890; , , ; "GCST90728620"; "A brain bank at the Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology in Tokyo, Japan, which registers, with the consent of relatives, the brains and other tissues of consecutive autopsies of patients of the hospital, which provides community-based general and emergency care to older people, together with their clinical data, for clinicopathological and genetic research on ageing-related neurodegenerative, movement and cognitive disorders."; 6500; "BBAR", "Brain Bank for Aging Research, Tokyo Metropolitan Institute for Geriatrics and Gerontology", "TMIG_BBAR"; ; rdfs:label "Brain Bank for Aging Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12888 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12890 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12888; "aging-related cognitive disturbances"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16248404+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have established a brain bank for the prevention and treatment of aging-related movement and cognitive disturbances, as a joint project between a rural care hospital and a research institute." . _:2e4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12890; "aging-related movement disturbances"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16248404+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have established a brain bank for the prevention and treatment of aging-related movement and cognitive disturbances, as a joint project between a rural care hospital and a research institute." . _:2e4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13109055/fullTextXML"; rdfs:comment "All 16,634 genomic DNA samples and the corresponding clinical data were recruited from the National Center for Geriatrics and Gerontology (NCGG) Biobank and Brain Bank for Aging Research, Tokyo Metropolitan Institute for Geriatrics and Gerontology (TMIG), Japan." . _:2e4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90728620"; "Genome and transcriptome-wide association studies identify multiple novel loci for dementia with grain in Japanese."; "PMID:41402580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13109055/fullTextXML"; rdfs:comment "All 16,634 genomic DNA samples and the corresponding clinical data were recruited from the National Center for Geriatrics and Gerontology (NCGG) Biobank and Brain Bank for Aging Research, Tokyo Metropolitan Institute for Geriatrics and Gerontology (TMIG), Japan." . _:2e4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A brain bank at the Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology in Tokyo, Japan, which registers, with the consent of relatives, the brains and other tissues of consecutive autopsies of patients of the hospital, which provides community-based general and emergency care to older people, together with their clinical data, for clinicopathological and genetic research on ageing-related neurodegenerative, movement and cognitive disorders."; "PMID:16248404", "PMID:26091809", "PMID:33150517"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6500; "more than 6,500 cases with brain paraffin blocks accumulated, as of 2005 (a lower bound)"; "https://www.jstage.jst.go.jp/article/geriatrics1964/42/5/42_5_483/_article/-char/ja/"; rdfs:comment "現在までの蓄積は, 脳パラフィンブロック6,500例以上, 凍結脳 (部分) 1,500例以上, 凍結半脳450例以上で, 30件以上の共同研究を実行中である." . _:2e502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBAR"; . _:2e512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMIG_BBAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12898; , ; "GCST90860840"; "A biobank of the Menzies Institute for Medical Research at the University of Tasmania, run with the Royal Hobart Hospital and associated public and private eye clinics in Tasmania, Australia, that collects DNA samples and clinical information from Tasmanian residents diagnosed with a range of eye diseases, and from adults without eye disease recruited from the community as controls, to investigate eye disease."; "TOB"; ; rdfs:label "Tasmanian Ophthalmic Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12898 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12898; "eye disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13341751/fullTextXML"; rdfs:comment "The Tasmanian Ophthalmic Biobank (TOB) is an initiative between the Royal Hobart Hospital and the University of Tasmania, set up to investigate eye disease." . _:2e532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13341751/fullTextXML"; rdfs:comment "The Tasmanian Ophthalmic Biobank (TOB) is an initiative between the Royal Hobart Hospital and the University of Tasmania, set up to investigate eye disease." . _:2e542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90860840"; "Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy."; "PMID:40136285", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11951052/fullTextXML"; rdfs:comment "The GWAS of Australian cohort9 consisted of Caucasian participants from the Tasmanian Ophthalmic Biobank (TOB; Ethics approval number H0012902) and the Genetic Risk Factors in Complications of Diabetes study (GRFCD; Ethics approval number 86-067)." . _:2e552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of the Menzies Institute for Medical Research at the University of Tasmania, run with the Royal Hobart Hospital and associated public and private eye clinics in Tasmania, Australia, that collects DNA samples and clinical information from Tasmanian residents diagnosed with a range of eye diseases, and from adults without eye disease recruited from the community as controls, to investigate eye disease."; "PMID:34013049", "PMID:42026177"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12904; , ; "GCST90707263"; "A prospective cohort at Brigham and Women's Hospital in Boston, United States, begun in 2009, of adults undergoing aortic valve surgery with or without coronary artery bypass grafting, from whom left ventricular myocardium is biopsied at the apical vent site at the start and end of the ischaemic period of cardiopulmonary bypass, together with blood and DNA, to study how genetic variation shapes cardiac gene expression and its response to ischaemia."; 140; "TRANSCRIBE", "TRANSCRIBE Program", "TRANSCRibE", "TRanscriptomic ANalySis of left ventriCulaR gene Expression", "Whole Genome Expression of Left Ventricular Myocardium During Cardiac Surgery"; ; rdfs:label "Transcriptomic Analysis of Left Ventricular Gene Expression"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12904 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12904; "aortic stenosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5139013/fullTextXML"; rdfs:comment "LV samples were obtained during placement of the LV vent in 76 Caucasian patients undergoing aortic valve replacement for aortic stenosis with or without concomitant coronary artery bypass grafting." . _:2e582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00985049?format=csv"; rdfs:comment "Brigham and Women's Hospital, Boston, Massachusetts, 02115, United States" . _:2e592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90707263"; "Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve."; "PMID:41645906" . _:2e5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort at Brigham and Women's Hospital in Boston, United States, begun in 2009, of adults undergoing aortic valve surgery with or without coronary artery bypass grafting, from whom left ventricular myocardium is biopsied at the apical vent site at the start and end of the ischaemic period of cardiopulmonary bypass, together with blood and DNA, to study how genetic variation shapes cardiac gene expression and its response to ischaemia."; "PMID:27923400", "PMID:28687077", "https://clinicaltrials.gov/api/v2/studies/NCT00985049"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 140; "aortic valve surgery patients enrolled (as reported in 2017)"; "PMID:28687077"; rdfs:comment "A large cohort of patients (n = 140) undergoing elective cardiac surgery for aortic valve replacement were enrolled in this study." . _:2e5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRANSCRIBE"; . _:2e5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TRANSCRibE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12912; , ; "GCST90709787"; "A prospective longitudinal cohort of patients with Parkinson's disease, collected since 1997 from sequential new referrals to the Department of Neurology at St. Olav's Hospital in Trondheim, Norway (some followed since 1980), most living within about 50 miles of Trondheim, established mainly for genetic studies of Parkinson's disease and followed for disease course, cognition and survival."; 1221; "Trondheim", "Trondheim PD Cohort", "Trondheim PD cohort", "Trondheim Parkinson's disease study", "Trondheim_PD"; ; rdfs:label "Trondheim Parkinson's Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12912; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "The Trondheim PD cohort is a prospective longitudinal study of PD patients at the Department of Neurology at St. Olav’s Hospital in Trondheim, Norway59." . _:2e5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "The Trondheim PD cohort is a prospective longitudinal study of PD patients at the Department of Neurology at St. Olav’s Hospital in Trondheim, Norway59." . _:2e602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90709787"; "Genome-wide determinants of mortality and motor progression in Parkinson's disease."; "PMID:38849413", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11161485/fullTextXML"; rdfs:comment "The Trondheim PD cohort is a prospective longitudinal study of PD patients at the Department of Neurology at St. Olav’s Hospital in Trondheim, Norway59." . _:2e612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective longitudinal cohort of patients with Parkinson's disease, collected since 1997 from sequential new referrals to the Department of Neurology at St. Olav's Hospital in Trondheim, Norway (some followed since 1980), most living within about 50 miles of Trondheim, established mainly for genetic studies of Parkinson's disease and followed for disease course, cognition and survival."; "PMID:34315208", "PMID:38849413"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1221; "participants in the cohort by end of January 2020"; "PMID:34315208"; rdfs:comment "By the end of January 2020, the Trondheim PD cohort contained 1,221 participants (65% males)." . _:2e632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Trondheim"; . _:2e642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Trondheim_PD"; . a owl:NamedIndividual, ; , , ; ; "GCST90002243"; "A population-based sample of Han Chinese individuals in Taiwan, selected at random from the healthy controls of the Taiwan Han Chinese Cell and Genome Bank, who had been recruited by stratified three-stage probability cluster sampling through the registry of the non-aboriginal townships and city districts of Taiwan. It was genotyped genome-wide with support from the Academia Sinica Genomic Medicine Multicenter Study."; 920; "TWSC"; ; rdfs:label "Taiwan Super Control Study"@en . _:2e652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3405/MediaObjects/41588_2015_BFng3405_MOESM35_ESM.pdf"; rdfs:comment "Control participants of the Taiwan Super Control Study (Taiwan) who took part in the current analysis included 1,000 randomly selected individuals whose genetic data were extracted from the Han‐Chinese Cell and Genome Bank in Taiwan." . _:2e662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002243"; "The trans-ancestral genomic architecture of glycemic traits."; "PMID:34059833", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00852-9/MediaObjects/41588_2021_852_MOESM1_ESM.pdf"; rdfs:comment "TWSC This work was supported by Academia Sinica GMM project." . _:2e672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based sample of Han Chinese individuals in Taiwan, selected at random from the healthy controls of the Taiwan Han Chinese Cell and Genome Bank, who had been recruited by stratified three-stage probability cluster sampling through the registry of the non-aboriginal townships and city districts of Taiwan. It was genotyped genome-wide with support from the Academia Sinica Genomic Medicine Multicenter Study."; "PMID:24647736", "PMID:32453789"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 920; "non-diabetic participants analysed for HbA1c (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7274451/fullTextXML"; rdfs:comment "We tested the association of the SLC2A10 polymorphism with HbA1c in the Taiwan Super Control Study (TWSC) [35]. Subjects with diabetes were excluded, as defined by physician diagnosis, medication use, or HbA1c ≥ 6.5%. A total of 920 participants were included." . _:2e692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TWSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12925, _:genid-371333f489424440b12a13b9d98ced822608-genid12927, _:genid-371333f489424440b12a13b9d98ced822608-genid12929, _:genid-371333f489424440b12a13b9d98ced822608-genid12931; , , ; "GCST90671959"; "A population-based prospective cohort of adults from urban and rural areas of Taizhou, Jiangsu Province, China, initiated in 2007 by Fudan University and the Taizhou government, with baseline interviews, physical examinations, biochemical assays and collection of blood and other biospecimens, and follow-up through health records and repeated assessments, to study environmental and genetic risk factors for common non-communicable diseases."; 201000; "TZL", "TZLS", "The Taizhou Longitudinal Study"; ; rdfs:label "Taizhou Longitudinal Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12925 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12927 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12929 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12931 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12925; "occupational"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2715397/fullTextXML"; rdfs:comment "The TZL study is focused on exploring the multiple environmental and lifestyles exposures altered during the process of economic transformation of China, solely or in combination with multiple genetic factors, on the gradually increased prevalence of non-communicable chronic diseases." . _:2e6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12927; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2715397/fullTextXML"; rdfs:comment "The TZL study is focused on exploring the multiple environmental and lifestyles exposures altered during the process of economic transformation of China, solely or in combination with multiple genetic factors, on the gradually increased prevalence of non-communicable chronic diseases." . _:2e6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12929; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2715397/fullTextXML"; rdfs:comment "The TZL study is focused on exploring the multiple environmental and lifestyles exposures altered during the process of economic transformation of China, solely or in combination with multiple genetic factors, on the gradually increased prevalence of non-communicable chronic diseases." . _:2e6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12931; "environmental and lifestyle exposures altered during economic transformation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2715397/fullTextXML"; rdfs:comment "The TZL study is focused on exploring the multiple environmental and lifestyles exposures altered during the process of economic transformation of China, solely or in combination with multiple genetic factors, on the gradually increased prevalence of non-communicable chronic diseases." . _:2e6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41663009+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Taizhou Longitudinal Study (TZL) is a population-based prospective cohort initiated in 2007, recruiting over 201,000 adults aged 20-80 from urban and rural areas of Taizhou, Jiangsu Province, China." . _:2e6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90671959"; "GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction."; "PMID:37565938", "https://www.elsevier.com/about/press-releases/having-a-bad-hair-day-blame-your-genes"; rdfs:comment "The first genome-wide association study (GWAS) on human scalp hair whorls was performed among 2,149 Chinese individuals from the National Survey of Physical Traits cohort, followed by a replication study in 1,950 Chinese individuals from the Taizhou Longitudinal Study cohort." . _:2e702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of adults from urban and rural areas of Taizhou, Jiangsu Province, China, initiated in 2007 by Fudan University and the Taizhou government, with baseline interviews, physical examinations, biochemical assays and collection of blood and other biospecimens, and follow-up through health records and repeated assessments, to study environmental and genetic risk factors for common non-communicable diseases."; "PMID:19589173", "PMID:41663009"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 201000; "adults aged 20-80 recruited since 2007 (stated as over 201,000), 2026"; "PMID:41663009"; rdfs:comment "The Taizhou Longitudinal Study (TZL) is a population-based prospective cohort initiated in 2007, recruiting over 201,000 adults aged 20-80 from urban and rural areas of Taizhou, Jiangsu Province, China." . _:2e722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TZL"; . _:2e732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TZLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12939; , ; "GCST90432152"; "A UK national prospective cohort of men recruited in 2011–2019 through the NHS abdominal aortic aneurysm screening programmes of England, Wales and Scotland, which invite men in the year of their 65th birthday: men with a small aneurysm detected at screening, together with screened men without an aneurysm as controls, followed with annual postal questionnaires and, for those with an aneurysm, ultrasound surveillance scans, to study the growth of small abdominal aortic aneurysms."; 3670; "UKAGS", "United Kingdom Aneurysm Growth Study"; ; rdfs:label "UK Aneurysm Growth Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12939 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12939; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29405273+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were identified through the United Kingdom Aneurysm Growth Study (UKAGS), a nationwide prospective cohort study of men with an AAA of less than 55 mm diagnosed through voluntary participation in screening." . _:2e752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "The UK Aneurysm Growth Study (UKAGS) is a prospective study of men attending the NHS aneurysm screening programmes in the UK at reaching age 65." . _:2e762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90432152"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "The UK Aneurysm Growth Study (UKAGS) is a prospective study of men attending the NHS aneurysm screening programmes in the UK at reaching age 65." . _:2e772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK national prospective cohort of men recruited in 2011–2019 through the NHS abdominal aortic aneurysm screening programmes of England, Wales and Scotland, which invite men in the year of their 65th birthday: men with a small aneurysm detected at screening, together with screened men without an aneurysm as controls, followed with annual postal questionnaires and, for those with an aneurysm, ultrasound surveillance scans, to study the growth of small abdominal aortic aneurysms."; "PMID:29405273", "PMID:38055889"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3670; "men with AAA included in the 2023 growth analysis (analysed subset; controls not counted), 2011-2019"; "PMID:38055889"; rdfs:comment "Some 3670 participants were included in the analyses, each with one or more completed questionnaire responses and two or more post-recruitment scans, with at least one scan >= 30 mm in diameter (Table 1)." . _:2e792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKAGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12946; , ; ; "GCST90132184"; "A type 2 diabetes case-control sample of Danish participants, undertaken by the Novo Nordisk Foundation Center for Basic Metabolic Research at the University of Copenhagen, that brings together people from several Danish studies, among them the Vejle Diabetes Biobank, Inter99, Health2006, Health2008 and DanFunD: cases with type 2 diabetes by self-report, anti-diabetic treatment or fasting or 2-hour plasma glucose, and controls with normal fasting and, where measured, 2-hour plasma glucose, genotyped genome-wide for genetic studies of type 2 diabetes."; "DANISH-UCPH", "Danish T2D case-control study", "UCPH", "UPCH"; ; rdfs:label "Danish T2D Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12946 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12946; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "Danish T2D Case-Control Study (UCPH) was undertaken by the Novo Nordisk Foundation Center for Basic Metabolic Research" . _:2e7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "The studies included in the Danish T2D Case- Control Study (UCPH) were conducted in accordance with the Declaration of Helsinki II and were approved by the local Ethical Committees of Copenhagen County, the Capital Region of Denmark, or the Region of Southern Denmark." . _:2e7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90132184"; "Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation."; "PMID:35551307", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf"; rdfs:comment "Danish T2D Case-Control Study (UCPH) was undertaken by the Novo Nordisk Foundation Center for Basic Metabolic Research, which is an independent Research Center, based at the University of Copenhagen, Denmark and partially funded by an unconditional donation from the Novo Nordisk Foundation (www.cbmr.ku.dk, Grant number NNF18CC0034900)." . _:2e7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control sample of Danish participants, undertaken by the Novo Nordisk Foundation Center for Basic Metabolic Research at the University of Copenhagen, that brings together people from several Danish studies, among them the Vejle Diabetes Biobank, Inter99, Health2006, Health2008 and DanFunD: cases with type 2 diabetes by self-report, anti-diabetic treatment or fasting or 2-hour plasma glucose, and controls with normal fasting and, where measured, 2-hour plasma glucose, genotyped genome-wide for genetic studies of type 2 diabetes."; "PMID:30297969", "PMID:35551307"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DANISH-UCPH"; . _:2e7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCPH"; . _:2e802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UPCH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12954; , ; "GCST90270131"; "A registry of children and adults aged 6 months to 65 years with biopsy-confirmed eosinophilic esophagitis, enrolled at a single visit in 2011–2016 at the five US sites of the NIAID-funded Consortium of Food Allergy Research (in New York, North Carolina, Denver, Little Rock and Baltimore), with medical history questionnaires and blood or saliva samples genotyped at Cincinnati Children's Hospital Medical Center, to characterise the disease and establish its genetic basis."; 708; "CoFAR 5", "CoFAR5", "Eosinophilic Esophagitis (EoE) Databank (CoFAR 5)", "Eosinophilic Esophagitis Databank", "NIH CoFAR EoE cohort", "NIH Consortium of Food Allergy Research (CoFAR) EoE Cohort", "US NIH CoFAR EoE cohort", "USNIHFAREE"; ; rdfs:label "CoFAR Eosinophilic Esophagitis Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12954 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12954; "eosinophilic esophagitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30075341+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This was a multisite single visit registry enrolling subjects aged 6 months to 65 years with EoE." . _:2e822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30075341+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To describe the clinical, endoscopic, and histopathologic features of a large number of children and adults with EoE across the United States." . _:2e832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270131"; "Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans."; "PMID:36400179", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10164699/"; rdfs:comment "The external cohorts were composed of cases from the National Institutes of Health Consortium of Food Allergy Researchers (CoFAR)13, and the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)37." . _:2e842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of children and adults aged 6 months to 65 years with biopsy-confirmed eosinophilic esophagitis, enrolled at a single visit in 2011–2016 at the five US sites of the NIAID-funded Consortium of Food Allergy Research (in New York, North Carolina, Denver, Little Rock and Baltimore), with medical history questionnaires and blood or saliva samples genotyped at Cincinnati Children's Hospital Medical Center, to characterise the disease and establish its genetic basis."; "PMID:30075341", "https://clinicaltrials.gov/api/v2/studies/NCT01323803"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 708; "subjects enrolled May 2011 to March 2016"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6132253/"; rdfs:comment "708 subjects were enrolled between May 2011 and March 2016, and 705 subjects were analyzed, as 3 were determined to be ineligible." . _:2e862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoFAR 5"; . _:2e872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoFAR5"; . _:2e882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USNIHFAREE"; . a owl:NamedIndividual, ; , ; "GCST90809464"; "An online study of adults aged 18 or over who speak English fluently, conducted by researchers at Vanderbilt University Medical Center in Nashville, Tennessee, and recruited worldwide, mainly through ResearchMatch and also through Vanderbilt newsletters and research mailing lists, Reddit, Facebook advertising and social media sharing. Participants completed web-based questionnaires on music engagement and auditory tasks of musical rhythm and speech perception, and those with a US mailing address were invited to return mail-in saliva samples for genotyping, to study the genetics of musicality."; 3258; "Vanderbilt_OM"; ; rdfs:label "Vanderbilt Online Musicality Study"@en . _:2e892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10038917/"; rdfs:comment "Saliva collection kits were sent to 2,286 of these participants meeting the following criteria: they had completed the entire survey, reported that their data was usable, and had a valid US mailing address." . _:2e8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90809464"; "Genome-wide investigation of prosody perception: Shared genetic influences between speech rhythm, musical rhythm, and reading traits."; "PMID:41715922", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13091348/fullTextXML"; rdfs:comment "The study population was a subset of those who participated in the Vanderbilt Online Musicality Study,47 where participants completed various internet-based tasks, including TOPsy, and submitted genetic samples." . _:2e8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An online study of adults aged 18 or over who speak English fluently, conducted by researchers at Vanderbilt University Medical Center in Nashville, Tennessee, and recruited worldwide, mainly through ResearchMatch and also through Vanderbilt newsletters and research mailing lists, Reddit, Facebook advertising and social media sharing. Participants completed web-based questionnaires on music engagement and auditory tasks of musical rhythm and speech perception, and those with a US mailing address were invited to return mail-in saliva samples for genotyping, to study the genetics of musicality."; "PMID:36718543", "PMID:41715922"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3258; "participants who consented, completed at least part of the online study and passed QC"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10038917/"; rdfs:comment "In total, 3,258 participants (1,948 females, 727 males, 583 unknown) consented to the study, completed at least a portion of the online study, and passed quality control filters (see Figure 2)." . _:2e8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vanderbilt_OM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12968; , ; "GCST90502757"; "A family study of Hispanic children in Houston, Texas, conducted at the USDA/ARS Children's Nutrition Research Center of Baylor College of Medicine, which in 2000–2005 recruited families through a proband aged 4–19 with a BMI above the 95th percentile, together with the proband's siblings aged 4–19 and their parents. The children were phenotyped in depth (anthropometry, body composition by dual-energy X-ray absorptiometry, diet, physical activity, energy expenditure and metabolic risk factors) and followed up after one year, to map genetic and environmental contributions to childhood obesity and its comorbidities."; 1030; "VFA", "VIVA LA FAMILIA Study", "Viva La Familia", "Viva La Familia Study"; ; rdfs:label "Viva la Familia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12968 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12968; "childhood obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16960181+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Viva la Familia cohort consisted of 1030 children from 319 families selected based on an overweight proband between the ages of 4 and 19 y." . _:2e8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Viva La Familia study recruited n = 1,030 children from 319 families between November 2000 and August 2004 from a Hispanic population in Houston, Texas, to assess genetic and environmental factors affecting obesity and its related comorbidities.31 A total of n = 656 participants were included in GWAS analyses (mean age = 10.7 for girls and mean age = 11.2 for boys)." . _:2e902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90502757"; "Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects."; "PMID:39885687", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11875162/fullTextXML"; rdfs:comment "The Viva La Familia study recruited n = 1,030 children from 319 families between November 2000 and August 2004 from a Hispanic population in Houston, Texas, to assess genetic and environmental factors affecting obesity and its related comorbidities.31 A total of n = 656 participants were included in GWAS analyses (mean age = 10.7 for girls and mean age = 11.2 for boys)." . _:2e912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Hispanic children in Houston, Texas, conducted at the USDA/ARS Children's Nutrition Research Center of Baylor College of Medicine, which in 2000–2005 recruited families through a proband aged 4–19 with a BMI above the 95th percentile, together with the proband's siblings aged 4–19 and their parents. The children were phenotyped in depth (anthropometry, body composition by dual-energy X-ray absorptiometry, diet, physical activity, energy expenditure and metabolic risk factors) and followed up after one year, to map genetic and environmental contributions to childhood obesity and its comorbidities."; "PMID:16960181", "PMID:23251661"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1030; "children (probands and siblings) in 319 families"; "PMID:16960181"; rdfs:comment "The Viva la Familia cohort consisted of 1030 children from 319 families selected based on an overweight proband between the ages of 4 and 19 y." . _:2e932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VFA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12975; , ; "GCST010304"; "A population-based collection of adult melanoma cases resident in Western Australia and diagnosed between January 2006 and September 2009, identified through the Western Australian Cancer Registry and invited by mail with their diagnosing doctor's consent, with registry pathology data, a telephone questionnaire on melanoma risk factors such as sun exposure and skin type, and blood samples for DNA, RNA and serum, established to investigate the genetic epidemiology of melanoma."; 1643; "WAMHS"; ; rdfs:label "Western Australian Melanoma Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12975 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12975; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21474410+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Western Australian Melanoma Health Study (WAMHS) is a population-based case-collection and biospecimen resource established to investigate the genetic epidemiology of melanoma." . _:2e952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-020-0611-8/MediaObjects/41588_2020_611_MOESM1_ESM.pdf"; rdfs:comment "The WAMHS population based study was collected from Perth, Australia based on histopathology confirmed invasive, cutaneous melanoma cases in the Western Australian Cancer Registry." . _:2e962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST010304"; "Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility."; "PMID:32341527", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-020-0611-8/MediaObjects/41588_2020_611_MOESM1_ESM.pdf"; rdfs:comment "The WAMHS population based study was collected from Perth, Australia based on histopathology confirmed invasive, cutaneous melanoma cases in the Western Australian Cancer Registry." . _:2e972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based collection of adult melanoma cases resident in Western Australia and diagnosed between January 2006 and September 2009, identified through the Western Australian Cancer Registry and invited by mail with their diagnosing doctor's consent, with registry pathology data, a telephone questionnaire on melanoma risk factors such as sun exposure and skin type, and blood samples for DNA, RNA and serum, established to investigate the genetic epidemiology of melanoma."; "PMID:21474410", "PMID:26237428"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1643; "consenting melanoma cases"; "PMID:21474410"; rdfs:comment "The final sample consisted of 1643 consenting cases out of 3420 cancer notifications (48.04%), of which 1455 cases completed one or more components of the study and 1157 completed all components." . _:2e992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAMHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12982; , , , , ; "GCST90454283"; "An observational study of adults taking warfarin at a stable maintenance dose for venous thromboembolism, atrial fibrillation or valvular heart disease, Black African and, in South Africa, also of mixed ancestry, recruited from June 2018 to March 2020 at outpatient clinics and hospital departments in Uganda and South Africa by the NIHR Global Health Research Group on warfarin anticoagulation in sub-Saharan Africa (the University of Liverpool, the Infectious Diseases Institute in Kampala and the University of Cape Town), with clinical data and blood samples for genotyping, to develop clinical and genetic warfarin dosing algorithms for sub-Saharan African patients."; 681; "WARfarin anticoagulation in PATients in Sub-Saharan Africa", "War-PATH", "WarPATH", "Warfarin Anticoagulation in Patients in Sub-Saharan Africa"; ; rdfs:label "Warfarin Anticoagulation in Patients in sub-Saharan Africa"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12982 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2e9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12982; "cardiovascular disease"; "https://warpath.info/"; rdfs:comment "NIHR Global Health Research Group on warfarin anticoagulation in patients with cardiovascular disease in Sub-Saharan Africa (War-PATH) The WarPATH NIHR Global Research Group is a study between the University of Liverpool, Infectious Diseases Institute, Uganda and University of Cape Town, South Africa." . _:2e9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9537548/fullTextXML"; rdfs:comment "Participants were recruited from 12 outpatient clinics and hospital departments in Uganda and South Africa between June 2018 and March 2020 (Asiimwe et al., 2020a; Asiimwe et al., 2021)." . _:2e9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90454283"; "Meta-analysis of genome-wide association studies of stable warfarin dose in patients of African ancestry."; "PMID:39163621", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11493193/fullTextXML"; rdfs:comment "The African cohorts were obtained through the Warfarin Anticoagulation in Patients in sub-Saharan Africa (War-PATH http://warpath.info/) observational study.16, 17, 18 The War-PATH study enrolled participants receiving warfarin treatment, who were on stable dose, defined as consistent prescribed doses for 2 consecutive clinic visits in the year before recruitment." . _:2e9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational study of adults taking warfarin at a stable maintenance dose for venous thromboembolism, atrial fibrillation or valvular heart disease, Black African and, in South Africa, also of mixed ancestry, recruited from June 2018 to March 2020 at outpatient clinics and hospital departments in Uganda and South Africa by the NIHR Global Health Research Group on warfarin anticoagulation in sub-Saharan Africa (the University of Liverpool, the Infectious Diseases Institute in Kampala and the University of Cape Town), with clinical data and blood samples for genotyping, to develop clinical and genetic warfarin dosing algorithms for sub-Saharan African patients."; "PMID:36210801", "PMID:39163621", "https://clinicaltrials.gov/api/v2/studies/NCT03512080", "https://warpath.info/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2e9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 681; "actual enrollment registered on ClinicalTrials.gov"; "https://clinicaltrials.gov/api/v2/studies/NCT03512080"; rdfs:comment "\"enrollmentInfo\":{\"count\":681,\"type\":\"ACTUAL\"}" . _:2e9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "War-PATH"; . _:2ea02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WarPATH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid12990, _:genid-371333f489424440b12a13b9d98ced822608-genid12992, _:genid-371333f489424440b12a13b9d98ced822608-genid12994, _:genid-371333f489424440b12a13b9d98ced822608-genid12996; , , , , ; "GCST90455651"; "A population-based case-control study of contralateral breast cancer, designed to examine the joint roles of radiation exposure and genetic susceptibility, in which women diagnosed before age 55 with a first primary invasive breast cancer who later developed contralateral breast cancer were individually matched to women with unilateral breast cancer. Participants were identified through population-based cancer registries in the United States, Canada and Denmark and recruited in two phases, WECARE I (2001–2004) and WECARE II (2009–2012)."; 1521; 2212; "WECARE", "WECARE Study", "Women's Environment, Cancer, and Radiation Epidemiology Study"; ; rdfs:label "Women's Environmental Cancer and Radiation Epidemiology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid12990 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12992 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12994 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid12996 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ea12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12990; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27400983+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The population-based WECARE Study included 1521 cases with CBC and 2212 age- and year of first diagnosis-matched controls with unilateral breast cancer recruited during two phases in the USA, Canada, and Denmark." . _:2ea22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12992; "contralateral breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27400983+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The population-based WECARE Study included 1521 cases with CBC and 2212 age- and year of first diagnosis-matched controls with unilateral breast cancer recruited during two phases in the USA, Canada, and Denmark." . _:2ea32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12994; "radiation exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15084244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To examine the joint roles of radiation exposure and genetic susceptibility in the etiology of breast cancer, we designed a case-control study nested within five population-based cancer registries." . _:2ea42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid12996; "radiation absorbed dose to the contralateral breast after radiation therapy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15084244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To examine the joint roles of radiation exposure and genetic susceptibility in the etiology of breast cancer, we designed a case-control study nested within five population-based cancer registries." . _:2ea52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4940926/fullTextXML"; rdfs:comment "All participants were identified through eight population-based cancer registries: six in the USA, one in Canada and one in Denmark (Table 1)." . _:2ea62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC400669/fullTextXML"; rdfs:comment "All study subjects were identified, recruited, and interviewed through five population-based cancer registries, four in the USA (three Surveillance, Epidemiology and End Results registries, namely Iowa, Los Angeles County [CA], and Seattle [WA], and the Cancer Surveillance Program of Orange County [CA]) and one in Denmark (the Danish Cancer Registry)." . _:2ea72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90455651"; "A genome-wide association study of contralateral breast cancer in the Women's Environmental Cancer and Radiation Epidemiology Study."; "PMID:38263039", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10807183/fullTextXML"; rdfs:comment "We performed a genome-wide association analysis in the Women’s Environmental Cancer and Radiation Epidemiology (WECARE) Study of women with first breast cancer diagnosed at age < 55 years including 1161 with CBC who served as cases and 1668 with unilateral breast cancer (UBC) who served as controls." . _:2ea82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of contralateral breast cancer, designed to examine the joint roles of radiation exposure and genetic susceptibility, in which women diagnosed before age 55 with a first primary invasive breast cancer who later developed contralateral breast cancer were individually matched to women with unilateral breast cancer. Participants were identified through population-based cancer registries in the United States, Canada and Denmark and recruited in two phases, WECARE I (2001–2004) and WECARE II (2009–2012)."; "PMID:15084244", "PMID:27400983"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ea92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1521; "CBC cases and UBC controls who completed interview and biospecimen, WECARE I and II"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4940926/fullTextXML"; rdfs:comment "The population-based WECARE Study included 1521 cases with CBC and 2212 age- and year of first diagnosis-matched controls with unilateral breast cancer recruited during two phases in the USA, Canada, and Denmark." . _:2eaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2212; "CBC cases and UBC controls who completed interview and biospecimen, WECARE I and II"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4940926/fullTextXML"; rdfs:comment "The population-based WECARE Study included 1521 cases with CBC and 2212 age- and year of first diagnosis-matched controls with unilateral breast cancer recruited during two phases in the USA, Canada, and Denmark." . _:2eab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WECARE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13005; , ; "GCST90568461"; "A case-control study of uveal melanoma run at the University of Pennsylvania for a genome-wide association study of the cancer and of differences between tumours with monosomy and disomy of chromosome 3, whose cases were patients treated at Wills Eye Hospital in Philadelphia, recruited through the UPenn Genetic Diagnostic Laboratory with blood samples and clinical and tumour data, and whose controls were selected from participants of the Penn Medicine Biobank."; 409; 937; "WEH", "Wills Eye Hospital"; ; rdfs:label "Wills Eye Hospital GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13005 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2eac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13005; "uveal melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12226357/fullTextXML"; rdfs:comment "We recruited 409 UM cases via the UPenn Genetic Diagnostic Laboratory from patients receiving treatment at the Wills Eye Hospital (Philadelphia, PA, USA)." . _:2ead2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12226357/fullTextXML"; rdfs:comment "We recruited 409 UM cases via the UPenn Genetic Diagnostic Laboratory from patients receiving treatment at the Wills Eye Hospital (Philadelphia, PA, USA)." . _:2eae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90568461"; "Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity."; "PMID:40495383", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12226357/fullTextXML"; rdfs:comment "We recruited 409 UM cases via the UPenn Genetic Diagnostic Laboratory from patients receiving treatment at the Wills Eye Hospital (Philadelphia, PA, USA)." . _:2eaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of uveal melanoma run at the University of Pennsylvania for a genome-wide association study of the cancer and of differences between tumours with monosomy and disomy of chromosome 3, whose cases were patients treated at Wills Eye Hospital in Philadelphia, recruited through the UPenn Genetic Diagnostic Laboratory with blood samples and clinical and tumour data, and whose controls were selected from participants of the Penn Medicine Biobank."; "PMID:40495383"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2eb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 409; "uveal melanoma cases recruited and controls selected from the Penn Medicine Biobank"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12226357/fullTextXML"; rdfs:comment "We recruited 409 UM cases via the UPenn Genetic Diagnostic Laboratory from patients receiving treatment at the Wills Eye Hospital (Philadelphia, PA, USA)." . _:2eb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 937; "uveal melanoma cases recruited and controls selected from the Penn Medicine Biobank"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12226357/fullTextXML"; rdfs:comment "We recruited 409 UM cases via the UPenn Genetic Diagnostic Laboratory from patients receiving treatment at the Wills Eye Hospital (Philadelphia, PA, USA)." . _:2eb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WEH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13013; , ; "GCST90026612"; "A cross-sectional national health examination survey of a random sample of residents of Poland aged over 20, drawn from the national identity card registry by three-stage sampling stratified by voivodeship, type of urbanisation and gender, and examined in 2013–2014 with face-to-face questionnaire interviews, physical examinations and blood samples to assess the prevalence, treatment and control of cardiovascular diseases and their risk factors. It continued the first WOBASZ survey of 2003–2005 with a new, independent sample and was coordinated by the Institute of Cardiology in Warsaw with medical universities in Gdansk, Katowice, Krakow, Lodz and Poznan."; 6170; "Multi-centre National Population Health Examination Survey", "Multicenter National Health Survey II", "Multicentre National Population Health Examination Survey", "WOBASZ"; ; rdfs:label "WOBASZ II"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13013 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2eb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13013; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26620680+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The epidemiologic assessment of prevalence, control and treatment of CVD risk factors, and monitoring of healthy behaviour and morbidity due to diseases like coronary artery disease, hypertension and diabetes is very important for health policy planning. The WOBASZ II is the newest Polish population based survey, performed in 2013-2014 to evaluate prevalence, control, treatment, and morbidity." . _:2eb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26620680+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The WOBASZ II study was planned as a cross-sectional survey of a random sample of Polish residents aged over 20 years." . _:2eb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026612"; "Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases."; "PMID:34654805", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "We used 298 controls from a randomly ascertained sample from the WOBASZ II (Multicentre National Population Health Examination Survey) study, a population-based Polish cohort54." . _:2eb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional national health examination survey of a random sample of residents of Poland aged over 20, drawn from the national identity card registry by three-stage sampling stratified by voivodeship, type of urbanisation and gender, and examined in 2013–2014 with face-to-face questionnaire interviews, physical examinations and blood samples to assess the prevalence, treatment and control of cardiovascular diseases and their risk factors. It continued the first WOBASZ survey of 2003–2005 with a new, independent sample and was coordinated by the Institute of Cardiology in Warsaw with medical universities in Gdansk, Katowice, Krakow, Lodz and Poznan."; "PMID:26620680", "PMID:41144382"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2eb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6170; "persons examined in 2013-2014"; "PMID:26620680"; rdfs:comment "Out of eligible persons, 6170 (2760 men and 3410 women) were examined (the response rate 45.5%)." . _:2eb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WOBASZ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13020, _:genid-371333f489424440b12a13b9d98ced822608-genid13022; , ; ; "GCST90000529"; "A population-based inception cohort of children diagnosed with type 1 diabetes before the age of 16 in the Oxford Health Authority region of the United Kingdom, established in 1986, who were recruited within three months of diagnosis until 1997 and followed prospectively with annual measurements of HbA1c and urinary albumin excretion to determine the natural course of microalbuminuria during childhood and adolescence."; 527; "ORPS", "Oxford Regional Prospective Study", "Oxford Regional Prospective Study of Childhood Diabetes (ORPS)", "Oxford regional prospective study"; ; rdfs:label "Oxford Regional Prospective Study of Childhood Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13020 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13022 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2eb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13020; "microalbuminuria"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10097935+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1985 and 1996, 514 children (279 male) who developed type 1 diabetes before the age of 16 years (91% of those eligible from a region where ascertainment of new cases is 95%) were recruited for a longitudinal study with central annual assessment of HbAlc and albumin excretion (three urine samples)." . _:2eba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13022; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10097935+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1985 and 1996, 514 children (279 male) who developed type 1 diabetes before the age of 16 years (91% of those eligible from a region where ascertainment of new cases is 95%) were recruited for a longitudinal study with central annual assessment of HbAlc and albumin excretion (three urine samples)." . _:2ebb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10773897/fullTextXML"; rdfs:comment "Multi-center regional (Oxford regional prospective study, the United Kingdom)" . _:2ebc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000529"; "Analysis of overlapping genetic association in type 1 and type 2 diabetes."; "PMID:33830302", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8099827/supplementaryFiles"; rdfs:comment "Oxford Regional Prospective Study of Childhood Diabetes (ORPS)" . _:2ebd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based inception cohort of children diagnosed with type 1 diabetes before the age of 16 in the Oxford Health Authority region of the United Kingdom, established in 1986, who were recruited within three months of diagnosis until 1997 and followed prospectively with annual measurements of HbA1c and urinary albumin excretion to determine the natural course of microalbuminuria during childhood and adolescence."; "PMID:10097935", "PMID:18349042"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ebe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 527; "children recruited at diagnosis 1986-1997"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2276285/"; rdfs:comment "From 1986 to 1997, 91% (n=527) of eligible children were recruited at a mean age 8.8 (SD 4.0) years." . _:2ebf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORPS"; . _:2ec02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oxford Regional Prospective Study of Childhood Diabetes (ORPS)"; . a owl:NamedIndividual, ; , , , , , , , , , ; "GCST90000618"; "A consortium, formed in 2008, of cohort studies from the United Kingdom, the United States, Canada, the Netherlands, Germany, Sweden, Italy and Finland that meta-analyses their genome-wide association results for circulating 25-hydroxyvitamin D concentration in people of European descent, to identify genetic determinants of vitamin D status and insufficiency."; 79366; "SUNLIGHT", "SUNLIGHT Consortium", "SUNLIGHT consortium"; ; rdfs:label "Study of Underlying Genetic Determinants of Vitamin D and Highly Related Traits"@en . _:2ec12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-017-02662-2/MediaObjects/41467_2017_2662_MOESM1_ESM.pdf"; rdfs:comment "It represents a collaboration of more than 30 studies from the United Kingdom, United States, Canada, Netherlands, Germany, Sweden, Italy, and Finland." . _:2ec22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000618"; "Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration."; "PMID:32242144", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7118120/fullTextXML"; rdfs:comment "The largest GWAS for 25OHD to date, from the SUNLIGHT consortium8, used BMI as a covariate, hence we also generated UKB results including BMI in the model and used those for meta-analysis." . _:2ec32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium, formed in 2008, of cohort studies from the United Kingdom, the United States, Canada, the Netherlands, Germany, Sweden, Italy and Finland that meta-analyses their genome-wide association results for circulating 25-hydroxyvitamin D concentration in people of European descent, to identify genetic determinants of vitamin D status and insufficiency."; "PMID:20541252", "PMID:29343764", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-017-02662-2/MediaObjects/41467_2017_2662_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ec42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 79366; "individuals of European ancestry in the 2018 discovery meta-GWAS of 31 cohorts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5772647/fullTextXML"; rdfs:comment "We have performed a large 25-hydroxyvitamin D meta-GWAS involving 31 studies with a total of 79,366 individuals." . _:2ec52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUNLIGHT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13035; ; , , , , , , , , , , ; "GCST90134528"; "A consortium established to combine the results of genome-wide association studies from cohorts in Europe, the United States, Canada and Australia, beginning with lifetime cannabis use, in order to identify the genetic variants underlying individual differences in cannabis use."; 32330; "ICC"; ; rdfs:label "International Cannabis Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13035 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ec62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13035; "lifetime cannabis use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4872459/fullTextXML"; rdfs:comment "In response to this need, the International Cannabis Consortium was established to combine the results of multiple GWASs to identify the genetic variants underlying individual differences in cannabis use phenotypes." . _:2ec72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Ftp.2016.36/MediaObjects/41398_2016_BFtp201636_MOESM267_ESM.doc"; rdfs:comment "Utrecht: Utrecht Cannabis Cohort (CannabisQuest) –The Netherlands" . _:2ec82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "BLTS Australia 721 60 57 26 (18–33)" . _:2ec92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "SYS Canada 551 51 56 50 (36–65)" . _:2eca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "EGCUT1 Estonia 2765 1.3 55 34 (18–66)" . _:2ecb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "FinnTwin Finland 1029 27 52 23 (20–29)" . _:2ecc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "NTR Netherlands 4653 27 66 37 (18–60)" . _:2ecd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "HUVH Spain 981 20 30 36 (17–87)" . _:2ece2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "ALSPAC UK 2976 42 56 18 (17–19)" . _:2ecf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4872459/"; rdfs:comment "CADD USA 853 79 30 25 (18–36)" . _:2ed02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90134528"; "Shared Genetics and Causality Between Decaffeinated Coffee Consumption and Neuropsychiatric Diseases: A Large-Scale Genome-Wide Cross-Trait Analysis and Mendelian Randomization Analysis."; "PMID:35898629", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9309364/fullTextXML"; rdfs:comment "The GWAS summary statistics for LCU (43,380 cases and 118,702 controls) and ALS (12,577 cases and 23,475 controls) were downloaded from the International Cannabis Consortium (ICC; Available online: https://www.ru.nl/bsi/research/group-pages/substance-use-addiction-food-saf/vm-saf/genetics/international-cannabis-consortium-icc/) and Project MinE, an international collaboration of investigators aiming to unravel the genetic basis of ALS, respectively (Available online: http://databrowser.projectmine.com/)." . _:2ed12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium established to combine the results of genome-wide association studies from cohorts in Europe, the United States, Canada and Australia, beginning with lifetime cannabis use, in order to identify the genetic variants underlying individual differences in cannabis use."; "PMID:27023175", "PMID:30150663"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ed22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32330; "individuals of European ancestry in the 13 discovery cohorts of the 2016 lifetime cannabis use meta-GWAS"; "PMID:27023175"; rdfs:comment "We conducted a meta-analysis of genome-wide association data of 13 cohorts (N=32 330) and four replication samples (N=5627)." . _:2ed32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13050, _:genid-371333f489424440b12a13b9d98ced822608-genid13052; , ; , ; "GCST90255389"; "A cross-sectional, family-based study, the first cohort of the Center for Oral Health Research in Appalachia, that from 2003 recruited households with at least one biological parent–child pair (the child aged 1–18 years), together with all other household members, mainly in rural counties of central West Virginia and western Pennsylvania, United States, and assessed them by interviews, questionnaires, oral health and microbiological examinations and DNA collection to study how individual, family and community factors contribute to oral disease in Appalachia."; "COHRA etiology study", "COHRA1", "Center for Oral Health Research in Appalachia, cohort 1"; ; rdfs:label "Center for Oral Health Research in Appalachia cohort 1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13050 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13052 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ed42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13050; "dental caries"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2443132/fullTextXML"; rdfs:comment "An initial aim of COHRA is to determine the contributions of individual, family, and community factors to oral diseases in Appalachian children." . _:2ed52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13052; "oral diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2443132/fullTextXML"; rdfs:comment "An initial aim of COHRA is to determine the contributions of individual, family, and community factors to oral diseases in Appalachian children." . _:2ed62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9858612/fullTextXML"; rdfs:comment "The first cohort of the Center for Oral Health Research in Appalachia (COHRA1) is a cross-sectional study comprising members of households living in rural West Virginia and Western Pennsylvania—a region with a high prevalence of poor oral health outcomes [4,15]." . _:2ed72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255389"; "Association of Early Childhood Caries with Bitter Taste Receptors: A Meta-Analysis of Genome-Wide Association Studies and Transcriptome-Wide Association Study."; "PMID:36672800", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9858612/fullTextXML"; rdfs:comment "The first cohort of the Center for Oral Health Research in Appalachia (COHRA1) is a cross-sectional study comprising members of households living in rural West Virginia and Western Pennsylvania—a region with a high prevalence of poor oral health outcomes [4,15]." . _:2ed82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional, family-based study, the first cohort of the Center for Oral Health Research in Appalachia, that from 2003 recruited households with at least one biological parent–child pair (the child aged 1–18 years), together with all other household members, mainly in rural counties of central West Virginia and western Pennsylvania, United States, and assessed them by interviews, questionnaires, oral health and microbiological examinations and DNA collection to study how individual, family and community factors contribute to oral disease in Appalachia."; "PMID:18522740", "PMID:26106416", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000095.v3.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ed92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHRA1"; . a owl:NamedIndividual, ; , , ; "GCST90270268"; "A longitudinal community-based observational study, commissioned by the town and conducted since 2011 by Kanazawa University, of residents of Shika Town on the Noto Peninsula, Ishikawa Prefecture, Japan, which aims to find ways of preventing lifestyle-related diseases: residents aged 40 and over in four model districts of the town complete questionnaires on diet, lifestyle and health and undergo a comprehensive health examination, with blood taken for biochemical tests and DNA."; "The acronym SHIP also denotes Study of Health in Pomerania (COHO:0000202); this term is Shikamachi health improvement practice genome cohort study."@en; 4121; "SHIKA study", "SHIP", "SHIP genome cohort study", "SHIP_Shikamachi", "Shika study", "Shika-machi Super Preventive Health Examination", "Shikamachi Health Improvement Practice genome cohort"; ; rdfs:label "Shikamachi health improvement practice genome cohort study"@en . _:2eda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10125868/fullTextXML"; rdfs:comment "This study was part of the Shikamachi health improvement practice (SHIP) genome cohort study, a longitudinal observational study of the residents of Shika Town, located in Ishikawa Prefecture, Japan, as previously described [25]." . _:2edb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90270268"; "Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants."; "PMID:36599956", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10125868/fullTextXML"; rdfs:comment "This study was part of the Shikamachi health improvement practice (SHIP) genome cohort study, a longitudinal observational study of the residents of Shika Town, located in Ishikawa Prefecture, Japan, as previously described [25]." . _:2edc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal community-based observational study, commissioned by the town and conducted since 2011 by Kanazawa University, of residents of Shika Town on the Noto Peninsula, Ishikawa Prefecture, Japan, which aims to find ways of preventing lifestyle-related diseases: residents aged 40 and over in four model districts of the town complete questionnaires on diet, lifestyle and health and undergo a comprehensive health examination, with blood taken for biochemical tests and DNA."; "PMID:29207502", "PMID:30086711", "PMID:34347822", "PMID:35633918", "PMID:36599956"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2edd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4121; "residents aged 40 and over in the four model districts (questionnaire survey, 2015-2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5748769/fullTextXML"; rdfs:comment "The study population of the Shika study consisted of 4121 individuals from 40 years of age." . _:2ede2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIP"; . _:2edf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHIP_Shikamachi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13064; , ; "GCST90707263"; "An ongoing multicentre genetic study led by the University of Leicester, United Kingdom, with support from the NIHR Leicester Biomedical Research Centre, that recruits patients with bicuspid aortic valve disease, identified from clinic and discharge letters and confirmed by cardiac imaging, together with relatives of patients with a family history of the disease, who are offered cascade echocardiographic screening, and collects clinical questionnaire data and blood for DNA to study the genetic causes of bicuspid aortic valve disease."; "The acronym BRAVE also denotes Bangladesh Risk of Acute Vascular Events Study (COHO:0001546); this term is Bicuspid aoRtic vAlVe gEnetic research."@en; "BRAVE", "BRAVE study", "BRAVE_study", "University of Leicester Bicuspid aoRtic vAlVe gEnetic research"; ; rdfs:label "Bicuspid aoRtic vAlVe gEnetic research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13064 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ee02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13064; "bicuspid aortic valve disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9240330/fullTextXML"; rdfs:comment "The population of our study were participants of the University of Leicester Bicuspid aoRtic vAlVe gEnetic research (BRAVE)—an ongoing, multicentre recruitment of patients with BAV disease." . _:2ee12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10153415/fullTextXML"; rdfs:comment "The UK cohort comprised 697 BAV patients that were recruited by the University Hospitals of Leicester as well as 7190 controls that were part of the UK Biobank." . _:2ee22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90707263"; "Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve."; "PMID:41645906", "https://europepmc.org/api/getPdf?pmcid=PMC13001617"; rdfs:comment "The BRAVE study is supported by the National Institute for Health Research Leicester Biomedical Research Centre." . _:2ee32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing multicentre genetic study led by the University of Leicester, United Kingdom, with support from the NIHR Leicester Biomedical Research Centre, that recruits patients with bicuspid aortic valve disease, identified from clinic and discharge letters and confirmed by cardiac imaging, together with relatives of patients with a family history of the disease, who are offered cascade echocardiographic screening, and collects clinical questionnaire data and blood for DNA to study the genetic causes of bicuspid aortic valve disease."; "PMID:32720365", "PMID:35288444"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ee42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRAVE"; . _:2ee52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRAVE_study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13071, _:genid-371333f489424440b12a13b9d98ced822608-genid13073, _:genid-371333f489424440b12a13b9d98ced822608-genid13075; , ; "GCST90026612"; "An observational case-control study at the Icahn School of Medicine at Mount Sinai, New York, United States, that since 2013 has enrolled adults with fibromuscular dysplasia and, since its expansion, adults with spontaneous coronary artery dissection or cervical artery dissection, together with healthy controls from the general population matched to the fibromuscular dysplasia cases by age and sex, and collects blood (DNA, plasma and serum) and skin-biopsy fibroblasts for a systems-genetics study of the key drivers of these arterial diseases."; 375; "DEFINE", "DEFINE Study", "DEFINE-FMD", "DEFINE-FMD Study", "DEFINE-FMD study", "Define-FMD Study"; ; rdfs:label "Defining the Basis of Fibromuscular Dysplasia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13071 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13073 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13075 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ee62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13071; "spontaneous coronary artery dissection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "DEFINE-FMD purpose was to establish a library of fibroblasts, DNA, plasma and serum from patients with FMD and unaffected healthy control subjects." . _:2ee72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13073; "cervical artery dissection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "DEFINE-FMD purpose was to establish a library of fibroblasts, DNA, plasma and serum from patients with FMD and unaffected healthy control subjects." . _:2ee82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13075; "fibromuscular dysplasia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "DEFINE-FMD purpose was to establish a library of fibroblasts, DNA, plasma and serum from patients with FMD and unaffected healthy control subjects." . _:2ee92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/supplementaryFiles"; rdfs:comment "(9) DEFINE-FMD, USA, N: 108, N Women (%): 108 (100.0)" . _:2eea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026612"; "Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases."; "PMID:34654805", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/fullTextXML"; rdfs:comment "DEFINE-FMD purpose was to establish a library of fibroblasts, DNA, plasma and serum from patients with FMD and unaffected healthy control subjects." . _:2eeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational case-control study at the Icahn School of Medicine at Mount Sinai, New York, United States, that since 2013 has enrolled adults with fibromuscular dysplasia and, since its expansion, adults with spontaneous coronary artery dissection or cervical artery dissection, together with healthy controls from the general population matched to the fibromuscular dysplasia cases by age and sex, and collects blood (DNA, plasma and serum) and skin-biopsy fibroblasts for a systems-genetics study of the key drivers of these arterial diseases."; "PMID:31424497", "PMID:39271816", "https://clinicaltrials.gov/api/v2/studies/NCT01967511"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2eec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 375; "subjects enrolled by July 2019 (stated as 'over 375', a lower bound; about half cases, half controls)"; "https://europepmc.org/api/getPdf?pmcid=PMC6918065"; rdfs:comment "DEFINE-FMD continues to recruit subjects and as of July 2019 over 375 subjects have been enrolled (approximately 50% cases, 50% controls)." . _:2eed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEFINE"; . _:2eee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEFINE-FMD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13083; , ; ; "GCST90255389"; "A prospective mother–child cohort of the Center for Oral Health Research in Appalachia, a collaboration of the University of Pittsburgh and West Virginia University, that since 2011 has enrolled healthy, English-speaking, White pregnant women aged 18 and over in Pittsburgh, Pennsylvania, and across West Virginia, United States, and follows the women and their children from pregnancy into early childhood with oral examinations, questionnaires and oral microbial and DNA samples, to study the genetic, microbial and environmental factors in oral health."; 1015; "COHRA2", "COHRA2 study", "Center for Oral Health Research in Appalachia 2", "Center for Oral Health Research in Appalachia Cohort 2", "Center for Oral Health Research in Appalachia, cohort 2"; ; rdfs:label "Center for Oral Health Research in Appalachia cohort 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13083 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2eef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13083; "dental caries"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4451284/fullTextXML"; rdfs:comment "In response to these findings, a second major study (COHRA2, 2011–present) was initiated to investigate oral health in pregnant women and their babies, specifically the factors predisposing a relatively high proportion of very young Northern Appalachian children to dental caries." . _:2ef02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4451284/fullTextXML"; rdfs:comment "The COHRA2 protocol is presented in detail, including inclusion criteria (healthy, adult, pregnant, US Caucasian, English speaking, and nonimmunocompromised women), recruiting (two sites: Pittsburgh, Pennsylvania, and West Virginia, USA), assessments (demographic, medical, dental, psychosocial/behavioral, and oral microbial samples and DNA), timelines (longitudinal from pregnancy to young childhood), quality control, and retention rates." . _:2ef12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90255389"; "Association of Early Childhood Caries with Bitter Taste Receptors: A Meta-Analysis of Genome-Wide Association Studies and Transcriptome-Wide Association Study."; "PMID:36672800", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9858612/fullTextXML"; rdfs:comment "The second cohort of the Center for Oral Health Research in Appalachia (COHRA2) is a longitudinal study of the genetic, microbial, and environmental factors impacting oral health and is separate from COHRA1." . _:2ef22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective mother–child cohort of the Center for Oral Health Research in Appalachia, a collaboration of the University of Pittsburgh and West Virginia University, that since 2011 has enrolled healthy, English-speaking, White pregnant women aged 18 and over in Pittsburgh, Pennsylvania, and across West Virginia, United States, and follows the women and their children from pregnancy into early childhood with oral examinations, questionnaires and oral microbial and DNA samples, to study the genetic, microbial and environmental factors in oral health."; "PMID:26089906", "PMID:38404680"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ef32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1015; "analysed subset: mothers enrolled Nov 2011-Feb 2017 who completed at least one postpartum visit"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10890941/fullTextXML"; rdfs:comment "The current study included 1,015 participants from COHRA2 continuously enrolled between November 2011 and February 2017 (followed through May 2020) and 116 participants from COHRASmile enrolled between October 2017 and March 2019 (followed through August 2021) (Fig. 1)." . _:2ef42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COHRA2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13090, _:genid-371333f489424440b12a13b9d98ced822608-genid13092; , ; "GCST90104565"; "A family-based study, run at the Hospital de la Santa Creu i Sant Pau in Barcelona, of extended Spanish families recruited from 2006 to 2010 through a proband with idiopathic thrombophilia (recurrent thrombosis, a spontaneous thrombosis with an affected first-degree relative, or thrombosis before age 45, with known biological causes excluded), each family having at least ten living members in three or more generations. It follows the GAIT-1 Project with a new set of families and studies the genetic basis of thrombosis risk and of intermediate phenotypes such as thrombin generation."; 935; "GAIT-2", "GAIT-2 Project", "GAIT-2 study", "GAIT2", "Genetic Analysis of Idiopathic Thrombophilia (2) Project", "Genetic Analysis of Idiopathic Thrombophilia 2"; ; rdfs:label "Genetic Analysis of Idiopathic Thrombophilia 2 Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13090 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13092 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ef52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13090; "idiopathic thrombophilia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4718515/fullTextXML"; rdfs:comment "Families were selected through a proband with idiopathic thrombophilia, which was defined as recurrent thrombotic events (at least one of which was spontaneous), a single spontaneous thrombotic episode plus a first-degree relative also affected, or onset of thrombosis before age 45." . _:2ef62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13092; "venous thrombosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4718515/fullTextXML"; rdfs:comment "Families were selected through a proband with idiopathic thrombophilia, which was defined as recurrent thrombotic events (at least one of which was spontaneous), a single spontaneous thrombotic episode plus a first-degree relative also affected, or onset of thrombosis before age 45." . _:2ef72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9251712/fullTextXML"; rdfs:comment "All of the individuals were recruited at the Hospital de la Santa Creu i Sant Pau (Barcelona, Spain) from 2006 to 2010." . _:2ef82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90104565"; "Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk."; "PMID:35272364", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9251712/fullTextXML"; rdfs:comment "We aimed to identify genes involved in the regulation of cfDNA levels using data from the Genetic Analysis of Idiopathic Thrombophilia (GAIT-2) Project." . _:2ef92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study, run at the Hospital de la Santa Creu i Sant Pau in Barcelona, of extended Spanish families recruited from 2006 to 2010 through a proband with idiopathic thrombophilia (recurrent thrombosis, a spontaneous thrombosis with an affected first-degree relative, or thrombosis before age 45, with known biological causes excluded), each family having at least ten living members in three or more generations. It follows the GAIT-1 Project with a new set of families and studies the genetic basis of thrombosis risk and of intermediate phenotypes such as thrombin generation."; "PMID:26784699", "PMID:35272364"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2efa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 935; "individuals in 35 extended families"; "PMID:26784699"; rdfs:comment "This sample consisted of 935 individuals in 35 extended families selected through a proband with idiopathic thrombophilia." . _:2efb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIT-2"; . _:2efc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIT2"; . a owl:NamedIndividual, ; "GCST90000048"; "A consortium of cohort studies that carries out genome-wide association meta-analyses of human reproductive behaviour, such as age at first sex, age at first birth, number of children ever born and childlessness, in people of European ancestry; after a first study of age at first birth and number of children ever born, it meta-analysed cohorts for age at first sex and age at first birth."; 542901; "HRBC"; ; rdfs:label "Human Reproductive Behaviour Consortium"@en . _:2efd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90000048"; "Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour."; "PMID:34211149", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7612120/fullTextXML"; rdfs:comment "Authors in the Human Reproductive Behaviour Consortium contributed the valuable data, conducted cohort specific GWAS and other analyses, and contributed through the administration, management, and data collection for the participating cohorts." . _:2efe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of cohort studies that carries out genome-wide association meta-analyses of human reproductive behaviour, such as age at first sex, age at first birth, number of children ever born and childlessness, in people of European ancestry; after a first study of age at first birth and number of children ever born, it meta-analysed cohorts for age at first sex and age at first birth."; "PMID:34211149"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2eff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 542901; "individuals in the 2021 age-at-first-birth meta-GWAS of 36 studies"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7612120/fullTextXML"; rdfs:comment "For Age at First Birth (AFB), we included 542,901 individuals (n=124,088 males; n=418,758 females) from 36 studies." . _:2f002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HRBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13104; , ; "GCST90992867"; "A cohort of adult volunteers living across Italy, selected by the Italian National Research Council (CNR) from respondents to its EPICOVID-19 web survey who had agreed to be recontacted, who completed an online health and lifestyle questionnaire and gave blood at collection centres in several Italian regions, with repeat sampling about 5 and 10 months later, between May 2021 and February 2022. It was set up to study the serological and genetic factors in the immune response to SARS-CoV-2 infection and COVID-19 vaccination and in susceptibility to infection, and to build a serum and DNA biobank."; 7169; "SerGen-Covid-19", "SerGenCovid19", "Serum Genetic Covid-19 study"; ; rdfs:label "SerGenCovid-19"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13104 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13104; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12875989/fullTextXML"; rdfs:comment "The samples used in this study are part of the SerGenCovid-19 project (https://sergencovid19.d4science.org), an initiative of the Italian National Research Council (Consiglio Nazionale delle Ricerche, CNR) aimed at identifying the genetic and serological factors involved in response to vaccination against COVID-19 and susceptibility to SARS-CoV-2 infection." . _:2f022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12875989/fullTextXML"; rdfs:comment "The SerGenCovid-19 project successfully collected data from 7,169 participants across Italy." . _:2f032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90992867"; "CMTM8 variants influence BNT162b2 COVID-19 vaccination response by regulating granulocytic/polymorphonuclear myeloid-derived suppressor cell activity."; "PMID:41659846", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12875989/fullTextXML"; rdfs:comment "Here, we conducted a Genome Wide Association Study (GWAS) on anti-S IgG levels following Pfizer-BioNTech COVID-19 vaccination in 1,968 participants from the SerGenCovid-19 initiative, a cohort study comprising 7,169 genetically characterized individuals from the general Italian population." . _:2f042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adult volunteers living across Italy, selected by the Italian National Research Council (CNR) from respondents to its EPICOVID-19 web survey who had agreed to be recontacted, who completed an online health and lifestyle questionnaire and gave blood at collection centres in several Italian regions, with repeat sampling about 5 and 10 months later, between May 2021 and February 2022. It was set up to study the serological and genetic factors in the immune response to SARS-CoV-2 infection and COVID-19 vaccination and in susceptibility to infection, and to build a serum and DNA biobank."; "PMID:41659846", "https://www.cnr.it/it/comunicato-stampa/10010/parte-il-progetto-sergen-covid-19", "https://www.irib.cnr.it/progetti/virus-memory/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7169; "participants from whom data were collected, May 2021 to February 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12875989/fullTextXML"; rdfs:comment "The SerGenCovid-19 project successfully collected data from 7,169 participants across Italy." . _:2f062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SerGen-Covid-19"; . _:2f072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SerGenCovid19"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13112; , ; ; "GCST90026609"; "A randomised, three-arm phase III trial led by the Cancer and Leukemia Group B, with the North Central Cancer Treatment Group (as N063H), the Eastern Cooperative Oncology Group and the Southwest Oncology Group taking part, that enrolled patients aged 18 or over with locally recurrent (stage IIIC) or metastatic (stage IV) breast cancer and no prior chemotherapy for metastatic disease at institutions in the United States from 2008 to 2011, comparing first-line paclitaxel once per week with nab-paclitaxel or ixabepilone once per week, each given with bevacizumab (optional from March 2011), with progression-free survival as the primary end point."; 799; "Cancer and Leukemia Group B 40502", "NCCTG N063H"; ; rdfs:label "CALGB 40502"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13112 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13112; "metastatic breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33981951+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cancer and Leukemia Group B 40502 was a randomized trial of first-line taxane-based chemotherapy for patients with metastatic breast cancer." . _:2f092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4500830/"; rdfs:comment "The following list provides institution names, clinicians who participated in this study, and their supporting grant numbers in parentheses: Bay Area Tumor Institute Community Clinical Oncology Program (CCOP), Oakland, CA" . _:2f0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026609"; "Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients."; "PMID:34616010", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34616010+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study (GWAS) meta-analysis was performed in 1039 bevacizumab-treated patients of European ancestry in four clinical trials (CALGB 40502, 40503, 80303, 90401)." . _:2f0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, three-arm phase III trial led by the Cancer and Leukemia Group B, with the North Central Cancer Treatment Group (as N063H), the Eastern Cooperative Oncology Group and the Southwest Oncology Group taking part, that enrolled patients aged 18 or over with locally recurrent (stage IIIC) or metastatic (stage IV) breast cancer and no prior chemotherapy for metastatic disease at institutions in the United States from 2008 to 2011, comparing first-line paclitaxel once per week with nab-paclitaxel or ixabepilone once per week, each given with bevacizumab (optional from March 2011), with progression-free survival as the primary end point."; "PMID:26056183", "PMID:33981951", "https://clinicaltrials.gov/api/v2/studies/NCT00785291"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 799; "patients enrolled and randomly assigned, 2008-2011"; "https://europepmc.org/api/getPdf?pmcid=PMC4500830"; rdfs:comment "In all, 799 patients were enrolled and randomly assigned; 16 did notstarttreatment:eightwererandomlyassignedtopaclitaxel,fourto nab-paclitaxel, and four to ixabepilone (CONSORT diagram; Fig 1)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13118; , ; "GCST90026612"; "A longitudinal population study by investigators of Ghent University, Belgium, of men and women aged about 35 to 55 and free from overt cardiovascular disease, randomly sampled from the population lists of the twinned communities of Erpe-Mere and Nieuwerkerken (partners and relatives living there were also eligible), examined at a single local study site in 2002–2004 and again in 2011–2016, to study the interplay between ageing, cardiovascular haemodynamics and inflammation in preclinical cardiovascular disease."; 2524; "ASKLEPIOS", "ASKLEPIOS study", "Asklepios study"; ; rdfs:label "Asklepios Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13118 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13118; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17446795+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Asklepios Study is a longitudinal population study focusing on the interplay between ageing, cardiovascular haemodynamics and inflammation in (preclinical) cardiovascular disease." . _:2f0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17446795+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The 2524 participants (1301 women) are a representative cohort of 35-55-year-old individuals, free from overt cardiovascular disease at study initiation, randomly sampled from the twinned Belgian communities of Erpe-Mere and Nieuwerkerken." . _:2f0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90026612"; "Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases."; "PMID:34654805", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8521585/supplementaryFiles"; rdfs:comment "Depending on case control studies, controls were either ascertained from country matched population-based cohorts (3C Study, WOBASZ II and ASKLEPIOS), recruited specifically for the purpose of the study (DEFINE Study) or extracted from local clinical registries linked to electronic health record data (MGI, Mayo Clinic)." . _:2f102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal population study by investigators of Ghent University, Belgium, of men and women aged about 35 to 55 and free from overt cardiovascular disease, randomly sampled from the population lists of the twinned communities of Erpe-Mere and Nieuwerkerken (partners and relatives living there were also eligible), examined at a single local study site in 2002–2004 and again in 2011–2016, to study the interplay between ageing, cardiovascular haemodynamics and inflammation in preclinical cardiovascular disease."; "PMID:17446795", "PMID:29695838", "PMID:31357728"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2524; "subjects examined at baseline (round 1, 2002-2004)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6723474/fullTextXML"; rdfs:comment "The Asklepios study comprises 2524 subjects (1301 women) approximately 35 to 55 years of age at the baseline examination in 2002–2004 (round 1), with a complete re-examination of 91% of subjects after a median of 10.1 (9.8–10.8) years of follow-up (round 2: in 2011–2016)." . _:2f122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASKLEPIOS"; . a owl:NamedIndividual, ; , , , , , , , , , ; "GCST90429011"; "A consortium of population-based cohorts in Europe and Australia with genome-wide genotypes and morning plasma cortisol measured in blood sampled at a controlled time of day, funded by the Chief Scientist Office of the Scottish Government and the British Heart Foundation, that combines their participants of European ancestry in genome-wide association meta-analyses of morning plasma cortisol, formed to identify genetic determinants of inter-individual variation in hypothalamic-pituitary-adrenal axis function."; 25314; "CORNET", "CORNET consortium", "CORtisol NETwork", "CORtisol NETwork Consortium", "Cortisol Network"; ; rdfs:label "CORtisol NETwork consortium"@en . _:2f132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4091794/supplementaryFiles"; rdfs:comment "The Western Australia Pregnancy Cohort (Raine) recruited 2,900 pregnancies from King Edward Memorial Hospital between 1989 and 1991 as part of a randomised controlled trial which evaluated repeated ultrasounds in pregnancy." . _:2f142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8144017/supplementaryFiles"; rdfs:comment "The CROATIA-Split study, Croatia, is a population-based, cross-sectional study in the Dalmatian City of Split that so far includes 1000 examinees aged 18-95." . _:2f152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8144017/supplementaryFiles"; rdfs:comment "The Helsinki Birth Cohort Study (HBCS) is composed of 8,760 individuals born between the years 1934-44 in one of the two main maternity hospitals in Helsinki, Finland." . _:2f162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8144017/supplementaryFiles"; rdfs:comment "The Study of Health in Pomerania (SHIP) is a population-based project conducted in Northeast Germany." . _:2f172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4091794/supplementaryFiles"; rdfs:comment "The InCHIANTI study is a population-based epidemiological study aimed at evaluating factors that influence mobility in the older population living in the Chianti region of Tuscany, Italy." . _:2f182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8144017/supplementaryFiles"; rdfs:comment "The Rotterdam Study (RS) is an ongoing population-based cohort study of risk factors for chronic diseases in the elderly which includes approximately 8,000 participants who live in Rotterdam." . _:2f192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8144017/supplementaryFiles"; rdfs:comment "The MrOS Sweden cohort consist of three sub-cohorts from three different Swedish cities (n=1,005 in Malmo, n=1,010 in Göteborg, and n=999 in Uppsala)." . _:2f1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8144017/supplementaryFiles"; rdfs:comment "ALSPAC recruited pregnant women resident in Avon, UK with expected dates of delivery 1st April 1991 to 31st December 1992." . _:2f1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90429011"; "Assessing the Role of Cortisol in Anxiety, Major Depression, and Neuroticism: A Mendelian Randomization Study Using SERPINA6/SERPINA1 Variants."; "PMID:38525495", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10959652/fullTextXML"; rdfs:comment "The CORNET consortium, with a pooled mean age (SD) of 53.3 (11.2) years and 36.3% men, was a GWAS meta-analysis of 25,314 participants of European ancestry from 17 European population-based cohorts adjusted for age, sex, and genetic principal components (PCs) for population structure." . _:2f1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of population-based cohorts in Europe and Australia with genome-wide genotypes and morning plasma cortisol measured in blood sampled at a controlled time of day, funded by the Chief Scientist Office of the Scottish Government and the British Heart Foundation, that combines their participants of European ancestry in genome-wide association meta-analyses of morning plasma cortisol, formed to identify genetic determinants of inter-individual variation in hypothalamic-pituitary-adrenal axis function."; "PMID:25010111", "PMID:33469137"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25314; "subjects in the extended 2021 GWAS meta-analysis of morning plasma cortisol (17 cohorts)"; "PMID:33469137"; rdfs:comment "The CORNET consortium extended its genome-wide association meta-analysis for morning plasma cortisol from 12,597 to 25,314 subjects and from ~2.2 M to ~7 M SNPs, in 17 population-based cohorts of European ancestries." . _:2f1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORNET"; . a owl:NamedIndividual, ; , ; ; "PMID:41550966"; "A prospective, multi-ethnic birth cohort run from Amsterdam UMC that recruited pregnant women living in Amsterdam, the Netherlands, at their first prenatal visit between January 2003 and March 2004, and follows their children from pregnancy into young adulthood to identify factors in pregnancy and early childhood that explain later health and health inequalities, with particular attention to differences between ethnic groups."; "The acronym ABCD also denotes Adolescent Brain Cognitive Development Study (COHO:0000545); this term is Amsterdam Born Children and their Development."@en; 8266; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ABCD"; "ABCD", "AmBCD", "Amsterdam-Born Children and their Development", "The Amsterdam Born Children and their Development Study"; ; rdfs:label "Amsterdam Born Children and their Development"@en; rdfs:seeAlso . _:2f1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7805191/fullTextXML"; rdfs:comment "Data were obtained from the Amsterdam Born Children and their Development (ABCD) study, a large prospective birth cohort in Amsterdam, the Netherlands" . _:2f202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41550966"; "Maternal thyroid function in the first half of pregnancy and neurodevelopmental outcomes in early adolescence in the Amsterdam Born Children and their Development (ABCD) cohort."; "PMID:41550966", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41550966+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Maternal thyroid function in the first half of pregnancy and neurodevelopmental outcomes in early adolescence in the Amsterdam Born Children and their Development (ABCD) cohort." . _:2f212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multi-ethnic birth cohort run from Amsterdam UMC that recruited pregnant women living in Amsterdam, the Netherlands, at their first prenatal visit between January 2003 and March 2004, and follows their children from pregnancy into young adulthood to identify factors in pregnancy and early childhood that explain later health and health inequalities, with particular attention to differences between ethnic groups."; "PMID:41550966", "https://abcd.amsterdamumc.nl/en/background-information-abcd-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8266; "pregnant women recruited at the first prenatal visit (of 12,393 eligible), 2003-2004"; "PMID:41550966"; rdfs:comment "Pregnant women living in Amsterdam between January 2003 and March 2004 were eligible to participate in the Amsterdam Born Children and their Development cohort study (n = 12,393) and were recruited at the first prenatal visit (n = 8266) [44]." . _:2f232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCD"; . _:2f242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AmBCD"; . a owl:NamedIndividual, ; , ; ; "PMID:33216869"; "An ongoing prospective cohort study, started in 2013 at the Alzheimer Center Amsterdam (Amsterdam UMC), of Dutch-speaking centenarians in the Netherlands who report being cognitively healthy, as confirmed by an informant, and since 2017 also of their first-degree family members and partners, set up to identify characteristics associated with escaping or delaying cognitive decline. Centenarians are visited at home for interviews, neuropsychological testing and blood sampling, followed annually until death, and offered post-mortem brain donation."; 332; "100-plus", "100-plus Study of cognitively healthy centenarians", "The 100-plus Study of cognitively healthy centenarians"; rdfs:label "100-plus Study"@en . _:2f252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6290855/fullTextXML"; rdfs:comment "For this, we initiated the 100-plus Study in 2013 at the Alzheimer Center Amsterdam in the Netherlands" . _:2f262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33216869"; "Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum."; "PMID:33216869", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8087277/fullTextXML"; rdfs:comment "As cases, we used a sample of 358 participants from the 100-plus Study cohort (20)." . _:2f272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective cohort study, started in 2013 at the Alzheimer Center Amsterdam (Amsterdam UMC), of Dutch-speaking centenarians in the Netherlands who report being cognitively healthy, as confirmed by an informant, and since 2017 also of their first-degree family members and partners, set up to identify characteristics associated with escaping or delaying cognitive decline. Centenarians are visited at home for interviews, neuropsychological testing and blood sampling, followed annually until death, and offered post-mortem brain donation."; "PMID:30362018"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 332; "centenarians included by September 2018 (family members and partners not counted)"; "PMID:30362018"; rdfs:comment "To date (September 2018), 332 centenarians were included in the study." . _:2f292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "100-plus"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13148; , ; ; ; "PMID:22773825"; "A family-based study of young-onset breast cancer, conducted by the US National Institute of Environmental Health Sciences as an offshoot of the Sister Study, that in 2008–2010 enrolled women diagnosed with breast cancer before age 50 who had a sister in the Sister Study, together with their parents, and used the breast cancer-free Sister Study sisters as matched controls, to study genetic and environmental causes of young-onset breast cancer. The affected women are followed prospectively as breast cancer survivors."; 1422; 1669; "2SISTER", "The Two Sister Study"; rdfs:label "Two Sister Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13148 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13148; "young-onset breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22773825+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted the Two Sister Study, a sister-matched case-control study, by enrolling 1422 women between September 2008 and December 2010, who were younger than age 50 years at diagnosis with breast cancer and were enrolled within 4 years of diagnosis, and 1669 breast cancer-free control sisters from the Sister Study." . _:2f2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "2SISTER The Two Sister Study USA Case-only study" . _:2f2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sisterstudy.niehs.nih.gov/English/2sis.htm"; rdfs:comment "The Two Sister Study is an offshoot of the Sister Study that focuses on young-onset breast cancer and is based on families." . _:2f2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22773825"; "Fertility drugs and young-onset breast cancer: results from the Two Sister Study."; "PMID:22773825", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22773825+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted the Two Sister Study, a sister-matched case-control study, by enrolling 1422 women between September 2008 and December 2010, who were younger than age 50 years at diagnosis with breast cancer and were enrolled within 4 years of diagnosis, and 1669 breast cancer-free control sisters from the Sister Study." . _:2f2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of young-onset breast cancer, conducted by the US National Institute of Environmental Health Sciences as an offshoot of the Sister Study, that in 2008–2010 enrolled women diagnosed with breast cancer before age 50 who had a sister in the Sister Study, together with their parents, and used the breast cancer-free Sister Study sisters as matched controls, to study genetic and environmental causes of young-onset breast cancer. The affected women are followed prospectively as breast cancer survivors."; "PMID:22773825", "https://sisterstudy.niehs.nih.gov/English/2sis.htm"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1422; "young-onset breast cancer cases enrolled 2008-2010 and their breast cancer-free control sisters from the Sister Study"; "PMID:22773825"; rdfs:comment "We conducted the Two Sister Study, a sister-matched case-control study, by enrolling 1422 women between September 2008 and December 2010, who were younger than age 50 years at diagnosis with breast cancer and were enrolled within 4 years of diagnosis, and 1669 breast cancer-free control sisters from the Sister Study." . _:2f302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1669; "young-onset breast cancer cases enrolled 2008-2010 and their breast cancer-free control sisters from the Sister Study"; "PMID:22773825"; rdfs:comment "We conducted the Two Sister Study, a sister-matched case-control study, by enrolling 1422 women between September 2008 and December 2010, who were younger than age 50 years at diagnosis with breast cancer and were enrolled within 4 years of diagnosis, and 1669 breast cancer-free control sisters from the Sister Study." . _:2f312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "2SISTER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13157; , ; "PMID:38665804"; "A longitudinal cohort of the Boston Center for Endometriosis (Boston Children's Hospital and Brigham and Women's Hospital, Boston) that in 2012–2018 enrolled adolescent and adult females aged 7–55 with surgically diagnosed endometriosis at the two hospitals, together with participants without endometriosis from their clinics and the local community, collected blood and urine samples at enrolment, and follows participants with annual questionnaires, compliant since 2014 with the World Endometriosis Research Foundation's EPHect standards."; 787; 762; 1549; "A2A", "The Women's Health Study: From Adolescence to Adulthood", "The Women's Health Study: from Adolescence to Adulthood"; rdfs:label "Women's Health Study: From Adolescence to Adulthood"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13157 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13157; "endometriosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7444809/fullTextXML"; rdfs:comment "Reproductive-aged women with laparoscopically-confirmed endometriosis (n = 282) and controls (n = 293) who participated in The Women’s Health Study: From Adolescence to Adulthood (A2A), a cohort of adolescents and young women enrolled from 2012–2018, were included in this cross-sectional analysis." . _:2f332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7444809/fullTextXML"; rdfs:comment "Our study consisted primarily of a white population and was based in a specific region of the United States, which may limit the generalizability of our study results." . _:2f342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38665804"; "Plasma microRNA expression in adolescents and young adults with endometriosis: the importance of hormone use."; "PMID:38665804", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38665804+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Women's Health Study: from Adolescence to Adulthood (A2A) is an ongoing WERF EPHect compliant longitudinal cohort." . _:2f352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of the Boston Center for Endometriosis (Boston Children's Hospital and Brigham and Women's Hospital, Boston) that in 2012–2018 enrolled adolescent and adult females aged 7–55 with surgically diagnosed endometriosis at the two hospitals, together with participants without endometriosis from their clinics and the local community, collected blood and urine samples at enrolment, and follows participants with annual questionnaires, compliant since 2014 with the World Endometriosis Research Foundation's EPHect standards."; "PMID:32833998", "PMID:38495219", "PMID:38665804"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 787; "participants enrolled Nov 2012-Jun 2018 (endometriosis cases and controls), 2012-2018"; "PMID:38665804"; rdfs:comment "The Women's Health Study: From Adolescence to Adulthood (A2A) is a longitudinal observational cohort study that enrolled 1,549 participants [n = 787 surgically confirmed women with endometriosis (cases) and n = 762 controls] from November 2012–June 2018, enrolling 85% of those who were eligible to participate in the study." . _:2f372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 762; "participants enrolled Nov 2012-Jun 2018 (endometriosis cases and controls), 2012-2018"; "PMID:38665804"; rdfs:comment "The Women's Health Study: From Adolescence to Adulthood (A2A) is a longitudinal observational cohort study that enrolled 1,549 participants [n = 787 surgically confirmed women with endometriosis (cases) and n = 762 controls] from November 2012–June 2018, enrolling 85% of those who were eligible to participate in the study." . _:2f382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1549; "participants enrolled Nov 2012-Jun 2018 (endometriosis cases and controls), 2012-2018"; "PMID:38665804"; rdfs:comment "The Women's Health Study: From Adolescence to Adulthood (A2A) is a longitudinal observational cohort study that enrolled 1,549 participants [n = 787 surgically confirmed women with endometriosis (cases) and n = 762 controls] from November 2012–June 2018, enrolling 85% of those who were eligible to participate in the study." . _:2f392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A2A"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13166; , ; , , , , , , , , , , , ; "PMID:38741014"; "A consortium for genetic studies of breast cancer in women of African ancestry that pools whole-genome sequencing data, new Multi-Ethnic Genotyping Array genotypes and existing genotype data on breast cancer cases and controls from more than 20 studies in the United States, Africa and Barbados, among them the samples of the AMBER, ROOT, AABC and GAME-ON OncoArray consortia, for genome-wide association analyses and polygenic risk prediction."; 18034; 22104; "AABCG", "African American Breast Cancer Genetic consortium", "African Ancestry Breast Cancer Genetic consortium", "African Ancestry Breast Cancer Genetics Consortium", "African-ancestry Breast Cancer Genetic Consortium", "African-ancestry Breast Cancer Genetic consortium"; rdfs:label "African Ancestry Breast Cancer Genetic Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13166 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13166; "breast cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC11284829"; rdfs:comment "In this study, we used genetic data from the AABCG, a consortium for a genetic study of breast cancer for females of African ancestry, including genetic data from over 20 studies conducted in the U.S. and Africa." . _:2f3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "After quality control, we included 660 cases and 1,496 controls of African ancestry from GBHS genotyping data." . _:2f3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The AMBER is a collaboration of four studies: the Women’s Circle of Health Study (WCHS), the Black Women’s Health Study (BWHS), the Carolina Breast Cancer Study (CBCS), and the Multiethnic Cohort Study (MEC) funded by the National Cancer Institute." . _:2f3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The BNCS is a population-based case-control study of incident breast and prostate cancer in the predominantly African population of Barbados, West Indies" . _:2f3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The WAABCS is a hospital-based case-control study originally started in Nigeria in 1998 and was expanded to Uganda and Cameroon in 2011 with the same questionnaires and protocol" . _:2f3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The GBHS is a population-based case-control study conducted in Accra and Kumasi, Ghana" . _:2f402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01736-4/MediaObjects/41588_2024_1736_MOESM1_ESM.pdf"; rdfs:comment "The NBCS is an ongoing case-control study of breast cancer in Ibadan, Nigeria" . _:2f412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC11284829"; rdfs:comment "In brief, we analyzed whole-genome sequenced and high-density genotyped data from 18,034 female cases with breast cancer and 22,104 female controls of African ancestry from 26 studies participating in the AABCG, with 85.3% of participants from the United States and 14.7% from the African continent and Barbados." . _:2f422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38741014"; "Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction."; "PMID:38741014", "https://europepmc.org/api/getPdf?pmcid=PMC11284829"; rdfs:comment "In this study, we used genetic data from the AABCG, a consortium for a genetic study of breast cancer for females of African ancestry, including genetic data from over 20 studies conducted in the U.S. and Africa." . _:2f432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium for genetic studies of breast cancer in women of African ancestry that pools whole-genome sequencing data, new Multi-Ethnic Genotyping Array genotypes and existing genotype data on breast cancer cases and controls from more than 20 studies in the United States, Africa and Barbados, among them the samples of the AMBER, ROOT, AABC and GAME-ON OncoArray consortia, for genome-wide association analyses and polygenic risk prediction."; "PMID:38741014", "PMID:41629673"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18034; "female cases and controls of African ancestry from 26 studies in the 2024 GWAS"; "https://europepmc.org/api/getPdf?pmcid=PMC11284829"; rdfs:comment "In brief, we analyzed whole-genome sequenced and high-density genotyped data from 18,034 female cases with breast cancer and 22,104 female controls of African ancestry from 26 studies participating in the AABCG, with 85.3% of participants from the United States and 14.7% from the African continent and Barbados." . _:2f452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22104; "female cases and controls of African ancestry from 26 studies in the 2024 GWAS"; "https://europepmc.org/api/getPdf?pmcid=PMC11284829"; rdfs:comment "In brief, we analyzed whole-genome sequenced and high-density genotyped data from 18,034 female cases with breast cancer and 22,104 female controls of African ancestry from 26 studies participating in the AABCG, with 85.3% of participants from the United States and 14.7% from the African continent and Barbados." . _:2f462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AABCG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13180; , ; ; "PMID:29273806"; "An Australian research consortium, supported by the National Health and Medical Research Council, that pooled genotyped physician-diagnosed asthma cases and controls of European ancestry from several Australian studies, among them studies of the Queensland Institute of Medical Research, the Lung Institute of Western Australia, the Busselton Health Study and the Tasmanian Longitudinal Health Study, into a genome-wide association study of asthma first reported in 2011. Its data have since been used in international meta-analyses of asthma and allergic disease."; 2669; 4528; 7197; "AAGC"; rdfs:label "Australian Asthma Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13180 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13180; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21907864+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We did a genome-wide association study (GWAS) in 2669 physician-diagnosed asthmatics and 4528 controls from Australia." . _:2f482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "Australian Asthma Genetics Consortium (AAGC) Australian Asthma Genetics Consortium AAGC European Australia Population-based and case-control studies" . _:2f492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM3_ESM.xlsx"; rdfs:comment "Australian Asthma Genetics Consortium (AAGC) Australian Asthma Genetics Consortium AAGC European Australia Population-based and case-control studies" . _:2f4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Australian research consortium, supported by the National Health and Medical Research Council, that pooled genotyped physician-diagnosed asthma cases and controls of European ancestry from several Australian studies, among them studies of the Queensland Institute of Medical Research, the Lung Institute of Western Australia, the Busselton Health Study and the Tasmanian Longitudinal Health Study, into a genome-wide association study of asthma first reported in 2011. Its data have since been used in international meta-analyses of asthma and allergic disease."; "PMID:21907864", "PMID:24388013", "PMID:29273806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2669; "individuals in the 2011 Australian asthma GWAS (cases and controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3517659/unicode"; rdfs:comment "The Australian GWAS included data from 7,197 individuals of whom 5,523 (77%) were genotyped with Illumina 610K (Illumina, San Diego, CA, USA) array 1,674 (23%) with Illumina 370K array as part of four genotyping projects that are summarised in the webappendix (pp 11): the AAGC (n=1,810), QIMR_610K (n=2,483), QIMR_370K (n=1,674) and Busselton (n=1,230) projects." . _:2f4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4528; "individuals in the 2011 Australian asthma GWAS (cases and controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3517659/unicode"; rdfs:comment "The Australian GWAS included data from 7,197 individuals of whom 5,523 (77%) were genotyped with Illumina 610K (Illumina, San Diego, CA, USA) array 1,674 (23%) with Illumina 370K array as part of four genotyping projects that are summarised in the webappendix (pp 11): the AAGC (n=1,810), QIMR_610K (n=2,483), QIMR_370K (n=1,674) and Busselton (n=1,230) projects." . _:2f4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7197; "individuals in the 2011 Australian asthma GWAS (cases and controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3517659/unicode"; rdfs:comment "The Australian GWAS included data from 7,197 individuals of whom 5,523 (77%) were genotyped with Illumina 610K (Illumina, San Diego, CA, USA) array 1,674 (23%) with Illumina 370K array as part of four genotyping projects that are summarised in the webappendix (pp 11): the AAGC (n=1,810), QIMR_610K (n=2,483), QIMR_370K (n=1,674) and Busselton (n=1,230) projects." . _:2f4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AAGC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13189; , ; ; "PMID:33623038"; "A hospital-based, retrospective case-control study of prostate cancer at Aarhus University Hospital, Denmark, whose cases are men treated for prostate adenocarcinoma at the hospital's Department of Urology in Skejby and whose controls are age-matched men treated for myocardial infarction or undergoing coronary angioplasty with no prostate cancer diagnosis in the Danish Cancer Register or the Danish Cause of Death Register. It is one of the studies of the PRACTICAL consortium and was genotyped in the consortium's prostate cancer OncoArray project."; 1140; 570; "Aarhus"; rdfs:label "Aarhus Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13189 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13189; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Patients treated for prostate adenocarcinoma at Department of Urology, Aarhus University Hospital, Skejby (Aarhus, Denmark)" . _:2f502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Patients treated for prostate adenocarcinoma at Department of Urology, Aarhus University Hospital, Skejby (Aarhus, Denmark)" . _:2f512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "Aarhus (n=1630) Aarhus Prostate Cancer Study Aarhus, Denmark Hospital- based, observational" . _:2f522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based, retrospective case-control study of prostate cancer at Aarhus University Hospital, Denmark, whose cases are men treated for prostate adenocarcinoma at the hospital's Department of Urology in Skejby and whose controls are age-matched men treated for myocardial infarction or undergoing coronary angioplasty with no prostate cancer diagnosis in the Danish Cancer Register or the Danish Cause of Death Register. It is one of the studies of the PRACTICAL consortium and was genotyped in the consortium's prostate cancer OncoArray project."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1140; "cases and controls contributed to the PRACTICAL OncoArray genotyping (analysed subset), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Aarhus Aarhus Prostate Cancer Study Aarhus Denmark Hospital-based, Retrospective, Observational Karina Dalsgaard Sorensen, Torben Falck Orntoft European 1140 570 1079 550" . _:2f542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 570; "cases and controls contributed to the PRACTICAL OncoArray genotyping (analysed subset), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Aarhus Aarhus Prostate Cancer Study Aarhus Denmark Hospital-based, Retrospective, Observational Karina Dalsgaard Sorensen, Torben Falck Orntoft European 1140 570 1079 550" . _:2f552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aarhus"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13197; ; , ; , ; "PMID:32424353"; "A hospital-based breast cancer case-control study run from the Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital (NKI-AVL) in Amsterdam, whose cases are women diagnosed with breast cancer before age 50 (operable invasive cancers diagnosed in 1970–1994 in four Dutch hospitals and, for the iCOGS and OncoArray genotyping, patients diagnosed in 1995–2011 at the NKI-AVL) and whose controls are women recruited through the Sanquin blood bank. A familial arm, ABCS-F, adds breast cancer patients without BRCA1/2 mutations from the NKI-AVL family cancer clinic, and the study contributes to the Breast Cancer Association Consortium."; 1325; 1429; "ABCS"; rdfs:label "Amsterdam Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13197 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13197; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9585761/supplementaryFiles"; rdfs:comment "Amsterdam Breast Cancer Study Netherlands Pre-iCOGS: All breast cancer patients (with operable, invasive mammacarcinoma) aged <50 years and diagnosed from 1970-1994 in four Dutch hospitals." . _:2f572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9585761/supplementaryFiles"; rdfs:comment "Amsterdam Breast Cancer Study Netherlands Pre-iCOGS: All breast cancer patients (with operable, invasive mammacarcinoma) aged <50 years and diagnosed from 1970-1994 in four Dutch hospitals." . _:2f582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The ABCS study was supported by the Dutch Cancer Society [grants NKI 2007-3839; 2009 4363]." . _:2f592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based breast cancer case-control study run from the Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital (NKI-AVL) in Amsterdam, whose cases are women diagnosed with breast cancer before age 50 (operable invasive cancers diagnosed in 1970–1994 in four Dutch hospitals and, for the iCOGS and OncoArray genotyping, patients diagnosed in 1995–2011 at the NKI-AVL) and whose controls are women recruited through the Sanquin blood bank. A familial arm, ABCS-F, adds breast cancer patients without BRCA1/2 mutations from the NKI-AVL family cancer clinic, and the study contributes to the Breast Cancer Association Consortium."; "PMID:20520800", "PMID:25855707", "PMID:32424353", "PMID:36271417"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1325; "cases and controls contributed to the BCAC COGS (iCOGS) genotyping (analysed subset), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204770/"; rdfs:comment "Amsterdam Breast Cancer Study (ABCS) Netherlands 1429 1325 420 153" . _:2f5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1429; "cases and controls contributed to the BCAC COGS (iCOGS) genotyping (analysed subset), 2014"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204770/"; rdfs:comment "Amsterdam Breast Cancer Study (ABCS) Netherlands 1429 1325 420 153" . _:2f5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13205; , ; ; "PMID:32424353"; "The familial arm of the Amsterdam Breast Cancer Study, whose cases are breast cancer patients of any age without a pathogenic BRCA1 or BRCA2 mutation who were counselled and tested from 1995 at the family cancer clinic of the Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital in Amsterdam, and whose controls are healthy women from the general population recruited through the blood bank. The Breast Cancer Association Consortium lists it as a study separate from the main ABCS."; 1769; 1968; "ABCS-F", "Amsterdam Breast Cancer Study - Familial"; rdfs:label "Amsterdam Breast Cancer Study – Familial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13205 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13205; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4948019/fullTextXML"; rdfs:comment "The samples included in this study were from two Dutch breast cancer case-control studies: RBCS and ABCS-F." . _:2f5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4948019/fullTextXML"; rdfs:comment "The samples included in this study were from two Dutch breast cancer case-control studies: RBCS and ABCS-F." . _:2f5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Breast cancer patients diagnosed before age 50 in 2003-2009 at the NKI-AVL; and (ABCS-F) All non-BRCA1/2 breast cancer cases from the family cancer clinic of the NKI-AVL tested in the period 1995-2009; all ages and diagnosed with breast cancer in 1965-2008." . _:2f602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "ABCS-F Amsterdam Breast Cancer Study – Familial" . _:2f612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The familial arm of the Amsterdam Breast Cancer Study, whose cases are breast cancer patients of any age without a pathogenic BRCA1 or BRCA2 mutation who were counselled and tested from 1995 at the family cancer clinic of the Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital in Amsterdam, and whose controls are healthy women from the general population recruited through the blood bank. The Breast Cancer Association Consortium lists it as a study separate from the main ABCS."; "PMID:25855707", "PMID:27424772", "PMID:32424353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1769; "cases and controls of the ABCS-F case-control study (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4948019/fullTextXML"; rdfs:comment "ABCS-F cases (N = 1,769) were selected from the linked databases of the Division of Diagnostic Oncology and the Tumor Registry of the Antoni van Leeuwenhoek hospital in Amsterdam32." . _:2f632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1968; "cases and controls of the ABCS-F case-control study (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4948019/fullTextXML"; rdfs:comment "ABCS-F cases (N = 1,769) were selected from the linked databases of the Division of Diagnostic Oncology and the Tumor Registry of the Antoni van Leeuwenhoek hospital in Amsterdam32." . _:2f642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCS-F"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13214; , ; , ; "PMID:32424353"; "A breast cancer biobank, headquartered at the Westmead Institute for Medical Research of the University of Sydney, that since 2005 has collected tumour tissue, blood and linked clinical and follow-up data from consenting patients with breast cancer at collection sites across Australia and provides them for research. It contributes breast cancer cases to the Breast Cancer Association Consortium."; 6225; "ABCTB"; rdfs:label "Australian Breast Cancer Tissue Bank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13214 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13214; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6597578/fullTextXML"; rdfs:comment "Fresh frozen tumors and matching blood samples were accessed from the Brisbane Breast Bank (BBB) at the University of Queensland Centre for Clinical Research (UQCCR) and from the Australian Breast Cancer Tissue Bank (ABCTB) based at the Westmead Institute for Medical Research." . _:2f662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25496151+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ABCTB collection sites where donors are identified, consent obtained, and specimens collected and processed for initial storage are located across Australia." . _:2f672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The Australian Breast Cancer Tissue Bank (ABCTB) was supported by the National Health and Medical Research Council of Australia, The Cancer Institute NSW and the National Breast Cancer Foundation." . _:2f682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer biobank, headquartered at the Westmead Institute for Medical Research of the University of Sydney, that since 2005 has collected tumour tissue, blood and linked clinical and follow-up data from consenting patients with breast cancer at collection sites across Australia and provides them for research. It contributes breast cancer cases to the Breast Cancer Association Consortium."; "PMID:25496151", "PMID:25855707", "PMID:30554720", "PMID:31263747"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6225; "breast cancer donors in the biobank as at 15 May 2014"; "https://openbioresources.metajnl.com/articles/10.5334/ojb.aa"; rdfs:comment "Size of the bioresource 6,225 donors as at 15 May 2014 On-going recruitment of 500-600 new donors per annum" . _:2f6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABCTB"; . a owl:NamedIndividual, ; , ; "PMID:40691366"; "A population-based sample of anonymous Danish blood donors used as population controls in genetic studies, contributed under the abbreviation DKctrl, with self-reported anthropometry, to the GIANT consortium's genome-wide meta-analyses of height and body mass index. The study its contributors cite for it recruited its healthy controls among blood donors of the Danish Blood Donor Corps in the Copenhagen area."; 1006; "3D", "3D Population Controls", "ABDC", "Anonymous Blood Donor Cohort (3D Population Controls)", "Anonymous blood donor cohort", "DKctrl"; rdfs:label "Anonymous Blood Donor Cohort"@en . _:2f6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1964806/fullTextXML"; rdfs:comment "The healthy controls subjects were recruited among 15,000 blood-donors from the Danish Blood Donor Corps in the Copenhagen area." . _:2f6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "DKctrl / 3D Anonymous Blood Donor Cohort (3D Population Controls)" . _:2f6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based sample of anonymous Danish blood donors used as population controls in genetic studies, contributed under the abbreviation DKctrl, with self-reported anthropometry, to the GIANT consortium's genome-wide meta-analyses of height and body mass index. The study its contributors cite for it recruited its healthy controls among blood donors of the Danish Blood Donor Corps in the Copenhagen area."; "PMID:17849003", "PMID:36224396", "PMID:40691366"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1006; "Danish blood-donor control subjects in the 2007 study cited for the cohort (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1964806/fullTextXML"; rdfs:comment "Eighteen known SNPs within or near brain-expressed miRNAs in three samples (Danish, Swedish and Norwegian: 420/163/257 schizophrenia patients and 1006/177/293 control subjects), were analyzed." . _:2f6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3D"; . _:2f702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABDC"; . _:2f712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKctrl"; . a owl:NamedIndividual, ; , ; "PMID:20485516"; "A population-based sample of unrelated adults from Adelaide, Australia, with measured central corneal thickness, whose members in the thinnest and thickest fifths of the distribution had equal volumes of whole blood pooled before DNA extraction and genotyped as case and control pools in a genome-wide association study of central corneal thickness."; 106; 105; 530; "ABP", "Adelaide Blood pool", "Adelaide population-based cohort in Blood pooling design"; rdfs:label "Adelaide Blood Pools"@en . _:2f722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2869325/fullTextXML"; rdfs:comment "The second cohort, based on a blood pooling design [26] was collected from Adelaide, Australia." . _:2f732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20485516"; "Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness."; "PMID:20485516", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2869325/fullTextXML"; rdfs:comment "The four cohorts in comparison are the combined Australian twin cohorts (AU), the UK twin cohort (UK), the Blue Mountains population-based cohort in DNA pooling design (DNA), and the Adelaide population-based cohort in Blood pooling design (BLOOD)." . _:2f742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based sample of unrelated adults from Adelaide, Australia, with measured central corneal thickness, whose members in the thinnest and thickest fifths of the distribution had equal volumes of whole blood pooled before DNA extraction and genotyped as case and control pools in a genome-wide association study of central corneal thickness."; "PMID:20485516"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 106; "unrelated individuals in the Adelaide sample (pools drawn from its thinnest and thickest fifths), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2869325/fullTextXML"; rdfs:comment "This study consisted of 530 unrelated individuals in total, with 106 individuals in the thin CCT group (covers 20% lower tail of the underlying CCT distribution) and 105 individuals in the thick CCT group (covers 20% upper tail)." . _:2f762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 105; "unrelated individuals in the Adelaide sample (pools drawn from its thinnest and thickest fifths), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2869325/fullTextXML"; rdfs:comment "This study consisted of 530 unrelated individuals in total, with 106 individuals in the thin CCT group (covers 20% lower tail of the underlying CCT distribution) and 105 individuals in the thick CCT group (covers 20% upper tail)." . _:2f772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 530; "unrelated individuals in the Adelaide sample (pools drawn from its thinnest and thickest fifths), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2869325/fullTextXML"; rdfs:comment "This study consisted of 530 unrelated individuals in total, with 106 individuals in the thin CCT group (covers 20% lower tail of the underlying CCT distribution) and 105 individuals in the thick CCT group (covers 20% upper tail)." . _:2f782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ABP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13235; ; , , , , ; "PMID:37845353"; "A consortium of investigators in the United Kingdom, Australia and New Zealand formed to carry out a genome-wide association study of abdominal aortic aneurysm (AAA). Its GWAS dataset pools AAA cases with DNA from eight centres in those countries and from the UK Small Aneurysm Trial, recruited from inpatients, outpatient clinics and population screening programmes, and compares them with Wellcome Trust Case Control Consortium 2 controls from the 1958 British Birth Cohort and the UK National Blood Service."; 1866; 5435; "AC", "Abdominal Aortic Aneurysm Consortium", "Aneurysm Consortium AAA GWAS", "Aneurysm Consortium AAA GWAS dataset", "Aneurysm Consortium GWAS", "The Aneurysm Consortium"; rdfs:label "Aneurysm Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13235 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13235; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "Aneurysm Consortium (AC), cases of AAA together with available DNA recruited in eight centers in the UK, Australia, and New Zealand and also samples from the United Kingdom Small Aneurysm Trial from inpatient populations, outpatient clinics, or population screening programs in the participating centers." . _:2f7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "Aneurysm Consortium (AC), cases of AAA together with available DNA recruited in eight centers in the UK, Australia, and New Zealand and also samples from the United Kingdom Small Aneurysm Trial from inpatient populations, outpatient clinics, or population screening programs in the participating centers." . _:2f7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/supplementaryFiles"; rdfs:comment "Aneurysm Consortium (AC), cases of AAA together with available DNA recruited in eight centers in the UK, Australia, and New Zealand and also samples from the United Kingdom Small Aneurysm Trial from inpatient populations, outpatient clinics, or population screening programs in the participating centers." . _:2f7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37845353"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10632148/fullTextXML"; rdfs:comment "These two sets of weights were then used to calculate PRS in three external validation cohorts, two with control groups representative of the general population (UK Aneurysm Growth Study-UK Biobank (UKAGS-UKB) and Aneurysm Consortium-Wellcome Trust Case Control Consortium (AC-WTCCC)) and one representative of populations with cardiovascular disease (Second manifestations of ARTerial disease (SMART))." . _:2f7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of investigators in the United Kingdom, Australia and New Zealand formed to carry out a genome-wide association study of abdominal aortic aneurysm (AAA). Its GWAS dataset pools AAA cases with DNA from eight centres in those countries and from the UK Small Aneurysm Trial, recruited from inpatients, outpatient clinics and population screening programmes, and compares them with Wellcome Trust Case Control Consortium 2 controls from the 1958 British Birth Cohort and the UK National Blood Service."; "PMID:18621558", "PMID:22055160", "PMID:37845353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1866; "AAA cases and WTCCC2 controls in the consortium's 2011 GWAS discovery study"; "https://europepmc.org/api/getPdf?pmcid=PMC3213391"; rdfs:comment "A genome-wide discovery study was performed by comparing data from 1866 cases with AAA and 5435 unscreened controls from the WTCCC2 study consisting of samples from the 1958 British Birth Cohort and from the UK National Blood Service." . _:2f7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5435; "AAA cases and WTCCC2 controls in the consortium's 2011 GWAS discovery study"; "https://europepmc.org/api/getPdf?pmcid=PMC3213391"; rdfs:comment "A genome-wide discovery study was performed by comparing data from 1866 cases with AAA and 5435 unscreened controls from the WTCCC2 study consisting of samples from the 1958 British Birth Cohort and from the UK National Blood Service." . _:2f802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13244; , ; "PMID:19404257"; "A case-control collection for genome-wide studies of autism spectrum disorders assembled at the Center for Applied Genomics of the Children's Hospital of Philadelphia, combining people with autism spectrum disorders from several US sites, diagnosed with the Autism Diagnostic Interview and Autism Diagnostic Observation Schedule and from simplex and multiplex families (with some of their parents and siblings), with control subjects without autism spectrum disorders from the Children's Hospital of Philadelphia."; 1453; 7070; "ACC", "ACC cohort", "Autism Case Control", "Autism CaseControl cohort"; rdfs:label "Autism Case-Control cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13244 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13244; "autism spectrum disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2943511/"; rdfs:comment "To boost power for identifying these associations, we examined an Autism Case-Control cohort (ACC cohort, Table 1), comprising 1,453 subjects with ASDs from several US sites, and 7,070 control subjects without ASDs from the Children's Hospital of Philadelphia, who were also genotyped on the same platform." . _:2f822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2943511/"; rdfs:comment "To boost power for identifying these associations, we examined an Autism Case-Control cohort (ACC cohort, Table 1), comprising 1,453 subjects with ASDs from several US sites, and 7,070 control subjects without ASDs from the Children's Hospital of Philadelphia, who were also genotyped on the same platform." . _:2f832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19404257"; "Autism genome-wide copy number variation reveals ubiquitin and neuronal genes."; "PMID:19404257", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2925224/"; rdfs:comment "We assembled an Autism Case-Control (ACC) cohort by collecting 859 ASD cases (from a total of 1,246 ACC cases, parents, and siblings) of European ancestry, and 1,409 healthy controls." . _:2f842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection for genome-wide studies of autism spectrum disorders assembled at the Center for Applied Genomics of the Children's Hospital of Philadelphia, combining people with autism spectrum disorders from several US sites, diagnosed with the Autism Diagnostic Interview and Autism Diagnostic Observation Schedule and from simplex and multiplex families (with some of their parents and siblings), with control subjects without autism spectrum disorders from the Children's Hospital of Philadelphia."; "PMID:19404256", "PMID:19404257"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1453; "subjects with ASDs and controls in the ACC cohort as genotyped for the 2009 GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2943511/unicode"; rdfs:comment "To boost power for identifying these associations, we examined an Autism Case-Control cohort (ACC cohort, Table 1), comprising 1,453 subjects with ASDs from several US sites, and 7,070 control subjects without ASDs from the Children's Hospital of Philadelphia, who were also genotyped on the same platform." . _:2f862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7070; "subjects with ASDs and controls in the ACC cohort as genotyped for the 2009 GWAS"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2943511/unicode"; rdfs:comment "To boost power for identifying these associations, we examined an Autism Case-Control cohort (ACC cohort, Table 1), comprising 1,453 subjects with ASDs from several US sites, and 7,070 control subjects without ASDs from the Children's Hospital of Philadelphia, who were also genotyped on the same platform." . _:2f872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13252, _:genid-371333f489424440b12a13b9d98ced822608-genid13254; , , ; "PMID:30262460"; "A randomised, multicentre, double 2×2 factorial trial cohort of middle-aged and older adults with type 2 diabetes at high risk of cardiovascular events because of existing cardiovascular disease or additional risk factors, recruited in 2001–2005 through seven clinical networks in the United States and Canada with funding from the US National Heart, Lung, and Blood Institute. All participants were randomised to intensive or standard glycaemic control and, in two sub-trials, to intensive or standard blood-pressure control or to fenofibrate or placebo added to simvastatin, to test whether these strategies reduce major cardiovascular events."; 10251; "ACCORD"; rdfs:label "Action to Control Cardiovascular Risk in Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13252 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13254 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13252; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17599422+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial is a randomized, multicenter, double 2 x 2 factorial design study involving 10,251 middle-aged and older participants with type 2 diabetes who are at high risk for CVD events because of existing CVD or additional risk factors." . _:2f892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13254; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17599422+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial is a randomized, multicenter, double 2 x 2 factorial design study involving 10,251 middle-aged and older participants with type 2 diabetes who are at high risk for CVD events because of existing CVD or additional risk factors." . _:2f8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6196830/fullTextXML"; rdfs:comment "A total of 10,251 participants with type 2 diabetes were recruited from seven clinical networks in the U.S. and Canada between 2001 and 2005 and randomized in a 1:1 ratio to receive intensive glucose-lowering treatment, aiming for an HbA1c level below 6%, or to standard treatment, aiming for an HbA1c level between 7.0% and 7.9%." . _:2f8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30262460"; "Genetic Tools for Coronary Risk Assessment in Type 2 Diabetes: A Cohort Study From the ACCORD Clinical Trial."; "PMID:30262460", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6196830/fullTextXML"; rdfs:comment "We also evaluated the extent to which these genetic markers improve the prediction of incident MCE when added to conventional cardiovascular risk factors and assessed whether a genetic risk score (GRS) derived from these SNPs could identify subsets of patients with type 2 diabetes with different responses to intensive glucose, blood pressure, and lipid control in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial." . _:2f8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, multicentre, double 2×2 factorial trial cohort of middle-aged and older adults with type 2 diabetes at high risk of cardiovascular events because of existing cardiovascular disease or additional risk factors, recruited in 2001–2005 through seven clinical networks in the United States and Canada with funding from the US National Heart, Lung, and Blood Institute. All participants were randomised to intensive or standard glycaemic control and, in two sub-trials, to intensive or standard blood-pressure control or to fenofibrate or placebo added to simvastatin, to test whether these strategies reduce major cardiovascular events."; "PMID:17599422", "PMID:30262460"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10251; "participants with type 2 diabetes randomised 2001-2005"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6196830/fullTextXML"; rdfs:comment "A total of 10,251 participants with type 2 diabetes were recruited from seven clinical networks in the U.S. and Canada between 2001 and 2005 and randomized in a 1:1 ratio to receive intensive glucose-lowering treatment, aiming for an HbA1c level below 6%, or to standard treatment, aiming for an HbA1c level between 7.0% and 7.9%." . _:2f8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACCORD"; . a owl:NamedIndividual, ; , ; "PMID:16256881"; "A population of adults in East Anglia and Wales, United Kingdom, selected at random from local general practice lists and open-access cardiovascular risk assessment clinics and studied by investigators in Cambridge and Cardiff, comprising healthy people as well as people with cardiovascular risk factors or disease, whose peripheral and central blood pressure, wave reflection and aortic pulse wave velocity were measured, with questionnaires and blood samples, to study vascular ageing, arterial stiffness and central blood pressure across the adult lifespan."; 12000; "ACCT", "Anglo Cardiff Collaborative Trial"; rdfs:label "Anglo-Cardiff Collaborative Trial"@en . _:2f8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12553408/fullTextXML"; rdfs:comment "Subjects were drawn from the ACCT (Anglo‐Cardiff Collaborative Trial) population, which consists of >12 000 individuals, selected at random from local general practice lists and open‐access Cardiovascular Risk Assessment Clinics across East Anglia and Wales." . _:2f902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16256881"; "Normal vascular aging: differential effects on wave reflection and aortic pulse wave velocity: the Anglo-Cardiff Collaborative Trial (ACCT)."; "PMID:16256881", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16256881+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Normal vascular aging: differential effects on wave reflection and aortic pulse wave velocity: the Anglo-Cardiff Collaborative Trial (ACCT)." . _:2f912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population of adults in East Anglia and Wales, United Kingdom, selected at random from local general practice lists and open-access cardiovascular risk assessment clinics and studied by investigators in Cambridge and Cardiff, comprising healthy people as well as people with cardiovascular risk factors or disease, whose peripheral and central blood pressure, wave reflection and aortic pulse wave velocity were measured, with questionnaires and blood samples, to study vascular ageing, arterial stiffness and central blood pressure across the adult lifespan."; "PMID:16256881", "PMID:18426997", "PMID:28247509", "PMID:40879028"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12000; "more than 12,000 individuals in the ACCT population (a lower bound), 2025"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12553408/fullTextXML"; rdfs:comment "Subjects were drawn from the ACCT (Anglo‐Cardiff Collaborative Trial) population, which consists of >12 000 individuals, selected at random from local general practice lists and open‐access Cardiovascular Risk Assessment Clinics across East Anglia and Wales." . _:2f932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACCT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13266, _:genid-371333f489424440b12a13b9d98ced822608-genid13268; , , ; "PMID:33310085"; "A genome-wide association study of alcohol-related cirrhosis in people of European descent that meta-analysed two case–control data sets, one from Germany and one from the United Kingdom, comparing patients with alcohol-related cirrhosis with drinking controls to find genetic risk loci for the disease; its discovery results were published in 2015 and its summary statistics have been reused by later studies of cirrhosis."; 712; 1466; "ACG"; rdfs:label "Alcoholic Cirrhosis GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13266 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13268 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2f942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13266; "alcohol misuse", "heavy drinking"; "https://www.nature.com/articles/ng.3417"; rdfs:comment "Figure 2: Forest plots of odds ratios and 95% confidence intervals for the susceptibility loci for alcohol-related cirrhosis in comparison to alcohol misusers and population controls." . _:2f952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13268; "alcohol-related cirrhosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26482880+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independent European cohorts (1,148 cases and 922 controls)." . _:2f962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3417/MediaObjects/41588_2015_BFng3417_MOESM1_ESM.pdf"; rdfs:comment "Quantile-quantile plot of the primary meta-analysis of the German and UK data sets." . _:2f972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33310085"; "Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study."; "PMID:33310085", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8035329/unicode"; rdfs:comment "Individuals with cirrhosis were identified in two prospective cohorts (UK Biobank and Atherosclerosis Risk in Communities study), a medical center-based cohort (Vanderbilt BioVU) and two case-control studies from previously published genome wide association studies of alcohol-related cirrhosis." . _:2f982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of alcohol-related cirrhosis in people of European descent that meta-analysed two case–control data sets, one from Germany and one from the United Kingdom, comparing patients with alcohol-related cirrhosis with drinking controls to find genetic risk loci for the disease; its discovery results were published in 2015 and its summary statistics have been reused by later studies of cirrhosis."; "PMID:26482880", "PMID:33310085", "PMID:38727677", "http://gengastro.med.tu-dresden.de/suppl/alc_cirrhosis/", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3417/MediaObjects/41588_2015_BFng3417_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 712; "cases and drinking controls in the 2015 German+UK discovery meta-analysis"; "http://gengastro.med.tu-dresden.de/suppl/alc_cirrhosis/"; rdfs:comment "Genome-wide association meta-analysis of 712 cases with alcohol-related cirrhosis and 1,466 controls." . _:2f9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1466; "cases and drinking controls in the 2015 German+UK discovery meta-analysis"; "http://gengastro.med.tu-dresden.de/suppl/alc_cirrhosis/"; rdfs:comment "Genome-wide association meta-analysis of 712 cases with alcohol-related cirrhosis and 1,466 controls." . _:2f9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACG"; . a owl:NamedIndividual, ; , ; ; "PMID:36522743"; "A longitudinal cohort of healthy community-dwelling volunteers in middle and old age, recruited in Greater Manchester and Newcastle upon Tyne, England, between 1983 and the early 1990s by the University of Manchester's Age and Cognitive Performance Research Centre to chart trajectories of cognitive function in normal old age; participants took alternating batteries of cognitive tests every two years until 2003, with questionnaires on health and behaviour repeated until 2017. Blood was collected for DNA extraction, a Manchester subsample was physically examined and gave saliva, serum and plasma in 2003, and some participants donated their brains to the Manchester Brain Bank."; 6375; "ACPRC", "Age and Cognitive Performance Research Cohort", "Manchester Longitudinal Cognitive Ageing Cohort", "Manchester and Newcastle Age and Cognitive Performance Research Cohort", "Manchester and Newcastle Longitudinal Studies of Cognitive Ageing", "Manchester and Newcastle Longitudinal Studies of Cognitive Aging", "UMLCHA", "University of Manchester Age and Cognitive Performance Research Cohort"; rdfs:label "University of Manchester Longitudinal Study of Cognition in Normal Healthy Old Age"@en . _:2f9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3182557/fullTextXML"; rdfs:comment "Recruitment took place in Newcastle and Greater Manchester between 1983 and 1992." . _:2f9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36522743"; "Amyloid-β and APOE genotype predict memory decline in cognitively unimpaired older individuals independently of Alzheimer's disease polygenic risk score."; "PMID:36522743", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9753236/fullTextXML"; rdfs:comment "[28] The PreclinAD study recruited participants from two sites: the Manchester and Newcastle Age and Cognitive Performance Research Cohort (ACPRC) in Manchester [29] and the Netherlands Twin Register (NTR) [30] in Amsterdam." . _:2f9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of healthy community-dwelling volunteers in middle and old age, recruited in Greater Manchester and Newcastle upon Tyne, England, between 1983 and the early 1990s by the University of Manchester's Age and Cognitive Performance Research Centre to chart trajectories of cognitive function in normal old age; participants took alternating batteries of cognitive tests every two years until 2003, with questionnaires on health and behaviour repeated until 2017. Blood was collected for DNA extraction, a Manchester subsample was physically examined and gave saliva, serum and plasma in 2003, and some participants donated their brains to the Manchester Brain Bank."; "PMID:21826061", "PMID:30075734", "PMID:31796669", "PMID:34113784", "PMID:40908294"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2f9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6375; "individuals aged 42-94 recruited in Newcastle and Manchester 1983-1993"; "PMID:40908294"; rdfs:comment "The University of Manchester Longitudinal Study of Cognition in Normal Healthy Old Age (UMLCHA) recruited 6375 individuals aged 42–94 years old from Newcastle and Manchester, UK, starting in 1983 through 199324." . _:2fa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACPRC"; . _:2fa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMLCHA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13282; , ; "PMID:32066700"; "A longitudinal naturalistic cohort of outpatients with bipolar disorder, launched in 2005 by the Karolinska Institutet and the St. Göran bipolar outpatient clinic (the Affective Center) of Northern Stockholm Psychiatry in Stockholm, Sweden, with a second centre in Gothenburg from 2009, which consecutively enrols patients treated at these clinics, with age- and sex-matched population controls randomly selected by Statistics Sweden. It combines clinical ratings, cognitive testing, blood and cerebrospinal fluid sampling, brain imaging and genetics, with follow-up planned at 7 and 14 years, to identify predictors of long-term outcome in bipolar disorder."; "ACSGH", "SBP", "SGBP", "St G_ran Bipolar Project", "St. Göran Project"; rdfs:label "St. Göran Bipolar Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13282 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13282; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39746340+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The St. Göran Bipolar Project (SBP) is a longitudinal outpatient study investigation aimed at identifying predictive factors associated with long-term outcomes in individuals with bipolar disorder." . _:2fa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11965871/fullTextXML"; rdfs:comment "SBP is a collaborative effort between academia and healthcare, enrolling study participants from bipolar outpatient clinics in Stockholm (SBP-S) and Gothenburg (SBP-G), Sweden." . _:2fa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32066700"; "Genome-wide study of immune biomarkers in cerebrospinal fluid and serum from patients with bipolar disorder and controls."; "PMID:32066700", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7026056/fullTextXML"; rdfs:comment "Subjects were recruited from a long-term naturalistic study of bipolar disorder, the St. Göran Bipolar Project, at the bipolar outpatient unit at the Northern Stockholm psychiatric clinic in Stockholm, Sweden." . _:2fa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal naturalistic cohort of outpatients with bipolar disorder, launched in 2005 by the Karolinska Institutet and the St. Göran bipolar outpatient clinic (the Affective Center) of Northern Stockholm Psychiatry in Stockholm, Sweden, with a second centre in Gothenburg from 2009, which consecutively enrols patients treated at these clinics, with age- and sex-matched population controls randomly selected by Statistics Sweden. It combines clinical ratings, cognitive testing, blood and cerebrospinal fluid sampling, brain imaging and genetics, with follow-up planned at 7 and 14 years, to identify predictors of long-term outcome in bipolar disorder."; "PMID:28072414", "PMID:28468681", "PMID:39746340"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACSGH"; . _:2fa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBP"; . _:2fa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGBP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13290; , ; "PMID:35383826"; "A case–control cohort of people with sporadic early- or late-onset Alzheimer's disease and elderly controls screened for dementia, recruited from community and hospital settings in the United Kingdom between the early 2000s and 2020 with funding from the Medical Research Council, the Moondance Foundation and Health and Care Research Wales, and assessed with a standardised clinical and neuropsychological protocol. Its longitudinal clinical and cognitive data and blood samples support genome-wide genotyping, plasma biomarker and induced pluripotent stem cell studies of Alzheimer's disease."; 1439; 508; 1947; "AD Cardiff Cohort", "ADCC"; rdfs:label "Alzheimer's Disease Cardiff Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13290 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13290; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10362776/fullTextXML"; rdfs:comment "Sporadic AD and control plasma samples [n = 504 control, 912 EOAD (onset < 65 years), 492 LOAD (onset > 65 years)] were a subset of the AD Cardiff Cohort, collected between 2004 and 2020 from individuals recruited from UK community and hospital settings using MRC, Moondance Foundation, and Health and Care Research Wales (HCRW) funding (Table 1)." . _:2faa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10362776/fullTextXML"; rdfs:comment "were a subset of the AD Cardiff Cohort, collected between 2004 and 2020 from individuals recruited from UK community and hospital settings using MRC, Moondance Foundation, and Health and Care Research Wales (HCRW) funding" . _:2fab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35383826"; "Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease."; "PMID:35383826", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9924904/fullTextXML"; rdfs:comment "The Alzheimer’s Disease Cardiff Cohort (ADCC) was collected between 2004 and 2020 using MRC, Moondance Foundation and Health and Care Research Wales (HCRW) funding." . _:2fac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control cohort of people with sporadic early- or late-onset Alzheimer's disease and elderly controls screened for dementia, recruited from community and hospital settings in the United Kingdom between the early 2000s and 2020 with funding from the Medical Research Council, the Moondance Foundation and Health and Care Research Wales, and assessed with a standardised clinical and neuropsychological protocol. Its longitudinal clinical and cognitive data and blood samples support genome-wide genotyping, plasma biomarker and induced pluripotent stem cell studies of Alzheimer's disease."; "PMID:35383826", "PMID:37480051", "PMID:40614728"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1439; "analysed subset: AD cases and screened controls with plasma samples and genotypes (2020)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9924904/"; rdfs:comment "We used plasma samples collected from 1439 early and late onset sporadic AD cases and 508 screened elderly controls. Information on age at assessment, sex, APOE genotype and genome-wide array genotyping was available for all 1947 samples." . _:2fae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 508; "analysed subset: AD cases and screened controls with plasma samples and genotypes (2020)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9924904/"; rdfs:comment "We used plasma samples collected from 1439 early and late onset sporadic AD cases and 508 screened elderly controls. Information on age at assessment, sex, APOE genotype and genome-wide array genotyping was available for all 1947 samples." . _:2faf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1947; "analysed subset: AD cases and screened controls with plasma samples and genotypes (2020)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9924904/"; rdfs:comment "We used plasma samples collected from 1439 early and late onset sporadic AD cases and 508 screened elderly controls. Information on age at assessment, sex, APOE genotype and genome-wide array genotyping was available for all 1947 samples." . _:2fb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13299, _:genid-371333f489424440b12a13b9d98ced822608-genid13301; , ; "PMID:23001564"; "A single-centre cohort study at Nancy University Hospital, France, of older treated hypertensive patients with subjective memory complaints, recruited in the early 2000s through local press advertisements and general practitioners of the Inserm clinical investigation centre network, who had cognitive testing, brain MRI for white matter hyperintensities, measurements of arterial stiffness, carotid structure and endothelial function, and DNA and serum banking, and were re-examined about eight years later (ADELAHYDE-2), to identify genetic, environmental and vascular determinants of leukoaraiosis and cognitive decline."; 376; "ADELAHYDE", "ADELAHYDE study", "ADELAHYDE-Nancy study", "Analyse des DEterminants génétiques et environnementaux de la Leucoaraïose dans une population à sujets Agés HYpertendus présentant des troubles cognitifs DEbutants"; rdfs:label "Analyse des DEterminants génétiques et environnementaux de la Leucoaraiose dans une population de sujets Agés Hypertendus présentant des troubles cognitifs DEbutants"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13301 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13299; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7175941/fullTextXML"; rdfs:comment "Inclusion criteria for ADELAHYDE were age 60–85 years with arterial hypertension (>1 year from diagnosis, receiving antihypertensive treatment for at least one month), presenting with low-grade subjective memory complaints (SMCs) defined as a McNair scale >15 (revised validated French version of 26 items)." . _:2fb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13301; "subjective memory complaints"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7175941/fullTextXML"; rdfs:comment "Inclusion criteria for ADELAHYDE were age 60–85 years with arterial hypertension (>1 year from diagnosis, receiving antihypertensive treatment for at least one month), presenting with low-grade subjective memory complaints (SMCs) defined as a McNair scale >15 (revised validated French version of 26 items)." . _:2fb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4197385/fullTextXML"; rdfs:comment "Patients were recruited between 2003 and 2005 by local press advertisements or referred by general practitioners from an investigator network of the Inserm Clinical Investigation Center, France[19]." . _:2fb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23001564"; "Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans."; "PMID:23001564", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510758/fullTextXML"; rdfs:comment "Samples from the Jerusalem LRC Longitudinal Study (N = 620) (68), Health ABC study (N = 337) (69), from ADELAHYDE-Nancy study and ERA-France study (N = 316) (70,71) and from a Danish collection (N = 964) (47) were included in the replication stage." . _:2fb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre cohort study at Nancy University Hospital, France, of older treated hypertensive patients with subjective memory complaints, recruited in the early 2000s through local press advertisements and general practitioners of the Inserm clinical investigation centre network, who had cognitive testing, brain MRI for white matter hyperintensities, measurements of arterial stiffness, carotid structure and endothelial function, and DNA and serum banking, and were re-examined about eight years later (ADELAHYDE-2), to identify genetic, environmental and vascular determinants of leukoaraiosis and cognitive decline."; "PMID:19246701", "PMID:25332706", "PMID:29276677", "PMID:32039844", "https://clinicaltrials.gov/api/v2/studies/NCT01351961"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 376; "hypertensive patients included at visit 1 (ADELAHYDE-1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7175941/"; rdfs:comment "Of the 376 patients included in V1, 131 participated in V2 (among the rest, 51 patients died, 60 were lost to follow-up, 130 were not able to visit due to their functional status and/or refused to participate, and 6 patients provided no specific reason)." . _:2fb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADELAHYDE"; . a owl:NamedIndividual, ; , ; "PMID:23001564"; "A longitudinal study of the determinants of arterial ageing in French adults of a Paris cohort followed at the Centre d'Investigations Préventives et Cliniques, re-examined years apart with measurements of aortic stiffness and carotid atherosclerosis, and with leukocyte telomere length measured at successive examinations."; 483; "ERA", "ERA-France study"; rdfs:label "Evolution de la Rigidité Artérielle"@en . _:2fb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5903283/unicode"; rdfs:comment "Participants were from a Parisian cohort that had been followed at the Centre d’Investigations Préventives et Cliniques." . _:2fb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23001564"; "Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans."; "PMID:23001564", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3510758/fullTextXML"; rdfs:comment "Samples from the Jerusalem LRC Longitudinal Study (N = 620) (68), Health ABC study (N = 337) (69), from ADELAHYDE-Nancy study and ERA-France study (N = 316) (70,71) and from a Danish collection (N = 964) (47) were included in the replication stage." . _:2fba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of the determinants of arterial ageing in French adults of a Paris cohort followed at the Centre d'Investigations Préventives et Cliniques, re-examined years apart with measurements of aortic stiffness and carotid atherosclerosis, and with leukocyte telomere length measured at successive examinations."; "PMID:11889014", "PMID:28630210"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 483; "subjects with two health checkups (1992-1993 and 1998-1999) analysed"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11889014+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the present longitudinal study was to compare the progression of aortic stiffness over a 6-year period in treated hypertensive subjects and normotensive subjects, and to evaluate the determinants of this progression.Methods and resultsData for the present analysis were gathered from 483 subjects who had 2 health checkups at the Centre d'Investigations Préventives et Cliniques, the first one in 1992--1993 and the second one in 1998--1999." . _:2fbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ERA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13313; , ; ; "PMID:29531354"; "A case–control collection of the Psychiatric Genetics Unit of the Vall d'Hebron Research Institute (VHIR) in Barcelona, Spain, of adults of European origin with attention-deficit hyperactivity disorder, recruited and evaluated at the Hospital Universitari Vall d'Hebron, and of unrelated blood donors screened for lifetime ADHD symptoms, genotyped genome-wide to identify loci conferring susceptibility to persistent ADHD."; 603; 583; 1186; "ADHD", "ADHD-VHIR"; rdfs:label "ADHD-VHIR study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13313 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13313; "attention-deficit hyperactivity disorder"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnpp.2014.267/MediaObjects/41386_2015_BFnpp2014267_MOESM62_ESM.pdf"; rdfs:comment "All patients were adults of Caucasian origin, recruited and evaluated at the Hospital Universitari Vall d’Hebron located in Barcelona (Spain), and met Diagnostic and Statistical Manual for Mental Disorders-IV (DSM-IV) criteria for ADHD." . _:2fbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnpp.2014.267/MediaObjects/41386_2015_BFnpp2014267_MOESM62_ESM.pdf"; rdfs:comment "All patients were adults of Caucasian origin, recruited and evaluated at the Hospital Universitari Vall d’Hebron located in Barcelona (Spain), and met Diagnostic and Statistical Manual for Mental Disorders-IV (DSM-IV) criteria for ADHD." . _:2fbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29531354"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "The Vall d'Hebron Research Institute (VHIR) cohort included 435 blood donors of Caucasian origin recruited from 2004 to 2008 at the Hospital Universitari Vall d'Hebron (Barcelona, Spain) to identify loci conferring susceptibility to Attention-Deficit Hyperactivity Disorder." . _:2fc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control collection of the Psychiatric Genetics Unit of the Vall d'Hebron Research Institute (VHIR) in Barcelona, Spain, of adults of European origin with attention-deficit hyperactivity disorder, recruited and evaluated at the Hospital Universitari Vall d'Hebron, and of unrelated blood donors screened for lifetime ADHD symptoms, genotyped genome-wide to identify loci conferring susceptibility to persistent ADHD."; "PMID:25284319", "PMID:29531354"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 603; "adult ADHD cases and blood-donor controls genotyped in the GWAS discovery stage, after QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnpp.2014.267/MediaObjects/41386_2015_BFnpp2014267_MOESM62_ESM.pdf"; rdfs:comment "Spain Discovery Cohort N=1186 (603 cases, 583 controls)" . _:2fc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 583; "adult ADHD cases and blood-donor controls genotyped in the GWAS discovery stage, after QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnpp.2014.267/MediaObjects/41386_2015_BFnpp2014267_MOESM62_ESM.pdf"; rdfs:comment "Spain Discovery Cohort N=1186 (603 cases, 583 controls)" . _:2fc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1186; "adult ADHD cases and blood-donor controls genotyped in the GWAS discovery stage, after QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnpp.2014.267/MediaObjects/41386_2015_BFnpp2014267_MOESM62_ESM.pdf"; rdfs:comment "Spain Discovery Cohort N=1186 (603 cases, 583 controls)" . _:2fc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADHD"; . _:2fc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADHD-VHIR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13323; , , , , , , , , , , , , , , , , , , , , , , , , , , ; "PMID:26631737"; "A multinational randomised controlled trial with a 2×2 factorial design, conducted from 2001 by 215 collaborating centres in 20 countries in Asia, Australasia, Europe and North America among people with type 2 diabetes diagnosed at age 30 or older, aged 55 or older and with cardiovascular disease or at least one other cardiovascular risk factor, which compared a fixed combination of perindopril and indapamide with placebo, whatever the initial blood pressure, and an intensive gliclazide modified-release-based glucose control regimen targeting an HbA1c of 6.5% or less with standard glucose control, for their effects on major macrovascular and microvascular events; surviving participants were followed after the trial in ADVANCE-ON."; "The acronym ADVANCE also denotes ADVANCE trial (COHO:0001052) and Atherosclerotic Disease, Vascular Function, and Genetic Epidemiology Study (COHO:0001053); this term is Action in Diabetes and Vascular disease: Preterax and Diamicron-MR Controlled Evaluation."@en; 11140; "ADVANCE", "ADVANCE_TRIAL", "Action in Diabetes and Vascular Disease: PreterAx and DiamicroN Modified-Release Controlled Evaluation", "Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation", "Action in Diabetes and Vascular disease: preterAx and diamicroN mr Controlled Evaluation", "Action in Diabetes and Vascular disease; preterAx and diamicroN-MR Controlled Evaluation"; rdfs:label "Action in Diabetes and Vascular disease: Preterax and Diamicron-MR Controlled Evaluation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13323 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13323; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11596665+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study is a 2 x 2 factorial randomised controlled trial that will include 10000 adults with Type II diabetes at high risk of vascular disease." . _:2fc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7496988/fullTextXML"; rdfs:comment "As in previous analyses based on ADVANCE 15, 19, the primary comparison in the present study was between three groupings of countries based on geography and economic development: Asia, comprising China, India, Malaysia and the Philippines; Eastern Europe, comprising the Czech Republic, Estonia, Hungary, Lithuania, Poland, Russia and Slovakia; and 'established market economies', comprising Australia, Canada, France, Germany, Ireland, Italy, the Netherlands, New Zealand, and the UK." . _:2fc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26631737"; "Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes."; "PMID:26631737", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4764151/fullTextXML"; rdfs:comment "Our study was based on 30 discovery and replication studies mostly from the general population, with the exception of Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation (ADVANCE) and Genetics of Diabetic Nephropathy (GENDIAN), which enrolled exclusively individuals with type 2 diabetes, totaling 67,452 participants of European ancestry across the different analyses (up to 7,787 with diabetes in discovery and replication)." . _:2fc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational randomised controlled trial with a 2×2 factorial design, conducted from 2001 by 215 collaborating centres in 20 countries in Asia, Australasia, Europe and North America among people with type 2 diabetes diagnosed at age 30 or older, aged 55 or older and with cardiovascular disease or at least one other cardiovascular risk factor, which compared a fixed combination of perindopril and indapamide with placebo, whatever the initial blood pressure, and an intensive gliclazide modified-release-based glucose control regimen targeting an HbA1c of 6.5% or less with standard glucose control, for their effects on major macrovascular and microvascular events; surviving participants were followed after the trial in ADVANCE-ON."; "PMID:11596665", "PMID:16075030", "PMID:21972410", "PMID:31967344"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11140; "participants randomised (2003)"; "https://www.nature.com/articles/1001890"; rdfs:comment "Following successful recruitment and randomisation of 11 140 participants by March 2003, the study is currently half way through its planned follow-up of 4.5 years." . _:2fcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADVANCE"; . _:2fcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADVANCE_TRIAL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13331, _:genid-371333f489424440b12a13b9d98ced822608-genid13333; , ; "PMID:40691366"; "A biobank study at University Medical Center Utrecht and St. Antonius Hospital Nieuwegein, the Netherlands, set up in 2003 as a derivative of the Athero-Express, of patients undergoing open surgical repair of abdominal aortic and other arterial aneurysms, which stores aneurysm wall tissue collected during surgery together with blood, clinical data and three years of follow-up for cardiovascular events, to study aneurysm heterogeneity in relation to postoperative outcomes."; 503; "AEB", "Abdominal Aortic Aneurysm Express Biobank Study", "Aneurysm Express Biobank Study", "Aneurysm-Express Biobank Cohort", "Aneurysm-Express biobank", "Aneurysm-Express biobank study", "Aneurysm-Express study"; rdfs:label "Aneurysm-Express Biobank Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13331 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13331; "arterial aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4220929/fullTextXML"; rdfs:comment "The Aneurysm-Express study (which is a derivative of the previously mentioned Athero-Express study) is a longitudinal biobank study that includes aneurysm tissue from all patients undergoing open surgical abdominal aortic aneurysm (AAA) repair in two Dutch hospitals." . _:2fce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13333; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4220929/fullTextXML"; rdfs:comment "The Aneurysm-Express study (which is a derivative of the previously mentioned Athero-Express study) is a longitudinal biobank study that includes aneurysm tissue from all patients undergoing open surgical abdominal aortic aneurysm (AAA) repair in two Dutch hospitals." . _:2fcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4220929/fullTextXML"; rdfs:comment "The Aneurysm-Express study was approved by the institutional review boards of both participating hospitals (University Medical Center Utrecht, Utrecht, The Netherlands, and St. Antonius Hospital, Nieuwegein, The Netherlands) and patients gave written informed consent." . _:2fd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "Lastly, we would like to thank all participants of the Aneurysm-Express Biobank Study; without you these kinds of studies would not be possible." . _:2fd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank study at University Medical Center Utrecht and St. Antonius Hospital Nieuwegein, the Netherlands, set up in 2003 as a derivative of the Athero-Express, of patients undergoing open surgical repair of abdominal aortic and other arterial aneurysms, which stores aneurysm wall tissue collected during surgery together with blood, clinical data and three years of follow-up for cardiovascular events, to study aneurysm heterogeneity in relation to postoperative outcomes."; "PMID:20720431", "PMID:25372389", "PMID:31882626"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 503; "patients whose DNA was extracted for the Aneurysm-Express Genomics Study (inclusions 2003-2013)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6934821/"; rdfs:comment "DNA of 503 patients in Aneurysm-Express biobank study was extracted from whole blood EDTA or (when no blood was available) aneurysm tissue samples following standardized in-house validated protocols for the Aneurysm-Express Genomics Study (AAAGS)." . _:2fd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AEB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13340; , ; ; "PMID:40691366"; "A biobank and ongoing prospective registry of patients with atrial fibrillation from the arrhythmia clinic of the Department of Medicine I, University Hospital Munich, Ludwig-Maximilians-University, Germany, established within the Arrhythmia-Biobank-LMU with support from the German Federal Ministry of Education and Research, which collects blood samples and clinical data and follows patients for recurrence of atrial fibrillation after rhythm-control interventions such as catheter ablation."; 3573; "AFLMU", "AFLMU Biobank", "AFLMU study", "Atrial Fibrillation Biobank Ludwig Maximilian University Study"; rdfs:label "Atrial Fibrillation Biobank LMU"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13340 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13340; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7455124/fullTextXML"; rdfs:comment "Third, while the AFLMU data set is rather large for an AF ablation cohort with biomarkers, further studies in independent patient data sets, ideally assessing atrial PITX2 and plasma BMP10 concentrations in the same patients, are warranted to confirm our findings." . _:2fd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7080569/"; rdfs:comment "The AFLMU Biobank has been established at the Department of Medicine I at the University Hospital Munich of the Ludwig-Maximilians-University of Munich Germany with the support of the German Federal Ministry of Education and Research (BMBF)." . _:2fd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "Broad Bayer AFLMU (EUR) Atrial Fibrillation Biobank Ludwig Maximilian University Study" . _:2fd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank and ongoing prospective registry of patients with atrial fibrillation from the arrhythmia clinic of the Department of Medicine I, University Hospital Munich, Ludwig-Maximilians-University, Germany, established within the Arrhythmia-Biobank-LMU with support from the German Federal Ministry of Education and Research, which collects blood samples and clinical data and follows patients for recurrence of atrial fibrillation after rhythm-control interventions such as catheter ablation."; "PMID:28416818", "PMID:31113362", "PMID:32078373", "PMID:32814717"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3573; "AF patients in the registry contributed to the CATCH ME combined dataset (2019)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6528378/"; rdfs:comment "AFLMU (Germany) 3573 Ongoing registry of AF patients from a large arrhythmia clinic" . _:2fd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFLMU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13347; , ; "PMID:37264683"; "An investigator-initiated, multicentre, parallel-group, open, blinded-outcome-assessment randomised trial sponsored by the Atrial Fibrillation Network (AFNET), which from July 2011 to December 2016 randomised patients with atrial fibrillation diagnosed within the previous year and cardiovascular risk factors, at 135 sites in 11 European countries, to early rhythm control therapy or usual care, to test whether early rhythm control prevents cardiovascular complications; its biosample substudy took blood at enrolment from consenting patients."; 2789; "AFNET", "EAST", "EAST-AFNET 4", "EAST-AFNET 4 biosample study", "EAST-AFNET 4 trial", "EAST-AFNET4", "EAST-AFNET4 biosample study", "EAST-AFNET4 trial", "Early Therapy of Atrial Fibrillation for Stroke Prevention Trial"; rdfs:label "Early Treatment of Atrial Fibrillation for Stroke Prevention Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13347 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13347; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37264683+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The randomized Early Treatment of Atrial Fibrillation for Stroke Prevention Trial found that early rhythm control reduces cardiovascular events in patients with recently diagnosed atrial fibrillation (AF) compared with usual care." . _:2fdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12311819/fullTextXML"; rdfs:comment "EAST-AFNET 4 is an international, investigator-initiated, parallel-group, open, blinded outcome assessment randomized clinical trial conducted in 11 European countries." . _:2fdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10227663/fullTextXML"; rdfs:comment "Based on data from the German subsample (n = 1 664) of the EAST-AFNET 4 randomised controlled trial, a cost-effectiveness analysis was conducted using time to first occurrence of a primary outcome event (cardiovascular death, stroke, or hospitalization for worsening heart failure or acute coronary syndrome) and time to death as effect measures." . _:2fdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37264683"; "Association of genetic risk and outcomes in patients with atrial fibrillation: interactions with early rhythm control in the EAST-AFNET4 trial."; "PMID:37264683", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10405565/fullTextXML"; rdfs:comment "Here, we analysed the interaction between genetic AF and stroke risk and cardiovascular events in the EAST-AFNET4 biosample study." . _:2fde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An investigator-initiated, multicentre, parallel-group, open, blinded-outcome-assessment randomised trial sponsored by the Atrial Fibrillation Network (AFNET), which from July 2011 to December 2016 randomised patients with atrial fibrillation diagnosed within the previous year and cardiovascular risk factors, at 135 sites in 11 European countries, to early rhythm control therapy or usual care, to test whether early rhythm control prevents cardiovascular complications; its biosample substudy took blood at enrolment from consenting patients."; "PMID:34473249", "PMID:37264683", "PMID:40737012", "https://clinicaltrials.gov/api/v2/studies/NCT01288352"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2789; "patients randomised July 2011-December 2016"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8982435/"; rdfs:comment "Between July 2011 and December 2016, 135 sites in 11 countries randomized 2789 patients to the EAST-AFNET 4 trial." . _:2fe02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFNET"; . _:2fe12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAST"; . _:2fe22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAST-AFNET 4"; . _:2fe32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAST-AFNET4"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13358, _:genid-371333f489424440b12a13b9d98ced822608-genid13360; , ; "PMID:31152163"; "The Danish part of the European Rational Approach for the Genetics of Diabetic Complications (EURAGEDIC) study: a case–control sample of adults with type 1 diabetes attending the outpatient clinic of the Steno Diabetes Center, Denmark, recruited from 1993 to 2000, with diabetic nephropathy (cases) or with persistent normoalbuminuria after more than 15 years of diabetes (controls), whose blood samples and clinical data were collected to study genetic risk factors for diabetic nephropathy and who were followed prospectively for mortality and cardiovascular and renal outcomes."; 451; 440; 891; "AFTER (EURAGEDIC) European Rational Approach for the Genetics of Diabetic Complications", "AFTER EU study", "AFTER-EU", "AFTER_EU", "AfterEU"; rdfs:label "AFTER EU"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13358 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13360 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fe42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13358; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17704113+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Single nucleotide polymorphisms (SNPs) in candidate genes were tested for association with overt diabetic nephropathy (persistent albuminuria >300 mg/24 h) in a large (n=2499) Type 1 diabetes case/control study." . _:2fe52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13360; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17704113+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Single nucleotide polymorphisms (SNPs) in candidate genes were tested for association with overt diabetic nephropathy (persistent albuminuria >300 mg/24 h) in a large (n=2499) Type 1 diabetes case/control study." . _:2fe62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0407-x/MediaObjects/41588_2019_407_MOESM1_ESM.pdf"; rdfs:comment "The AFTER EU study is the Danish part of the EURAGEDIC study which was supported by the European Commission (contract QLG2-CT-2001– 01669)." . _:2fe72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31152163"; "A catalog of genetic loci associated with kidney function from analyses of a million individuals."; "PMID:31152163", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0407-x/MediaObjects/41588_2019_407_MOESM1_ESM.pdf"; rdfs:comment "The AFTER EU study is the Danish part of the EURAGEDIC study which was supported by the European Commission (contract QLG2-CT-2001– 01669)." . _:2fe82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Danish part of the European Rational Approach for the Genetics of Diabetic Complications (EURAGEDIC) study: a case–control sample of adults with type 1 diabetes attending the outpatient clinic of the Steno Diabetes Center, Denmark, recruited from 1993 to 2000, with diabetic nephropathy (cases) or with persistent normoalbuminuria after more than 15 years of diabetes (controls), whose blood samples and clinical data were collected to study genetic risk factors for diabetic nephropathy and who were followed prospectively for mortality and cardiovascular and renal outcomes."; "PMID:17704113", "PMID:20357380", "PMID:31152163"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2fe92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 451; "type 1 diabetic patients: nephropathy cases and normoalbuminuric controls, recruited 1993-2000"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2890360/"; rdfs:comment "The study population included two groups: 451 patients with type 1 diabetes and diabetic nephropathy and 440 control subjects with type 1 diabetes for >15 years and persistent normoalbuminuria. Baseline clinical and laboratory characteristics of the 891 patients are shown in Table 1." . _:2fea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 440; "type 1 diabetic patients: nephropathy cases and normoalbuminuric controls, recruited 1993-2000"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2890360/"; rdfs:comment "The study population included two groups: 451 patients with type 1 diabetes and diabetic nephropathy and 440 control subjects with type 1 diabetes for >15 years and persistent normoalbuminuria. Baseline clinical and laboratory characteristics of the 891 patients are shown in Table 1." . _:2feb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 891; "type 1 diabetic patients: nephropathy cases and normoalbuminuric controls, recruited 1993-2000"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2890360/"; rdfs:comment "The study population included two groups: 451 patients with type 1 diabetes and diabetic nephropathy and 440 control subjects with type 1 diabetes for >15 years and persistent normoalbuminuria. Baseline clinical and laboratory characteristics of the 891 patients are shown in Table 1." . _:2fec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFTER-EU"; . _:2fed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AFTER_EU"; . _:2fee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AfterEU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13371; ; "PMID:30804558"; "An international consortium of autism genetics research groups at more than 50 centres in North America and Europe, initiated by the National Alliance for Autism Research (later Autism Speaks) and the US National Institutes of Health and formed from four existing consortia (the Autism Genetics Cooperative, the Autism Genetic Resource Exchange, the Collaborative Programs of Excellence in Autism and the International Molecular Genetic Study of Autism Consortium). It pools the families with autism spectrum disorder collected at its sites, diagnosed with the ADI-R and ADOS, for genome-wide linkage, copy number variation and association studies."; 9050; "AGP", "AGP Consortium", "Autism Genome Project Consortium"; rdfs:label "Autism Genome Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13371 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2fef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13371; "autism spectrum disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4067558/fullTextXML"; rdfs:comment "The first phase of the AGP involved examining genetic linkage and chromosomal rearrangements in 1,168 families with at least two ASD-affected individuals." . _:2ff02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3004528/unicode"; rdfs:comment "As one of many contributors to the AGP, AGRE continues to sit on the cutting edge of research." . _:2ff12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30804558"; "Identification of common genetic risk variants for autism spectrum disorder."; "PMID:30804558", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6454898/unicode"; rdfs:comment "In brief, five cohorts provided genotypes to the sample (N denoting the number of trios for which genotypes were available): The Geschwind Autism Center of Excellence (ACE; N = 391), the Autism Genome Project (AGP; N = 2,272), the Autism Genetic Resource Exchange (AGRE; N = 974), the NIMH Repository, the Montreal/Boston Collection (MONBOS; N = 1,396, and the Simons Simplex Collection(SSC; N = 2,231)." . _:2ff22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of autism genetics research groups at more than 50 centres in North America and Europe, initiated by the National Alliance for Autism Research (later Autism Speaks) and the US National Institutes of Health and formed from four existing consortia (the Autism Genetics Cooperative, the Autism Genetic Resource Exchange, the Collaborative Programs of Excellence in Autism and the International Molecular Genetic Study of Autism Consortium). It pools the families with autism spectrum disorder collected at its sites, diagnosed with the ADI-R and ADOS, for genome-wide linkage, copy number variation and association studies."; "PMID:16078860", "PMID:17322880", "PMID:24768552"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ff32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9050; "individuals from 2,845 ASD-affected families in the 2014 CNV analysis (stages 1 and 2)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4067558/fullTextXML"; rdfs:comment "To explore the contribution of CNV to ASD, we expanded our previous study (stage 1)6 with an additional 1,604 families (stage 2), bringing the total to 9,050 individuals from 2,845 ASD-affected families." . _:2ff42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13378; , ; ; "PMID:30804558"; "A resource of biomaterials (cell lines, DNA and serum) and genetic and phenotypic data from families with autism spectrum disorder recruited from across the United States, mostly multiplex families with two or more affected members, whose diagnostic assessments (ADI-R and ADOS) and blood draws are done in the families' homes. It was established in 1997 by the Cure Autism Now Foundation and the Human Biological Data Interchange, is now managed by Autism Speaks, and makes its samples and data available to qualified researchers."; "AGRE", "Autism Genetics Resource Exchange", "autism genetic resource exchange"; rdfs:label "Autism Genetic Resource Exchange"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13378 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ff52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13378; "autism spectrum disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6071802/fullTextXML"; rdfs:comment "Our study sample comprised individuals from the Autism Genetic Resource Exchange (AGRE), a volunteer research repository of families from across the United States in which typically two or more siblings have a diagnosis of ASD (multiplex families)." . _:2ff62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6071802/fullTextXML"; rdfs:comment "Our study sample comprised individuals from the Autism Genetic Resource Exchange (AGRE), a volunteer research repository of families from across the United States in which typically two or more siblings have a diagnosis of ASD (multiplex families)." . _:2ff72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30804558"; "Identification of common genetic risk variants for autism spectrum disorder."; "PMID:30804558", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6454898/unicode"; rdfs:comment "In brief, five cohorts provided genotypes to the sample (N denoting the number of trios for which genotypes were available): The Geschwind Autism Center of Excellence (ACE; N = 391), the Autism Genome Project (AGP; N = 2,272), the Autism Genetic Resource Exchange (AGRE; N = 974), the NIMH Repository, the Montreal/Boston Collection (MONBOS; N = 1,396, and the Simons Simplex Collection(SSC; N = 2,231)." . _:2ff82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A resource of biomaterials (cell lines, DNA and serum) and genetic and phenotypic data from families with autism spectrum disorder recruited from across the United States, mostly multiplex families with two or more affected members, whose diagnostic assessments (ADI-R and ADOS) and blood draws are done in the families' homes. It was established in 1997 by the Cure Autism Now Foundation and the Human Biological Data Interchange, is now managed by Autism Speaks, and makes its samples and data available to qualified researchers."; "PMID:11452364", "PMID:20955925", "PMID:28702161"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ff92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGRE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13384; , ; "PMID:28346443"; "A case-control study of adult glioma run by the University of California, San Francisco since 1991, whose cases are adults with newly diagnosed, histologically confirmed glioma: population-based cases living in six San Francisco Bay Area counties (Alameda, Contra Costa, Marin, San Francisco, San Mateo and Santa Clara), identified through the regional cancer registry's rapid case ascertainment, and, from 2002, clinic-based cases recruited at the UCSF Neuro-oncology Clinic. Its controls were found by random-digit dialling in the same counties and frequency-matched to cases on age, sex and ethnicity, and later drawn from UCSF clinics; it studies environmental, immunological and genetic risk factors for glioma."; 1110; 1284; "AGS", "SFAGS", "San Francisco Adult Glioma Study", "UCSF Adult Glioma Study", "University of California, San Francisco Adult Glioma Study"; rdfs:label "San Francisco Bay Area Adult Glioma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13384 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:2ffa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13384; "glioma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5558246/unicode"; rdfs:comment "The UCSF adult glioma case–control study (SFAGS–GWAS) included participants of the San Francisco Bay Area Adult Glioma Study (AGS)." . _:2ffb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5558246/unicode"; rdfs:comment "Population-based cases who were diagnosed between 1991 and 2009 (series 1–4) and who were residing in the six San Francisco Bay area counties were ascertained using the Cancer Prevention Institute of California’s early-case ascertainment system." . _:2ffc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346443"; "Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors."; "PMID:28346443", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5558246/unicode"; rdfs:comment "The UCSF adult glioma case–control study (SFAGS–GWAS) included participants of the San Francisco Bay Area Adult Glioma Study (AGS)." . _:2ffd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of adult glioma run by the University of California, San Francisco since 1991, whose cases are adults with newly diagnosed, histologically confirmed glioma: population-based cases living in six San Francisco Bay Area counties (Alameda, Contra Costa, Marin, San Francisco, San Mateo and Santa Clara), identified through the regional cancer registry's rapid case ascertainment, and, from 2002, clinic-based cases recruited at the UCSF Neuro-oncology Clinic. Its controls were found by random-digit dialling in the same counties and frequency-matched to cases on age, sex and ethnicity, and later drawn from UCSF clinics; it studies environmental, immunological and genetic risk factors for glioma."; "PMID:16749939", "PMID:28346443"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:2ffe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1110; "eligible (not necessarily enrolled) cases and controls of series 1-2, 1991-2000"; "https://doi.org/10.1186/1471-2407-6-148"; rdfs:comment "The total number of subjects from both series that were identified as eligible to participate in the San Francisco Bay Area Adult Glioma Study, 1991–2000, includes 1,110 cases and 1,284 controls." . _:2fff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1284; "eligible (not necessarily enrolled) cases and controls of series 1-2, 1991-2000"; "https://doi.org/10.1186/1471-2407-6-148"; rdfs:comment "The total number of subjects from both series that were identified as eligible to participate in the San Francisco Bay Area Adult Glioma Study, 1991–2000, includes 1,110 cases and 1,284 controls." . _:30002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AGS"; . _:30012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SFAGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13393; , , ; ; "PMID:24836286"; "A hospital-based case-control study of colorectal cancer at Aichi Cancer Center in Nagoya, Japan, part of the centre's Hospital-based Epidemiologic Research Program (HERPACC): its first collection (Aichi-1) took colorectal cancer cases and cancer-free controls, frequency-matched on age and sex, from the first-visit outpatients enrolled in HERPACC-II in 2000–2005, and its second (Aichi-2) recruited further cases and matched controls at the same hospital. Both collections were genotyped for the Asia Colorectal Cancer Consortium's genome-wide association studies of colorectal cancer in East Asians."; 640; 1414; "Aichi", "Aichi CRC Studies", "Aichi CRC Study", "Aichi Study", "Aichi_Con", "Asian Consortium, Colorectal Cancer Aichi"; rdfs:label "Aichi Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13393 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13393; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The Aichi CRC Study: This study had two case-control collections (Aichi-1 and Aichi-2) with a total of 640 cases and 1,414 controls" . _:30032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "Aichi Study: This study is part of the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC-II), Japan" . _:30042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "Aichi Study: This study is part of the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC-II), Japan" . _:30052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24836286"; "Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk."; "PMID:24836286", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4068797/unicode"; rdfs:comment "Specifically, stage 1 (GWAS discovery) consisted of five studies: Shanghai CRC Study 1 (Shanghai-1, n = 3,102), Shanghai CRC Study 2 (Shanghai-2, n = 908), Guangzhou CRC Study 1 (Guangzhou-1, n = 1,603), Aichi CRC Study 1 (Aichi-1, n =1,346), and Korean Cancer Prevention Study-II CRC (KCPS-II, n = 1,301)." . _:30062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of colorectal cancer at Aichi Cancer Center in Nagoya, Japan, part of the centre's Hospital-based Epidemiologic Research Program (HERPACC): its first collection (Aichi-1) took colorectal cancer cases and cancer-free controls, frequency-matched on age and sex, from the first-visit outpatients enrolled in HERPACC-II in 2000–2005, and its second (Aichi-2) recruited further cases and matched controls at the same hospital. Both collections were genotyped for the Asia Colorectal Cancer Consortium's genome-wide association studies of colorectal cancer in East Asians."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 640; "colorectal cancer cases and controls in Aichi-1 and Aichi-2 combined (2014)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The Aichi CRC Study: This study had two case-control collections (Aichi-1 and Aichi-2) with a total of 640 cases and 1,414 controls 1 ." . _:30082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1414; "colorectal cancer cases and controls in Aichi-1 and Aichi-2 combined (2014)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The Aichi CRC Study: This study had two case-control collections (Aichi-1 and Aichi-2) with a total of 640 cases and 1,414 controls 1 ." . _:30092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aichi"; . _:300a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aichi_Con"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13403; ; , ; ; "PMID:41629673"; "A consortium, funded by the US National Cancer Institute as a Program Project, that pools the questionnaire data, tumour tissue and DNA of four epidemiological studies of breast cancer in African American women in the United States (two case-control studies, the Carolina Breast Cancer Study and the Women's Circle of Health Study, and two cohorts, the Black Women's Health Study and the Multiethnic Cohort Study), with tumour subtyping, genotyping and data harmonisation done centrally in shared cores, to study the causes of breast cancer subtypes, especially oestrogen receptor-negative breast cancer, in African American women."; 5739; 14273; "AMBER", "AMBER Consortium", "AMBER consortium", "African American Breast Cancer Epidemiology and Risk", "African American Breast Cancer Epidemiology and Risk consortium", "African American breast cancer epidemiology and risk consortium", "The African American Breast Cancer Epidemiology and Risk consortium"; rdfs:label "African American Breast Cancer Epidemiology and Risk Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13403 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:300b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13403; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24343304+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We combined samples and data from four large epidemiologic studies of breast cancer in AA women, two cohort and two case-control, creating the African American Breast Cancer Epidemiology and Risk consortium." . _:300c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5142758/fullTextXML"; rdfs:comment "The analysis included 91,627 SNPs genotyped or imputed in 3,663 breast cancer cases, (1,983 ER-positive and 1,098 ER-negative) and 4,687 controls from the African American Breast Cancer Epidemiology and Risk consortium, a collaborative project of four large studies of breast cancer in African-American women (Carolina Breast Cancer Study, Black Women's Health Study, Women's Circle of Health Study, and Multiethnic Cohort)." . _:300d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3945713/unicode"; rdfs:comment "The study began in 1995 when 59,000 AA women 21–69 years of age from across the United States completed a 14-page postal health questionnaire." . _:300e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41629673"; "Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry."; "PMID:41629673", "https://pmc.ncbi.nlm.nih.gov/articles/PMC13007722/"; rdfs:comment "The genotype datasets used in this study are publicly available via dbGaP (https://www.ncbi.nlm.nih.gov/gap/) including AABC under accession code phs000851.v1.p1, ONCO under accession code phs001265.v1.p1, AMBER under accession code phs000669.v1.p1, ROOT under accession code phs000383.v1.p1, and GBHS under accession code phs002387.v1.p1." . _:300f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium, funded by the US National Cancer Institute as a Program Project, that pools the questionnaire data, tumour tissue and DNA of four epidemiological studies of breast cancer in African American women in the United States (two case-control studies, the Carolina Breast Cancer Study and the Women's Circle of Health Study, and two cohorts, the Black Women's Health Study and the Multiethnic Cohort Study), with tumour subtyping, genotyping and data harmonisation done centrally in shared cores, to study the causes of breast cancer subtypes, especially oestrogen receptor-negative breast cancer, in African American women."; "PMID:24343304", "PMID:25849024"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5739; "pooled breast cancer cases and controls with questionnaire data in the four member studies, 2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3945713/"; rdfs:comment "Cases and controls in the AMBER Consortium, by subtype and study, 2013 Case-control studies Cohort studies Total with questionnaire data available CBCS WCHS BWHS MEC Breast cancer cases 1,535 1,088 2,063 1,053 5,739 ER+ 841 555 848 623 2,867 ER− 587 225 444 224 1,480 ER unknown 107 308 771 206 1,392 ER−, PR−, HER2− 336 130 153 — 619 Age at diagnosis <40 227 125 178 0 530 Age at diagnosis ≥40 1,308 963 1,885 1,053 5,209 Controls 788 975 8,298 4,212 14,273" . _:30112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14273; "pooled breast cancer cases and controls with questionnaire data in the four member studies, 2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3945713/"; rdfs:comment "Cases and controls in the AMBER Consortium, by subtype and study, 2013 Case-control studies Cohort studies Total with questionnaire data available CBCS WCHS BWHS MEC Breast cancer cases 1,535 1,088 2,063 1,053 5,739 ER+ 841 555 848 623 2,867 ER− 587 225 444 224 1,480 ER unknown 107 308 771 206 1,392 ER−, PR−, HER2− 336 130 153 — 619 Age at diagnosis <40 227 125 178 0 530 Age at diagnosis ≥40 1,308 963 1,885 1,053 5,209 Controls 788 975 8,298 4,212 14,273" . _:30122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMBER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13412; , ; "PMID:19198609"; "A German case-control study of myocardial infarction whose cases were enrolled in 2004–2006 in a prospective multicentre registry at 4 heart centres and 6 cardiology departments in North Rhine-Westphalia, Lower Saxony and Mecklenburg-Western Pomerania: consecutive men younger than 65 admitted with ST- or non-ST-segment elevation acute myocardial infarction, all of whom underwent cardiac catheterisation and revascularisation. Its controls are participants of the population-based Dortmund Health Study, and the case-control sample served as a replication study for the Myocardial Infarction Genetics Consortium's genome-wide association study of early-onset myocardial infarction."; 809; 1132; "AMI", "AMI Gene", "AMI Gene Study", "AMI Gene Study/Dortmund Health Study", "Acute Myocardial Infarction Gene Study/Dortmund Health Study"; rdfs:label "Acute Myocardial Infarction Gene Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13412 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13412; "myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "Between 2004 and 2006, we enrolled a cohort of 809 consecutive men younger than 65 and suffering from non-ST-segment elevation MI or ST- segment elevation MI with an onset of symptoms less than 24 hours before admission." . _:30142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The AMI Gene Study/Dortmund Health Study13 is a prospective multi-centre registry involving 4 heart centres and 6 cardiologic departments in North-Rhine-Westphalia, Lower Saxony, and Mecklenburg-Western Pomerania." . _:30152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19198609"; "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants."; "PMID:19198609", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Acute Myocardial Infarction (AMI) Gene Study/Dortmund Health Study; ii) Verona Heart Study; iii) Mid-America Heart Institute; iv) Irish Family Study; v) German MI Family Study II; and vi) INTERHEART." . _:30162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German case-control study of myocardial infarction whose cases were enrolled in 2004–2006 in a prospective multicentre registry at 4 heart centres and 6 cardiology departments in North Rhine-Westphalia, Lower Saxony and Mecklenburg-Western Pomerania: consecutive men younger than 65 admitted with ST- or non-ST-segment elevation acute myocardial infarction, all of whom underwent cardiac catheterisation and revascularisation. Its controls are participants of the population-based Dortmund Health Study, and the case-control sample served as a replication study for the Myocardial Infarction Genetics Consortium's genome-wide association study of early-onset myocardial infarction."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 809; "MI cases enrolled 2004-2006 (809); Dortmund Health Study controls genotyped (1,132)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "Between 2004 and 2006, we enrolled a cohort of 809 consecutive men younger than 65 and suffering from non-ST-segment elevation MI or ST- segment elevation MI with an onset of symptoms less than 24 hours before admission." . _:30182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1132; "MI cases enrolled 2004-2006 (809); Dortmund Health Study controls genotyped (1,132)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "Between 2004 and 2006, we enrolled a cohort of 809 consecutive men younger than 65 and suffering from non-ST-segment elevation MI or ST- segment elevation MI with an onset of symptoms less than 24 hours before admission." . _:30192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMI"; . _:301a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMI Gene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13421; , ; ; "PMID:34237774"; "A prospective cohort and biobank, set up by the Amsterdam UMC COVID study group, of adult patients admitted with COVID-19 from 2020 to the COVID-19 wards and intensive care units of the two academic hospitals of Amsterdam UMC (locations University of Amsterdam and Vrije Universiteit Amsterdam) in the Netherlands, which stores their clinical data and left-over and serially collected biological samples. Its genotyped patients, with controls, were contributed to the COVID-19 Host Genetics Initiative's genome-wide association meta-analyses of COVID-19."; 416; "Amsterdam UMC COVID study group", "Amsterdam UMC COVID-19 biobank", "Amsterdam UMC Covid-19 Biobank", "Amsterdam_UMC_COVID_study_group"; rdfs:label "Amsterdam UMC COVID-19 Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13421 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:301b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13421; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8118723/fullTextXML"; rdfs:comment "The Amsterdam UMC COVID-19 biobank is a prospective cohort study containing clinical data and archive material from adult patients admitted with COVID-19 in two academic hospitals of Amsterdam UMC." . _:301c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11306713/fullTextXML"; rdfs:comment "The Amsterdam UMC COVID study group (Amsterdam UMC location University of Amsterdam and location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands)" . _:301d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34237774"; "Mapping the human genetic architecture of COVID-19."; "PMID:34237774", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "Patients or their legal representatives received written information about the study (Amsterdam UMC Covid-19 biobank) and were asked to give written informed consent for participation." . _:301e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort and biobank, set up by the Amsterdam UMC COVID study group, of adult patients admitted with COVID-19 from 2020 to the COVID-19 wards and intensive care units of the two academic hospitals of Amsterdam UMC (locations University of Amsterdam and Vrije Universiteit Amsterdam) in the Netherlands, which stores their clinical data and left-over and serially collected biological samples. Its genotyped patients, with controls, were contributed to the COVID-19 Host Genetics Initiative's genome-wide association meta-analyses of COVID-19."; "PMID:34000622", "PMID:38337670", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:301f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 416; "COVID-19 patients included 23 March-26 May 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8118723/fullTextXML"; rdfs:comment "Between March 23rd and May 26th 2020, 416 patients with COVID-19 were included in the Amsterdam UMC COVID-19 Biobank (online appendix eFig. 1)." . _:30202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Amsterdam_UMC_COVID_study_group"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13428; , ; ; "PMID:27135401"; "A nationwide population-based case-control study of endometrial cancer in Australia, run by a study group at QIMR Berghofer Medical Research Institute in Brisbane, whose cases are women aged 18–79 years newly diagnosed with histologically confirmed primary endometrial cancer between July 2005 and December 2007, identified through major hospitals and state cancer registries, and whose controls are women randomly selected from the Australian Electoral Roll and frequency-matched to the cases by state of residence and five-year age group. Participants gave risk-factor information by telephone interview and blood samples, and the cases were followed for survival, to study the causes and outcomes of endometrial cancer."; 1399; 740; "ANECS"; rdfs:label "Australian National Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13428 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13428; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22245995+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ANECS was a population-based case-control study conducted from 2005 to 2007, in which 1,399 women with newly diagnosed histologically confirmed primary endometrial cancer and 740 control women provided risk factor information via telephone interview." . _:30222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12723092/fullTextXML"; rdfs:comment "Data from the Australian National Endometrial Cancer Study (ANECS) cohort was examined, which was established as a nationwide, population‐based, case–control study assessing Australian endometrial cancers." . _:30232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27135401"; "Five endometrial cancer risk loci identified through genome-wide association analysis."; "PMID:27135401", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4907351/fullTextXML"; rdfs:comment "As described previously, cases with endometrioid histology were selected from two population studies; the UK Studies of Epidemiology and Risk factors in Cancer Heredity (SEARCH, n=681) and the Australian National Endometrial Cancer Study (ANECS, n=606), and genotypes generated using Illumina Infinium 610K arrays 10." . _:30242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based case-control study of endometrial cancer in Australia, run by a study group at QIMR Berghofer Medical Research Institute in Brisbane, whose cases are women aged 18–79 years newly diagnosed with histologically confirmed primary endometrial cancer between July 2005 and December 2007, identified through major hospitals and state cancer registries, and whose controls are women randomly selected from the Australian Electoral Roll and frequency-matched to the cases by state of residence and five-year age group. Participants gave risk-factor information by telephone interview and blood samples, and the cases were followed for survival, to study the causes and outcomes of endometrial cancer."; "PMID:22245995", "PMID:27135401", "PMID:29533022", "PMID:40033780"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1399; "endometrial cancer cases and population controls with interview data (2007)"; "https://link.springer.com/article/10.1007/s10552-011-9894-5"; rdfs:comment "Table 1 Descriptive characteristics of 1,399 women with endometrial cancer and 740 population-based controls" . _:30262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 740; "endometrial cancer cases and population controls with interview data (2007)"; "https://link.springer.com/article/10.1007/s10552-011-9894-5"; rdfs:comment "Table 1 Descriptive characteristics of 1,399 women with endometrial cancer and 740 population-based controls" . _:30272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13436, _:genid-371333f489424440b12a13b9d98ced822608-genid13438, _:genid-371333f489424440b12a13b9d98ced822608-genid13440, _:genid-371333f489424440b12a13b9d98ced822608-genid13442; , ; ; "PMID:23202125"; "A registry of patients with heart disease treated at the University of Lübeck hospital (University Hospital Schleswig-Holstein, Campus Lübeck) in Germany, with blood samples and clinical data, whose angiography sample (Angio-Lueb) consists of consecutive patients referred for coronary angiography and classified from the angiogram as having coronary artery disease or myocardial infarction or not. It has provided cases for genetic association studies of coronary artery disease, with population controls from KORA, and of dilated cardiomyopathy."; 1254; "Angio-Lueb", "Angio-Lüb", "Luebeck Angiographic Study"; rdfs:label "Lübeck Registry of Structural Heart Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13436 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13438 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13440 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13442 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13436; "structural heart disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Consecutive patients referred for coronary angiography, classified as CAD/MI cases based on the coronary angiogram" . _:30292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13438; "coronary artery disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Consecutive patients referred for coronary angiography, classified as CAD/MI cases based on the coronary angiogram" . _:302a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13440; "dilated cardiomyopathy"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Consecutive patients referred for coronary angiography, classified as CAD/MI cases based on the coronary angiogram" . _:302b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13442; "myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Consecutive patients referred for coronary angiography, classified as CAD/MI cases based on the coronary angiogram" . _:302c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2958814/fullTextXML"; rdfs:comment "additional German DCM cases (mean age 53±13 years; n = 564, n = 440 men, n = 124 women) were recruited from different German study centers: Berlin, n = 64; Lübeck, n = 96 (Angio-Lueb)" . _:302d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23202125"; "Large-scale association analysis identifies new risk loci for coronary artery disease."; "PMID:23202125", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Angio-Lueb/ KORA F3 Lübeck Registry of Structural Heart Disease /KORA (Kooperative Gesundheitsforschung 21378990 16648850 European Germany CAD/MI Consecutive patients referred for coronary angiography, classified as CAD/MI cases based on the coronary angiogram" . _:302e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of patients with heart disease treated at the University of Lübeck hospital (University Hospital Schleswig-Holstein, Campus Lübeck) in Germany, with blood samples and clinical data, whose angiography sample (Angio-Lueb) consists of consecutive patients referred for coronary angiography and classified from the angiogram as having coronary artery disease or myocardial infarction or not. It has provided cases for genetic association studies of coronary artery disease, with population controls from KORA, and of dilated cardiomyopathy."; "PMID:19348677", "PMID:20975947", "PMID:23202125", "PMID:27150028"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:302f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1254; "CAD cases from the registry's angiography sample (Angio-Lueb) in the CARDIoGRAMplusC4D stage 2 analysis; controls are KORA F3"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "Angio-Lueb /KORAF3 CAD 2658 1655/1003 1254/1404" . _:30302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angio-Lueb"; . _:30312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Angio-Lüb"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13450; , , ; "PMID:22190364"; "A multiple sclerosis case-control collection assembled for genome-wide association studies by the Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), a collaboration of multiple sclerosis research groups in Australia and New Zealand, whose cases are people with multiple sclerosis of European ancestry from Australia and New Zealand; its genome-wide scan compared them with shared genotype data from controls of European ancestry from Australia, the United Kingdom and the United States, and further ANZgene cases and controls were collected for replication and fine-mapping, to identify genetic variants that influence susceptibility to multiple sclerosis."; 3268; 3579; "ANZGene", "ANZgene", "ANZgene Consortium", "ANZgene Study", "Australian and New Zealand Multiple Sclerosis Genetics Consortium", "The Australia and New Zealand Multiple Sclerosis Genetics Conortium"; rdfs:label "Australia and New Zealand Multiple Sclerosis Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13450 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13450; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3035668/fullTextXML"; rdfs:comment "Following quality control as outlined in the ANZgene GWAS [28], this dataset consisted of 1618 MS cases of European ancestry from Australia and New Zealand, and 3413 healthy controls of European ancestry from Australia, the UK and the US." . _:30332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3035668/fullTextXML"; rdfs:comment "Following quality control as outlined in the ANZgene GWAS [28], this dataset consisted of 1618 MS cases of European ancestry from Australia and New Zealand, and 3413 healthy controls of European ancestry from Australia, the UK and the US." . _:30342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22190364"; "Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci."; "PMID:22190364", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3247076/unicode"; rdfs:comment "Analyzed in the ANZgene Study" . _:30352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiple sclerosis case-control collection assembled for genome-wide association studies by the Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), a collaboration of multiple sclerosis research groups in Australia and New Zealand, whose cases are people with multiple sclerosis of European ancestry from Australia and New Zealand; its genome-wide scan compared them with shared genotype data from controls of European ancestry from Australia, the United Kingdom and the United States, and further ANZgene cases and controls were collected for replication and fine-mapping, to identify genetic variants that influence susceptibility to multiple sclerosis."; "PMID:19525955", "PMID:21347448", "PMID:26990204"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3268; "ANZ MS cases and healthy controls genotyped in the ANZgene fine-mapping study (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4798184/fullTextXML"; rdfs:comment "The 3268 MS cases and 3579 healthy controls genotyped for the fine-mapping component of this study formed part of a larger ANZgene MS loci fine-mapping study, and were phenotyped according to established criteria." . _:30372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3579; "ANZ MS cases and healthy controls genotyped in the ANZgene fine-mapping study (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4798184/fullTextXML"; rdfs:comment "The 3268 MS cases and 3579 healthy controls genotyped for the fine-mapping component of this study formed part of a larger ANZgene MS loci fine-mapping study, and were phenotyped according to established criteria." . _:30382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANZGene"; . _:30392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANZgene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13459; , , , , ; ; "PMID:31959993"; "A prospective registry, run from the Department of Ophthalmology at Flinders University in Adelaide, of people with glaucoma referred by their eye practitioners across Australia and New Zealand: mainly people with advanced glaucoma (chiefly primary open-angle glaucoma with severe visual field loss), but also with less advanced, secondary and developmental glaucomas such as Axenfeld–Rieger malformation, whose clinical information and blood or saliva samples are collected by post. It was set up to find genetic risk factors for glaucoma blindness, and relatives of participants who carry myocilin mutations are offered cascade genetic testing."; 9373; "ANZRAG", "Australia and New Zealand Registry of Advanced Glaucoma", "Australian and New Zealand Registry of Advanced Glaucoma"; rdfs:label "Australian & New Zealand Registry of Advanced Glaucoma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13459 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:303a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13459; "glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22171965+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian and New Zealand Registry of Advanced Glaucoma is a prospective study that aims to develop a large cohort of glaucoma cases with severe visual field loss to identify novel genetic risk factors for glaucoma blindness." . _:303b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22171965+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Samples are collected across Australia and New Zealand using postage kits." . _:303c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32081492+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "For the primary analysis, we examined the glaucoma phenotype of 2154 POAG patients enrolled in the Australian and New Zealand Registry of Advanced Glaucoma, including patients recruited from the United Kingdom." . _:303d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31959993"; "Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression."; "PMID:31959993", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8056672/unicode"; rdfs:comment "The Australian & New Zealand Registry of Advanced Glaucoma (ANZRAG) comprises 3,071 POAG cases of European descent, who were compared to 6,750 controls." . _:303e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective registry, run from the Department of Ophthalmology at Flinders University in Adelaide, of people with glaucoma referred by their eye practitioners across Australia and New Zealand: mainly people with advanced glaucoma (chiefly primary open-angle glaucoma with severe visual field loss), but also with less advanced, secondary and developmental glaucomas such as Axenfeld–Rieger malformation, whose clinical information and blood or saliva samples are collected by post. It was set up to find genetic risk factors for glaucoma blindness, and relatives of participants who carry myocilin mutations are offered cascade genetic testing."; "PMID:22171965", "PMID:23453510", "PMID:28513611", "https://anzrag.com.au/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:303f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9373; "participants in the registry (website counter), 2026"; "https://anzrag.com.au/" . _:30402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ANZRAG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13467; , ; ; "PMID:25349970"; "A population-based, retrospective study of the histological types of ovarian carcinoma in the province of Alberta, Canada, whose cases are women with ovarian carcinoma identified through the Alberta Cancer Registry and sampled by histological type (endometrioid, clear cell, mucinous and high-grade serous carcinoma), with archival tumour tissue and pathology reports reviewed by a gynaecological pathologist, clinical data abstracted from medical charts and yearly updates of vital status, to study molecular and clinical differences between the types and survival."; 1000; "AOTT", "AOV", "Alberta Ovarian Tumor Types study"; rdfs:label "Alberta Ovarian Tumor Types Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13467 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13467; "ovarian carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3794544/fullTextXML"; rdfs:comment "Patients were sampled from an ongoing study of ovarian histological types comprising approximately 1,000 women with ovarian carcinomas (300 endometrioid, 300 clear cell, 300 mucinous, and 100 high-grade serous)." . _:30422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13578740/fullTextXML"; rdfs:comment "AOV (Alberta Ovarian Tumor Types study, Canada, 1978–2010, PubMed ID: 25349970)" . _:30432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25349970"; "Evidence for a time-dependent association between FOLR1 expression and survival from ovarian carcinoma: implications for clinical testing. An Ovarian Tumour Tissue Analysis consortium study."; "PMID:25349970", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4264456/fullTextXML"; rdfs:comment "For the Alberta Ovarian Tumor Types study (AOV), Calgary Serous Carcinoma study (CAL), Nottingham Ovarian Cancer study (NOT), Toronto Ovarian Cancer study (TOC) and British Columbia Cancer Agency study (VAN), the institutional research ethics boards waived the need to obtain consent and all local human research investigations committees approved each study." . _:30442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, retrospective study of the histological types of ovarian carcinoma in the province of Alberta, Canada, whose cases are women with ovarian carcinoma identified through the Alberta Cancer Registry and sampled by histological type (endometrioid, clear cell, mucinous and high-grade serous carcinoma), with archival tumour tissue and pathology reports reviewed by a gynaecological pathologist, clinical data abstracted from medical charts and yearly updates of vital status, to study molecular and clinical differences between the types and survival."; "PMID:24175302", "PMID:25349970", "PMID:41922350"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "women with ovarian carcinoma in the study (approximate), 2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3794544/"; rdfs:comment "Patients were sampled from an ongoing study of ovarian histological types comprising approximately 1,000 women with ovarian carcinomas (300 endometrioid, 300 clear cell, 300 mucinous, and 100 high-grade serous)." . _:30462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AOTT"; . _:30472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AOV"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13475; , ; ; "PMID:29892016"; "A national prostate cancer tissue bank in Australia, organised as a network of nodes in several states (among them Queensland, New South Wales and South Australia), that since the mid-2000s has collected radical prostatectomy tissue, blood, and clinical, pathology and follow-up data from men with prostate cancer, recruited through their urologists at diagnosis or before surgery at participating hospitals under common standard operating procedures, and supplies them for research, including genetic association studies of prostate cancer."; 3100; "APCB"; rdfs:label "Australian Prostate Cancer BioResource"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13475 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13475; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37370825+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This retrospective study was an assessment of 114 men with prostate cancer who provided radical prostatectomy samples to the Australian Prostate Cancer Bioresource between 2006 and 2014." . _:30492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892016"; "Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci."; "PMID:29892016", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "APCB = Acquired through the Australian Prostate Cancer BioResource (APCB), where cases were recruited through local urologists at the time of diagnosis." . _:304a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national prostate cancer tissue bank in Australia, organised as a network of nodes in several states (among them Queensland, New South Wales and South Australia), that since the mid-2000s has collected radical prostatectomy tissue, blood, and clinical, pathology and follow-up data from men with prostate cancer, recruited through their urologists at diagnosis or before surgery at participating hospitals under common standard operating procedures, and supplies them for research, including genetic association studies of prostate cancer."; "PMID:22970239", "PMID:23846169", "PMID:29703916", "PMID:29892016", "PMID:37370825"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:304b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3100; "prostate cancer patients in the bioresource (2018)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5923293/"; rdfs:comment "The validation cohort of prostate cancer patients (N = 40) were recruited as part of the Australian Prostate Cancer BioResource (APCB) consisting of 3,100 patients including 350 men recruited via collaborations with urologists, 2,000 men from the QLD node of APCB, and 750 men recruited in collaboration with The Cancer Council Queensland." . _:304c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APCB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13481; , ; "PMID:28159758"; "A population-based osteoporosis screening study and longitudinal cohort of women from the Aberdeen area of north-east Scotland, selected at random from Community Health Index (primary care) records within 25 miles of Aberdeen and invited, when aged 45–54, to a baseline health visit with bone density measurement in 1990–1994, with further visits in 1997–1999, when blood was taken for DNA, and in 2007–2011, to study bone loss, osteoporotic fracture risk and falls and their dietary, medical and genetic determinants."; 5119; "APOSS"; rdfs:label "Aberdeen Prospective Osteoporosis Screening Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13481 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:304d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13481; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5506508/fullTextXML"; rdfs:comment "Subjects are women from the Aberdeen Prospective Osteoporosis Screening Study (APOSS) cohort, a population-based screening program for assessing osteoporotic fracture risk, which initially recruited 5119 women aged 45–54 years between 1990 and 1994 using random selection from Community Health Index [15]." . _:304e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21179049+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This cross-sectional study examined 3236 Scottish women age 50-59 years, who were members of the Aberdeen Prospective Osteoporosis Screening Study." . _:304f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28159758"; "Longitudinal study of weight, energy intake and physical activity change across two decades in older Scottish women."; "PMID:28159758", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28159758+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A longitudinal cohort of 5119 perimenopausal women from the Aberdeen Prospective Osteoporosis Screening Study (APOSS) recruited between 1990 and 1994, with follow-up visits at 1997-1999 and 2009-2011." . _:30502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based osteoporosis screening study and longitudinal cohort of women from the Aberdeen area of north-east Scotland, selected at random from Community Health Index (primary care) records within 25 miles of Aberdeen and invited, when aged 45–54, to a baseline health visit with bone density measurement in 1990–1994, with further visits in 1997–1999, when blood was taken for DNA, and in 2007–2011, to study bone loss, osteoporotic fracture risk and falls and their dietary, medical and genetic determinants."; "PMID:22234152", "PMID:28702941", "PMID:32547728"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5119; "women attending the baseline visit 1990-1994"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5506508/"; rdfs:comment "Subjects are women from the Aberdeen Prospective Osteoporosis Screening Study (APOSS) cohort, a population-based screening program for assessing osteoporotic fracture risk, which initially recruited 5119 women aged 45–54 years between 1990 and 1994 using random selection from Community Health Index [15]." . _:30522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "APOSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13488; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "PMID:23563134"; "A multinational, randomised, double-blind, double-dummy phase 3 trial, sponsored by Bristol-Myers Squibb and Pfizer, in which patients with atrial fibrillation or atrial flutter and at least one additional risk factor for stroke, enrolled from 2006 at over 1,000 centres in about 40 countries, were randomly assigned to apixaban or warfarin to test whether apixaban is non-inferior to warfarin in preventing stroke or systemic embolism. The trial ended in 2011; its participants' baseline blood samples and genotypes have since been used in biomarker and genetic studies."; 18201; "ARISTOTLE", "Apixaban for reduction in stroke and other ThromboemboLic events in atrial fibrillation", "Apixaban for the Prevention of Stroke in Subjects With Atrial Fibrillation"; rdfs:label "Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13488 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13488; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21870978+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this randomized, double-blind trial, we compared apixaban (at a dose of 5 mg twice daily) with warfarin (target international normalized ratio, 2.0 to 3.0) in 18,201 patients with atrial fibrillation and at least one additional risk factor for stroke." . _:30542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Adrogué\",\"state\":\"Buenos Aires\",\"zip\":\"1846\",\"country\":\"Argentina\"" . _:30552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Coffs Harbour\",\"state\":\"New South Wales\",\"zip\":\"2450\",\"country\":\"Australia\"" . _:30562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Graz\",\"zip\":\"8036\",\"country\":\"Austria\"" . _:30572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Aalst\",\"zip\":\"9300\",\"country\":\"Belgium\"" . _:30582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Salvador\",\"state\":\"Estado de Bahia\",\"zip\":\"40144-900\",\"country\":\"Brazil\"" . _:30592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Calgary\",\"state\":\"Alberta\",\"zip\":\"T2E 7C5\",\"country\":\"Canada\"" . _:305a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Temuco\",\"state\":\"Araucania\",\"zip\":\"4781156\",\"country\":\"Chile\"" . _:305b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Beijing\",\"state\":\"Beijing Municipality\",\"zip\":\"100001\",\"country\":\"China\"" . _:305c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Medellín\",\"state\":\"Antioquia\",\"country\":\"Colombia\"" . _:305d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Boskovice\",\"zip\":\"680 21\",\"country\":\"Czechia\"" . _:305e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Arhus C\",\"zip\":\"8000\",\"country\":\"Denmark\"" . _:305f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Helsinki\",\"zip\":\"00280\",\"country\":\"Finland\"" . _:30602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Amiens\",\"zip\":\"80054\",\"country\":\"France\"" . _:30612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Aachen\",\"zip\":\"52074\",\"country\":\"Germany\"" . _:30622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Hong Kong\",\"country\":\"Hong Kong\"" . _:30632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Budapest\",\"zip\":\"1023\",\"country\":\"Hungary\"" . _:30642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Hyderabad\",\"state\":\"Andhra Pradesh\",\"zip\":\"500004\",\"country\":\"India\"" . _:30652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Afula\",\"zip\":\"18101\",\"country\":\"Israel\"" . _:30662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Lido di Camaiore\",\"state\":\"Lucca\",\"zip\":\"55043\",\"country\":\"Italy\"" . _:30672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Itoshima\",\"state\":\"Fukuoka\",\"zip\":\"819-1104\",\"country\":\"Japan\"" . _:30682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Kubang Kerian\",\"state\":\"Kelantan\",\"zip\":\"16150\",\"country\":\"Malaysia\"" . _:30692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Tijuana\",\"state\":\"Estado de Baja California\",\"zip\":\"22500\",\"country\":\"Mexico\"" . _:306a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"'s-Hertogenbosch\",\"zip\":\"5211 NL\",\"country\":\"Netherlands\"" . _:306b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Ålesund\",\"zip\":\"6003\",\"country\":\"Norway\"" . _:306c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Chiclayo\",\"state\":\"Lambayeque\",\"zip\":\"CIX\",\"country\":\"Peru\"" . _:306d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Laoag\",\"state\":\"Ilocos Norte\",\"zip\":\"2900\",\"country\":\"Philippines\"" . _:306e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Gdynia\",\"zip\":\"81-423\",\"country\":\"Poland\"" . _:306f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Baia Mare\",\"zip\":\"430031\",\"country\":\"Romania\"" . _:30702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Chelyabinsk\",\"zip\":\"454136\",\"country\":\"Russia\"" . _:30712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Singapore\",\"zip\":\"168752\",\"country\":\"Singapore\"" . _:30722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Westdene\",\"state\":\"Bloemfontein\",\"zip\":\"9301\",\"country\":\"South Africa\"" . _:30732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Anyang-si\",\"state\":\"Gyeonggi-do\",\"zip\":\"431-070\",\"country\":\"South Korea\"" . _:30742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"San Juan\",\"state\":\"Alicante\",\"zip\":\"03550\",\"country\":\"Spain\"" . _:30752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Goteberg\",\"zip\":\"413 45\",\"country\":\"Sweden\"" . _:30762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Baden\",\"zip\":\"5404\",\"country\":\"Switzerland\"" . _:30772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Taipei\",\"zip\":\"100\",\"country\":\"Taiwan\"" . _:30782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Ankara\",\"zip\":\"06100\",\"country\":\"Turkey (Türkiye)\"" . _:30792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Chernivtsy\",\"zip\":\"58013\",\"country\":\"Ukraine\"" . _:307a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Aberdeen\",\"state\":\"Aberdeenshire\",\"zip\":\"AB25 2ZN\",\"country\":\"United Kingdom\"" . _:307b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; rdfs:comment "\"city\":\"Birmingham\",\"state\":\"Alabama\",\"zip\":\"35209\",\"country\":\"United States\"" . _:307c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23563134"; "N-terminal pro-B-type natriuretic peptide for risk assessment in patients with atrial fibrillation: insights from the ARISTOTLE Trial (Apixaban for the Prevention of Stroke in Subjects With Atrial Fibrillation)."; "PMID:23563134", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23563134+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the ARISTOTLE trial, 18,201 patients with AF were randomized to apixaban or warfarin." . _:307d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational, randomised, double-blind, double-dummy phase 3 trial, sponsored by Bristol-Myers Squibb and Pfizer, in which patients with atrial fibrillation or atrial flutter and at least one additional risk factor for stroke, enrolled from 2006 at over 1,000 centres in about 40 countries, were randomly assigned to apixaban or warfarin to test whether apixaban is non-inferior to warfarin in preventing stroke or systemic embolism. The trial ended in 2011; its participants' baseline blood samples and genotypes have since been used in biomarker and genetic studies."; "PMID:20211292", "PMID:21870978", "PMID:27306620", "https://clinicaltrials.gov/api/v2/studies/NCT00412984"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:307e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18201; "randomised patients in the main analysis (2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21870978+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this randomized, double-blind trial, we compared apixaban (at a dose of 5 mg twice daily) with warfarin (target international normalized ratio, 2.0 to 3.0) in 18,201 patients with atrial fibrillation and at least one additional risk factor for stroke." . _:307f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARISTOTLE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13534; , ; "PMID:21104233"; "A case–control study of osteoporosis at Aarhus University Hospital, Denmark, whose cases are osteoporotic men and women with vertebral fractures and low bone mineral density and whose controls are normal individuals, assessed with dual-energy X-ray absorptiometry, radiographs and bone turnover markers and genotyped for candidate-gene studies and for replication of genome-wide association findings on bone mineral density and fracture. It took part in the GENOMOS consortium and in the GEFOS meta-analysis of bone mineral density and fracture."; 462; 336; "AROS"; rdfs:label "Aarhus Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13534 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13534; "osteoporosis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4102322/unicode"; rdfs:comment "AROS (Aarhus Osteoporosis Study) is a case–control study, including 462 osteoporotic patients (vertebral fracture and T-score < −2.5) and 336 controls." . _:30812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21104233+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined the effect of ALOX12 polymorphisms on BMD and the risk of fractures in two Danish cohorts: AROS, a case-control population comprising 809 individuals and DOPS, a population comprising 1,716 perimenopausal women allocated to hormone therapy or not at baseline and followed for up to 10 years." . _:30822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21104233"; "Polymorphisms in the ALOX12 gene and osteoporosis."; "PMID:21104233", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21104233+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined the effect of ALOX12 polymorphisms on BMD and the risk of fractures in two Danish cohorts: AROS, a case-control population comprising 809 individuals and DOPS, a population comprising 1,716 perimenopausal women allocated to hormone therapy or not at baseline and followed for up to 10 years." . _:30832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of osteoporosis at Aarhus University Hospital, Denmark, whose cases are osteoporotic men and women with vertebral fractures and low bone mineral density and whose controls are normal individuals, assessed with dual-energy X-ray absorptiometry, radiographs and bone turnover markers and genotyped for candidate-gene studies and for replication of genome-wide association findings on bone mineral density and fracture. It took part in the GENOMOS consortium and in the GEFOS meta-analysis of bone mineral density and fracture."; "PMID:16475872", "PMID:17205326", "PMID:22504420", "PMID:24516880", "http://www.gefos.org/?q=content/aarhus-osteoporosis-study-0"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 462; "osteoporotic cases and normal controls"; "https://doi.org/10.1007/s00223-006-0059-6"; rdfs:comment "We investigated if the polymorphisms in the IL-1α gene affect the risk of osteoporotic fractures, bone mineral density (BMD), and bone turnover in 462 osteoporotic patients and 336 normal controls." . _:30852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 336; "osteoporotic cases and normal controls"; "https://doi.org/10.1007/s00223-006-0059-6"; rdfs:comment "We investigated if the polymorphisms in the IL-1α gene affect the risk of osteoporotic fractures, bone mineral density (BMD), and bone turnover in 462 osteoporotic patients and 336 normal controls." . _:30862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AROS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13542; , ; "PMID:39462804"; "An ongoing prospective, community-based registry, set up in June 2005 and run from the Academic Medical Center in Amsterdam, of all out-of-hospital cardiac arrests with a resuscitation attempt by emergency medical services in the province of North Holland, the Netherlands, which collects resuscitation and ECG data, outcomes, medical history from hospitals and general practitioners, medication use from community pharmacies and, since July 2007, DNA from patients with documented ventricular tachycardia or fibrillation. It studies the outcome and the clinical, pharmacological, environmental and genetic determinants of out-of-hospital cardiac arrest, taking controls from pharmacy and general-practice databases for case–control analyses."; 3005; "ARREST", "AmsteRdam REsuscitation STudies", "AmsteRdam Resuscitation Studies"; rdfs:label "Amsterdam Resuscitation Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13542 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13542; "out-of-hospital cardiac arrest"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4189338/fullTextXML"; rdfs:comment "To our knowledge, ARREST is the first prospective population-based registry of patients with OHCA aimed at identifying genetic, clinical, pharmacological and environmental determinants of OHCA with documented VT/VF." . _:30882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3419243/fullTextXML"; rdfs:comment "ARREST is a prospective, community-based study aimed at establishing the genetic and clinical determinants of SCA in the population of a contiguous region (urban and rural communities, ∼2.4 million inhabitants) of the Netherlands." . _:30892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39462804"; "Association Between Delay to First Shock and Successful First-Shock Ventricular Fibrillation Termination in Patients With Witnessed Out-of-Hospital Cardiac Arrest."; "PMID:39462804", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39462804+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients with a witnessed out-of-hospital cardiac arrest and ventricular fibrillation (VF) as an initial rhythm were included using the prospective ARREST registry (Amsterdam Resuscitation Studies)." . _:308a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective, community-based registry, set up in June 2005 and run from the Academic Medical Center in Amsterdam, of all out-of-hospital cardiac arrests with a resuscitation attempt by emergency medical services in the province of North Holland, the Netherlands, which collects resuscitation and ECG data, outcomes, medical history from hospitals and general practitioners, medication use from community pharmacies and, since July 2007, DNA from patients with documented ventricular tachycardia or fibrillation. It studies the outcome and the clinical, pharmacological, environmental and genetic determinants of out-of-hospital cardiac arrest, taking controls from pharmacy and general-practice databases for case–control analyses."; "PMID:25332818", "https://pure.amsterdamumc.nl/en/datasets/arrest-amsterdam-resuscitation-studies/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:308b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3005; "OHCA cases with VT/VF and DNA collected, July 2007-January 2014 (DNA sub-collection only)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4189338/"; rdfs:comment "We included 3005 cases and continue to collect DNA samples at the same rate." . _:308c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARREST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13549; , ; ; "PMID:19734902"; "A collaboration of United Kingdom Alzheimer's disease research groups at the Universities of Nottingham, Manchester, Southampton and Bristol, Queen's University Belfast and the Oxford Project to Investigate Memory and Ageing, funded by the Alzheimer's Research Trust (renamed Alzheimer's Research UK, after which the collaboration is called the ARUK Consortium), that pooled DNA from people with probable or post-mortem-confirmed Alzheimer's disease and from elderly controls into a DNA bank hosted at the University of Nottingham. Its cases and controls formed one of the sample collections of the GERAD genome-wide association study of Alzheimer's disease."; "ART", "ART Collaboration", "ARUK Consortium", "Alzheimer's Research UK Consortium"; rdfs:label "Alzheimer's Research Trust Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13549 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:308d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13549; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5937907/fullTextXML"; rdfs:comment "All case samples were diagnosed as either definite (post mortem confirmed) or probable Alzheimer’s disease (AD) according to National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer’s Disease and Related Disorders Association (NINCDS-ADRDA), and the Consortium to Establish a Registry for Alzheimer’s Disease (CERAD) guidelines." . _:308e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5937907/fullTextXML"; rdfs:comment "Human DNA samples were obtained from the Alzheimer’s Research Trust (ART) Collaboration [University of Nottingham; University of Manchester; University of Southampton; University of Bristol; Queen’s University, Belfast; the Oxford Project to Investigate Memory and Ageing (OPTIMA), Oxford University]" . _:308f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19734902"; "Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease."; "PMID:19734902", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.440/MediaObjects/41588_2009_BFng440_MOESM9_ESM.pdf"; rdfs:comment "Samples were drawn from the MRC genetic resource for AD; the ART Collaboration; Competence Network of Dementia and Department of Psychiatry, University of Bonn; Aristotle University of Thessaloniki" . _:30902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaboration of United Kingdom Alzheimer's disease research groups at the Universities of Nottingham, Manchester, Southampton and Bristol, Queen's University Belfast and the Oxford Project to Investigate Memory and Ageing, funded by the Alzheimer's Research Trust (renamed Alzheimer's Research UK, after which the collaboration is called the ARUK Consortium), that pooled DNA from people with probable or post-mortem-confirmed Alzheimer's disease and from elderly controls into a DNA bank hosted at the University of Nottingham. Its cases and controls formed one of the sample collections of the GERAD genome-wide association study of Alzheimer's disease."; "PMID:19734902", "PMID:23459933", "PMID:23990795", "PMID:29675612", "PMID:32274467"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ART"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13555, _:genid-371333f489424440b12a13b9d98ced822608-genid13557, _:genid-371333f489424440b12a13b9d98ced822608-genid13559, _:genid-371333f489424440b12a13b9d98ced822608-genid13561; ; , , , ; "PGS000161", "PMID:22436128"; "A hospital-based case–control study of basal cell carcinoma of the skin and of bladder and kidney cancers in relation to low-level inorganic arsenic in drinking water, funded by the European Commission and conducted in 2002–2004 in counties of Hungary, Romania and Slovakia with arsenic in groundwater. Its incident cases, and its controls drawn from general surgery, orthopaedic and trauma in-patients of hospitals across the same areas and frequency matched to the cases by age, sex and county, all aged 30–79, were assessed for lifetime arsenic exposure, urinary arsenic metabolites and genetic susceptibility."; 852; 540; 1392; "ASHRAM", "Arsenic Health Risk Assessment and Molecular Epidemiology study in Central Europe", "EESP"; ; rdfs:label "Arsenic Health Risk Assessment and Molecular Epidemiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13555 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13557 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13559 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13561 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13555; "bladder cancer"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:30932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13557; "kidney cancer"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:30942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13559; "basal cell carcinoma"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:30952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13561; "inorganic arsenic in drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3346769/fullTextXML"; rdfs:comment "The Arsenic Health Risk Assessment and Molecular Epidemiology (ASHRAM) study aimed to quantify the risks of several cancer types in relation to long-term low-level iAs exposure via drinking water in Hungary, Romania, and Slovakia." . _:30962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20401490+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Methods and results are presented for an arsenic exposure assessment integral to an epidemiological case-control study of arsenic and cancer-the European Commission funded ASHRAM (Arsenic Health Risk Assessment and Molecular Epidemiology) study carried out in some counties of Hungary, Romania and Slovakia." . _:30972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000161"; "Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts."; "PMID:30968590" . _:30982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22436128"; "Inorganic arsenic and basal cell carcinoma in areas of Hungary, Romania, and Slovakia: a case-control study."; "PMID:22436128", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22436128+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Arsenic Health Risk Assessment and Molecular Epidemiology (ASHRAM) study, a case-control study, was conducted in areas of Hungary, Romania, and Slovakia with reported presence of iAs in groundwater." . _:30992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of basal cell carcinoma of the skin and of bladder and kidney cancers in relation to low-level inorganic arsenic in drinking water, funded by the European Commission and conducted in 2002–2004 in counties of Hungary, Romania and Slovakia with arsenic in groundwater. Its incident cases, and its controls drawn from general surgery, orthopaedic and trauma in-patients of hospitals across the same areas and frequency matched to the cases by age, sex and county, all aged 30–79, were assessed for lifetime arsenic exposure, urinary arsenic metabolites and genetic susceptibility."; "PMID:20401490", "PMID:21131975", "PMID:22436128"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:309a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 852; "cancer cases and hospital controls recruited 2002-2004"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:309b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 540; "cancer cases and hospital controls recruited 2002-2004"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:309c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1392; "cancer cases and hospital controls recruited 2002-2004"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:309d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASHRAM"; . _:309e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EESP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13572, _:genid-371333f489424440b12a13b9d98ced822608-genid13574; , ; "PMID:15279051"; "A study of young men aged 18–24 doing compulsory military service in Greece, randomly selected in successive waves during their first two weeks at the National Basic Air Force Training Center in Tripolis, who completed self-rated questionnaires on schizotypy and psychopathology and computerised neurocognitive and eye-movement tasks and gave DNA, a subgroup being reassessed at discharge two years later. Led from the University Mental Health Research Institute in Athens, it studies psychosis proneness and its cognitive and genetic correlates in the general population."; 2243; "ASPIS"; rdfs:label "Athens Study of Psychosis Proneness and Incidence of Schizophrenia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13572 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13574 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:309f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13572; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2572614/fullTextXML"; rdfs:comment "Briefly, the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS) examined 2243 randomly selected young male conscripts aged 18 to 24 years from the Greek Air Force in their first 2 weeks of admission to the National Basic Air Force Training Center." . _:30a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13574; "psychosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2572614/fullTextXML"; rdfs:comment "Briefly, the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS) examined 2243 randomly selected young male conscripts aged 18 to 24 years from the Greek Air Force in their first 2 weeks of admission to the National Basic Air Force Training Center." . _:30a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15279051+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of this study within the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS) was the examination of the latent structure of schizotypal dimensions among a large population of young male conscripts in the Greek Air Force during their first week of military training." . _:30a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:15279051"; "Factorial composition of self-rated schizotypal traits among young males undergoing military training."; "PMID:15279051", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15279051+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of this study within the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS) was the examination of the latent structure of schizotypal dimensions among a large population of young male conscripts in the Greek Air Force during their first week of military training." . _:30a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of young men aged 18–24 doing compulsory military service in Greece, randomly selected in successive waves during their first two weeks at the National Basic Air Force Training Center in Tripolis, who completed self-rated questionnaires on schizotypy and psychopathology and computerised neurocognitive and eye-movement tasks and gave DNA, a subgroup being reassessed at discharge two years later. Led from the University Mental Health Research Institute in Athens, it studies psychosis proneness and its cognitive and genetic correlates in the general population."; "PMID:18834502", "PMID:22503357", "PMID:23155182"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2243; "young male conscripts examined"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2572614/fullTextXML"; rdfs:comment "Briefly, the Athens Study of Psychosis Proneness and Incidence of Schizophrenia (ASPIS) examined 2243 randomly selected young male conscripts aged 18 to 24 years from the Greek Air Force in their first 2 weeks of admission to the National Basic Air Force Training Center." . _:30a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ASPIS"; . a owl:NamedIndividual, ; , ; , ; "PMID:23599335"; "An Australian twin study of eye traits that combines twins, and some of their siblings, given an eye examination in the Twins Eye Study in Tasmania or in the Brisbane Adolescent Twin Study, with measures such as cycloplegic refraction, intraocular pressure and retinal photographs and with genome-wide genotypes, used in heritability, linkage and genome-wide association studies of ophthalmic traits. Its participants were recruited through the Australian Twin Registry, existing twin studies, schools and publicity."; 2235; "ATES", "Australian Twin Eye study"; rdfs:label "Australian Twin Eye Study"@en . _:30a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs42003-020-0802-y/MediaObjects/42003_2020_802_MOESM1_ESM.pdf"; rdfs:comment "BATS The Brisbane Adolescent Twins Study (BATS) is a part of the Australian Twin Eye Study, which was described elsewhere 3 ." . _:30a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4141707/"; rdfs:comment "The Australian Twin Eye Study comprises participants examined as part of the Twins Eye Study in Tasmania (TEST) or the Brisbane Adolescent Twins Study (BATS)." . _:30a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23599335"; "Copy number variation at chromosome 5q21.2 is associated with intraocular pressure."; "PMID:23599335", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23599335+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian Twin Eye Study and BMES both replicated the 5q21.2 CNV association and direction of effect (P = 0.001 and P = 0.02, respectively)." . _:30a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Australian twin study of eye traits that combines twins, and some of their siblings, given an eye examination in the Twins Eye Study in Tasmania or in the Brisbane Adolescent Twin Study, with measures such as cycloplegic refraction, intraocular pressure and retinal photographs and with genome-wide genotypes, used in heritability, linkage and genome-wide association studies of ophthalmic traits. Its participants were recruited through the Australian Twin Registry, existing twin studies, schools and publicity."; "PMID:19803772", "PMID:20835236", "PMID:23116649", "PMID:23599335"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2235; "twins and siblings examined in the Twins Eye Study in Tasmania, including the BATS wave (2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3855231/"; rdfs:comment "This study examined 2,235 people at total cost of approximately AUS$1,564,500." . _:30ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13587; , ; "PMID:17132649"; "A prospective clinical cohort of patients with coronary artery disease (at least one coronary stenosis over 30% on angiography), from stable angina to acute coronary syndromes, enrolled in successive phases from November 1996 to early 2004 when they underwent coronary angiography at the Department of Medicine II of the Johannes Gutenberg University Mainz or the Bundeswehrzentralkrankenhaus Koblenz, Germany, and followed for cardiovascular death and non-fatal myocardial infarction. It studies clinical, genetic and laboratory determinants of the progression and outcome of coronary atherosclerosis, and for genetic case–control analyses also recruited healthy controls from the Rhein-Main area."; 3800; "AtheroGene", "AtheroGene Study", "AtheroGene registry", "AtheroGene study", "Atherogene", "Atherogene Registry", "Large AtheroGene Study"; rdfs:label "AtheroGene Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13587; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4496051/fullTextXML"; rdfs:comment "The AtheroGene study is a prospective, multicenter, clinical cohort study including patients with known CAD (at least one stenosis over 30%) as diagnosed by coronary angiography." . _:30ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6164542/fullTextXML"; rdfs:comment "Between June 1999 and March 2004, 3800 patients who underwent coronary angiography were recruited in the AtheroGene Study at the Department of Medicine II of the Johannes Gutenberg-University Mainz and the Bundeswehr-Zentralkrankenhaus Koblenz" . _:30ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17132649"; "Impact of C-reactive protein and fibrinogen on cardiovascular prognosis in patients with stable angina pectoris: the AtheroGene study."; "PMID:17132649", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17132649+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a substudy of the prospective AtheroGene registry, we assessed in 1806 patients with documented CAD and stable angina pectoris, the risk of cardiovascular death and non-fatal myocardial infarction (n=183) over a median follow-up of 3.5 (maximum 7.7) years according to baseline levels of C-reactive protein and fibrinogen." . _:30af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective clinical cohort of patients with coronary artery disease (at least one coronary stenosis over 30% on angiography), from stable angina to acute coronary syndromes, enrolled in successive phases from November 1996 to early 2004 when they underwent coronary angiography at the Department of Medicine II of the Johannes Gutenberg University Mainz or the Bundeswehrzentralkrankenhaus Koblenz, Germany, and followed for cardiovascular death and non-fatal myocardial infarction. It studies clinical, genetic and laboratory determinants of the progression and outcome of coronary atherosclerosis, and for genetic case–control analyses also recruited healthy controls from the Rhein-Main area."; "PMID:19495570", "PMID:23136988", "PMID:26154343", "PMID:32321351"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3800; "patients undergoing coronary angiography recruited June 1999-March 2004"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7428563/"; rdfs:comment "Three thousand eight hundred patients, who underwent coronary angiography, were recruited in the AtheroGene Study at the Department of Medicine II of the Johannes Gutenberg‐University Mainz or the Bundeswehr‐Zentralkrankenhaus Koblenz, from June 1999 to March 2004." . _:30b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AtheroGene"; . _:30b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Atherogene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13595; , ; ; "PMID:23793025"; "A genome-wide association case–control sample of unrelated Australians of European descent, one from each family, drawn from the twins and their relatives studied at the Queensland Institute of Medical Research (QIMR) who were genotyped genome-wide: migraine cases, identified in semi-structured telephone interviews based on the International Classification of Headache Disorders (ICHD-II) or by self-report and chosen preferentially for severity, and population controls from families with no known migraine. It is one of the studies of the International Headache Genetics Consortium."; 2825; 3525; 6350; "ATM", "Australia ATM", "Australian Twin Migraine GWA Study", "Australian Twin Migraine GWA study"; rdfs:label "Australian Twin Migraine"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13595 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13595; "migraine"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3947136/unicode"; rdfs:comment "The Australian Twin Migraine GWA study (N = 6350) included 2825 migraine cases and 3525 controls, 805 of whom met the diagnostic criteria for MDD." . _:30b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23793025"; "Genome-wide meta-analysis identifies new susceptibility loci for migraine."; "PMID:23793025", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2676/MediaObjects/41588_2013_BFng2676_MOESM11_ESM.pdf"; rdfs:comment "The Australian Twin Migraine (ATM) GWA study includes data from Australian twins and their families." . _:30b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association case–control sample of unrelated Australians of European descent, one from each family, drawn from the twins and their relatives studied at the Queensland Institute of Medical Research (QIMR) who were genotyped genome-wide: migraine cases, identified in semi-structured telephone interviews based on the International Classification of Headache Disorders (ICHD-II) or by self-report and chosen preferentially for severity, and population controls from families with no known migraine. It is one of the studies of the International Headache Genetics Consortium."; "PMID:24081561", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2676/MediaObjects/41588_2013_BFng2676_MOESM11_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2825; "migraine cases and controls in the GWA sample (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24081561+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian Twin Migraine GWA study (N = 6,350) included 2,825 migraine cases and 3,525 controls, 805 of whom met the diagnostic criteria for MDD." . _:30b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3525; "migraine cases and controls in the GWA sample (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24081561+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian Twin Migraine GWA study (N = 6,350) included 2,825 migraine cases and 3,525 controls, 805 of whom met the diagnostic criteria for MDD." . _:30b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6350; "migraine cases and controls in the GWA sample (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24081561+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian Twin Migraine GWA study (N = 6,350) included 2,825 migraine cases and 3,525 controls, 805 of whom met the diagnostic criteria for MDD." . _:30b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13603; , ; "PMID:20860503"; "A genetic study of severe asthma in the United Kingdom, supported by Asthma UK, which recruited people of European ancestry with severe asthma (Global Initiative for Asthma classes 3–5) at UK centres and compared them in genome-wide association studies with controls without asthma or wheeze, to identify genetic determinants of severe asthma and whether they differ from those of mild to moderate asthma."; 1026; 1026; "AUGOSA"; rdfs:label "Asthma UK Genetics of Severe Asthma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13603 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13603; "severe asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22561531+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study was undertaken in 933 European ancestry individuals with severe asthma based on Global Initiative for Asthma (GINA) criteria 3 or above and 3346 clean controls." . _:30bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://thorax.bmj.com/content/67/9/762"; rdfs:comment "Only subjects in classes 3–5 were included, recruited across UK-based centres." . _:30bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20860503"; "A large-scale, consortium-based genomewide association study of asthma."; "PMID:20860503", "https://europepmc.org/api/getPdf?pmcid=PMC4260321"; rdfs:comment "We did find a suggestive association with rs1837253 on chromosome 5, situated within the TSLP gene, among patients with severe asthma in the SEVERE study (P = 3×10−6; odds ratio, 0.56), but this association was not replicated among patients with severe asthma in the AUGOSA (Asthma UK Genetics of Severe Asthma) study." . _:30bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of severe asthma in the United Kingdom, supported by Asthma UK, which recruited people of European ancestry with severe asthma (Global Initiative for Asthma classes 3–5) at UK centres and compared them in genome-wide association studies with controls without asthma or wheeze, to identify genetic determinants of severe asthma and whether they differ from those of mild to moderate asthma."; "PMID:20860503", "PMID:22561531"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1026; "severe asthma cases genotyped (discovery cohort), 2012"; "https://doi.org/10.1136/thoraxjnl-2011-201262"; rdfs:comment "We genotyped 1026 individuals of European ancestry with severe asthma based on the Global Initiative for Asthma (GINA) criteria.18 Only subjects in classes 3–5 were included, recruited across UK-based centres." . _:30bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1026; "severe asthma cases genotyped (discovery cohort), 2012"; "https://doi.org/10.1136/thoraxjnl-2011-201262"; rdfs:comment "We genotyped 1026 individuals of European ancestry with severe asthma based on the Global Initiative for Asthma (GINA) criteria.18 Only subjects in classes 3–5 were included, recruited across UK-based centres." . _:30c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AUGOSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13611; , ; "PMID:39572784"; "A case–control dataset for genome-wide association studies of dilated cardiomyopathy assembled at Amsterdam UMC, the Netherlands. Its cases are adult index patients referred by secondary or tertiary cardiologists to Amsterdam UMC for genetic testing for dilated cardiomyopathy, with the diagnosis confirmed from the medical chart and a left ventricular ejection fraction below 50%, and its controls are unrelated participants of the Netherlands Twin Register."; 978; 7207; "AUMC", "AUMC_DCM", "Amsterdam UMC cohort"; rdfs:label "Amsterdam UMC dilated cardiomyopathy GWAS cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13611 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13611; "dilated cardiomyopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11631763/fullTextXML"; rdfs:comment "The Amsterdam cohort comprised DCM patients referred for genetic testing at Amsterdam UMC, who underwent chart review for DCM diagnosis and had evidence of hypocontractility on imaging; 978 DCM cases passed all genotype quality-control criteria, of which 783 homogeneous cases of patients of European ancestry were included in GWAS (Supplementary Note and Supplementary Table 3)." . _:30c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11631763/fullTextXML"; rdfs:comment "The clinical DCM datasets included (1) a published GWAS by Garnier et al. that enrolled 2,651 DCM cases from France, Germany, Italy, the UK and the United States8; (2) a reanalyzed dataset of 909 DCM cases from Heidelberg, Germany10 (Supplementary Note) and (3) a new dataset of Dutch DCM cases from Amsterdam UMC." . _:30c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39572784"; "Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience."; "PMID:39572784", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11631763/fullTextXML"; rdfs:comment "The Amsterdam cohort comprised DCM patients referred for genetic testing at Amsterdam UMC, who underwent chart review for DCM diagnosis and had evidence of hypocontractility on imaging; 978 DCM cases passed all genotype quality-control criteria, of which 783 homogeneous cases of patients of European ancestry were included in GWAS (Supplementary Note and Supplementary Table 3)." . _:30c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control dataset for genome-wide association studies of dilated cardiomyopathy assembled at Amsterdam UMC, the Netherlands. Its cases are adult index patients referred by secondary or tertiary cardiologists to Amsterdam UMC for genetic testing for dilated cardiomyopathy, with the diagnosis confirmed from the medical chart and a left ventricular ejection fraction below 50%, and its controls are unrelated participants of the Netherlands Twin Register."; "PMID:39572784"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 978; "DCM cases and NTR controls passing genotype QC (2024)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01975-5/MediaObjects/41588_2024_1975_MOESM1_ESM.pdf"; rdfs:comment "Following QC procedures, the genome-wide data (the non-pruned data) for the 978 high-quality cases and 7207 high-quality controls were imputed to the TOPMed imputation panel on the Michigan Imputation Server." . _:30c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7207; "DCM cases and NTR controls passing genotype QC (2024)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-024-01975-5/MediaObjects/41588_2024_1975_MOESM1_ESM.pdf"; rdfs:comment "Following QC procedures, the genome-wide data (the non-pruned data) for the 978 high-quality cases and 7207 high-quality controls were imputed to the TOPMed imputation panel on the Michigan Imputation Server." . _:30c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AUMC"; . _:30c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AUMC_DCM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13620, _:genid-371333f489424440b12a13b9d98ced822608-genid13622; , ; "PMID:31537649"; "A clinic-based cohort study of patients with type 1 diabetes in the state of Salzburg, Austria, initiated in 2012 as the Austrian study of the International Diabetic Nephropathy Consortium (InterDiane), which follows the protocol of the Finnish Diabetic Nephropathy Study to identify risk factors for diabetic nephropathy and other chronic complications of type 1 diabetes. Patients are recruited consecutively at the outpatient departments of Paracelsus Medical University Hospital Salzburg and Diakonissen-Wehrle Hospital Salzburg, with clinical data drawn mainly from the Type 1 diabetes Registry of the state of Salzburg, and are re-examined every 1 to 1.5 years."; "AusDiane", "Austrian Diabetes Nephropathy Study"; rdfs:label "Austrian Diabetic Nephropathy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13620 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13622 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13620; "diabetic nephropathy"; "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The GWAS meta-analysis included up to 19,406 patients with type 1 diabetes and of European origin from 17 cohorts: The Austrian Diabetic Nephropathy Study (AusDiane)" . _:30ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13622; "type 1 diabetes"; "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The GWAS meta-analysis included up to 19,406 patients with type 1 diabetes and of European origin from 17 cohorts: The Austrian Diabetic Nephropathy Study (AusDiane)" . _:30cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31537649"; "Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen."; "PMID:31537649", "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The Austrian Diabetic Nephropathy Study (AusDiane) was initiated in 2012 in the state of Salzburg in Austria, and is part of the InterDiane Consortium (please see also the InterDiane cohort description)." . _:30cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based cohort study of patients with type 1 diabetes in the state of Salzburg, Austria, initiated in 2012 as the Austrian study of the International Diabetic Nephropathy Consortium (InterDiane), which follows the protocol of the Finnish Diabetic Nephropathy Study to identify risk factors for diabetic nephropathy and other chronic complications of type 1 diabetes. Patients are recruited consecutively at the outpatient departments of Paracelsus Medical University Hospital Salzburg and Diakonissen-Wehrle Hospital Salzburg, with clinical data drawn mainly from the Type 1 diabetes Registry of the state of Salzburg, and are re-examined every 1 to 1.5 years."; "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AusDiane"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13627; , ; "PMID:20801717"; "A case–control genetic association study of bipolar disorder in the United Kingdom, funded by GlaxoSmithKline, whose cases are people with bipolar disorder recruited in London and diagnosed with the Schedules for Clinical Assessment in Neuropsychiatry (SCAN) interview and the Operational Criteria Checklist, and whose controls are ethnically matched subjects recruited in the UK; its control group has also served as UK controls in genome-wide association studies of other disorders."; 515; 1316; "BACCS", "BACCs", "BaCCs", "Bipolar Affective Disorder Case Control Study", "Bipolar Association Case-Control Study", "London Bipolar Affective Disorder Case-Control Study"; rdfs:label "Bipolar Affective Case Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13627 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13627; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19089808+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of our study is to explore the association of DTNBP1 with BD and with a sub phenotype, presence/absence of psychotic symptoms, in a sample of 515 patients with BD (ICD10/DSMIV) and 1,316 ethnically matched control subjects recruited from the UK." . _:30cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4309466/fullTextXML"; rdfs:comment "Participants in the Bipolar Affective Disorder Case Control Study (BACCs) (n = 470) were recruited in London, United Kingdom in the same manner and assessed for diagnosis using the SCAN interview and Operational Criteria Checklist for Psychotic Illness Program [McGuffin et al., 1991]." . _:30d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20801717"; "Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study."; "PMID:20801717", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20801717+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We collected samples from patients with sporadic ALS from 20 UK hospitals and obtained UK control samples from the control groups of the Depression Case Control study, the Bipolar Affective Case Control Study, and the British 1958 birth cohort DNA collection." . _:30d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control genetic association study of bipolar disorder in the United Kingdom, funded by GlaxoSmithKline, whose cases are people with bipolar disorder recruited in London and diagnosed with the Schedules for Clinical Assessment in Neuropsychiatry (SCAN) interview and the Operational Criteria Checklist, and whose controls are ethnically matched subjects recruited in the UK; its control group has also served as UK controls in genome-wide association studies of other disorders."; "PMID:19089808", "PMID:20801717", "PMID:24964207", "PMID:30232950"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 515; "bipolar disorder cases and UK controls (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19089808+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of our study is to explore the association of DTNBP1 with BD and with a sub phenotype, presence/absence of psychotic symptoms, in a sample of 515 patients with BD (ICD10/DSMIV) and 1,316 ethnically matched control subjects recruited from the UK." . _:30d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1316; "bipolar disorder cases and UK controls (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19089808+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of our study is to explore the association of DTNBP1 with BD and with a sub phenotype, presence/absence of psychotic symptoms, in a sample of 515 patients with BD (ICD10/DSMIV) and 1,316 ethnically matched control subjects recruited from the UK." . _:30d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BACCS"; . _:30d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BACCs"; . _:30d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BaCCs"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13637, _:genid-371333f489424440b12a13b9d98ced822608-genid13639, _:genid-371333f489424440b12a13b9d98ced822608-genid13641, _:genid-371333f489424440b12a13b9d98ced822608-genid13643; , ; "PMID:33958783"; "A brain and body donation programme and clinicopathological study of ageing and neurodegenerative disorders at Banner Sun Health Research Institute in Arizona, United States, started in 1987. Its participants, mostly cognitively normal volunteers from the retirement communities of metropolitan Phoenix together with people recruited because they have Alzheimer's disease, Parkinson's disease or cancer, receive standardized general medical, neurological, neuropsychological and movement-disorder assessments during life and, for most, a full pathological examination after death."; 3100; "AZSAND", "Arizona Study of Aging and Neurodegenerative Disorders", "Arizona Study of Aging/Brain and Body Donation Program", "BBDP", "Banner Health study", "BannerHealth", "Brain and Body Donation Program"; rdfs:label "Arizona Study of Aging and Neurodegenerative Disorders and Brain and Body Donation Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13637 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13639 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13641 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13643 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13637; "Alzheimer's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4593391/unicode"; rdfs:comment "Recruitment is directed at subjects with a clinical diagnosis of Alzheimer’s disease (AD), Parkinson’s disease (PD) or cancer or who are free of other major neurological conditions." . _:30d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13639; "cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4593391/unicode"; rdfs:comment "Recruitment is directed at subjects with a clinical diagnosis of Alzheimer’s disease (AD), Parkinson’s disease (PD) or cancer or who are free of other major neurological conditions." . _:30d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13641; "Parkinson's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4593391/unicode"; rdfs:comment "Recruitment is directed at subjects with a clinical diagnosis of Alzheimer’s disease (AD), Parkinson’s disease (PD) or cancer or who are free of other major neurological conditions." . _:30da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13643; "neurodegenerative disorders"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4593391/unicode"; rdfs:comment "Recruitment is directed at subjects with a clinical diagnosis of Alzheimer’s disease (AD), Parkinson’s disease (PD) or cancer or who are free of other major neurological conditions." . _:30db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25619230+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Most BBDP subjects are enrolled as cognitively normal volunteers residing in the retirement communities of metropolitan Phoenix, Arizona." . _:30dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33958783"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8459648/unicode"; rdfs:comment "HBS, Arizona Study of Aging/Brain and Body Donation Program, NET-PD LS1, CamPaIGN, PICNICS, DIGPD, PDBP, PIB, ParkWest, PROPARK and PROPARK-C cohorts comprised the discovery population and DATATOP, PPMI, PreCEPT and Tartu the replication population." . _:30dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A brain and body donation programme and clinicopathological study of ageing and neurodegenerative disorders at Banner Sun Health Research Institute in Arizona, United States, started in 1987. Its participants, mostly cognitively normal volunteers from the retirement communities of metropolitan Phoenix together with people recruited because they have Alzheimer's disease, Parkinson's disease or cancer, receive standardized general medical, neurological, neuropsychological and movement-disorder assessments during life and, for most, a full pathological examination after death."; "PMID:25619230"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3100; "subjects enrolled since 1987 (stated as 'more than 3100'), 2015"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4593391/unicode"; rdfs:comment "The BBDP has been in existence since 1987 and has enrolled more than 3100 subjects over that time, which constitutes more than 2% of the current combined populations of the surrounding retirement communities." . _:30df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AZSAND"; . _:30e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBDP"; . _:30e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BannerHealth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13652; , ; "PMID:34214236"; "A community-based prostate cancer risk-screening study in the United Kingdom, coordinated by the Institute of Cancer Research, that invites men of European ancestry via their general practitioners to undergo a germline genetic profile test of prostate cancer risk single nucleotide polymorphisms. Men in the highest genetic-risk stratum are offered MRI-led prostate screening and targeted biopsy; the study began with a feasibility pilot before opening to wider recruitment."; 6393; "BARCODE 1", "The BARCODE 1 Study: The Use of Genetic Profiling to Guide Prostate Cancer Targeted Screening"; rdfs:label "BARCODE1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13652 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13652; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9292247/fullTextXML"; rdfs:comment "The BARCODE1 study (NCT03857477) is enrolling men of European ancestry from the community via their GPs to undergo a germline genetic profile test utilising 130 PCa risk SNPs." . _:30e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34214236+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The BARCODE1 Pilot has shown this community study in the UK to be feasible, with an overall uptake of 26%." . _:30e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34214236"; "The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening."; "PMID:34214236", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9292247/fullTextXML"; rdfs:comment "The BARCODE1 study (NCT03857477) is enrolling men of European ancestry from the community via their GPs to undergo a germline genetic profile test utilising 130 PCa risk SNPs." . _:30e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prostate cancer risk-screening study in the United Kingdom, coordinated by the Institute of Cancer Research, that invites men of European ancestry via their general practitioners to undergo a germline genetic profile test of prostate cancer risk single nucleotide polymorphisms. Men in the highest genetic-risk stratum are offered MRI-led prostate screening and targeted biopsy; the study began with a feasibility pilot before opening to wider recruitment."; "PMID:34214236"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:30e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6393; "men with a polygenic risk score calculated (genotyped participants), 2025"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:40214032%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "Among 40,292 persons invited to participate, 8953 (22.2%) expressed interest in participating and 6393 had their polygenic risk score calculated; 745 (11.7%) had a polygenic risk score in the 90th percentile or higher and were invited to undergo screening." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13658; "PMID:19879194"; "A collection of patients with relapsing–remitting multiple sclerosis or a clinically isolated syndrome with MRI signs of demyelination, assembled by Bayer Schering Pharma from four of its clinical trials: three studies of interferon beta-1b (BENEFIT, BEYOND and the 16-year long-term follow-up of the pivotal interferon beta-1b trial in relapsing–remitting multiple sclerosis) and one of a CCR1 antagonist. It was genotyped genome-wide and used as multiple sclerosis cases in genetic studies of susceptibility."; 1340; 1340; "BayerScheringPharma", "TT"; rdfs:label "Therapeutic Trial collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13658 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13658; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19879194+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "a validation set of 1340 individuals with MS and 1109 controls taken from several MS therapeutic trials (TT cohort)" . _:30e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19879194"; "Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score."; "PMID:19879194", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3099419/unicode"; rdfs:comment "This sample collection is therefore referred to as the Therapeutic Trial (TT) collection." . _:30e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with relapsing–remitting multiple sclerosis or a clinically isolated syndrome with MRI signs of demyelination, assembled by Bayer Schering Pharma from four of its clinical trials: three studies of interferon beta-1b (BENEFIT, BEYOND and the 16-year long-term follow-up of the pivotal interferon beta-1b trial in relapsing–remitting multiple sclerosis) and one of a CCR1 antagonist. It was genotyped genome-wide and used as multiple sclerosis cases in genetic studies of susceptibility."; "PMID:19879194", "PMID:22190364"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1340; "MS/CIS patients pooled from the Bayer Schering Pharma trials (cases in the 2009 validation set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3099419/"; rdfs:comment "Similarly, details on the first validation set that includes subjects assembled by Bayer Schering Pharma from its therapeutic trials include a total of 1340 cases (Table 1b)." . _:30eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1340; "MS/CIS patients pooled from the Bayer Schering Pharma trials (cases in the 2009 validation set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3099419/"; rdfs:comment "Similarly, details on the first validation set that includes subjects assembled by Bayer Schering Pharma from its therapeutic trials include a total of 1340 cases (Table 1b)." . _:30ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BayerScheringPharma"; . _:30ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TT"; . a owl:NamedIndividual, ; , ; "PMID:28817493"; "A birth cohort of mother–child pairs recruited at delivery in the 2000s from women with singleton pregnancies giving birth consecutively at the obstetrics department of the Charité university hospital in Berlin, Germany, with maternal blood, umbilical cord blood, placentas and birth measurements collected at birth. It is used to study maternal and fetal influences, including genetic ones, on birth weight, pregnancy outcomes and maternal physiology in pregnancy."; 2089; "BBC", "Berlin Birth Cohort study"; rdfs:label "Berlin Birth Cohort"@en . _:30ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6976643/fullTextXML"; rdfs:comment "The study was conducted in 1023 mothers with singleton pregnancies delivering at the Charité obstetrics department, Berlin, Germany from 2000 to 2008." . _:30ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28817493"; "DNA methylation of the glucocorticoid receptor gene promoter in the placenta is associated with blood pressure regulation in human pregnancy."; "PMID:28817493", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28817493+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study was performed as a nested case-control study (n = 80) out of 1045 mother/child pairs from the Berlin Birth Cohort." . _:30f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth cohort of mother–child pairs recruited at delivery in the 2000s from women with singleton pregnancies giving birth consecutively at the obstetrics department of the Charité university hospital in Berlin, Germany, with maternal blood, umbilical cord blood, placentas and birth measurements collected at birth. It is used to study maternal and fetal influences, including genetic ones, on birth weight, pregnancy outcomes and maternal physiology in pregnancy."; "PMID:17030683", "PMID:19696694", "PMID:29309628", "PMID:31954177", "PMID:31969597"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2089; "women (mother-child pairs) analysed in a 2009 study of the cohort; analysed subset, no whole-cohort total found"; "PMID:19696694"; rdfs:comment "Two thousand and eighty-nine (2089) Caucasian women without preexisting diabetes and preexisting hypertension with singleton pregnancies delivering consecutively at the Charité obstetrics department participated in this study." . _:30f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13671; , ; , ; "PMID:32424353"; "A UK case-control study of breast cancer, led by investigators at the Institute of Cancer Research and the London School of Hygiene and Tropical Medicine, which in 2001–2008 recruited women with bilateral breast cancer identified through English and Scottish cancer registries and breast cancer clinics, and clinic patients with breast cancer and at least two affected female first-degree relatives, together with controls who were friends or non-blood relatives of the cases. It is one of the studies of the Breast Cancer Association Consortium."; "The acronym BBCS also denotes Brescia Bladder Cancer Study (COHO:0000815) and Baltimore Breast Cancer Study (COHO:0001288); this term is British Breast Cancer Study."@en; 1695; 2001; "BBCS"; rdfs:label "British Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:30f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13671; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2655767/fullTextXML"; rdfs:comment "Peripheral blood DNA samples from a second set of 190 bilateral cases and 190 controls were obtained from the British Breast Cancer study (40,41)." . _:30f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4756509/fullTextXML"; rdfs:comment "All cases were genotyped with the iCOGS chip and compared to 5,000 UK controls selected from four UK studies (BBCS 1,231 controls, SBCS 704 controls, UKBGS 370 controls, SEARCH 2,695 controls) participating in BCAC" . _:30f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "British Breast Cancer Study" . _:30f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK case-control study of breast cancer, led by investigators at the Institute of Cancer Research and the London School of Hygiene and Tropical Medicine, which in 2001–2008 recruited women with bilateral breast cancer identified through English and Scottish cancer registries and breast cancer clinics, and clinic patients with breast cancer and at least two affected female first-degree relatives, together with controls who were friends or non-blood relatives of the cases. It is one of the studies of the Breast Cancer Association Consortium."; "PMID:16257342", "PMID:19153073", "PMID:22768030", "PMID:26884359", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:30f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1695; "analysed subset: cases and controls of white ancestry in a 2012 BBCS analysis; no total stated"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272480/"; rdfs:comment "For this analysis we included 1695 cases, 1564 of whom had two sequential or simultaneous primary breast cancers, and 131 of whom had at least two affected first degree relatives. The excess relative risk among cases with a second primary and those with two affected first degree relatives has been shown to be equivalent( 1 ) so the subsequent analysis assumes that all cases are bilateral. 2001 controls were ascertained as friends and non-blood relatives of the cases." . _:30f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2001; "analysed subset: cases and controls of white ancestry in a 2012 BBCS analysis; no total stated"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272480/"; rdfs:comment "For this analysis we included 1695 cases, 1564 of whom had two sequential or simultaneous primary breast cancers, and 131 of whom had at least two affected first degree relatives. The excess relative risk among cases with a second primary and those with two affected first degree relatives has been shown to be equivalent( 1 ) so the subsequent analysis assumes that all cases are bilateral. 2001 controls were ascertained as friends and non-blood relatives of the cases." . _:30f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCS"; . a owl:NamedIndividual, ; "PMID:39218908"; "A cohort of participants drawn from the customer base of Genomelink, a direct-to-consumer genetic-traits testing platform, who provided informed consent and completed surveys online as part of the Biobank of the Americas."; 8417; "BBofA", "BBofA-GL", "BbofA", "BbofA-GL", "Biobank of the Americas – GenomeLink"; rdfs:label "Biobank of the Americas-Genomelink"@en . _:30fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39218908"; "Polygenic risk score portability for common diseases across genetically diverse populations."; "PMID:39218908", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39218908+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Finally, we validated the selected PRS models using an independent set of 8,417 individuals from Biobank of the Americas-Genomelink (BbofA-GL); and performed a PRS-Phewas." . _:30fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of participants drawn from the customer base of Genomelink, a direct-to-consumer genetic-traits testing platform, who provided informed consent and completed surveys online as part of the Biobank of the Americas."; "PMID:39218908"; "Claude Sonnet 5 (Anthropic), 2026-09" . _:30fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8417; "BbofA-GL individuals used to validate PRS models (survey Aug 2022-Feb 2023)"; "PMID:39218908"; rdfs:comment "Finally, we validated the selected PRS models using an independent set of 8,417 individuals from Biobank of the Americas-Genomelink (BbofA-GL); and performed a PRS-Phewas." . _:30fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBofA"; . _:30fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBofA-GL"; . _:30ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BbofA"; . _:31002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BbofA-GL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13686; , ; ; "PMID:29674426"; "A population-based case-control study of non-Hodgkin lymphoma in British Columbia, Canada, which invited residents of Greater Vancouver and Greater Victoria aged 20–79 with non-Hodgkin lymphoma diagnosed from March 2000 to February 2004, identified through the BC Cancer Registry (excluding HIV-positive and post-transplant cases), together with population controls from the Client Registry of the British Columbia Ministry of Health frequency-matched to the cases on sex, age and area of residence, to study environmental and genetic risk factors for the disease."; 828; 848; "BC", "BCCA", "British Columbia Non-Hodgkin Lymphoma Study"; rdfs:label "British Columbia Non-Hodgkin Lymphoma study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13686 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13686; "non-Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2788526/fullTextXML"; rdfs:comment "All HIV-negative NHL cases diagnosed in British Columbia from March 2000 to February 2004, residing in the Greater Vancouver Regional District and greater Victoria (Capital Regional District), aged 20 to 79 were invited to participate." . _:31022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17722095+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated PCBs and organochlorine pesticides and risk of NHL in a population-based case-control study in British Columbia, Canada." . _:31032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29674426"; "Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis."; "PMID:29674426", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5992865/"; rdfs:comment "BC, British Columbia Non-Hodgkin Lymphoma study; ENGELA, Environmental and Genetic Risks Factors Study in Adult Lymphoma; EPILYMPH, European multi-center case–control study; MAYO, Mayo Clinic; NSW, New South Wales non-Hodgkin Lymphoma study; SCALE, Scandinavian Lymphoma Etiology study; UCSF2, University of California San Diego Molecular Epidemiology of non-Hodgkin Lymphoma study." . _:31042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of non-Hodgkin lymphoma in British Columbia, Canada, which invited residents of Greater Vancouver and Greater Victoria aged 20–79 with non-Hodgkin lymphoma diagnosed from March 2000 to February 2004, identified through the BC Cancer Registry (excluding HIV-positive and post-transplant cases), together with population controls from the Client Registry of the British Columbia Ministry of Health frequency-matched to the cases on sex, age and area of residence, to study environmental and genetic risk factors for the disease."; "PMID:17722095", "PMID:19917125", "PMID:26956414"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 828; "cases and controls who completed at least part of the study questionnaire; no total stated"; "PMID:19917125"; rdfs:comment "828 cases and 848 controls completed at least part of a study questionnaire; however, only those subjects with DNA available were used in this study." . _:31062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 848; "cases and controls who completed at least part of the study questionnaire; no total stated"; "PMID:19917125"; rdfs:comment "828 cases and 848 controls completed at least part of a study questionnaire; however, only those subjects with DNA available were used in this study." . _:31072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BC"; . _:31082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCCA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13695; , ; "PMID:33079599"; "A registry of people with clinically diagnosed heterozygous familial hypercholesterolaemia in British Columbia, Canada, based at the Healthy Heart Program Prevention Clinic of St. Paul's Hospital in Vancouver, which enrols clinic patients meeting the Dutch Lipid Clinic Network criteria, invites their relatives for evaluation and follows adult participants prospectively as an open observational cohort. Set up as the first such registry in Canada to improve the identification and management of the condition, it is also used to study its cardiovascular outcomes and genetic causes."; 339; "BCFH", "British Columbia Familial Hypercholesterolemia", "British Columbia Familial Hypercholesterolemia cohort"; rdfs:label "British Columbia Familial Hypercholesterolemia Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13695 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13695; "familial hypercholesterolemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7889287/supplementaryFiles"; rdfs:comment "The British Columbia Familial Hypercholesterolemia (BCFH) cohort is a prospective, longitudinal, open observational study of adults (≥18 years) with clinically diagnosed heterozygous familial hypercholesterolemia (FH) in the Canadian province of British Columbia, Canada." . _:310a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7889287/supplementaryFiles"; rdfs:comment "The British Columbia Familial Hypercholesterolemia (BCFH) cohort is a prospective, longitudinal, open observational study of adults (≥18 years) with clinically diagnosed heterozygous familial hypercholesterolemia (FH) in the Canadian province of British Columbia, Canada." . _:310b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33079599"; "Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia."; "PMID:33079599", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7889287/supplementaryFiles"; rdfs:comment "The British Columbia Familial Hypercholesterolemia (BCFH) cohort is a prospective, longitudinal, open observational study of adults (≥18 years) with clinically diagnosed heterozygous familial hypercholesterolemia (FH) in the Canadian province of British Columbia, Canada." . _:310c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of people with clinically diagnosed heterozygous familial hypercholesterolaemia in British Columbia, Canada, based at the Healthy Heart Program Prevention Clinic of St. Paul's Hospital in Vancouver, which enrols clinic patients meeting the Dutch Lipid Clinic Network criteria, invites their relatives for evaluation and follows adult participants prospectively as an open observational cohort. Set up as the first such registry in Canada to improve the identification and management of the condition, it is also used to study its cardiovascular outcomes and genetic causes."; "PMID:27931859", "PMID:33079599", "PMID:39987058", "https://bcmj.org/articles/british-columbia-familial-hypercholesterolemia-registry"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:310d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 339; "patients with clinically diagnosed HeFH recruited (2016 report)"; "PMID:27931859"; rdfs:comment "We recruited 339 patients with clinically diagnosed HeFH, with a total of 3700 person-years of follow-up." . _:310e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13702, _:genid-371333f489424440b12a13b9d98ced822608-genid13704; , ; ; "PMID:32665703"; "The New York site of the Breast Cancer Family Registry, known as the Metropolitan New York Registry and run from Columbia University in New York City, which from 1995 enrolled families with breast or ovarian cancer through clinical and community settings in the New York metropolitan area (New York, New Jersey and Connecticut), including Ashkenazi Jewish and minority families, when a woman had breast or ovarian cancer before age 45 or both cancers, a man had breast cancer, several relatives were affected or a BRCA1 or BRCA2 mutation was known. Affected and unaffected probands and their relatives gave family-history and epidemiological questionnaires and blood samples and are contacted annually for follow-up, for studies of the genetic epidemiology of breast cancer."; 4004; "BCFR-NY", "MNYR", "Metropolitan NY Registry", "Metropolitan New York Registry", "Metropolitan New York Registry of Breast Cancer Families", "New York Site of the Breast Cancer Family Registry", "New York site of the Breast Cancer Family Registry"; rdfs:label "New York Breast Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13702 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13704 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:310f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13702; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1064100/fullTextXML"; rdfs:comment "These nuclear families were selected from breast cancer families participating in the Metropolitan New York Registry, one of the six centers of the National Cancer Institute's Breast Cancer Family Registry." . _:31102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13704; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1064100/fullTextXML"; rdfs:comment "These nuclear families were selected from breast cancer families participating in the Metropolitan New York Registry, one of the six centers of the National Cancer Institute's Breast Cancer Family Registry." . _:31112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Clinic-based families, including those of Ashkenazi Jewish ancestry, were recruited from their local populations in the USA by Columbia University in New York City, New York, the Fox Chase Cancer Center in Philadelphia, Pennsylvania, and Huntsman Cancer Institute at the University of Utah in Salt Lake City, Utah; and in Australia by the University of Melbourne and New South Wales Cancer Council in Melbourne and Sydney, Australia." . _:31122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1064100/fullTextXML"; rdfs:comment "These nuclear families were selected from breast cancer families participating in the Metropolitan New York Registry, one of the six centers of the National Cancer Institute's Breast Cancer Family Registry." . _:31132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32665703"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/supplementaryFiles"; rdfs:comment "New York site of the Breast Cancer Family Registry (BCFR-NY) - Columbia University Medical Center Institutional Review Board" . _:31142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The New York site of the Breast Cancer Family Registry, known as the Metropolitan New York Registry and run from Columbia University in New York City, which from 1995 enrolled families with breast or ovarian cancer through clinical and community settings in the New York metropolitan area (New York, New Jersey and Connecticut), including Ashkenazi Jewish and minority families, when a woman had breast or ovarian cancer before age 45 or both cancers, a man had breast cancer, several relatives were affected or a BRCA1 or BRCA2 mutation was known. Affected and unaffected probands and their relatives gave family-history and epidemiological questionnaires and blood samples and are contacted annually for follow-up, for studies of the genetic epidemiology of breast cancer."; "PMID:11018378", "PMID:15217505", "PMID:15642171", "PMID:26174520", "PMID:29244822", "https://www.bcfamilyregistry.org/for-participants/participating-sites"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4004; "individuals enrolled at the New York site (1996-2011)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5731703/"; rdfs:comment "The New York site enrolled 4004 individuals, of which 1139 women were affected with breast cancer at baseline and eligible for this analysis." . _:31162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-NY"; . _:31172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MNYR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13713, _:genid-371333f489424440b12a13b9d98ced822608-genid13715; , ; ; "PMID:32665703"; "The Philadelphia site of the Breast Cancer Family Registry, run from Fox Chase Cancer Center in Philadelphia, Pennsylvania, which from 1996 enrolled families with breast or ovarian cancer through family cancer clinics and community outreach in the Philadelphia area, including Ashkenazi Jewish and minority families, when a woman had breast or ovarian cancer before age 35, both cancers, or bilateral breast cancer first diagnosed before 50, a man had breast cancer, affected relatives spanned two generations or a BRCA1 or BRCA2 mutation was known. Affected and unaffected probands and their relatives gave family-history and epidemiological questionnaires and blood samples and are contacted annually for follow-up, for studies of the genetic epidemiology of breast cancer."; 780; "BCFR-PA", "Philadelphia site of the Breast Cancer Family Registry"; rdfs:label "Philadelphia Breast Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13713 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13715 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13713; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Four sites enrolled families with multiple or early-onset cases of breast or ovarian cancer identified through community contacts and clinical settings including screening centers, family cancer clinics, surgical and medical oncology offices, and the Australian twin registry." . _:31192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13715; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Four sites enrolled families with multiple or early-onset cases of breast or ovarian cancer identified through community contacts and clinical settings including screening centers, family cancer clinics, surgical and medical oncology offices, and the Australian twin registry." . _:311a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Clinic-based families, including those of Ashkenazi Jewish ancestry, were recruited from their local populations in the USA by Columbia University in New York City, New York, the Fox Chase Cancer Center in Philadelphia, Pennsylvania, and Huntsman Cancer Institute at the University of Utah in Salt Lake City, Utah; and in Australia by the University of Melbourne and New South Wales Cancer Council in Melbourne and Sydney, Australia." . _:311b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "BCFR Breast Cancer Family Registry USA, Canada, Australia BCFR-NY New York site of the Breast Cancer Family Registry BCFR-PA Philadelphia site of the Breast Cancer Family Registry BCFR-UTAH Utah site of the Breast Cancer Family Registry" . _:311c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32665703"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/supplementaryFiles"; rdfs:comment "Philadelphia site of the Breast Cancer Family Registry (BCFR-PA) - Institutional Review Board Fox Chase Cancer Center" . _:311d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Philadelphia site of the Breast Cancer Family Registry, run from Fox Chase Cancer Center in Philadelphia, Pennsylvania, which from 1996 enrolled families with breast or ovarian cancer through family cancer clinics and community outreach in the Philadelphia area, including Ashkenazi Jewish and minority families, when a woman had breast or ovarian cancer before age 35, both cancers, or bilateral breast cancer first diagnosed before 50, a man had breast cancer, affected relatives spanned two generations or a BRCA1 or BRCA2 mutation was known. Affected and unaffected probands and their relatives gave family-history and epidemiological questionnaires and blood samples and are contacted annually for follow-up, for studies of the genetic epidemiology of breast cancer."; "PMID:15217505", "PMID:26174520", "https://www.bcfamilyregistry.org/for-participants/participating-sites"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:311e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 780; "probands (index family members) recruited at the Philadelphia site 1996-2003; relatives not included"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC468645/"; rdfs:comment "Total probands 2927 4766 2160 1134 780 183 11,950" . _:311f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-PA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13723, _:genid-371333f489424440b12a13b9d98ced822608-genid13725; , ; ; "PMID:29058716"; "The Utah site of the Breast Cancer Family Registry, run from the Huntsman Cancer Institute at the University of Utah in Salt Lake City, which from 1996 enrolled families with breast or ovarian cancer through family cancer clinics and community outreach in the Salt Lake City area, and later further families carrying BRCA1 or BRCA2 mutations, when a woman had breast or ovarian cancer before age 45 or both cancers, a man had breast cancer, three relatives in two generations were affected (one before age 45) or a BRCA1 or BRCA2 mutation was known. Affected and unaffected probands and their relatives gave family-history and epidemiological questionnaires and blood samples and are followed up by annual contact and by linkage to population-based cancer registries, for studies of the genetic epidemiology of breast cancer."; 183; "BCFR-UT", "BCFR-UTAH", "Utah Cooperative Breast Cancer Registry", "Utah site of the Breast Cancer Family Registry"; rdfs:label "Utah Breast Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13723 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13725 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13723; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Four sites enrolled families with multiple or early-onset cases of breast or ovarian cancer identified through community contacts and clinical settings including screening centers, family cancer clinics, surgical and medical oncology offices, and the Australian twin registry." . _:31212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13725; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Four sites enrolled families with multiple or early-onset cases of breast or ovarian cancer identified through community contacts and clinical settings including screening centers, family cancer clinics, surgical and medical oncology offices, and the Australian twin registry." . _:31222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC468645/fullTextXML"; rdfs:comment "Clinic-based families, including those of Ashkenazi Jewish ancestry, were recruited from their local populations in the USA by Columbia University in New York City, New York, the Fox Chase Cancer Center in Philadelphia, Pennsylvania, and Huntsman Cancer Institute at the University of Utah in Salt Lake City, Utah; and in Australia by the University of Melbourne and New South Wales Cancer Council in Melbourne and Sydney, Australia." . _:31232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "BCFR Breast Cancer Family Registry USA, Canada, Australia BCFR-NY New York site of the Breast Cancer Family Registry BCFR-PA Philadelphia site of the Breast Cancer Family Registry BCFR-UTAH Utah site of the Breast Cancer Family Registry" . _:31242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM2_ESM.xlsx"; rdfs:comment "Utah site of the Breast Cancer Family Registry BCFR-UT" . _:31252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Utah site of the Breast Cancer Family Registry, run from the Huntsman Cancer Institute at the University of Utah in Salt Lake City, which from 1996 enrolled families with breast or ovarian cancer through family cancer clinics and community outreach in the Salt Lake City area, and later further families carrying BRCA1 or BRCA2 mutations, when a woman had breast or ovarian cancer before age 45 or both cancers, a man had breast cancer, three relatives in two generations were affected (one before age 45) or a BRCA1 or BRCA2 mutation was known. Affected and unaffected probands and their relatives gave family-history and epidemiological questionnaires and blood samples and are followed up by annual contact and by linkage to population-based cancer registries, for studies of the genetic epidemiology of breast cancer."; "PMID:15217505", "PMID:26174520", "PMID:26538066", "https://www.bcfamilyregistry.org/for-participants/participating-sites"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 183; "probands (index family members) recruited at the Utah site 1996-2003; relatives not included"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC468645/"; rdfs:comment "Total probands 2927 4766 2160 1134 780 183 11,950" . _:31272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-UT"; . _:31282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCFR-UTAH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13734, _:genid-371333f489424440b12a13b9d98ced822608-genid13736; , ; "PMID:12791629"; "A cohort of children born consecutively from March 1972 to October 1974 in the towns of Barry and Caerphilly, South Wales, whose mothers were recruited early in pregnancy through general practitioners into a randomised controlled trial, set up in 1972 by the Medical Research Council Epidemiology Unit (South Wales) and the Welsh National School of Medicine in Cardiff, of milk tokens for pregnant women and their children up to five years of age, with the children examined by trained nurses at intervals from birth to five years. The children who completed the trial were traced and re-examined at 23–27 years of age in 1997–1999 to study how birth size, infant feeding, early growth and childhood illness relate to adult blood pressure, adiposity, insulin resistance, haemostatic factors and lung function."; 1163; "BCG", "Barry Caerphilly Growth study", "Barry-Caerphilly Growth Study"; rdfs:label "Barry Caerphilly Growth Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13734 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13736 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13734; "milk supplementation in pregnancy and early childhood"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7030223+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Throughout the entire period of the study half the families, selected at random, were supplied with milk tokens entitling the mother, while pregnant, and all children under age 5 years, to 1 pint of milk a day at half its current price." . _:312a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13736; "infant feeding (breast milk, formula and cows' milk)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7030223+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Throughout the entire period of the study half the families, selected at random, were supplied with milk tokens entitling the mother, while pregnant, and all children under age 5 years, to 1 pint of milk a day at half its current price." . _:312b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17921364+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a longitudinal study of young adults from Barry and Caerphilly, United Kingdom, who had previously taken part between 1972 and 1974 in a randomized controlled trial of milk supplementation." . _:312c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12791629"; "Infant nutrition and blood pressure in early adulthood: the Barry Caerphilly Growth study."; "PMID:12791629", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12791629+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a long-term follow-up (1997-1999) of the Barry Caerphilly Growth study cohort (1972-1974) into which mothers and their offspring had originally been randomly assigned to receive a milk supplement or usual care." . _:312d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of children born consecutively from March 1972 to October 1974 in the towns of Barry and Caerphilly, South Wales, whose mothers were recruited early in pregnancy through general practitioners into a randomised controlled trial, set up in 1972 by the Medical Research Council Epidemiology Unit (South Wales) and the Welsh National School of Medicine in Cardiff, of milk tokens for pregnant women and their children up to five years of age, with the children examined by trained nurses at intervals from birth to five years. The children who completed the trial were traced and re-examined at 23–27 years of age in 1997–1999 to study how birth size, infant feeding, early growth and childhood illness relate to adult blood pressure, adiposity, insulin resistance, haemostatic factors and lung function."; "PMID:12791629", "PMID:17921364", "PMID:22479550", "PMID:23790346", "PMID:7030223"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:312e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1163; "infants born March 1972-October 1974 in the milk-token trial"; "PMID:22479550"; rdfs:comment "The Barry Caerphilly Growth (BCG) cohort study is a long-term follow-up of a randomized controlled trial of 1,163 infants born consecutively between March 1972 and October 1974 in two populations from the towns of Barry and Caerphilly in South Wales [15]." . _:312f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13743; , ; ; "PMID:20567021"; "A population-based case-control study of breast cancer in northern Israel, conducted by the Clalit National Cancer Control Center in Haifa with family medicine, surgery, pathology and oncology teams across the region, which since January 2000 has enrolled consecutively diagnosed breast cancer patients living in a defined area of northern Israel and cancer-free controls randomly selected from the Clalit Health Services register of insured people in the same area, matched on age, ethnic group and primary care clinic. Participants are interviewed about their medical history, medication use and health habits and give a blood sample, for studies of breast cancer risk factors, including genetic ones."; 11608; "BCINIS", "Breast Cancer In Northern Israel Study"; rdfs:label "Breast Cancer in Northern Israel Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13743; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20567021+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Breast Cancer in Northern Israel Study is a population-based case-control study in northern Israel of patients with breast cancer and age-, clinic-, and ethnic-group matched controls." . _:31312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20567021+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Breast Cancer in Northern Israel Study is a population-based case-control study in northern Israel of patients with breast cancer and age-, clinic-, and ethnic-group matched controls." . _:31322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20567021"; "Use of bisphosphonates and risk of postmenopausal breast cancer."; "PMID:20567021", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20567021+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Breast Cancer in Northern Israel Study is a population-based case-control study in northern Israel of patients with breast cancer and age-, clinic-, and ethnic-group matched controls." . _:31332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer in northern Israel, conducted by the Clalit National Cancer Control Center in Haifa with family medicine, surgery, pathology and oncology teams across the region, which since January 2000 has enrolled consecutively diagnosed breast cancer patients living in a defined area of northern Israel and cancer-free controls randomly selected from the Clalit Health Services register of insured people in the same area, matched on age, ethnic group and primary care clinic. Participants are interviewed about their medical history, medication use and health habits and give a blood sample, for studies of breast cancer risk factors, including genetic ones."; "PMID:20567021", "PMID:21952991", "PMID:29324747", "PMID:37451831"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11608; "BCINIS participants (cases and controls) in a 2018 analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5764256/"; rdfs:comment "Data from two large prospective population-based case-control studies, the Molecular Epidemiology of Colorectal Cancer (MECC, n = 8,383) and the Breast Cancer in Northern Israel Study (BCINIS, n = 11,608), were used to better understand the nature and temporality of a possible association between cancer diagnosis and AF events before and after cancer diagnosis." . _:31352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCINIS"; . a owl:NamedIndividual, ; ; "PMID:27346685"; "An international consortium of cohort studies and biobanks, organised in red blood cell, white blood cell and platelet working groups, that meta-analyses genetic associations with blood-cell counts and indices in participants of European, African, Hispanic/Latino, East Asian and South Asian ancestry, first with exome-array genotypes and later (its second phase, BCX2) with genome-wide imputed data, to identify common and rare variants that influence blood-cell traits."; 746667; "BCX", "Blood Cell Consortium"; rdfs:label "Blood-Cell Consortium"@en . _:31362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5005441/"; rdfs:comment "Platelet Function Exomechip Two BCX cohorts, GeneSTAR and the Framingham Heart Study (FHS), measured platelet aggregation in a subset of genotyped participants." . _:31372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27346685"; "Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits."; "PMID:27346685", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5005438/"; rdfs:comment "The Blood-Cell Consortium (BCX) aims to identify novel common and rare variants associated with blood-cell traits using an exome array." . _:31382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of cohort studies and biobanks, organised in red blood cell, white blood cell and platelet working groups, that meta-analyses genetic associations with blood-cell counts and indices in participants of European, African, Hispanic/Latino, East Asian and South Asian ancestry, first with exome-array genotypes and later (its second phase, BCX2) with genome-wide imputed data, to identify common and rare variants that influence blood-cell traits."; "PMID:27346685", "PMID:27346686", "PMID:34925446"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 746667; "individuals in the second-phase (BCX2) trans-ethnic GWAS of blood-cell traits (2020)"; "PMID:34925446"; rdfs:comment "BCX2 is a consortium comprising of trans-ethnic data of blood cell traits of 746,667 individuals from five different ancestries." . _:313a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCX"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13755; , ; ; "PMID:40101186"; "A single-centre case-control study of endometrial cancer at the University Hospital Erlangen in Bavaria, Germany, conducted between 2002 and 2008 to investigate genetic and epidemiological risk factors for endometrial cancer, whose cases were incident cases referred to the hospital by surrounding practitioners or prevalent cases approached during follow-up care after treatment there for primary endometrial cancer, with epidemiological information from a structured interview questionnaire and clinical data from health records."; 221; 221; "BECS", "Bavarian Endometrial Cancer Study"; rdfs:label "Bavarian Endometrial Cancer Cases and Controls Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13755 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:313b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13755; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "Replication analysis in the German population included 221 cases from the Bavarian Endometrial Cancer Study (BECS) and 251 healthy controls aged 55 years and older from the Bavarian Breast Cancer Cases and Controls (BBCC)." . _:313c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "Replication analysis in the German population included 221 cases from the Bavarian Endometrial Cancer Study (BECS) and 251 healthy controls aged 55 years and older from the Bavarian Breast Cancer Cases and Controls (BBCC)." . _:313d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40101186"; "A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk."; "PMID:40101186", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "Replication analysis in the German population included 221 cases from the Bavarian Endometrial Cancer Study (BECS) and 251 healthy controls aged 55 years and older from the Bavarian Breast Cancer Cases and Controls (BBCC)." . _:313e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre case-control study of endometrial cancer at the University Hospital Erlangen in Bavaria, Germany, conducted between 2002 and 2008 to investigate genetic and epidemiological risk factors for endometrial cancer, whose cases were incident cases referred to the hospital by surrounding practitioners or prevalent cases approached during follow-up care after treatment there for primary endometrial cancer, with epidemiological information from a structured interview questionnaire and clinical data from health records."; "PMID:27135401"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:313f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 221; "analysed subset: BECS endometrial cancer cases genotyped on OncoArray and used in a 2025 replication (its controls came from BBCC)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13537468/"; rdfs:comment "Replication analysis in the German population included 221 cases from the Bavarian Endometrial Cancer Study (BECS) and 251 healthy controls aged 55 years and older from the Bavarian Breast Cancer Cases and Controls (BBCC)." . _:31402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 221; "analysed subset: BECS endometrial cancer cases genotyped on OncoArray and used in a 2025 replication (its controls came from BBCC)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13537468/"; rdfs:comment "Replication analysis in the German population included 221 cases from the Bavarian Endometrial Cancer Study (BECS) and 251 healthy controls aged 55 years and older from the Bavarian Breast Cancer Cases and Controls (BBCC)." . _:31412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BECS"; . a owl:NamedIndividual, ; , ; "PMID:11470126"; "A longitudinal study of ageing by the Belfast Longevity Group of Queen's University Belfast, Northern Ireland, of 'elite' octogenarians and nonagenarians, and some centenarians: community-living, apparently well, independently mobile and mentally competent people recruited through their general practitioners in the Greater Belfast area and seen at home by a research nurse, who took their medical history, anthropometric and blood pressure measurements and blood samples for DNA and laboratory tests, with nutrition and lifestyle questionnaires, to study the immunological, cardiovascular, nutritional and genetic factors of healthy ageing and longevity."; 500; "BELFAS", "BELFAST", "BELFAST study", "Belfast Elderly Longitudinal Free-living Ageing STudy", "Belfast Elderly Longitudinal Free-living Aging STudy", "Belfast Elderly Longitudinal Free-living Aging Study"; rdfs:label "Belfast Elderly Longitudinal Free-living Ageing Study"@en . _:31422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4552771/fullTextXML"; rdfs:comment "In the BELFAST study, 90 year old subjects, who were ‘very good’ for their age, also called ‘elite’ and met the Senieur protocol (Lightart et al. 1984), were recruited through their General Practitioners, from the Greater Belfast area." . _:31432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:11470126"; "Apolipoprotein E alleles in nonagenarian subjects in the Belfast Elderly Longitudinal Free-living Ageing Study (BELFAST)."; "PMID:11470126", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11470126+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Apolipoprotein E alleles in nonagenarian subjects in the Belfast Elderly Longitudinal Free-living Ageing Study (BELFAST)." . _:31442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of ageing by the Belfast Longevity Group of Queen's University Belfast, Northern Ireland, of 'elite' octogenarians and nonagenarians, and some centenarians: community-living, apparently well, independently mobile and mentally competent people recruited through their general practitioners in the Greater Belfast area and seen at home by a research nurse, who took their medical history, anthropometric and blood pressure measurements and blood samples for DNA and laboratory tests, with nutrition and lifestyle questionnaires, to study the immunological, cardiovascular, nutritional and genetic factors of healthy ageing and longevity."; "PMID:19496022", "PMID:20388089", "PMID:20507630", "PMID:25773008"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 500; "'elite' 90-year-old subjects recruited through GPs (approximate)"; "PMID:20507630"; rdfs:comment "In the BELFAST study, 90 year old subjects, who are 'very good' for their age, also called 'elite' (approximately 500), were recruited through their General Practitioners, from the Greater Belfast area [1,2]." . _:31462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BELFAS"; . _:31472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BELFAST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13769; , ; ; "PMID:24958192"; "A case-control cohort for genetic studies of Alzheimer's disease, drawn from a prospective study of Alzheimer's disease in Flanders, Belgium, whose genetic studies are run from the University of Antwerp: unrelated patients with early- or late-onset possible or probable Alzheimer's disease, diagnosed by consensus of at least two neurologists at the memory clinics of the Hospital Network Antwerp (Middelheim and Hoge Beuken) and the University Hospitals Leuven and at other neurology centres of the Belgian Neurology (BELNEU) consortium, and healthy unrelated control individuals from Belgium, patients' partners or community volunteers, with blood samples for DNA, cell lines and plasma and, for some patients, cerebrospinal fluid biomarkers."; 1263; 1107; 2370; "Belgium_AD", "Flanders-Belgian study cohort"; rdfs:label "Flanders-Belgian AD cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13769 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13769; "Alzheimer's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4370231/unicode"; rdfs:comment "The Flanders-Belgian study cohort (Belgium_AD, n = 2370), was ascertained in the frame of a prospective study of AD, as previously described in." . _:31492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01024-z/MediaObjects/41588_2022_1024_MOESM1_ESM.pdf"; rdfs:comment "The patients were ascertained at the memory clinic of Middelheim and Hoge Beuken (Hospital Network Antwerp, Belgium) and at the memory clinic of the University Hospitals of Leuven, Belgium." . _:314a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24958192"; "Genome-wide association interaction analysis for Alzheimer's disease."; "PMID:24958192", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4370231/unicode"; rdfs:comment "The Flanders-Belgian study cohort (Belgium_AD, n = 2370), was ascertained in the frame of a prospective study of AD, as previously described in." . _:314b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control cohort for genetic studies of Alzheimer's disease, drawn from a prospective study of Alzheimer's disease in Flanders, Belgium, whose genetic studies are run from the University of Antwerp: unrelated patients with early- or late-onset possible or probable Alzheimer's disease, diagnosed by consensus of at least two neurologists at the memory clinics of the Hospital Network Antwerp (Middelheim and Hoge Beuken) and the University Hospitals Leuven and at other neurology centres of the Belgian Neurology (BELNEU) consortium, and healthy unrelated control individuals from Belgium, patients' partners or community volunteers, with blood samples for DNA, cell lines and plasma and, for some patients, cerebrospinal fluid biomarkers."; "PMID:21403675", "PMID:24958192", "PMID:35379992", "PMID:40078479"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:314c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1263; "Belgian AD patients and controls in a 2014 genetic analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4370231/"; rdfs:comment "The Flanders-Belgian study cohort (Belgium_AD, n = 2370), was ascertained in the frame of a prospective study of AD, as previously described in Bettens et al." . _:314d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1107; "Belgian AD patients and controls in a 2014 genetic analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4370231/"; rdfs:comment "The Flanders-Belgian study cohort (Belgium_AD, n = 2370), was ascertained in the frame of a prospective study of AD, as previously described in Bettens et al." . _:314e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2370; "Belgian AD patients and controls in a 2014 genetic analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4370231/"; rdfs:comment "The Flanders-Belgian study cohort (Belgium_AD, n = 2370), was ascertained in the frame of a prospective study of AD, as previously described in Bettens et al." . _:314f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Belgium_AD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13778; , ; ; "PMID:15539711"; "A family study begun in 1994 at Brigham and Women's Hospital, Boston, to find genetic determinants of chronic obstructive pulmonary disease other than alpha-1 antitrypsin deficiency, which enrols extended pedigrees, mainly in New England, ascertained through probands with severe COPD (FEV1 at most 40% predicted) before age 53 and without severe alpha-1 antitrypsin deficiency, recruited from lung transplant and general pulmonary clinics, together with their first- and second-degree relatives aged 10 years or older."; 139; "BECOPD", "BEOCOPD", "Boston Early-Onset COPD population", "Boston Early-Onset COPD study", "Boston Early-Onset Chronic Obstructive Pulmonary Disease study"; rdfs:label "Boston Early-Onset COPD Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13778 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13778; "chronic obstructive pulmonary disease"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000946.v1.p1"; rdfs:comment "This study has enrolled subjects with severe COPD (forced expiratory volume in one second (FEV1) < 40% predicted) at an early age (< 53 years) without alpha-1 antitrypsin deficiency (a known Mendelian risk factor for COPD)." . _:31512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:15539711"; "Predictors of survival in severe, early onset COPD."; "PMID:15539711", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15539711+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort of 139 probands in the Boston Early-Onset COPD Study was recruited from lung transplant and general pulmonary clinics between September 1994 and July 2002." . _:31522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study begun in 1994 at Brigham and Women's Hospital, Boston, to find genetic determinants of chronic obstructive pulmonary disease other than alpha-1 antitrypsin deficiency, which enrols extended pedigrees, mainly in New England, ascertained through probands with severe COPD (FEV1 at most 40% predicted) before age 53 and without severe alpha-1 antitrypsin deficiency, recruited from lung transplant and general pulmonary clinics, together with their first- and second-degree relatives aged 10 years or older."; "PMID:15539711", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000946.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 139; "probands with severe early-onset COPD recruited 1994-2002; their enrolled relatives not included"; "PMID:15539711"; rdfs:comment "The cohort of 139 probands in the Boston Early-Onset COPD Study was recruited from lung transplant and general pulmonary clinics between September 1994 and July 2002." . _:31542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BECOPD"; . _:31552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEOCOPD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13785, _:genid-371333f489424440b12a13b9d98ced822608-genid13787, _:genid-371333f489424440b12a13b9d98ced822608-genid13789; , , ; "PMID:25133637"; "A population-based, 2×2 factorial, double-blind randomised controlled chemoprevention trial in Bangladesh that enrolled adults with manifest arsenical skin lesions from the Narayanganj, Comilla, Noakhali and Chandpur districts, through field offices in Araihazar and Matlab, between April 2006 and August 2009, and gave them vitamin E (alpha-tocopherol), selenium (L-selenomethionine), both or placebo for six years to test the prevention of non-melanoma skin cancer, with all-cause and cancer mortality, diabetes and oxidative stress biomarkers as secondary endpoints."; "The acronym BEST also denotes Black Women with Breast Cancer: Etiology, Survival, and Treatment Outcomes Study (COHO:0001525); this term is Bangladesh Vitamin E and Selenium Trial."@en; 7000; "BEST"; rdfs:label "Bangladesh Vitamin E and Selenium Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13785 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13787 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13789 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13785; "non-melanoma skin cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23590571+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Bangladesh Vitamin E and Selenium Trial is a 2 × 2 full factorial, double-blind, randomized controlled trial of 7000 adults having manifest arsenical skin lesions evaluating the efficacy of 6-year supplementation with alpha-tocopherol (100 mg daily) and L-selenomethionine (200 μg daily) for the prevention of nonmelanoma skin cancer." . _:31572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13787; "chronic arsenic exposure through drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136799/fullTextXML"; rdfs:comment "The Bangladesh Vitamin E and Selenium Trial (BEST) [28] was established in Araihazar and surrounding areas in 2006 to determine whether 7,000 arsenic-exposed participants who supplemented their diet with vitamin E and selenium would reduce their rate of non-melanoma skin cancer." . _:31582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13789; "arsenical skin lesions (visible arsenic toxicity)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136799/fullTextXML"; rdfs:comment "The Bangladesh Vitamin E and Selenium Trial (BEST) [28] was established in Araihazar and surrounding areas in 2006 to determine whether 7,000 arsenic-exposed participants who supplemented their diet with vitamin E and selenium would reduce their rate of non-melanoma skin cancer." . _:31592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23590571+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study reports on the design, methods and baseline analyses from the Bangladesh Vitamin E and Selenium Trial (BEST), a population-based chemoprevention study conducted among adults in Bangladesh with visible arsenic toxicity." . _:315a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25133637"; "Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults."; "PMID:25133637", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136799/fullTextXML"; rdfs:comment "The Bangladesh Vitamin E and Selenium Trial (BEST) [28] was established in Araihazar and surrounding areas in 2006 to determine whether 7,000 arsenic-exposed participants who supplemented their diet with vitamin E and selenium would reduce their rate of non-melanoma skin cancer." . _:315b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, 2×2 factorial, double-blind randomised controlled chemoprevention trial in Bangladesh that enrolled adults with manifest arsenical skin lesions from the Narayanganj, Comilla, Noakhali and Chandpur districts, through field offices in Araihazar and Matlab, between April 2006 and August 2009, and gave them vitamin E (alpha-tocopherol), selenium (L-selenomethionine), both or placebo for six years to test the prevention of non-melanoma skin cancer, with all-cause and cancer mortality, diabetes and oxidative stress biomarkers as secondary endpoints."; "PMID:23590571"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:315c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7000; "participants randomised (enrolled April 2006-August 2009)"; "PMID:23590571"; rdfs:comment "There were 7,000 participants enrolled in the trial between April 2006 and August 2009." . _:315d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13796; , ; "PMID:41629673"; "A population-based longitudinal cohort of self-identified Black women diagnosed with invasive breast cancer at age 50 or younger, identified through the state cancer registries of Florida and Tennessee (diagnoses from 2005 to 2018; its first phase recruited women diagnosed in Florida in 2009–2012), who completed a questionnaire on sociodemographic, reproductive, epidemiologic and lifestyle factors, released their medical records and tumour tissue and gave saliva for germline genetic testing, now based at Vanderbilt University Medical Center, to study the causes, inherited predisposition, treatment and survival of breast cancer, including triple-negative breast cancer, in young Black women."; "The acronym BEST also denotes Bangladesh Vitamin E and Selenium Trial (COHO:0001524); this term is Black Women with Breast Cancer: Etiology, Survival, and Treatment Outcomes Study."@en; 785; "BEST", "BEST study", "BEST_Florida", "Black Women: Etiology and Survival of Triple-Negative Breast Cancer study", "Black Women: Etiology and Survival of Triple-negative Breast Cancers (BEST) Study", "Black Women: Etiology and Survival of Triple-negative Breast Cancers Study", "The Black Women: Etiology and Survival of Triple-Negative Breast Cancers (BEST) Study"; rdfs:label "Black Women with Breast Cancer: Etiology, Survival, and Treatment Outcomes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13796 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:315e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13796; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13244119/fullTextXML"; rdfs:comment "Black women diagnosed with invasive breast cancer at age 50 years or younger between 2005 and 2018 were recruited through the state cancer registries in Florida and Tennessee." . _:315f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12686358/fullTextXML"; rdfs:comment "Women were recruited through state cancer registries in Florida and Tennessee, spoke English, and were alive at the time of recruitment." . _:31602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41629673"; "Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry."; "PMID:41629673", "https://europepmc.org/api/getPdf?pmcid=PMC13007722"; rdfs:comment "We additionally performed external validation of PRS models for each of the four BC phenotypes in an independent combined dataset of women of African ancestry (580 cases and 3,011 controls) from three studies of women of African ancestry including The Vanderbilt Biobank (BioVU),42,43 Black Women: Etiology and Survival of Triple-negative Breast Cancers (BEST) Study,44 and the Women Firefighters Biomonitoring Collaborative (WFBC).45" . _:31612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of self-identified Black women diagnosed with invasive breast cancer at age 50 or younger, identified through the state cancer registries of Florida and Tennessee (diagnoses from 2005 to 2018; its first phase recruited women diagnosed in Florida in 2009–2012), who completed a questionnaire on sociodemographic, reproductive, epidemiologic and lifestyle factors, released their medical records and tumour tissue and gave saliva for germline genetic testing, now based at Vanderbilt University Medical Center, to study the causes, inherited predisposition, treatment and survival of breast cancer, including triple-negative breast cancer, in young Black women."; "PMID:26287763", "PMID:33947654", "PMID:41360000", "PMID:42252839"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 785; "BEST participants in the parent study (Black women diagnosed 2005-2018 at age 50 or younger)"; "PMID:41360000"; rdfs:comment "For the present retrospective cohort analysis, of the 785 BEST participants in the parent study, we excluded women missing data on stage at diagnosis (n = 30), those with stage IV disease at diagnosis (n = 27), with bilateral breast cancer (n = 36), those missing timing of genetic testing (n = 45), or missing timing of surgery (n = 14) yielding a final analytic sample of 633." . _:31632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEST"; . _:31642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEST_Florida"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13804, _:genid-371333f489424440b12a13b9d98ced822608-genid13806; , , ; ; "PMID:32665703"; "A collection of carriers of BRCA1 and BRCA2 pathogenic variants from families seen in clinical cancer genetics services in Lithuania and Latvia, gathered by a collaboration of Lithuanian (BFBOCC-LT) and Latvian (BFBOCC-LV) hereditary breast and ovarian cancer research groups and contributed as one study to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, for studies of genetic modifiers of cancer risk in carriers."; "BFBOCC", "Baltic Familial Breast Ovarian Cancer Consortium"; rdfs:label "Baltic Familial Breast and Ovarian Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13804 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13806 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13804; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34320204+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)." . _:31662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13806; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34320204+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)." . _:31672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8755508/supplementaryFiles"; rdfs:comment "BFBOCC Latvia/Lithuania" . _:31682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32665703"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/supplementaryFiles"; rdfs:comment "Baltic Familial Breast and Ovarian Cancer Consortium (BFBOCC) - Centrālā medicīnas ētikas Komiteja; Lietuvos Bioetikos Komitetas;" . _:31692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of carriers of BRCA1 and BRCA2 pathogenic variants from families seen in clinical cancer genetics services in Lithuania and Latvia, gathered by a collaboration of Lithuanian (BFBOCC-LT) and Latvian (BFBOCC-LV) hereditary breast and ovarian cancer research groups and contributed as one study to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, for studies of genetic modifiers of cancer risk in carriers."; "PMID:23544012", "PMID:28448241", "PMID:29058716", "PMID:34320204"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:316a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BFBOCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13812; , ; ; "PMID:33303219"; "A longitudinal brain-donation cohort in the United Kingdom, established in 2008 with funding from Alzheimer's Research UK and the Alzheimer's Society, of volunteers with dementia and volunteers without cognitive impairment (the latter aged 65 or over, apart from spouses or partners of participants with dementia), recruited through a network of six dementia research centres (King's College London, Bristol, Manchester, Oxford, Cardiff and Newcastle) and their university brain banks, who undergo standardised clinical and psychometric assessments during life and have consented to donate their brains for dementia research after death."; 3276; "BDR", "BfDR", "Brains for Dementia Research cohort"; rdfs:label "Brains for Dementia Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13812 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:316b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13812; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6294579/fullTextXML"; rdfs:comment "Thus, the BDR program was and is that of planned brain donation following longitudinal clinical and psychometric data collection from individuals with dementia and those with no cognitive impairment from a network of recruitment centers and brain banks." . _:316c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6294579/fullTextXML"; rdfs:comment "The Brains for Dementia Research (BDR) cohort and program was for planned brain donation across five UK brain banks and one donation point, with standardized operating procedures, following longitudinal clinical and psychometric assessments for people with no cognitive impairment as well as those with dementia." . _:316d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33303219"; "Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's disease."; "PMID:33303219", "http://irep.ntu.ac.uk/id/eprint/42152/1/1389839_Brookes.pdf"; rdfs:comment "We have determined the predictive capacity of the Synaptic PRS in two datasets of cognitively normal controls (target dataset; n=137, validation dataset; n=80) and pathologically confirmed LOAD patients (target dataset; n=302, validation dataset; n=56) from the Brains for Dementia Research (BDR) resource." . _:316e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal brain-donation cohort in the United Kingdom, established in 2008 with funding from Alzheimer's Research UK and the Alzheimer's Society, of volunteers with dementia and volunteers without cognitive impairment (the latter aged 65 or over, apart from spouses or partners of participants with dementia), recruited through a network of six dementia research centres (King's College London, Bristol, Manchester, Oxford, Cardiff and Newcastle) and their university brain banks, who undergo standardised clinical and psychometric assessments during life and have consented to donate their brains for dementia research after death."; "PMID:30452415"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:316f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3276; "volunteers recruited to the study by January 2018"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6294579/"; rdfs:comment "At January 2018, a total of 3,276 volunteers had been recruited to the study, with 3,128 of the recruited 3,276 undergoing baseline assessments and 6,676 follow up assessments undertaken at this census date." . _:31702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDR"; . _:31712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BfDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13820, _:genid-371333f489424440b12a13b9d98ced822608-genid13822; , ; "PMID:25229638"; "A prospective longitudinal study based at the University of Edinburgh of young people aged 16–25 at entry who were well but at high familial risk of mood disorder, having at least one first-degree or two second-degree relatives with bipolar I disorder (identified through patients with bipolar I disorder referred by psychiatrists across Scotland), and of unrelated controls with no personal or family history of bipolar disorder drawn from their social networks, assessed clinically and with brain MRI on three occasions about two years apart to study changes that precede the onset of mood disorders."; 283; "BFS", "Bipolar Family Study", "SBFS"; rdfs:label "Scottish Bipolar Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13820 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13822 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13820; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25229638+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Bipolar Family Study (BFS) is a prospective longitudinal study that has examined individuals at familial risk of mood disorder and healthy controls on three occasions, 2 years apart." . _:31732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13822; "mood disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25229638+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Bipolar Family Study (BFS) is a prospective longitudinal study that has examined individuals at familial risk of mood disorder and healthy controls on three occasions, 2 years apart." . _:31742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3590244/fullTextXML"; rdfs:comment "Individuals with a diagnosis of bipolar I disorder were identified by psychiatrists across Scotland." . _:31752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25229638"; "Dysfunction of emotional brain systems in individuals at high risk of mood disorder with depression and predictive features prior to illness."; "PMID:25229638", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25229638+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Bipolar Family Study (BFS) is a prospective longitudinal study that has examined individuals at familial risk of mood disorder and healthy controls on three occasions, 2 years apart." . _:31762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective longitudinal study based at the University of Edinburgh of young people aged 16–25 at entry who were well but at high familial risk of mood disorder, having at least one first-degree or two second-degree relatives with bipolar I disorder (identified through patients with bipolar I disorder referred by psychiatrists across Scotland), and of unrelated controls with no personal or family history of bipolar disorder drawn from their social networks, assessed clinically and with brain MRI on three occasions about two years apart to study changes that precede the onset of mood disorders."; "PMID:23483904", "PMID:25229638", "PMID:27418025", "PMID:32954013"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 283; "adolescents and young adults (high-risk and controls) recruited to the SBFS"; "PMID:32954013"; rdfs:comment "Participants were adolescents and young adults (N = 283, age 15–30 years) recruited as part of the Scottish Bipolar Family Study (SBFS) (Chan et al., 2016; Ganzola et al., 2018; Sprooten et al., 2011; Whalley et al., 2015)." . _:31782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BFS"; . _:31792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13830, _:genid-371333f489424440b12a13b9d98ced822608-genid13832, _:genid-371333f489424440b12a13b9d98ced822608-genid13834; , ; "PMID:30787307"; "A family-based study of asthma and schistosomiasis in five rural communities of the district of Conde, Bahia, north-eastern Brazil, an area endemic for Schistosoma mansoni about 200 km north of Salvador, in which residents aged 5 to 85, most of them members of two large pedigrees, were enrolled by whole-population ascertainment from July to September 2004 by the Federal University of Bahia and Johns Hopkins University, with later follow-up visits, to study the genetic control of total serum IgE, S. mansoni infection intensity and asthma; it is one of the studies of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)."; 822; "BIAS", "Brazilian Immunogenetics of Asthma & Schistosomiasis study", "Brazilian Immunogenetics of Asthma and Schistosomiasis study"; rdfs:label "Brazilian Immunogenetics of Asthma and Schistosomiasis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13830 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13832 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13834 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:317a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13830; "residence in a Schistosoma mansoni-endemic area"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18717640+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "By use of a whole-population ascertainment scheme, 822 individuals were enrolled from a schistosomiasis-endemic area in Conde, Bahia, in Brazil." . _:317b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13832; "asthma"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Brazilian Immunogenetics of Asthma and Schistosomiasis (BIAS) study is a whole-population ascertainment designed study of asthma and schistosomiasis in the rural district of Conde, Bahia, located 200 km north of Salvador, Brazil [14-16]." . _:317c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13834; "schistosomiasis"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Brazilian Immunogenetics of Asthma and Schistosomiasis (BIAS) study is a whole-population ascertainment designed study of asthma and schistosomiasis in the rural district of Conde, Bahia, located 200 km north of Salvador, Brazil [14-16]." . _:317d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18717640+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "By use of a whole-population ascertainment scheme, 822 individuals were enrolled from a schistosomiasis-endemic area in Conde, Bahia, in Brazil." . _:317e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30787307"; "Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations."; "PMID:30787307", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Brazilian Immunogenetics of Asthma and Schistosomiasis (BIAS) study is a whole-population ascertainment designed study of asthma and schistosomiasis in the rural district of Conde, Bahia, located 200 km north of Salvador, Brazil [14-16]." . _:317f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of asthma and schistosomiasis in five rural communities of the district of Conde, Bahia, north-eastern Brazil, an area endemic for Schistosoma mansoni about 200 km north of Salvador, in which residents aged 5 to 85, most of them members of two large pedigrees, were enrolled by whole-population ascertainment from July to September 2004 by the Federal University of Bahia and Johns Hopkins University, with later follow-up visits, to study the genetic control of total serum IgE, S. mansoni infection intensity and asthma; it is one of the studies of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)."; "PMID:18717640", "PMID:22574126", "PMID:27725671", "PMID:30787307"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 822; "individuals enrolled by whole-population ascertainment (2004)"; "PMID:18717640"; rdfs:comment "By use of a whole-population ascertainment scheme, 822 individuals were enrolled from a schistosomiasis-endemic area in Conde, Bahia, in Brazil." . _:31812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13841, _:genid-371333f489424440b12a13b9d98ced822608-genid13843, _:genid-371333f489424440b12a13b9d98ced822608-genid13845, _:genid-371333f489424440b12a13b9d98ced822608-genid13847; , , ; ; "PMID:36520433"; "A prospective, longitudinal, multicentre biobank cohort of older adults with cognitive complaints (subjective cognitive decline, mild cognitive impairment, Alzheimer's disease, vascular and other dementias) enrolled from October 2016 to December 2020 at five South Korean university hospitals (Ajou University Hospital, Samsung Medical Center, Inha University Hospital, Pusan National University Hospital and Chonnam National University Hospital), planned and funded by the Korea Disease Control and Prevention Agency for the Korea Biobank Project to bank biospecimens and data for research on Alzheimer's disease, chronic cerebrovascular disease and mixed pathology; participants have clinical and neuropsychological assessments and blood tests, subsets have brain MRI, amyloid PET, Korea Biobank Array genotyping, actigraphy and skin fibroblast sampling, and follow-up is planned annually."; 1013; "BICWALZS", "Biobank Innovation for Chronic Cerebrovascular Disease With Alzheimer's Disease Study", "Biobank Innovations for Chronic Cerebrovascular Disease with ALZheimer's Disease Study"; rdfs:label "Biobank Innovations for Chronic Cerebrovascular Disease With Alzheimer's Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13841 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13843 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13845 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13847 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13841; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8898610/fullTextXML"; rdfs:comment "The original goal of BICWALZS was to facilitate, regulate, and ensure optimal research use of human biospecimens and data in the field of AD, chronic CVD, and mixed pathology for mild cognitive impairment (MCI) and dementia." . _:31832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13843; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8898610/fullTextXML"; rdfs:comment "The original goal of BICWALZS was to facilitate, regulate, and ensure optimal research use of human biospecimens and data in the field of AD, chronic CVD, and mixed pathology for mild cognitive impairment (MCI) and dementia." . _:31842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13845; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8898610/fullTextXML"; rdfs:comment "The original goal of BICWALZS was to facilitate, regulate, and ensure optimal research use of human biospecimens and data in the field of AD, chronic CVD, and mixed pathology for mild cognitive impairment (MCI) and dementia." . _:31852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13847; "chronic cerebrovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8898610/fullTextXML"; rdfs:comment "The original goal of BICWALZS was to facilitate, regulate, and ensure optimal research use of human biospecimens and data in the field of AD, chronic CVD, and mixed pathology for mild cognitive impairment (MCI) and dementia." . _:31862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10854406/"; rdfs:comment "Korea pheno1 and Korea pheno2 were from the Biobank Innovations for Chronic Cerebrovascular Disease with ALZheimer’s Disease Study (BICWALZS) as a Korea Biobank Project[26]." . _:31872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36520433"; "Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes."; "PMID:36520433", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9856322/fullTextXML"; rdfs:comment "This was part of the ongoing BICWALZS study (Biobank Innovation for Chronic Cerebrovascular Disease With Alzheimer’s Disease Study) and data from the Center for Convergence Research of Neurological Disorders." . _:31882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, longitudinal, multicentre biobank cohort of older adults with cognitive complaints (subjective cognitive decline, mild cognitive impairment, Alzheimer's disease, vascular and other dementias) enrolled from October 2016 to December 2020 at five South Korean university hospitals (Ajou University Hospital, Samsung Medical Center, Inha University Hospital, Pusan National University Hospital and Chonnam National University Hospital), planned and funded by the Korea Disease Control and Prevention Agency for the Korea Biobank Project to bank biospecimens and data for research on Alzheimer's disease, chronic cerebrovascular disease and mixed pathology; participants have clinical and neuropsychological assessments and blood tests, subsets have brain MRI, amyloid PET, Korea Biobank Array genotyping, actigraphy and skin fibroblast sampling, and follow-up is planned annually."; "PMID:35042283"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1013; "older adults with cognitive complaints enrolled October 2016 to December 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8898610/fullTextXML"; rdfs:comment "As of December 2020, a total of 1,013 participants were enrolled in BICWALZS." . _:318a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BICWALZS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13854; , ; , ; "PMID:32424353"; "A case-control study of breast cancer in the West of Ireland whose cases are unselected breast cancer patients recruited from University College Hospital Galway and surrounding hospitals in the West of Ireland since 2001, and whose controls are women over 60 years of age with no personal history of any cancer and no family history of breast or ovarian cancer, identified from retirement groups in the West of Ireland in 2001–2008; it is one of the studies of the Breast Cancer Association Consortium (BCAC)."; 988; 1016; "BIGGS", "Breast Cancer In Galway Genetic Study"; rdfs:label "Breast Cancer in Galway Genetic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13854 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:318b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13854; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Unselected cases recruited from University College Hospital Galway and surrounding hospitals in the West of Ireland since 2001" . _:318c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Unselected cases recruited from University College Hospital Galway and surrounding hospitals in the West of Ireland since 2001" . _:318d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "Breast Cancer in Galway Genetic Study" . _:318e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer in the West of Ireland whose cases are unselected breast cancer patients recruited from University College Hospital Galway and surrounding hospitals in the West of Ireland since 2001, and whose controls are women over 60 years of age with no personal history of any cancer and no family history of breast or ovarian cancer, identified from retirement groups in the West of Ireland in 2001–2008; it is one of the studies of the Breast Cancer Association Consortium (BCAC)."; "PMID:23535729", "PMID:32424353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:318f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 988; "breast cancer cases and controls from the West of Ireland genotyped in the study's 2010 paper"; "PMID:19390964"; rdfs:comment "In order to clarify whether TGFBR1*6A is associated with breast cancer risk, we have genotyped this polymorphism in 988 breast cancer cases and 1,016 controls from the West of Ireland and also performed a meta-analysis of previously published data (5,150 cases and 6,344 controls)." . _:31902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1016; "breast cancer cases and controls from the West of Ireland genotyped in the study's 2010 paper"; "PMID:19390964"; rdfs:comment "In order to clarify whether TGFBR1*6A is associated with breast cancer risk, we have genotyped this polymorphism in 988 breast cancer cases and 1,016 controls from the West of Ireland and also performed a meta-analysis of previously published data (5,150 cases and 6,344 controls)." . _:31912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIGGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13862; ; , ; ; "PMID:21249187"; "A case-control genetic study of bipolar disorder in the United States, initiated in 2006 as the genetic component of the NIMH-sponsored Genetics Initiative for Bipolar Disorder Consortium to carry out genome-wide association studies: cases with bipolar disorder of European and African American ancestry, collected through the consortium's eleven US collection sites (mostly from multiplex families or sibling pairs for the first, GAIN-funded genotyping; without regard to family history for the later TGen genotyping), and controls from the NIMH Genetics Initiative control sample collected for the Molecular Genetics of Schizophrenia study."; 2191; 1434; "BIGS", "BiGS", "NIMH Bipolar Disorder Genome Study"; rdfs:label "Bipolar Genome Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13862; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21249187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The second evaluation was program performance calling rare and common CNVs in the Bipolar Genome Study (BiGS) data set (1001 bipolar cases and 1033 controls, all of European ancestry) as measured by the Affymetrix SNP 6.0 array." . _:31932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21595007+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants in the US Bipolar Genome Study (BIGS) were assessed on six items of concerns in the Questionnaire on Genetic Risk (QGR)." . _:31942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21249187"; "Accuracy of CNV Detection from GWAS Data."; "PMID:21249187", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21249187+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The second evaluation was program performance calling rare and common CNVs in the Bipolar Genome Study (BiGS) data set (1001 bipolar cases and 1033 controls, all of European ancestry) as measured by the Affymetrix SNP 6.0 array." . _:31952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genetic study of bipolar disorder in the United States, initiated in 2006 as the genetic component of the NIMH-sponsored Genetics Initiative for Bipolar Disorder Consortium to carry out genome-wide association studies: cases with bipolar disorder of European and African American ancestry, collected through the consortium's eleven US collection sites (mostly from multiplex families or sibling pairs for the first, GAIN-funded genotyping; without regard to family history for the later TGen genotyping), and controls from the NIMH Genetics Initiative control sample collected for the Molecular Genetics of Schizophrenia study."; "PMID:19488044", "PMID:21738484"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2191; "European-ancestry bipolar cases and controls genotyped in the GAIN and TGen stages combined (2011)"; "PMID:21738484"; rdfs:comment "We present new genotype data for 1,190 cases and 401 controls and perform a genome-wide association study including additional samples for a total of 2,191 cases and 1,434 controls." . _:31972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1434; "European-ancestry bipolar cases and controls genotyped in the GAIN and TGen stages combined (2011)"; "PMID:21738484"; rdfs:comment "We present new genotype data for 1,190 cases and 401 controls and perform a genome-wide association study including additional samples for a total of 2,191 cases and 1,434 controls." . _:31982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIGS"; . _:31992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BiGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13871, _:genid-371333f489424440b12a13b9d98ced822608-genid13873; , ; "PMID:37933522"; "A longitudinal cohort of Syrian refugee children aged 8–16 and their primary caregivers, from families who had fled the war in Syria within the previous four years and were living in informal tented settlements in the West and Central Beqaa regions of Lebanon, recruited by purposive cluster sampling from October 2017 to January 2018 and followed up once a year later, with interviews of children and caregivers and children's saliva (for genotyping and DNA methylation) and hair (for cortisol, DHEA and testosterone), to study how psychosocial and biological factors shape resilience and mental health problems; it was funded by the US National Institute of Child Health and Human Development and sponsored by Queen Mary University of London."; 1600; "BIOPATH", "Biological Pathways of Risk and Resilience in Syrian Refugee Children"; rdfs:label "Biological pathways of risk and resilience in Syrian refugee children"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13871 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13873 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:319a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13871; "civilian exposure to war events", "war and adversity associated with being a refugee"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8960581/fullTextXML"; rdfs:comment "Together with the inclusion of genetic, epigenetic, and neuroendocrine measures, this makes it possible to explore the interplay between biological and environmental factors in the development of mental health and wellbeing outcomes in children exposed to war and adversity associated with being a refugee." . _:319b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13873; "mental health problems"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35041012+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The BIOPATH cohort was established to explore the interplay of psychosocial and biological factors in the development of resilience and mental health problems in Syrian refugee children." . _:319c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35041012+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Based in Lebanon, a middle-income country significantly impacted by the refugee crisis, it is the first such cohort of refugees in the Middle East." . _:319d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37933522"; "Risk and resilience in Syrian refugee children: A multisystem analysis."; "PMID:37933522", "https://www.cambridge.org/core/journals/development-and-psychopathology/article/risk-and-resilience-in-syrian-refugee-children-a-multisystem-analysis/C219D707EC55AA6D51903AA8E512C875"; rdfs:comment "Participants were drawn from the biological pathways of risk and resilience in Syrian refugee children (BIOPATH) study (McEwen et al., Reference McEwen, Popham, Moghames, Smeeth, de Villiers, Saab, Karam, Fayyad, Karam and Pluess2022)." . _:319e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of Syrian refugee children aged 8–16 and their primary caregivers, from families who had fled the war in Syria within the previous four years and were living in informal tented settlements in the West and Central Beqaa regions of Lebanon, recruited by purposive cluster sampling from October 2017 to January 2018 and followed up once a year later, with interviews of children and caregivers and children's saliva (for genotyping and DNA methylation) and hair (for cortisol, DHEA and testosterone), to study how psychosocial and biological factors shape resilience and mental health problems; it was funded by the US National Institute of Child Health and Human Development and sponsored by Queen Mary University of London."; "PMID:35041012", "PMID:37933522"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:319f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1600; "families (child-caregiver dyads) consented and assessed at baseline (2017-2018)"; "PMID:35041012"; rdfs:comment "At baseline, 77 ITSs were visited and N = 2282 families approached, n = 1600 (70.1%) of whom were eligible, consented to participate, and completed data collection." . _:31a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOPATH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13880; , , , , , , , , , , , ; "PMID:34197840"; "An international observational cohort study, led from the University of Washington, of adults with kidney failure treated with peritoneal dialysis who had a peritoneal equilibration test soon after starting it, set up to find common genetic variants that influence peritoneal solute transfer rate and ultrafiltration. Participants were enrolled prospectively at centres in Australia, Canada, the United Kingdom and the United States from 2013 to 2018, and DNA and clinical data were added from earlier peritoneal dialysis studies in the United Kingdom (PD-CRAFT), Belgium, Sweden and Hong Kong."; 3817; "Bio-PD", "Biological Determinants of PD", "Biological Determinants of Peritoneal Dialysis (Bio-PD) study"; rdfs:label "Biological Determinants of Peritoneal Dialysis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13880 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13880; "kidney failure"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8545920/unicode"; rdfs:comment "This international collaborative effort is the largest cohort study with bio-samples to date of patients with kidney failure treated with PD." . _:31a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12807162/"; rdfs:comment "The Bio-PD study enrolled 3817 participants undergoing PD at 70 centers across Australia, Belgium, Canada, Hong Kong, Sweden, the United Kingdom, and the United States." . _:31a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34197840"; "A genome-wide association study suggests correlations of common genetic variants with peritoneal solute transfer rates in patients with kidney failure receiving peritoneal dialysis."; "PMID:34197840", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8545920/unicode"; rdfs:comment "To bridge this gap in knowledge, we undertook the Biological Determinants of PD (Bio-PD) study to perform a GWAS to test the hypothesis that common genetic variants explain some of the inter-individual variability in PSTR in people with kidney failure treated with PD." . _:31a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international observational cohort study, led from the University of Washington, of adults with kidney failure treated with peritoneal dialysis who had a peritoneal equilibration test soon after starting it, set up to find common genetic variants that influence peritoneal solute transfer rate and ultrafiltration. Participants were enrolled prospectively at centres in Australia, Canada, the United Kingdom and the United States from 2013 to 2018, and DNA and clinical data were added from earlier peritoneal dialysis studies in the United Kingdom (PD-CRAFT), Belgium, Sweden and Hong Kong."; "PMID:34197840", "PMID:40669005", "https://clinicaltrials.gov/api/v2/studies/NCT02694068"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3817; "participants enrolled (prospectively, or with DNA procured from earlier PD studies)"; "https://europepmc.org/api/getPdf?pmcid=PMC12807162"; rdfs:comment "The Bio-PD study enrolled 3817 participants undergo- ing PD at 70 centers across Australia, Belgium, Can- ada, Hong Kong, Sweden, the United Kingdom, and the United States." . _:31a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Bio-PD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13887; , , , , , , , , , , ; "PMID:31919934"; "A multicentre, prospective, observational European study of adults with new-onset or worsening heart failure who were treated with loop diuretics but received no more than half the target doses of ACE inhibitors or angiotensin receptor blockers and/or beta-blockers, and whose physicians intended to start or up-titrate these drugs. Its index cohort was enrolled at 69 centres in 11 European countries between December 2010 and December 2012 and its validation cohort at six centres in Scotland between October 2010 and April 2014; funded by the European Commission's Seventh Framework Programme, it combined clinical data, biomarkers, genome-wide genotyping and proteomics to find patient profiles that predict response to guideline-recommended therapy."; 4254; "A Systems Biology Study to Tailored Treatment in Chronic Heart Failure", "BIOSTAT-CHF", "BIOlogy Study to TAilored Treatment in Chronic Heart Failure", "Systems Biology Study to Tailored Treatment in Chronic Heart Failure"; rdfs:label "A systems BIOlogy Study to TAilored Treatment in Chronic Heart Failure"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13887 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13887; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27126231+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The BIOlogy Study to TAilored Treatment in Chronic Heart Failure (BIOSTAT-CHF) included 2516 patients with worsening signs and/or symptoms of heart failure from 11 European countries, who were considered to be on suboptimal medical treatment." . _:31a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7551091/"; rdfs:comment "Country Number of Included Patients Mean Selenium Percentage of Patients < 100 μg/L the Netherlands 386 86.00 76.68 France 243 80.70 80.66 Germancy 87 90.69 67.82 Serbia 382 91.23 66.49 Slovenia 43 66.83 97.67 Greece 285 90.87 68.42 Italy 297 115.48 27.61 Norway 108 79.16 86.11 Sweden 97 79.49 84.54 Poland 239 79.33 87.45 United Kingdom 161 84.42 77.64" . _:31a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8318449/fullTextXML"; rdfs:comment "In brief, BIOSTAT‐CHF was a multicentre, prospective, observational study that included both an index cohort of 2516 chronic HF patients with worsening signs and/or symptoms from 11 European countries, who were considered to be on suboptimal medical treatment, and a validation cohort of 1738 HF patients was recruited from six centres in Scotland." . _:31aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31919934"; "Genetic risk and atrial fibrillation in patients with heart failure."; "PMID:31919934", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31919934+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "An AF genetic risk score was calculated in 3759 European ancestry individuals (1783 with sinus rhythm, 1976 with AF) from the BIOlogy Study to TAilored Treatment in Chronic Heart Failure (BIOSTAT-CHF) by summing 97 single nucleotide polymorphism (SNP) alleles (ranging from 0-2) weighted by the natural logarithm of the relative SNP risk from the latest AF genome-wide association study." . _:31ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, prospective, observational European study of adults with new-onset or worsening heart failure who were treated with loop diuretics but received no more than half the target doses of ACE inhibitors or angiotensin receptor blockers and/or beta-blockers, and whose physicians intended to start or up-titrate these drugs. Its index cohort was enrolled at 69 centres in 11 European countries between December 2010 and December 2012 and its validation cohort at six centres in Scotland between October 2010 and April 2014; funded by the European Commission's Seventh Framework Programme, it combined clinical data, biomarkers, genome-wide genotyping and proteomics to find patient profiles that predict response to guideline-recommended therapy."; "PMID:27126231", "PMID:31919934", "PMID:32002631", "PMID:32825781", "PMID:33998162"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4254; "heart failure patients in the index (2516) and validation (1738) cohorts combined"; "https://europepmc.org/api/getPdf?pmcid=PMC7319410"; rdfs:comment "Patient selection For the current analysis the BIOSTAT-CHF index cohort (n =2516) and validation cohort (n =1738) were combined to achieve a larger set of patients (n =4254)." . _:31ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BIOSTAT-CHF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13895; ; "PMID:23717212"; "An unmatched case-control study of severe Plasmodium falciparum malaria at Queen Elizabeth Central Hospital, Blantyre, Malawi, run by the Malawi-Liverpool Wellcome Trust Clinical Research Programme with the Blantyre Malaria Project. Its cases are children aged 2 months to 14 years admitted with severe malaria (cerebral malaria or severe malarial anaemia) in 1994-2007, its controls are cord-blood samples from infants born at the same hospital in 2006-2007, and blood was also taken from some cases' parents; it is the Malawi partner study of the MalariaGEN Consortial Project 1 and its genome-wide association studies of severe malaria."; 1815; 3777; "Blantyre", "Blantyre-Wellcome Trust Project in Blantyre, Malawi", "MLWCRP", "Malawi-Liverpool Wellcome Clinical Research Programme, Blantyre"; rdfs:label "Human genetic determinants of severe malaria in Malawi"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13895 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13895; "severe malaria"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-malawi/"; rdfs:comment "The Malawi-Liverpool Wellcome Clinical Research Programme (MLW) together with the Blantyre Malaria Project (BMP) recruited severe malaria cases, healthy controls and parents from the Queen Elizabeth Central Hospital (QECH) in Blantyre, Malawi." . _:31af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23717212"; "Imputation-based meta-analysis of severe malaria in three African populations."; "PMID:23717212", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3662650/fullTextXML"; rdfs:comment "Here we describe partner projects from the MRC laboratories in Fajara, Gambia, The KEMRI-Wellcome Trust Unit in Kilif, Kenya and The Blantyre-Wellcome Trust Project in Blantyre, Malawi (Table S1)." . _:31b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An unmatched case-control study of severe Plasmodium falciparum malaria at Queen Elizabeth Central Hospital, Blantyre, Malawi, run by the Malawi-Liverpool Wellcome Trust Clinical Research Programme with the Blantyre Malaria Project. Its cases are children aged 2 months to 14 years admitted with severe malaria (cerebral malaria or severe malarial anaemia) in 1994-2007, its controls are cord-blood samples from infants born at the same hospital in 2006-2007, and blood was also taken from some cases' parents; it is the Malawi partner study of the MalariaGEN Consortial Project 1 and its genome-wide association studies of severe malaria."; "PMID:23717212", "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-malawi/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1815; "children with severe malaria enrolled 1994-2007 (cases) and cord-blood controls 2006-2007"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-malawi/"; rdfs:comment "A total of 1,815 children (aged 2 months - 14 years) admitted to the national hospital in Blantyre, Malawi, were enrolled into an unmatched case-control study during 1994-2007." . _:31b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3777; "children with severe malaria enrolled 1994-2007 (cases) and cord-blood controls 2006-2007"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-malawi/"; rdfs:comment "A total of 1,815 children (aged 2 months - 14 years) admitted to the national hospital in Blantyre, Malawi, were enrolled into an unmatched case-control study during 1994-2007." . _:31b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blantyre"; . _:31b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MLWCRP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13903; , ; "PMID:29574091"; "An ongoing, prospective, multicentre diagnostic study of participants in the German screening colonoscopy programme, recruited since November 2005 at a preparatory visit before colonoscopy at gastroenterology practices in southern Germany, who donate blood and stool samples and answer a questionnaire. Run from the German Cancer Research Center (DKFZ) in Heidelberg, it evaluates new blood and stool tests for the early detection of colorectal cancer and advanced adenomas against the findings of screening colonoscopy."; 8000; "BLITZ", "BliTz", "Blitz", "Evaluation of novel markers for early detection of colorectal cancer"; rdfs:label "Begleitende Evaluierung innovativer Testverfahren zur Darmkrebsfrüherkennung"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13903 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13903; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11365593/fullTextXML"; rdfs:comment "BliTz is an ongoing study conducted among screening colonoscopy participants in southwestern Germany with the primary aim to evaluate diagnostic performance of noninvasive CRC screening tests." . _:31b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8963839/fullTextXML"; rdfs:comment "In brief, BliTz is an ongoing prospective CRC screening study conducted in Southern Germany." . _:31b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29574091"; "Genetic Risk Score Is Associated With Prevalence of Advanced Neoplasms in a Colorectal Cancer Screening Population."; "PMID:29574091", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6035076/unicode"; rdfs:comment "Data for the analyses were drawn from the BLITZ study (Begleitende Evaluierung innovativer Testverfahren zur Darmkrebsfrüherkennung) which has been described in detail before." . _:31b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing, prospective, multicentre diagnostic study of participants in the German screening colonoscopy programme, recruited since November 2005 at a preparatory visit before colonoscopy at gastroenterology practices in southern Germany, who donate blood and stool samples and answer a questionnaire. Run from the German Cancer Research Center (DKFZ) in Heidelberg, it evaluates new blood and stool tests for the early detection of colorectal cancer and advanced adenomas against the findings of screening colonoscopy."; "PMID:29574091", "PMID:35060941", "PMID:38704818", "https://drks.de/search/en/trial/DRKS00008737"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8000; "participants recruited since the end of 2005 (a lower bound: 'more than 8,000'), 2018"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6035076/"; rdfs:comment "Since the end of 2005, more than 8,000 participants were recruited for the BLITZ study, which is still ongoing." . _:31ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLITZ"; . _:31bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BliTz"; . _:31bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Blitz"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13912, _:genid-371333f489424440b12a13b9d98ced822608-genid13914; , , ; "PMID:21966275"; "A European Union Sixth Framework Programme integrated project (June 2004 to November 2008), coordinated by the University of Cambridge with clinical coronary artery disease centres, genomics groups and the Wellcome Trust Sanger Institute, that sought genes and pathways of atherothrombosis in coronary artery disease through platelet transcriptome and proteome analysis and exon resequencing. For genetic association studies it assembled a Dutch case-control collection, with cases from the Academic Medical Center Amsterdam Premature Atherosclerosis Study (AMC-PAS) and the AGNES study of first ST-elevation myocardial infarction and controls from Sanquin blood donors, and a German one, with cases and controls from the Ludwigshafen Risk and Cardiovascular Health (LURIC) study and additional blood-donor controls from Mannheim."; "BLOODOMICS", "Bloodomics project", "Identification of risk genes for atherothrombosis in coronary artery disease by transcriptome and proteome analysis and high throughput exon resequencing", "Integrated Project Bloodomics"; rdfs:label "Bloodomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13912; "coronary artery disease"; "https://cordis.europa.eu/project/id/503485"; rdfs:comment "Identification of risk genes for atherothrombosis in coronary artery disease by transcriptome and proteome analysis and high throughput exon resequencing" . _:31be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13914; "atherothrombosis"; "https://cordis.europa.eu/project/id/503485"; rdfs:comment "Identification of risk genes for atherothrombosis in coronary artery disease by transcriptome and proteome analysis and high throughput exon resequencing" . _:31bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3178591/supplementaryFiles"; rdfs:comment "LURIC is a prospective study of cardiovascular death in individuals of German ancestry resident in southwest Germany who underwent elective coronary angiography and left ventriculography between June 1997 and January 2000" . _:31c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3178591/supplementaryFiles"; rdfs:comment "A collection of DNA samples from blood donors from the north-west region of the Netherlands was established as controls for this study." . _:31c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21966275"; "Large-scale gene-centric analysis identifies novel variants for coronary artery disease."; "PMID:21966275", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3178591/supplementaryFiles"; rdfs:comment "The Dutch component of the BLOODOMICS collaboration comprises of cases drawn from the Academic Medical Centre Amsterdam Premature Atherosclerosis Study (AMC-PAS) and the AGNES study, with controls ascertained from the Sanquin Common Controls (SANQUIN-CC) study." . _:31c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European Union Sixth Framework Programme integrated project (June 2004 to November 2008), coordinated by the University of Cambridge with clinical coronary artery disease centres, genomics groups and the Wellcome Trust Sanger Institute, that sought genes and pathways of atherothrombosis in coronary artery disease through platelet transcriptome and proteome analysis and exon resequencing. For genetic association studies it assembled a Dutch case-control collection, with cases from the Academic Medical Center Amsterdam Premature Atherosclerosis Study (AMC-PAS) and the AGNES study of first ST-elevation myocardial infarction and controls from Sanquin blood donors, and a German one, with cases and controls from the Ludwigshafen Risk and Cardiovascular Health (LURIC) study and additional blood-donor controls from Mannheim."; "PMID:21966275", "https://cordis.europa.eu/project/id/503485"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BLOODOMICS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13921; , , ; ; "PMID:28346442"; "A South African study of BRCA1 and BRCA2 mutations in women with breast cancer and their families, based at the University of Pretoria and funded by the Cancer Association of South Africa. The women it identifies as carriers of pathogenic BRCA1 or BRCA2 variants are contributed to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of breast and ovarian cancer risk in carriers."; "BMBSA", "BRCA gene mutations and breast cancer in South African women", "BRCA-gene mutations and Breast Cancer in South African Women"; rdfs:label "BRCA-gene mutations and breast cancer in South African women"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13921 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13921; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "BRCA-gene mutations and breast cancer in South African women" . _:31c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346442"; "Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer."; "PMID:28346442", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "BRCA-gene mutations and breast cancer in South African women" . _:31c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A South African study of BRCA1 and BRCA2 mutations in women with breast cancer and their families, based at the University of Pretoria and funded by the Cancer Association of South Africa. The women it identifies as carriers of pathogenic BRCA1 or BRCA2 variants are contributed to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of breast and ovarian cancer risk in carriers."; "PMID:23544013", "PMID:28346442", "PMID:32665703", "PMID:36203093"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BMBSA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13926; , ; ; "PMID:21673961"; "A case-control study of ovarian cancer in Erlangen, northern Bavaria, Germany, supported by the ELAN programme of the University of Erlangen-Nuremberg, whose cases were recruited through the hospital in Erlangen and whose controls were randomly selected women from Erlangen, both enrolled from May 2002 to August 2008 and interviewed. It is one of the studies of the Ovarian Cancer Association Consortium (study code BAV) and contributes to its pooled epidemiological analyses and genome-wide association studies of ovarian cancer."; 684; 629; "BAV", "BOCC", "Bavarian ovarian cancer study"; rdfs:label "Bavarian Ovarian Cancer Cases and Controls"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13926 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13926; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108970/"; rdfs:comment "BAV (Bavarian Ovarian Cancer Cases and Controls) Bavaria, Germany Hospital based 204 56.0 (0.7) 229 58.0 (0.7)" . _:31c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108970/"; rdfs:comment "BAV (Bavarian Ovarian Cancer Cases and Controls) Bavaria, Germany Hospital based 204 56.0 (0.7) 229 58.0 (0.7)" . _:31ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21673961"; "Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium."; "PMID:21673961", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108970/"; rdfs:comment "BAV (Bavarian Ovarian Cancer Cases and Controls) Bavaria, Germany Hospital based 204 56.0 (0.7) 229 58.0 (0.7)" . _:31cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of ovarian cancer in Erlangen, northern Bavaria, Germany, supported by the ELAN programme of the University of Erlangen-Nuremberg, whose cases were recruited through the hospital in Erlangen and whose controls were randomly selected women from Erlangen, both enrolled from May 2002 to August 2008 and interviewed. It is one of the studies of the Ovarian Cancer Association Consortium (study code BAV) and contributes to its pooled epidemiological analyses and genome-wide association studies of ovarian cancer."; "PMID:21639959", "PMID:21673961", "PMID:23535730", "PMID:28346442", "PMID:36688720"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 684; "controls and cases from BAV in the OCAC 2023 pooled analysis of lifetime ovulatory years (analysed subset)"; "https://europepmc.org/api/getPdf?pmcid=PMC10165492"; rdfs:comment "BAV 17 Germany Bavarian Ovarian Cancer Cases and Controls 2002-2006 Hospital/Clinic-based Interview 57.31 (13.77) 629 (47.9) 684 (52.1)" . _:31cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 629; "controls and cases from BAV in the OCAC 2023 pooled analysis of lifetime ovulatory years (analysed subset)"; "https://europepmc.org/api/getPdf?pmcid=PMC10165492"; rdfs:comment "BAV 17 Germany Bavarian Ovarian Cancer Cases and Controls 2002-2006 Hospital/Clinic-based Interview 57.31 (13.77) 629 (47.9) 684 (52.1)" . _:31ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BAV"; . _:31cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BOCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13935; , ; ; "PMID:23513043"; "A hospital-based case-control study of ovarian cancer at University Hospitals Leuven, Belgium, funded by the Belgian National Cancer Plan (Nationaal Kankerplan). It is one of the studies of the Ovarian Cancer Association Consortium (study code BEL) and contributes cases and controls to its genome-wide association studies of ovarian cancer risk and to its analyses of ovarian cancer outcome."; 277; 1352; "BEL", "BELOCS", "BOCS", "Belgium Ovarian Cancer Study"; rdfs:label "Belgian Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13935; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "BEL Belgian Ovarian Cancer Study Belgium, University Hospital Leuven Hospital 245 53 (22%) 307 173 46 (27%) 220" . _:31d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "BEL Belgian Ovarian Cancer Study Belgium, University Hospital Leuven Hospital 245 53 (22%) 307 173 46 (27%) 220" . _:31d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23513043"; "Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome."; "PMID:23513043", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "BEL Belgian Ovarian Cancer Study Belgium, University Hospital Leuven Hospital 245 53 (22%) 307 173 46 (27%) 220" . _:31d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of ovarian cancer at University Hospitals Leuven, Belgium, funded by the Belgian National Cancer Plan (Nationaal Kankerplan). It is one of the studies of the Ovarian Cancer Association Consortium (study code BEL) and contributes cases and controls to its genome-wide association studies of ovarian cancer risk and to its analyses of ovarian cancer outcome."; "PMID:21639959", "PMID:23513043", "PMID:23535730", "PMID:28346442"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 277; "cases and controls from BEL in the 2013 OCAC GWAS meta-analysis (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Belgian Ovarian Cancer Study BEL Belgium, University Hospital Leuven Hospital based/ Case-‐control 277 1352 99" . _:31d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1352; "cases and controls from BEL in the 2013 OCAC GWAS meta-analysis (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Belgian Ovarian Cancer Study BEL Belgium, University Hospital Leuven Hospital based/ Case-‐control 277 1352 99" . _:31d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BEL"; . _:31d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BELOCS"; . _:31d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13945; , ; ; "PMID:32231276"; "A German case-control study of major depressive disorder whose cases were consecutive admissions with a DSM-IV lifetime diagnosis of major depressive disorder to the psychiatric inpatient units of the University of Bonn and of the Central Institute of Mental Health in Mannheim, diagnosed by best-estimate consensus from a structured interview (SCID-I or SADS), medical records and family history and excluding bipolar disorder, non-affective psychosis and substance-related depression, and whose controls came from the German population-based studies PopGen, KORA and Heinz Nixdorf Recall. It is one of the cohorts of the Psychiatric Genomics Consortium's major depressive disorder working group (cohort code boma)."; "The acronym BOMA also denotes BOMA-Bipolar Study (COHO:0001543); this term is Bonn-Mannheim MDD study."@en; 586; 1062; "BOMA", "BoMa", "Bonn/Mannheim MDD study", "boma"; rdfs:label "Bonn-Mannheim MDD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13945 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13945; "major depressive disorder"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM3_ESM.xlsx"; rdfs:comment "BOMA 1-3 boma Germany Consecutive inpatients; SCID or SADS interview; medical records POPGEN & KORA population-based DSM-IV MDD; German ancestry; ≥18yo BIP, hypomania, NAP, MDD related to SUD Unscreened" . _:31da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM3_ESM.xlsx"; rdfs:comment "BOMA 1-3 boma Germany Consecutive inpatients; SCID or SADS interview; medical records POPGEN & KORA population-based DSM-IV MDD; German ancestry; ≥18yo BIP, hypomania, NAP, MDD related to SUD Unscreened" . _:31db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32231276"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0594-5/MediaObjects/41588_2020_594_MOESM1_ESM.pdf"; rdfs:comment "PGC COHORTS PRS Analysis DSM-MDD Criteria A Symptoms Name Cohort Ncases Ncontrols N Used Reason Not Used Symptoms Available DSM-MDD Cases % DSM-MDD Cases BOMA boma 586 1062 1648 1 Yes 541 92.48" . _:31dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German case-control study of major depressive disorder whose cases were consecutive admissions with a DSM-IV lifetime diagnosis of major depressive disorder to the psychiatric inpatient units of the University of Bonn and of the Central Institute of Mental Health in Mannheim, diagnosed by best-estimate consensus from a structured interview (SCID-I or SADS), medical records and family history and excluding bipolar disorder, non-affective psychosis and substance-related depression, and whose controls came from the German population-based studies PopGen, KORA and Heinz Nixdorf Recall. It is one of the cohorts of the Psychiatric Genomics Consortium's major depressive disorder working group (cohort code boma)."; "PMID:22472876", "PMID:29700475", "PMID:32231276"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 586; "MDD cases and controls in the PGC29 boma cohort (analysed subset), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM1_ESM.pdf"; rdfs:comment "Sample size of all PGC29 cohorts: boma (Ncas=586; Ncon=1,062)" . _:31de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1062; "MDD cases and controls in the PGC29 boma cohort (analysed subset), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM1_ESM.pdf"; rdfs:comment "Sample size of all PGC29 cohorts: boma (Ncas=586; Ncon=1,062)" . _:31df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BOMA"; . _:31e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BoMa"; . _:31e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "boma"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13955; , ; ; "PGS000138", "PMID:21926972"; "A German case-control sample for genome-wide association studies of bipolar disorder, from the University of Bonn and the Central Institute of Mental Health in Mannheim, whose cases, nearly all with bipolar I disorder diagnosed by DSM-IV best-estimate consensus from structured interviews (SADS-L or SCID), were recruited from consecutive admissions to psychiatric inpatient units, and whose controls were drawn from the German population-based studies PopGen, KORA and Heinz Nixdorf Recall. It is one of the samples of the Psychiatric Genomics Consortium's bipolar disorder working group."; "The acronym BOMA also denotes Bonn-Mannheim MDD study (COHO:0001542); this term is BOMA-Bipolar Study."@en; 682; 1300; "BOMA", "BOMA-Bipolar Study, University of Bonn and CIMH Mannheim", "German BP sample", "German_BP"; ; rdfs:label "BOMA-Bipolar Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13955 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13955; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21353194+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the GWAS, we investigated 499,494 autosomal and 12,484 X-chromosomal SNPs in 682 patients with BD and in 1300 controls." . _:31e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3059436/"; rdfs:comment "GWAS Germany I German 682 1300 679 (99.56) 2 (0.29) 1 (0.15) 0 0 DSM-IV SADS-L, SCID no" . _:31e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000138"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276" . _:31e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21926972"; "Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4."; "PMID:21926972", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3637176/unicode"; rdfs:comment "Sample Ancestry Case (n)a Control (n)b Platformc Publicationd BOMA- Bipolar Study, University of Bonn and CIMH Mannheim German 675 1297 550 –" . _:31e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German case-control sample for genome-wide association studies of bipolar disorder, from the University of Bonn and the Central Institute of Mental Health in Mannheim, whose cases, nearly all with bipolar I disorder diagnosed by DSM-IV best-estimate consensus from structured interviews (SADS-L or SCID), were recruited from consecutive admissions to psychiatric inpatient units, and whose controls were drawn from the German population-based studies PopGen, KORA and Heinz Nixdorf Recall. It is one of the samples of the Psychiatric Genomics Consortium's bipolar disorder working group."; "PMID:21353194", "PMID:21926972"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 682; "German bipolar cases and controls in the Bonn-Mannheim GWAS after quality control (2011)"; "https://europepmc.org/api/getPdf?pmcid=PMC3059436"; rdfs:comment "In the GWAS, we investigated 499,494 autosomal and 12,484 X-chromosomal SNPs in 682 patients with BD and in 1300 controls." . _:31e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1300; "German bipolar cases and controls in the Bonn-Mannheim GWAS after quality control (2011)"; "https://europepmc.org/api/getPdf?pmcid=PMC3059436"; rdfs:comment "In the GWAS, we investigated 499,494 autosomal and 12,484 X-chromosomal SNPs in 682 patients with BD and in 1300 controls." . _:31e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BOMA"; . _:31ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "German_BP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13965; , ; ; "PMID:35368071"; "A genetic study of COVID-19 severity in Brazil, based at the University of São Paulo Medical School, which enrolled people infected with SARS-CoV-2 in the São Paulo metropolitan area: patients hospitalised with COVID-19 at the Instituto do Coração (InCor) and the Instituto Central do Hospital das Clínicas, and people with a previous infection who were not hospitalised, found through serological surveys or SARS-CoV-2 PCR testing of health professionals and the general population. DNA came from blood samples already taken for clinical tests or serology, with questionnaire or hospital-record data; it was designed to identify genetic risk factors for COVID-19 severity in the Brazilian population and contributes to the COVID-19 Host Genetics Initiative."; 3533; 1700; 5233; "BRACOVID", "BRACOVID Study", "BRACOVID study"; rdfs:label "Genetic determinants of COVID-19 complications in the Brazilian population"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13965 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13965; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35368071+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have organized a large-scale genome-wide association study (GWAS) in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infected individuals in Sao Paulo, Brazil, one of the most affected areas of the pandemic in the country, itself one of the most affected in the world." . _:31ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/supplementaryFiles"; rdfs:comment "Genetic determinants of COVID-19 complications in the Brazilian population Brazil BRACOVID AMR Cases 58 years Controls 54 years Hospital das Clinicas, Sao Paulo University Medical School, and the Brazilian National IRB, CONEP Axiom_PMRA.r3 array" . _:31ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35368071"; "Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study."; "PMID:35368071", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35368071+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we present the results of the initial analysis in the first 5233 participants of the BRACOVID study." . _:31ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of COVID-19 severity in Brazil, based at the University of São Paulo Medical School, which enrolled people infected with SARS-CoV-2 in the São Paulo metropolitan area: patients hospitalised with COVID-19 at the Instituto do Coração (InCor) and the Instituto Central do Hospital das Clínicas, and people with a previous infection who were not hospitalised, found through serological surveys or SARS-CoV-2 PCR testing of health professionals and the general population. DNA came from blood samples already taken for clinical tests or serology, with questionnaire or hospital-record data; it was designed to identify genetic risk factors for COVID-19 severity in the Brazilian population and contributes to the COVID-19 Host Genetics Initiative."; "PMID:34237774", "PMID:35368071", "https://www.medrxiv.org/content/medrxiv/early/2021/10/07/2021.10.06.21264631.full.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3533; "first participants enrolled and analysed (3533 hospitalised cases, 1700 non-hospitalised controls), 2021"; "https://www.medrxiv.org/content/medrxiv/early/2021/10/07/2021.10.06.21264631.full.pdf"; rdfs:comment "Here we present the results from the BRACOVID study 89 enrolling 5,233 participants with distinct COVID-19 clinical presentations and from a 90 diverse population in Brazil." . _:31f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1700; "first participants enrolled and analysed (3533 hospitalised cases, 1700 non-hospitalised controls), 2021"; "https://www.medrxiv.org/content/medrxiv/early/2021/10/07/2021.10.06.21264631.full.pdf"; rdfs:comment "Here we present the results from the BRACOVID study 89 enrolling 5,233 participants with distinct COVID-19 clinical presentations and from a 90 diverse population in Brazil." . _:31f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5233; "first participants enrolled and analysed (3533 hospitalised cases, 1700 non-hospitalised controls), 2021"; "https://www.medrxiv.org/content/medrxiv/early/2021/10/07/2021.10.06.21264631.full.pdf"; rdfs:comment "Here we present the results from the BRACOVID study 89 enrolling 5,233 participants with distinct COVID-19 clinical presentations and from a 90 diverse population in Brazil." . _:31f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRACOVID"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13974; , ; "PMID:40567118"; "A multicentre observational study of patients with rheumatoid arthritis treated with biologic drugs at rheumatology centres across the United Kingdom, which collects their blood samples for DNA, RNA and cellular studies together with clinical, laboratory and adherence data, to study genetic and other predictors of response to biologic therapy. Its first patients, starting anti-TNF therapy, were identified through the British Society for Rheumatology Biologics Register; from November 2008 patients were recruited before starting a biologic and followed up prospectively for 12 months."; 3584; "BRAGGSS"; rdfs:label "Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13974 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13974; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4334684/fullTextXML"; rdfs:comment "BRAGGSS is a multicentre study collecting clinical, laboratory and adherence data on patients with RA who are starting treatment with biologic therapy in the UK." . _:31f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40567118+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate is a nationwide observational cohort study recruiting patients from 53 centers across the United Kingdom before the initiation of biologic treatment and following them up prospectively for 12 months." . _:31f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40567118"; "Comparative Effectiveness of Abatacept Versus Adalimumab in Shared Epitope Positive and Negative Patients With Rheumatoid Arthritis."; "PMID:40567118", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40567118+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate is a nationwide observational cohort study recruiting patients from 53 centers across the United Kingdom before the initiation of biologic treatment and following them up prospectively for 12 months." . _:31f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre observational study of patients with rheumatoid arthritis treated with biologic drugs at rheumatology centres across the United Kingdom, which collects their blood samples for DNA, RNA and cellular studies together with clinical, laboratory and adherence data, to study genetic and other predictors of response to biologic therapy. Its first patients, starting anti-TNF therapy, were identified through the British Society for Rheumatology Biologics Register; from November 2008 patients were recruited before starting a biologic and followed up prospectively for 12 months."; "PMID:23039402", "PMID:25213131", "PMID:30166627", "PMID:40567118"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3584; "BRAGGSS participants starting their first TNF inhibitor, data cut-off 30 November 2020 (a subset: other biologics excluded)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10907806/fullTextXML"; rdfs:comment "Of 3584 participants starting TNFi, 3459 had IMD data to allow analysis." . _:31f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRAGGSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13981, _:genid-371333f489424440b12a13b9d98ced822608-genid13983; , , ; "PMID:32762905"; "A case-control study of first-onset acute myocardial infarction in Bangladesh, established in 2011 by the University of Cambridge with the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) and the National Institute of Cardiovascular Disease (NICVD) in Dhaka, whose cases are adults admitted to the NICVD's emergency rooms with a first myocardial infarction and whose controls, frequency-matched by age and sex, are hospital visitors without cardiovascular disease; with questionnaire data, electrocardiograms and stored blood samples, it was set up to study environmental, genetic, lifestyle and biochemical determinants of coronary heart disease in Bangladeshis."; "The acronym BRAVE also denotes Bicuspid aoRtic vAlVe gEnetic research (COHO:0001442); this term is Bangladesh Risk of Acute Vascular Events Study."@en; 8133; 8124; "BRAVE"; rdfs:label "Bangladesh Risk of Acute Vascular Events Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13981 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13983 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:31f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13981; "coronary heart disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "We next performed whole-genome sequencing in 500 individuals recruited in Dhaka, Bangladesh, as part of the Bangladesh Risk of Acute Vascular Events (BRAVE) study, a case-control study of first-onset acute myocardial infarction." . _:31fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13983; "myocardial infarction"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "We next performed whole-genome sequencing in 500 individuals recruited in Dhaka, Bangladesh, as part of the Bangladesh Risk of Acute Vascular Events (BRAVE) study, a case-control study of first-onset acute myocardial infarction." . _:31fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "We next performed whole-genome sequencing in 500 individuals recruited in Dhaka, Bangladesh, as part of the Bangladesh Risk of Acute Vascular Events (BRAVE) study, a case-control study of first-onset acute myocardial infarction." . _:31fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32762905"; "Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians."; "PMID:32762905", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "We next performed whole-genome sequencing in 500 individuals recruited in Dhaka, Bangladesh, as part of the Bangladesh Risk of Acute Vascular Events (BRAVE) study, a case-control study of first-onset acute myocardial infarction." . _:31fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of first-onset acute myocardial infarction in Bangladesh, established in 2011 by the University of Cambridge with the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) and the National Institute of Cardiovascular Disease (NICVD) in Dhaka, whose cases are adults admitted to the NICVD's emergency rooms with a first myocardial infarction and whose controls, frequency-matched by age and sex, are hospital visitors without cardiovascular disease; with questionnaire data, electrocardiograms and stored blood samples, it was set up to study environmental, genetic, lifestyle and biochemical determinants of coronary heart disease in Bangladeshis."; "PMID:25930055", "PMID:39811539"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:31fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8133; "first-onset MI cases and controls recruited in Bangladesh (2024 risk-factor analysis)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11730263/fullTextXML"; rdfs:comment "In a case–control study involving 8133 first-onset MI cases and 8124 controls recruited in Bangladesh, we calculated odds ratios (ORs) for MI adjusted, for age, sex, smoking status, history of diabetes, history of hypertension, family history of MI, and LDL-cholesterol." . _:31ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8124; "first-onset MI cases and controls recruited in Bangladesh (2024 risk-factor analysis)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11730263/fullTextXML"; rdfs:comment "In a case–control study involving 8133 first-onset MI cases and 8124 controls recruited in Bangladesh, we calculated odds ratios (ORs) for MI adjusted, for age, sex, smoking status, history of diabetes, history of hypertension, family history of MI, and LDL-cholesterol." . _:32002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRAVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid13991, _:genid-371333f489424440b12a13b9d98ced822608-genid13993, _:genid-371333f489424440b12a13b9d98ced822608-genid13995, _:genid-371333f489424440b12a13b9d98ced822608-genid13997, _:genid-371333f489424440b12a13b9d98ced822608-genid13999; , ; "PMID:21203820"; "A population-based case-control study of bladder cancer in the Belgian province of Limburg, whose cases are people with histologically confirmed incident transitional cell carcinoma of the bladder diagnosed between 1999 and 2004, identified through the Limburg Cancer Registry and invited by their urologists and general practitioners, and whose controls are inhabitants of the province aged 50 or over sampled at random through the Crossroads Bank of Social Security, stratified by municipality and socioeconomic status; it was used to study occupational, dietary and genetic risk factors for bladder cancer."; 200; 386; 586; "BSBC", "Belgian Case Control Study of Bladder Cancer", "Belgian case control study on bladder cancer", "Belgian case control study on bladder cancer risk", "Belgian case-control study on bladder cancer", "LIKAR"; rdfs:label "Belgian case-control study on bladder cancer risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid13991 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13993 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13995 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13997 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid13999 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13991; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21203820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A semi-quantitative 322 item food frequency questionnaire (FFQ) was used to collect dietary data from 200 bladder cancer cases and 386 control subjects participating in the Belgian case-control study on bladder cancer risk." . _:32022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13993; "fruit and vegetable consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16504378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate the association between occupational exposure to polycyclic aromatic hydrocarbons, aromatic amines and diesel and bladder cancer risk and the modification by smoking and metabolic polymorphisms, have we recruited 200 cases and 385 population controls." . _:32032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13995; "dietary intake of micronutrients"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16504378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate the association between occupational exposure to polycyclic aromatic hydrocarbons, aromatic amines and diesel and bladder cancer risk and the modification by smoking and metabolic polymorphisms, have we recruited 200 cases and 385 population controls." . _:32042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13997; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16504378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate the association between occupational exposure to polycyclic aromatic hydrocarbons, aromatic amines and diesel and bladder cancer risk and the modification by smoking and metabolic polymorphisms, have we recruited 200 cases and 385 population controls." . _:32052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid13999; "occupational exposure to polycyclic aromatic hydrocarbons, aromatic amines and diesel"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16504378+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate the association between occupational exposure to polycyclic aromatic hydrocarbons, aromatic amines and diesel and bladder cancer risk and the modification by smoking and metabolic polymorphisms, have we recruited 200 cases and 385 population controls." . _:32062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16380991+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A population-based case-control study was performed in the Belgian province of Limburg among 200 cases and 385 controls." . _:32072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21203820"; "Dietary intake of micronutrients and the risk of developing bladder cancer: results from the Belgian case-control study on bladder cancer risk."; "PMID:21203820", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21203820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A semi-quantitative 322 item food frequency questionnaire (FFQ) was used to collect dietary data from 200 bladder cancer cases and 386 control subjects participating in the Belgian case-control study on bladder cancer risk." . _:32082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of bladder cancer in the Belgian province of Limburg, whose cases are people with histologically confirmed incident transitional cell carcinoma of the bladder diagnosed between 1999 and 2004, identified through the Limburg Cancer Registry and invited by their urologists and general practitioners, and whose controls are inhabitants of the province aged 50 or over sampled at random through the Crossroads Bank of Social Security, stratified by municipality and socioeconomic status; it was used to study occupational, dietary and genetic risk factors for bladder cancer."; "PMID:16380991", "PMID:16504378", "PMID:21203820", "PMID:27386115"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "bladder cancer cases and population controls in the study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3042097/fullTextXML"; rdfs:comment "Two-tailed p values < 0.05 were considered to reflect statistical significance.ResultsA total of 586 participants (200 cases and 386 controls) were included in the study." . _:320a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 386; "bladder cancer cases and population controls in the study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3042097/fullTextXML"; rdfs:comment "Two-tailed p values < 0.05 were considered to reflect statistical significance.ResultsA total of 586 participants (200 cases and 386 controls) were included in the study." . _:320b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 586; "bladder cancer cases and population controls in the study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3042097/fullTextXML"; rdfs:comment "Two-tailed p values < 0.05 were considered to reflect statistical significance.ResultsA total of 586 participants (200 cases and 386 controls) were included in the study." . _:320c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSBC"; . _:320d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIKAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14009; , ; ; "PMID:32424353"; "A case-control study of breast cancer in Germany whose cases are women diagnosed with breast cancer in 2007-2009 at the University Women's Clinic Heidelberg and whose controls are female blood donors recruited in the same years at the Institute of Transfusion Medicine and Immunology in Mannheim; it is one of the studies of the Breast Cancer Association Consortium."; 848; 954; "BSUCH", "Breast Cancer Study of the University of Heidelberg"; rdfs:label "Breast Cancer Study of the University Clinic Heidelberg"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14009 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:320e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14009; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/supplementaryFiles"; rdfs:comment "BSUCH Breast Cancer Study of the University Clinic Heidelberg 13 Germany All cases diagnosed with breast cancer in 2007-2009 at the University Women`s Clinic Heidelberg Female blood donors recruited in 2007- 2009 at the Institute of Transfusion Medicine & Immunology, Mannheim." . _:320f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/supplementaryFiles"; rdfs:comment "BSUCH Breast Cancer Study of the University Clinic Heidelberg 13 Germany All cases diagnosed with breast cancer in 2007-2009 at the University Women`s Clinic Heidelberg Female blood donors recruited in 2007- 2009 at the Institute of Transfusion Medicine & Immunology, Mannheim." . _:32102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The BSUCH study was supported by the Dietmar-Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ)." . _:32112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer in Germany whose cases are women diagnosed with breast cancer in 2007-2009 at the University Women's Clinic Heidelberg and whose controls are female blood donors recruited in the same years at the Institute of Transfusion Medicine and Immunology in Mannheim; it is one of the studies of the Breast Cancer Association Consortium."; "PMID:22267197", "PMID:23535729", "PMID:32424353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 848; "cases and controls after quality control in the BCAC iCOGS genotyping (analysed subset), 2013"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "BSUCH Breast Cancer Study of the University Clinic Heidelberg 13 Germany All cases diagnosed with breast cancer in 2007- 2009 at the University Women`s Clinic Heidelberg. Female blood donors recruited in 2007- 2009 at the Institute of Transfusion Medicine & Immunology, Mannheim. 848 954" . _:32132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 954; "cases and controls after quality control in the BCAC iCOGS genotyping (analysed subset), 2013"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "BSUCH Breast Cancer Study of the University Clinic Heidelberg 13 Germany All cases diagnosed with breast cancer in 2007- 2009 at the University Women`s Clinic Heidelberg. Female blood donors recruited in 2007- 2009 at the Institute of Transfusion Medicine & Immunology, Mannheim. 848 954" . _:32142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BSUCH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14017; , , ; "PMID:22961080"; "A type 2 diabetes case-control sample of unrelated Han Chinese from Beijing, China, made up of people with type 2 diabetes and nondiabetic controls, used in genetic association studies of type 2 diabetes and glycaemic traits."; "BTDS"; rdfs:label "Beijing Type 2 Diabetes Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14017 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14017; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 2 samples for replication testing of 96 single nucleotide polymorphisms (SNPs) consisted of 13,517 unrelated Chinese Hans (6,570 T2D case and 6,947 nondiabetic control subjects) from the Guizhou-Bijie Type 2 Diabetes Study (GBTDS), the Beijing Type 2 Diabetes Studies (BTDS), and the Hubei Type 2 Diabetes Studies (HTDS)." . _:32162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 2 samples for replication testing of 96 single nucleotide polymorphisms (SNPs) consisted of 13,517 unrelated Chinese Hans (6,570 T2D case and 6,947 nondiabetic control subjects) from the Guizhou-Bijie Type 2 Diabetes Study (GBTDS), the Beijing Type 2 Diabetes Studies (BTDS), and the Hubei Type 2 Diabetes Studies (HTDS)." . _:32172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22961080"; "A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans."; "PMID:22961080", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 2 samples for replication testing of 96 single nucleotide polymorphisms (SNPs) consisted of 13,517 unrelated Chinese Hans (6,570 T2D case and 6,947 nondiabetic control subjects) from the Guizhou-Bijie Type 2 Diabetes Study (GBTDS), the Beijing Type 2 Diabetes Studies (BTDS), and the Hubei Type 2 Diabetes Studies (HTDS)." . _:32182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control sample of unrelated Han Chinese from Beijing, China, made up of people with type 2 diabetes and nondiabetic controls, used in genetic association studies of type 2 diabetes and glycaemic traits."; "PMID:22961080", "PMID:25993007"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BTDS"; . a owl:NamedIndividual, ; , ; ; "PMID:21655089"; "A study of the Queensland Institute of Medical Research (QIMR) in Brisbane, Australia, that from 1992 to 2016 examined annual new samples of 12-year-old twins from south-east Queensland, with their siblings nearest in age, counting their naevi and recording their sun behaviour, and re-examined them two years later; set up to investigate genetic factors in naevus development and other risk factors for melanoma, it also includes the twins' parents and is the twin mole study of the Brisbane Longitudinal Twin Study."; 3957; "BTNS", "Brisbane Twin Naevus Study", "TWin Mole study"; rdfs:label "Brisbane Twin Nevus Study"@en . _:321a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13106845/fullTextXML"; rdfs:comment "The BTNS cohort has measurements for iris nevi in addition to the skin nevi used in the nevus GWAS meta-analysis. The cohort comprises a sample of predominantly adolescent twins (age 9–23 years) and their parents from Southeastern Queensland, Australia." . _:321b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5540428/fullTextXML"; rdfs:comment "SPHERE-34 was administered as part of three main projects that make up the Brisbane Longitudinal Twin Study (BLTS; also known as the Brisbane Adolescent Twin Study (BATS)) [8]. The first two waves of data were collected in the clinic, following an assessment of Melanocyte Naevi (moles) around the twelfth (TWin Mole study visit 1: TW1) and fourteenth birthday of the twins (TWin Mole study visit 2: TW2)" . _:321c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21655089"; "Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer."; "PMID:21655089", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3107194/fullTextXML"; rdfs:comment "The 2,353 controls were derived from Queensland or Melbourne: for the former, the controls came from the Brisbane Twin Nevus Study [16]; for the latter, individuals were participants in the Genes in Myopia study [17]." . _:321d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of the Queensland Institute of Medical Research (QIMR) in Brisbane, Australia, that from 1992 to 2016 examined annual new samples of 12-year-old twins from south-east Queensland, with their siblings nearest in age, counting their naevi and recording their sun behaviour, and re-examined them two years later; set up to investigate genetic factors in naevus development and other risk factors for melanoma, it also includes the twins' parents and is the twin mole study of the Brisbane Longitudinal Twin Study."; "PMID:24949998", "PMID:28764680", "PMID:40576277", "PMID:41807453"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:321e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3957; "12-year-old twins and nearest-age siblings examined 1992-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40576277+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Among 3957 participants (158 per year), we saw an approximate halving of naevus counts over the 25-year period, and examined multiple explanations for this trend." . _:321f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BTNS"; . a owl:NamedIndividual, ; , ; "PMID:24068962"; "A repeated cross-sectional population-based health examination survey of adults living in the canton of Geneva, Switzerland, which since 1992 has examined in a mobile unit, each year, a new random sample of residents drawn from the cantonal residents list and stratified by age and sex, collecting questionnaires, physical measurements and blood samples on risk factors for cardiovascular and other lifestyle-related chronic diseases."; 20000; "Bus Sante", "Bus Santé study", "Bus santé", "BusSante"; rdfs:label "Bus Santé"@en . _:32202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10209490/fullTextXML"; rdfs:comment "We used data from the Bus Santé study, an ongoing yearly population-based cross-sectional study of adults living in the state of Geneva, Switzerland." . _:32212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24068962"; "Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations."; "PMID:24068962", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3778004/fullTextXML"; rdfs:comment "We replicated findings using de novo genotyping in the Bus Santé Study and in silico data in all other cohorts." . _:32222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A repeated cross-sectional population-based health examination survey of adults living in the canton of Geneva, Switzerland, which since 1992 has examined in a mobile unit, each year, a new random sample of residents drawn from the cantonal residents list and stratified by age and sex, collecting questionnaires, physical measurements and blood samples on risk factors for cardiovascular and other lifestyle-related chronic diseases."; "PMID:37250185", "PMID:39081844", "PMID:40235578"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20000; "Geneva residents examined since 1992 (a lower bound: 'more than')"; "https://www.specchio-hub.ch/en/studies/bus-sante"; rdfs:comment "More than 20,000 Geneva residents have already participated in the Bus Santé study since it was launched in 1992." . _:32242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BusSante"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14034, _:genid-371333f489424440b12a13b9d98ced822608-genid14036, _:genid-371333f489424440b12a13b9d98ced822608-genid14038; , ; "PMID:30158200"; "A prospective community-based cohort of postmenopausal women and men aged 50 years and older who attended a primary care centre in Camargo, Cantabria, in northern Spain, for a regular health examination or for medical reasons, enrolled between February 2006 and February 2011 and re-evaluated in later waves to study the prevalence and incidence of metabolic bone diseases and the risk factors for osteoporosis and fragility fractures."; 2997; "CABRIO-C", "Cabrio-C", "Camargo Cohort", "Camargo cohort", "Camargo cohort study", "Cantabria-Camargo", "Cantabria-Camargo study"; rdfs:label "Camargo Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14034 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14036 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14038 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14034; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9338160/fullTextXML"; rdfs:comment "The study was carried out with people included in the Camargo cohort, a prospective community-based cohort designed to evaluate the prevalence and incidence of metabolic bone diseases and risk factors for osteoporosis and fragility fractures." . _:32262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14036; "fragility fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9338160/fullTextXML"; rdfs:comment "The study was carried out with people included in the Camargo cohort, a prospective community-based cohort designed to evaluate the prevalence and incidence of metabolic bone diseases and risk factors for osteoporosis and fragility fractures." . _:32272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14038; "metabolic bone diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9338160/fullTextXML"; rdfs:comment "The study was carried out with people included in the Camargo cohort, a prospective community-based cohort designed to evaluate the prevalence and incidence of metabolic bone diseases and risk factors for osteoporosis and fragility fractures." . _:32282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9811290/fullTextXML"; rdfs:comment "The Camargo cohort was set up with postmenopausal women and men aged 50 years or older who attended a primary care centre in northern Spain for medical reasons or for their regular health examination, whichever occurred first." . _:32292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30158200"; "Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study."; "PMID:30158200", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6113773/fullTextXML"; rdfs:comment "Cantabria-Camargo study (Cabrio-C), Cantabria osteoporosis case-control study (Cabrio-CC): Instituto de Salud Carlos III-Fondo de Investigaciones Sanitarias Grants PI 06/34,PI09/539, PI12/615 and PI15/521 (that could be cofunded by European Union-FEDER funds)." . _:322a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective community-based cohort of postmenopausal women and men aged 50 years and older who attended a primary care centre in Camargo, Cantabria, in northern Spain, for a regular health examination or for medical reasons, enrolled between February 2006 and February 2011 and re-evaluated in later waves to study the prevalence and incidence of metabolic bone diseases and the risk factors for osteoporosis and fragility fractures."; "PMID:35906442", "PMID:37924421", "PMID:40983397"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:322b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2997; "all subjects enrolled at baseline 2006-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11031476/fullTextXML"; rdfs:comment "In the present study, 2997 serum samples from all the subjects included in the Camargo Cohort have been analyzed." . _:322c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CABRIO-C"; . _:322d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cabrio-C"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14046; , ; "PMID:30158200"; "A clinic-based, cross-sectional case-control study of patients with osteoporosis and control individuals, including volunteers, living in Cantabria in northern Spain and recruited in Santander, used to study genetic and hormonal determinants of bone mineral density and osteoporotic fracture."; 2321; "CABRIO-CC", "Cabrio-CC", "Cantabria osteoporosis case-control study"; rdfs:label "Cantabria Osteoporosis Case-control"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14046 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:322e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14046; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6113773/supplementaryFiles"; rdfs:comment "Clinic-based study of control individuals and patients with osteoporosis living in Cantabria, a region in Northern Spain" . _:322f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6113773/supplementaryFiles"; rdfs:comment "Clinic-based study of control individuals and patients with osteoporosis living in Cantabria, a region in Northern Spain" . _:32302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30158200"; "Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study."; "PMID:30158200", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6113773/fullTextXML"; rdfs:comment "Cantabria-Camargo study (Cabrio-C), Cantabria osteoporosis case-control study (Cabrio-CC): Instituto de Salud Carlos III-Fondo de Investigaciones Sanitarias Grants PI 06/34,PI09/539, PI12/615 and PI15/521 (that could be cofunded by European Union-FEDER funds)." . _:32312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based, cross-sectional case-control study of patients with osteoporosis and control individuals, including volunteers, living in Cantabria in northern Spain and recruited in Santander, used to study genetic and hormonal determinants of bone mineral density and osteoporotic fracture."; "PMID:17118999", "PMID:17218734", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2321; "participants with DNA and BMD and/or fracture data (GEFOS replication sample), 2012"; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "CABRIO‐CC Cantabria Osteoporosis Case‐control Case‐control, cross‐sectional Clinic‐based plus volunteers Spain Santander Caucasian (Spanish) 2,321" . _:32332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CABRIO-CC"; . _:32342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cabrio-CC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14054; , ; ; "GCST001079"; "A German case-control study of coronary artery disease that pools patients with angiographically documented coronary artery disease from the hospital catheter-laboratory-based AtheroGene Registry, enrolled in 1999–2004 at Johannes Gutenberg University Mainz and the German Federal Armed Forces Central Hospital in Koblenz, with controls without a history of myocardial infarction from the population-based Gutenberg Heart Study of the city of Mainz and the Mainz-Bingen district, assembled for genome-wide association studies of coronary artery disease."; 2078; 2953; 5031; "CADomics", "CADomics Study", "CADomics study", "Cadomics", "Cadomics study", "Coronary Artery Disease and Omics", "Coronary Artery Disease and genomics"; ; rdfs:label "Coronary Artery Disease and Genomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14054; "coronary artery disease"; "https://ars.els-cdn.com/content/image/1-s2.0-S0140673610619964-mmc1.pdf"; rdfs:comment "CADomics (Coronary Artery Disease and genomics) is a German-based case-control study of CAD." . _:32362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S0140673610619964-mmc1.pdf"; rdfs:comment "CADomics (Coronary Artery Disease and genomics) is a German-based case-control study of CAD." . _:32372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001079"; "A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease."; "PMID:21606135", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3157552/unicode"; rdfs:comment "A GWA study using the Genome-Wide Human SNP 6.0 Array (Affymetrix, Santa Clara, USA) was conducted to discover SNPs associated with CAD in the CADomics study (Coronary Artery Disease and Genomics), a case-control study of CAD (2,078 CAD cases and 2,953 controls)." . _:32382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German case-control study of coronary artery disease that pools patients with angiographically documented coronary artery disease from the hospital catheter-laboratory-based AtheroGene Registry, enrolled in 1999–2004 at Johannes Gutenberg University Mainz and the German Federal Armed Forces Central Hospital in Koblenz, with controls without a history of myocardial infarction from the population-based Gutenberg Heart Study of the city of Mainz and the Mainz-Bingen district, assembled for genome-wide association studies of coronary artery disease."; "PMID:21606135", "https://ars.els-cdn.com/content/image/1-s2.0-S0140673610619964-mmc1.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2078; "CAD cases and population controls in the discovery GWAS (2011)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3157552/unicode"; rdfs:comment "A GWA study using the Genome-Wide Human SNP 6.0 Array (Affymetrix, Santa Clara, USA) was conducted to discover SNPs associated with CAD in the CADomics study (Coronary Artery Disease and Genomics), a case-control study of CAD (2,078 CAD cases and 2,953 controls)." . _:323a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2953; "CAD cases and population controls in the discovery GWAS (2011)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3157552/unicode"; rdfs:comment "A GWA study using the Genome-Wide Human SNP 6.0 Array (Affymetrix, Santa Clara, USA) was conducted to discover SNPs associated with CAD in the CADomics study (Coronary Artery Disease and Genomics), a case-control study of CAD (2,078 CAD cases and 2,953 controls)." . _:323b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5031; "CAD cases and population controls in the discovery GWAS (2011)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3157552/unicode"; rdfs:comment "A GWA study using the Genome-Wide Human SNP 6.0 Array (Affymetrix, Santa Clara, USA) was conducted to discover SNPs associated with CAD in the CADomics study (Coronary Artery Disease and Genomics), a case-control study of CAD (2,078 CAD cases and 2,953 controls)." . _:323c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CADomics"; . _:323d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cadomics"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14064; , ; , ; "GCST90002292"; "A population-based prospective cohort of men aged 45–59 years from the town of Caerphilly and its surrounding villages in South Wales, United Kingdom, identified from electoral rolls and general practice lists and first examined in 1979–1983 by the MRC Epidemiology Unit (South Wales) to study risk factors for coronary heart disease, then re-examined in later phases that added cognitive testing and follow-up for dementia and other chronic diseases."; "The acronym CaPS also denotes Cancer Prostate in Sweden (COHO:0000025) and Carotid Atherosclerosis Progression Study (COHO:0001566); this term is Caerphilly Prospective Study."@en; 2512; "CAPS", "CaPS", "CaPs", "CaePS", "Caerphilly Prospective Heart Disease study", "Caerphilly study"; ; rdfs:label "Caerphilly Prospective Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14064 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:323e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14064; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5295119/fullTextXML"; rdfs:comment "The CaPS was set up to study the influence of CVD risk factors in the development of coronary heart disease (CHD) [12], and recruited an initial 2512 men, aged 45 to 59 years living in the town of Caerphilly and five adjacent villages, South Wales, UK (response rate 89%)." . _:323f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37844990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Population-based, South Wales, UK." . _:32402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90002292"; "Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations."; "PMID:32888493", "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx"; rdfs:comment "The Caerphilly Prospective Study was undertaken by the former MRC Epidemiology Unit (South Wales) and was funded by the Medical Research Council of the United Kingdom." . _:32412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of men aged 45–59 years from the town of Caerphilly and its surrounding villages in South Wales, United Kingdom, identified from electoral rolls and general practice lists and first examined in 1979–1983 by the MRC Epidemiology Unit (South Wales) to study risk factors for coronary heart disease, then re-examined in later phases that added cognitive testing and follow-up for dementia and other chronic diseases."; "PMID:28106791", "PMID:37844990", "https://ars.els-cdn.com/content/image/1-s2.0-S0092867420308229-mmc1.xlsx", "https://www.thl.fi/publications/morgam/cohorts/full/uk/unk-caea.htm"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2512; "men aged 45-59 recruited at baseline (phase 1, 1979-1983)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5295119/fullTextXML"; rdfs:comment "The CaPS was set up to study the influence of CVD risk factors in the development of coronary heart disease (CHD) [12], and recruited an initial 2512 men, aged 45 to 59 years living in the town of Caerphilly and five adjacent villages, South Wales, UK (response rate 89%)." . _:32432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPS"; . _:32442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CaPS"; . _:32452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CaPs"; . _:32462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CaePS"; . a owl:NamedIndividual, ; , , ; , ; "PMID:36224396"; "An ongoing population-based cohort of people aged over 18 years in Amagasaki, Hyogo Prefecture, Japan, consecutively enrolled for a baseline examination between September 2002 and August 2003, which is one of the member studies of the Cardio-metabolic Genome Epidemiology (CAGE) Network and whose samples are used in genetic studies of blood pressure, lipids and other cardiometabolic traits."; 5745; "CAGE-AMA", "CAGE-Amagasaki", "CAGE-Amagasaki Study", "Cardio-metabolic Genome Epidemiology Network, Amagasaki", "Cardio-metabolic Genome Epidemiology Network, Amagasaki Study", "Cardio-metabolic Genome Epidemiology Study - Amagasaki"; rdfs:label "Amagasaki Study"@en . _:32472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3458872/fullTextXML"; rdfs:comment "A replication study of the previously identified variants at 22 candidate lipid loci was performed in the general Japanese population; from 5745 individuals consecutively enrolled in the population-based setting, which is known as Amagasaki Study [26], 4990 individuals without receiving current treatment for dyslipidemia were included in the present study (Table 1)." . _:32482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36224396"; "A saturated map of common genetic variants associated with human height."; "PMID:36224396", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9605867/supplementaryFiles"; rdfs:comment "CAGE-Amagasaki Cardio-metabolic Genome Epidemiology Network, Amagasaki" . _:32492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing population-based cohort of people aged over 18 years in Amagasaki, Hyogo Prefecture, Japan, consecutively enrolled for a baseline examination between September 2002 and August 2003, which is one of the member studies of the Cardio-metabolic Genome Epidemiology (CAGE) Network and whose samples are used in genetic studies of blood pressure, lipids and other cardiometabolic traits."; "PMID:23050023", "PMID:26648100", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.834/MediaObjects/41588_2011_BFng834_MOESM19_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:324a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5745; "individuals recruited at baseline, September 2002 to August 2003"; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.834/MediaObjects/41588_2011_BFng834_MOESM19_ESM.pdf"; rdfs:comment "The Amagasaki Study (CAGE-‐Amagasaki) is an ongoing population-‐based cohort study of 5,745 individuals (3,435 males and 2,310 females), aged >18 years and recruited for a baseline examination between September 2002 to August 2003" . _:324b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-AMA"; . _:324c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-Amagasaki"; . a owl:NamedIndividual, ; , , ; ; "PMID:20205615"; "A community-based prospective cohort of middle-aged and older Japanese men and women in Fukuoka, Japan, run by Kyushu University, who took part in a baseline survey with a questionnaire and DNA collection between February 2004 and August 2007 and are followed up to investigate lifestyle factors and genetic susceptibility to lifestyle-related diseases such as cardiovascular diseases, cancer and diabetes mellitus."; "The acronym CAGE-Fukuoka also denotes Fukuoka Colorectal Cancer Study (COHO:0001720); this term is Kyushu University Fukuoka Cohort Study."@en; 12959; "CAGE-FUK", "CAGE-Fukuoka", "Fukuoka Cohort", "Fukuoka Cohort Study", "Fukuoka Study"; rdfs:label "Kyushu University Fukuoka Cohort Study"@en . _:324d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3022068/fullTextXML"; rdfs:comment "For study of lifestyle-related diseases, the Fukuoka Cohort was constructed from 2003 to 2009 in Kyushu area in Japan, which contains a total of 12,949 persons." . _:324e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20205615"; "Relation of coffee consumption and serum liver enzymes in Japanese men and women with reference to effect modification of alcohol use and body mass index."; "PMID:20205615", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20205615+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The data were derived from the baseline survey of the Kyushu University Fukuoka Cohort Study, and included 12,020 Japanese men and women aged 49-76 years who were free of chronic liver diseases." . _:324f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort of middle-aged and older Japanese men and women in Fukuoka, Japan, run by Kyushu University, who took part in a baseline survey with a questionnaire and DNA collection between February 2004 and August 2007 and are followed up to investigate lifestyle factors and genetic susceptibility to lifestyle-related diseases such as cardiovascular diseases, cancer and diabetes mellitus."; "PMID:21297916", "PMID:24647736", "PMID:26648100", "PMID:34313618"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12959; "participants in the baseline survey, February 2004 to August 2007"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4673465/unicode"; rdfs:comment "The Kyushu University Fukuoka Cohort Study is a community-based prospective epidemiologic cohort of 12,959 subjects, who participated in the baseline survey during the period from February 2004 to August 2007." . _:32512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-FUK"; . _:32522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-Fukuoka"; . a owl:NamedIndividual, ; , , ; ; "PMID:24647736"; "A hospital-based prospective cohort at the National Center for Global Health and Medicine in Tokyo, Japan, whose participants, drawn from the hospital's clinical practice and annual medical check-ups, are enrolled for detailed examination of lifestyle and lifestyle-related diseases such as cardiovascular diseases, cancer and diabetes mellitus to investigate the relationship between genetic and non-genetic factors."; "CAGE-NCGM", "NCGM Hospital-based Cohort Study", "National Center for Global health and Medicine hospital-based cohort study"; rdfs:label "Hospital-based Cohort Study at the National Center for Global Health and Medicine"@en . _:32532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4673465/fullTextXML"; rdfs:comment "Subjects in the Tokyo district were selected from participants in the Hospital-based Cohort Study at the National Center for Global Health and Medicine (NCGM), Tokyo, to investigate lifestyle factors and genetic susceptibility for lifestyle-related diseases." . _:32542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24647736"; "Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians."; "PMID:24647736", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4284402/supplementaryFiles"; rdfs:comment "National Center for Global health and Medicine hospital-based cohort study (CAGE-NCGM) aims to prospectively investigate the relationship between genetic and non-genetic factors." . _:32552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based prospective cohort at the National Center for Global Health and Medicine in Tokyo, Japan, whose participants, drawn from the hospital's clinical practice and annual medical check-ups, are enrolled for detailed examination of lifestyle and lifestyle-related diseases such as cardiovascular diseases, cancer and diabetes mellitus to investigate the relationship between genetic and non-genetic factors."; "PMID:24647736", "PMID:26648100"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-NCGM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14090; , ; "PMID:20614474"; "A five-year randomised, double-blind, placebo-controlled trial of daily calcium carbonate supplementation for fracture prevention in ambulant, community-dwelling women aged 70 years or older, recruited in 1998 from the general population of Western Australia through the electoral roll, whose participants were followed after the trial ended in 2003 in two observational studies to 2013 and through linked Western Australian hospital and death records, the whole study being known as the Perth Longitudinal Study of Ageing Women."; 1460; "CAIFOS", "Calcium Intake Fracture Outcome study", "Calcium intake fracture outcome study", "LSAW", "Longitudinal Study of Aging in Women", "PLSAW", "Perth Longitudinal Study of Ageing Women", "Perth Longitudinal Study of Aging Women"; rdfs:label "Calcium Intake Fracture Outcome Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14090 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14090; "fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11240159/fullTextXML"; rdfs:comment "In 1998, the Calcium Intake Fracture Outcome Study (CAIFOS) began, which was a randomized controlled trial aimed at preventing fractures in women by providing them with daily calcium supplements for 5 yr." . _:32582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12673806/fullTextXML"; rdfs:comment "Ambulant, community-dwelling women aged ≥70 years were recruited from the general population of Western Australia through the electoral roll, a citizenship requirement that covers >98% of this age group." . _:32592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20614474"; "Calcium supplementation and the risks of atherosclerotic vascular disease in older women: results of a 5-year RCT and a 4.5-year follow-up."; "PMID:20614474", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20614474+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study used data from a published 5-year randomized, double-blinded, placebo-controlled trial [Calcium Intake Fracture Outcome Study (CAIFOS)]." . _:325a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A five-year randomised, double-blind, placebo-controlled trial of daily calcium carbonate supplementation for fracture prevention in ambulant, community-dwelling women aged 70 years or older, recruited in 1998 from the general population of Western Australia through the electoral roll, whose participants were followed after the trial ended in 2003 in two observational studies to 2013 and through linked Western Australian hospital and death records, the whole study being known as the Perth Longitudinal Study of Ageing Women."; "PMID:38477757", "PMID:41346785"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:325b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1460; "women randomised to calcium or placebo in 1998"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20614474+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The participants were 1460 women aged 75.1 ± 2.7 years at baseline (1998) recruited from the general population and randomized to receive 1200 mg of calcium carbonate daily or an identical placebo." . _:325c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAIFOS"; . _:325d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LSAW"; . _:325e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLSAW"; . a owl:NamedIndividual, ; , ; "PMID:25279460"; "A Finnish three-generation family study run by researchers at the University of Jyväskylä, built on the Calex study, a cohort of girls recruited in school grades 4 to 6 through schools in the city of Jyväskylä and its surroundings in Central Finland (some of whom first took part in a two-year randomised calcium, vitamin D and dairy supplementation trial) and followed through puberty for about 7.5 years; in 2007–2008 the girls, then young women, and their brothers, mothers, fathers, grandmothers and grandfathers were invited to the same bone, body-composition and blood measurements, to study the heritability and determinants of bone mass, body composition and related metabolic traits across generations."; 647; "CALEX family study", "CALEX-FAM", "Calex family study", "Calex-family", "Calex-family study"; rdfs:label "CALEX-family study"@en . _:325f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4184839/fullTextXML"; rdfs:comment "Briefly, 235 Finnish young women (mean age 18.3 yrs, range 16.1–21.4 yrs) participated in the laboratory tests in the year 2007–8." . _:32602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25279460"; "The associations of serum serotonin with bone traits are age- and gender-specific."; "PMID:25279460", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4184839/fullTextXML"; rdfs:comment "Subjects were part of the CALEX-family study and comprised 235 young women, 121 premenopausal women, 124 postmenopausal women, and 168 men." . _:32612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish three-generation family study run by researchers at the University of Jyväskylä, built on the Calex study, a cohort of girls recruited in school grades 4 to 6 through schools in the city of Jyväskylä and its surroundings in Central Finland (some of whom first took part in a two-year randomised calcium, vitamin D and dairy supplementation trial) and followed through puberty for about 7.5 years; in 2007–2008 the girls, then young women, and their brothers, mothers, fathers, grandmothers and grandfathers were invited to the same bone, body-composition and blood measurements, to study the heritability and determinants of bone mass, body composition and related metabolic traits across generations."; "PMID:19171028", "PMID:24358145", "PMID:25279460", "PMID:26439744"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 647; "family members with DNA and BMD and/or fracture data (GEFOS replication sample), 2012"; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "Calex‐family Calex‐family study Cohort Population‐based, fami Finland Jyväskylä and its surrondings North European 647" . _:32632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CALEX-FAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14104; , ; ; "PMID:31553449"; "A population-based case–control study of breast cancer in Mexican women aged 35 to 69, carried out from January 2004 to December 2007 in Mexico City, Monterrey and Veracruz by investigators of the Mexican National Institute of Public Health, in which women with newly diagnosed, untreated breast cancer were recruited at twelve public hospitals of the Mexican Social Security Institute, the Institute of Security and Social Services of State Workers and the Ministry of Health, and controls, frequency-matched to the cases by age, health-care institution and region, were chosen by multistage random household sampling; participants were interviewed on health, diet and physical activity, measured and gave blood samples, to study risk factors for breast cancer in Mexico."; 1000; 1074; 2074; "CAMA", "CAMA-Mexican Breast Cancer Study", "Cancer de Mama study", "Cáncer de Mama"; rdfs:label "Cancer de Mama"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14104 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14104; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7301155/supplementaryFiles"; rdfs:comment "The Cancer de Mama (CAMA) study is a population-based case-control study of breast cancer in Mexico City, Monterrey, and Veracruz, Mexico." . _:32652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7301155/supplementaryFiles"; rdfs:comment "The Cancer de Mama (CAMA) study is a population-based case-control study of breast cancer in Mexico City, Monterrey, and Veracruz, Mexico." . _:32662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31553449"; "A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women."; "PMID:31553449", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7301155/supplementaryFiles"; rdfs:comment "The Cancer de Mama (CAMA) study is a population-based case-control study of breast cancer in Mexico City, Monterrey, and Veracruz, Mexico." . _:32672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of breast cancer in Mexican women aged 35 to 69, carried out from January 2004 to December 2007 in Mexico City, Monterrey and Veracruz by investigators of the Mexican National Institute of Public Health, in which women with newly diagnosed, untreated breast cancer were recruited at twelve public hospitals of the Mexican Social Security Institute, the Institute of Security and Social Services of State Workers and the Ministry of Health, and controls, frequency-matched to the cases by age, health-care institution and region, were chosen by multistage random household sampling; participants were interviewed on health, diet and physical activity, measured and gave blood samples, to study risk factors for breast cancer in Mexico."; "PMID:20084545", "PMID:25805146", "PMID:30092822"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "breast cancer cases and matched population controls recruited 2004-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6085630/fullTextXML"; rdfs:comment "In the present case-control study, we examined the association between serum concentrations of thyroid hormones and BC in 2074 Mexican women who participated in the Cáncer de Mama (CAMA) study." . _:32692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1074; "breast cancer cases and matched population controls recruited 2004-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6085630/fullTextXML"; rdfs:comment "In the present case-control study, we examined the association between serum concentrations of thyroid hormones and BC in 2074 Mexican women who participated in the Cáncer de Mama (CAMA) study." . _:326a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2074; "breast cancer cases and matched population controls recruited 2004-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6085630/fullTextXML"; rdfs:comment "In the present case-control study, we examined the association between serum concentrations of thyroid hormones and BC in 2074 Mexican women who participated in the Cáncer de Mama (CAMA) study." . _:326b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14113; , , ; ; "PMID:20700438"; "A lung cancer case–control study of ethnic Han Chinese, carried out from 1997 to 2008, in which cases were recruited from Beijing and surrounding provinces at the Cancer Hospital of the Chinese Academy of Medical Sciences in Beijing, China, and cancer-free controls from the same region and period were drawn from a community nutritional survey, to study genetic susceptibility to lung cancer; its never-smoking women take part in the genome-wide association studies of the Female Lung Cancer Consortium in Asia."; 642; 334; "CAMSCH", "Chinese Academy of Medical Sciences Cancer Hospital", "Chinese Academy of Medical Sciences Cancer Hospital study"; rdfs:label "Chinese Academy of Medical Sciences Cancer Hospital Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14113 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:326c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14113; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2916850/fullTextXML"; rdfs:comment "Replication of the strongest signal, rs2736100 was performed in the remaining subjects of the GELAC study [13] as well as six studies of never-smoking Asian women with lung adenocarcinoma in East Asia." . _:326d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20700438"; "The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia."; "PMID:20700438", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2916850/fullTextXML"; rdfs:comment "The additional replication studies included the Chinese Academy of Medical Sciences Cancer Hospital study (CAMSCH) [16], Wuhan lung cancer study (WHLCS) [17], Seoul National University study (SNU) [18], Korea University Medical Center study (KUMC) [19], Kyungpook National University Hospital study (KNUH) [20] and Shanghai Women's Health Cohort Study (SWHS) [21], [22] (Table 1)." . _:326e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A lung cancer case–control study of ethnic Han Chinese, carried out from 1997 to 2008, in which cases were recruited from Beijing and surrounding provinces at the Cancer Hospital of the Chinese Academy of Medical Sciences in Beijing, China, and cancer-free controls from the same region and period were drawn from a community nutritional survey, to study genetic susceptibility to lung cancer; its never-smoking women take part in the genome-wide association studies of the Female Lung Cancer Consortium in Asia."; "PMID:20700438", "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:326f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 642; "never-smoking female cases and controls in the 2012 FLCCA GWAS (analysed subset only)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "CAMSCH Mainland China 642 555 32 334" . _:32702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 334; "never-smoking female cases and controls in the 2012 FLCCA GWAS (analysed subset only)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "CAMSCH Mainland China 642 555 32 334" . _:32712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMSCH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14120, _:genid-371333f489424440b12a13b9d98ced822608-genid14122; , ; "PMID:32393777"; "A Canadian lung cancer case–control sample, drawn as nested case–control sets for the OncoArray lung cancer genome-wide association project from three low-dose computed tomography screening programmes for smokers: the International Early Lung Cancer Action Program site in the Greater Toronto Area organised by Princess Margaret Hospital (enrolling since 2003), the PanCan study, which screened smokers aged 50 to 75 in eight cities across Canada from 2008 to 2011, and the screening programme of the British Columbia Cancer Agency (BCCA), which enrolled heavy smokers from 1990 to 2007."; 267; 463; 730; "CanSS", "Canadian Screening Study"; rdfs:label "Canadian screening study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14120 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14122 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14120; "smoking (ever smokers of more than 10 pack-years)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "It includes the nested case-control samples from 3 screening programs: IELCAP- Toronto: Ever smokers of more than 10 pack-years age 50 and above were eligible for the I-ELCAP screening program since 2003, and a total of 4782 individuals have been enrolled in the Greater Toronto Area." . _:32732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14122; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "It includes the nested case-control samples from 3 screening programs: IELCAP- Toronto: Ever smokers of more than 10 pack-years age 50 and above were eligible for the I-ELCAP screening program since 2003, and a total of 4782 individuals have been enrolled in the Greater Toronto Area." . _:32742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "A total of 9759 individuals participated in the CT screening program in Canada from these 3 programs." . _:32752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32393777"; "Protein-altering germline mutations implicate novel genes related to lung cancer development."; "PMID:32393777", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7214407/fullTextXML"; rdfs:comment "The 25 studies in the current discovery dataset included the Alpha-Tocopherol Beta-Carotene Cancer Prevention Study (ATBC), Canadian screening study (CANADA), Cancer de Pulmon en Asturias (CAPUA), Copenhagen lung cancer study (COPENHAGEN), Environment and Genetics in Lung Cancer Study Etiology (EAGLE), The Carotene and Retinol Efficacy Trial (FHCRC), Liverpool Lung Cancer Project (FIELD), German lung cancer study (GERMANY), Harvard Lung Cancer Study (HSPH), The IARC L2 Study (IARC), Israel study (ISRAEL), The Kentucky Lung Cancer Research (KENTUCKY), MD Anderson Cancer Center Study (MDACC), The Malmö Diet and Cancer Study (MDCS), Multiethnic Cohort Study (MEC), New England Lung Cancer Study (NELCS), The Nijmegen Lung Cancer Study (NIJMEGEN), Norway Lung Cancer Study (NORWAY), Northern Sweden Health and Disease Study (NSHDC), The Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial (PLCO), RESOLUCENT study (RESOLUCENT), Tampa Lung Cancer Study (TAMPA), Total Lung Cancer: Molecular Epidemiology of Lung Cancer Survival (TLC), The Mount-Sinai Hospital-Princess Margaret Study (TORONTO), The Vanderbilt Lung Cancer Study (VANDERBILT), whose details were shown in Supplementary Table 22." . _:32762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Canadian lung cancer case–control sample, drawn as nested case–control sets for the OncoArray lung cancer genome-wide association project from three low-dose computed tomography screening programmes for smokers: the International Early Lung Cancer Action Program site in the Greater Toronto Area organised by Princess Margaret Hospital (enrolling since 2003), the PanCan study, which screened smokers aged 50 to 75 in eight cities across Canada from 2008 to 2011, and the screening programme of the British Columbia Cancer Agency (BCCA), which enrolled heavy smokers from 1990 to 2007."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 267; "nested lung cancer cases and controls in the OncoArray lung cancer study (2017)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Canada Canadian screening study UHN, BCCA Lam/Tsao/Liu Canada screening cohort 2004-2011, 2008-2013 267 463 730" . _:32782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 463; "nested lung cancer cases and controls in the OncoArray lung cancer study (2017)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Canada Canadian screening study UHN, BCCA Lam/Tsao/Liu Canada screening cohort 2004-2011, 2008-2013 267 463 730" . _:32792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 730; "nested lung cancer cases and controls in the OncoArray lung cancer study (2017)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Canada Canadian screening study UHN, BCCA Lam/Tsao/Liu Canada screening cohort 2004-2011, 2008-2013 267 463 730" . _:327a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CanSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14131; , ; ; "PMID:29117387"; "A case–control study of more aggressive prostate cancer in men recruited from 2001 to 2004 at the major medical institutions of Cleveland, Ohio, United States (the Cleveland Clinic, University Hospitals of Cleveland and their affiliates), in which cases were newly diagnosed, histologically confirmed prostate cancers of higher grade, stage or prostate-specific antigen level, and age-matched controls were men without prostate cancer undergoing standard annual medical examinations at the same institutions, to study genetic and environmental risk factors for aggressive prostate cancer."; 1012; "CaP Genes", "CaP_Genes"; rdfs:label "Prostate Cancer Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14131 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:327b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14131; "aggressive prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3102736/fullTextXML"; rdfs:comment "We also included an additional 163 African American controls from the MEC that were frequency matched to cases on age.Prostate Cancer Genetics Study (CaP Genes)The African American component of this study population comprised 160 men: 75 cases diagnosed with more aggressive prostate cancer and 85 age-matched controls [38]." . _:327c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3102736/fullTextXML"; rdfs:comment "All subjects were recruited and frequency-matched on the major medical institutions in Cleveland, Ohio (i.e., the Cleveland Clinic, University Hospitals of Cleveland, and their affiliates) between 2001 and 2004." . _:327d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29117387"; "Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry."; "PMID:29117387", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Genetics Study CaP Genes AAPC GWAS 75 85 71 85 Case-control, Cleveland, OH, U.S." . _:327e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of more aggressive prostate cancer in men recruited from 2001 to 2004 at the major medical institutions of Cleveland, Ohio, United States (the Cleveland Clinic, University Hospitals of Cleveland and their affiliates), in which cases were newly diagnosed, histologically confirmed prostate cancers of higher grade, stage or prostate-specific antigen level, and age-matched controls were men without prostate cancer undergoing standard annual medical examinations at the same institutions, to study genetic and environmental risk factors for aggressive prostate cancer."; "PMID:16931544", "PMID:21602798", "PMID:21637779"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:327f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1012; "cases and controls in the 2001-2004 Cleveland case-control study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16931544+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate this, the authors undertook a case-control study (n = 1,012) of the association between NSAIDs and more advanced prostate cancer in Ohio men recruited between 2001 and 2004 and evaluated whether this association was modified by a functional polymorphism in the lymphotoxin alpha (LTA) gene (LTA C+80A, where the CC genotype results in higher LTA production)." . _:32802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CaP Genes"; . _:32812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CaP_Genes"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14139, _:genid-371333f489424440b12a13b9d98ced822608-genid14141, _:genid-371333f489424440b12a13b9d98ced822608-genid14143, _:genid-371333f489424440b12a13b9d98ced822608-genid14145, _:genid-371333f489424440b12a13b9d98ced822608-genid14147; , ; "PMID:29273806"; "A prenatally randomised controlled trial, begun in 1995 at university hospital-based centres in Vancouver and Winnipeg, Canada, of infants at high risk of asthma (with at least one first-degree relative with asthma or two with other IgE-mediated allergic diseases) identified before birth, whose families were assigned either to a multifaceted intervention in the first year of life (avoidance of house dust mite, pet allergens and environmental tobacco smoke, encouragement of breastfeeding with partially hydrolysed formula supplementation, and delayed introduction of solid foods) or to a control group, and whose children were followed as a birth cohort with paediatric allergist assessments to age 15, to test the primary prevention of asthma and allergy."; 545; "CAPPS", "Canadian Childhood Cohorts: Canadian Asthma Primary Prevention Study"; rdfs:label "Canadian Asthma Primary Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14139 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14141 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14143 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14145 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14147 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14139; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15100668+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We identified 545 high-risk infants on the basis of an immediate family history of asthma." . _:32832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14141; "pet allergen"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15100668+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Intervention measures included avoidance of house dust mite, pet allergen, and environmental tobacco smoke." . _:32842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14143; "breast-feeding and delayed introduction of solid foods"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15100668+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Intervention measures included avoidance of house dust mite, pet allergen, and environmental tobacco smoke." . _:32852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14145; "house dust mite allergen"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15100668+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Intervention measures included avoidance of house dust mite, pet allergen, and environmental tobacco smoke." . _:32862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14147; "environmental tobacco smoke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15100668+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Intervention measures included avoidance of house dust mite, pet allergen, and environmental tobacco smoke." . _:32872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The study had two recruitment centers in Canada, (Vancouver and Winnipeg)." . _:32882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Canadian Asthma Primary Prevention Study (CAPPS4 ) was initiated in 1995 to assess the effectiveness of a multifaceted intervention program on the primary prevention of asthma in high‐risk infants." . _:32892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prenatally randomised controlled trial, begun in 1995 at university hospital-based centres in Vancouver and Winnipeg, Canada, of infants at high risk of asthma (with at least one first-degree relative with asthma or two with other IgE-mediated allergic diseases) identified before birth, whose families were assigned either to a multifaceted intervention in the first year of life (avoidance of house dust mite, pet allergens and environmental tobacco smoke, encouragement of breastfeeding with partially hydrolysed formula supplementation, and delayed introduction of solid foods) or to a control group, and whose children were followed as a birth cohort with paediatric allergist assessments to age 15, to test the primary prevention of asthma and allergy."; "PMID:10891016", "PMID:15100668", "PMID:19566956", "PMID:35686384"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:328a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 545; "high-risk infants identified before birth and randomised"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10891016+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 545 high-risk infants (at least 1 first-degree relative with asthma or 2 first-degree relatives with other IgE-mediated allergic diseases) identified before birth." . _:328b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14154; , ; "PMID:12624278"; "A community-based prospective cohort study in Germany in which adults aged about 19 to 90, volunteers from among the members of a German primary health-care scheme, had vascular risk factors and carotid intima–media thickness measured by ultrasound at baseline and again after about three years, and were followed for about ten years for myocardial infarction, stroke, transient ischaemic attack and death, to study the progression of early carotid atherosclerosis and its value in predicting vascular events."; "The acronym CAPS also denotes Cancer Prostate in Sweden (COHO:0000025) and Caerphilly Prospective Study (COHO:0001555); this term is Carotid Atherosclerosis Progression Study."@en; 6962; "CAPS", "CAPS_b"; rdfs:label "Carotid Atherosclerosis Progression Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14154 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:328c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14154; "carotid atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16339465+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the Carotid Atherosclerosis Progression Study (CAPS; n=5056; age range 19 to 90 years; mean age 50.1 years), common carotid artery (CCA) IMT, bifurcation IMT, internal carotid artery IMT and vascular risk factors were evaluated at baseline." . _:328d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4254855/unicode"; rdfs:comment "In the Carotid Atherosclerosis Progression Study (CAPS), members of a German primary healthcare scheme were invited of whom 6,962 participants (attendance rate 21%) agreed to take part." . _:328e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12624278"; "Promoter polymorphism in the endotoxin receptor (CD14) is associated with increased carotid atherosclerosis only in smokers: the Carotid Atherosclerosis Progression Study (CAPS)."; "PMID:12624278", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12624278+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Promoter polymorphism in the endotoxin receptor (CD14) is associated with increased carotid atherosclerosis only in smokers: the Carotid Atherosclerosis Progression Study (CAPS)." . _:328f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort study in Germany in which adults aged about 19 to 90, volunteers from among the members of a German primary health-care scheme, had vascular risk factors and carotid intima–media thickness measured by ultrasound at baseline and again after about three years, and were followed for about ten years for myocardial infarction, stroke, transient ischaemic attack and death, to study the progression of early carotid atherosclerosis and its value in predicting vascular events."; "PMID:15243147", "PMID:16339465", "PMID:17332447", "PMID:20431077", "PMID:22617119"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6962; "members of a primary health-care scheme who agreed to take part at baseline"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4254855/unicode"; rdfs:comment "In the Carotid Atherosclerosis Progression Study (CAPS), members of a German primary healthcare scheme were invited of whom 6,962 participants (attendance rate 21%) agreed to take part." . _:32912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPS"; . _:32922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14162; , ; ; "PMID:28604730"; "A hospital-based case–control study of lung cancer in Asturias, northern Spain, run by the Molecular Epidemiology of Cancer Unit of the University Institute of Oncology of the University of Oviedo, which from October 2000 used a standard protocol to recruit incident, histologically confirmed lung cancer cases aged 30 to 85 living in the areas of the main hospitals of Asturias (in Gijón, Avilés, Oviedo and Mieres), with controls admitted to the same hospitals for conditions unrelated to the exposures studied and individually matched by ethnicity, sex, age and hospital; participants were interviewed on tobacco, diet, occupation and environmental exposures and gave blood or mouthwash samples, to study lifestyle, occupational and genetic risk factors for lung cancer."; 877; 840; "CAPUA", "CAncer de PUlmon en Asturias", "Cancer de Pulmon en Asturias", "Cancer de Pulmon en Asturias study", "Lung Cancer in Asturias", "The Cancer de Pulmon en Asturias study"; rdfs:label "Cáncer de Pulmón en Asturias"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14162 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14162; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3518149/fullTextXML"; rdfs:comment "A hospital-based case–control study (CAPUA Study) was designed including 789 lung cancer patients and 789 control subjects matched in ethnicity, age, sex, and hospital." . _:32942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The CAncer de PUlmon en Asturias (CAPUA study) is a hospital-based case-control study conducted in Asturias, Spain by the University of Oviedo." . _:32952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The CAncer de PUlmon en Asturias (CAPUA study) is a hospital-based case-control study conducted in Asturias, Spain by the University of Oviedo." . _:32962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung cancer in Asturias, northern Spain, run by the Molecular Epidemiology of Cancer Unit of the University Institute of Oncology of the University of Oviedo, which from October 2000 used a standard protocol to recruit incident, histologically confirmed lung cancer cases aged 30 to 85 living in the areas of the main hospitals of Asturias (in Gijón, Avilés, Oviedo and Mieres), with controls admitted to the same hospitals for conditions unrelated to the exposures studied and individually matched by ethnicity, sex, age and hospital; participants were interviewed on tobacco, diet, occupation and environmental exposures and gave blood or mouthwash samples, to study lifestyle, occupational and genetic risk factors for lung cancer."; "PMID:23013535", "PMID:28604730", "PMID:28819433"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 877; "incident lung cancer cases and hospital controls recruited October 2000 to December 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5560148/fullTextXML"; rdfs:comment "All 877 cases and 840 controls were Caucasian." . _:32982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 840; "incident lung cancer cases and hospital controls recruited October 2000 to December 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5560148/fullTextXML"; rdfs:comment "All 877 cases and 840 controls were Caucasian." . _:32992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAPUA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14170; , , ; "PMID:27174798"; "A multicentre, randomised, double-blind, placebo-controlled trial of atorvastatin 10 mg daily for the primary prevention of cardiovascular disease in men and women aged 40–75 with type 2 diabetes, no history of cardiovascular disease, LDL cholesterol of 4.14 mmol/l or less and at least one further risk factor (retinopathy, albuminuria, current smoking or hypertension), who were randomised between November 1997 and June 2001 at centres in the United Kingdom and Ireland. It was run as a collaboration of Diabetes UK, the NHS Research and Development Directorate and Pfizer UK, and was stopped early when its prespecified efficacy criterion was met."; 2838; "CARDS", "Collaborative AtoRvastatin Diabetes Study", "Collaborative Atorvastatin Diabetes Trial", "Collaborative Atorvastatin in Diabetes Trial"; rdfs:label "Collaborative Atorvastatin Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:329a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14170; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705133/fullTextXML"; rdfs:comment "In brief, CARDS was a multicentre, randomised, placebo-controlled trial in 2,838 patients with type 2 diabetes aged 40–75 years carried out in 132 centres in the UK and Ireland." . _:329b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4705133/fullTextXML"; rdfs:comment "In brief, CARDS was a multicentre, randomised, placebo-controlled trial in 2,838 patients with type 2 diabetes aged 40–75 years carried out in 132 centres in the UK and Ireland." . _:329c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27174798"; "Development and Validation of a Model to Predict Absolute Vascular Risk Reduction by Moderate-Intensity Statin Therapy in Individual Patients With Type 2 Diabetes Mellitus: The Anglo Scandinavian Cardiac Outcomes Trial, Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial, and Collaborative Atorvastatin Diabetes Study."; "PMID:27174798", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27174798+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "External validation of the model was performed in data from the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT-LLT; pravastatin 40 mg versus usual care) and Collaborative Atorvastatin Diabetes Study (CARDS; atorvastatin 10 mg versus placebo) of 3878 and 2838 patients with type 2 diabetes mellitus, respectively." . _:329d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, double-blind, placebo-controlled trial of atorvastatin 10 mg daily for the primary prevention of cardiovascular disease in men and women aged 40–75 with type 2 diabetes, no history of cardiovascular disease, LDL cholesterol of 4.14 mmol/l or less and at least one further risk factor (retinopathy, albuminuria, current smoking or hypertension), who were randomised between November 1997 and June 2001 at centres in the United Kingdom and Ireland. It was run as a collaboration of Diabetes UK, the NHS Research and Development Directorate and Pfizer UK, and was stopped early when its prespecified efficacy criterion was met."; "PMID:11918622", "PMID:15325833", "PMID:25899452"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:329e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2838; "patients randomised to atorvastatin or placebo, 1997-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15325833+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "2838 patients aged 40-75 years in 132 centres in the UK and Ireland were randomised to placebo (n=1410) or atorvastatin 10 mg daily (n=1428)." . _:329f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14177, _:genid-371333f489424440b12a13b9d98ced822608-genid14179; , , ; "PMID:25748612"; "A randomised, double-blind, placebo-controlled secondary-prevention trial of pravastatin 40 mg daily in men and postmenopausal women aged 21–75 who had had a myocardial infarction 3 to 20 months earlier and had average cholesterol levels (total cholesterol below 240 mg/dl and LDL cholesterol of 115–174 mg/dl), enrolled at 80 hospitals and affiliated centres in the United States and Canada and followed for about five years to test whether lowering cholesterol reduces fatal coronary heart disease and nonfatal myocardial infarction. It was initiated by its investigators and funded by Bristol-Myers Squibb."; "The acronym CARE also denotes Los Angeles component of The Womens Contraceptive and Reproductive Experiences Study (COHO:0000110), Canadian Airways Research Group (COHO:0000229), Childhood Asthma Research and Education Network (COHO:0001570) and Candidate Gene Association Resource (COHO:0001586); this term is Cholesterol and Recurrent Events."@en; 4159; "CARE", "CARE_b", "Cholesterol and Recurrent Events study", "Cholesterol and Recurrent Events trial"; rdfs:label "Cholesterol and Recurrent Events"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14177 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14179 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14177; "coronary heart disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4608367/unicode"; rdfs:comment "CARE was a secondary-prevention trial that investigated the clinical benefit of pravastatin 40 mg daily versus placebo in individuals with prior MI who had total cholesterol ≤240 mg/dL and LDL cholesterol between 115 and 174 mg/dL." . _:32a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14179; "myocardial infarction"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4608367/unicode"; rdfs:comment "CARE was a secondary-prevention trial that investigated the clinical benefit of pravastatin 40 mg daily versus placebo in individuals with prior MI who had total cholesterol ≤240 mg/dL and LDL cholesterol between 115 and 174 mg/dL." . _:32a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9841599+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "80 hospitals and affiliates in the United States and Canada." . _:32a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25748612"; "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials."; "PMID:25748612", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4608367/unicode"; rdfs:comment "CARE was a secondary-prevention trial that investigated the clinical benefit of pravastatin 40 mg daily versus placebo in individuals with prior MI who had total cholesterol ≤240 mg/dL and LDL cholesterol between 115 and 174 mg/dL." . _:32a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled secondary-prevention trial of pravastatin 40 mg daily in men and postmenopausal women aged 21–75 who had had a myocardial infarction 3 to 20 months earlier and had average cholesterol levels (total cholesterol below 240 mg/dl and LDL cholesterol of 115–174 mg/dl), enrolled at 80 hospitals and affiliated centres in the United States and Canada and followed for about five years to test whether lowering cholesterol reduces fatal coronary heart disease and nonfatal myocardial infarction. It was initiated by its investigators and funded by Bristol-Myers Squibb."; "PMID:16714328", "PMID:1746424", "PMID:7572695", "PMID:8801446", "PMID:9841599"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4159; "patients randomised (3583 men, 576 women)"; "PMID:8801446"; rdfs:comment "In a double-blind trial lasting five years we administered either 40 mg of pravastatin per day or placebo to 4159 patients (3583 men and 576 women) with myocardial infarction who had plasma total cholesterol levels below 240 mg per deciliter (mean, 209) and low-density lipoprotein (LDL) cholesterol levels of 115 to 174 mg per deciliter (mean, 139)." . _:32a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE"; . _:32a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14187; , ; ; "PMID:22792082"; "A paediatric asthma clinical research network created in 1999 by the US National Heart, Lung, and Blood Institute, made up of five clinical centres (University of California, San Diego; University of Arizona, Tucson; Washington University, St. Louis; University of Wisconsin, Madison; National Jewish Medical and Research Center, Denver) and a data coordinating centre at Penn State University, Hershey, to evaluate new and existing asthma therapies in children through multicentre randomised clinical trials. Its trial cohorts include the Prevention of Early Asthma in Kids (PEAK) trial in preschool children at high risk of asthma and the CLIC and PACT trials in school-aged children with mild-to-moderate persistent asthma."; "The acronym CARE also denotes Los Angeles component of The Womens Contraceptive and Reproductive Experiences Study (COHO:0000110), Canadian Airways Research Group (COHO:0000229), Cholesterol and Recurrent Events (COHO:0001569) and Candidate Gene Association Resource (COHO:0001586); this term is Childhood Asthma Research and Education Network."@en; "CARE", "CARE Network", "CARE_c", "Childhood Asthma Research and Education", "Childhood Asthma Research and Education network", "Childhood Asthma Research and Education program"; rdfs:label "Childhood Asthma Research and Education Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14187 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14187; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15157730+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In order to promote innovative research in asthma therapies, the National Heart, Lung and Blood Institute created the Childhood Asthma Research and Education Network in 1999." . _:32a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2742212/"; rdfs:comment "The CARE Network was next developed in 1999 and consisted of five clinical centers (University of California, San Diego; University of Arizona, Tucson; Washington University, St. Louis; University of Wisconsin, Madison; National Jewish Medical and Research Center, Denver) and one data coordinating center (Penn State University, Hershey)." . _:32aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22792082"; "Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene."; "PMID:22792082", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3390407/fullTextXML"; rdfs:comment "The primary group of subjects consisted of 1,644 non-Hispanic white asthmatics from the following drug clinical trials: Childhood Asthma Management Program (CAMP) [33], Leukotriene Modifier or Corticosteroid Salmeterol study (LOCCS) [34], Effectiveness of Low Dose Theophylline as an Add-on Treatment in Asthma trial (LODO) [35], a medication trial conducted by Sepracor, Inc. [36], [37], and subsets of clinical trials within the Childhood Asthma Research and Education (CARE) network [38], and the Asthma Clinical Research Network (ACRN) [39] participating in the NHLBI SNP Health Association Resource (SHARe) Asthma Resource project (SHARP)." . _:32ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A paediatric asthma clinical research network created in 1999 by the US National Heart, Lung, and Blood Institute, made up of five clinical centres (University of California, San Diego; University of Arizona, Tucson; Washington University, St. Louis; University of Wisconsin, Madison; National Jewish Medical and Research Center, Denver) and a data coordinating centre at Penn State University, Hershey, to evaluate new and existing asthma therapies in children through multicentre randomised clinical trials. Its trial cohorts include the Prevention of Early Asthma in Kids (PEAK) trial in preschool children at high risk of asthma and the CLIC and PACT trials in school-aged children with mild-to-moderate persistent asthma."; "PMID:15157730", "PMID:17141853"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE"; . _:32ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE Network"; . _:32ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARE_c"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14195, _:genid-371333f489424440b12a13b9d98ced822608-genid14197, _:genid-371333f489424440b12a13b9d98ced822608-genid14199; , ; ; "PMID:28604730"; "A multicentre, randomised, double-blind, placebo-controlled trial of daily beta-carotene (30 mg) plus retinyl palmitate (25,000 IU) for the primary prevention of lung cancer in people at high risk of it, namely male and female heavy smokers and former smokers and asbestos-exposed men, recruited at centres in Seattle, Portland, San Francisco, Irvine, Baltimore and New Haven, United States, in a pilot phase from 1985 and an efficacy phase from 1989. The intervention was stopped in January 1996, 21 months early, because it increased lung cancer incidence and mortality; participants were followed through 2005, and the serum, plasma, whole blood and lung tissue collected during the trial form the CARET Biorepository."; 18314; "Beta Carotene and Retinol Efficacy Trial", "Beta-Carotene and Retinol Efficacy Trial", "CARET", "β-Carotene and Retinol Efficacy Trial"; rdfs:label "Carotene and Retinol Efficacy Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14195 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14197 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14195; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8137335+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CARET is a multicenter, two-armed, double-masked randomized chemoprevention trial in Seattle, Portland, San Francisco, Baltimore, Connecticut, and Irvine, to test whether oral administration of beta-carotene (30 mg/day) plus retinyl palmitate (25,000 IU/day) can decrease the incidence of lung cancer in high risk populations, namely, heavy smokers and asbestos-exposed workers." . _:32b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14197; "heavy smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8137335+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CARET is a multicenter, two-armed, double-masked randomized chemoprevention trial in Seattle, Portland, San Francisco, Baltimore, Connecticut, and Irvine, to test whether oral administration of beta-carotene (30 mg/day) plus retinyl palmitate (25,000 IU/day) can decrease the incidence of lung cancer in high risk populations, namely, heavy smokers and asbestos-exposed workers." . _:32b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14199; "occupational asbestos exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8137335+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CARET is a multicenter, two-armed, double-masked randomized chemoprevention trial in Seattle, Portland, San Francisco, Baltimore, Connecticut, and Irvine, to test whether oral administration of beta-carotene (30 mg/day) plus retinyl palmitate (25,000 IU/day) can decrease the incidence of lung cancer in high risk populations, namely, heavy smokers and asbestos-exposed workers." . _:32b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1844268+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CARET is a multi-center collaboration, with participants recruited in Seattle, Portland, San Francisco, Irvine, Baltimore and New Haven." . _:32b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "For the OncoArray Project, CARET provided DNA extracted from whole blood of lung cancer cases and controls matched on age at baseline (+/- 4 years), sex, race, baseline smoking status, history of occupational asbestos exposure (asbestos vs heavy smoker), and year of enrollment (2-year intervals)." . _:32b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, double-blind, placebo-controlled trial of daily beta-carotene (30 mg) plus retinyl palmitate (25,000 IU) for the primary prevention of lung cancer in people at high risk of it, namely male and female heavy smokers and former smokers and asbestos-exposed men, recruited at centres in Seattle, Portland, San Francisco, Irvine, Baltimore and New Haven, United States, in a pilot phase from 1985 and an efficacy phase from 1989. The intervention was stopped in January 1996, 21 months early, because it increased lung cancer incidence and mortality; participants were followed through 2005, and the serum, plasma, whole blood and lung tissue collected during the trial form the CARET Biorepository."; "PMID:15572756", "PMID:1844268", "PMID:8137335", "PMID:8602180", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18314; "participants randomised (smokers, former smokers and asbestos-exposed workers)"; "PMID:15572756"; rdfs:comment "The Beta-Carotene and Retinol Efficacy Trial (CARET) tested the effect of daily beta-carotene (30 mg) and retinyl palmitate (25,000 IU) on the incidence of lung cancer, other cancers, and death in 18,314 participants who were at high risk for lung cancer because of a history of smoking or asbestos exposure." . _:32b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARET"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14206; , ; "PMID:42473435"; "A multiphase randomised trial of the effectiveness of antipsychotic drugs in adults aged 18–67 with chronic schizophrenia, run under the US National Institute of Mental Health's CATIE programme in 2001–2004 at 57 clinical sites across the United States (public mental health, academic, Veterans Affairs and managed care settings), whose double-blind first phase compared the first-generation drug perphenazine with the second-generation drugs olanzapine, quetiapine, risperidone and ziprasidone for up to 18 months, with all-cause treatment discontinuation as the primary outcome. Participants could join an optional genetic sub-study by donating DNA."; 1493; "CATIE", "CATIE schizophrenia trial", "CATIE-US", "Clinical Antipsychotic Trial of Intervention Effectiveness", "Clinical Antipsychotic Trial of Intervention Effectiveness study", "Clinical Antipsychotic Trials for Intervention Effectiveness study"; rdfs:label "Clinical Antipsychotic Trials of Intervention Effectiveness"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14206; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42473435+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We applied TRRIP criteria to 1334 participants with chronic schizophrenia enrolled in the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) study." . _:32b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2888895/fullTextXML"; rdfs:comment "To maximize representativeness, subjects were ascertained from clinical settings across the US (e.g., public mental health, academic, Veterans’ Affairs, and managed care centers)." . _:32b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42473435"; "The prospective incidence of treatment-resistant schizophrenia: analysis of the CATIE trial using the TRRIP consensus."; "PMID:42473435", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42473435+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We applied TRRIP criteria to 1334 participants with chronic schizophrenia enrolled in the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) study." . _:32ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multiphase randomised trial of the effectiveness of antipsychotic drugs in adults aged 18–67 with chronic schizophrenia, run under the US National Institute of Mental Health's CATIE programme in 2001–2004 at 57 clinical sites across the United States (public mental health, academic, Veterans Affairs and managed care settings), whose double-blind first phase compared the first-generation drug perphenazine with the second-generation drugs olanzapine, quetiapine, risperidone and ziprasidone for up to 18 months, with all-cause treatment discontinuation as the primary outcome. Participants could join an optional genetic sub-study by donating DNA."; "PMID:12908658", "PMID:16172203", "PMID:18347602", "PMID:19721433"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1493; "patients with schizophrenia randomised in phase 1"; "PMID:16172203"; rdfs:comment "A total of 1493 patients with schizophrenia were recruited at 57 U.S. sites and randomly assigned to receive olanzapine (7.5 to 30 mg per day), perphenazine (8 to 32 mg per day), quetiapine (200 to 800 mg per day), or risperidone (1.5 to 6.0 mg per day) for up to 18 months." . _:32bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CATIE"; . _:32bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CATIE-US"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14214; , ; ; "PMID:30482948"; "A retrospective case–control study of genetic and environmental contributions to heroin dependence, funded by the US National Institute on Drug Abuse in 2003 and run by Washington University, the Queensland Institute of Medical Research and the National Drug and Alcohol Research Centre (University of New South Wales), which from 2004 recruited opioid-dependent adults from opioid substitution (maintenance) treatment clinics in the greater Sydney area, Australia, and neighbourhood controls with little or no lifetime opioid use from socially disadvantaged areas served by the same clinics. Participants gave blood for DNA and completed a psychiatric diagnostic interview (SSAGA-OZ) with added assessments of childhood trauma, family history and borderline personality disorder."; 1459; 531; "CATS"; rdfs:label "Comorbidity and Trauma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14214 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14214; "heroin dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23245376+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The sample of the Comorbidity and Trauma Study, a genetic association study of heroin dependence, consists of Australian heroin dependent cases ascertained from opioid replacement therapy clinics and controls ascertained in nearby economically disadvantaged neighborhoods." . _:32bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23245376+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The sample of the Comorbidity and Trauma Study, a genetic association study of heroin dependence, consists of Australian heroin dependent cases ascertained from opioid replacement therapy clinics and controls ascertained in nearby economically disadvantaged neighborhoods." . _:32c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30482948"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6430207/fullTextXML"; rdfs:comment "Funding support for the Comorbidity and Trauma Study (CATS) (dbGAP accession number: phs000277.v1.p1) was provided by the National Institute on Drug Abuse (R01 DA17305); GWAS genotyping services at the CIDR at The Johns Hopkins University were supported by the National Institutes of Health (contract N01-HG-65403)." . _:32c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retrospective case–control study of genetic and environmental contributions to heroin dependence, funded by the US National Institute on Drug Abuse in 2003 and run by Washington University, the Queensland Institute of Medical Research and the National Drug and Alcohol Research Centre (University of New South Wales), which from 2004 recruited opioid-dependent adults from opioid substitution (maintenance) treatment clinics in the greater Sydney area, Australia, and neighbourhood controls with little or no lifetime opioid use from socially disadvantaged areas served by the same clinics. Participants gave blood for DNA and completed a psychiatric diagnostic interview (SSAGA-OZ) with added assessments of childhood trauma, family history and borderline personality disorder."; "PMID:23245376", "PMID:26239289", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1459; "heroin-dependent cases and neighbourhood controls in the candidate-gene study"; "PMID:23303482"; rdfs:comment "A total of 1459 Australian cases ascertained from opioid replacement therapy clinics, 531 neighborhood controls ascertained from economically disadvantaged areas near opioid replacement therapy clinics, and 1495 unrelated Australian Twin Registry controls not dependent on alcohol or illicit drugs selected from a twin and family sample." . _:32c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 531; "heroin-dependent cases and neighbourhood controls in the candidate-gene study"; "PMID:23303482"; rdfs:comment "A total of 1459 Australian cases ascertained from opioid replacement therapy clinics, 531 neighborhood controls ascertained from economically disadvantaged areas near opioid replacement therapy clinics, and 1495 unrelated Australian Twin Registry controls not dependent on alcohol or illicit drugs selected from a twin and family sample." . _:32c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CATS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14222; , ; "PMID:30103784"; "A case–control study of colorectal cancer in Croatia, whose cases are patients with colorectal cancer recruited from November 2008 at the surgery departments of two tertiary hospitals in Zagreb that receive patients from across the country, and whose population controls without a history of cancer were drawn at random, by age and sex, from the '10,001 Dalmatians' study of the general population of Split and the islands of Vis and Korčula. Its participants were genotyped for known colorectal cancer risk variants and later genome-wide, for European colorectal cancer genome-wide association studies."; 764; 460; "CCCGS", "Croatia CRC case-control study", "Croatia case-control CRC study"; rdfs:label "Croatian Colorectal Cancer Genetic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14222 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14222; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6090711/fullTextXML"; rdfs:comment "Finally, a case–control CRC study from Croatia consisting of 764 cases and 460 population-based controls was also included in the analysis." . _:32c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3774761/fullTextXML"; rdfs:comment "In the period from November 2008 to July 2009, a total of 338 colorectal cancer cases were recruited at departments of surgery in two hospitals in Zagreb, Croatia." . _:32c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30103784"; "Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study."; "PMID:30103784", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6090711/fullTextXML"; rdfs:comment "Finally, a case–control CRC study from Croatia consisting of 764 cases and 460 population-based controls was also included in the analysis." . _:32c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of colorectal cancer in Croatia, whose cases are patients with colorectal cancer recruited from November 2008 at the surgery departments of two tertiary hospitals in Zagreb that receive patients from across the country, and whose population controls without a history of cancer were drawn at random, by age and sex, from the '10,001 Dalmatians' study of the general population of Split and the islands of Vis and Korčula. Its participants were genotyped for known colorectal cancer risk variants and later genome-wide, for European colorectal cancer genome-wide association studies."; "PMID:24066093", "PMID:31089142"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 764; "colorectal cancer cases and population controls genotyped genome-wide (analysed set), 2018"; "PMID:30103784"; rdfs:comment "Finally, a case–control CRC study from Croatia consisting of 764 cases and 460 population-based controls was also included in the analysis." . _:32ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 460; "colorectal cancer cases and population controls genotyped genome-wide (analysed set), 2018"; "PMID:30103784"; rdfs:comment "Finally, a case–control CRC study from Croatia consisting of 764 cases and 460 population-based controls was also included in the analysis." . _:32cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCCGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14230; , ; "PMID:22039354"; "A population-based case–control study of type 2 diabetes in Cambridgeshire, United Kingdom, whose cases are Europid men and women with type 2 diabetes (onset after age 30 without insulin treatment in the first year after diagnosis) randomly selected from general practice diabetes registers in a geographically defined region of Cambridgeshire, and whose controls were recruited at random from the same population sampling frames and individually matched to cases for age, sex and general practice, with diabetes excluded by medical record search and an HbA1c below 6%. It was funded by the Medical Research Council with support from NHS Research and Development and the Wellcome Trust."; 517; 517; "CCCS", "Cambridgeshire Case-Control Population", "Cambridgeshire case-control study"; rdfs:label "Cambridgeshire Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14230 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14230; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3201934/fullTextXML"; rdfs:comment "The Cambridgeshire case-control study is a population-based study of T2D cases, aged 45–76 y, and age- and sex-matched controls." . _:32cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC212698/fullTextXML"; rdfs:comment "The cases were a random sample of Europid men and women with Type 2 diabetes, aged 47–75 years, from a population-based diabetes register in a geographically defined region in Cambridgeshire, United Kingdom." . _:32ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22039354"; "Mendelian randomization study of B-type natriuretic peptide and type 2 diabetes: evidence of causal association from population studies."; "PMID:22039354", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3201934/fullTextXML"; rdfs:comment "The Cambridgeshire case-control study is a population-based study of T2D cases, aged 45–76 y, and age- and sex-matched controls." . _:32cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of type 2 diabetes in Cambridgeshire, United Kingdom, whose cases are Europid men and women with type 2 diabetes (onset after age 30 without insulin treatment in the first year after diagnosis) randomly selected from general practice diabetes registers in a geographically defined region of Cambridgeshire, and whose controls were recruited at random from the same population sampling frames and individually matched to cases for age, sex and general practice, with diabetes excluded by medical record search and an HbA1c below 6%. It was funded by the Medical Research Council with support from NHS Research and Development and the Wellcome Trust."; "PMID:12045211", "PMID:14551916", "PMID:22039354"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 517; "type 2 diabetes cases and matched controls in the collection"; "PMID:14551916"; rdfs:comment "The Cambridgeshire Case-Control Population (Poulton et al. 2002; Halsall et al. 2003) consists of a collection of 517 Type 2 diabetics and 517 matched controls." . _:32d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 517; "type 2 diabetes cases and matched controls in the collection"; "PMID:14551916"; rdfs:comment "The Cambridgeshire Case-Control Population (Poulton et al. 2002; Halsall et al. 2003) consists of a collection of 517 Type 2 diabetics and 517 matched controls." . _:32d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14238; , ; ; "PMID:39603580"; "A single-centre prospective cohort and sample repository of consecutive adults undergoing elective diagnostic coronary angiography or elective cardiac computed tomographic angiography at the Cleveland Clinic, Cleveland, Ohio, United States, enrolled from 2001 to 2007 with blood samples, extensive clinical and laboratory characterisation and adjudicated follow-up for death, myocardial infarction and stroke, set up to study the genetic and molecular determinants of coronary artery disease."; "The acronym CCGB also denotes Cleveland Clinic FMD Biorepository (COHO:0001577); this term is Cleveland Clinic GeneBank Study."@en, "The acronym GATC also denotes Canadian Pharmacogenomics Network for Drug Safety (COHO:0001631); this term is Cleveland Clinic GeneBank Study."@en; 9880; "CCGB", "CCGB_2", "Cleveland Clinic Gene Bank", "Cleveland Clinic GeneBank", "Cleveland Clinic GeneBank study", "Cleveland Clinic Genebank", "GATC", "GeneBank", "GeneBank Study", "GeneBank at the Cleveland Clinic: Molecular Determinants of Coronary Artery Disease"; rdfs:label "Cleveland Clinic GeneBank Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14238 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14238; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5015312/fullTextXML"; rdfs:comment "The Cleveland Clinic GeneBank study is a single‐site sample repository generated from consecutive patients undergoing elective diagnostic coronary angiography or elective cardiac computed tomographic angiography with extensive clinical and laboratory characterization and longitudinal observation." . _:32d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5015312/fullTextXML"; rdfs:comment "GeneBank participants who reported their residential ZIP codes as being located in Ohio were clustered in metropolitan regions, particularly in the area surrounding Cleveland." . _:32d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39603580"; "Abbreviated Duke Activity Status Index for Risk Stratification in Heart Failure."; "PMID:39603580", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39603580+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Leveraging the Cleveland Clinic GeneBank Study, we developed an abbreviated DASI questionnaire (aDASI) with the machine learning XGBoost algorithm, with the goal of maintaining the accuracy and reliability of the original DASI." . _:32d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre prospective cohort and sample repository of consecutive adults undergoing elective diagnostic coronary angiography or elective cardiac computed tomographic angiography at the Cleveland Clinic, Cleveland, Ohio, United States, enrolled from 2001 to 2007 with blood samples, extensive clinical and laboratory characterisation and adjudicated follow-up for death, myocardial infarction and stroke, set up to study the genetic and molecular determinants of coronary artery disease."; "PMID:26822151", "PMID:27468926", "PMID:34419046", "https://clinicaltrials.gov/api/v2/studies/NCT00590200"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9880; "GeneBank participants included in the example analysis"; "PMID:39603580"; rdfs:comment "The present analysis included a total of 9,880 GeneBank participants in the score derivation using the XGBoost algorithm, 8,987 of which had DASI score calculated." . _:32d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCGB"; . _:32d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCGB_2"; . _:32da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GATC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14247; , ; "PMID:32887874"; "A biorepository of DNA and clinical data from adults with fibromuscular dysplasia enrolled at the Cleveland Clinic, Cleveland, Ohio, United States, from consecutive patients seen at its dedicated fibromuscular dysplasia referral clinic, each giving a blood or saliva sample, used in genetic studies of fibromuscular dysplasia and of arterial dissection, including spontaneous coronary artery dissection."; "The acronym CCGB also denotes Cleveland Clinic GeneBank Study (COHO:0001576); this term is Cleveland Clinic FMD Biorepository."@en; 412; "CCGB"; rdfs:label "Cleveland Clinic FMD Biorepository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14247 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14247; "fibromuscular dysplasia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7474092/fullTextXML"; rdfs:comment "Between 2010 and 2015, adult subjects with mFMD (Nunrelated = 412) were enrolled with IRB approval in the Cleveland Clinic FMD Biorepository." . _:32dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7474092/fullTextXML"; rdfs:comment "The Cleveland Clinic FMD Biorepository was supported in part by the National Institutes of Health, National Center for Research Resources, CTSA 1UL1RR024989, Cleveland, Ohio." . _:32dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32887874"; "Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction."; "PMID:32887874", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7474092/fullTextXML"; rdfs:comment "Between 2010 and 2015, adult subjects with mFMD (Nunrelated = 412) were enrolled with IRB approval in the Cleveland Clinic FMD Biorepository." . _:32de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository of DNA and clinical data from adults with fibromuscular dysplasia enrolled at the Cleveland Clinic, Cleveland, Ohio, United States, from consecutive patients seen at its dedicated fibromuscular dysplasia referral clinic, each giving a blood or saliva sample, used in genetic studies of fibromuscular dysplasia and of arterial dissection, including spontaneous coronary artery dissection."; "PMID:32887874", "PMID:34654805"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 412; "unrelated adults with multifocal FMD enrolled 2010-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7474092/fullTextXML"; rdfs:comment "The processed DNA samples were batched and transferred to the University of Michigan for GWAS analysis.Between 2010 and 2015, adult subjects with mFMD (Nunrelated = 412) were enrolled with IRB approval in the Cleveland Clinic FMD Biorepository." . _:32e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCGB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14254; , ; ; "PMID:30554720"; "A hospital-based case-control study of breast cancer in Crete, Greece, run under the Crete Cancer Genetics Program with the approval of the Scientific Council of the University General Hospital of Heraklion and funded by the University of Crete, whose breast cancer cases and controls were genotyped on the OncoArray within the Breast Cancer Association Consortium."; 728; 366; "CCGP"; rdfs:label "Crete Cancer Genetics Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14254 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14254; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6323553/supplementaryFiles"; rdfs:comment "Table S2. Studies and samples in the validation set Study Controls Invasive cases ER-positive ER-negative Total ABCTB 74 188 110 78 262 BBCC 49 68 62 6 117 BCEES 166 133 107 26 299 BCINIS 144 262 213 49 406 BREOGAN 145 242 188 54 387 CBCS 163 110 90 20 273 CCGP 66 132 97 35 198" . _:32e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "CCGP Crete Cancer Genetics Program Greece" . _:32e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30554720"; "Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes."; "PMID:30554720", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6323553/supplementaryFiles"; rdfs:comment "Table S2. Studies and samples in the validation set Study Controls Invasive cases ER-positive ER-negative Total ABCTB 74 188 110 78 262 BBCC 49 68 62 6 117 BCEES 166 133 107 26 299 BCINIS 144 262 213 49 406 BREOGAN 145 242 188 54 387 CBCS 163 110 90 20 273 CCGP 66 132 97 35 198" . _:32e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in Crete, Greece, run under the Crete Cancer Genetics Program with the approval of the Scientific Council of the University General Hospital of Heraklion and funded by the University of Crete, whose breast cancer cases and controls were genotyped on the OncoArray within the Breast Cancer Association Consortium."; "PMID:29058716", "PMID:32424353", "PMID:32737321", "PMID:37173335"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 728; "samples received for OncoArray genotyping (cases and controls), 2017"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "CCGP Crete Cancer Genetics Program Hospital-based case-control study Greece 366 728 332 681 0 0" . _:32e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 366; "samples received for OncoArray genotyping (cases and controls), 2017"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "CCGP Crete Cancer Genetics Program Hospital-based case-control study Greece 366 728 332 681 0 0" . _:32e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14262; , , ; "PMID:22751097"; "A population-based study of cardiovascular disease and its risk factors in Chinese adults, carried out by the Department of Epidemiology of Fuwai Hospital (National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College), Beijing, with field centres in several provinces, including Jiangsu, Shandong and Henan, and funded by the Ministry of Science and Technology of China."; "The acronym CCHS also denotes Copenhagen City Heart Study (COHO:0001296); this term is China Cardiovascular Health Study."@en; "CCHS", "CCHS_b", "China Cardiovascular Health Study project"; rdfs:label "China Cardiovascular Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14262; "cardiovascular disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "CCHS has been a population-based investigation of risk factors for cardiovascular diseases in China since 2006." . _:32e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22751097"; "Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease."; "PMID:22751097", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3927410/unicode"; rdfs:comment "For replication 3, cases from the northern China were enrolled from Fuwai Hospital, Beijing and other medical centers, and controls were selected from northern field centers of China Cardiovascular Health Study (CCHS) project. CCHS has been a population-based investigation of risk factors for cardiovascular diseases in China since 2006." . _:32ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of cardiovascular disease and its risk factors in Chinese adults, carried out by the Department of Epidemiology of Fuwai Hospital (National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College), Beijing, with field centres in several provinces, including Jiangsu, Shandong and Henan, and funded by the Ministry of Science and Technology of China."; "PMID:22751097", "PMID:25249183", "PMID:26250998"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCHS"; . _:32ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCHS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14268; , ; ; "PMID:29892016"; "A hospital-based case series of men with prostate cancer treated with iodine-125 (125I) brachytherapy implants as monotherapy at the Cross Cancer Institute, Edmonton, Alberta, Canada, and identified through its clinics, who gave saliva samples for DNA and whose clinical, dosimetric and toxicity data were compiled retrospectively, assembled to study genetic and other predictors of late toxicity after prostate brachytherapy."; 296; "CCI", "CCI Prostate", "CCI-BT", "Cross Cancer Institute–Brachytherapy"; rdfs:label "Cross Cancer Institute Prostate Brachytherapy Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14268 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14268; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24656733+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genomic DNA from 296 men treated with (125)I prostate brachytherapy monotherapy was extracted from saliva samples for this study." . _:32ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "82.6] BioVU (n=204) Vanderbilt University Biorepository Nashville, USA Hospital- based, case- control 0 204 0 0 0 0 204 0 0.4768 [0.2658, 0.6174] 61.0 [55.4, 66.5] 61.0 [55.4, 66.5] Canary PASS (n=373) Prostate Active Surveillance Study USA Prospective, observational 0 373 0 0 364 9 0 0 0.5186 [0.3357, 0.7402] 63.0 [58.0, 67.0] 63.0 [58.0, 67.0] CCI (n=270) CCI Prostate Alberta, Canada Hospital- based, case series 0 270 71 1 266 4 0 0 0.5666 [0.381, 0.7521] 64.3 [59.1, 68.7] 69.8 [64.7, 75.5] CeRePP (n=1755) French Prostate Case Control Study Paris, France Case-control, prospective, hospital-based 730 1025 805 13 1567 3 185 1748 0.4935 [0.2943, 0.6984] 66.0 [60.0, 71.0] 68.0 [61.0, 73.0]" . _:32ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892016"; "Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci."; "PMID:29892016", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Lin European 380 0 371 0 clinic based from Beth Israel Deaconness Medical Center, Eastern Virginia Medical School, University of California at San Francisco, University of Texas Health Sciences Center San Antonio, University of Washington, VA Puget Sound N/A PMID: 19758683 CCI CCI Prostate Alberta Canada Case series, Hospital-based Matthew Parliament, Nawaid Usmani 285 0 270 0 Cases identified through clinics at the Cross Cancer Institute N/A PMID: 24656733 CeRePP (ProGene) French Prostate Case Control Study Paris France Case-Control, Prospective, Observational, Hospital-based Olivier Cussenot, Géraldine Cancel- Tassin European 1064 881 923 694 Patients, treated in French departments of" . _:32f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case series of men with prostate cancer treated with iodine-125 (125I) brachytherapy implants as monotherapy at the Cross Cancer Institute, Edmonton, Alberta, Canada, and identified through its clinics, who gave saliva samples for DNA and whose clinical, dosimetric and toxicity data were compiled retrospectively, assembled to study genetic and other predictors of late toxicity after prostate brachytherapy."; "PMID:24656733", "PMID:31095341", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 296; "men treated with 125I brachytherapy monotherapy who gave saliva DNA"; "PMID:24656733"; rdfs:comment "Genomic DNA from 296 men treated with (125)I prostate brachytherapy monotherapy was extracted from saliva samples for this study." . _:32f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCI"; . _:32f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCI-BT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14276; , ; ; "PMID:27409342"; "A population-based case-control study of endometrial cancer conducted in Connecticut, United States, from December 2004 to March 2009 by investigators at the Yale School of Public Health and Yale Cancer Center, which enrolled women aged 35–80 newly diagnosed with primary endometrial cancer from October 2004 through September 2008, identified at 28 Connecticut hospitals by the Yale Cancer Center Rapid Case Ascertainment Shared Resource, and controls frequency-matched on age and found by random-digit dialling, who were interviewed at home and gave biological specimens, to study risk factors for endometrial cancer."; 668; 674; "CECS", "CONN"; rdfs:label "Connecticut Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14276 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14276; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5342415/fullTextXML"; rdfs:comment "We obtained data from Connecticut Endometrial Cancer Study (CECS) [68], a population-based case-control study on 668 incident cases with type I endometrial cancer and 674 population controls." . _:32f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4659592/fullTextXML"; rdfs:comment "The cooperation of 28 Connecticut hospitals in the Connecticut Endometrial Cancer Study" . _:32f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27409342"; "Meta-dimensional data integration identifies critical pathways for susceptibility, tumorigenesis and progression of endometrial cancer."; "PMID:27409342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5342415/fullTextXML"; rdfs:comment "We obtained data from Connecticut Endometrial Cancer Study (CECS) [68], a population-based case-control study on 668 incident cases with type I endometrial cancer and 674 population controls." . _:32f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of endometrial cancer conducted in Connecticut, United States, from December 2004 to March 2009 by investigators at the Yale School of Public Health and Yale Cancer Center, which enrolled women aged 35–80 newly diagnosed with primary endometrial cancer from October 2004 through September 2008, identified at 28 Connecticut hospitals by the Yale Cancer Center Rapid Case Ascertainment Shared Resource, and controls frequency-matched on age and found by random-digit dialling, who were interviewed at home and gave biological specimens, to study risk factors for endometrial cancer."; "PMID:21387312", "PMID:22915050", "PMID:26606540"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:32f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 668; "incident endometrial cancer cases and population controls enrolled (2004-2009)"; "PMID:21387312"; rdfs:comment "The study enrolled 668 incident cases and 674 population controls." . _:32f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 674; "incident endometrial cancer cases and population controls enrolled (2004-2009)"; "PMID:21387312"; rdfs:comment "The study enrolled 668 incident cases and 674 population controls." . _:32fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CECS"; . _:32fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14285; , ; ; "PMID:23041239"; "A registry of stroke patients at the Carlo Besta Neurological Institute (Fondazione IRCCS Istituto Neurologico Carlo Besta), Milan, Italy, including consecutive Italian patients with stroke referred to the institute from 2000 to 2009, funded by the Italian Ministry of Health; its imaging-confirmed ischaemic stroke cases, subtyped by stroke neurologists with the TOAST criteria, were genotyped and studied with Italian PROCARDIS participants as controls in genome-wide association studies of stroke."; 372; "Besta Stroke Register", "CEDIR", "Cerebrovascular Diseases Registry", "MILANO", "Milano Besta Institute Stroke Study"; rdfs:label "Besta Cerebrovascular Diseases Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14285 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:32fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14285; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3490334/supplementaryFiles"; rdfs:comment "This study Includes consecutive Italian patients referred to Besta Institute from 2000 to 2009 with stroke and included in the Besta Cerebrovascular Diseases Registry (CEDIR)." . _:32fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3582024/fullTextXML"; rdfs:comment "MetaStroke is a project of the International Stroke Genetics Consortium and comprises ischemic stroke cases whose DNA has been collected and undergone GWA scan, recruited from centers in Europe (BRAINS [Bio-Repository of DNA in Stroke], United Kingdom; DeCODE, Iceland; Cerebrovascular Diseases Registry (CEDIR), Milan, Italy; Rotterdam, the Netherlands), USA (Atherosclerosis Risk in Communities study; Cardiovascular Health Study; Framingham Heart Study; Genetics of Early Onset Stroke Study; Heart Protection Study; Heart and Vascular Health; Ischemic Stroke Genetics Study; Massachusetts General Hospital Genes Affecting Stroke Risk and Outcome study), and Australia (Australian Stroke Genetics Collaborative)." . _:32fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23041239"; "Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies."; "PMID:23041239", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3490334/supplementaryFiles"; rdfs:comment "This study Includes consecutive Italian patients referred to Besta Institute from 2000 to 2009 with stroke and included in the Besta Cerebrovascular Diseases Registry (CEDIR)." . _:32ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of stroke patients at the Carlo Besta Neurological Institute (Fondazione IRCCS Istituto Neurologico Carlo Besta), Milan, Italy, including consecutive Italian patients with stroke referred to the institute from 2000 to 2009, funded by the Italian Ministry of Health; its imaging-confirmed ischaemic stroke cases, subtyped by stroke neurologists with the TOAST criteria, were genotyped and studied with Italian PROCARDIS participants as controls in genome-wide association studies of stroke."; "PMID:23041239", "PMID:23381943"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 372; "ischaemic stroke cases genotyped for METASTROKE (analysed subset), 2012"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3490334/"; rdfs:comment "Milano 372 25 74 65 407 European Cross-sectional Illumina 610/660" . _:33012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEDIR"; . _:33022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MILANO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14293; , , , , ; "PMID:22113997"; "A hospital-based multicentre case–control study of renal cell carcinoma conducted by the International Agency for Research on Cancer and the US National Cancer Institute at seven centres in Moscow (Russia), Bucharest (Romania), Lodz (Poland) and Prague, Olomouc, Ceske Budejovice and Brno (Czech Republic), which recruited newly diagnosed, histologically confirmed cases aged 20–79 between August 1999 and January 2003 and controls admitted to the same hospitals for conditions unrelated to smoking or genitourinary disease, some of them recruited in parallel for IARC's lung and head and neck cancer case–control studies. Participants were interviewed with standardised questionnaires on lifestyle, diet and medical, residential and occupational history and gave blood for DNA, to study the causes of the region's high kidney cancer rates."; 1097; 1476; "CEERCC", "CEERCC case-control study", "Central and Eastern European Kidney Cancer Study", "Central and Eastern European RCC case-control study", "Central and Eastern European Renal Cancer Study", "Central and Eastern European Renal Cell Cancer Study"; rdfs:label "Central and Eastern European Renal Cell Carcinoma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14293 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14293; "renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2737618/fullTextXML"; rdfs:comment "Briefly, the CEERCC study is a hospital-based case-control study of renal cell cancer conducted between 1999 and 2003 in seven centers in four Central and Eastern European countries (Moscow, Russia; Bucharest, Romania; Lodz, Poland; and Prague, Olomouc, Ceske-Budejovice, and Brno, Czech Republic)." . _:33042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2600689/fullTextXML"; rdfs:comment "This hospital-based case–control study was conducted in seven centres (Moscow (Russia), Bucharest (Romania), Lodz (Poland), and Prague, Olomouc, Ceske Budejovice, and Brno (Czech Republic))." . _:33052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22113997"; "The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma."; "PMID:22113997", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3277315/"; rdfs:comment "We genotyped 59 tagged SNPs in 2278 RCC cases and 3719 controls from two nested case–control studies [the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial and the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) study in Finland], a hospital-based Central and Eastern European RCC (CEERCC) case–control study and Caucasians from the United States Kidney Cancer (USKC) population-based case–control study (see Materials and Methods and Fig. 1)." . _:33062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based multicentre case–control study of renal cell carcinoma conducted by the International Agency for Research on Cancer and the US National Cancer Institute at seven centres in Moscow (Russia), Bucharest (Romania), Lodz (Poland) and Prague, Olomouc, Ceske Budejovice and Brno (Czech Republic), which recruited newly diagnosed, histologically confirmed cases aged 20–79 between August 1999 and January 2003 and controls admitted to the same hospitals for conditions unrelated to smoking or genitourinary disease, some of them recruited in parallel for IARC's lung and head and neck cancer case–control studies. Participants were interviewed with standardised questionnaires on lifestyle, diet and medical, residential and occupational history and gave blood for DNA, to study the causes of the region's high kidney cancer rates."; "PMID:19034282", "PMID:19753122", "PMID:21540858", "PMID:22113997"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1097; "incident renal cell carcinoma cases and hospital controls (1999-2003)"; "PMID:19034282"; rdfs:comment "In a case-control study of kidney cancer in four central European countries, with 1097 incident cases and 1476 controls, we found an increased risk for self-reported hypertension and for obesity." . _:33082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1476; "incident renal cell carcinoma cases and hospital controls (1999-2003)"; "PMID:19034282"; rdfs:comment "In a case-control study of kidney cancer in four central European countries, with 1097 incident cases and 1476 controls, we found an increased risk for self-reported hypertension and for obesity." . _:33092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEERCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14301, _:genid-371333f489424440b12a13b9d98ced822608-genid14303; , , , , ; "PMID:31792337"; "An international population-based case–control study of primary intracranial brain tumours in children and adolescents aged 7–19 in Denmark, Norway, Sweden and Switzerland, whose cases were diagnosed between 2004 and 2008 and identified through hospitals and national cancer registries, and whose controls were drawn at random from population registries and matched by age, sex and region. The children and their parents were interviewed in person, mainly to find out whether mobile phone use and other exposures raise the risk of brain tumours; saliva DNA from part of the participants was genotyped in candidate-gene studies."; 352; 646; "CEFALO study", "Cefalo"; rdfs:label "CEFALO"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14301 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14303 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:330a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14301; "brain tumour"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23652309+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CEFALO is an interview-based case-control study in Denmark, Norway, Sweden and Switzerland, including children and adolescents aged 7-19 years with primary intracranial brain tumours diagnosed between 2004 and 2008 and matched population controls." . _:330b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14303; "mobile phone use"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3681020/"; rdfs:comment "The CEFALO study is a multinational case–control study conducted in Denmark, Norway, Sweden and Switzerland, with the primary aim to investigate the possible association between CABT risk and mobile phone use and other relevant exposures (Aydin et al, 2011)." . _:330c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6889151/fullTextXML"; rdfs:comment "CEFALO is a population-based case-control study of brain tumors in children and adolescents aged 7–19 years conducted in Sweden, Denmark, Norway, and Switzerland." . _:330d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31792337"; "A Weighted Genetic Risk Score of Adult Glioma Susceptibility Loci Associated with Pediatric Brain Tumor Risk."; "PMID:31792337", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31792337+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GRS was calculated in CEFALO, a population-based case-control study of brain tumors in children and adolescents including saliva DNA of 245 cases and 489 controls." . _:330e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international population-based case–control study of primary intracranial brain tumours in children and adolescents aged 7–19 in Denmark, Norway, Sweden and Switzerland, whose cases were diagnosed between 2004 and 2008 and identified through hospitals and national cancer registries, and whose controls were drawn at random from population registries and matched by age, sex and region. The children and their parents were interviewed in person, mainly to find out whether mobile phone use and other exposures raise the risk of brain tumours; saliva DNA from part of the participants was genotyped in candidate-gene studies."; "PMID:21795665", "PMID:23652309", "PMID:26014354", "PMID:31792337"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:330f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 352; "cases and controls interviewed (2004-2008)"; "PMID:21795665"; rdfs:comment "We conducted interviews, in person, with 352 case patients (participation rate: 83%) and 646 control subjects (participation rate: 71%) and their parents." . _:33102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 646; "cases and controls interviewed (2004-2008)"; "PMID:21795665"; rdfs:comment "We conducted interviews, in person, with 352 case patients (participation rate: 83%) and 646 control subjects (participation rate: 71%) and their parents." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14310; "PMID:32820175"; "A research cohort of people whose healthcare provider ordered clinical-grade multi-gene panel testing for inherited disease risk, such as hereditary breast and ovarian cancer, from Color Genomics, a commercial genetic testing laboratory in Burlingame, California, and who gave electronic informed consent, under a Western Institutional Review Board protocol, for their de-identified samples, sequence data and health histories, self-reported through an online tool, to be used in research."; 11502; "CG", "Color Genomics participants", "Color genomics study"; rdfs:label "Color Genomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14310 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14310; "hereditary breast and ovarian cancer syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7441381/fullTextXML"; rdfs:comment "Second, a breast cancer case-control study consisted of 19,264 women (1920 cases and 17,344 controls) who underwent clinical grade genetic testing for hereditary breast and ovarian cancer syndrome at a commercial testing laboratory (Color Genomics; Burlingame, CA)." . _:33122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32820175"; "Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions."; "PMID:32820175", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7441381/fullTextXML"; rdfs:comment "Second, a breast cancer case-control study consisted of 19,264 women (1920 cases and 17,344 controls) who underwent clinical grade genetic testing for hereditary breast and ovarian cancer syndrome at a commercial testing laboratory (Color Genomics; Burlingame, CA)." . _:33132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research cohort of people whose healthcare provider ordered clinical-grade multi-gene panel testing for inherited disease risk, such as hereditary breast and ovarian cancer, from Color Genomics, a commercial genetic testing laboratory in Burlingame, California, and who gave electronic informed consent, under a Western Institutional Review Board protocol, for their de-identified samples, sequence data and health histories, self-reported through an online tool, to be used in research."; "PMID:31771638", "PMID:32820175"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11502; "clinical cohort sequenced by low-coverage WGS (analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6880438/fullTextXML"; rdfs:comment "The clinical cohort included DNA samples from 11,502 individuals whose healthcare provider had ordered a Color multi-gene panel test (Fig. 1b)." . _:33152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CG"; . a owl:NamedIndividual, ; , ; , ; "PMID:20400780"; "A shared genotype–phenotype resource set up by the US National Heart, Lung, and Blood Institute in 2006, which brought DNA samples and phenotype data from nine NHLBI cohort studies (ARIC, CARDIA, the Cleveland Family Study, the Cardiovascular Health Study, the Cooperative Study of Sickle Cell Disease, the Framingham Heart Study, the Jackson Heart Study, MESA and the Sleep Heart Health Study) to the Broad Institute, genotyped their European American, African American, Hispanic and Chinese American participants on a candidate-gene array (the ITMAT-Broad-CARe array) and the African American participants of five of the cohorts genome-wide, and makes the data available to approved researchers, to find genetic variants associated with cardiovascular, pulmonary, haematological and sleep-related traits."; "The acronym CARe also denotes Los Angeles component of The Womens Contraceptive and Reproductive Experiences Study (COHO:0000110), Canadian Airways Research Group (COHO:0000229), Cholesterol and Recurrent Events (COHO:0001569) and Childhood Asthma Research and Education Network (COHO:0001570); this term is Candidate Gene Association Resource."@en; 41000; "CARe", "CARe Consortium", "CGARe", "Candidate Gene Association Resource Consortium", "Candidate gene Association Resource", "Candidate-gene Association Resource", "NHLBI CARe Project", "NHLBI Candidate Gene Association Resource", "NHLBI_CARe", "National Heart, Lung, and Blood Institute Candidate Gene Association Resource"; rdfs:label "Candidate Gene Association Resource"@en . _:33162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000283.v6.p3"; rdfs:comment "In addition, a genome wide association study using a 1,000K SNP Chip was conducted on approximately 8,900 African American participants drawn from five CARe cohorts: ARIC, CARDIA, CFS, JHS, and MESA." . _:33172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3048024/"; rdfs:comment "DNA samples and phenotypic information from the nine NHLBI cohorts—ARIC, CARDIA, CFS, CHS, CSSCD, FHS, JHS, MESA, and SHHS—were sent to the Broad Institute of MIT and Harvard and deposited in the CARe Phenotype Database." . _:33182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000283.v6.p3"; rdfs:comment "Participants were recruited from six field centers across the United States: Wake Forest University, Columbia University, Johns Hopkins University, University of Minnesota, Northwestern University and University of California - Los Angeles." . _:33192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20400780"; "Candidate gene association resource (CARe): design, methods, and proof of concept."; "PMID:20400780", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20400780+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe), a planned cross-cohort analysis of genetic variation in cardiovascular, pulmonary, hematologic, and sleep-related traits, comprises >40,000 participants representing 4 ethnic groups in 9 community-based cohorts." . _:331a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A shared genotype–phenotype resource set up by the US National Heart, Lung, and Blood Institute in 2006, which brought DNA samples and phenotype data from nine NHLBI cohort studies (ARIC, CARDIA, the Cleveland Family Study, the Cardiovascular Health Study, the Cooperative Study of Sickle Cell Disease, the Framingham Heart Study, the Jackson Heart Study, MESA and the Sleep Heart Health Study) to the Broad Institute, genotyped their European American, African American, Hispanic and Chinese American participants on a candidate-gene array (the ITMAT-Broad-CARe array) and the African American participants of five of the cohorts genome-wide, and makes the data available to approved researchers, to find genetic variants associated with cardiovascular, pulmonary, haematological and sleep-related traits."; "PMID:20400780", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000283.v6.p3"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:331b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 41000; "participants of the nine cohorts in the CARe genotype-phenotype database (approximate)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000283.v6.p3"; rdfs:comment "A database of genotype and phenotype data was created that includes records for approximately 41,000 study participants with approximately 50,000 SNPs from more than 2,000 selected candidate genes." . _:331c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARe"; . _:331d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGARe"; . _:331e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHLBI_CARe"; . a owl:NamedIndividual, ; , ; "PMID:28530674"; "A prospective general-population cohort run from Herlev and Gentofte Hospital, Copenhagen University Hospital, and modelled on the Copenhagen City Heart Study, which from 2003 to 2015 invited adults aged 20–100 living in the greater Copenhagen area, identified through the Danish Civil Registration System (all those aged 40 or over and a quarter of those aged 20–39), and examined them with a questionnaire, a physical examination, lung function tests and blood sampling with DNA extraction. Participants are re-examined in a second round that began in 2014 and are followed through the national Danish health registries for cardiovascular, pulmonary and other diseases and death."; 160000; "CGPS", "Herlev/Østerbroundersøgelsen"; rdfs:label "Copenhagen General Population Study"@en . _:331f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18523221+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Three studies of white individuals from Copenhagen, Denmark, were used: the Copenhagen City Heart Study (CCHS), a 31-year prospective general population study (n = 9022; 28 heterozygotes); the Copenhagen General Population Study (CGPS), a cross-sectional general population study (n = 31,241; 76 heterozygotes); and the Copenhagen Ischemic Heart Disease Study (CIHDS), a case-control study (n = 16,623; 44 heterozygotes)." . _:33202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28530674"; "Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms."; "PMID:28530674", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5555387/unicode"; rdfs:comment "In brief, the European (EUR) studies comprised 16,093 CAD cases and 16,616 controls from EPIC-CVD (a case-cohort study embedded in the pan-European EPIC prospective study), the Copenhagen City Heart Study (CCHS), the Copenhagen Ischemic Heart Disease Study (CIHDS) and the Copenhagen General Population Study (CGPS) all recruited within Copenhagen, Denmark." . _:33212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective general-population cohort run from Herlev and Gentofte Hospital, Copenhagen University Hospital, and modelled on the Copenhagen City Heart Study, which from 2003 to 2015 invited adults aged 20–100 living in the greater Copenhagen area, identified through the Danish Civil Registration System (all those aged 40 or over and a quarter of those aged 20–39), and examined them with a questionnaire, a physical examination, lung function tests and blood sampling with DNA extraction. Participants are re-examined in a second round that began in 2014 and are followed through the national Danish health registries for cardiovascular, pulmonary and other diseases and death."; "PMID:36214322", "PMID:36852012", "PMID:36891075"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 160000; "adults enrolled since 2003 (approximate, enrolment ongoing), 2023"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9960719/"; rdfs:comment "The Copenhagen General Population Study Adults (≥20 years) from the Copenhagen area enrolled since 2003 (~160,000)" . _:33232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14330; , , ; "PMID:35195259"; "A population-based cohort of Chinese men and women aged 35–59, selected in 1998 by cluster random sampling in several provinces of China for the 1998 survey of the China Multi-Center Collaborative Study of Cardiovascular Epidemiology (a separate sample from that study's 1992–1994 cohort), whose participants were followed up in 2007–2008, 2012–2015 and 2018–2020 under the uniform protocol of the China-PAR project to study cardiovascular risk factors and incident atherosclerotic cardiovascular disease."; 11480; "China MUCA (1998)", "China MUCA 1998", "China MUCA-1998", "China Multi-Center Collaborative Study of Cardiovascular Epidemiology", "ChinaMUCA-1998"; rdfs:label "China Multi-Center Collaborative Study of Cardiovascular Epidemiology 1998"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14330 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14330; "cardiovascular disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10249193/unicode"; rdfs:comment "the China Multi‐Center Collaborative Study of Cardiovascular Epidemiology (China MUCA‐1998), which employed a cluster random sampling method to select 11 clusters aged 35–59 years in nine provinces" . _:33252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12302729/fullTextXML"; rdfs:comment "These cohorts together covered 15 provinces and provided a good representation of residents across a wide range of geographical areas in China." . _:33262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35195259"; "A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study."; "PMID:35195259", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9076396/fullTextXML"; rdfs:comment "The validation cohorts were derived from three cohorts in the China-PAR project, including the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA), the China Multi-Center Collaborative Study of Cardiovascular Epidemiology (ChinaMUCA-1998), and Community Intervention of Metabolic Syndrome in China and Chinese Family Health Study (CIMIC)." . _:33272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of Chinese men and women aged 35–59, selected in 1998 by cluster random sampling in several provinces of China for the 1998 survey of the China Multi-Center Collaborative Study of Cardiovascular Epidemiology (a separate sample from that study's 1992–1994 cohort), whose participants were followed up in 2007–2008, 2012–2015 and 2018–2020 under the uniform protocol of the China-PAR project to study cardiovascular risk factors and incident atherosclerotic cardiovascular disease."; "PMID:32433046", "PMID:34327424", "PMID:35195259", "PMID:37305106"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11480; "participants aged 35-59 selected by cluster sampling in 1998 (11 clusters)"; "PMID:34327424"; rdfs:comment "The China MUCA (1992–1994) and the China MUCA (1998) selected 14,392 (9 clusters) and 11,480 participants (11 clusters) aged 35–59 years using cluster random sampling method in 1992–1994 and 1998, respectively." . _:33292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "China MUCA (1998)"; . _:332a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "China MUCA 1998"; . _:332b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "China MUCA-1998"; . _:332c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ChinaMUCA-1998"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14340; , ; "PMID:32005116"; "A prospective population-based cohort of women aged 45–64 registered with a large general practice in Chingford, North-East London, United Kingdom, recruited in 1988–1989 to study osteoarthritis, osteoporosis and other musculoskeletal disease and assessed annually for over 20 years (to 2010) with clinical examinations, nurse-administered questionnaires, hand and knee radiographs and bone density measurements; deaths are traced through the Office for National Statistics."; 1003; "Chingford", "Chingford 1,000 Women Study", "Chingford Study", "Chingford cohort", "Chingford general population cohort", "Chingford general population survey", "Chingford study"; rdfs:label "Chingford 1000 Women Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14340 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:332d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14340; "musculoskeletal disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11029301/fullTextXML"; rdfs:comment "The Chingford study was a population-based prospective cohort study that aimed to assess musculoskeletal disease in the female population." . _:332e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8982643/fullTextXML"; rdfs:comment "The Chingford 1,000 women study is a prospective population-based cohort of women 45-64 years old at the study set up (1989), registered in the large general practice in Chingford (North East London, United Kingdom) [12]." . _:332f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32005116"; "The incidence and characteristics of accelerated knee osteoarthritis among women: the Chingford cohort."; "PMID:32005116", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32005116+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Hence, we determined the incidence and characteristics of AKOA among women in the Chingford Study, which is a prospective community-based cohort." . _:33302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of women aged 45–64 registered with a large general practice in Chingford, North-East London, United Kingdom, recruited in 1988–1989 to study osteoarthritis, osteoporosis and other musculoskeletal disease and assessed annually for over 20 years (to 2010) with clinical examinations, nurse-administered questionnaires, hand and knee radiographs and bone density measurements; deaths are traced through the Office for National Statistics."; "PMID:32005116", "PMID:34288584", "PMID:34537387", "PMID:38637130"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1003; "women included at baseline (1989)"; "PMID:38637130"; rdfs:comment "All 1353 women in that age range were invited to participate, of which 1003 were included." . _:33322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Chingford"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14347; , , ; ; "PMID:26881390"; "A case–control study of prostate cancer in Han Chinese men run by the CHIPGECS collaborative group of Chinese hospitals and universities with Barts Cancer Institute, Queen Mary University of London, which recruited hospital patients with a pathological diagnosis of primary prostate cancer and cancer-free men of comparable age from the community or from hospital attendees having routine physical examinations, in several regions of China (south, southeast, southwest, central and northeast), and whose samples were genotyped with the PRACTICAL consortium on the iCOGS and OncoArray arrays."; 495; 640; "CHIPGECS"; rdfs:label "Chinese Prostate Cancer Genetic and Environmental Correlation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14347 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14347; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26881390+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Genotyping 211,155 SNPs in 495 cases and 640 controls of Chinese ancestry identified several new suggestive Chinese prostate cancer predisposition loci." . _:33342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5008293/fullTextXML"; rdfs:comment "These male Han Chinese subjects were recruited from several regions of China (south, southeast, southwest, middle and northeast) by members of the Chinese Prostate Cancer Genetic and Environmental Correlation Study (CHIPGECS) collaborative group." . _:33352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26881390"; "A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population."; "PMID:26881390", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5008293/fullTextXML"; rdfs:comment "These male Han Chinese subjects were recruited from several regions of China (south, southeast, southwest, middle and northeast) by members of the Chinese Prostate Cancer Genetic and Environmental Correlation Study (CHIPGECS) collaborative group." . _:33362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of prostate cancer in Han Chinese men run by the CHIPGECS collaborative group of Chinese hospitals and universities with Barts Cancer Institute, Queen Mary University of London, which recruited hospital patients with a pathological diagnosis of primary prostate cancer and cancer-free men of comparable age from the community or from hospital attendees having routine physical examinations, in several regions of China (south, southeast, southwest, central and northeast), and whose samples were genotyped with the PRACTICAL consortium on the iCOGS and OncoArray arrays."; "PMID:26881390", "PMID:33623038"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 495; "cases and controls genotyped on the iCOGS array (analysed subset)"; "PMID:26881390"; rdfs:comment "We genotyped 495 prostate cancer cases and 640 age matched non-cancer male controls (Supplementary Table S1) using the iCOGS SNP array [8]." . _:33382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 640; "cases and controls genotyped on the iCOGS array (analysed subset)"; "PMID:26881390"; rdfs:comment "We genotyped 495 prostate cancer cases and 640 age matched non-cancer male controls (Supplementary Table S1) using the iCOGS SNP array [8]." . _:33392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHIPGECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14355; , ; "PMID:37217678"; "A randomized clinical trial among employees of Massachusetts General Hospital in Boston, Massachusetts, aged 20 to 75, who regularly paid for food at the hospital's traffic-light-labelled cafeterias with their employee ID, enrolled between September 2016 and February 2018 and followed for 24 months to test whether a 12-month automated, personalized intervention (feedback on their cafeteria purchases, health and lifestyle tips, social norm comparisons and financial incentives) prevented weight gain and improved diet."; 602; "ChooseWell 365 Study"; rdfs:label "ChooseWell 365"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14355 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:333a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14355; "diet", "workplace cafeteria food choices"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30414448+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ChooseWell 365 study will determine if an automated, personalized worksite intervention to nudge healthier choices improves overall diet and cardiometabolic health." . _:333b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8185595/fullTextXML"; rdfs:comment "This randomized clinical trial was conducted on the main campus of Massachusetts General Hospital (MGH), a large academic teaching hospital in Boston, Massachusetts." . _:333c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37217678"; "Genetic predisposition to macronutrient preference and workplace food choices."; "PMID:37217678", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37217678+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here we examined the associations of polygenic scores for carbohydrate, fat, and protein preference with 12 months' workplace food purchases among 397 hospital employees from the ChooseWell 365 study." . _:333d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized clinical trial among employees of Massachusetts General Hospital in Boston, Massachusetts, aged 20 to 75, who regularly paid for food at the hospital's traffic-light-labelled cafeterias with their employee ID, enrolled between September 2016 and February 2018 and followed for 24 months to test whether a 12-month automated, personalized intervention (feedback on their cafeteria purchases, health and lifestyle tips, social norm comparisons and financial incentives) prevented weight gain and improved diet."; "PMID:30414448", "PMID:34097048"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:333e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 602; "employees enrolled and randomised (2016-2018)"; "PMID:34097048"; rdfs:comment "Among 602 employees enrolled (mean [SD] age, 43.6 [12.2] years; 478 [79.4%] women), 299 were randomized to the intervention group and 303 were randomized to the control group." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14361, _:genid-371333f489424440b12a13b9d98ced822608-genid14363, _:genid-371333f489424440b12a13b9d98ced822608-genid14365; , ; , ; "PMID:29273806"; "A prospective study of schoolchildren in southern California, run by the University of Southern California, that from 1993 recruited successive cohorts from school classrooms in 16 communities chosen to differ in regional air pollution (fourth, seventh and tenth graders in 1993, fourth graders in 1996, and kindergarten and first-grade children in 2002–2003) and followed them through school with yearly questionnaires and lung function tests, to study the chronic effects of air pollution and other environmental and genetic factors on children's respiratory health, asthma and lung function growth."; "The acronym CHS also denotes Cardiovascular Health Study (COHO:0000384); this term is Children's Health Study."@en; 12000; "CHS", "CHS_b", "Childrens Health Study", "Southern California Children's Health Study", "USC Children's Health Study"; rdfs:label "Children's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14361 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14363 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14365 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:333f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14361; "regional ambient air pollution", "traffic-related air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2920902/fullTextXML"; rdfs:comment "The Southern California Children’s Health Study (CHS) was designed to investigate the chronic effects of air pollution on respiratory health." . _:33402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14363; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25694817+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Children's Health Study (CHS) is a continuing series of longitudinal studies that first began in 1993 and has focused on demonstrating the chronic impacts of air pollution on respiratory illnesses from early childhood through adolescence." . _:33412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14365; "respiratory illness"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25694817+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Children's Health Study (CHS) is a continuing series of longitudinal studies that first began in 1993 and has focused on demonstrating the chronic impacts of air pollution on respiratory illnesses from early childhood through adolescence." . _:33422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1241973/fullTextXML"; rdfs:comment "To assess these hypotheses, we conducted a case-control study of risk factors for early-life asthma that was nested in the Children's Health Study (CHS), a population-based study of children's respiratory health in 12 southern California communities." . _:33432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Children's Health Study (CHS) is an ongoing cohort study in southern California investigating both genetic and environmental factors related to childhood asthma and lung function growth." . _:33442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective study of schoolchildren in southern California, run by the University of Southern California, that from 1993 recruited successive cohorts from school classrooms in 16 communities chosen to differ in regional air pollution (fourth, seventh and tenth graders in 1993, fourth graders in 1996, and kindergarten and first-grade children in 2002–2003) and followed them through school with yearly questionnaires and lung function tests, to study the chronic effects of air pollution and other environmental and genetic factors on children's respiratory health, asthma and lung function growth."; "PMID:20371422", "PMID:25694817", "PMID:29273806", "https://healthstudy.usc.edu/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12000; "school children enrolled across all recruitment waves since 1993 (lower bound)"; "https://healthstudy.usc.edu/"; rdfs:comment "More than 12,000 school children living in southern California are involved in this ongoing study." . _:33462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHS"; . _:33472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14373; , ; "PMID:28530674"; "A hospital-based case-control study of ischaemic heart disease in Denmark whose cases are patients from the greater Copenhagen area referred for coronary angiography to Copenhagen University Hospital from 1991 onwards, with ischaemic heart disease documented by coronary stenosis or atherosclerosis on angiography, a positive exercise electrocardiogram or myocardial infarction, and whose controls without ischaemic heart disease are sampled from the Copenhagen General Population Study; with the Copenhagen City Heart Study and the Copenhagen General Population Study it is used in genetic and Mendelian randomization studies of cardiovascular disease."; 5270; 5270; 10540; "CIHDS", "Copenhagen Ischaemic Heart Disease Study", "Copenhagen ischaemic Heart Disease Study"; rdfs:label "Copenhagen Ischemic Heart Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14373 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14373; "ischemic heart disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4606982/unicode"; rdfs:comment "The CIHDS (Copenhagen Ischemic Heart Disease Study) comprises 5,109 patients from the greater Copenhagen area referred for coronary angiography in 1991 to 2010 and 10,231 controls without IHD ascertained as for the CGPS." . _:33492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC5555387"; rdfs:comment "In brief, the European (EUR) studies comprised 16,093 CAD cases and 16,616 controls from EPIC-CVD (a case-cohort study embedded in the pan-European EPIC prospective study), the Copenhagen City Heart Study (CCHS), the Copenhagen Ischemic Heart Disease Study (CIHDS) and the Copenhagen General Population Study (CGPS) all recruited within Copenhagen, Denmark." . _:334a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28530674"; "Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms."; "PMID:28530674", "https://europepmc.org/api/getPdf?pmcid=PMC5555387"; rdfs:comment "In brief, the European (EUR) studies comprised 16,093 CAD cases and 16,616 controls from EPIC-CVD (a case-cohort study embedded in the pan-European EPIC prospective study), the Copenhagen City Heart Study (CCHS), the Copenhagen Ischemic Heart Disease Study (CIHDS) and the Copenhagen General Population Study (CGPS) all recruited within Copenhagen, Denmark." . _:334b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of ischaemic heart disease in Denmark whose cases are patients from the greater Copenhagen area referred for coronary angiography to Copenhagen University Hospital from 1991 onwards, with ischaemic heart disease documented by coronary stenosis or atherosclerosis on angiography, a positive exercise electrocardiogram or myocardial infarction, and whose controls without ischaemic heart disease are sampled from the Copenhagen General Population Study; with the Copenhagen City Heart Study and the Copenhagen General Population Study it is used in genetic and Mendelian randomization studies of cardiovascular disease."; "PMID:22563304", "PMID:22698489", "PMID:25406188"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:334c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5270; "IHD patients referred 1991-2009 plus controls from the CGPS"; "PMID:22563304"; rdfs:comment "The numbers of IHD patients were 3,780 of 54,613 participants in the CGPS (79% prevalent and 21% incident), 2,006 of 10,474 participants in the CCHS (22% prevalent and 78% incident), and 5,270 of 10,540 participants in the CIHDS (100% prevalent)." . _:334d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5270; "IHD patients referred 1991-2009 plus controls from the CGPS"; "PMID:22563304"; rdfs:comment "The numbers of IHD patients were 3,780 of 54,613 participants in the CGPS (79% prevalent and 21% incident), 2,006 of 10,474 participants in the CCHS (22% prevalent and 78% incident), and 5,270 of 10,540 participants in the CIHDS (100% prevalent)." . _:334e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10540; "IHD patients referred 1991-2009 plus controls from the CGPS"; "PMID:22563304"; rdfs:comment "The numbers of IHD patients were 3,780 of 54,613 participants in the CGPS (79% prevalent and 21% incident), 2,006 of 10,474 participants in the CCHS (22% prevalent and 78% incident), and 5,270 of 10,540 participants in the CIHDS (100% prevalent)." . _:334f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIHDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14382; , , ; "PMID:35195259"; "A community-based cohort of Chinese adults aged 18 or over recruited in 2007–2008 by three-stage cluster random sampling at four survey sites, in Shandong, Henan and Jiangsu provinces, chosen for their different levels of economic development; it is one of the sub-cohorts of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR) project, followed up with the other sub-cohorts under a uniform protocol in 2012–2015 and 2018–2020 to study cardiovascular risk factors and incident cardiovascular disease."; 86428; "CIMIC", "Community Intervention of Metabolic Syndrome in China & Chinese Family Health Study"; rdfs:label "Community Intervention of Metabolic Syndrome in China and Chinese Family Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14382 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14382; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7249710/fullTextXML"; rdfs:comment "This study was based on the project of Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR), which was a large collaborative study to investigate the epidemic of CVDs and identify the risk factors in the general Chinese population including the China Multi-Center Collaborative Study of Cardiovascular Epidemiology (China MUCA 1992–1994, and China MUCA 1998), the International Collaborative Study of CVD in Asia (InterASIA), and the Community Intervention of Metabolic Syndrome in China & Chinese Family Health Study (CIMIC)." . _:33512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7249710/fullTextXML"; rdfs:comment "The CIMIC was a large, community-based cohort that was established from 2007 to 2008 and selected four survey sites from three provinces (Shandong, Henan, and Jiangsu) with different economic development levels in China." . _:33522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35195259"; "A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study."; "PMID:35195259", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9076396/fullTextXML"; rdfs:comment "The validation cohorts were derived from three cohorts in the China-PAR project, including the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA), the China Multi-Center Collaborative Study of Cardiovascular Epidemiology (ChinaMUCA-1998), and Community Intervention of Metabolic Syndrome in China and Chinese Family Health Study (CIMIC)." . _:33532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of Chinese adults aged 18 or over recruited in 2007–2008 by three-stage cluster random sampling at four survey sites, in Shandong, Henan and Jiangsu provinces, chosen for their different levels of economic development; it is one of the sub-cohorts of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR) project, followed up with the other sub-cohorts under a uniform protocol in 2012–2015 and 2018–2020 to study cardiovascular risk factors and incident cardiovascular disease."; "PMID:31888885", "PMID:32433046", "PMID:34327424", "PMID:35195259"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 86428; "adults aged 18 or over recruited at baseline (2007-2008)"; "PMID:34327424"; rdfs:comment "The CIMIC is a large community-based study, which recruited 86,428 participants aged ≥18 years by a 3-stage cluster random sampling method in 2007–2008." . _:33552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIMIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14389, _:genid-371333f489424440b12a13b9d98ced822608-genid14391; , ; "PMID:30482948"; "A pharmacogenomic study of acamprosate response in alcohol dependence, conducted from 2008 to 2013 by the Mayo Clinic Center for the Individualized Treatment of Alcoholism, which enrolled men and women aged 18–80 with a primary diagnosis of current alcohol dependence (DSM-IV-TR) whose last drink was at least 5 days before enrolment, from community-based residential and outpatient treatment programmes affiliated with Mayo Clinic in Rochester, Minnesota, and Mayo Clinic Health System sites in Austin and Albert Lea, Minnesota, and La Crosse, Wisconsin, treated them with acamprosate for 3 months in an open-label, naturalistic prospective design and collected DNA and plasma to identify biomarkers of treatment response."; 442; "A Probe Study of Acamprosate: Genes Associated With Response", "ACAM", "CITA", "Mayo Clinic Center for Individualized Treatment of Addiction", "Mayo Clinic Center for Individualized Treatment of Alcohol Dependence", "Mayo Clinic Center for Individualized Treatment of Alcoholism study", "Mayo Clinic Center for the Individual Treatment of Alcohol Dependence", "Mayo Clinic Center for the Individualized Treatment of Alcoholism study"; rdfs:label "Mayo Clinic Center for the Individualized Treatment of Alcoholism Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14389 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14391 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14389; "alcohol dependence (heavy alcohol use)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4350512/fullTextXML"; rdfs:comment "Both men and women between the ages of 18 and 80 with a primary diagnosis of current alcohol dependence based on DSM-IV-TR criteria with the last drink 5 or more days before enrollment were included in the study." . _:33572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14391; "alcohol dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4350512/fullTextXML"; rdfs:comment "Both men and women between the ages of 18 and 80 with a primary diagnosis of current alcohol dependence based on DSM-IV-TR criteria with the last drink 5 or more days before enrollment were included in the study." . _:33582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; rdfs:comment "Participants were recruited from community-based residential and outpatient treatment programs affiliated with Mayo Clinic in Rochester, Minnesota, and the Mayo Clinic Health System sites in Austin, Minnesota, Albert Lea, Minnesota, and La Crosse, Wisconsin." . _:33592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30482948"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; rdfs:comment "The alcohol dependent patients in this sample were recruited as part of the Mayo Clinic Center for Individualized Treatment of Addiction (CITA) pharmacogenomics study of acamprosate response." . _:335a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pharmacogenomic study of acamprosate response in alcohol dependence, conducted from 2008 to 2013 by the Mayo Clinic Center for the Individualized Treatment of Alcoholism, which enrolled men and women aged 18–80 with a primary diagnosis of current alcohol dependence (DSM-IV-TR) whose last drink was at least 5 days before enrolment, from community-based residential and outpatient treatment programmes affiliated with Mayo Clinic in Rochester, Minnesota, and Mayo Clinic Health System sites in Austin and Albert Lea, Minnesota, and La Crosse, Wisconsin, treated them with acamprosate for 3 months in an open-label, naturalistic prospective design and collected DNA and plasma to identify biomarkers of treatment response."; "PMID:25290263", "PMID:35752286", "https://clinicaltrials.gov/api/v2/studies/NCT00662571"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:335b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 442; "participants with alcohol use disorder recruited (2008-2013)"; "PMID:35752286"; rdfs:comment "Previously, the Mayo Clinic Center for the Individualized Treatment of Alcoholism Study (ClinicalTrials.gov Identifier: NCT00662571) recruited 442 participants with AUD [11,12]." . _:335c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACAM"; . _:335d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CITA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14399; , ; "PMID:32887683"; "A case-control study and biobank of juvenile idiopathic arthritis at the Royal Children's Hospital in Melbourne, Victoria, Australia, begun in February 2008, whose cases are children aged 18 or under with juvenile idiopathic arthritis diagnosed by age 16, recruited at hospital clinic visits within six months of diagnosis (incident) or later (prevalent, diagnosed since 1997), and whose controls are healthy Victorian-born children undergoing minor elective surgery at the hospital's Day Surgery Unit; families complete questionnaires on clinical, epidemiological and environmental factors and the children give a blood sample, to identify genomic and environmental risk factors for the disease."; 558; 704; "CLARITY", "CLARITY JIA Biobank", "Childhood Arthritis Risk Factor Identification Study"; rdfs:label "ChiLdhood Arthritis Risk factor Identification sTudY"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14399 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:335e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14399; "juvenile idiopathic arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3551677/fullTextXML"; rdfs:comment "We have established a JIA biobank in Melbourne, Australia called CLARITY – ChiLdhood Arthritis Risk factor Identification sTudY, with the broad aim of identifying genomic and environmental disease risk factors." . _:335f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23153063+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We have established a JIA biobank in Melbourne, Australia called CLARITY - ChiLdhood Arthritis Risk factor Identification sTudY, with the broad aim of identifying genomic and environmental disease risk factors." . _:33602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32887683"; "Genomic risk scores for juvenile idiopathic arthritis and its subtypes."; "PMID:32887683", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7677485/fullTextXML"; rdfs:comment "Finally, in the Australian cohort, from the ChiLdhood Arthritis Risk factor Identification sTudY (CLARITY),28 29 all the cases were JIA diagnosed by a paediatric rheumatologist." . _:33612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study and biobank of juvenile idiopathic arthritis at the Royal Children's Hospital in Melbourne, Victoria, Australia, begun in February 2008, whose cases are children aged 18 or under with juvenile idiopathic arthritis diagnosed by age 16, recruited at hospital clinic visits within six months of diagnosis (incident) or later (prevalent, diagnosed since 1997), and whose controls are healthy Victorian-born children undergoing minor elective surgery at the hospital's Day Surgery Unit; families complete questionnaires on clinical, epidemiological and environmental factors and the children give a blood sample, to identify genomic and environmental risk factors for the disease."; "PMID:23153063"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 558; "JIA cases and controls collected (genotyping set of the 2020 GRS study)"; "PMID:32887683"; rdfs:comment "Lastly, CLARITY29 consisted of 558 cases and 704 controls collected from the Royal Children’s Hospital and Monash Medical Centre in Melbourne." . _:33632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 704; "JIA cases and controls collected (genotyping set of the 2020 GRS study)"; "PMID:32887683"; rdfs:comment "Lastly, CLARITY29 consisted of 558 cases and 704 controls collected from the Royal Children’s Hospital and Monash Medical Centre in Melbourne." . _:33642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLARITY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14407; , ; ; "PMID:26034056"; "A prospective multiethnic cohort of men aged 45 to 69 who were members of the northern and southern California regions of the Kaiser Permanente health plan, recruited in 2002–2003 through a two-stage mailed or online questionnaire with mailing strategies to enrich the cohort with non-white men, and followed through linkage with the health plan's electronic clinical, laboratory, hospitalisation, cancer registry and mortality data, mainly to study the causes of prostate cancer and also of other cancers and non-cancerous conditions in men."; 84170; "CMHS", "California Mens Health Study"; rdfs:label "California Men's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14407 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14407; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16813653+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We established a male, multiethnic cohort primarily to study prostate cancer etiology and secondarily to study the etiologies of other cancer and non-cancer conditions." . _:33662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1569841/fullTextXML"; rdfs:comment "In 2002 – 2003, we established the California Men's Health Study (CMHS), a multiethnic cohort of 84 170 men ages 45 to 69 years who are members of the northern and southern California regions of Kaiser Permanente, the largest managed care organization in California." . _:33672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26034056"; "A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences."; "PMID:26034056", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4527942/unicode"; rdfs:comment "The CMHS is a prospective cohort study of KP California men." . _:33682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multiethnic cohort of men aged 45 to 69 who were members of the northern and southern California regions of the Kaiser Permanente health plan, recruited in 2002–2003 through a two-stage mailed or online questionnaire with mailing strategies to enrich the cohort with non-white men, and followed through linkage with the health plan's electronic clinical, laboratory, hospitalisation, cancer registry and mortality data, mainly to study the causes of prostate cancer and also of other cancers and non-cancerous conditions in men."; "PMID:16813653"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 84170; "men recruited 2002-2003"; "PMID:16813653"; rdfs:comment "We recruited 84,170 participants, approximately 40% from minority populations and over 5,000 who identified themselves as other than heterosexual." . _:336a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CMHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14414; , ; ; "PMID:32424353"; "A case-control study of breast cancer of the Spanish National Cancer Research Centre (CNIO) in Madrid, Spain, whose cases, recruited in 2000–2005, are consecutive breast cancer patients from three public hospitals, two in Madrid and one in Oviedo, and women with at least one affected first-degree relative recruited through the CNIO family cancer clinic in Madrid, and whose controls are women free of breast cancer attending the Menopause Research Centre in Madrid or a free medical check-up for female members of the College of Lawyers in Madrid; it is one of the studies of the Breast Cancer Association Consortium."; 902; 876; "CNIO-BCS"; rdfs:label "Spanish National Cancer Centre Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14414 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:336b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14414; "breast cancer" . _:336c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The CNIO- BCS was supported by the Instituto de Salud Carlos III, the Red Temática de Investigación Cooperativa en Cáncer and grants from the Asociación Española Contra el Cáncer and the Fondo de Investigación Sanitario (PI11/00923 and PI12/00070)." . _:336d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer of the Spanish National Cancer Research Centre (CNIO) in Madrid, Spain, whose cases, recruited in 2000–2005, are consecutive breast cancer patients from three public hospitals, two in Madrid and one in Oviedo, and women with at least one affected first-degree relative recruited through the CNIO family cancer clinic in Madrid, and whose controls are women free of breast cancer attending the Menopause Research Centre in Madrid or a free medical check-up for female members of the College of Lawyers in Madrid; it is one of the studies of the Breast Cancer Association Consortium."; "PMID:25390939"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:336e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 902; "cases and controls in the BCAC COGS analysis (analysed subset), 2014"; "PMID:24548884"; rdfs:comment "Spanish National Cancer Centre Breast Cancer Study (CNIO-BCS) Spain 876 902 242 88" . _:336f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 876; "cases and controls in the BCAC COGS analysis (analysed subset), 2014"; "PMID:24548884"; rdfs:comment "Spanish National Cancer Centre Breast Cancer Study (CNIO-BCS) Spain 876 902 242 88" . _:33702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNIO-BCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14421; , ; "PMID:33079599"; "A retrospective clinic-based cohort of patients with familial hypercholesterolaemia caused by a known mutation, identified by genetic screening among the patients with dyslipidaemia attending the lipid clinic (Nutrition, Metabolism and Atherosclerosis Clinic) of the Institut de recherches cliniques de Montréal in Montreal, Canada, whose clinical records and lipid profiles, measured after a washout of cholesterol-lowering medication, are used to study genetic and clinical modifiers of lipid levels and cardiovascular disease in familial hypercholesterolaemia."; 725; "CNMA", "CNMA cohort", "Clinique de nutrition métabolisme et athérosclérose", "Nutrition, Metabolism and Atherosclerosis Clinic", "Nutrition, Metabolism and Atherosclerosis Clinic (CNMA) of Institut de recherches cliniques de Montréal"; rdfs:label "Nutrition, Metabolism and Atherosclerosis Clinic cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14421 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14421; "familial hypercholesterolemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28456682+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Among the 20,434 subjects attending the lipid clinic, we identified and included 725 individuals who carried an FH causing mutation in this retrospective cohort study." . _:33722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC5138058"; rdfs:comment "A total of 106 unrelated patients were selected from the nutrition, metabolism, and atherosclerosis clinic of the Clinical Research Institute of Montreal." . _:33732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33079599"; "Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia."; "PMID:33079599", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7889287/fullTextXML"; rdfs:comment "In the UK Biobank cohort, cases of monogenic FH were identified from the general population based on genotype, whereas individuals from the BCFH and CNMA cohorts were identified from lipid clinics based on a clinical diagnosis of FH." . _:33742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A retrospective clinic-based cohort of patients with familial hypercholesterolaemia caused by a known mutation, identified by genetic screening among the patients with dyslipidaemia attending the lipid clinic (Nutrition, Metabolism and Atherosclerosis Clinic) of the Institut de recherches cliniques de Montréal in Montreal, Canada, whose clinical records and lipid profiles, measured after a washout of cholesterol-lowering medication, are used to study genetic and clinical modifiers of lipid levels and cardiovascular disease in familial hypercholesterolaemia."; "PMID:28391914", "PMID:28456682", "PMID:33079599"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 725; "FH mutation carriers identified among 20,434 lipid clinic patients (2017)"; "PMID:28456682"; rdfs:comment "Among the 20,434 subjects attending the lipid clinic, we identified and included 725 individuals who carried an FH causing mutation in this retrospective cohort study." . _:33762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNMA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14428; , , ; ; "PMID:23143601"; "A case–control study of lung cancer based at Chonnam National University Hwasun Hospital in Jeollanam-do, South Korea. From 2000 it enrolled consecutive patients, all ethnic Koreans, with newly diagnosed, histologically confirmed incident lung cancer, excluding secondary or recurrent tumours, and compared them with population-based controls to study genetic susceptibility to lung cancer. Its never-smoking women were genotyped genome-wide as one of the studies of the Female Lung Cancer Consortium in Asia."; 3938; 1700; "CNULCS"; rdfs:label "Chonnam National University Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14428 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14428; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3048494/fullTextXML"; rdfs:comment "The study population consisted of 3938 patients with newly diagnosed lung cancer and 1700 population-based controls." . _:33782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The CNULCS was conducted in the Chonnam National University Hwasun Hospital in Jeollanam-do, South Korea and has been previously described" . _:33792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23143601"; "Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia."; "PMID:23143601", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4169232/unicode"; rdfs:comment "Internal sets (HKS, SNU, CNULCS, SWHS, YLCS and components of samples from Japan and GELAC) were genotyped at the NCI Cancer Genomic Research (CGR) Laboratory using the Illumina 660W SNP microarray." . _:337a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of lung cancer based at Chonnam National University Hwasun Hospital in Jeollanam-do, South Korea. From 2000 it enrolled consecutive patients, all ethnic Koreans, with newly diagnosed, histologically confirmed incident lung cancer, excluding secondary or recurrent tumours, and compared them with population-based controls to study genetic susceptibility to lung cancer. Its never-smoking women were genotyped genome-wide as one of the studies of the Female Lung Cancer Consortium in Asia."; "PMID:21316118", "PMID:21342495", "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:337b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3938; "lung cancer patients diagnosed 2000-2010 and population-based controls"; "PMID:21342495"; rdfs:comment "The study population consisted of 3938 patients with newly diagnosed lung cancer and 1700 population-based controls." . _:337c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1700; "lung cancer patients diagnosed 2000-2010 and population-based controls"; "PMID:21342495"; rdfs:comment "The study population consisted of 3938 patients with newly diagnosed lung cancer and 1700 population-based controls." . _:337d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CNULCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14436, _:genid-371333f489424440b12a13b9d98ced822608-genid14438; , ; "PMID:34008864"; "A cross-sectional genetic and epidemiological study of periodontal disease and caries in Gullah African Americans with type 2 diabetes from the Sea Islands and coastal low country of South Carolina. The Medical University of South Carolina ran it as the first project funded through its NIH Center of Biomedical Research Excellence (COBRE) for Oral Health. Participants were recruited in 2004–2006 from Project SuGAR, community health fairs and churches, were examined at MUSC in Charleston or at four off-site centres and gave blood for DNA, so that periodontal disease could be related to diabetes control, cytokine genes and inflammation. Their data form one of the studies of the Sea Islands Genetics Network."; 235; "COBRE", "COBRE for Oral Health", "COBRE for Oral Health Study", "Center of Biomedical Research Excellence for Oral Health pilot project"; rdfs:label "An Epidemiological Study of Periodontal Disease and Diabetes: Cytokine Genes and Inflammation Factors"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14436 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14438 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:337e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14436; "periodontal disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19563285+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two hundred thirty-five Gullah African Americans with type 2 diabetes were included." . _:337f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14438; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19563285+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two hundred thirty-five Gullah African Americans with type 2 diabetes were included." . _:33802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2862011/unicode"; rdfs:comment "Recruitment was restricted to residents of South Carolina living along the coastal border and 30 miles inland." . _:33812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34008864"; "Genetic landscape of Gullah African Americans."; "PMID:34008864", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8286328/fullTextXML"; rdfs:comment "Participants from three SIFP projects were included in our study: the Sea Island Genetic African American Registry (Project SuGAR) (Divers et al., 2010); the Center of Biomedical Research Excellence (COBRE) for Oral Health pilot project, “An Epidemiological Study of Periodontal Disease and Diabetes: Cytokine Genes and Inflammation Factors” (Fernandes et al., 2009); and the Systemic Lupus Erythematosus in Gullah Health (SLEIGH) Study (Kamen et al., 2008)." . _:33822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional genetic and epidemiological study of periodontal disease and caries in Gullah African Americans with type 2 diabetes from the Sea Islands and coastal low country of South Carolina. The Medical University of South Carolina ran it as the first project funded through its NIH Center of Biomedical Research Excellence (COBRE) for Oral Health. Participants were recruited in 2004–2006 from Project SuGAR, community health fairs and churches, were examined at MUSC in Charleston or at four off-site centres and gave blood for DNA, so that periodontal disease could be related to diabetes control, cytokine genes and inflammation. Their data form one of the studies of the Sea Islands Genetics Network."; "PMID:19563285", "PMID:23966867", "PMID:25364473", "PMID:34008864"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 235; "Gullah African Americans with type 2 diabetes examined (2004-2006)"; "PMID:19563285"; rdfs:comment "A total of 235 subjects were examined; 173 (73.62%) were female and 62 (26.38%) male." . _:33842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COBRE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14445, _:genid-371333f489424440b12a13b9d98ced822608-genid14447; , ; ; "PMID:34143812"; "A biobank of whole blood left over from the clinical care of patients admitted in 2010–2017 to six cardiology departments in the Capital Region of Denmark, around Copenhagen. The samples are linked to Danish clinical registries such as the Eastern Danish Heart Registry, and genotyped subsets of the patients, for example those who underwent coronary angiography in 2010–2014, are used to study the genetics of coronary artery disease, heart failure and other cardiovascular disease."; 80000; "COGEN", "Cogen", "The Copenhagen Cardiovascular Genetic study"; rdfs:label "Copenhagen Cardiovascular Genetic study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14445 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14447 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14445; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6364925/fullTextXML"; rdfs:comment "The Copenhagen Cardiovascular Genetic study (COGEN) is a biobank that has collected superfluous whole blood from patients admitted to six cardiology departments in the Capital region of Copenhagen from 2010–2017." . _:33862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14447; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6364925/fullTextXML"; rdfs:comment "The Copenhagen Cardiovascular Genetic study (COGEN) is a biobank that has collected superfluous whole blood from patients admitted to six cardiology departments in the Capital region of Copenhagen from 2010–2017." . _:33872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8213191/fullTextXML"; rdfs:comment "The Copenhagen Cardiovascular Genetic study (COGEN) is comprised of approximately 80,000 patients admitted to six cardiology departments in the capital region of Copenhagen, Denmark, from 2010–2017." . _:33882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34143812"; "Insulin resistance genetic risk score and burden of coronary artery disease in patients referred for coronary angiography."; "PMID:34143812", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8213191/fullTextXML"; rdfs:comment "The Copenhagen Cardiovascular Genetic study (COGEN) is comprised of approximately 80,000 patients admitted to six cardiology departments in the capital region of Copenhagen, Denmark, from 2010–2017." . _:33892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of whole blood left over from the clinical care of patients admitted in 2010–2017 to six cardiology departments in the Capital Region of Denmark, around Copenhagen. The samples are linked to Danish clinical registries such as the Eastern Danish Heart Registry, and genotyped subsets of the patients, for example those who underwent coronary angiography in 2010–2014, are used to study the genetics of coronary artery disease, heart failure and other cardiovascular disease."; "PMID:30566436", "PMID:30726294", "PMID:34143812", "PMID:34480422"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:338a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 80000; "patients with samples in the biobank (admissions 2010-2017), approximate"; "PMID:34143812"; rdfs:comment "The Copenhagen Cardiovascular Genetic study (COGEN) is comprised of approximately 80,000 patients admitted to six cardiology departments in the capital region of Copenhagen, Denmark, from 2010–2017." . _:338b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGEN"; . _:338c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cogen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14455, _:genid-371333f489424440b12a13b9d98ced822608-genid14457; , ; "PMID:21655089"; "A Scotland-wide study run from Edinburgh from 1999 that approached patients newly diagnosed with colorectal cancer at age 55 or younger. Research nurses visited them at home to take a family pedigree, give genetic counselling and take blood for genetic testing, to evaluate a strategy for finding families with hereditary non-polyposis colorectal cancer and to study inherited susceptibility to colorectal cancer. Population controls matched by age, sex and area of residence were recruited through the Scottish NHS. Its early-onset cases and controls formed the Scotland1 genome-wide association study of colorectal cancer."; "The acronym COGS also denotes Collaborative Oncological Gene-environment Study (COHO:0000731); this term is Colorectal Cancer Genetic Susceptibility Study."@en, "The name Colorectal Cancer Genetics Study also denotes Colorectal Cancer Genetics & Genomics (COHO:0000585); this term is Colorectal Cancer Genetic Susceptibility Study."@en; 1012; 1012; "COGS", "Colorectal Cancer Genetics Study", "Colorectal Cancer Susceptibility Study"; rdfs:label "Colorectal Cancer Genetic Susceptibility Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14455 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14457 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:338d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14455; "colorectal cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4747430/unicode"; rdfs:comment "The Scotland1 GWAS consisted of genotyping 1,012 early-onset Scottish CRC cases and 1,012 controls using the Illumina HumanHap300 and HumanHap240S arrays (COGS Study)." . _:338e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14457; "hereditary non-polyposis colorectal cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4747430/unicode"; rdfs:comment "The Scotland1 GWAS consisted of genotyping 1,012 early-onset Scottish CRC cases and 1,012 controls using the Illumina HumanHap300 and HumanHap240S arrays (COGS Study)." . _:338f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2394344/fullTextXML"; rdfs:comment "The Colorectal Cancer Genetic Susceptibility (COGS) study aims to evaluate a new Scottish-wide research strategy for identifying individuals at high risk of developing HNPCC." . _:33902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21655089"; "Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer."; "PMID:21655089", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3107194/fullTextXML"; rdfs:comment "Scotland1 (COGS) [1] included 980 CRC cases (51% male; mean age at diagnosis 49.6 years, SD±6.1) and 1,002 cancer-free population controls (51% male; mean age 51.0 years; SD±5.9)." . _:33912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Scotland-wide study run from Edinburgh from 1999 that approached patients newly diagnosed with colorectal cancer at age 55 or younger. Research nurses visited them at home to take a family pedigree, give genetic counselling and take blood for genetic testing, to evaluate a strategy for finding families with hereditary non-polyposis colorectal cancer and to study inherited susceptibility to colorectal cancer. Population controls matched by age, sex and area of residence were recruited through the Scottish NHS. Its early-onset cases and controls formed the Scotland1 genome-wide association study of colorectal cancer."; "PMID:14562005", "PMID:15931596", "PMID:18372901", "PMID:19011631", "PMID:22634755"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1012; "early-onset cases and controls genotyped for the Scotland1 GWAS (analysed subset)"; "PMID:22634755"; rdfs:comment "The Scotland1 GWAS consisted of genotyping 1,012 early-onset Scottish CRC cases and 1,012 controls using the Illumina HumanHap300 and HumanHap240S arrays (COGS Study)." . _:33932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1012; "early-onset cases and controls genotyped for the Scotland1 GWAS (analysed subset)"; "PMID:22634755"; rdfs:comment "The Scotland1 GWAS consisted of genotyping 1,012 early-onset Scottish CRC cases and 1,012 controls using the Illumina HumanHap300 and HumanHap240S arrays (COGS Study)." . _:33942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14465, _:genid-371333f489424440b12a13b9d98ced822608-genid14467, _:genid-371333f489424440b12a13b9d98ced822608-genid14469, _:genid-371333f489424440b12a13b9d98ced822608-genid14471, _:genid-371333f489424440b12a13b9d98ced822608-genid14473; , , , ; ; "PMID:25472670"; "An international, multicentre prospective cohort of adults newly diagnosed with invasive colorectal cancer of any stage. It began at the Fred Hutchinson Cancer Research Center in Seattle in 2007 and from 2009 added sites in Tampa, Heidelberg (Germany), Salt Lake City, Los Angeles, St. Louis and Memphis. Patients are enrolled before surgery. They complete questionnaires and give blood, urine and stool at enrolment and repeatedly during five years of follow-up, tumour and adipose tissue are collected at surgery, and treatment and outcome data are abstracted from medical records, so that biomarkers and modifiable lifestyle factors that predict recurrence, survival, treatment toxicity and quality of life can be found."; 2000; "ColoCare", "ColoCare study", "International ColoCare Study"; rdfs:label "ColoCare Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14465 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14467 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14469 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14471 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14473 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14465; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25472670+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This pilot study is based on the ColoCare Study, a cohort study of newly diagnosed patients with stage I-IV colorectal cancer." . _:33962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14467; "alcohol consumption"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6420345/unicode"; rdfs:comment "The identification of behavioral factors affecting prognosis and response to treatment is a research area ColoCare is designed to address through a series of surveys that include key health behavior research questions related to potentially modifiable exposures such as physical activity, non-steroidal anti-inflammatory drug (NSAID) use, alcohol consumption, dietary factors, and many more." . _:33972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14469; "dietary supplement use"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6420345/unicode"; rdfs:comment "The identification of behavioral factors affecting prognosis and response to treatment is a research area ColoCare is designed to address through a series of surveys that include key health behavior research questions related to potentially modifiable exposures such as physical activity, non-steroidal anti-inflammatory drug (NSAID) use, alcohol consumption, dietary factors, and many more." . _:33982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14471; "dietary factors"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6420345/unicode"; rdfs:comment "The identification of behavioral factors affecting prognosis and response to treatment is a research area ColoCare is designed to address through a series of surveys that include key health behavior research questions related to potentially modifiable exposures such as physical activity, non-steroidal anti-inflammatory drug (NSAID) use, alcohol consumption, dietary factors, and many more." . _:33992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14473; "physical activity"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6420345/unicode"; rdfs:comment "The identification of behavioral factors affecting prognosis and response to treatment is a research area ColoCare is designed to address through a series of surveys that include key health behavior research questions related to potentially modifiable exposures such as physical activity, non-steroidal anti-inflammatory drug (NSAID) use, alcohol consumption, dietary factors, and many more." . _:339a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30523039+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ColoCare is recruiting newly diagnosed patients with colorectal cancer across six sites in the United States and one site in Germany." . _:339b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25472670"; "Suitability of circulating miRNAs as potential prognostic markers in colorectal cancer."; "PMID:25472670", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25472670+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This pilot study is based on the ColoCare Study, a cohort study of newly diagnosed patients with stage I-IV colorectal cancer." . _:339c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international, multicentre prospective cohort of adults newly diagnosed with invasive colorectal cancer of any stage. It began at the Fred Hutchinson Cancer Research Center in Seattle in 2007 and from 2009 added sites in Tampa, Heidelberg (Germany), Salt Lake City, Los Angeles, St. Louis and Memphis. Patients are enrolled before surgery. They complete questionnaires and give blood, urine and stool at enrolment and repeatedly during five years of follow-up, tumour and adipose tissue are collected at surgery, and treatment and outcome data are abstracted from medical records, so that biomarkers and modifiable lifestyle factors that predict recurrence, survival, treatment toxicity and quality of life can be found."; "PMID:30523039"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:339d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "patients recruited across all sites by April 2018 (lower bound)"; "PMID:30523039"; rdfs:comment "As of April 2018, we have recruited >2,000 patients across all sites." . _:339e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ColoCare"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14480, _:genid-371333f489424440b12a13b9d98ced822608-genid14482, _:genid-371333f489424440b12a13b9d98ced822608-genid14484, _:genid-371333f489424440b12a13b9d98ced822608-genid14486; , ; ; "PMID:29917119"; "A multicentre prospective cohort of patients newly diagnosed with colorectal cancer of any stage, recruited in 2010–2020 at 11 hospitals in the Netherlands by investigators at Wageningen University. Participants complete questionnaires on diet, dietary supplements, physical activity, body weight and quality of life and give blood at diagnosis and 6 months, 2 years and 5 years later, while clinical data come from the Netherlands Cancer Registry and hospital records. The aim is to learn how diet and other lifestyle factors influence recurrence, survival and quality of life after colorectal cancer."; 2107; "COLON", "COLON study", "COlorectal cancer: Longitudinal, Observational study on Nutritional and lifestyle factors that may influence colorectal tumour recurrence, survival and quality of life", "Colorectal Cancer: Longitudinal Observational study on Nutritional and lifestyle factors that influence colorectal tumor recurrence, survival and quality of life", "Colorectal cancer: Longitudinal, Observational study on Nutritional and lifestyle factors that may influence colorectal tumour recurrence, survival and quality of life", "Longitudinal, observational study on nutritional and lifestyle factors for colorectal cancer and related outcomes"; rdfs:label "Colorectal cancer: Longitudinal, Observational study on Nutritional and lifestyle factors that influence colorectal tumour recurrence, survival and quality of life"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14480 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14484 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14486 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:339f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14480; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4046039/fullTextXML"; rdfs:comment "The COLON study is a multi-centre prospective cohort study among at least 1,000 incident colorectal cancer patients recruited from 11 hospitals in the Netherlands." . _:33a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14482; "dietary supplement use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24886284+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main aim of this study is to assess associations of diet and other lifestyle factors, with colorectal cancer recurrence, survival and quality of life." . _:33a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14484; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24886284+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main aim of this study is to assess associations of diet and other lifestyle factors, with colorectal cancer recurrence, survival and quality of life." . _:33a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14486; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24886284+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main aim of this study is to assess associations of diet and other lifestyle factors, with colorectal cancer recurrence, survival and quality of life." . _:33a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4046039/fullTextXML"; rdfs:comment "The COLON study is a multi-centre prospective cohort study among at least 1,000 incident colorectal cancer patients recruited from 11 hospitals in the Netherlands." . _:33a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29917119"; "Novel Common Genetic Susceptibility Loci for Colorectal Cancer."; "PMID:29917119", "https://europepmc.org/api/getPdf?pmcid=PMC6555904"; rdfs:comment "Colorectal Cancer: Longitudinal Observational study on Nutritional and lifestyle factors that influence colorectal tumor recur- rence, survival and quality of life (COLON): The COLON study is sponsored by Wereld Kanker Onderzoek Fonds, in- cluding funds from grant 2014/1179 as part of the World Cancer Research Fund International Regular Grant Programme, by Alpe d’Huzes and the Dutch Cancer Society (UM 2012–5653, UW 2013-5927, UW2015-7946), and by TRANSCAN (JTC2012-MetaboCCC, JTC2013-FOCUS)." . _:33a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort of patients newly diagnosed with colorectal cancer of any stage, recruited in 2010–2020 at 11 hospitals in the Netherlands by investigators at Wageningen University. Participants complete questionnaires on diet, dietary supplements, physical activity, body weight and quality of life and give blood at diagnosis and 6 months, 2 years and 5 years later, while clinical data come from the Netherlands Cancer Registry and hospital records. The aim is to learn how diet and other lifestyle factors influence recurrence, survival and quality of life after colorectal cancer."; "PMID:24886284", "PMID:30510241", "PMID:41212533"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2107; "adults newly diagnosed with stage I-IV CRC recruited 2010-2020"; "PMID:41212533"; rdfs:comment "The COLON study is a prospective cohort study among 2107 adults newly diagnosed with stage I-IV CRC, recruited between 2010 and 2020 via 11 hospitals throughout the Netherlands." . _:33a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COLON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14493; , , , ; "PMID:31553449"; "A case–control study of breast cancer in Latin American women, led by investigators at the Universidad del Tolima in Ibagué, Colombia, and the University of California, Davis. From 2011 it recruited women with incident invasive breast cancer, through population cancer registries and large cancer hospitals in Bogotá, Ibagué and Neiva in central Colombia and Pasto in the south, together with cancer-free controls from the same institutions matched on education, socioeconomic status and local origin. A Mexican arm comprises cases diagnosed from 2010 at the Social Security hospital in Mexico City, with blood-donor controls from the same hospital. The study investigates inherited and environmental causes of breast cancer, and its Colombian and Mexican arms, genotyped on different arrays, are analysed as separate datasets."; 955; 1053; "COLUMBUS", "COLUMBUS Consortium", "Colombian Study of Environmental and Heritable Causes of Breast Cancer", "Post Columbian Study of Environmental and Heritable Causes of Breast Cancer"; rdfs:label "Post-Columbian Study of Environmental and Heritable Causes of Breast Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14493 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14493; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4204111/fullTextXML"; rdfs:comment "COLUMBUS is a population-based case–control study of breast cancer conducted in four cities: Bogota, Ibague and Neiva, from the Central Colombian Andes region, and Pasto, from the Colombian South." . _:33a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11799839/fullTextXML"; rdfs:comment "The Post-Columbian Study of Environmental and Heritable Causes of Breast Cancer (COLUMBUS) is a case–control study of breast cancer with individuals recruited throughout large cancer hospitals in central and southern Colombia and Mexico City." . _:33aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31553449"; "A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women."; "PMID:31553449", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7301155/supplementaryFiles"; rdfs:comment "The Post-Columbian Study of Environmental and Heritable Causes of Breast Cancer (COLUMBUS) is a case-control study of breast cancer with individuals recruited throughout large cancer hospitals in central and 3 southern Colombia and Mexico City." . _:33ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of breast cancer in Latin American women, led by investigators at the Universidad del Tolima in Ibagué, Colombia, and the University of California, Davis. From 2011 it recruited women with incident invasive breast cancer, through population cancer registries and large cancer hospitals in Bogotá, Ibagué and Neiva in central Colombia and Pasto in the south, together with cancer-free controls from the same institutions matched on education, socioeconomic status and local origin. A Mexican arm comprises cases diagnosed from 2010 at the Social Security hospital in Mexico City, with blood-donor controls from the same hospital. The study investigates inherited and environmental causes of breast cancer, and its Colombian and Mexican arms, genotyped on different arrays, are analysed as separate datasets."; "PMID:25327703", "PMID:31553449", "PMID:39625644"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 955; "Colombian arm only: cases diagnosed 2011-2017 and controls in the 2024 PRS analysis"; "PMID:39625644"; rdfs:comment "In the COLUMBUS-Colombia study, we included 955 breast cancer cases diagnosed from 2011 to 2017, ages 21 to 88 years, and 1,053 controls who did not have first-degree relatives with breast cancer and matched controls with cases by recruiting hospital, education level, socioeconomic status, and local origin data." . _:33ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1053; "Colombian arm only: cases diagnosed 2011-2017 and controls in the 2024 PRS analysis"; "PMID:39625644"; rdfs:comment "In the COLUMBUS-Colombia study, we included 955 breast cancer cases diagnosed from 2011 to 2017, ages 21 to 88 years, and 1,053 controls who did not have first-degree relatives with breast cancer and matched controls with cases by recruiting hospital, education level, socioeconomic status, and local origin data." . _:33ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COLUMBUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14501, _:genid-371333f489424440b12a13b9d98ced822608-genid14503; , ; "PMID:28598434"; "A kidney cancer study run by Cancer Council Victoria with QIMR Berghofer, the Victorian and Queensland cancer registries and hospitals and familial cancer clinics across Australia; its Queensland arm is called the CARE Study. Its population-based case–control family component recruited, through the Victorian and Queensland cancer registries, people diagnosed in 2009–2015, at age 18–74, with histologically confirmed renal cell carcinoma, with siblings and partners of cases as controls. The study also enrolled people with a strong family history of kidney cancer or a hereditary kidney cancer syndrome. Participants completed questionnaires on health, lifestyle and family and medical history and gave blood, so that lifestyle, environmental and genetic causes of kidney cancer could be investigated."; 1424; "CARES", "CONFIRM", "CONFIRM Kidney Study", "ConFIRM", "Consortium For the Investigation of Renal Malignancies", "conFIRM"; rdfs:label "Consortium for the Investigation of Renal Malignancies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14501 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14503 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14501; "kidney cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11393909/fullTextXML"; rdfs:comment "The study included Australian residents diagnosed between 2009 and 2015 with a histologically confirmed RCC (ICD-10 C64) at age 18–74 years." . _:33b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14503; "renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11393909/fullTextXML"; rdfs:comment "The study included Australian residents diagnosed between 2009 and 2015 with a histologically confirmed RCC (ICD-10 C64) at age 18–74 years." . _:33b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11393909/fullTextXML"; rdfs:comment "The study included Australian residents diagnosed between 2009 and 2015 with a histologically confirmed RCC (ICD-10 C64) at age 18–74 years." . _:33b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28598434"; "Genome-wide association study identifies multiple risk loci for renal cell carcinoma."; "PMID:28598434", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5472706/supplementaryFiles"; rdfs:comment "ConFIRM/MCCS The ConFIRM study, also known as CARES, was supported by the Victorian Cancer Agency (PTCB08_05), the Australian National Health and Medical Research Council (Project Grant 1011626)." . _:33b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A kidney cancer study run by Cancer Council Victoria with QIMR Berghofer, the Victorian and Queensland cancer registries and hospitals and familial cancer clinics across Australia; its Queensland arm is called the CARE Study. Its population-based case–control family component recruited, through the Victorian and Queensland cancer registries, people diagnosed in 2009–2015, at age 18–74, with histologically confirmed renal cell carcinoma, with siblings and partners of cases as controls. The study also enrolled people with a strong family history of kidney cancer or a hereditary kidney cancer syndrome. Participants completed questionnaires on health, lifestyle and family and medical history and gave blood, so that lifestyle, environmental and genetic causes of kidney cancer could be investigated."; "PMID:28598434", "PMID:34562747", "PMID:39272843", "https://web.archive.org/web/20221025011857/https://www.cancervic.org.au/research/epidemiology/cec-programs/confirm.html"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1424; "registry-identified RCC cases (diagnosed 2009-2015) who consented; controls not counted"; "PMID:39272843"; rdfs:comment "Of the 3113 individuals diagnosed with RCC who were invited to participate in CONFIRM, 1424 provided consent." . _:33b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CARES"; . _:33b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONFIRM"; . _:33b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ConFIRM"; . _:33b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "conFIRM"; . a owl:NamedIndividual, ; , ; "PMID:3738950"; "A nationwide Danish hospital register, established in 1977 from the hospital discharge records that Denmark's counties were asked to submit and now kept by the Danish Health Data Authority, that records every patient discharged from Danish non-psychiatric hospitals since 1977 and psychiatric inpatients and emergency-department and outpatient specialty-clinic contacts since 1995, with diagnoses, examinations, treatments and surgical procedures. Kept primarily to monitor hospital use for health-care planning, it is also used, through linkage by personal identification number, for disease monitoring, quality assurance and research."; 8085603; "DNPR", "Danish National Hospital Register", "Danish National Patient Registry", "Danish National Registry of Patients", "LPR", "Landspatientregisteret"; rdfs:label "Danish National Patient Register"@en . _:33b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42604063+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Danish National Patient Register (DNPR) is an important data source for register-based health-related research, providing detailed information on all hospital contacts in Denmark." . _:33ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:3738950"; "Cerebral thromboembolism among young women and men in Denmark 1977-1982."; "PMID:3738950", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A3738950+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the period 1977-1982, the Danish National Patient Register recorded 1000 cases of cerebral thromboembolic attacks among women 15-44 years of age, and 971 cases among men of the same age." . _:33bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide Danish hospital register, established in 1977 from the hospital discharge records that Denmark's counties were asked to submit and now kept by the Danish Health Data Authority, that records every patient discharged from Danish non-psychiatric hospitals since 1977 and psychiatric inpatients and emergency-department and outpatient specialty-clinic contacts since 1995, with diagnoses, examinations, treatments and surgical procedures. Kept primarily to monitor hospital use for health-care planning, it is also used, through linkage by personal identification number, for disease monitoring, quality assurance and research."; "PMID:26604824", "https://english.sundhedsdatastyrelsen.dk/health-data-and-registers/national-health-registers"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8085603; "distinct persons registered at least once, 1977-2012"; "PMID:26604824"; rdfs:comment "During this period, 8,085,603 distinct persons were registered in the DNPR at least once." . _:33bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNPR"; . _:33be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LPR"; . a owl:NamedIndividual, ; , ; "PMID:23151390"; "A study of young adult university students aged 18–22, most of them Duke University undergraduates recruited on campus in Durham, North Carolina, United States, who between 2010 and 2016 completed self-report and behavioural measures, functional and structural brain MRI and genotyping in Duke University's Laboratory of NeuroGenetics. People with psychiatric diagnoses were not excluded, as the study set out to relate variation in behaviour, brain and genes to risk for psychopathology."; 1332; "DNS", "Duke Neurogenetics study"; rdfs:label "Duke Neurogenetics Study"@en . _:33bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11071117/fullTextXML"; rdfs:comment "The Duke Neurogenetics Study (DNS) data were collected from high-functioning young adult university students in the United States, so that it would be premature to assume that the same findings would be replicated in samples drawn from the general population." . _:33c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23151390"; "Neural responses to threat and reward interact to predict stress-related problem drinking: A novel protective role of the amygdala."; "PMID:23151390", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23151390+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used well-established neuroimaging paradigms to probe threat-related amygdala and reward-related ventral striatum reactivity in a sample of 200 young adult students from the ongoing Duke Neurogenetics Study." . _:33c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of young adult university students aged 18–22, most of them Duke University undergraduates recruited on campus in Durham, North Carolina, United States, who between 2010 and 2016 completed self-report and behavioural measures, functional and structural brain MRI and genotyping in Duke University's Laboratory of NeuroGenetics. People with psychiatric diagnoses were not excluded, as the study set out to relate variation in behaviour, brain and genes to risk for psychopathology."; "PMID:28887539", "PMID:31629936", "PMID:31677585", "PMID:38711811"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1332; "university students in the full DNS sample"; "PMID:31629936"; rdfs:comment "The present analyses focus on a substantially smaller subsample of the full DNS sample (N = 1332) because the measure of caregiving was added to the DNS protocol during the final year of data collection." . _:33c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14524, _:genid-371333f489424440b12a13b9d98ced822608-genid14526; , ; "PMID:27649491"; "A prospective population-based study of osteoporosis and fracture that in 1989 invited all men and women aged 60 or over living in Dubbo, New South Wales, Australia, a city chosen because its age and sex structure resembled Australia's and its isolation allowed near-complete ascertainment of fractures, and recruited further participants from 2000. Run by investigators of the Garvan Institute of Medical Research, Sydney, it reassessed participants every two to three years with interviews and bone densitometry and recorded fractures from the area's radiology services until 2020."; 4000; "DOES", "Dubbo Osteoporosis Epidemiology study"; rdfs:label "Dubbo Osteoporosis Epidemiology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14524 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14526 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14524; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7812076+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This longitudinal population-based study documents the incidence of all symptomatic fractures from 1989 to 1992 in an elderly, predominantly Caucasian population of males and females (> or = 60 years as at 1 January 1989) living in the geographically isolated region of the city of Dubbo, NSW, Australia." . _:33c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14526; "fracture"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7812076+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This longitudinal population-based study documents the incidence of all symptomatic fractures from 1989 to 1992 in an elderly, predominantly Caucasian population of males and females (> or = 60 years as at 1 January 1989) living in the geographically isolated region of the city of Dubbo, NSW, Australia." . _:33c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7812076+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This longitudinal population-based study documents the incidence of all symptomatic fractures from 1989 to 1992 in an elderly, predominantly Caucasian population of males and females (> or = 60 years as at 1 January 1989) living in the geographically isolated region of the city of Dubbo, NSW, Australia." . _:33c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27649491"; "Prediction of Bone Mineral Density and Fragility Fracture by Genetic Profiling."; "PMID:27649491", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27649491+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Sixty-two bone mineral density (BMD)-associated single-nucleotide polymorphisms (SNPs) were genotyped in 557 men and 902 women who had participated in the Dubbo Osteoporosis Epidemiology Study." . _:33c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based study of osteoporosis and fracture that in 1989 invited all men and women aged 60 or over living in Dubbo, New South Wales, Australia, a city chosen because its age and sex structure resembled Australia's and its isolation allowed near-complete ascertainment of fractures, and recruited further participants from 2000. Run by investigators of the Garvan Institute of Medical Research, Sydney, it reassessed participants every two to three years with interviews and bone densitometry and recorded fractures from the area's radiology services until 2020."; "PMID:15727686", "PMID:37701154", "PMID:38485241"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4000; "men and women aged 60+ recruited 1989-2020 (approximate)"; "PMID:38485241"; rdfs:comment "Approximately 4,000 men and women aged 60 years and older have been recruited and followed up for almost 30 years." . _:33ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14533, _:genid-371333f489424440b12a13b9d98ced822608-genid14535; , ; "PMID:10340280"; "An investigator-initiated, partly randomised multicentre trial in Denmark that in 1990–1993 enrolled healthy white women aged 45–58 in early menopause, recruited by direct mailing to a random sample of women from the general population, and allocated them, open label, to hormone replacement therapy or no treatment either at random or by their own choice. Planned to run for 20 years, with its randomised treatment stopped in 2002, it was set up to test whether hormone replacement therapy started soon after menopause prevents osteoporotic fractures and to find clinical, biochemical and densitometric predictors of low bone mass and fracture."; 2016; "DOPS"; rdfs:label "Danish Osteoporosis Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14533 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14535 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14533; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10340280+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 1990 we initiated a 20 year, partly randomised study (Danish Osteoporosis Prevention Study, DOPS) in order to (a) evaluate clinical, biochemical and osteodensitometric variables as predictors of low bone mass and future osteoporotic fractures, and (b) test the hypothesis, that hormone replacement therapy (HRT) initiated shortly after menopause reduces the risk of later osteoporotic fractures." . _:33cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14535; "osteoporotic fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10340280+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 1990 we initiated a 20 year, partly randomised study (Danish Osteoporosis Prevention Study, DOPS) in order to (a) evaluate clinical, biochemical and osteodensitometric variables as predictors of low bone mass and future osteoporotic fractures, and (b) test the hypothesis, that hormone replacement therapy (HRT) initiated shortly after menopause reduces the risk of later osteoporotic fractures." . _:33cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:10340280"; "The Danish Osteoporosis Prevention Study (DOPS): project design and inclusion of 2000 normal perimenopausal women."; "PMID:10340280", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10340280+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 1990 we initiated a 20 year, partly randomised study (Danish Osteoporosis Prevention Study, DOPS) in order to (a) evaluate clinical, biochemical and osteodensitometric variables as predictors of low bone mass and future osteoporotic fractures, and (b) test the hypothesis, that hormone replacement therapy (HRT) initiated shortly after menopause reduces the risk of later osteoporotic fractures." . _:33ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An investigator-initiated, partly randomised multicentre trial in Denmark that in 1990–1993 enrolled healthy white women aged 45–58 in early menopause, recruited by direct mailing to a random sample of women from the general population, and allocated them, open label, to hormone replacement therapy or no treatment either at random or by their own choice. Planned to run for 20 years, with its randomised treatment stopped in 2002, it was set up to test whether hormone replacement therapy started soon after menopause prevents osteoporotic fractures and to find clinical, biochemical and densitometric predictors of low bone mass and fracture."; "PMID:10340280", "PMID:23048011"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2016; "women enrolled 1990-1993 (randomised and non-randomised arms)"; "PMID:23048011"; rdfs:comment "Between 1990 and 1993, 2016 women were enrolled in a prospectively followed cohort." . _:33d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14541; , ; ; "PMID:42365137"; "A population-based case–control study of epithelial ovarian cancer in western Washington State, United States, run from Seattle with funding from the US National Cancer Institute, that enrolled women aged 35–74 diagnosed in 2002–2009 in a 13-county area, identified through the region's SEER cancer registry, together with controls from the same area identified by random-digit dialling, and collected in-person interviews and, from cases, tumour tissue."; 1502; 1849; "DOV", "DOVE", "Diseases of the Ovary and Their Evaluation Study", "Diseases of the Ovary and their Evaluation"; rdfs:label "Diseases of the Ovary and their Evaluation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14541 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14541; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13534713/fullTextXML"; rdfs:comment "DOVE is a population-based ovarian cancer case-control study that enrolled 1502 ovarian cancer cases ages 35–74 years from 13 counties in Western Washington State between 2002 and 2009 [19]." . _:33d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3650102/unicode"; rdfs:comment "DOV Diseases of the Ovary and their Evaluation USA: 13 counties in western Washington state" . _:33d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42365137"; "Ovarian cancer tumor immune profiles associated with intrauterine device and oral contraceptive use."; "PMID:42365137", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13534713/fullTextXML"; rdfs:comment "This analysis included women with epithelial ovarian cancer from six studies: African American Cancer Epidemiology Study (AACES), Diseases of the Ovary and their Evaluation Study (DOVE), Hormones and Ovarian Cancer Prediction Study (HOPE), New England Case Control Study (NECC), Nurses’ Health Study (NHS), and NHSII." . _:33d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of epithelial ovarian cancer in western Washington State, United States, run from Seattle with funding from the US National Cancer Institute, that enrolled women aged 35–74 diagnosed in 2002–2009 in a 13-county area, identified through the region's SEER cancer registry, together with controls from the same area identified by random-digit dialling, and collected in-person interviews and, from cases, tumour tissue."; "PMID:19127255", "PMID:19240718", "PMID:23065074", "PMID:36826816", "PMID:42365137"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1502; "interviewed cases and controls, 2002-2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3499637/"; rdfs:comment "Of the 2,025 eligible cases, 1,502 (74.2%) were interviewed and 1,108 had invasive disease and 394 had borderline tumors." . _:33d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1849; "interviewed cases and controls, 2002-2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3499637/"; rdfs:comment "Of the 2,025 eligible cases, 1,502 (74.2%) were interviewed and 1,108 had invasive disease and 394 had borderline tumors." . _:33d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOV"; . _:33d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DOVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14550; , ; "PMID:2951410"; "A nationwide Danish register of patients treated in psychiatric departments, with records collected systematically from 1938 and computerised from 1969, covering all admissions to psychiatric hospitals and psychiatric wards of general hospitals in Denmark, the Faroe Islands and Greenland and, since 1995, all psychiatric outpatient contacts, with dates of treatment, diagnoses, referral, place and mode of admission and municipality of residence. Kept within a psychiatric epidemiology research unit and fed since 1995 through the Danish National Patient Register, it is used for national health planning and psychiatric epidemiological research."; "DPCR", "DPCRR", "Danish Psychiatric Central Register", "PCRR", "Psychiatric Central Research Register"; rdfs:label "Danish Psychiatric Central Research Register"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14550 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14550; "mental disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21775352+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Psychiatric Central Research Register (PCRR) has continued since 1970 with electronic registration of patients treated at psychiatric departments in Denmark." . _:33da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:2951410"; "Excess mortality of bipolar and unipolar manic-depressive patients."; "PMID:2951410", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2951410+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To compare mortality in bipolar and unipolar manic-depressive patients, 2168 manic-depressive first admissions reported to the Danish Psychiatric Central Register were divided into a bipolar group (19%), i.e., patients with at least one admission for mania during an average observation period of six years, and a unipolar group." . _:33db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide Danish register of patients treated in psychiatric departments, with records collected systematically from 1938 and computerised from 1969, covering all admissions to psychiatric hospitals and psychiatric wards of general hospitals in Denmark, the Faroe Islands and Greenland and, since 1995, all psychiatric outpatient contacts, with dates of treatment, diagnoses, referral, place and mode of admission and municipality of residence. Kept within a psychiatric epidemiology research unit and fed since 1995 through the Danish National Patient Register, it is used for national health planning and psychiatric epidemiological research."; "PMID:21775352", "PMID:26604824", "PMID:9062767"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DPCR"; . _:33dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DPCRR"; . _:33de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCRR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14557, _:genid-371333f489424440b12a13b9d98ced822608-genid14559; , ; ; "PMID:27418945"; "A prospective Danish study that from September 2004 enrolled consecutive women aged 18 or older admitted for surgery because of a suspected pelvic mass to the Gynaecologic Clinic of Copenhagen University Hospital, Rigshospitalet, collecting their blood and tumour tissue with clinical data to identify factors that distinguish benign from malignant pelvic masses and predict the prognosis of ovarian cancer."; 1218; "DPMS", "Danish Pelvic Mass study", "PMS", "PVD", "Pelvic Mass Study"; rdfs:label "Danish Pelvic Mass Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14557 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14559 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14557; "pelvic mass"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3281903/fullTextXML"; rdfs:comment "The Pelvic Mass study is a Danish prospective study of ovarian cancer, covering biochemistry and molecular biology with the purpose of identifying prognostic factors as well as factors that differentiate benign and malignant conditions." . _:33e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14559; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3281903/fullTextXML"; rdfs:comment "The Pelvic Mass study is a Danish prospective study of ovarian cancer, covering biochemistry and molecular biology with the purpose of identifying prognostic factors as well as factors that differentiate benign and malignant conditions." . _:33e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27418945"; "High-risk HPV is not associated with epithelial ovarian cancer in a Caucasian population."; "PMID:27418945", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27418945+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Formalin-fixed, paraffin-imbedded tumor tissue samples from 198 cases consecutively included in the Danish Pelvic Mass Study were analyzed." . _:33e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective Danish study that from September 2004 enrolled consecutive women aged 18 or older admitted for surgery because of a suspected pelvic mass to the Gynaecologic Clinic of Copenhagen University Hospital, Rigshospitalet, collecting their blood and tumour tissue with clinical data to identify factors that distinguish benign from malignant pelvic masses and predict the prognosis of ovarian cancer."; "PMID:22363532", "PMID:27418945", "PMID:29696206"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1218; "patients with preoperative serum in the ongoing study (as of about 2012)"; "PMID:22835718"; rdfs:comment "Serum from 1218 patients in the prospective ongoing pelvic mass study was collected prior to diagnosis." . _:33e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DPMS"; . _:33e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMS"; . _:33e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PVD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14567; , ; ; ; "PMID:20437058"; "A colorectal cancer genomics project in Ontario, Canada (the ARCTIC Genome Project), hosted by Cancer Care Ontario and funded by Genome Canada through the Ontario Genomics Institute and other agencies, whose case-control sample consists of participants of the Ontario Familial Colorectal Cancer Registry: people aged 20–74 with colorectal cancer diagnosed in 1997–2000 and identified through the population-based Ontario Cancer Registry, and population controls randomly selected and frequency-matched to them by sex and five-year age group. They were genotyped genome-wide to find common variants associated with colorectal cancer, and the sample has since been used for risk-prediction and DNA methylation studies."; 1257; 1336; "ARCTIC", "ARCTIC Genome Project", "Assessment of Risk in Colorectal Tumors In Canada", "Assessment of Risk in Colorectal Tumors in Canada", "Assessment of Risk of Colorectal Tumors in Canada", "Assessment of Risk of Colorectal Tumours in Canada"; rdfs:label "Assessment of Risk for Colorectal Tumors in Canada"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14567 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14567; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2885303/fullTextXML"; rdfs:comment "data from the ARCTIC study in Ontario, which included 1,200 CRC cases and a similar number of cancer-free population-based controls." . _:33e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2885303/fullTextXML"; rdfs:comment "Briefly, the ARCTIC study involved 1,257 CRC cases and 1,336 matched community controls from the Ontario Familial Colorectal Cancer Registry." . _:33e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20437058"; "The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer."; "PMID:20437058", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2885303/fullTextXML"; rdfs:comment "Multivariate modeling was carried out using available case control data and genotyping from the Assessment of Risk for Colorectal Tumors in Canada (ARCTIC) Study." . _:33ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A colorectal cancer genomics project in Ontario, Canada (the ARCTIC Genome Project), hosted by Cancer Care Ontario and funded by Genome Canada through the Ontario Genomics Institute and other agencies, whose case-control sample consists of participants of the Ontario Familial Colorectal Cancer Registry: people aged 20–74 with colorectal cancer diagnosed in 1997–2000 and identified through the population-based Ontario Cancer Registry, and population controls randomly selected and frequency-matched to them by sex and five-year age group. They were genotyped genome-wide to find common variants associated with colorectal cancer, and the sample has since been used for risk-prediction and DNA methylation studies."; "PMID:17618283", "PMID:20437058", "PMID:27142380"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1257; "colorectal cancer cases and matched controls from the Ontario Familial Colorectal Cancer Registry"; "PMID:20437058"; rdfs:comment "Briefly, the ARCTIC study involved 1,257 CRC cases and 1,336 matched community controls from the Ontario Familial Colorectal Cancer Registry." . _:33ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1336; "colorectal cancer cases and matched controls from the Ontario Familial Colorectal Cancer Registry"; "PMID:20437058"; rdfs:comment "Briefly, the ARCTIC study involved 1,257 CRC cases and 1,336 matched community controls from the Ontario Familial Colorectal Cancer Registry." . _:33ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARCTIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14575; , ; ; "PMID:38672660"; "A web-based multicentre breast cancer registry developed at the University of Nebraska Medical Center's Eppley Cancer Center in Omaha, Nebraska, United States, and maintained by the Fred & Pamela Buffett Cancer Center as part of its integrated Cancer Repository for Cancer Research (iCaRe2), into which participating cancer centres in the US Midwest enrol breast cancer patients, breast cancer survivors and women at increased risk of breast cancer. Under common protocols it collects questionnaire data on demographic, medical, family, lifestyle, dietary and environmental factors, clinical and follow-up data and biospecimens for research on breast cancer diagnosis, prevention, treatment and survivorship."; 4945; "BCCR"; rdfs:label "Breast Cancer Collaborative Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14575; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21918596+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Currently, seven cancer institutions are participating in the BCCR that contains data on almost 900 subjects (BC patients and survivors, as well as individuals at high risk of getting BC)." . _:33ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11048743/fullTextXML"; rdfs:comment "The US-based BC-positive cases (n = 321) were sourced from the integrated Cancer Repository for Cancer Research (iCaRe2) and the Breast Cancer Collaborative Registry (BCCR), situated in the Midwestern United States [19]." . _:33f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38672660"; "Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation."; "PMID:38672660", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11048743/fullTextXML"; rdfs:comment "The US-based BC-positive cases (n = 321) were sourced from the integrated Cancer Repository for Cancer Research (iCaRe2) and the Breast Cancer Collaborative Registry (BCCR), situated in the Midwestern United States [19]." . _:33f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A web-based multicentre breast cancer registry developed at the University of Nebraska Medical Center's Eppley Cancer Center in Omaha, Nebraska, United States, and maintained by the Fred & Pamela Buffett Cancer Center as part of its integrated Cancer Repository for Cancer Research (iCaRe2), into which participating cancer centres in the US Midwest enrol breast cancer patients, breast cancer survivors and women at increased risk of breast cancer. Under common protocols it collects questionnaire data on demographic, medical, family, lifestyle, dietary and environmental factors, clinical and follow-up data and biospecimens for research on breast cancer diagnosis, prevention, treatment and survivorship."; "PMID:21918596", "PMID:31303884", "PMID:37454130"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4945; "participants enrolled under the BCCR protocol NCT00666731, 2006-2016 (actual enrolment)"; "https://clinicaltrials.gov/api/v2/studies/NCT00666731?fields=EnrollmentInfo,BriefTitle"; rdfs:comment "\"enrollmentInfo\":{\"count\":4945,\"type\":\"ACTUAL\"}" . _:33f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14582; , ; ; "PMID:38859703"; "A cohort of adults of European ancestry with bipolar disorder (bipolar I or II disorder, schizoaffective disorder of bipolar type or bipolar disorder not otherwise specified) recruited from across the United Kingdom by the Bipolar Disorder Research Network, an ongoing research programme run from Cardiff and Worcester, systematically through NHS community mental health teams and lithium clinics and non-systematically through media advertising and patient charities such as Bipolar UK. Participants are interviewed by trained psychologists and psychiatrists with the Schedules for Clinical Assessment in Neuropsychiatry and their case notes reviewed, to study the genetic and environmental causes of bipolar and related mood disorders."; 4219; "BDRN", "UK Bipolar Disorder Research Network"; rdfs:label "Bipolar Disorder Research Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14582 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14582; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11408248/fullTextXML"; rdfs:comment "Cases from the UK were obtained from the Bipolar Disorder Research Network (BDRN) study, an ongoing program of research into the genetic and environmental causes of BD and related mood disorders." . _:33f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12092478/fullTextXML"; rdfs:comment "Participants were recruited into the research programme from across the UK using both systematic and non-systematic recruitment methods." . _:33f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38859703"; "Association of Occupational Dysfunction and Hospital Admissions With Different Polygenic Profiles in Bipolar Disorder."; "PMID:38859703", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38859703+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Replication analyses of hospital admissions were conducted with data from the Bipolar Disorder Research Network cohort (N=4,219)." . _:33f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adults of European ancestry with bipolar disorder (bipolar I or II disorder, schizoaffective disorder of bipolar type or bipolar disorder not otherwise specified) recruited from across the United Kingdom by the Bipolar Disorder Research Network, an ongoing research programme run from Cardiff and Worcester, systematically through NHS community mental health teams and lithium clinics and non-systematically through media advertising and patient charities such as Bipolar UK. Participants are interviewed by trained psychologists and psychiatrists with the Schedules for Clinical Assessment in Neuropsychiatry and their case notes reviewed, to study the genetic and environmental causes of bipolar and related mood disorders."; "PMID:34002096", "PMID:38355785", "PMID:39537796"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4219; "BDRN participants in a replication analysis (genotyped cohort with hospital-admission data)"; "PMID:38859703"; rdfs:comment "Replication analyses of hospital admissions were conducted with data from the Bipolar Disorder Research Network cohort (N=4,219)." . _:33f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BDRN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14589; , ; "PMID:30482948"; "A longitudinal family high-risk study of the development of substance use disorder, run in Pittsburgh, Pennsylvania, United States, by the Center for Education and Drug Abuse Research of the University of Pittsburgh, a Center of Excellence funded by the National Institute on Drug Abuse and completed in 2015, which recruited nuclear families of a father with or without a lifetime substance use disorder (or with another psychiatric disorder), his partner and their biological child aged 10–12 (at first sons only, daughters from its second funding cycle) and followed the index children to age 30; index children and their siblings were genotyped under the Genes, Environment and Development Initiative."; "The acronym CEDAR also denotes Correlated Expression and Disease Association Research (COHO:0000432); this term is Center for Education and Drug Abuse Research."@en; "CEDAR", "CEDAR_Penn", "Center for Education and Drug Abuse research"; rdfs:label "Center for Education and Drug Abuse Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:33fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14589; "substance use disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21320228+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The family high-risk design was used to recruit proband fathers with and without substance use disorder and track their sons longitudinally from late childhood to adulthood." . _:33fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21320228+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The families were recruited under the aegis of the Center for Education and Drug Abuse Research in Pittsburgh, Pennsylvania." . _:33fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30482948"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6430207/fullTextXML"; rdfs:comment "Funding support for the Center for Education and Drug Abuse Research (CEDAR) (dbGAP accession number: phs001649.v1.p1 was provided by the National Institute on Drug Abuse (P50 DA005605)." . _:33fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal family high-risk study of the development of substance use disorder, run in Pittsburgh, Pennsylvania, United States, by the Center for Education and Drug Abuse Research of the University of Pittsburgh, a Center of Excellence funded by the National Institute on Drug Abuse and completed in 2015, which recruited nuclear families of a father with or without a lifetime substance use disorder (or with another psychiatric disorder), his partner and their biological child aged 10–12 (at first sons only, daughters from its second funding cycle) and followed the index children to age 30; index children and their siblings were genotyped under the Genes, Environment and Development Initiative."; "PMID:21320228", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001649.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:33fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEDAR"; . _:33ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEDAR_Penn"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14596; , , , , , , , , , , , , , , , , , , , ; "PMID:26806518"; "An international consortium of lithium researchers, established in 2008 on the initiative of the International Group for the Study of Lithium-Treated Patients (IGSLI) and the Unit on the Genetic Basis of Mood and Anxiety Disorders of the US National Institute of Mental Health, whose participating sites in Europe, America, Asia and Australia pool genotyped patients with bipolar disorder treated with lithium, their long-term response rated retrospectively on the Alda scale, for genome-wide studies of the genetic basis of lithium response."; 2563; "ConLi+Gen", "ConLiGen", "Consortium of Lithium Genetics", "Consortium on Lithium Genetics", "International Consortium of Lithium Genetics"; rdfs:label "International Consortium on Lithium Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14596 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14596; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11041653/fullTextXML"; rdfs:comment "The discovery analysis consisted of ConLi+Gen data obtained from 2,367 bipolar patients of European ancestry who had undergone lithium treatment for at least six months." . _:34012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3686769/fullTextXML"; rdfs:comment "The Japanese Collaborative Group on the Genetics of Lithium Response in Bipolar Disorder (Japan)" . _:34022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3686769/fullTextXML"; rdfs:comment "Academia Sinica, Taipei (Taiwan)" . _:34032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11041653/fullTextXML"; rdfs:comment "In the current study, we analyzed the genome-wide genotype and clinical data of 2367 lithium-treated bipolar patients of European ancestry collected by 22 participating sites in 13 countries, including Australia (n = 122), Austria (n = 43), Czech Republic (n = 45), France (n = 210), Germany (n = 218), Italy (n = 255), Poland (n = 97), Romania (n = 152), Spain (n = 74), Sweden (n = 304), Switzerland (n = 57), Canada (n = 353) and the USA (n = 437)" . _:34042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26806518"; "Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study."; "PMID:26806518", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4814312/unicode"; rdfs:comment "Here we report the results of a genome-wide association study of lithium response in 2,563 patients collected by 22 participating sites from the International Consortium on Lithium Genetics (ConLiGen); the largest attempted so far." . _:34052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of lithium researchers, established in 2008 on the initiative of the International Group for the Study of Lithium-Treated Patients (IGSLI) and the Unit on the Genetic Basis of Mood and Anxiety Disorders of the US National Institute of Mental Health, whose participating sites in Europe, America, Asia and Australia pool genotyped patients with bipolar disorder treated with lithium, their long-term response rated retrospectively on the Alda scale, for genome-wide studies of the genetic basis of lithium response."; "PMID:20453537", "PMID:26806518", "PMID:37433967"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2563; "lithium-treated bipolar patients from 22 sites in the 2016 GWAS of lithium response"; "PMID:26806518"; rdfs:comment "Here we report the results of a genome-wide association study of lithium response in 2,563 patients collected by 22 participating sites from the International Consortium on Lithium Genetics (ConLiGen); the largest attempted so far." . _:34072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ConLi+Gen"; . _:34082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ConLiGen"; . a owl:NamedIndividual, ; ; , ; ; "PMID:33623038"; "A Norwegian multipurpose collection of health data and blood samples pooled from ten regional population-based health surveys conducted in 1994–2003, among them the fourth and fifth surveys of the Tromsø Study, the second Nord-Trøndelag Health Study (HUNT II), the Hordaland Health Study, the Oslo Health Study, the Oppland and Hedmark Health Study and the Troms and Finnmark Health Study. Participants, invited through the Population Registry of Norway, answered about 50 common core questions, had standardised examinations and gave non-fasting blood samples, and consented to linkage with national health registries; the collaboration is run by the Norwegian Institute of Public Health with the universities of Bergen, Oslo, Tromsø and Trondheim."; 173236; "CONOR", "COhort of NORway", "Cohort Norway", "Cohort of Adults in Norway", "General Cohort of Adults in Norway"; rdfs:label "Cohort of Norway"@en . _:34092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://husk-en.w.uib.no/"; rdfs:comment "The Hordaland Health Studies are part of the national research collaboration CONOR (COhort of NORway)" . _:340a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2409050/fullTextXML"; rdfs:comment "The CONOR database has several strengths: it is population based including populations from various parts of Norway, both rural and urban." . _:340b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "The authors wish to acknowledge the services of CONOR, the contributing research centres delivering data to CONOR, and all the study participants." . _:340c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Norwegian multipurpose collection of health data and blood samples pooled from ten regional population-based health surveys conducted in 1994–2003, among them the fourth and fifth surveys of the Tromsø Study, the second Nord-Trøndelag Health Study (HUNT II), the Hordaland Health Study, the Oslo Health Study, the Oppland and Hedmark Health Study and the Troms and Finnmark Health Study. Participants, invited through the Population Registry of Norway, answered about 50 common core questions, had standardised examinations and gave non-fasting blood samples, and consented to linkage with national health registries; the collaboration is run by the Norwegian Institute of Public Health with the universities of Bergen, Oslo, Tromsø and Trondheim."; "PMID:17984119"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:340d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 173236; "individuals who took part in the ten CONOR surveys 1994-2003"; "PMID:17984119"; rdfs:comment "Thus, the total number of individuals in the CONOR cohort is 173 236." . _:340e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONOR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14612, _:genid-371333f489424440b12a13b9d98ced822608-genid14614; , ; ; "PMID:34320204"; "An Italian consortium of cancer genetics services and research groups studying hereditary breast cancer, among them the Fondazione IRCCS Istituto Nazionale dei Tumori and the Istituto Europeo di Oncologia in Milan and centres in Aviano, Bari, Florence, Genoa, Rome and Varese, with genetic testing by the Cogentech Cancer Genetic Test Laboratory in Milan. It contributes carriers of BRCA1 and BRCA2 pathogenic variants, most of them ascertained through cancer genetics clinics, as one study to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) for research on genetic modifiers of cancer risk in carriers."; 1482; "CONSIT", "CONSIT TEAM", "CONSIT_TEAM", "Consorzio Italiano Tumori Ereditari Alla Mammella"; rdfs:label "CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14612 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14614 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:340f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14612; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "The majority of mutation carriers were recruited through cancer genetics clinics and enroled into national or regional studies." . _:34102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14614; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/fullTextXML"; rdfs:comment "The majority of mutation carriers were recruited through cancer genetics clinics and enroled into national or regional studies." . _:34112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8755508/supplementaryFiles"; rdfs:comment "CONSIT TEAM Italy 91.3" . _:34122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34320204"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8755508/fullTextXML"; rdfs:comment "Acknowledgements: All the families and clinicians who contribute to the studies; members and participants in the New York site of the Breast Cancer Family Registry; members and participants in the Ontario Familial Breast Cancer Registry; all the individuals and the researchers who took part in CONSIT TEAM (Consorzio Italiano Tumori Ereditari Alla Mammella) and the personnel of the Cogentech Cancer Genetic Test Laboratory, Milan, Italy." . _:34132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Italian consortium of cancer genetics services and research groups studying hereditary breast cancer, among them the Fondazione IRCCS Istituto Nazionale dei Tumori and the Istituto Europeo di Oncologia in Milan and centres in Aviano, Bari, Florence, Genoa, Rome and Varese, with genetic testing by the Cogentech Cancer Genetic Test Laboratory in Milan. It contributes carriers of BRCA1 and BRCA2 pathogenic variants, most of them ascertained through cancer genetics clinics, as one study to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) for research on genetic modifiers of cancer risk in carriers."; "PMID:28346442", "PMID:28448241", "PMID:32665703", "PMID:33597508", "PMID:34320204"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1482; "BRCA1 and BRCA2 carriers genotyped (iCOGS and OncoArray) and contributed to CIMBA, as used in a 2025 ovarian cancer analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf"; rdfs:comment "CONSIT TEAM Italy 324 122 408 127 171 17 277 36 1180 302 1482" . _:34152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONSIT"; . _:34162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONSIT TEAM"; . _:34172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONSIT_TEAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14623, _:genid-371333f489424440b12a13b9d98ced822608-genid14625, _:genid-371333f489424440b12a13b9d98ced822608-genid14627; , ; ; "PMID:23349703"; "A cohort of male heavy smokers (at least 20 pack-years) aged 50–75, participants of the Dutch-Belgian NELSON lung cancer screening trial recruited by the University Medical Centers of Groningen and Utrecht in the Netherlands, with spirometry, low-dose chest CT and blood DNA and RNA. It was assembled and genotyped genome-wide as the discovery cohort of the European Union FP7 project COPACETIC, begun in 2008 under the coordination of UMC Utrecht, to find genetic determinants of susceptibility to COPD and emphysema in smokers, and its lung function was measured again after about three years."; 3784; "COPACETIC", "COPACETIC cohort", "COPD Pathology: Addressing Critical gaps, Early Treatment and Innovative Concepts", "COPD Pathology: Adressing Critical gaps, Early Treatment & diagnosis and Innovative Concepts"; rdfs:label "COPD Pathology: Addressing Critical gaps, Early Treatment & diagnosis and Innovative Concepts"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14623 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14625 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14627 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14623; "emphysema"; "https://cordis.europa.eu/project/id/201379/reporting"; rdfs:comment "COPACETIC aims to unravel the genetic determinants of the susceptibility to develop chronic obstructive pulmonary disease (COPD) in (ex-)smokers at high risk." . _:34192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14625; "chronic obstructive pulmonary disease"; "https://cordis.europa.eu/project/id/201379/reporting"; rdfs:comment "COPACETIC aims to unravel the genetic determinants of the susceptibility to develop chronic obstructive pulmonary disease (COPD) in (ex-)smokers at high risk." . _:341a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14627; "heavy smoking (at least 20 pack-years)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3548843/fullTextXML"; rdfs:comment "First, COPACETIC only recruited heavy smokers and we could therefore not assess the effects of the 15q24/25 locus in subjects being exposed to less nicotine." . _:341b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3548843/fullTextXML"; rdfs:comment "The COPACETIC cohort included 1,226 Dutch participants from the NELSON lung cancer screening trial recruited by the University Medical Centers of Groningen and Utrecht" . _:341c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3548843/fullTextXML"; rdfs:comment "The COPACETIC cohort included 1,226 Dutch participants from the NELSON lung cancer screening trial recruited by the University Medical Centers of Groningen and Utrecht" . _:341d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23349703"; "Variants in the 15q24/25 locus associate with lung function decline in active smokers."; "PMID:23349703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3548843/fullTextXML"; rdfs:comment "The rs1051730 and rs8034191 variants were genotyped in a population-based cohort of 1,226 heavy smokers (COPACETIC) and in an independent cohort of 883 heavy smokers, of which 653 with COPD of varying severity (LEUVEN)." . _:341e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of male heavy smokers (at least 20 pack-years) aged 50–75, participants of the Dutch-Belgian NELSON lung cancer screening trial recruited by the University Medical Centers of Groningen and Utrecht in the Netherlands, with spirometry, low-dose chest CT and blood DNA and RNA. It was assembled and genotyped genome-wide as the discovery cohort of the European Union FP7 project COPACETIC, begun in 2008 under the coordination of UMC Utrecht, to find genetic determinants of susceptibility to COPD and emphysema in smokers, and its lung function was measured again after about three years."; "PMID:23349703", "https://cordis.europa.eu/project/id/201379/reporting"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:341f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3784; "NELSON participants in the COPACETIC discovery pulmonary function database (UMC Utrecht and Groningen), 2011"; "https://cordis.europa.eu/project/id/201379/reporting"; rdfs:comment "After closure, the pulmonary function databases of the UMCU / UMCG were merged into one single pulmonary function database, which contains 6136 pulmonary function records and obtained in 3784 subjects." . _:34202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPACETIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14635, _:genid-371333f489424440b12a13b9d98ced822608-genid14637; , ; ; "PMID:32665703"; "A Danish study at Rigshospitalet, Copenhagen University Hospital, that recruits and genetically counsels carriers of BRCA1 and BRCA2 pathogenic variants ascertained through cancer genetics clinics, under approval of the research ethics committees of the Capital Region of Denmark, and contributes them as one study to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) for research on genetic modifiers of cancer risk in carriers."; "The acronym CBCS also denotes Canadian Breast Cancer Study (COHO:0000899) and Carolina Breast Cancer Study (COHO:0001210); this term is Copenhagen Breast Cancer Study."@en; 463; "CBCS", "CopBCS"; rdfs:label "Copenhagen Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14635 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14637 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14635; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32665703+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available." . _:34222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14637; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32665703+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available." . _:34232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8755508/supplementaryFiles"; rdfs:comment "CBCS Denmark 100.0" . _:34242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32665703"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/supplementaryFiles"; rdfs:comment "Copenhagen Breast Cancer Study (CBCS) - De Videnskabsetiske Komiteer I Region Hovedsladen" . _:34252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish study at Rigshospitalet, Copenhagen University Hospital, that recruits and genetically counsels carriers of BRCA1 and BRCA2 pathogenic variants ascertained through cancer genetics clinics, under approval of the research ethics committees of the Capital Region of Denmark, and contributes them as one study to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) for research on genetic modifiers of cancer risk in carriers."; "PMID:28448241", "PMID:32665703", "PMID:34320204", "PMID:36203093"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 463; "BRCA1 and BRCA2 carriers genotyped (iCOGS and OncoArray) and contributed to CIMBA, as used in a 2025 ovarian cancer analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf"; rdfs:comment "CBCS Denmark 106 26 152 29 21 2 118 9 397 66 463" . _:34272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CBCS"; . _:34282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CopBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14645; , ; ; "PMID:28604730"; "A hospital-based lung cancer case–control study in Copenhagen, Denmark, whose cases are patients diagnosed histologically with treatable lung cancer from 2012 onwards (recruited 2012–2013) and whose controls are participants of the Copenhagen General Population Study without lung cancer; it was genotyped in the lung cancer OncoArray project of the International Lung Cancer Consortium for studies of genetic susceptibility to lung cancer."; 657; 1460; 2117; "COPENHAGEN", "Copenhagen", "Copenhagen lung cancer study", "CopenhagenLCS"; rdfs:label "Copenhagen Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14645 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14645; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Cases were diagnosed histologically from 2012 and onwards with treatable lung cancer." . _:342a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Copenhagen Copenhagen lung cancer study Copenhagen S. E. Bojesen Denmark Hosp.CC 2004 (controls) 2012-2013 (cases)" . _:342b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Copenhagen study. Cases were diagnosed histologically from 2012 and onwards with treatable lung cancer. Controls were participants of the Copenhagen General Population Study without lung cancer." . _:342c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based lung cancer case–control study in Copenhagen, Denmark, whose cases are patients diagnosed histologically with treatable lung cancer from 2012 onwards (recruited 2012–2013) and whose controls are participants of the Copenhagen General Population Study without lung cancer; it was genotyped in the lung cancer OncoArray project of the International Lung Cancer Consortium for studies of genetic susceptibility to lung cancer."; "PMID:28604730", "PMID:32393777"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:342d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 657; "cases and controls submitted for OncoArray genotyping (2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Copenhagen Copenhagen lung cancer study Copenhagen S. E. Bojesen Denmark Hosp.CC 2004 (controls) 2012-2013 (cases) 657 1460 2117 22441734" . _:342e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1460; "cases and controls submitted for OncoArray genotyping (2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Copenhagen Copenhagen lung cancer study Copenhagen S. E. Bojesen Denmark Hosp.CC 2004 (controls) 2012-2013 (cases) 657 1460 2117 22441734" . _:342f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2117; "cases and controls submitted for OncoArray genotyping (2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Copenhagen Copenhagen lung cancer study Copenhagen S. E. Bojesen Denmark Hosp.CC 2004 (controls) 2012-2013 (cases) 657 1460 2117 22441734" . _:34302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COPENHAGEN"; . _:34312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Copenhagen"; . _:34322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CopenhagenLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14656; , , ; ; "PMID:34237774"; "A South Korean case–control study of host genetic factors in COVID-19, contributed to the COVID-19 Host Genetics Initiative, that compares patients with COVID-19, among them hospitalised patients, with controls, all of Korean ancestry, under the ethics approval of Kangbuk Samsung Medical Center, Seoul National University Bundang Hospital and Seoul National University Hospital; its data collection was coordinated with the Kangbuk Samsung Cohort Study and its participants were genotyped on the Axiom Asia Precision Medicine Research Array."; 108; 6500; "Corea", "Corea study", "Corea-COVID-19", "Genetics of COVID-related Manifestation"; rdfs:label "Corea (Genetics of COVID-related Manifestation)"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14656 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14656; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries." . _:34342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "Corea (Genetics of COVID-related Manifestation) Korea" . _:34352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34237774"; "Mapping the human genetic architecture of COVID-19."; "PMID:34237774", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx"; rdfs:comment "In the Corea study, all participants are Korean." . _:34362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A South Korean case–control study of host genetic factors in COVID-19, contributed to the COVID-19 Host Genetics Initiative, that compares patients with COVID-19, among them hospitalised patients, with controls, all of Korean ancestry, under the ethics approval of Kangbuk Samsung Medical Center, Seoul National University Bundang Hospital and Seoul National University Hospital; its data collection was coordinated with the Kangbuk Samsung Cohort Study and its participants were genotyped on the Axiom Asia Precision Medicine Research Array."; "PMID:34237774", "PMID:34379666"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 108; "COVID-19 cases (reported infection) and controls contributed to the HGI release 5 meta-analyses"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx" . _:34382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6500; "COVID-19 cases (reported infection) and controls contributed to the HGI release 5 meta-analyses"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM6_ESM.xlsx" . _:34392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Corea"; . _:343a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Corea-COVID-19"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14665, _:genid-371333f489424440b12a13b9d98ced822608-genid14667; , ; "PMID:20972440"; "A UK family study that since 1999 has recruited, through Clinical Genetics Departments throughout the United Kingdom, members of families with colorectal tumours who developed colorectal cancer by age 80 or significant colorectal adenomas (three or more, with severe dysplasia or villous histology, or presenting before age 45; adenoma-only cases having a first- or second-degree relative with colorectal cancer), with their unaffected spouses or partners as controls, to identify genes that predispose to colorectal tumours. Its cases and controls formed the first UK genome-wide association study of colorectal cancer (UK1) and later sample sets."; 1476; 1666; "CORGI", "CORGI Consortium", "CORGI study", "COloRectal Gene Identification consortium", "COloRectal tumour Gene Identification", "CoRGI", "Colorectal Tumour Gene Identification study"; rdfs:label "COloRectal tumour Gene Identification study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14665 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14667 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:343b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14665; "colorectal adenoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5098601/fullTextXML"; rdfs:comment "The UK4/CORGI2BCD samples comprised additional CRC cases and unaffected spouse/partner controls from the CORGI study collected since the UK1/CORGI samples." . _:343c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14667; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5098601/fullTextXML"; rdfs:comment "The UK4/CORGI2BCD samples comprised additional CRC cases and unaffected spouse/partner controls from the CORGI study collected since the UK1/CORGI samples." . _:343d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3785128/fullTextXML"; rdfs:comment "The study has recruited through Clinical Genetics Departments from throughout the United Kingdom since 1999 and has to date enrolled 1,698 families." . _:343e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20972440"; "Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33."; "PMID:20972440", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5098601/fullTextXML"; rdfs:comment "We therefore directly proceeded to a combined analysis of the three GWA studies, comprising UK1/CORGI and Scotland1/COGS in addition to VQ58 (Supplementary Table 1)." . _:343f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK family study that since 1999 has recruited, through Clinical Genetics Departments throughout the United Kingdom, members of families with colorectal tumours who developed colorectal cancer by age 80 or significant colorectal adenomas (three or more, with severe dysplasia or villous histology, or presenting before age 45; adenoma-only cases having a first- or second-degree relative with colorectal cancer), with their unaffected spouses or partners as controls, to identify genes that predispose to colorectal tumours. Its cases and controls formed the first UK genome-wide association study of colorectal cancer (UK1) and later sample sets."; "PMID:17618284", "PMID:20972440", "PMID:23263490", "PMID:31089142"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1476; "CORGI cases (colorectal cancer or adenomas) and spouse/partner controls used in a 2013 study"; "PMID:23263490"; rdfs:comment "CORGI cases comprised 1,476 individuals from the COloRectal tumour Gene Identification study 30." . _:34412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1666; "CORGI cases (colorectal cancer or adenomas) and spouse/partner controls used in a 2013 study"; "PMID:23263490"; rdfs:comment "CORGI cases comprised 1,476 individuals from the COloRectal tumour Gene Identification study 30." . _:34422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CORGI"; . _:34432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CoRGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14676; , , ; "PGS000770", "PMID:24064335"; "A genetic study of osteoporosis-related traits in unrelated Han Chinese adults recruited in and around the cities of Xi'an and Changsha, China, whose bone mineral density was measured by dual-energy X-ray absorptiometry, set up to identify genes underlying osteoporosis."; 1627; "COS", "China osteoporosis study", "Connecticut Ovary Study"; ; rdfs:label "China Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14676 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14676; "osteoporosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4039436/"; rdfs:comment "Three studies(OOS, KCOS and COS) were originally designed to identify potential genes underlying osteoporosis." . _:34452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:34462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24064335"; "Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity."; "PMID:24064335", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3888264/"; rdfs:comment "The three in-house samples included those from the Omaha Osteoporosis Study (OOS, with 998 unrelated Caucasian subjects), Kansas-City Osteoporosis Study (KCOS, with 2283 unrelated Caucasian subjects) and China Osteoporosis Study (COS, with 1624 unrelated Chinese Han subjects)." . _:34472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of osteoporosis-related traits in unrelated Han Chinese adults recruited in and around the cities of Xi'an and Changsha, China, whose bone mineral density was measured by dual-energy X-ray absorptiometry, set up to identify genes underlying osteoporosis."; "PMID:21789208", "PMID:24879436", "PMID:30988369"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1627; "initial Chinese Han study sample; not the later analysis subsets"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3137628/"; rdfs:comment "The sample for the initial genome-wide CNV analysis consisted of 1,627 unrelated Chinese Han adults including 825 women and 802 men." . _:34492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14683; , ; ; "PMID:23535732"; "A hospital-based case-control study of prostate cancer in Copenhagen, Denmark, whose cases are unselected men with pathologically confirmed, mainly clinically detected prostate cancer recruited at two Copenhagen University Hospital sites, Herlev Hospital in 2008–2011 (Copenhagen Prostate Cancer Study 1, CPCS1) and Rigshospitalet in 2010–2011 (Copenhagen Prostate Cancer Study 2, CPCS2), and whose controls are prostate-cancer-free men from the Copenhagen general population who took part in the Copenhagen City Heart Study or the Copenhagen General Population Study. Participants are white men of Danish descent who completed questionnaires and gave blood samples for DNA."; "CPCS"; rdfs:label "Copenhagen Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14683 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:344a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14683; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf"; rdfs:comment "The Copenhagen Prostate Cancer Study 1 included 872 unselected patients recruited with prostate cancer between 2008-2011 from Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark." . _:344b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf"; rdfs:comment "The Copenhagen Prostate Cancer Study 2 included 306 unselected patients with prostate cancer recruited in 2010-2011 from Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark." . _:344c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23535732"; "Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array."; "PMID:23535732", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf"; rdfs:comment "The Copenhagen Prostate Cancer Study 1 included 872 unselected patients recruited with prostate cancer between 2008-2011 from Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark." . _:344d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of prostate cancer in Copenhagen, Denmark, whose cases are unselected men with pathologically confirmed, mainly clinically detected prostate cancer recruited at two Copenhagen University Hospital sites, Herlev Hospital in 2008–2011 (Copenhagen Prostate Cancer Study 1, CPCS1) and Rigshospitalet in 2010–2011 (Copenhagen Prostate Cancer Study 2, CPCS2), and whose controls are prostate-cancer-free men from the Copenhagen general population who took part in the Copenhagen City Heart Study or the Copenhagen General Population Study. Participants are white men of Danish descent who completed questionnaires and gave blood samples for DNA."; "PMID:29321194", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:344e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14689; , ; ; "PMID:37239075"; "A longitudinal clinical research database of military health care beneficiaries who consent to enrolment, typically at prostate biopsy for suspected prostate cancer, at United States military treatment facilities (Walter Reed and other Army, Navy and Air Force medical centres, now with one civilian centre), run by the Department of Defense Center for Prostate Disease Research of the Uniformed Services University of the Health Sciences, which records their demographic, clinical, pathology, treatment, quality-of-life and outcome data. It began as prospective data collection at Walter Reed Army Medical Center in January 1994, with retrospective data back to 1980, and is linked to a biospecimen bank of blood and tissue collected at Walter Reed since 1993."; 30000; "CPDR", "CPDR multicenter national clinical database", "Center for Prostate Disease Research", "Center for Prostate Disease Research Multi-center National Database", "Center for Prostate Disease Research multicenter national database", "Triservice Multicenter Prostate Cancer Longitudinal Database"; rdfs:label "Center for Prostate Disease Research Multicenter National Database"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14689 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:344f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14689; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Patients enrolled at Walter Reed National Military Medical Center with biopsy-confirmed prostate cancer who underwent radical prostatectomy" . _:34502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Retrospective cohort study; Greater Washington DC Metro Area, USA Patients enrolled at Walter Reed National Military Medical Center with biopsy-confirmed prostate cancer who underwent radical prostatectomy" . _:34512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37239075"; "Association of TP53 Single Nucleotide Polymorphisms with Prostate Cancer in a Racially Diverse Cohort of Men."; "PMID:37239075", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10216554/fullTextXML"; rdfs:comment "Patients were only included if they consented to enrollment in the CPDR biospecimen databank and multicenter national clinical database." . _:34522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal clinical research database of military health care beneficiaries who consent to enrolment, typically at prostate biopsy for suspected prostate cancer, at United States military treatment facilities (Walter Reed and other Army, Navy and Air Force medical centres, now with one civilian centre), run by the Department of Defense Center for Prostate Disease Research of the Uniformed Services University of the Health Sciences, which records their demographic, clinical, pathology, treatment, quality-of-life and outcome data. It began as prospective data collection at Walter Reed Army Medical Center in January 1994, with retrospective data back to 1980, and is linked to a biospecimen bank of blood and tissue collected at Walter Reed since 1993."; "PMID:35616266", "PMID:35638719", "PMID:36743401", "PMID:37239075", "https://medschool.usuhs.edu/sur/research/center-for-prostate-disease-research", "https://www.cancernetwork.com/view/department-defense-center-prostate-disease-research"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30000; "military patients with prostate cancer in the database (rounded, as the website states it)"; "https://medschool.usuhs.edu/sur/research/center-for-prostate-disease-research"; rdfs:comment "30K military patients with prostate cancer integrating 5 DoD and 1 civilian medical centers in Multi-Center National Database" . _:34542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14696; , ; "PMID:27565998"; "A cohort of women having screening mammography at the Breast Health Center of California Pacific Medical Center in San Francisco, California, United States, an imaging facility of the San Francisco Mammography Registry (part of the NCI Breast Cancer Surveillance Consortium), who completed the registry's demographic and risk-factor questionnaire and, from 2004 to 2011, were asked to give blood for research and consent to genotyping; breast cancers are ascertained by linkage to the California Cancer Registry."; 19276; "CPMC Research Institute Cohort", "CPMC Research Institute cohort", "CPMCBHC", "California Pacific Medical Center Breast Health Cohort", "California Pacific Medical Center Research Breast Health Cohort", "California Pacific Medical Center Research Institute cohort"; rdfs:label "California Pacific Medical Center Research Institute Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14696 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14696; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4053164/fullTextXML"; rdfs:comment "The California Pacific Medical Center Breast Health Cohort is linked to the San Francisco Mammography Registry, part of the NCI Breast Cancer Surveillance Consortium that collects demographic and risk factor data on women receiving mammography." . _:34562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4053164/fullTextXML"; rdfs:comment "The California Pacific Medical Center Breast Health Cohort is linked to the San Francisco Mammography Registry, part of the NCI Breast Cancer Surveillance Consortium that collects demographic and risk factor data on women receiving mammography." . _:34572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27565998"; "Breast cancer risk prediction using a clinical risk model and polygenic risk score."; "PMID:27565998", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5033764/"; rdfs:comment "We performed a nested case-control study within the California Pacific Medical Center (CPMC) Research Institute Cohort, which participates in the San Francisco Mammography Registry (SFMR)." . _:34582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women having screening mammography at the Breast Health Center of California Pacific Medical Center in San Francisco, California, United States, an imaging facility of the San Francisco Mammography Registry (part of the NCI Breast Cancer Surveillance Consortium), who completed the registry's demographic and risk-factor questionnaire and, from 2004 to 2011, were asked to give blood for research and consent to genotyping; breast cancers are ascertained by linkage to the California Cancer Registry."; "PMID:23668689", "PMID:27565998", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3132306/unicode", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5669824/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19276; "women who gave blood samples 2004-2011"; "PMID:27565998"; rdfs:comment "Samples were obtained from 19,276 women." . _:345a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPMCBHC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14703; , ; "PMID:40709894"; "A pan-Canadian collection of children and adults treated with drugs of interest who have been enrolled since 2005 by trained surveillance clinicians at major Canadian hospitals (first paediatric hospitals, as the Genotype-specific Approaches to Therapy in Childhood network), either as cases of serious adverse drug reactions, such as anthracycline-induced cardiotoxicity or cisplatin-induced hearing loss, or as drug-tolerant controls, and whose clinical data and biological samples are collected for genetic association studies to find genomic predictors of adverse drug reactions. The network is based at the University of British Columbia in Vancouver."; "The acronym GATC also denotes Cleveland Clinic GeneBank Study (COHO:0001576); this term is Canadian Pharmacogenomics Network for Drug Safety."@en; 9800; 88500; "CPNDS", "Canadian Pharmacogenomics Network for Drug Safety Database", "Canadian Pharmacogenomics Network for Drug Safety cohort", "GATC", "Genotype-specific Approaches to Therapy in Childhood", "Genotype-specific Approaches to Therapy in Children"; rdfs:label "Canadian Pharmacogenomics Network for Drug Safety"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14703 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:345b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14703; "adverse drug reactions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20578893+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A surveillance network has been established in 17 of Canada's major hospitals to identify patients experiencing specific ADRs and to collect biological samples and relevant clinical history for genetic association studies." . _:345c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20578893+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Canadian Pharmacogenomics Network for Drug Safety is a nation-wide effort established in Canada to identify novel predictive genomic markers of severe ADRs in children and adults." . _:345d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40709894"; "Four Pharmacogenomic Variants Strongly Linked to Corticosteroid-Induced Avascular Necrosis in Children with Cancer."; "PMID:40709894", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12649305/fullTextXML"; rdfs:comment "Study participants were recruited through the Canadian Pharmacogenomics Network for Drug Safety (CPNDS)." . _:345e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pan-Canadian collection of children and adults treated with drugs of interest who have been enrolled since 2005 by trained surveillance clinicians at major Canadian hospitals (first paediatric hospitals, as the Genotype-specific Approaches to Therapy in Childhood network), either as cases of serious adverse drug reactions, such as anthracycline-induced cardiotoxicity or cisplatin-induced hearing loss, or as drug-tolerant controls, and whose clinical data and biological samples are collected for genetic association studies to find genomic predictors of adverse drug reactions. The network is based at the University of British Columbia in Vancouver."; "PMID:19507171", "PMID:20578893", "PMID:30452777", "PMID:31083486", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4610716/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:345f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9800; "ADR cases and matched controls enrolled, as of June 2018 (no total stated)"; "https://www.bcchr.ca/POPi/research-capabilities"; rdfs:comment "As of June 2018, 9,800 ADR cases and 88,500 matched controls have been enrolled from across 13 pediatric academic health centres in Canada" . _:34602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 88500; "ADR cases and matched controls enrolled, as of June 2018 (no total stated)"; "https://www.bcchr.ca/POPi/research-capabilities"; rdfs:comment "As of June 2018, 9,800 ADR cases and 88,500 matched controls have been enrolled from across 13 pediatric academic health centres in Canada" . _:34612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPNDS"; . _:34622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GATC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14712, _:genid-371333f489424440b12a13b9d98ced822608-genid14714; , , ; "PMID:9406673"; "A prospective population-based cohort of Hong Kong Chinese adults aged 25–74, recruited in 1995–1996 through randomly generated telephone numbers from the general population of Hong Kong for a baseline survey of the prevalence of cardiovascular risk factors (CRISPS-1), with a comprehensive assessment including a 75-g oral glucose tolerance test, and re-examined with similar protocols in 2000–2004, 2005–2008, 2010–2012 and 2016–2018 (CRISPS-2 to CRISPS-5) to study the development of cardiovascular risk factors such as diabetes and hypertension."; 2895; "CRISPS"; rdfs:label "Hong Kong Cardiovascular Risk Factor Prevalence Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14712 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14714 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14712; "coronary heart disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9637304/fullTextXML"; rdfs:comment "CRISPS is a prospective, population-based longitudinal cohort designed to study the development of cardiovascular risk factors, including diabetes, in Hong Kong from 1995 to 2018." . _:34642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14714; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9637304/fullTextXML"; rdfs:comment "CRISPS is a prospective, population-based longitudinal cohort designed to study the development of cardiovascular risk factors, including diabetes, in Hong Kong from 1995 to 2018." . _:34652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:9406673"; "Epidemiology of cardiovascular risk factors in Hong Kong."; "PMID:9406673", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9406673+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To facilitate the development of appropriate population-wide coronary heart disease prevention strategies and to monitor their long-term impact, a comprehensive baseline Hong Kong Cardiovascular Risk Factor Prevalence Study was conducted in 1995-96." . _:34662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of Hong Kong Chinese adults aged 25–74, recruited in 1995–1996 through randomly generated telephone numbers from the general population of Hong Kong for a baseline survey of the prevalence of cardiovascular risk factors (CRISPS-1), with a comprehensive assessment including a 75-g oral glucose tolerance test, and re-examined with similar protocols in 2000–2004, 2005–2008, 2010–2012 and 2016–2018 (CRISPS-2 to CRISPS-5) to study the development of cardiovascular risk factors such as diabetes and hypertension."; "PMID:36335348", "PMID:38030128", "PMID:41662368", "PMID:9406673"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2895; "adults recruited at baseline (CRISPS-1), 1995-1996"; "PMID:36335348"; rdfs:comment "Briefly, in 1995–1996 (CRISPS-1), 2895 Hong Kong Chinese, aged 25–74, were randomly recruited from the general population of Hong Kong to undergo a comprehensive assessment." . _:34682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRISPS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. CRUK-CRI is the PGS Catalog's label for Cancer Research UK's Cambridge Research Institute (Li Ka Shing Centre), an author affiliation in PMID:29892050, placed among the GWAS datasets of PGS000751's variant source. By elimination it most likely stands for the 'UK stage 1 and 2' GWAS of that meta-analysis (the only sub-cohort the Catalog's list lacks), but no text says so; either way it is an institution, not a named study sample. The UK stage 1 and 2 GWAS are genotyping stages of the UK prostate cancer GWAS rather than a cohort. No COHO term or review row uses the name. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Cancer Research UK - Cambridge Research Institute"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14720; , ; "PGS000799", "PMID:29273806"; "A multicentre family study of the genetics of asthma supported by the US National Heart, Lung, and Blood Institute, in which African American, European American and Hispanic families were ascertained through two siblings with asthma at centres at Johns Hopkins University, the University of Chicago, the University of Minnesota and the University of Maryland, to identify loci contributing to asthma and asthma-associated phenotypes."; "CSGA", "Collaborative Studies on the Genetics of Asthma", "NHLBI Collaborative Studies on the Genetics of Asthma"; ; rdfs:label "Collaborative Study on the Genetics of Asthma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14720 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14720; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1226130/"; rdfs:comment "Families were ascertained through two siblings with asthma and then were expanded to include other affected relatives, by extending the family either through relatives with asthma or through one unaffected relative." . _:346a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1226130/"; rdfs:comment "All 266 families were ascertained through sib pairs with asthma at the CSGA centers in the United States." . _:346b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000799"; "Genetic risk scores do not improve asthma prediction in childhood."; "PMID:31145937" . _:346c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The STAMPEED asthma project includes subjects from the Chicago Asthma Genetics Study (C.A.G.) as well as from SARP and CSGA." . _:346d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre family study of the genetics of asthma supported by the US National Heart, Lung, and Blood Institute, in which African American, European American and Hispanic families were ascertained through two siblings with asthma at centres at Johns Hopkins University, the University of Chicago, the University of Minnesota and the University of Maryland, to identify loci contributing to asthma and asthma-associated phenotypes."; "PMID:11349227", "PMID:11793707"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:346e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14727; , ; "PGS005170", "PMID:29203885"; "A multicentre prospective cohort of patients with stable or unstable angina pectoris undergoing coronary angiography at four medical centres in the Netherlands, recruited from March 2009 to September 2011 in the CIRCULATING CELLS project of the Center for Translational Molecular Medicine, whose blood cell fractions were isolated and characterised to find cellular biomarkers that predict adverse cardiovascular events."; 714; "CIRCULATING CELLS study", "CTMM", "CTMM - CIRCULATING CELLS Cohort", "CTMM - Circulating Cells", "CTMM Circulating Cells", "Center for Translational Molecular Medicine", "Center for Translational Molecular Medicine-Circulating Cells Cohort", "Circulating Cells Cohort", "Circulating Cells cohort", "Circulating Cells study"; ; rdfs:label "Center for Translational Molecular Medicine – Circulating Cells Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14727 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:346f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14727; "angina pectoris"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714995/fullTextXML"; rdfs:comment "CTMM Circulating Cells is a multi-center cohort of four Dutch medical centers that enrolled patients with stable or unstable angina pectoris undergoing coronary angiography, with the aim of identifying cellular biomarkers for the prediction of adverse cardiovascular events." . _:34702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714995/fullTextXML"; rdfs:comment "CTMM Circulating Cells is a multi-center cohort of four Dutch medical centers that enrolled patients with stable or unstable angina pectoris undergoing coronary angiography, with the aim of identifying cellular biomarkers for the prediction of adverse cardiovascular events." . _:34712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:34722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29203885"; "Monocyte gene expression in childhood obesity is associated with obesity and complexity of atherosclerosis in adults."; "PMID:29203885", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5714995/fullTextXML"; rdfs:comment "CTMM Circulating Cells is a multi-center cohort of four Dutch medical centers that enrolled patients with stable or unstable angina pectoris undergoing coronary angiography, with the aim of identifying cellular biomarkers for the prediction of adverse cardiovascular events." . _:34732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort of patients with stable or unstable angina pectoris undergoing coronary angiography at four medical centres in the Netherlands, recruited from March 2009 to September 2011 in the CIRCULATING CELLS project of the Center for Translational Molecular Medicine, whose blood cell fractions were isolated and characterised to find cellular biomarkers that predict adverse cardiovascular events."; "PMID:23975238", "PMID:28593492", "PMID:29203885"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 714; "patients enrolled in the CIRCULATING CELLS design paper"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23975238+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In total, 714 patients with coronary artery disease (CAD) symptoms were included." . _:34752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CTMM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14735, _:genid-371333f489424440b12a13b9d98ced822608-genid14737; , ; , ; "PGS000004", "PMID:12296510"; "A prospective cohort of female California teachers and administrators, established in 1995-1996 among members of the California State Teachers Retirement System who completed a detailed mailed questionnaire on possible risk factors for breast and other cancers, with cancer outcomes identified by linkage to the California Cancer Registry."; 133479; "CTS", "California Teachers Study (CTS)"; , ; rdfs:label "California Teachers Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid14735 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14737 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14735; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12296510+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To determine risk factor profiles and cancer incidence rates among participants in the California Teachers Study (CTS), a study designed to document high breast cancer incidence rates of California teachers and to investigate emergent hypotheses in the etiology of breast and other cancers." . _:34772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14737; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12296510+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To determine risk factor profiles and cancer incidence rates among participants in the California Teachers Study (CTS), a study designed to document high breast cancer incidence rates of California teachers and to investigate emergent hypotheses in the etiology of breast and other cancers." . _:34782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12146845+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Recent diet and breast cancer risk: the California Teachers Study (USA)." . _:34792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes."; "PMID:30554720" . _:347a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12296510"; "High breast cancer incidence rates among California teachers: results from the California Teachers Study (United States)."; "PMID:12296510", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12296510+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "[corrected] To determine risk factor profiles and cancer incidence rates among participants in the California Teachers Study (CTS), a study designed to document high breast cancer incidence rates of California teachers and to investigate emergent hypotheses in the etiology of breast and other cancers." . _:347b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of female California teachers and administrators, established in 1995-1996 among members of the California State Teachers Retirement System who completed a detailed mailed questionnaire on possible risk factors for breast and other cancers, with cancer outcomes identified by linkage to the California Cancer Registry."; "PMID:12296510"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:347c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 133479; "female teachers and administrators enrolled in 1995-1996"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12296510+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The CTS is a prospective study of 133,479 California female teachers and administrators, established in 1995-1996 with members of the California State Teachers Retirement System completing a detailed mailed questionnaire regarding possible risk factors for breast and other cancers." . _:347d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CTS"; . _:347e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "California Teachers Study (CTS)"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14746; , , ; "PMID:22158537"; "A case–control study of type 2 diabetes in southern Han Chinese residents of Hong Kong, conducted by the Chinese University of Hong Kong. Its cases are patients with type 2 diabetes selected from the Prince of Wales Hospital Diabetes Registry (the Hong Kong Diabetes Register), either with early-onset diabetes and a positive family history or selected at random, excluding classic type 1 diabetes, and its controls, with normal glucose tolerance, were recruited from hospital staff, a community-based cardiovascular risk screening programme and a population-based cardiovascular risk screening programme for adolescents."; 1477; 1584; 3061; "CUHKDS", "CUHKS"; rdfs:label "Chinese University of Hong Kong Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14746 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:347f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14746; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The cases consisted of 1,477 subjects with T2D selected from the Prince of Wales Hospital Diabetes Registry" . _:34802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The subjects in the Hong Kong case-control study were of southern Han Chinese ancestry and resided in Hong Kong" . _:34812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22158537"; "Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians."; "PMID:22158537", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3582398/unicode"; rdfs:comment "Stage 3 included up to, 12,284 cases and 13,172 controls from five different studies comprised of the Japan Cardiometabolic Genome Epidemiology Network (CAGE), the Shanghai Diabetes Study I/II (SDS I/II), the Chinese University of Hong Kong Diabetes Study (CUHKDS), the National Taiwan University Hospital Diabetes Study (NTUHDS) and the Seoul National University Hospital Diabetes Study (SNUHDS) for de novo replication analysis." . _:34822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of type 2 diabetes in southern Han Chinese residents of Hong Kong, conducted by the Chinese University of Hong Kong. Its cases are patients with type 2 diabetes selected from the Prince of Wales Hospital Diabetes Registry (the Hong Kong Diabetes Register), either with early-onset diabetes and a positive family history or selected at random, excluding classic type 1 diabetes, and its controls, with normal glucose tolerance, were recruited from hospital staff, a community-based cardiovascular risk screening programme and a population-based cardiovascular risk screening programme for adolescents."; "PMID:22158537", "PMID:25187374"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1477; "T2D cases and controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "CUHK CUHKDS Chinese 1477 1584 3061 Case-control" . _:34842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1584; "T2D cases and controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "CUHK CUHKDS Chinese 1477 1584 3061 Case-control" . _:34852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3061; "T2D cases and controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "CUHK CUHKDS Chinese 1477 1584 3061 Case-control" . _:34862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CUHKDS"; . _:34872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CUHKS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14756, _:genid-371333f489424440b12a13b9d98ced822608-genid14758, _:genid-371333f489424440b12a13b9d98ced822608-genid14760, _:genid-371333f489424440b12a13b9d98ced822608-genid14762; , , ; "PMID:15277424"; "A population-based epidemiological study of diabetes and its complications in adults aged 20 years or more in Chennai, southern India, run by the Madras Diabetes Research Foundation. A representative sample of the city's residents, from wards chosen by systematic random sampling, was screened for diabetes in a door-to-door survey in 2001–2003; everyone found to have diabetes and every tenth participant then underwent detailed anthropometric, biochemical and complication studies, and they were followed up in 2012–2014."; "The acronym CURES also denotes China Pulmonary Thromboembolism Registry Study (COHO:0001639); this term is Chennai Urban Rural Epidemiology Study."@en; 26001; "CURES"; rdfs:label "Chennai Urban Rural Epidemiology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14756 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14758 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14760 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14762 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14756; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14710970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CURES is perhaps one of the largest systematic population based studies to be done in India in the field of diabetes and its complications like retinopathy, nephropathy and neuropathy." . _:34892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14758; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14710970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CURES is perhaps one of the largest systematic population based studies to be done in India in the field of diabetes and its complications like retinopathy, nephropathy and neuropathy." . _:348a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14760; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14710970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CURES is perhaps one of the largest systematic population based studies to be done in India in the field of diabetes and its complications like retinopathy, nephropathy and neuropathy." . _:348b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14762; "diabetic neuropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14710970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "CURES is perhaps one of the largest systematic population based studies to be done in India in the field of diabetes and its complications like retinopathy, nephropathy and neuropathy." . _:348c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14710970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Chennai (formerly Madras), the largest city in Southern India and the fourth largest in India has been divided into 10 zones and 155 wards. 46 wards were selected by a systematic random sampling method to represent the whole of Chennai." . _:348d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:15277424"; "Association of carotid intima-media thickness and arterial stiffness with diabetic retinopathy: the Chennai Urban Rural Epidemiology Study (CURES-2)."; "PMID:15277424", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15277424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study was conducted on 600 type 2 diabetic subjects randomly selected from the Chennai Urban Rural Epidemiology Study (CURES), which is an ongoing population-based study of a representative population of Chennai." . _:348e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based epidemiological study of diabetes and its complications in adults aged 20 years or more in Chennai, southern India, run by the Madras Diabetes Research Foundation. A representative sample of the city's residents, from wards chosen by systematic random sampling, was screened for diabetes in a door-to-door survey in 2001–2003; everyone found to have diabetes and every tenth participant then underwent detailed anthropometric, biochemical and complication studies, and they were followed up in 2012–2014."; "PMID:14710970", "PMID:29985959"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:348f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26001; "adults screened for diabetes in the baseline survey, 2001-2003"; "PMID:29985959"; rdfs:comment "In the baseline survey carried out between 2001 and 2003, all 26001 individuals were screened for diabetes." . _:34902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CURES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14769, _:genid-371333f489424440b12a13b9d98ced822608-genid14771; , , ; "PMID:37076872"; "An ongoing national, prospective, multicentre registry of patients with suspected or confirmed acute pulmonary embolism, with or without deep vein thrombosis, enrolled at medical centres of the China PE-DVT network across China and led from the China-Japan Friendship Hospital in Beijing, to describe the spectrum, trends, causes and outcomes of pulmonary embolism in China. Started in January 2009 with in-hospital outcomes, it has followed patients for at least three months since July 2011 and, since August 2016, has collected their blood samples and followed them for at least two years."; "The acronym CURES also denotes Chennai Urban Rural Epidemiology Study (COHO:0001638); this term is China Pulmonary Thromboembolism Registry Study."@en; 14937; "CURES", "CURES_China", "China pUlmonary Thromboembolism REgistry Study", "China pUlmonary thromboembolism REgistry Study"; rdfs:label "China Pulmonary Thromboembolism Registry Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14769 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14771 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14769; "deep vein thrombosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32522676+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The CURES is an ongoing large prospective multicenter registry, which was originally initiated in January 2009 via enrolling suspected or confirmed PE or PE with DVT (deep venous thrombosis) patients and assessed their in-hospital outcomes." . _:34922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14771; "pulmonary embolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32522676+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The CURES is an ongoing large prospective multicenter registry, which was originally initiated in January 2009 via enrolling suspected or confirmed PE or PE with DVT (deep venous thrombosis) patients and assessed their in-hospital outcomes." . _:34932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33986031+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We retrospectively analysed the trends of risk stratification, management and in-hospital mortality for patients with acute PE through a multicentre registry in China (CURES).Adult patients with acute symptomatic PE were included between 2009 and 2015." . _:34942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37076872"; "Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population."; "PMID:37076872", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10116678/fullTextXML"; rdfs:comment "All samples were collected from the China Pulmonary Thromboembolism Registry Study (CURES), recruited from 2016 to 2020 [19]." . _:34952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing national, prospective, multicentre registry of patients with suspected or confirmed acute pulmonary embolism, with or without deep vein thrombosis, enrolled at medical centres of the China PE-DVT network across China and led from the China-Japan Friendship Hospital in Beijing, to describe the spectrum, trends, causes and outcomes of pulmonary embolism in China. Started in January 2009 with in-hospital outcomes, it has followed patients for at least three months since July 2011 and, since August 2016, has collected their blood samples and followed them for at least two years."; "PMID:32522676", "PMID:35242828"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14937; "eligible patients enrolled, 2009 to 31 December 2019"; "PMID:32522676"; rdfs:comment "Up to 31 December 2019, the CURES has enrolled 14,937 eligible patients and collected 1500 blood samples of patients from 100 medical centers in the China PE-DVT network." . _:34972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CURES"; . _:34982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CURES_China"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14779; , ; "PMID:34039022"; "An autopsy registry of people who died suddenly and unexpectedly, whose hearts have been referred since the mid-1990s to CVPath Institute in Gaithersburg, Maryland, by the Office of the Chief Medical Examiner of the State of Maryland through an ongoing cardiovascular pathology consultation service. The cause of death is determined by detailed histopathological examination of the heart and coronary arteries, and DNA extracted from the archived tissue is used to study the genetics of sudden cardiac death and of coronary plaque."; 5262; "CVPI-SCDr", "CVPath Sudden Death Autopsy Registry", "CVPath Sudden Death Registry"; rdfs:label "CVPath Institute Sudden Cardiac Death registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14779 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14779; "sudden cardiac death"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8173469/"; rdfs:comment "In our autopsy registry of more than 5000 cases of suspected SCD referred from OCME-MD, we identified 683 hearts from White and African American decedents with unexplained SCD." . _:349a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8173469/"; rdfs:comment "Between January 1995 and December 2015, CVPath Institute was referred 5262 hearts from cases of unexpected sudden death from the Office of the Chief Medical Examiner of the State of Maryland (OCME-MD)." . _:349b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34039022"; "APOL1 Genetic Variants Are Associated With Increased Risk of Coronary Atherosclerotic Plaque Rupture in the Black Population."; "PMID:34039022", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8651054/unicode"; rdfs:comment "The CVPath Institute Sudden Cardiac Death registry heart samples are received through an ongoing joint consultation service provided to the Maryland Office of the Chief Medical Examiner." . _:349c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An autopsy registry of people who died suddenly and unexpectedly, whose hearts have been referred since the mid-1990s to CVPath Institute in Gaithersburg, Maryland, by the Office of the Chief Medical Examiner of the State of Maryland through an ongoing cardiovascular pathology consultation service. The cause of death is determined by detailed histopathological examination of the heart and coronary arteries, and DNA extracted from the archived tissue is used to study the genetics of sudden cardiac death and of coronary plaque."; "PMID:34039022", "PMID:34076677", "PMID:37916415"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:349d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5262; "hearts of sudden-death cases referred January 1995 to December 2015"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8173469/"; rdfs:comment "Between January 1995 and December 2015, CVPath Institute was referred 5262 hearts from cases of unexpected sudden death from the Office of the Chief Medical Examiner of the State of Maryland (OCME-MD)." . _:349e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CVPI-SCDr"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14786; , ; ; "GCST003219"; "A clinic-based case–control collection for genetic studies of age-related macular degeneration in Cleveland, Ohio, whose cases, graded by the Age-Related Eye Disease Study criteria, and controls without signs of macular degeneration or a family history of retinal disease, mostly of European descent, gave blood samples at the Cole Eye Institute of the Cleveland Clinic and at the Veterans Affairs eye clinic."; "The acronym CWRU also denotes Genetic Modifier Study (COHO:0001179); this term is Cleveland Clinic Foundation/Veteran Affairs Medical Center Cohort."@en; 1037; 370; "CCF/VAMC", "CWRU"; ; rdfs:label "Cleveland Clinic Foundation/Veteran Affairs Medical Center Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14786 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:349f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14786; "age-related macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20042177+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied 1037 individuals with AMD subcategorized using AREDS criteria and 370 control subjects without retinal disease." . _:34a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3026437/unicode"; rdfs:comment "Blood samples were collected at the Cole Eye Institute (CEI), Cleveland Clinic and the VA Eye Clinic." . _:34a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST003219"; "A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants."; "PMID:26691988", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The CWRU group was supported by VA Merit Review (NSP), Foundation Fighting Blindness (SAH), Research to Prevent Blindness (SAH); International Retinal Research Foundation (SKI)." . _:34a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case–control collection for genetic studies of age-related macular degeneration in Cleveland, Ohio, whose cases, graded by the Age-Related Eye Disease Study criteria, and controls without signs of macular degeneration or a family history of retinal disease, mostly of European descent, gave blood samples at the Cole Eye Institute of the Cleveland Clinic and at the Veterans Affairs eye clinic."; "PMID:20042177", "PMID:23455636", "PMID:26691988"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1037; "AMD cases and controls studied in 2010 (no total stated)"; "PMID:20042177"; rdfs:comment "We studied 1037 individuals with AMD subcategorized using AREDS criteria and 370 control subjects without retinal disease." . _:34a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 370; "AMD cases and controls studied in 2010 (no total stated)"; "PMID:20042177"; rdfs:comment "We studied 1037 individuals with AMD subcategorized using AREDS criteria and 370 control subjects without retinal disease." . _:34a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CCF/VAMC"; . _:34a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CWRU"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14795; , ; "PMID:21256834"; "A series of independent cross-sectional surveys of cardiovascular risk factors in the Czech Republic that continued the country's WHO MONICA Project surveys: random 1% samples of residents aged 25–64 years, stratified by age and sex and drawn from health insurance registers, were examined in the same districts in 1997/98, 2000/01, 2007/08 and 2016/17 by investigators in Prague (the Institute for Clinical and Experimental Medicine, and Charles University and Thomayer Hospital). DNA from its participants has also served as general-population controls in genetic studies."; "Czech Post-MONICA Study", "Czech post-MONICA", "Czech post-MONICA Study", "Czech_post-MONICA"; rdfs:label "Czech post-MONICA study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14795 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14795; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8382653/fullTextXML"; rdfs:comment "The Czech post-MONICA (the WHO Monitoring Trends and Determinants in Cardiovascular Disease) study was a cross-sectional survey investigating the determinants of cardiovascular risk factors in a 1% random sample of the general population in nine districts of the Czech Republic, stratified by age and sex [30]." . _:34a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40992627+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Individuals from the Czech post-MONICA study representing the general Czech population (n=2,621) were used as controls." . _:34a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21256834"; "Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population."; "PMID:21256834", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21256834+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The control group were 1995 individuals of the population sample of the Czech post-MONICA study (956 males and 1039 females)." . _:34aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A series of independent cross-sectional surveys of cardiovascular risk factors in the Czech Republic that continued the country's WHO MONICA Project surveys: random 1% samples of residents aged 25–64 years, stratified by age and sex and drawn from health insurance registers, were examined in the same districts in 1997/98, 2000/01, 2007/08 and 2016/17 by investigators in Prague (the Institute for Clinical and Experimental Medicine, and Charles University and Thomayer Hospital). DNA from its participants has also served as general-population controls in genetic studies."; "PMID:32392239", "PMID:34226943", "PMID:38252350"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Czech post-MONICA"; . _:34ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Czech_post-MONICA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14802; , ; ; "PMID:29273806"; "A genome-wide association sample of asthma from the north of the Netherlands, assembled by the Dutch Asthma Genetics Consortium in two phases that were genotyped separately and meta-analysed: a family-based phase whose asthmatic cases came from a trio and family study, with non-asthmatic spouses or the untransmitted alleles of the trios as controls, and a case–control phase whose asthmatics came from earlier clinical and genetic studies of the investigators' research institute, with controls from COPACETIC, a population-based lung cancer screening study of male smokers. Cases had a physician's diagnosis of asthma, asthma symptoms and bronchial hyperresponsiveness; controls had no asthma, COPD or significant airway obstruction."; 915; 986; "DAG", "Dutch Asthma GWAS study"; rdfs:label "Dutch Asthma GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14802; "asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "Dutch Asthma Genetics Consortium (DAGC) Subjects : The Dutch Asthma GWAS (DAG) cohort consists of in total 915 asthma cases and 986 controls, allfromthenorthernoftheNetherlands.TheDAGcohortwasgenotypedintwophasesandmeta‐analysed afterwards." . _:34ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "Dutch Asthma Genetics Consortium (DAGC) Subjects : The Dutch Asthma GWAS (DAG) cohort consists of in total 915 asthma cases and 986 controls, allfromthenorthernoftheNetherlands.TheDAGcohortwasgenotypedintwophasesandmeta‐analysed afterwards." . _:34af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "Dutch Asthma Genetics Consortium (DAGC) Subjects : The Dutch Asthma GWAS (DAG) cohort consists of in total 915 asthma cases and 986 controls, allfromthenorthernoftheNetherlands.TheDAGcohortwasgenotypedintwophasesandmeta‐analysed afterwards." . _:34b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association sample of asthma from the north of the Netherlands, assembled by the Dutch Asthma Genetics Consortium in two phases that were genotyped separately and meta-analysed: a family-based phase whose asthmatic cases came from a trio and family study, with non-asthmatic spouses or the untransmitted alleles of the trios as controls, and a case–control phase whose asthmatics came from earlier clinical and genetic studies of the investigators' research institute, with controls from COPACETIC, a population-based lung cancer screening study of male smokers. Cases had a physician's diagnosis of asthma, asthma symptoms and bronchial hyperresponsiveness; controls had no asthma, COPD or significant airway obstruction."; "PMID:29273806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 915; "asthma cases and controls of the two genotyping phases (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Dutch Asthma GWAS (DAG) cohort consists of in total 915 asthma cases and 986 controls" . _:34b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 986; "asthma cases and controls of the two genotyping phases (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Dutch Asthma GWAS (DAG) cohort consists of in total 915 asthma cases and 986 controls" . _:34b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DAG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14810; , ; "PMID:31617229"; "A national registry of patients with autoimmune hepatitis in the Netherlands kept by the Dutch Autoimmune Hepatitis Study Group, a collaboration of Dutch tertiary referral and general hospitals supported by the Netherlands Association for the Study of the Liver, which includes known patients retrospectively and new patients prospectively. Its patients have been studied for the treatment and outcome of the disease, and its adult patients with type 1 autoimmune hepatitis were genotyped for a genome-wide association study of the disease."; 1313; "DAIHSGC", "Dutch AIH Study", "Dutch AIH Study Group", "Dutch AIH Study Group Consortium"; rdfs:label "Dutch Autoimmune Hepatitis Study Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14810 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14810; "autoimmune hepatitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6899908/fullTextXML"; rdfs:comment "The registry of the Dutch Autoimmune Hepatitis Study Group contains data from autoimmune hepatitis patients, the collection of data started in 2008 and is ongoing." . _:34b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6899908/fullTextXML"; rdfs:comment "The study protocol (number 2008.84) was approved by the institutional review boards of all participating tertiary referral (n = 6) and general hospitals (n = 10) in the Netherlands." . _:34b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31617229"; "Adverse events related to low dose corticosteroids in autoimmune hepatitis."; "PMID:31617229", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6899908/fullTextXML"; rdfs:comment "The registry of the Dutch Autoimmune Hepatitis Study Group contains data from autoimmune hepatitis patients, the collection of data started in 2008 and is ongoing." . _:34b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national registry of patients with autoimmune hepatitis in the Netherlands kept by the Dutch Autoimmune Hepatitis Study Group, a collaboration of Dutch tertiary referral and general hospitals supported by the Netherlands Association for the Study of the Liver, which includes known patients retrospectively and new patients prospectively. Its patients have been studied for the treatment and outcome of the disease, and its adult patients with type 1 autoimmune hepatitis were genotyped for a genome-wide association study of the disease."; "PMID:24768677", "PMID:25611558", "PMID:31617229", "PMID:34165262"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1313; "patients in the national epidemiological registry report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25123213+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Clinical characteristics were collected from 1313 AIH patients (78% females) from 31 centers, including all eight academic centers in the Netherlands." . _:34b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DAIHSGC"; . a owl:NamedIndividual, ; , ; "PGS005170", "PMID:28275316"; "A Danish population-based cohort of men and women aged 18 to 76, drawn at random from the national registers among people born in Denmark and living in the western part of greater Copenhagen and examined at the Research Centre for Prevention and Health, Glostrup, from 2011 to 2015, set up to study the epidemiology of functional somatic syndromes (such as fibromyalgia, irritable bowel syndrome and chronic fatigue syndrome) and bodily distress syndrome. It merges a follow-up examination of the Health2006 cohort (DanFunD part one, 2011-2012) with a new random sample examined from 2012 to 2015 (DanFunD part two)."; 9656; "DANFUND", "DanFunD", "DanFund", "Danfund", "Danish Study of Functional Disorders", "The Danish study of functional disorders"; ; rdfs:label "The Danish study of Functional Disorders"@en . _:34ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33626058+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were derived from a random sample of the Danish adult population enrolled in the Danish Study of Functional Disorders (DanFunD; n = 9,656)." . _:34bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:34bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28275316"; "Cohort description: The Danish study of Functional Disorders."; "PMID:28275316", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5333638/fullTextXML"; rdfs:comment "The Danish study of Functional Disorders (DanFunD) cohort was initiated to outline the epidemiology of functional somatic syndromes (FSS) and is the first larger coordinated epidemiological study focusing exclusively on FSS." . _:34bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish population-based cohort of men and women aged 18 to 76, drawn at random from the national registers among people born in Denmark and living in the western part of greater Copenhagen and examined at the Research Centre for Prevention and Health, Glostrup, from 2011 to 2015, set up to study the epidemiology of functional somatic syndromes (such as fibromyalgia, irritable bowel syndrome and chronic fatigue syndrome) and bodily distress syndrome. It merges a follow-up examination of the Health2006 cohort (DanFunD part one, 2011-2012) with a new random sample examined from 2012 to 2015 (DanFunD part two)."; "PMID:28275316"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9656; "participants examined in the combined DanFunD cohort 2011-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5333638/fullTextXML"; rdfs:comment "The cohort comprises a total of 9,656 men and women aged 18–76 years, born in Denmark and living in the western part of the greater Copenhagen." . _:34bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DANFUND"; . _:34c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DanFunD"; . _:34c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DanFund"; . _:34c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Danfund"; . a owl:NamedIndividual, ; ; "Danshi"; ; rdfs:label "Combined Danshi"@en . _:34c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Danshi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14827; , , ; "PGS000777", "PMID:33958783"; "A double-blind, multicentre, placebo-controlled clinical trial of the Parkinson Study Group that enrolled patients with early, otherwise untreated Parkinson's disease at sites in the United States and Canada and randomised them, in a 2 x 2 factorial design, to deprenyl, tocopherol (vitamin E), both or placebo, to test whether long-term treatment extends the time until disability requires levodopa therapy."; 800; "DATATOP", "Deprenyl And Tocopherol Antioxidative Therapy Of Parkinsonism", "Deprenyl and Tocopherol Antioxidative Therapy of Parkinsonism"; ; rdfs:label "Deprenyl and tocopherol antioxidative therapy of parkinsonism"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14827 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14827; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2508608+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "At 28 US and Canadian sites, 800 eligible patients in the early stages of untreated Parkinson's disease were enrolled in DATATOP and randomized to (1) active deprenyl, (2) active tocopherol, (3) active deprenyl and tocopherol, or (4) placebo treatments." . _:34c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2508608+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "At 28 US and Canadian sites, 800 eligible patients in the early stages of untreated Parkinson's disease were enrolled in DATATOP and randomized to (1) active deprenyl, (2) active tocopherol, (3) active deprenyl and tocopherol, or (4) placebo treatments." . _:34c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:34c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33958783"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8459648/unicode"; rdfs:comment "In DATATOP, the eligibility criteria required a clinical diagnosis of early, idiopathic PD (HY stages 1 or 2) with patients not on anti-parkinsonian medications." . _:34c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A double-blind, multicentre, placebo-controlled clinical trial of the Parkinson Study Group that enrolled patients with early, otherwise untreated Parkinson's disease at sites in the United States and Canada and randomised them, in a 2 x 2 factorial design, to deprenyl, tocopherol (vitamin E), both or placebo, to test whether long-term treatment extends the time until disability requires levodopa therapy."; "PMID:2508608", "PMID:2515723"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 800; "randomised patients in DATATOP"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2508608+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "At 28 US and Canadian sites, 800 eligible patients in the early stages of untreated Parkinson's disease were enrolled in DATATOP and randomized to (1) active deprenyl, (2) active tocopherol, (3) active deprenyl and tocopherol, or (4) placebo treatments." . _:34ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DATATOP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14835; , ; "PGS004241", "PMID:21750109"; "A German hospital-based case-control study of urinary bladder cancer at the Department of Urology of St.-Josefs-Hospital Dortmund-Hörde, in the Ruhr area (a former coal, iron and steel industry region), whose cases have confirmed bladder cancer and whose controls are cancer-free patients of the same department admitted for benign urological diseases, enrolled from July 2009 to July 2010; it has contributed to genome-wide association studies of bladder cancer."; 197; 240; "DBCS", "Dortmund bladder cancer study", "The Dortmund Bladder Cancer Study"; ; rdfs:label "Dortmund Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14835 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14835; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The case–control series consists of 197 patients with a confirmed bladder cancer from the Department of Urology, St.-Josefs-Hospital Dortmund-Hörde, located in the Ruhr area, an area of former coal, iron and steel industries and 240 controls from the same Department of Urology, admitted for treatment of benign urological diseases, enrolled from July 2009 to July 2010." . _:34cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "Germany—Dortmund (196/239)" . _:34cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004241"; "Potential utility of risk stratification for multicancer screening with liquid biopsy tests."; "PMID:37087533" . _:34ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21750109"; "European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene."; "PMID:21750109", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The Dortmund bladder cancer study." . _:34cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German hospital-based case-control study of urinary bladder cancer at the Department of Urology of St.-Josefs-Hospital Dortmund-Hörde, in the Ruhr area (a former coal, iron and steel industry region), whose cases have confirmed bladder cancer and whose controls are cancer-free patients of the same department admitted for benign urological diseases, enrolled from July 2009 to July 2010; it has contributed to genome-wide association studies of bladder cancer."; "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 197; "recruited cases and controls, July 2009-July 2010"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The case–control series consists of 197 patients with a confirmed bladder cancer from the Department of Urology, St.-Josefs-Hospital Dortmund-Hörde, located in the Ruhr area, an area of former coal, iron and steel industries and 240 controls from the same Department of Urology, admitted for treatment of benign urological diseases, enrolled from July 2009 to July 2010." . _:34d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 240; "recruited cases and controls, July 2009-July 2010"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The case–control series consists of 197 patients with a confirmed bladder cancer from the Department of Urology, St.-Josefs-Hospital Dortmund-Hörde, located in the Ruhr area, an area of former coal, iron and steel industries and 240 controls from the same Department of Urology, admitted for treatment of benign urological diseases, enrolled from July 2009 to July 2010." . _:34d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DBCS"; . a owl:NamedIndividual, ; ; "DBS"; ; rdfs:label "Dutch Breda Study"@en . _:34d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14845, _:genid-371333f489424440b12a13b9d98ced822608-genid14847, _:genid-371333f489424440b12a13b9d98ced822608-genid14849; , ; ; "PGS005159", "PMID:38016806"; "A Danish prospective cohort of the Danish Cancer Society that recruited men and women aged 50 to 64, born in Denmark, living in Aarhus or Copenhagen and without a cancer diagnosis, between 1993 and 1997, collecting questionnaires, a clinical examination and biological samples to investigate how diet and lifestyle relate to the risk of cancer and other chronic diseases. It is an associated cohort of the European Prospective Investigation into Cancer and Nutrition."; 57053; "DCH", "Danish Diet, Cancer and Health Cohort", "Danish Diet, Cancer and Health cohort", "Danish EPIC Diet, Cancer and Health cohort", "Diet, Cancer and Health cohort", "Diet, Cancer, and Health"; ; rdfs:label "Diet, Cancer and Health"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14845 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14847 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14849 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14845; "lifestyle"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9960719/"; rdfs:comment "The primary aim of the cohort is to investigate associations of diet and lifestyle with the risk of cancer and other chronic diseases." . _:34d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14847; "diet"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9960719/"; rdfs:comment "The primary aim of the cohort is to investigate associations of diet and lifestyle with the risk of cancer and other chronic diseases." . _:34d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14849; "cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9960719/"; rdfs:comment "The primary aim of the cohort is to investigate associations of diet and lifestyle with the risk of cancer and other chronic diseases." . _:34d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11041579/fullTextXML"; rdfs:comment "Briefly, between 1993 and 1997, a total of 160 725 women and men born in Denmark, aged 50–64 years, with no diagnosis of cancer, were invited." . _:34d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9960719/fullTextXML"; rdfs:comment "As example Diet, Cancer, and Health is an associated cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC)." . _:34d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005159"; "Interaction of genetic risk and lifestyle on the incidence of atrial fibrillation."; "PMID:38016806" . _:34da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38016806"; "Interaction of genetic risk and lifestyle on the incidence of atrial fibrillation."; "PMID:38016806", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38016806+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We included AF cases and a randomly drawn subcohort of 4040 participants from the Danish Diet, Cancer and Health cohort." . _:34db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish prospective cohort of the Danish Cancer Society that recruited men and women aged 50 to 64, born in Denmark, living in Aarhus or Copenhagen and without a cancer diagnosis, between 1993 and 1997, collecting questionnaires, a clinical examination and biological samples to investigate how diet and lifestyle relate to the risk of cancer and other chronic diseases. It is an associated cohort of the European Prospective Investigation into Cancer and Nutrition."; "PMID:36852012", "PMID:38016806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 57053; "participants recruited in 1993-1997"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11041579/"; rdfs:comment "A total of 57 053 individuals accepted participation in a research examination." . _:34dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCH"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. DC-IBD is the label the early-onset inflammatory bowel disease GWAS of PMID:19915574 gives its own discovery case-control set, not a named study. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete IBD discovery case cohort"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14858; , ; ; "PGS000751", "PMID:21637779"; "A set of case-control studies of genetic risk factors for prostate cancer in which unrelated self-described African American men were recruited between 2001 and 2005 from the Division of Urology at Howard University Hospital in Washington, DC, United States, with age-matched controls ascertained from the prostate cancer screening population of the same division."; 292; 359; "DCPC"; ; rdfs:label "Case-Control Study of Prostate Cancer among African Americans in Washington, DC"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14858 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14858; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102736/"; rdfs:comment "Unrelated men self-described as African American were recruited for several case-control studies on genetic risk factors for prostate cancer between the years 2001 and 2005 from the Division of Urology at Howard University Hospital (HUH) in Washington, DC." . _:34df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102736/"; rdfs:comment "Unrelated men self-described as African American were recruited for several case-control studies on genetic risk factors for prostate cancer between the years 2001 and 2005 from the Division of Urology at Howard University Hospital (HUH) in Washington, DC." . _:34e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:34e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21637779"; "Characterizing genetic risk at known prostate cancer susceptibility loci in African Americans."; "PMID:21637779", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102736/"; rdfs:comment "DCPC was supported by NIH grant S06GM08016 and DOD grants DAMD W81XWH-07-1-0203 and DAMD W81XWH-06-1-0066." . _:34e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A set of case-control studies of genetic risk factors for prostate cancer in which unrelated self-described African American men were recruited between 2001 and 2005 from the Division of Urology at Howard University Hospital in Washington, DC, United States, with age-matched controls ascertained from the prostate cancer screening population of the same division."; "PMID:21637779"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 292; "cases and controls in the DCPC case-control studies, 2001-2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102736/"; rdfs:comment "These studies included 292 cases and 359 controls." . _:34e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 359; "cases and controls in the DCPC case-control studies, 2001-2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102736/"; rdfs:comment "These studies included 292 cases and 359 controls." . _:34e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14867; , ; ; "PMID:23164817"; "A case–control study of recurrent major depressive disorder in the United Kingdom, funded by the Medical Research Council, that recruited unrelated patients who had had at least two episodes of major depression of at least moderate severity, diagnosed with the Schedules for Clinical Assessment in Neuropsychiatry (SCAN) interview, at three UK sites (London, Cardiff and Birmingham), together with healthy controls; it is one of the three studies making up the RADIANT depression sample."; 1420; 1624; "DeCC", "Depression Case Control", "Depression Case Control study", "Depression Case-Control study", "depression case-control study"; rdfs:label "Depression Case Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14867 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14867; "recurrent major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4407390/fullTextXML"; rdfs:comment "All participants in the DeNT and DeCC studies experienced two or more episodes of major depression of at least moderate severity." . _:34e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5537566/fullTextXML"; rdfs:comment "The DeCC is a case–control study that recruited individuals from three UK sites (London, Cardiff and Birmingham)." . _:34e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23164817"; "The protective effect of the obesity-associated rs9939609 A variant in fat mass- and obesity-associated gene on depression."; "PMID:23164817", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23164817+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "As variation in the intron 1 of the fat mass- and obesity-associated (FTO) gene contributes to polygenic obesity, we assessed the possibility that FTO gene may contribute to depression in a cross-sectional multi-ethnic sample of 6561 depression cases and 21,932 controls selected from the EpiDREAM, INTERHEART, DeCC (depression case-control study) and Cohorte Lausannoise (CoLaus) studies." . _:34e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of recurrent major depressive disorder in the United Kingdom, funded by the Medical Research Council, that recruited unrelated patients who had had at least two episodes of major depression of at least moderate severity, diagnosed with the Schedules for Clinical Assessment in Neuropsychiatry (SCAN) interview, at three UK sites (London, Cardiff and Birmingham), together with healthy controls; it is one of the three studies making up the RADIANT depression sample."; "PMID:25903154", "PMID:26526099", "PMID:28187293", "PMID:28233563", "PMID:28642257"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1420; "recurrent depression cases and controls of the study's own 2009 case-control sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19181679+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report the first study investigating this gene in a large, adequately powered, clinical depression case-control sample (n = 1420 cases, 1624 controls)." . _:34eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1624; "recurrent depression cases and controls of the study's own 2009 case-control sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19181679+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report the first study investigating this gene in a large, adequately powered, clinical depression case-control sample (n = 1420 cases, 1624 controls)." . _:34ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DeCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14875, _:genid-371333f489424440b12a13b9d98ced822608-genid14877; , ; ; ; "PGS000200", "PMID:21378990"; "A case-control sample of Icelanders assembled by deCODE genetics for genetic studies of coronary artery disease and myocardial infarction, with cases identified from the Icelandic myocardial infarction registry (MONICA criteria, infarction before age 75) or hospital discharge diagnoses and contacted through deCODE's cardiovascular disease genetics programme, and population controls recruited through other deCODE genetic research programmes."; 6640; 27611; "deCODE CAD", "deCODE_CAD"; ; rdfs:label "deCODE CAD/MI Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14875 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14877 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14875; "coronary artery disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "deCODE CAD 6640/ 27611 54.7 36.3/ 61.9 74.8 (11.8)/ 53.7 (21.5) 27.7 (4.7)/ 27.0 (5.4)† MI: MONICA criteria (<75 yrs) or discharge diagnosis of MI; CAD: PCI or participation in CVD genetics program with self-report of CABG or PCI, or discharge diagnosis of angina pectoris, MI or chronic ischaemic heart disease Population sample 3" . _:34ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14877; "myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "deCODE CAD 6640/ 27611 54.7 36.3/ 61.9 74.8 (11.8)/ 53.7 (21.5) 27.7 (4.7)/ 27.0 (5.4)† MI: MONICA criteria (<75 yrs) or discharge diagnosis of MI; CAD: PCI or participation in CVD genetics program with self-report of CABG or PCI, or discharge diagnosis of angina pectoris, MI or chronic ischaemic heart disease Population sample 3" . _:34ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "Individuals who suffered an MI were identified from a registry of over 10,000 individuals who: a) had an MI before the age of 75 in Iceland in the years 1981 to" . _:34f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The controls used for the study were recruited as a part of various genetic programs at deCODE." . _:34f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000200"; "Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease."; "PMID:23599444" . _:34f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21378990"; "Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease."; "PMID:21378990", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "The deCODE CAD/MI Study was sponsored by NIH grant, National Heart, Lung and Blood Institute R01HL089650-02." . _:34f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of Icelanders assembled by deCODE genetics for genetic studies of coronary artery disease and myocardial infarction, with cases identified from the Icelandic myocardial infarction registry (MONICA criteria, infarction before age 75) or hospital discharge diagnoses and contacted through deCODE's cardiovascular disease genetics programme, and population controls recruited through other deCODE genetic research programmes."; "PMID:19198609", "PMID:21378990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6640; "cases and population controls in CARDIoGRAM discovery analysis (Supplementary Table 1a)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "deCODE CAD 6640/ 27611 54.7 36.3/ 61.9 74.8 (11.8)/ 53.7 (21.5) 27.7 (4.7)/ 27.0 (5.4)† MI: MONICA criteria (<75 yrs) or discharge diagnosis of MI; CAD: PCI or participation in CVD genetics program with self-report of CABG or PCI, or discharge diagnosis of angina pectoris, MI or chronic ischaemic heart disease Population sample 3" . _:34f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27611; "cases and population controls in CARDIoGRAM discovery analysis (Supplementary Table 1a)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "deCODE CAD 6640/ 27611 54.7 36.3/ 61.9 74.8 (11.8)/ 53.7 (21.5) 27.7 (4.7)/ 27.0 (5.4)† MI: MONICA criteria (<75 yrs) or discharge diagnosis of MI; CAD: PCI or participation in CVD genetics program with self-report of CABG or PCI, or discharge diagnosis of angina pectoris, MI or chronic ischaemic heart disease Population sample 3" . _:34f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "deCODE_CAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14887; , , ; "PMID:38820342"; "A prospective observational cohort of kidney and simultaneous pancreas–kidney transplant recipients enrolled at the time of transplantation between 2005 and 2011 at five US and two Canadian transplant centres, the genetic study of the prospective arm of the Long-term Deterioration of Kidney Allograft Function (DeKAF) study, which with DNA from the recipients and from their living or deceased donors studies genetic influences on acute rejection, graft failure and immunosuppressant concentrations and adverse effects."; 3402; "DeKAF Genomics", "Deterioration of Kidney Allograft Function Genomics Cohort", "Genomics of Deterioration of Kidney Allograft Function"; rdfs:label "Deterioration of Kidney Allograft Function Genomics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14887 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14887; "end-stage renal disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6597284/unicode"; rdfs:comment "Participants were included if they had end stage renal dysfunction undergoing kidney or simultaneous kidney-pancreas transplant." . _:34f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3787982/unicode"; rdfs:comment "3,402 kidney or simultaneous kidney-pancreas transplant (SPK) recipients in 5 U.S. and 2 Canadian transplant centers were consented and enrolled at the time of transplantation in the DeKAF Genomics, a prospective observational, study between 2006 and 2011." . _:34f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38820342"; "Polygenic risk score for acute rejection based on donor-recipient non-HLA genotype mismatch."; "PMID:38820342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11142483/fullTextXML"; rdfs:comment "After the weights of the SNPs were estimated in the DeKAF Genomics cohort, the PRS was then validated in another independent cohort, the Genomics of Kidney Transplantation (GEN-03)." . _:34fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of kidney and simultaneous pancreas–kidney transplant recipients enrolled at the time of transplantation between 2005 and 2011 at five US and two Canadian transplant centres, the genetic study of the prospective arm of the Long-term Deterioration of Kidney Allograft Function (DeKAF) study, which with DNA from the recipients and from their living or deceased donors studies genetic influences on acute rejection, graft failure and immunosuppressant concentrations and adverse effects."; "PMID:21206424", "PMID:23879408", "PMID:30801552", "PMID:32080893"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:34fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3402; "kidney or SPK transplant recipients enrolled 2006-2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3787982/"; rdfs:comment "3,402 kidney or simultaneous kidney-pancreas transplant (SPK) recipients in 5 U.S. and 2 Canadian transplant centers were consented and enrolled at the time of transplantation in the DeKAF Genomics, a prospective observational, study between 2006 and 2011." . _:34fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DeKAF Genomics"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14894; , ; ; "PGS001778", "PMID:25855707"; "A Greek breast cancer case-control study conducted in collaboration with the Hellenic Cooperative Oncology Group, in which triple-negative breast cancer cases were enrolled from 1997 to 2010 in hospitals serving Athens, Thessaloniki, Ioannina, Patras and Chania (Crete), with population-based unaffected women of the same age range from Athens as controls; it contributed to the Triple Negative Breast Cancer Consortium."; 413; 95; "DEMOKRITOS", "Hellenic Cooperative Oncology Group"; ; rdfs:label "DEMOKRITOS study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14894 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:34fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14894; "triple negative breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DEMOKRITOS * DEMOKRITOS Greece Triple negative breast cancer cases enrolled from 1997-2010 in hospitals serving geographical areas of Greece, including Athens metropolitan area, Thessaloniki, Ioannina, Patras, and Crete (Chania), in collaboration with the Hellenic Cooperative Oncology Group (HECOG)." . _:34fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DEMOKRITOS * DEMOKRITOS Greece Triple negative breast cancer cases enrolled from 1997-2010 in hospitals serving geographical areas of Greece, including Athens metropolitan area, Thessaloniki, Ioannina, Patras, and Crete (Chania), in collaboration with the Hellenic Cooperative Oncology Group (HECOG)." . _:34ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:35002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25855707"; "Prediction of breast cancer risk based on profiling with common genetic variants."; "PMID:25855707", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/fullTextXML"; rdfs:comment "The DEMOKRITOS study was supported by a Hellenic Cooperative Oncology Group research grant (HR R_BG/04) and the Greek General Secretary for Research and Technology (GSRT) Program, Research Excellence II, funded at 75% by the European Union." . _:35012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Greek breast cancer case-control study conducted in collaboration with the Hellenic Cooperative Oncology Group, in which triple-negative breast cancer cases were enrolled from 1997 to 2010 in hospitals serving Athens, Thessaloniki, Ioannina, Patras and Chania (Crete), with population-based unaffected women of the same age range from Athens as controls; it contributed to the Triple Negative Breast Cancer Consortium."; "PMID:23535729", "PMID:25855707"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 413; "triple-negative breast cancer cases and Athens population controls genotyped on the iCOGS array, after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Regional controls from Athens, Greece were population-based unaffected women of the same age range. 413 95" . _:35032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 95; "triple-negative breast cancer cases and Athens population controls genotyped on the iCOGS array, after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Regional controls from Athens, Greece were population-based unaffected women of the same age range. 413 95" . _:35042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DEMOKRITOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14903; , ; "PGS000777", "PMID:34946808"; "A prospective, longitudinal, observational single-centre study in Kassel, central Germany, of early untreated Parkinson's disease patients and matched healthy controls, aimed at improving early diagnosis and prognosis of Parkinson's disease."; 159; 110; "De Novo Parkinson study", "De Novo Parkinson's cohort", "DeNoPa", "de novo Parkinson's cohort"; ; rdfs:label "De Novo Parkinson Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14903 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14903; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23997153+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cross-sectional analyses of baseline investigations identified significant differences in the NMS Questionnaire (NMSQuest) and the Scopa-AUT Gastrointestinal score in 159 drug-naïve PD patients vs 110 controls." . _:35062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8700849/fullTextXML"; rdfs:comment "DeNoPa is a prospective and longitudinal observational single-center study from Kassel in central Germany, aimed specifically at improving early diagnosis and prognosis of PD." . _:35072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:35082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34946808"; "Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease."; "PMID:34946808", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8700849/fullTextXML"; rdfs:comment "DeNoPa is a prospective and longitudinal observational single-center study from Kassel in central Germany, aimed specifically at improving early diagnosis and prognosis of PD." . _:35092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, longitudinal, observational single-centre study in Kassel, central Germany, of early untreated Parkinson's disease patients and matched healthy controls, aimed at improving early diagnosis and prognosis of Parkinson's disease."; "PMID:23997153", "PMID:34946808"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:350a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 159; "patients and frequency-matched controls at DeNoPa baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23997153+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cross-sectional analyses of baseline investigations identified significant differences in the NMS Questionnaire (NMSQuest) and the Scopa-AUT Gastrointestinal score in 159 drug-naïve PD patients vs 110 controls." . _:350b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 110; "patients and frequency-matched controls at DeNoPa baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23997153+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cross-sectional analyses of baseline investigations identified significant differences in the NMS Questionnaire (NMSQuest) and the Scopa-AUT Gastrointestinal score in 159 drug-naïve PD patients vs 110 controls." . _:350c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DeNoPa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14912; , ; "PMID:24092820"; "A United States case-control study of major depressive disorder whose participants, adults of European ancestry aged 21 to 60 with recurrent or chronic major depressive disorder and controls who had never had a depressive episode, were recruited by a survey research company from a nationally representative survey research panel, assessed by online screening and telephone interview, genotyped genome-wide and profiled by RNA sequencing of whole blood."; 463; 459; 922; "DGN", "DepGenesNetworks", "Depression Genes Networks study", "Depression Genes and Networks cohort", "Depression Genes and Networks study"; rdfs:label "Depression Genes and Networks"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:350d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14912; "major depressive disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3875855/"; rdfs:comment "The recruitment procedure of the Depression Genes and Networks study (National Institute of Mental Health Grant 5RC2MH089916) was designed to collect samples of individuals with and without major depressive disorder, ages 21–60, from a survey research panel that was broadly representative of the United States population (Supplemental Material)." . _:350e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3875855/"; rdfs:comment "The Depression Genes and Networks cohort is comprised of individuals of European ancestry within the United States." . _:350f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24092820"; "Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals."; "PMID:24092820", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3875855/"; rdfs:comment "We have sequenced RNA from whole blood of 922 genotyped individuals from the Depression Genes and Networks cohort (Methods), all of European ancestry." . _:35102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United States case-control study of major depressive disorder whose participants, adults of European ancestry aged 21 to 60 with recurrent or chronic major depressive disorder and controls who had never had a depressive episode, were recruited by a survey research company from a nationally representative survey research panel, assessed by online screening and telephone interview, genotyped genome-wide and profiled by RNA sequencing of whole blood."; "PMID:24092820", "PMID:24296977"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 463; "analysed participants after ancestry, medical and genotyping/RNA quality exclusions"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5404932/"; rdfs:comment "After exclusions for genotypically non-European ancestry, unusual medical comorbidities and RNA-seq and GWAS quality control (QC) analyses, 922 individuals were included in further analyses (463 cases and 459 controls)." . _:35122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 459; "analysed participants after ancestry, medical and genotyping/RNA quality exclusions"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5404932/"; rdfs:comment "After exclusions for genotypically non-European ancestry, unusual medical comorbidities and RNA-seq and GWAS quality control (QC) analyses, 922 individuals were included in further analyses (463 cases and 459 controls)." . _:35132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 922; "analysed participants after ancestry, medical and genotyping/RNA quality exclusions"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5404932/"; rdfs:comment "After exclusions for genotypically non-European ancestry, unusual medical comorbidities and RNA-seq and GWAS quality control (QC) analyses, 922 individuals were included in further analyses (463 cases and 459 controls)." . _:35142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DGN"; . _:35152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DepGenesNetworks"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14922; , ; "PGS000737", "PMID:17293876"; "A French prospective cohort of men and women aged 30 to 64 years, volunteers insured by the French social security system who attended ten of its health examination centres in west-central France, followed for nine years to clarify the development of the insulin resistance syndrome."; 5153; "D.E.S.I.R.", "DESIR", "Data from an Epidemiological Study on the Insulin Resistance syndrome", "Data from an Epidemiological Study on the Insulin Resistance syndrome study", "Data from the Epidemiological Study on the Insulin Resistance Syndrome", "Data of an Epidemiological Study on the Insulin Resistance syndrome study", "Epidemiological Study on the Insulin Resistance syndrome study"; ; rdfs:label "Data from an Epidemiological Study on the Insulin Resistance Syndrome"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14922; "insulin resistance syndrome"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; rdfs:comment "Subjects were men and women aged from 30 to 64 years who participated in a 9- year follow-up study that aims to clarify the development of the insulin resistance syndrome." . _:35172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28597074+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The predictive performance of the machine learning models and marker panels was evaluated using repeated nested cross-validation, and replicated in an independent French cohort of 1044 individuals including 231 participants who progressed to type 2 diabetes during a 9 year follow-up period in the DESIR (Data from an Epidemiological Study on the Insulin Resistance Syndrome) study." . _:35182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000737"; "Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores."; "PMID:31504448" . _:35192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17293876"; "A genome-wide association study identifies novel risk loci for type 2 diabetes."; "PMID:17293876", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; rdfs:comment "The control subjects were participants in the Data from an Epidemiological Study on the Insulin Resistance syndrome (DESIR) program." . _:351a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French prospective cohort of men and women aged 30 to 64 years, volunteers insured by the French social security system who attended ten of its health examination centres in west-central France, followed for nine years to clarify the development of the insulin resistance syndrome."; "PMID:17293876"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:351b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5153; "DESIR participants with baseline data"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature05616/MediaObjects/41586_2007_BFnature05616_MOESM286_ESM.pdf"; rdfs:comment "A total of 5,153 subjects had data available at baseline (men/women ratio: 49.6/50.4%; age: 47.2 ± 10.0y., body mass index (BMI): 24.7 ± 3.8 kg/m²)." . _:351c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "D.E.S.I.R."; . _:351d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DESIR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14931; , ; "PGS000351", "PMID:22267197"; "A Dutch breast cancer case-control study whose cases are BRCA1/2 mutation-negative familial bilateral breast cancer patients selected from five clinical genetics centres (Erasmus University Medical Center/Daniel den Hoed, the Netherlands Cancer Institute, Leiden University Medical Center, University Medical Center Utrecht and VU University Medical Center), with patient recruitment organised by the Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), and whose controls are women aged 55 or over without breast cancer from the Rotterdam Study; it was genotyped for genome-wide association studies of breast cancer."; 464; 3255; "DFBBCS"; ; rdfs:label "Dutch Familial Bilateral Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14931 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:351e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14931; "familial bilateral breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DFBBCS Netherlands BRCA1/2 mutation negative familial bilateral breast cancer patients selected from five clinical genetics centers; Erasmus University Medical Center/Daniel den Hoed, The Netherlands Cancer Institute, Leiden University Medical Center, University Medical Center Utrecht, and VU University Medical Center." . _:351f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DFBBCS Netherlands BRCA1/2 mutation negative familial bilateral breast cancer patients selected from five clinical genetics centers; Erasmus University Medical Center/Daniel den Hoed, The Netherlands Cancer Institute, Leiden University Medical Center, University Medical Center Utrecht, and VU University Medical Center." . _:35202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000351"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:35212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22267197"; "Genome-wide association analysis identifies three new breast cancer susceptibility loci."; "PMID:22267197", "https://www.nature.com/articles/ng.1049"; rdfs:comment "HEBON organized the patient recruitment and data and sample collection for the DFBBCS GWAS." . _:35222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch breast cancer case-control study whose cases are BRCA1/2 mutation-negative familial bilateral breast cancer patients selected from five clinical genetics centres (Erasmus University Medical Center/Daniel den Hoed, the Netherlands Cancer Institute, Leiden University Medical Center, University Medical Center Utrecht and VU University Medical Center), with patient recruitment organised by the Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), and whose controls are women aged 55 or over without breast cancer from the Rotterdam Study; it was genotyped for genome-wide association studies of breast cancer."; "PMID:22267197", "PMID:23535729"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 464; "GWAS cases and controls after quality control; Supplementary Table 1"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DFBBCS Netherlands BRCA1/2 mutation negative familial bilateral breast cancer patients selected from five clinical genetics centers; Erasmus University Medical Center/Daniel den Hoed, The Netherlands Cancer Institute, Leiden University Medical Center, University Medical Center Utrecht, and VU University Medical Center. Controls were from the Rotterdam study, and are 55 years or older at the time of inclusion. For this study females were selected and breast cancer cases were excluded. Illumina 610k (cases) Illumina 550k (controls) 464 3255" . _:35242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3255; "GWAS cases and controls after quality control; Supplementary Table 1"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DFBBCS Netherlands BRCA1/2 mutation negative familial bilateral breast cancer patients selected from five clinical genetics centers; Erasmus University Medical Center/Daniel den Hoed, The Netherlands Cancer Institute, Leiden University Medical Center, University Medical Center Utrecht, and VU University Medical Center. Controls were from the Rotterdam study, and are 55 years or older at the time of inclusion. For this study females were selected and breast cancer cases were excluded. Illumina 610k (cases) Illumina 550k (controls) 464 3255" . _:35252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFBBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14940; , ; "PMID:23029024"; "A Dutch colorectal cancer case-control series, whose cases had a family history of cancer and whose controls were population-based, that was one of the eight case-control series genotyped for the 11q23.1 risk variant rs3802842 in a 2008 study of colorectal cancer risk."; 783; 664; "DFCCS"; rdfs:label "Dutch Familial Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14940 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14940; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3445543/"; rdfs:comment "Pittman AM (DFCCS) 2008 Netherlands European Replication KASPar 783/664 0.90 53.4 (13.4) Yes 0.61 51.1 (11.3) Population based" . _:35272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3445543/"; rdfs:comment "Pittman AM (DFCCS) 2008 Netherlands European Replication KASPar 783/664" . _:35282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23029024"; "Replication study in Chinese population and meta-analysis supports association of the 11q23 locus with colorectal cancer."; "PMID:23029024", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3445543/"; rdfs:comment "Pittman AM (DFCCS) 2008 Netherlands European Replication KASPar 783/664 0.90 53.4 (13.4) Yes 0.61 51.1 (11.3) Population based" . _:35292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch colorectal cancer case-control series, whose cases had a family history of cancer and whose controls were population-based, that was one of the eight case-control series genotyped for the 11q23.1 risk variant rs3802842 in a 2008 study of colorectal cancer risk."; "PMID:18753146", "PMID:23029024"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:352a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 783; "DFCCS replication cases and population controls in the 2008 study, as tabulated in 2012"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3445543/"; rdfs:comment "Pittman AM (DFCCS) 2008 Netherlands European Replication KASPar 783/664 0.90 53.4 (13.4) Yes 0.61 51.1 (11.3) Population based" . _:352b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 664; "DFCCS replication cases and population controls in the 2008 study, as tabulated in 2012"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3445543/"; rdfs:comment "Pittman AM (DFCCS) 2008 Netherlands European Replication KASPar 783/664 0.90 53.4 (13.4) Yes 0.61 51.1 (11.3) Population based" . _:352c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFCCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. In every paper the PGS Catalog records the id DFCI in, it is the Dana-Farber Cancer Institute's centre in CIMBA, BRCA1 and BRCA2 carriers that CIMBA's study list names only after the institution (PMID:28346442); the carriers are covered by CIMBA (COHO:0000901). The Catalog's name, Harvard Breast Cancer SPORE Blood Repository, appears in none of the papers. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Harvard Breast Cancer SPORE Blood Repository"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14948; , ; ; "PGS000083", "PMID:25086665"; "A case series of patients with pathologically confirmed pancreatic cancer identified sequentially at the outpatient gastrointestinal cancer clinic of the Dana-Farber Cancer Institute in Boston, United States, which contributed cases to the PanScan III genome-wide association study of pancreatic cancer."; 360; "DFCI", "DFCI-GCC", "Dana-Farber Cancer Institute - Gastrointestinal Cancer Clinic", "Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute"; ; rdfs:label "Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14948 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:352d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14948; "pancreatic cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3052/MediaObjects/41588_2014_BFng3052_MOESM19_ESM.pdf"; rdfs:comment "Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute Study (DFCI-GCC) 360 USA Pathologically- confirmed cases sequentially identified from an outpatient gastrointestinal cancer clinic" . _:352e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4191666/"; rdfs:comment "Geographic region was defined as REGION_US (United States): AgHealth, CPS-II, DFCI, HPFS, MEC, NHS, NYU-WHS, PHS, PLCO, SELECT, VITAL, WHI; REGION_CNE (Central and Northern Europe): ATBC, EPIC, PANDoRA-Heidelberg, MCCS (Melbourne); and REGION_SE (Southern Europe): SBCS (Spain controls), PANKRAS-II (cases)." . _:352f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000083"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:35302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25086665"; "Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer."; "PMID:25086665", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4191666/"; rdfs:comment "The new case-based studies were the Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute (DFCI-GCC), Spanish Pancreatic Cancer Study PANKRAS-II59, and PANDoRA-Heidelberg pancreatic cancer case-control study10." . _:35312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case series of patients with pathologically confirmed pancreatic cancer identified sequentially at the outpatient gastrointestinal cancer clinic of the Dana-Farber Cancer Institute in Boston, United States, which contributed cases to the PanScan III genome-wide association study of pancreatic cancer."; "PMID:25086665", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3052/MediaObjects/41588_2014_BFng3052_MOESM19_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 360; "pancreatic cancer cases in the PanScan III stage 1 analysis (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3052/MediaObjects/41588_2014_BFng3052_MOESM19_ESM.pdf"; rdfs:comment "Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute Study (DFCI-GCC) 360 USA Pathologically- confirmed cases sequentially identified from an outpatient gastrointestinal cancer clinic" . _:35332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFCI"; . _:35342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFCI-GCC"; . a owl:NamedIndividual, ; , , ; "PMID:23864233"; "A prospective cohort of retired employees of the Dongfeng Motor Corporation, a large state-owned car manufacturer in Shiyan, Hubei province, China, who completed questionnaires, medical examinations and blood sampling at a baseline survey in 2008–2010; further retirees were recruited at the first follow-up survey in 2013, and participants are re-surveyed about every five years."; 41129; "DFTJ", "DFTJ cohort", "Dongfeng-Tongji Cohort Study", "Dongfeng-Tongji Cohort study", "Dongfeng-Tongji cohort", "Tongji-Dongfeng cohort study"; rdfs:label "Dongfeng-Tongji cohort study"@en . _:35352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42751891+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study included 1122 participants with newly diagnosed T2D from the Dongfeng-Tongji Cohort study in China." . _:35362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23864233"; "Association between serum uric acid and the metabolic syndrome among a middle- and old-age Chinese population."; "PMID:23864233", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23864233+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A cross-sectional study was performed, including a total of 27,009 subjects (23,345 subjects having uric acid data) from the Dongfeng-Tongji Cohort study." . _:35372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of retired employees of the Dongfeng Motor Corporation, a large state-owned car manufacturer in Shiyan, Hubei province, China, who completed questionnaires, medical examinations and blood sampling at a baseline survey in 2008–2010; further retirees were recruited at the first follow-up survey in 2013, and participants are re-surveyed about every five years."; "PMID:35939299", "PMID:37461090", "PMID:37960242", "PMID:38728232"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 41129; "retirees with baseline information (2008-2010 baseline plus 2013 new recruits)"; "PMID:37960242"; rdfs:comment "During the first follow-up in 2013, 14,120 retired workers were newly recruited, consequently, there was a total number of 41,129 participants with baseline information." . _:35392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFTJ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14962; , ; ; "PMID:16964827"; "A nationwide, prospective, population-based cohort of all people with HIV aged 16 or older treated at Denmark's specialised HIV centres since 1 January 1995, which keeps enrolling newly diagnosed people and immigrants with HIV and records demographic, clinical and laboratory data on their infection and care, linkable to the Danish national registers."; 4025; "DHCS", "DHIVCS", "Danish HIV cohort study"; rdfs:label "Danish HIV Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14962 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:353a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14962; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3143183/fullTextXML"; rdfs:comment "HIV-infected patients were identified from the Danish HIV Cohort Study, which includes all HIV-infected patients treated in Denmark's eight specialized HIV centers since January 1, 1995 [9]." . _:353b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16051569+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Demographics of HIV-1 infection in Denmark: results from the Danish HIV Cohort Study." . _:353c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16964827"; "Declining prevalence of HIV-infected individuals at risk of transmitting drug-resistant HIV in Denmark during 1997-2004."; "PMID:16964827", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16964827+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study population included all 4,025 patients from The Danish HIV Cohort Study seen during the period 1995-2004." . _:353d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide, prospective, population-based cohort of all people with HIV aged 16 or older treated at Denmark's specialised HIV centres since 1 January 1995, which keeps enrolling newly diagnosed people and immigrants with HIV and records demographic, clinical and laboratory data on their infection and care, linkable to the Danish national registers."; "PMID:21799935", "PMID:22984529", "PMID:38966335"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:353e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4025; "all cohort patients seen 1995-2004"; "PMID:16964827"; rdfs:comment "The study population included all 4,025 patients from The Danish HIV Cohort Study seen during the period 1995-2004." . _:353f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHCS"; . _:35402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHIVCS"; . a owl:NamedIndividual, ; , ; "PMID:29120361"; "A national administrative register of the services provided under Denmark's public health insurance by the contractors of primary health care (general practitioners, practising specialists, dentists, physiotherapists, psychologists and others), which covers everyone living in Denmark with data from 1990 and records the citizen, the provider and the service but little clinical information; collected for administrative and research purposes, it is linked by personal identification number to the other national registers."; "DHSR", "Danish Health Service Register", "Danish National Health Service Register for Primary Care", "NHSR", "National Danish Health Service Register"; rdfs:label "Danish National Health Service Register"@en . _:35412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21775348+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The register covers everyone living in Denmark and data is available from 1990." . _:35422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29120361"; "Variation in Point-of-Care Testing of HbA1c in Diabetes Care in General Practice."; "PMID:29120361", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5708002/fullTextXML"; rdfs:comment "The fee for POCT of HbA1c registered in the Danish Health Service Register was used to construct a dichotomous proxy variable for patients who received either one or more POCT or no POCT." . _:35432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national administrative register of the services provided under Denmark's public health insurance by the contractors of primary health care (general practitioners, practising specialists, dentists, physiotherapists, psychologists and others), which covers everyone living in Denmark with data from 1990 and records the citizen, the provider and the service but little clinical information; collected for administrative and research purposes, it is linked by personal identification number to the other national registers."; "PMID:21775348", "PMID:38654257", "PMID:41835011"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DHSR"; . _:35452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHSR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14975, _:genid-371333f489424440b12a13b9d98ced822608-genid14977, _:genid-371333f489424440b12a13b9d98ced822608-genid14979; , ; ; "PMID:32424353"; "A multicentre prospective cohort of women under 75 with grade I–III invasive primary breast cancer, recruited 9–15 months after diagnosis from 56 hospitals in the United Kingdom, who gave clinical, dietary, lifestyle, complementary-therapy and quality-of-life data and blood and urine samples every year for five years. Run from the University of Westminster, London, and funded by the charity Against Breast Cancer, it studies how dietary phytoestrogens and other diet and lifestyle factors relate to breast cancer recurrence and survival."; 3159; "DCL", "DIETCOMPLYF", "DietCompLyf", "DietCompLyf breast cancer survival study", "DietCompLyf study", "The Role of Diet, Complementary Treatment and Lifestyle in Breast Cancer Survival", "The Role of Diet, Complementary Treatments & Lifestyle in Breast Cancer Survival"; rdfs:label "DietCompLyf Breast Cancer Survival Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14975 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14977 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid14979 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14975; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23664318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "3159 women with grades I-III breast cancer were recruited 9-15 months post-diagnosis from 56 UK hospitals." . _:35472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14977; "diet and lifestyle factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23664318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "DietCompLyf is a multi-centre prospective study designed to investigate associations between phytoestrogens - naturally occurring plant compounds with oestrogenic properties - and other diet and lifestyle factors with breast cancer recurrence and survival." . _:35482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14979; "phytoestrogens"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23664318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "DietCompLyf is a multi-centre prospective study designed to investigate associations between phytoestrogens - naturally occurring plant compounds with oestrogenic properties - and other diet and lifestyle factors with breast cancer recurrence and survival." . _:35492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23664318+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "3159 women with grades I-III breast cancer were recruited 9-15 months post-diagnosis from 56 UK hospitals." . _:354a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "DietCompLyf Breast Cancer Survival Study" . _:354b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort of women under 75 with grade I–III invasive primary breast cancer, recruited 9–15 months after diagnosis from 56 hospitals in the United Kingdom, who gave clinical, dietary, lifestyle, complementary-therapy and quality-of-life data and blood and urine samples every year for five years. Run from the University of Westminster, London, and funded by the charity Against Breast Cancer, it studies how dietary phytoestrogens and other diet and lifestyle factors relate to breast cancer recurrence and survival."; "PMID:23664318", "PMID:27010749", "https://clinicaltrials.gov/api/v2/studies/NCT00691509", "https://www.againstbreastcancer.org.uk/our-research/prevention/dietcomplyf-study-diet-and-lifestyle"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:354c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3159; "women with breast cancer recruited from 56 UK hospitals"; "PMID:23664318"; rdfs:comment "3159 women with grades I-III breast cancer were recruited 9-15 months post-diagnosis from 56 UK hospitals." . _:354d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DCL"; . _:354e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIETCOMPLYF"; . _:354f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DietCompLyf"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid14988; , ; "PMID:42231601"; "The prospective registry study of the US Drug-Induced Liver Injury Network (DILIN), which the National Institute of Diabetes and Digestive and Kidney Diseases set up in 2003. Since September 2004 it has enrolled children aged 2 or over and adults referred to the network's clinical sites within 6 months of a suspected liver injury caused by a prescription or over-the-counter drug or a herbal or dietary supplement. Causality is adjudicated by expert review, clinical data and blood (DNA), serum and some tissue samples are collected, and confirmed cases are followed for at least 6 months, in order to study the clinical, genetic, environmental and immunological risk factors and the outcomes of drug-induced liver injury."; 2622; "A Multi-Center, Longitudinal Study of Drug-and CAM-Induced Liver Injury", "DILIN", "DILIN - Prospective Study", "DILIN Prospective Study", "DILIN prospective study", "Drug Induced Liver Injury Network", "Drug-Induced Liver Injury Network"; rdfs:label "Drug-Induced Liver Injury Network Prospective Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid14988 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid14988; "drug-induced liver injury"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3637941/unicode"; rdfs:comment "The DILIN study aims to do this by creating within 6 months of onset a registry and tissue bank from people who have experienced liver injury due to prescription and over-the-counter drugs as well as herbal products." . _:35512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19132805+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "DILIN is a multicentre research network charged with improving our understanding of the aetiologies, risk factors and outcomes of DILI in the US." . _:35522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42231601"; "Liver Injury From Medications Used for Treating Inflammatory Bowel Disease: The Drug-Induced Liver Injury Network Experience."; "PMID:42231601", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42231601+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using the Drug-Induced Liver Injury Network (DILIN) prospective study, we evaluated definite, highly likely, or probable DILI attributed to IBD therapies, including use for non-IBD indications (but excluding corticosteroids)." . _:35532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The prospective registry study of the US Drug-Induced Liver Injury Network (DILIN), which the National Institute of Diabetes and Digestive and Kidney Diseases set up in 2003. Since September 2004 it has enrolled children aged 2 or over and adults referred to the network's clinical sites within 6 months of a suspected liver injury caused by a prescription or over-the-counter drug or a herbal or dietary supplement. Causality is adjudicated by expert review, clinical data and blood (DNA), serum and some tissue samples are collected, and confirmed cases are followed for at least 6 months, in order to study the clinical, genetic, environmental and immunological risk factors and the outcomes of drug-induced liver injury."; "PMID:19132805", "https://clinicaltrials.gov/api/v2/studies/NCT00345930"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2622; "participants with suspected DILI enrolled 2004-2024"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12133418/"; rdfs:comment "Between 2004 and 2024, a total of 2622 participants with suspected DILI were enrolled in the DILIN prospective study." . _:35552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DILIN"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. In every paper the PGS Catalog records the id DKFZ in, it is the German Cancer Research Center's centre in CIMBA, BRCA1 and BRCA2 carriers that CIMBA's study list names only after the institution (PMID:28346442); the carriers are covered by CIMBA (COHO:0000901). Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Deutsches Krebsforschungszentrum (German Cancer Research Center)"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:30060062"; "A genetic study population of long-lived Danes, nonagenarians and centenarians drawn from the Longitudinal Study of Danish Centenarians, the Danish 1905 and 1911–12 Birth Cohort Studies, the Study of Danish Old Sibs and the Longitudinal Study of Ageing Danish Twins, used as the long-lived cases of studies of the genetics of human longevity."; 1120; 2149; "DKLS", "DLS", "Danish longevity study"; rdfs:label "Danish Longevity Study"@en . _:35562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6298189/"; rdfs:comment "We used three additional studies from the United States (the Health and Retirement Study [HRS] (34)), Denmark (the Danish Longevity Study (35)), and Japan (the Japanese Centenarian Study (6)) for replication." . _:35572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30060062"; "APOE Alleles and Extreme Human Longevity."; "PMID:30060062", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6298189/"; rdfs:comment "We used three additional studies from the United States (the Health and Retirement Study [HRS] (34)), Denmark (the Danish Longevity Study (35)), and Japan (the Japanese Centenarian Study (6)) for replication." . _:35582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study population of long-lived Danes, nonagenarians and centenarians drawn from the Longitudinal Study of Danish Centenarians, the Danish 1905 and 1911–12 Birth Cohort Studies, the Study of Danish Old Sibs and the Longitudinal Study of Ageing Danish Twins, used as the long-lived cases of studies of the genetics of human longevity."; "PMID:24688116", "PMID:26446717", "PMID:30060062"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1120; "long-lived cases and comparison controls in the APOE replication analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6298189/"; rdfs:comment "Danish Cases 1,120 1910 (1895–1918) 45 101 (96–110) Controls 2,149 1941 (1902–1952) 43 75 (47–100)" . _:355a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2149; "long-lived cases and comparison controls in the APOE replication analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6298189/"; rdfs:comment "Danish Cases 1,120 1910 (1895–1918) 45 101 (96–110) Controls 2,149 1941 (1902–1952) 43 75 (47–100)" . _:355b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DKLS"; . _:355c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15002; , ; "PGS000911", "PMID:29531354"; "A UK case-control collection for genetic studies of lacunar stroke, in which Caucasian patients aged 70 or under with a clinical lacunar syndrome and a compatible subcortical infarct on MRI were recruited from 72 specialist stroke centres throughout the UK between 2002 and 2012, and unrelated Caucasian controls free of cerebrovascular disease were sampled, stratified by age and sex, from general practice lists in the same areas."; 1029; "DNA Lacunar", "DNA Lacunar 2", "DNA_Lacunar", "UK DNA Lacunar Stroke studies 1 and 2", "UK Young Lacunar DNA Study", "Young Lacunar DNA", "Young Lacunar Stroke DNA Resource"; ; rdfs:label "UK Young Lacunar Stroke DNA Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15002 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:355d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15002; "lacunar stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "A total of 1,029 Caucasian patients with lacunar stroke, aged ≤70 years, were recruited from 72 specialist’s stroke centres throughout the UK between 2002 and 2012, as part of the Young Lacunar Stroke DNA Resource." . _:355e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "UK - young lacunar stroke DNA resource A total of 1,029 Caucasian patients with lacunar stroke, aged ≤70 years, were recruited from 72 specialist’s stroke centres throughout the UK between 2002 and 2012, as part of the Young Lacunar Stroke DNA Resource." . _:355f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000911"; "Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals With Atrial Fibrillation."; "PMID:34029116" . _:35602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29531354"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "A total of 1,029 Caucasian patients with lacunar stroke, aged ≤70 years, were recruited from 72 specialist’s stroke centres throughout the UK between 2002 and 2012, as part of the Young Lacunar Stroke DNA Resource." . _:35612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK case-control collection for genetic studies of lacunar stroke, in which Caucasian patients aged 70 or under with a clinical lacunar syndrome and a compatible subcortical infarct on MRI were recruited from 72 specialist stroke centres throughout the UK between 2002 and 2012, and unrelated Caucasian controls free of cerebrovascular disease were sampled, stratified by age and sex, from general practice lists in the same areas."; "PMID:29531354"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1029; "lacunar stroke patients recruited in 2002-2012; control recruitment total not reported"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "A total of 1,029 Caucasian patients with lacunar stroke, aged ≤70 years, were recruited from 72 specialist’s stroke centres throughout the UK between 2002 and 2012, as part of the Young Lacunar Stroke DNA Resource." . _:35632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA Lacunar"; . _:35642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DNA_Lacunar"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. DNMUV is the PGS Catalog's id for the Department of Neurology of the Medical University of Vienna (Austria), a hospital department, and the Catalog records no released score or sample set that uses it, so no study sample can be identified behind it. The papers found by name each describe a different unnamed set of the department's patients (E270.1, E270.4, E270.7, E270.10, E270.13; abstracts of PMID:23841974, 25861769, 29987508, 36630660, 34711480). No COHO term matches; the review's MUV ('Medical University of Vienna', COHO:0002100, placeholder) is the parent institution, a CIMBA site label, and not the same thing. Reconsider if a released PGS score ever cites DNMUV. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Department of Neurology, Medical University of Vienna"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15011; , ; "PMID:21131975"; "A case–control study of renal cell carcinoma in the region of Nijmegen, the Netherlands, run by Radboud University Nijmegen Medical Centre with the Comprehensive Cancer Centre East, whose cases of European descent form a hospital-based series (patients of the hospital's outpatient urology clinic who had given blood and lifestyle data from 1999 onwards for studies of gene–environment interactions in urological disease and were found through the cancer registry to have renal cell carcinoma) and a population-based series recruited in 2009 through the regional cancer registry (patients diagnosed in 1995–2008 before the age of 75). Its controls are participants of the population-based Nijmegen Biomedical Study."; 748; 1832; "Dutch", "Dutch RCC Study"; rdfs:label "Dutch Renal Cell Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15011 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15011; "renal cell carcinoma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; rdfs:comment "Dutch RCC Study The Dutch RCC series (N=748) consists of a population-based series (N=417) and a hospital-based series (N=331)50 ." . _:35662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21131975"; "Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3."; "PMID:21131975", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3049257/"; rdfs:comment "Samples include subjects from three replication studies: the MD Anderson Renal Cell Cancer Study, the Dutch Renal Cell Cancer Study, and the IARC Replication Study (Supplementary note)." . _:35672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of renal cell carcinoma in the region of Nijmegen, the Netherlands, run by Radboud University Nijmegen Medical Centre with the Comprehensive Cancer Centre East, whose cases of European descent form a hospital-based series (patients of the hospital's outpatient urology clinic who had given blood and lifestyle data from 1999 onwards for studies of gene–environment interactions in urological disease and were found through the cancer registry to have renal cell carcinoma) and a population-based series recruited in 2009 through the regional cancer registry (patients diagnosed in 1995–2008 before the age of 75). Its controls are participants of the population-based Nijmegen Biomedical Study."; "PMID:21131975", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 748; "RCC cases and NBS controls genotyped for replication (no total stated), 2009"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; rdfs:comment "Dutch Renal Cell Cancer Study (Dutch) 50-52 Radboud University/Comp rehensive Cancer Centre East, NL Case series Population/ho spital based 1999- 2009 - - 748 1,832*** TaqMan TaqMan RUNMC RUNMC" . _:35692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1832; "RCC cases and NBS controls genotyped for replication (no total stated), 2009"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; rdfs:comment "Dutch Renal Cell Cancer Study (Dutch) 50-52 Radboud University/Comp rehensive Cancer Centre East, NL Case series Population/ho spital based 1999- 2009 - - 748 1,832*** TaqMan TaqMan RUNMC RUNMC" . _:356a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dutch"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15018; , ; "PGS003727", "PMID:38938725"; "A prospective cohort drawn from the Dutch national cascade-screening programme for heterozygous familial hypercholesterolaemia, which enrolled participants between 1994 and 2013: adult carriers of a heterozygous familial hypercholesterolaemia variant free of atherosclerotic cardiovascular disease at enrolment who consented to genetic analysis and linkage of their health records, together with relatives from the same families confirmed as non-carriers and matched to them by age and sex, followed for incident coronary artery disease."; 1315; 1315; "Dutch HeFH", "Dutch HeFH Cohort", "The Dutch heterozygous familial hypercholesterolemia screening program"; ; rdfs:label "Dutch HeFH cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15018 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:356b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15018; "heterozygous familial hypercholesterolemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38938725+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from a prospective cohort study of 1,315 individuals who carried a HeFH variant and 1,315 matched family noncarriers derived from a nationwide screening program in the Netherlands, with subsequent replication in 151,009 participants of the UK Biobank." . _:356c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38938725+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from a prospective cohort study of 1,315 individuals who carried a HeFH variant and 1,315 matched family noncarriers derived from a nationwide screening program in the Netherlands, with subsequent replication in 151,009 participants of the UK Biobank." . _:356d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003727"; "Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia."; "PMID:38938725" . _:356e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38938725"; "Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia."; "PMID:38938725", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38938725+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from a prospective cohort study of 1,315 individuals who carried a HeFH variant and 1,315 matched family noncarriers derived from a nationwide screening program in the Netherlands, with subsequent replication in 151,009 participants of the UK Biobank." . _:356f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort drawn from the Dutch national cascade-screening programme for heterozygous familial hypercholesterolaemia, which enrolled participants between 1994 and 2013: adult carriers of a heterozygous familial hypercholesterolaemia variant free of atherosclerotic cardiovascular disease at enrolment who consented to genetic analysis and linkage of their health records, together with relatives from the same families confirmed as non-carriers and matched to them by age and sex, followed for incident coronary artery disease."; "PMID:38938725"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1315; "analysed HeFH carriers and matched family noncarriers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38938725+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from a prospective cohort study of 1,315 individuals who carried a HeFH variant and 1,315 matched family noncarriers derived from a nationwide screening program in the Netherlands, with subsequent replication in 151,009 participants of the UK Biobank." . _:35712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1315; "analysed HeFH carriers and matched family noncarriers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38938725+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from a prospective cohort study of 1,315 individuals who carried a HeFH variant and 1,315 matched family noncarriers derived from a nationwide screening program in the Netherlands, with subsequent replication in 151,009 participants of the UK Biobank." . _:35722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Dutch HeFH"; . a owl:NamedIndividual, ; "PMID:20881960"; "Two case-control panels of self-described white adults sampled from the tails of the height distribution (the 5th to 10th and the 90th to 95th percentiles), one of European Americans born in the United States and one of people born in Poland, studied under the approval of the Institutional Review Board of Children's Hospital, Boston, and genotyped to validate variants associated with adult height."; 3207; "EAPEH", "European American and Poland Extreme Height panels"; rdfs:label "European American and Polish height panels"@en . _:35732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20881960"; "Hundreds of variants clustered in genomic loci and biological pathways affect human height."; "PMID:20881960", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09410/MediaObjects/41586_2010_BFnature09410_MOESM23_ESM.pdf"; rdfs:comment "Association results for 33 SNPs selected randomly among the 180 SNPs that reached genome-wide significance (P=5x10-8 ) in the Stage 1 meta-analysis and genotyped in European American (N=2,181) and Poland (N=1,009) panels at tails of height distribution." . _:35742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Two case-control panels of self-described white adults sampled from the tails of the height distribution (the 5th to 10th and the 90th to 95th percentiles), one of European Americans born in the United States and one of people born in Poland, studied under the approval of the Institutional Review Board of Children's Hospital, Boston, and genotyped to validate variants associated with adult height."; "PMID:17767157", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09410/MediaObjects/41586_2010_BFnature09410_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3207; "combined extreme-height adult panels genotyped in the 2007 HMGA2 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3086278/"; rdfs:comment "We genotyped an additional 29,098 individuals of European ancestry from five studies, including three population-based studies (15,167 adults and 6,827 children), a type 2 diabetes case-control set (3,897 adults) and a collection of 3,207 adults sampled from the near-extremes of the height distribution (the 5th to 10th and 90th to 95th percentiles; Supplementary Table 1)." . _:35762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAPEH"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. EAS, the PGS Catalog cohort id used for the type 2 diabetes score PGS000020 (Läll et al. 2016), is the DIAGRAM consortium’s EAS, which its 2012 meta-analysis (PMID:22885922) describes as funded by the British Heart Foundation (RG/98002) and genotyped in Edinburgh, the funding of the Edinburgh Artery Study (PMC5841831: EAS (Edinburgh Artery Study). EAS is funded by the British Heart Foundation (Programme Grant RG/98002)); the Catalog also lists the study under its own name as EAS-Edinburgh. Replaced by COHO:0001677, Edinburgh Artery Study, which carries the acronym EAS. Found by the review of 2026-09-24."@en; rdfs:label "obsolete EAS"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15031; , ; "GCST005047", "PGS000020"; "A study of peripheral arterial disease in the general population of Edinburgh, Scotland, based on an age-stratified sample of 1,592 men and women aged 55 to 74 selected from the age-sex registers of ten general practices in the city and assessed by questionnaire and ankle brachial pressure index, funded by the British Heart Foundation and genotyped for genetic studies such as the DIAGRAM consortium’s meta-analysis of type 2 diabetes and the UCLEB consortium’s Mendelian randomisation analyses."; 1592; "EAS", "EAS-Edinburgh", "Edinburgh artery study"; , ; rdfs:label "Edinburgh Artery Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15031 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15031; "peripheral arterial disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1917239+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Edinburgh Artery Study: prevalence of asymptomatic and symptomatic peripheral arterial disease in the general population." . _:35782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1917239%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Edinburgh Artery Study: prevalence of asymptomatic and symptomatic peripheral arterial disease in the general population." . _:35792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST005047"; "Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes."; "PMID:22885922", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "EAS. The EAS was funded by the British Heart Foundation (RG/98002). Genotyping was funded by a project grant from the Chief Scientist Office, Scotland (CZB/4/672), and undertaken at the Wellcome Trust Clinical Research Facility in Edinburgh" . _:357a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000020"; "Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores."; "PMID:27513194" . _:357b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of peripheral arterial disease in the general population of Edinburgh, Scotland, based on an age-stratified sample of 1,592 men and women aged 55 to 74 selected from the age-sex registers of ten general practices in the city and assessed by questionnaire and ankle brachial pressure index, funded by the British Heart Foundation and genotyped for genetic studies such as the DIAGRAM consortium’s meta-analysis of type 2 diabetes and the UCLEB consortium’s Mendelian randomisation analyses."; "PMID:1917239", "PMID:22885922", "PMID:25979724"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:357c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1592; "men and women aged 55-74 assessed at baseline"; "PMID:1917239"; rdfs:comment "Arterial disease was assessed in 1592 participants by means of the WHO questionnaire on intermittent claudication and measurement of the ankle brachial systolic pressure index (ABPI) and change in ankle systolic pressure during reactive hyperaemia." . _:357d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAS"; . _:357e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EAS-Edinburgh"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15040; , , ; , , , , , , , , , ; "PMID:24920014"; "A European genome-wide association study of classical Hodgkin lymphoma that genotyped, at the Centre National de Génotypage in France, cases from five European Hodgkin lymphoma studies (the EPILYMPH Study, the Scotland and Newcastle Lymphoma Group, the Young Adult Hodgkin's Disease Case–Control Study, the Scandinavian Lymphoma Etiology Study and the Northern Dutch Hodgkin Lymphoma Study) and compared them with generic controls chosen by country from earlier genome-wide association studies of other cancers in populations of European ancestry, among them ARCAGE, the IARC Central Europe Study, the Pancreatic Cancer Cohort Consortium, the Nijmegen Biomedical Study and the Wellcome Trust Case–Control Consortium. It was the European discovery sample of the 2014 Hodgkin lymphoma GWAS meta-analysis with the University of Southern California and University of Chicago GWAS."; 1200; 6417; "ECS", "European Collaborative GWAS"; rdfs:label "European Collaborative Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15040 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:357f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15040; "Hodgkin lymphoma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4055950/unicode"; rdfs:comment "The European Collaborative Study, presented elsewhere, included 1,241 HL cases aged 13–80 (median age = 33 years) from five European-based HL studies and 5,726 generic controls aged 17–94 (mean age = 62) used in the initial GWAS scan." . _:35802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4055950/unicode"; rdfs:comment "The European Collaborative Study, presented elsewhere, included 1,241 HL cases aged 13–80 (median age = 33 years) from five European-based HL studies and 5,726 generic controls aged 17–94 (mean age = 62) used in the initial GWAS scan. In addition to the classical HL cases described in the initial GWAS, 41 non-cHL cases were also included in the total. The distribution of cases among the five European-based HL studies is: the EPILYMPH Study (N = 196), the Scotland and Newcastle Lymphoma Group and the Young Adult Hodgkin’s Disease Case–Control Study (N = 397), the Scandinavian Lymphoma Etiology Study (SCALE) (N = 344), and the Northern Dutch Hodgkin Lymphoma Study (N = 304)." . _:35812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4055950/unicode"; rdfs:comment "the Scotland and Newcastle Lymphoma Group and the Young Adult Hodgkin’s Disease Case–Control Study (N = 397)" . _:35822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4055950/unicode"; rdfs:comment "The European Collaborative Study, presented elsewhere, included 1,241 HL cases aged 13–80 (median age = 33 years) from five European-based HL studies and 5,726 generic controls aged 17–94 (mean age = 62) used in the initial GWAS scan. In addition to the classical HL cases described in the initial GWAS, 41 non-cHL cases were also included in the total. The distribution of cases among the five European-based HL studies is: the EPILYMPH Study (N = 196), the Scotland and Newcastle Lymphoma Group and the Young Adult Hodgkin’s Disease Case–Control Study (N = 397), the Scandinavian Lymphoma Etiology Study (SCALE) (N = 344), and the Northern Dutch Hodgkin Lymphoma Study (N = 304)." . _:35832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3274508"; rdfs:comment "as well as 1395 study-specific control subjects representing nine European countries, including the Czech Republic, Denmark, France, Germany, Ireland, the Netherlands, Spain, Sweden, and the United Kingdom." . _:35842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24920014"; "A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus."; "PMID:24920014", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4055950/unicode"; rdfs:comment "The European Collaborative Study, presented elsewhere, included 1,241 HL cases aged 13–80 (median age = 33 years) from five European-based HL studies and 5,726 generic controls aged 17–94 (mean age = 62) used in the initial GWAS scan." . _:35852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European genome-wide association study of classical Hodgkin lymphoma that genotyped, at the Centre National de Génotypage in France, cases from five European Hodgkin lymphoma studies (the EPILYMPH Study, the Scotland and Newcastle Lymphoma Group, the Young Adult Hodgkin's Disease Case–Control Study, the Scandinavian Lymphoma Etiology Study and the Northern Dutch Hodgkin Lymphoma Study) and compared them with generic controls chosen by country from earlier genome-wide association studies of other cancers in populations of European ancestry, among them ARCAGE, the IARC Central Europe Study, the Pancreatic Cancer Cohort Consortium, the Nijmegen Biomedical Study and the Wellcome Trust Case–Control Consortium. It was the European discovery sample of the 2014 Hodgkin lymphoma GWAS meta-analysis with the University of Southern California and University of Chicago GWAS."; "PMID:22286212", "PMID:24920014"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1200; "cHL cases and controls in the 2012 European GWAS (no total stated)"; "PMID:22286212"; rdfs:comment "We conducted a genome-wide association study of 1200 cHL patients and 6417 control subjects, with validation in an independent replication series, to identify common genetic variants associated with total cHL and subtypes defined by tumor EBV status." . _:35872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6417; "cHL cases and controls in the 2012 European GWAS (no total stated)"; "PMID:22286212"; rdfs:comment "We conducted a genome-wide association study of 1200 cHL patients and 6417 control subjects, with validation in an independent replication series, to identify common genetic variants associated with total cHL and subtypes defined by tumor EBV status." . _:35882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15051; , , ; "PMID:12081984"; "A multicentre case-control study of myocardial infarction based on the WHO MONICA centres of Belfast (Northern Ireland) and Lille, Strasbourg and Toulouse (France), set up to investigate why coronary heart disease is more than three times as common in middle-aged men in Northern Ireland as in France. Between 1988 and 1991 it recruited men aged 25–64 who had had a myocardial infarction, examined 3 to 9 months after the event, and control men sampled from the general population. Its cases and controls have been used in many candidate-gene studies of myocardial infarction and lipids, and an extension study later recruited men and women in the MONICA areas of Belfast and Glasgow."; 671; 688; "ECTIM", "ECTIM Study", "ECTIM study", "Enquête Cas-Témoins de l'Infarctus du Myocarde", "Etude Cas-Témoin de l'Infarctus du Myocarde", "Etude Cas-Témoin sur l'Infarctus du Myocarde", "Etude Cas-Témoins sur l'Infarctus du Myocarde"; rdfs:label "Etude Cas-Témoins de l'Infarctus du Myocarde"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15051 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15051; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1534257+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Male patients aged 25-64 years with myocardial infarction (MI) and control subjects sampled from the general population were recruited in the four centers." . _:358a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1534257+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ECTIM study, which is based on WHO MONICA centers in Belfast (Northern Ireland), Strasbourg (eastern France), Toulouse (southwestern France), and Lille (northern France), has been established to investigate this striking difference." . _:358b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12081984"; "Serotonin transporter gene polymorphism and myocardial infarction: Etude Cas-Témoins de l'Infarctus du Myocarde (ECTIM)."; "PMID:12081984", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12081984+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The SLC6A4 polymorphism has been investigated by polymerase chain reaction in 671 male patients with MI and in 688 controls from the Etude Cas-Témoins de l'Infarctus du Myocarde (ECTIM) multicentric study." . _:358c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of myocardial infarction based on the WHO MONICA centres of Belfast (Northern Ireland) and Lille, Strasbourg and Toulouse (France), set up to investigate why coronary heart disease is more than three times as common in middle-aged men in Northern Ireland as in France. Between 1988 and 1991 it recruited men aged 25–64 who had had a myocardial infarction, examined 3 to 9 months after the event, and control men sampled from the general population. Its cases and controls have been used in many candidate-gene studies of myocardial infarction and lipids, and an extension study later recruited men and women in the MONICA areas of Belfast and Glasgow."; "PMID:11040019", "PMID:12081984", "PMID:1534257", "PMID:7789377", "PMID:8633596"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:358d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 671; "male MI cases and controls genotyped in the example study (analysed subset)"; "PMID:12081984"; rdfs:comment "The SLC6A4 polymorphism has been investigated by polymerase chain reaction in 671 male patients with MI and in 688 controls from the Etude Cas-Témoins de l'Infarctus du Myocarde (ECTIM) multicentric study." . _:358e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 688; "male MI cases and controls genotyped in the example study (analysed subset)"; "PMID:12081984"; rdfs:comment "The SLC6A4 polymorphism has been investigated by polymerase chain reaction in 671 male patients with MI and in 688 controls from the Etude Cas-Témoins de l'Infarctus du Myocarde (ECTIM) multicentric study." . _:358f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECTIM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15059; , ; "PMID:24516880"; "A clinic-based, cross-sectional study of patients referred for assessment of osteoporosis in Edinburgh and the Lothians, Scotland, supported by Arthritis Research UK, with bone mineral density measurements, fracture histories documented from medical records and radiographs, and DNA. It has been used in genetic association studies of bone density and fracture, including de novo replication genotyping for the GEFOS consortium's meta-analyses and the replication stages of vertebral fracture GWAS."; 2020; "EDOS"; rdfs:label "Edinburgh Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15059 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15059; "osteoporosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4102322/"; rdfs:comment "The Edinburgh Osteoporosis Study (EDOS) consists of a clinical referral population of patients assessed for evaluation of osteoporosis in Edinburgh, United Kingdom." . _:35912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4102322/"; rdfs:comment "The Edinburgh Osteoporosis Study (EDOS) consists of a clinical referral population of patients assessed for evaluation of osteoporosis in Edinburgh, United Kingdom." . _:35922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24516880"; "Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus."; "PMID:24516880", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4102322/"; rdfs:comment "The Edinburgh Osteoporosis Study (EDOS) consists of a clinical referral population of patients assessed for evaluation of osteoporosis in Edinburgh, United Kingdom." . _:35932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based, cross-sectional study of patients referred for assessment of osteoporosis in Edinburgh and the Lothians, Scotland, supported by Arthritis Research UK, with bone mineral density measurements, fracture histories documented from medical records and radiographs, and DNA. It has been used in genetic association studies of bone density and fracture, including de novo replication genotyping for the GEFOS consortium's meta-analyses and the replication stages of vertebral fracture GWAS."; "PMID:24516880", "PMID:30158200", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2020; "patients with DNA and BMD and/or fracture data (GEFOS replication), 2012"; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "EDOS Edinburgh Osteoporosis Study Cross‐sectional Clinical‐based UK Edinburgh and Lothian British (white caucasian) 2,020 Clinical referral population of patients assessed for evaluation of osteoporosis" . _:35952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EDOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15066, _:genid-371333f489424440b12a13b9d98ced822608-genid15068; , , , ; ; ; "PMID:20972438"; "A hospital-based case–control study of bladder cancer in Hungary, Romania and Slovakia, the bladder cancer component of the ASHRAM case–control study of cancer risk from environmental arsenic exposure, whose cases were diagnosed from 2002 to 2004 and whose hospital-based controls were recruited from 2002 to 2004 in the same countries."; 214; 540; "EEBCS"; rdfs:label "Eastern European Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15066 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15068 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15066; "bladder cancer"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:35972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15068; "arsenic in drinking water"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The Arsenic Health Risk Assessment and Molecular epidemiology study (ASHRAM), is a case–control study of cancer risks in relation to arsenic exposure via drinking water in areas of Hungary, Romania and Slovakia." . _:35982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.687/MediaObjects/41588_2010_BFng687_MOESM14_ESM.pdf"; rdfs:comment "Eastern European Bladder Cancer Study (EEBCS) 214 533 Hospital-based case-control, Hungary, Romania and Slovakia" . _:35992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "The EEBCS refers to the bladder cancer component of the ASHRAM case control study of bladder, skin and kidney cancers." . _:359a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20972438"; "A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci."; "PMID:20972438", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.687/MediaObjects/41588_2010_BFng687_MOESM14_ESM.pdf"; rdfs:comment "Eastern European Bladder Cancer Study (EEBCS) 214 533 Hospital-based case-control, Hungary, Romania and Slovakia" . _:359b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of bladder cancer in Hungary, Romania and Slovakia, the bladder cancer component of the ASHRAM case–control study of cancer risk from environmental arsenic exposure, whose cases were diagnosed from 2002 to 2004 and whose hospital-based controls were recruited from 2002 to 2004 in the same countries."; "PMID:19706757", "PMID:20972438", "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:359c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 214; "EEBCS bladder-cancer cases and shared hospital controls in the own ASHRAM design report"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:359d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 540; "EEBCS bladder-cancer cases and shared hospital controls in the own ASHRAM design report"; "https://doi.org/10.1007/s00420-010-0519-1"; rdfs:comment "The study comprised 1,392 participants of whom 852 were cancer cases (529 basal cell carcinoma of skin, BCC; 214 bladder; 109 kidney) and 540 were controls." . _:359e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EEBCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Eastern Europe study population is the heading deCODE genetics' papers give the samples of the ASHRAM case-control study (PMID:18794855, PMID:20348956, PMID:19151717). The heading is a description, not a name, and is not carried over. Replaced by COHO:0001497 (Arsenic Health Risk Assessment and Molecular Epidemiology), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete The Eastern Europe Study Population"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15077; , , , ; ; "PGS000054", "PMID:28213371"; "A family study of Caribbean Hispanics from families multiply affected by late-onset Alzheimer's disease, recruited at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain in New York and from clinics in the Dominican Republic, with follow-up of unaffected family members, to study the genetics of familial late-onset Alzheimer's disease."; 3324; "EFIGA", "Estudio Familiar de Influencia Genetica de Alzheimer"; ; rdfs:label "Estudio Familiar de Influencia Genetica en Alzheimer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15077 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:359f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15077; "late-onset Alzheimer disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4000602/unicode"; rdfs:comment "A cohort of Caribbean Hispanics with familial LOAD was recruited in a different study at the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain in New York and from clinics in the Dominican Republic as part of the EFIGA study." . _:35a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5373783/"; rdfs:comment "Similar to NIA-LOAD, this study recruited patients from families multiply affected by LOAD, but of Caribbean Hispanic ancestry from the Dominican Republic and New York." . _:35a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000054"; "Polygenic risk scores in familial Alzheimer disease."; "PMID:28213371" . _:35a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28213371"; "Polygenic risk scores in familial Alzheimer disease."; "PMID:28213371", "https://europepmc.org/api/getPdf?pmcid=PMC5373783"; rdfs:comment "The Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) study was employed as a replication study." . _:35a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Caribbean Hispanics from families multiply affected by late-onset Alzheimer's disease, recruited at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain in New York and from clinics in the Dominican Republic, with follow-up of unaffected family members, to study the genetics of familial late-onset Alzheimer's disease."; "PMID:24425039", "PMID:28213371"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3324; "EFIGA family members (65% affected) included in the 2017 polygenic risk score analysis (analysed set; no size of the whole study is stated)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5373783/"; rdfs:comment "A total of 3,324 participants were included from the EFIGA study, 65% affected; the age distribution in the EFIGA family significantly differed between cases and controls (78.2 vs 69.8, respectively, p < 0.01)." . _:35a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EFIGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15085; , ; "PMID:21270820"; "A study of patients undergoing cardiac catheterization at Emory University hospitals, the Emory Clinic and Grady Memorial Hospital in Atlanta, Georgia, United States, designed to investigate the relationship of biochemical and genetic factors with coronary artery disease; patients with angiographic coronary artery disease or a history of myocardial infarction or coronary revascularisation serve as cases and those without coronary artery disease on catheterization as controls in genetic studies."; 1738; 1099; "EGS", "Emory GeneBank", "Emory GeneBank Study"; rdfs:label "Emory Genebank Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15085 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15085; "coronary artery disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3079521/"; rdfs:comment "The Emory Genebank Study was designed to investigate the relationship between biochemical and genetic factors with CAD in subjects undergoing cardiac catheterization." . _:35a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S0140673610619964-mmc1.pdf"; rdfs:comment "The Emory Genebank Study (Atlanta, Georgia, USA): Study participants were enrolled at the Emory University Hospital, Crawford Long Hospital, the Emory Clinic and Grady Memorial Hospital, all in Atlanta, Georgia." . _:35a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21270820"; "A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry."; "PMID:21270820", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3079521/"; rdfs:comment "SNPs that met our stringent permutation-based criteria for association with incident CAD in the discovery GeneSTAR population were genotyped for replication in a total of 990 individuals (601 cases and 389 controls) using data from the Emory Genebank Study and CATHGEN cohorts." . _:35a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of patients undergoing cardiac catheterization at Emory University hospitals, the Emory Clinic and Grady Memorial Hospital in Atlanta, Georgia, United States, designed to investigate the relationship of biochemical and genetic factors with coronary artery disease; patients with angiographic coronary artery disease or a history of myocardial infarction or coronary revascularisation serve as cases and those without coronary artery disease on catheterization as controls in genetic studies."; "PMID:21239051", "PMID:21270820"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1738; "cases and controls of the Emory Genebank Study in the CARDIoGRAM 2011 replication sample (analysed subset; no size of the whole study is stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "The Emory Genebank Study 1,738/1,099 53.0 27.0/51.0 57.8 (12.0)/ 66.3 (13.1) 29.1 (6.2) a /27.7 (10.5) b 3" . _:35ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1099; "cases and controls of the Emory Genebank Study in the CARDIoGRAM 2011 replication sample (analysed subset; no size of the whole study is stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "The Emory Genebank Study 1,738/1,099 53.0 27.0/51.0 57.8 (12.0)/ 66.3 (13.1) 29.1 (6.2) a /27.7 (10.5) b 3" . _:35ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15093; , ; ; "PGS000791", "PMID:26956414"; "A population-based case-control study of lymphoma in the north of England, run from York, whose cases are patients aged 16 to 69 newly diagnosed with non-Hodgkin or Hodgkin lymphoma between 1998 and 2003 while resident in defined areas, and whose controls were matched to cases on sex, date of birth and area of residence and drawn from general practice registers."; 761; 761; "ELCCS", "Epidemiology & Genetics Unit Lymphoma Case-Control study", "Epidemiology and Genetics Lymphoma Case-Control Study", "Epidemiology and Genetics Lymphoma Case–Control Study"; ; rdfs:label "Epidemiology & Genetics Lymphoma Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15093 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15093; "lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20832384+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "761 cases with lymphoma (310 diffuse large B-cell [DLBCL]; 226 follicular [FL]; and 225 Hodgkin [HL]) and 761 unaffected age and sex matched controls were recruited and their histories of infection and non-infection diagnoses in primary care records were compared using negative binomial regression." . _:35ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4268499/"; rdfs:comment "ELCCS comprised patients residing in the north of England aged 16-69, with newly diagnosed, non-HIV-related HL, during 1998-2003." . _:35af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000791"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:35b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26956414"; "Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia."; "PMID:26956414", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Epidemiology & Genetics Unit Lymphoma Case- Control study ELCCS 461 Population- based case- control study, UK Cases were patients aged between 18-69 residing in predefined geographic areas and newly diagnosed with NHL between 1998 and 2003. Diagnoses were pathologically confirmed and coded to the WHO Classification for Oncology For each case, one age- and sex- matched control was randomly selected from population based general practice registers" . _:35b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of lymphoma in the north of England, run from York, whose cases are patients aged 16 to 69 newly diagnosed with non-Hodgkin or Hodgkin lymphoma between 1998 and 2003 while resident in defined areas, and whose controls were matched to cases on sex, date of birth and area of residence and drawn from general practice registers."; "PMID:15456990", "PMID:21037568", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2652/MediaObjects/41588_2013_BFng2652_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 761; "ELCCS cases and matched controls in the medical-record analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20832384+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "761 cases with lymphoma (310 diffuse large B-cell [DLBCL]; 226 follicular [FL]; and 225 Hodgkin [HL]) and 761 unaffected age and sex matched controls were recruited and their histories of infection and non-infection diagnoses in primary care records were compared using negative binomial regression." . _:35b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 761; "ELCCS cases and matched controls in the medical-record analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20832384+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "761 cases with lymphoma (310 diffuse large B-cell [DLBCL]; 226 follicular [FL]; and 225 Hodgkin [HL]) and 761 unaffected age and sex matched controls were recruited and their histories of infection and non-infection diagnoses in primary care records were compared using negative binomial regression." . _:35b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15102; , ; ; "PMID:22039354"; "A type 2 diabetes case-control study in the United Kingdom whose cases had previously undiagnosed type 2 diabetes, defined by World Health Organization oral glucose tolerance test criteria, found by population-based stepwise screening of 40- to 69-year-olds in the UK Cambridge arm of the ADDITION study or by oral glucose tolerance testing in the MRC Ely Study, and whose controls were participants of the MRC Ely Study, a population-based cohort of white European adults without diagnosed diabetes from a similar sampling frame as the cases, confirmed free of diabetes by oral glucose tolerance test."; 892; 1610; "ADDITION-Ely", "ADDITION-Ely case-control study", "ADDITION/ELY", "ADDITION/Ely", "Addition/ELY", "Ely case-control study", "Ely case_control study", "Ely_case"; rdfs:label "ADDITION-Ely Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15102 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15102; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3201934/fullTextXML"; rdfs:comment "Previously undiagnosed prevalent cases of T2D, defined using World Health Organization oral glucose tolerance testing criteria, were identified via a population-based stepwise screening strategy among 40- to 69-y olds participating in the UK Cambridge arm of the ADDITION study." . _:35b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3201934/fullTextXML"; rdfs:comment "Previously undiagnosed prevalent cases of T2D, defined using World Health Organization oral glucose tolerance testing criteria, were identified via a population-based stepwise screening strategy among 40- to 69-y olds participating in the UK Cambridge arm of the ADDITION study." . _:35b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22039354"; "Mendelian randomization study of B-type natriuretic peptide and type 2 diabetes: evidence of causal association from population studies."; "PMID:22039354", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3201934/fullTextXML"; rdfs:comment "The Cambridgeshire and the ADDITION-Ely case-control studies received ethical approval from the Cambridge Local Research Ethics Committee, and participants provided informed consent." . _:35b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control study in the United Kingdom whose cases had previously undiagnosed type 2 diabetes, defined by World Health Organization oral glucose tolerance test criteria, found by population-based stepwise screening of 40- to 69-year-olds in the UK Cambridge arm of the ADDITION study or by oral glucose tolerance testing in the MRC Ely Study, and whose controls were participants of the MRC Ely Study, a population-based cohort of white European adults without diagnosed diabetes from a similar sampling frame as the cases, confirmed free of diabetes by oral glucose tolerance test."; "PMID:18372903", "PMID:20081857", "PMID:22039354"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 892; "type 2 diabetes cases and non-diabetic controls in the case-control comparison of the DIAGRAM 2008 stage 3 replication (analysed set)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.120/MediaObjects/41588_2008_BFng120_MOESM8_ESM.pdf"; rdfs:comment "Based on WHO OGTT criteria, participants were confirmed as controls (n=1,610) or classified as cases (n=92), resulting in a total of 892 cases for the case-control comparison." . _:35ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1610; "type 2 diabetes cases and non-diabetic controls in the case-control comparison of the DIAGRAM 2008 stage 3 replication (analysed set)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.120/MediaObjects/41588_2008_BFng120_MOESM8_ESM.pdf"; rdfs:comment "Based on WHO OGTT criteria, participants were confirmed as controls (n=1,610) or classified as cases (n=92), resulting in a total of 892 cases for the case-control comparison." . _:35bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION-Ely"; . _:35bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION/ELY"; . _:35bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ADDITION/Ely"; . _:35be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Addition/ELY"; . _:35bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ely_case"; . a owl:NamedIndividual, ; , , , , , , , , ; "PMID:38829475"; "A multicentre prospective population-based cohort of men aged 40–79 years recruited from population registers in eight European centres (Florence, Leuven, Lodz, Malmö, Manchester, Santiago de Compostela, Szeged and Tartu) with an age-stratified sample at each centre, who completed a detailed questionnaire on personal and medical history, lifestyle and sexual function, designed to examine the prevalence, incidence and geographical distribution of gender-specific and general symptoms of ageing in men and their endocrine, genetic and psychosocial predictors, particularly age-related changes in hormone levels."; 3369; "EMAS", "European Male Aging Study", "European male ageing study"; rdfs:label "European Male Ageing Study"@en . _:35c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18328041+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Men aged 40-79 years were recruited from eight European centres: Florence (Italy), Leuven (Belgium), Lodz (Poland), Malmö (Sweden), Manchester (UK), Santiago de Compostela (Spain), Szeged (Hungary) and Tartu (Estonia)." . _:35c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38829475"; "Evidence-based definition of hypoprolactinemia in European men aged 40-86 years: the European male ageing study."; "PMID:38829475", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38829475+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using data from the European Male Ageing Study (EMAS), we analyzed the distribution of PRL in 3,369 community-dwelling European men, aged 40-80 years at phase-1 and free from acute illnesses." . _:35c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective population-based cohort of men aged 40–79 years recruited from population registers in eight European centres (Florence, Leuven, Lodz, Malmö, Manchester, Santiago de Compostela, Szeged and Tartu) with an age-stratified sample at each centre, who completed a detailed questionnaire on personal and medical history, lifestyle and sexual function, designed to examine the prevalence, incidence and geographical distribution of gender-specific and general symptoms of ageing in men and their endocrine, genetic and psychosocial predictors, particularly age-related changes in hormone levels."; "PMID:18328041", "PMID:18653627"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3369; "men aged 40-79 recruited at baseline in the eight centres"; "PMID:18328041"; rdfs:comment "A total of 3369 men with a mean age of 60 +/- 11 years were recruited." . _:35c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15119, _:genid-371333f489424440b12a13b9d98ced822608-genid15121; , , ; , ; "PGS000004", "PMID:29565421"; "A prospective cohort study in the United Kingdom and the Republic of Ireland, coordinated in Cambridge, of carriers of pathogenic BRCA1 or BRCA2 variants, non-carrier relatives from carrier families and untested potential carriers, recruited through regional cancer genetics centres around the time of genetic testing, to characterise cancer risks in BRCA1 and BRCA2 carriers and their relatives."; 1895; "EMBRACE", "EMBRACE study", "Epidemiological study of BRCA1 & BRCA2 mutation carriers", "Epidemiological study of BRCA1 and BRCA2 mutation carriers"; ; rdfs:label "Epidemiological Study of Familial Breast Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15119 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15121 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15119; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6033314/fullTextXML"; rdfs:comment "Individuals are eligible for inclusion in EMBRACE if they (i) carry a pathogenic mutation in BRCA1 or BRCA2, (ii) are noncarriers in families with a pathogenic BRCA1 or BRCA2 mutation, or (iii) are potential carriers but opt not to undergo a predictive genetic test." . _:35c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15121; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6033314/fullTextXML"; rdfs:comment "Individuals are eligible for inclusion in EMBRACE if they (i) carry a pathogenic mutation in BRCA1 or BRCA2, (ii) are noncarriers in families with a pathogenic BRCA1 or BRCA2 mutation, or (iii) are potential carriers but opt not to undergo a predictive genetic test." . _:35c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6033314/fullTextXML"; rdfs:comment "The Epidemiological Study of Familial Breast Cancer (EMBRACE) study is a prospective cohort study in the United Kingdom and Republic of Ireland, aiming to characterize cancer risks in BRCA1/BRCA2 mutation carriers and their relatives." . _:35c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:35c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29565421"; "Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study."; "PMID:29565421", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6033314/fullTextXML"; rdfs:comment "The Epidemiological Study of Familial Breast Cancer (EMBRACE) study is a prospective cohort study in the United Kingdom and Republic of Ireland, aiming to characterize cancer risks in BRCA1/BRCA2 mutation carriers and their relatives." . _:35ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study in the United Kingdom and the Republic of Ireland, coordinated in Cambridge, of carriers of pathogenic BRCA1 or BRCA2 variants, non-carrier relatives from carrier families and untested potential carriers, recruited through regional cancer genetics centres around the time of genetic testing, to characterise cancer risks in BRCA1 and BRCA2 carriers and their relatives."; "PMID:23544012", "PMID:29565421"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1895; "Unaffected predictive-test-negative women in the EMBRACE breast-cancer analysis reported in 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6033314/fullTextXML"; rdfs:comment "A total of 1,895 unaffected women were eligible for inclusion in the BC risk analysis and 1,736 in the EOC risk analysis." . _:35cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EMBRACE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15129, _:genid-371333f489424440b12a13b9d98ced822608-genid15131; , ; ; "PGS000874", "PMID:26956414"; "A French multicentre hospital-based case-control study of lymphoid neoplasms (non-Hodgkin lymphoma, Hodgkin lymphoma, lymphoproliferative syndromes and multiple myeloma), conducted in the main hospitals of Bordeaux, Brest, Caen, Nantes, Lille and Toulouse from September 2000 to December 2004, whose cases were recently diagnosed patients aged 18 to 75 living in each hospital's catchment area and whose controls were patients of the same hospitals, mainly from orthopaedic and rheumatology departments, to study environmental, infectious and genetic risk factors for these neoplasms."; 822; 752; "ENGELA", "Environmental and Genetic Risks Factors Study in Adult Lymphoma"; ; rdfs:label "Environmental and genetic risks factors study in adult lymphoma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15129 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15131 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15129; "lymphoid neoplasms"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19058175+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Lymphoid neoplasms (LNs), including non-Hodgkin's lymphoma (NHL), Hodgkin's lymphoma (HL), lymphoproliferative syndrome (LPS) and multiple myeloma (MM), are among the most frequent cancers ( approximately 17,000 new cases per year in France), after those related to smoking." . _:35ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15131; "environmental risk factors"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2760125/"; rdfs:comment "The ENGELA study is a French multicenter hospital-based case-control study that was conducted in the main hospitals of Bordeaux, Brest, Caen, Nantes, Lille and Toulouse from September 2000 to December 2004 in order to investigate for environmental, infectious and genetics risk factors for LN." . _:35cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2760125/"; rdfs:comment "ENGELA is a multicenter hospital-based case-control study that was carried out in France over the period September 2000 – December2004." . _:35d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000874"; "Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis."; "PMID:29674426" . _:35d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26956414"; "Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia."; "PMID:26956414", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Environmental and genetic risks factors study in adult lymphoma ENGELA 51 278 Hospital-based case-control study, France Recent diagnosis of a NHL as per the WHO classification (ICD-O-3) / Cases with AIDS or on immunosuppressant drugs were not eligible. Path reports for 100%, slides review for selected NHL Hospitalized in the same hospitals as the cases, for any reason except cancer, an accident or a disease directly related to the subject’s occupation, smoking, or alcohol consumption. HIV negative." . _:35d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French multicentre hospital-based case-control study of lymphoid neoplasms (non-Hodgkin lymphoma, Hodgkin lymphoma, lymphoproliferative syndromes and multiple myeloma), conducted in the main hospitals of Bordeaux, Brest, Caen, Nantes, Lille and Toulouse from September 2000 to December 2004, whose cases were recently diagnosed patients aged 18 to 75 living in each hospital's catchment area and whose controls were patients of the same hospitals, mainly from orthopaedic and rheumatology departments, to study environmental, infectious and genetic risk factors for these neoplasms."; "PMID:19058175"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 822; "ENGELA cases and controls in the own multicentre study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2760125/"; rdfs:comment "In all, 822 cases (397 NHL, 149 LH, 168 SLP and 108 MM) and 752 controls were included and described 5481 and 5188 first degree relatives, respectively." . _:35d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 752; "ENGELA cases and controls in the own multicentre study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2760125/"; rdfs:comment "In all, 822 cases (397 NHL, 149 LH, 168 SLP and 108 MM) and 752 controls were included and described 5481 and 5188 first degree relatives, respectively." . _:35d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENGELA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15140; , ; ; "PGS000351", "PMID:19767753"; "A population-based study of early-onset prostate cancer run by Cancer Council Victoria in Melbourne, Australia, whose participants are men diagnosed with prostate cancer before the age of 56, ascertained through the Victorian Cancer Registry."; 631; "EOPCFS", "EOPCS", "Early Onset Prostate Cancer Study", "The Early Onset Prostate Cancer Study"; ; rdfs:label "Early-Onset Prostate Cancer Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15140 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15140; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2846760/"; rdfs:comment "a population-based series of PrCa cases identified from the Victorian Cancer Registry since 1999, diagnosed at <56 years (Early Onset Prostate Cancer Study, EOPCFS; n=631)" . _:35d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.450/MediaObjects/41588_2009_BFng450_MOESM22_ESM.pdf"; rdfs:comment "MCCS/RFPCS/EOPCFS: Cancer Council Victoria, Melbourne, Australia" . _:35d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000351"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:35d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19767753"; "Identification of seven new prostate cancer susceptibility loci through a genome-wide association study."; "PMID:19767753", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2846760/"; rdfs:comment "The Australian cases were ascertained from three studies28–30: (i) a population-based series of PrCa cases identified from the Victorian Cancer Registry since 1999, diagnosed at <56 years (Early Onset Prostate Cancer Study, EOPCFS; n=631); (ii) a population-based case-control study consisting of cases diagnosed in Melbourne and Perth (Risk Factors for Prostate Cancer Study, RFPCS; n=702)." . _:35da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of early-onset prostate cancer run by Cancer Council Victoria in Melbourne, Australia, whose participants are men diagnosed with prostate cancer before the age of 56, ascertained through the Victorian Cancer Registry."; "PMID:19767753", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.450/MediaObjects/41588_2009_BFng450_MOESM22_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 631; "EOPCFS prostate cases contributed to the 2009 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2846760/"; rdfs:comment "a population-based series of PrCa cases identified from the Victorian Cancer Registry since 1999, diagnosed at <56 years (Early Onset Prostate Cancer Study, EOPCFS; n=631)" . _:35dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EOPCFS"; . _:35dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EOPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15149, _:genid-371333f489424440b12a13b9d98ced822608-genid15151, _:genid-371333f489424440b12a13b9d98ced822608-genid15153; "PMID:40602178"; "A double-blind, placebo-controlled randomised trial of eplerenone, a selective aldosterone blocker, added to optimal medical therapy in patients enrolled 3 to 14 days after an acute myocardial infarction complicated by left ventricular dysfunction (ejection fraction of 40% or less) and heart failure or diabetes, followed for death and cardiovascular hospitalisation; a biomarker substudy of its patients has serial blood measurements."; 6632; "EPHESUS", "EPHESUS trial", "Eplerenone Post-acute myocardial infarction Heart failure Efficacy and SUrvival Study", "The Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study"; rdfs:label "Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15149 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15151 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15153 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15149; "acute myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6837025/fullTextXML"; rdfs:comment "EPHESUS included 6632 patients with an acute MI (3‐14 days after the MI), and a LVEF ≤ 40% plus HF or diabetes to receive either eplerenone (25 mg per day initially, titrated to a maximum of 50 mg per day) or placebo." . _:35df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15151; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6837025/fullTextXML"; rdfs:comment "EPHESUS included 6632 patients with an acute MI (3‐14 days after the MI), and a LVEF ≤ 40% plus HF or diabetes to receive either eplerenone (25 mg per day initially, titrated to a maximum of 50 mg per day) or placebo." . _:35e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15153; "heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6837025/fullTextXML"; rdfs:comment "EPHESUS included 6632 patients with an acute MI (3‐14 days after the MI), and a LVEF ≤ 40% plus HF or diabetes to receive either eplerenone (25 mg per day initially, titrated to a maximum of 50 mg per day) or placebo." . _:35e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40602178"; "Interaction Between Aldosterone and Mineralocorticoid Receptor Antagonist: Findings From the EPHESUS Trial."; "PMID:40602178", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40602178+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a subset of the EPHESUS (Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study) trial, associations between baseline serum aldosterone concentrations, their changes from baseline to month 1, and outcomes were separately assessed in the eplerenone and placebo groups." . _:35e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A double-blind, placebo-controlled randomised trial of eplerenone, a selective aldosterone blocker, added to optimal medical therapy in patients enrolled 3 to 14 days after an acute myocardial infarction complicated by left ventricular dysfunction (ejection fraction of 40% or less) and heart failure or diabetes, followed for death and cardiovascular hospitalisation; a biomarker substudy of its patients has serial blood measurements."; "PMID:12668699", "PMID:31250134", "PMID:31482613"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6632; "EPHESUS randomized patients with acute MI and left ventricular dysfunction plus heart failure or diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6837025/fullTextXML"; rdfs:comment "EPHESUS included 6632 patients with an acute MI (3‐14 days after the MI), and a LVEF ≤ 40% plus HF or diabetes to receive either eplerenone (25 mg per day initially, titrated to a maximum of 50 mg per day) or placebo." . _:35e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPHESUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15159, _:genid-371333f489424440b12a13b9d98ced822608-genid15161; , ; "PGS000733", "PMID:38174802"; "A population-based case-control study of prostate cancer in the Hérault département in the south of France, whose cases are men under 75 newly diagnosed with prostate cancer in 2012-2013 while living in Hérault, identified in all of its public and private cancer centres, and whose controls are men without prostate cancer randomly selected from Hérault's general population with quotas on age and socioeconomic status, set up to study environmental and genetic risk factors for prostate cancer."; 819; 879; "EPICAP", "EPIdemiology of Prostate CAncer", "Epidemiological study of prostate cancer", "Epidemiology of Prostate Cancer"; ; rdfs:label "Epidemiological Study of Prostate Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15159 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15161 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15159; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38174802+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 819 incident cases and 879 controls were interviewed face-to-face using a standardized questionnaire gathering information on known or suspected risk factors of prostate cancer and personal history of specific sexually and non-sexually transmitted infections: gonorrhea, syphilis, trichomonas, herpes, mononucleosis, Epstein-Barr virus, varicella-zoster, and dengue." . _:35e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15161; "night work", "rotating shift work"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3936778/"; rdfs:comment "The EPICAP study aims to answer key questions in prostate cancer etiology: (1) role of circadian disruption through the study of working hours, chronotype and duration/quality of sleep, (2) role of chronic inflammation and anti-inflammatory drugs, (3) role of hormonal and metabolic factors through a detailed questionnaire, (4) role of individual genetic susceptibility of genes involved in biological pathways of interest." . _:35e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10807638/fullTextXML"; rdfs:comment "EPICAP (Epidemiological study of prostate cancer) is a population‐based case–control study conducted in the department of Hérault located in the south of France between 2012 and 2014 to investigate the role of environmental and genetic factors in the occurrence of prostate cancer." . _:35e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:35e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38174802"; "Sexually and non-sexually transmitted infections and the risk of prostate cancer: Results from the EPICAP study."; "PMID:38174802", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10807638/fullTextXML"; rdfs:comment "We used data from epidemiological study of prostate cancer (EPICAP), a population‐based case–control study." . _:35ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of prostate cancer in the Hérault département in the south of France, whose cases are men under 75 newly diagnosed with prostate cancer in 2012-2013 while living in Hérault, identified in all of its public and private cancer centres, and whose controls are men without prostate cancer randomly selected from Hérault's general population with quotas on age and socioeconomic status, set up to study environmental and genetic risk factors for prostate cancer."; "PMID:38174802"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 819; "Interviewed EPICAP cases and controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38174802+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 819 incident cases and 879 controls were interviewed face-to-face using a standardized questionnaire gathering information on known or suspected risk factors of prostate cancer and personal history of specific sexually and non-sexually transmitted infections: gonorrhea, syphilis, trichomonas, herpes, mononucleosis, Epstein-Barr virus, varicella-zoster, and dengue." . _:35ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 879; "Interviewed EPICAP cases and controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38174802+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 819 incident cases and 879 controls were interviewed face-to-face using a standardized questionnaire gathering information on known or suspected risk factors of prostate cancer and personal history of specific sexually and non-sexually transmitted infections: gonorrhea, syphilis, trichomonas, herpes, mononucleosis, Epstein-Barr virus, varicella-zoster, and dengue." . _:35ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPICAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15170; , ; ; ; "PGS000770", "PMID:18454148"; "A representative sample of the EPIC-Norfolk cohort (men and women of European descent aged 39 to 79, recruited in Norfolk, United Kingdom, in 1993-1997), genotyped genome-wide for genetic association studies of body mass index and obesity."; 2566; "EPIC-Obesity", "EPIC-Obesity Study", "European Prospective Investigation into Cancer and Nutrition - Obesity Study", "European Prospective Investigation into Cancer and Nutrition _ Obesity study cohort"; ; rdfs:label "EPIC Obesity study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15170 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15170; "obesity"; "https://europepmc.org/api/getPdf?pmcid=PMC2669167"; rdfs:comment "The EPIC Obesity study comprises a representative sample (n = 2,566) nested within the EPIC-Norfolk Study27, a population-based cohort study of 25,663 men and women of European descent aged 39–79 y recruited in Norfolk, UK between 1993 and 1997." . _:35ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC2669167"; rdfs:comment "The EPIC Obesity study comprises a representative sample (n = 2,566) nested within the EPIC-Norfolk Study27, a population-based cohort study of 25,663 men and women of European descent aged 39–79 y recruited in Norfolk, UK between 1993 and 1997." . _:35f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC2669167"; rdfs:comment "The EPIC Obesity study comprises a representative sample (n = 2,566) nested within the EPIC-Norfolk Study27, a population-based cohort study of 25,663 men and women of European descent aged 39–79 y recruited in Norfolk, UK between 1993 and 1997." . _:35f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:35f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18454148"; "Common variants near MC4R are associated with fat mass, weight and risk of obesity."; "PMID:18454148", "https://europepmc.org/api/getPdf?pmcid=PMC2669167"; rdfs:comment "The EPIC Obesity study comprises a representative sample (n = 2,566) nested within the EPIC-Norfolk Study27, a population-based cohort study of 25,663 men and women of European descent aged 39–79 y recruited in Norfolk, UK between 1993 and 1997." . _:35f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A representative sample of the EPIC-Norfolk cohort (men and women of European descent aged 39 to 79, recruited in Norfolk, United Kingdom, in 1993-1997), genotyped genome-wide for genetic association studies of body mass index and obesity."; "PMID:18454148", "PMID:19079261"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2566; "EPIC-Norfolk participants in the representative sample"; "https://europepmc.org/api/getPdf?pmcid=PMC2669167"; rdfs:comment "The EPIC Obesity study comprises a representative sample (n = 2,566) nested within the EPIC-Norfolk Study27, a population-based cohort study of 25,663 men and women of European descent aged 39–79 y recruited in Norfolk, UK between 1993 and 1997." . _:35f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIC-Obesity"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15179; , ; "PGS000734", "PMID:21655089"; "A prospective, multicentre, population-based study of colorectal cancer across Spain, started in 1999 by the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association, which in two phases (EPICOLON I in 25 hospitals and EPICOLON II in 14) recruited consecutive unselected patients newly diagnosed with colorectal cancer and hospital controls matched by age and sex with no personal or family history of cancer, mainly to study Lynch syndrome and familial colorectal cancer."; 2000; 2000; "EPICOLON Consortium", "EPICOLON consortium", "EPICOLON project", "EPICOLON study"; ; rdfs:label "EPICOLON"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15179 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15179; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22294762+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "It recruited consecutive, unselected, population-based colorectal cancer (CRC) cases and control subjects matched by age and gender without personal or familial history of cancer all over Spain with the main goal of gaining knowledge in Lynch syndrome and familial CRC." . _:35f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22294762+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "It recruited consecutive, unselected, population-based colorectal cancer (CRC) cases and control subjects matched by age and gender without personal or familial history of cancer all over Spain with the main goal of gaining knowledge in Lynch syndrome and familial CRC." . _:35f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:35f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21655089"; "Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer."; "PMID:21655089", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3107194/"; rdfs:comment "EPICOLON [19] included 1,410 cases matched with the same number of controls collected in a prospective fashion from centres in Spain." . _:35fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre, population-based study of colorectal cancer across Spain, started in 1999 by the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association, which in two phases (EPICOLON I in 25 hospitals and EPICOLON II in 14) recruited consecutive unselected patients newly diagnosed with colorectal cancer and hospital controls matched by age and sex with no personal or family history of cancer, mainly to study Lynch syndrome and familial colorectal cancer."; "PMID:20638935", "PMID:22294762", "PMID:30510241"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:35fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "Approximate EPICOLON phase I/II cases and controls in its own 2012 review"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22294762+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This epidemiological, prospective and multicentre study collected extensive clinical data and biological samples from ∼2000 CRC cases and 2000 controls in Phases 1 and 2 involving 25 and 14 participating hospitals, respectively." . _:35fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "Approximate EPICOLON phase I/II cases and controls in its own 2012 review"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22294762+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This epidemiological, prospective and multicentre study collected extensive clinical data and biological samples from ∼2000 CRC cases and 2000 controls in Phases 1 and 2 involving 25 and 14 participating hospitals, respectively." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15187; , ; "PMID:22956598"; "A prospective population-based study of pain in North West England, in which adults aged 25 to 65 years recruited from the registers of three general practices in socio-economically diverse areas answered postal questionnaires on pain and psychological factors at baseline and were followed up at about 15 months and 4 years; it has been used to study the onset, persistence and genetics of chronic widespread pain."; 6791; "EPIFUND", "EPIFUND study", "EPIdemiological study of FUNctional Disorders", "EpiFunD", "Epifund", "epidemiology of functional disorders"; rdfs:label "Epidemiology of Functional Disorders"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15187 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:35fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15187; "pain"; "https://doi.org/10.3899/jrheum.080541"; rdfs:comment "We conducted a 4-year prospective population-based study of pain in the North-West of England known as the Epidemiology of Functional Disorders (Epifund) study." . _:35fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3691951/fullTextXML"; rdfs:comment "The studies are from the UK (the British 1958 Birth Cohort (1958BC),23 36–38 the Chingford Study (CHINGFORD),39 40 the Dyne Steel DNA Bank for Aging and Cognition (DSDBAC),41 the EPIdemiological study of FUNctional Disorders (EPIFUND),20 and the Hertfordshire Cohort Study (HCS)42);" . _:35ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22956598"; "Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region."; "PMID:22956598", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3691951/fullTextXML"; rdfs:comment "The stage 2b studies (CHINGFORD, EPIFUND and HCS) performed de novo genotyping, using both Sequenom iPLEX and TaqMan-based assays (supplementary methods)." . _:36002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based study of pain in North West England, in which adults aged 25 to 65 years recruited from the registers of three general practices in socio-economically diverse areas answered postal questionnaires on pain and psychological factors at baseline and were followed up at about 15 months and 4 years; it has been used to study the onset, persistence and genetics of chronic widespread pain."; "PMID:19059720", "PMID:19369469", "PMID:19723618", "PMID:20400346"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6791; "adults aged 25-65 who took part in the baseline postal survey (2001)"; "https://doi.org/10.3899/jrheum.080541"; rdfs:comment "Of the 6791 baseline participants, 3985 and 2761 completed first and second followup surveys, respectively, as shown in Figure 1." . _:36022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIFUND"; . _:36032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EpiFunD"; . _:36042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epifund"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15196, _:genid-371333f489424440b12a13b9d98ced822608-genid15198; , ; "PMID:20431428"; "A case-control sample of Ashkenazi Jewish people with schizophrenia, including schizoaffective disorder, and screened Ashkenazi Jewish controls, all reporting four grandparents of Ashkenazi Jewish descent, recruited in the United States by the Epidemiology-Genetics Program in Psychiatry of Johns Hopkins University: the cases through advertisements, talks and letters to the Jewish community and a study website, interviewed in person and diagnosed by consensus, and the controls at Jewish community meetings, community centres and synagogues."; 721; 720; "Epi_Gen_AJ_SZ", "Epidemiology genetic program AJ schizophrenia case-control samples"; rdfs:label "Johns Hopkins Epidemiology-Genetics Program Ashkenazi Jewish schizophrenia case-control sample"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15196 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15198 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15196; "schizophrenia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4363491/"; rdfs:comment "Subjects included research participants with a diagnosis of SZ (including schizoaffective) or BP diagnosis recruited over a 15-year period (1996–2011) through advertisements, talks, letters to leaders service providers of the Jewish community and a study web site." . _:36062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15198; "schizoaffective disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4363491/"; rdfs:comment "Subjects included research participants with a diagnosis of SZ (including schizoaffective) or BP diagnosis recruited over a 15-year period (1996–2011) through advertisements, talks, letters to leaders service providers of the Jewish community and a study web site." . _:36072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4363491/"; rdfs:comment "Since 1996, recruitment has focused on Ashkenazi Jewish (AJ) individuals in the U.S affected with SZ or BP, their families and screened controls." . _:36082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20431428"; "Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women."; "PMID:20431428", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2901865/"; rdfs:comment "Our analysis sample of 721 AJ SZ probands and 720 AJ controls was collected by the Johns Hopkins Epidemiology-Genetics Program in Psychiatry (http://www.hopkinsmedicine.org/epigen/), and has been described in detail elsewhere (Fallin et al. 2003)." . _:36092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of Ashkenazi Jewish people with schizophrenia, including schizoaffective disorder, and screened Ashkenazi Jewish controls, all reporting four grandparents of Ashkenazi Jewish descent, recruited in the United States by the Epidemiology-Genetics Program in Psychiatry of Johns Hopkins University: the cases through advertisements, talks and letters to the Jewish community and a study website, interviewed in person and diagnosed by consensus, and the controls at Jewish community meetings, community centres and synagogues."; "PMID:20431428", "PMID:25781172"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:360a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 721; "Ashkenazi Jewish schizophrenia probands and Ashkenazi Jewish controls of the program in one replication study (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2901865/"; rdfs:comment "Our analysis sample of 721 AJ SZ probands and 720 AJ controls was collected by the Johns Hopkins Epidemiology-Genetics Program in Psychiatry (http://www.hopkinsmedicine.org/epigen/), and has been described in detail elsewhere (Fallin et al. 2003)." . _:360b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 720; "Ashkenazi Jewish schizophrenia probands and Ashkenazi Jewish controls of the program in one replication study (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2901865/"; rdfs:comment "Our analysis sample of 721 AJ SZ probands and 720 AJ controls was collected by the Johns Hopkins Epidemiology-Genetics Program in Psychiatry (http://www.hopkinsmedicine.org/epigen/), and has been described in detail elsewhere (Fallin et al. 2003)." . _:360c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epi_Gen_AJ_SZ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15206; , ; , , , ; "PGS000217", "PMID:38965493"; "A Swedish population-based cohort study of men and women aged 45 to 75, recruited from 2011 through test centres in Uppsala and Malmö, who answered an internet-based lifestyle questionnaire and gave blood samples and physiological measurements at the test centre, and who are followed for disease outcomes through nationwide medical registers, set up to study interactions between genes and lifestyle in common diseases."; 25444; "EPIHEALTH", "EpiHealth cohort study", "EpiHealth study", "Epidemiology for Health", "Epidemiology for Health cohort", "Epihealth"; , ; rdfs:label "EpiHealth"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:360d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15206; "lifestyle factors"; "https://doi.org/10.1007/s10654-013-9787-x"; rdfs:comment "In contrast, the study will well serve the postulated main aim, to investigate gene–lifestyle interactions in the causation of common diseases in the middle-aged and elderly, since this only requires sufficiently large ranges in the distributions of lifestyle factors and genetic variants." . _:360e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11225376/fullTextXML"; rdfs:comment "For this purpose, we used data from the Swedish cohort study EpiHealth (www.epihealth.se) [32], a large population study." . _:360f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000217"; "Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals."; "PMID:33067605" . _:36102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38965493"; "Bioelectrical impedance and lung function-associations with gender and central obesity: results of the EpiHealth study."; "PMID:38965493", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11225376/fullTextXML"; rdfs:comment "The study started in 2011 and included a questionnaire and a visit to a test centre located in Malmö or Uppsala, with the aim of studying the connections between lifestyle factors and genetic predisposition contributing to the development of the most common diseases, such as cardiovascular and respiratory [32]." . _:36112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Swedish population-based cohort study of men and women aged 45 to 75, recruited from 2011 through test centres in Uppsala and Malmö, who answered an internet-based lifestyle questionnaire and gave blood samples and physiological measurements at the test centre, and who are followed for disease outcomes through nationwide medical registers, set up to study interactions between genes and lifestyle in common diseases."; "PMID:23435790", "PMID:38965493"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25444; "participants aged 45-75 in the cohort's initial sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11225376/fullTextXML"; rdfs:comment "The initial sample size was 25,444 participants (aged 45–75 years)." . _:36132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPIHEALTH"; . _:36142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epihealth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15215; , , , , , , ; ; "PMID:32649712"; "A multicentre case-control study of incident lymphoma conducted in 1998–2004 in the Czech Republic, France, Germany, Ireland, Italy and Spain, whose controls were frequency-matched to cases on age, sex and country and drawn at random from population registers in Germany and Italy and from patients of the cases' hospitals elsewhere, and whose participants were interviewed in person about their medical and family history and environmental exposures, to investigate risk factors for lymphoma."; 2362; 2465; "EPILYMPH", "Epilymph", "Epilymph case-control study in six European countries"; rdfs:label "EpiLymph"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15215 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15215; "lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7351167/fullTextXML"; rdfs:comment "Epilymph is a case-control study of incident lymphoma conducted between 1998 and 2004 in the Czech-Republic, France, Germany, Ireland, Italy, and Spain." . _:36162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7351167/fullTextXML"; rdfs:comment "Epilymph is a case-control study of incident lymphoma conducted between 1998 and 2004 in the Czech-Republic, France, Germany, Ireland, Italy, and Spain." . _:36172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32649712"; "Association of ionizing radiation dose from common medical diagnostic procedures and lymphoma risk in the Epilymph case-control study."; "PMID:32649712", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7351167/fullTextXML"; rdfs:comment "Here we examine the association between medical diagnostic IR exposure and lymphoma risk in the multicentre European lymphoma case-control study Epilymph." . _:36182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of incident lymphoma conducted in 1998–2004 in the Czech Republic, France, Germany, Ireland, Italy and Spain, whose controls were frequency-matched to cases on age, sex and country and drawn at random from population registers in Germany and Italy and from patients of the cases' hospitals elsewhere, and whose participants were interviewed in person about their medical and family history and environmental exposures, to investigate risk factors for lymphoma."; "PMID:16702371", "PMID:17087949", "PMID:32649712"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2362; "lymphoma cases and controls recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7351167/fullTextXML"; rdfs:comment "A total of 2,362 lymphoma cases and 2,465 controls were recruited into the study." . _:361a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2465; "lymphoma cases and controls recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7351167/fullTextXML"; rdfs:comment "A total of 2,362 lymphoma cases and 2,465 controls were recruited into the study." . _:361b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPILYMPH"; . _:361c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epilymph"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15224, _:genid-371333f489424440b12a13b9d98ced822608-genid15226, _:genid-371333f489424440b12a13b9d98ced822608-genid15228; , , ; "PGS002291", "PMID:35414057"; "A hospital-based case-control study of nasopharyngeal carcinoma in Guangdong, southern China, whose cases are Guangdong residents under 80 with newly diagnosed, histologically confirmed nasopharyngeal carcinoma identified at Sun Yat-sen University Cancer Center in Guangzhou between October 2005 and October 2007, and whose frequency-matched controls are Guangdong residents without cancer recruited among people attending health examinations at large general hospitals of the province; it was set up to study dietary, environmental and genetic risk factors for the disease."; 1845; 2275; "EPI-NPC-2005", "EPI-NPC-2005 project", "EPI-NPC-2005 sample"; ; rdfs:label "EPI-NPC-2005 study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15224 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15226 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15228 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:361d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15224; "nasopharyngeal carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6712476/fullTextXML"; rdfs:comment "Briefly, NPC patients were recruited from Sun Yat‐sun University Cancer Center (SYSUCC), Guangzhou, China, according to the following criteria: (a) pathologically confirmed NPC; (b) under 80 years of age; (c) residence in Guangdong Province for at least 5 years." . _:361e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15226; "EBV"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6712476/fullTextXML"; rdfs:comment "The present hospital‐based case‐only study was conducted on the basis of a case‐control study named as EPI‐NPC‐2005 project conducted during October 2005 and October 2007, which was designed to assess the interaction between EBV, environmental factors and genetic determinants in the pathogenesis and progression of NPC." . _:361f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15228; "environmental factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6712476/fullTextXML"; rdfs:comment "The present hospital‐based case‐only study was conducted on the basis of a case‐control study named as EPI‐NPC‐2005 project conducted during October 2005 and October 2007, which was designed to assess the interaction between EBV, environmental factors and genetic determinants in the pathogenesis and progression of NPC." . _:36202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005522/fullTextXML"; rdfs:comment "For the PRS construction, 4 GWAS populations were included from regions in southern China with the highest NPC incidence, including the EPI-NPC-2005 sample (1614 cases and 1819 controls)41,42, NPCGEE sample (1098 cases and 991 controls)43, SYSUNPC sample (1617 cases and 2610 controls)44,45 and Hong Kong sample (426 cases and 573 controls)46,47." . _:36212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002291"; "The interaction and mediation effects between the host genetic factors and Epstein-Barr virus VCA-IgA in the risk of nasopharyngeal carcinoma."; "PMID:37970759" . _:36222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35414057"; "A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening."; "PMID:35414057", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005522/fullTextXML"; rdfs:comment "For the PRS construction, 4 GWAS populations were included from regions in southern China with the highest NPC incidence, including the EPI-NPC-2005 sample (1614 cases and 1819 controls)41,42, NPCGEE sample (1098 cases and 991 controls)43, SYSUNPC sample (1617 cases and 2610 controls)44,45 and Hong Kong sample (426 cases and 573 controls)46,47." . _:36232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of nasopharyngeal carcinoma in Guangdong, southern China, whose cases are Guangdong residents under 80 with newly diagnosed, histologically confirmed nasopharyngeal carcinoma identified at Sun Yat-sen University Cancer Center in Guangzhou between October 2005 and October 2007, and whose frequency-matched controls are Guangdong residents without cancer recruited among people attending health examinations at large general hospitals of the province; it was set up to study dietary, environmental and genetic risk factors for the disease."; "PMID:20727127", "PMID:29905022", "PMID:31241250", "PMID:35414057"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1845; "nasopharyngeal carcinoma patients and physical-examination-centre controls who completed the study interview, October 2005 to October 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6051183/fullTextXML"; rdfs:comment "A total of 1948 patients were included and 1845 patients (94.7%) completed the interviews." . _:36252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2275; "nasopharyngeal carcinoma patients and physical-examination-centre controls who completed the study interview, October 2005 to October 2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6051183/fullTextXML"; rdfs:comment "In the same period, 2381 eligible controls were identified and 2275 (95.5%) interviews were finished." . _:36262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPI-NPC-2005"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15237; , ; ; "PGS000777", "PMID:33958783"; "A population-based cohort set up in 2010 in Lübeck, Germany, in which inhabitants screened by mailed questionnaire were assigned to groups ranging from healthy controls to people with suspected early motor signs of parkinsonism, alongside Parkinson's disease patients, and selected participants were examined in person and followed up, to investigate the specificity of non-motor symptoms for Parkinson's disease."; 5838; ; rdfs:label "EPIPARK"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15237 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15237; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23257687+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This cohort was set up in 2010 to investigate the specificity of non-motor symptoms for Parkinson's disease." . _:36282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23257687+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using a mailed questionnaire, we screened 5838 inhabitants of Lübeck, Germany, out of a target population of 10 000 citizens, enquiring about motor impairment, pain, quality of life, comorbidities, somatization and demographics." . _:36292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:362a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33958783"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8459648/unicode"; rdfs:comment "To further test the performance of the PHS score in independent patients (that were not previously used to discover and replicate the progression variants, nor to build and optimize the PHS), we analyzed three new independent cohorts (EPIPARK, DeNoPa; HBS2)." . _:362b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort set up in 2010 in Lübeck, Germany, in which inhabitants screened by mailed questionnaire were assigned to groups ranging from healthy controls to people with suspected early motor signs of parkinsonism, alongside Parkinson's disease patients, and selected participants were examined in person and followed up, to investigate the specificity of non-motor symptoms for Parkinson's disease."; "PMID:23257687"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:362c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5838; "inhabitants of Lübeck screened by mailed questionnaire (the population arm; Parkinson's disease patients not included)"; "PMID:23257687"; rdfs:comment "Using a mailed questionnaire, we screened 5838 inhabitants of Lübeck, Germany, out of a target population of 10 000 citizens, enquiring about motor impairment, pain, quality of life, comorbidities, somatization and demographics." . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. In the only paper the PGS Catalog records the id EPOS in (PMID:35654975), it is the EPoS Consortium's liver-biopsy cohort from the European NAFLD Registry, not an osteoporosis study. The Catalog's expansion, European Prospective Osteoporosis Study, is wrong and is not carried over. Replaced by COHO:0001420 (LITMUS Metacohort), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete European Prospective Osteoporosis Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15244, _:genid-371333f489424440b12a13b9d98ced822608-genid15246; , ; , ; "PGS005170", "PMID:40691366"; "A population-based follow-up study begun in 1975 in Zoetermeer, the Netherlands, which examined inhabitants aged from 5 to 91 years to study the determinants of chronic diseases; participants aged 60 to 90 were later sampled for brain MRI in 1995–1996 and rescanned in 1999–2000 and 2008."; 10361; "EPOZ", "Epidemiologic Study of Cardiovascular Risk Indicators", "Epidemiological Prevention Study Zoetermeer", "Epidemiological Prevention Study of Zoetermeer", "Epidemiological Prevention study Of Zoetermeer"; ; rdfs:label "Epidemiologisch Preventief Onderzoek Zoetermeer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15244 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15246 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:362d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15244; "cardiovascular diseases"; "https://europepmc.org/api/getPdf?pmcid=PMC1003741"; rdfs:comment "To study the prevalence and determinants of rheumatic and cardiovascular diseases a population survey was conducted between 1975 and 1978 in two districts of Zoetermeer, a suburban metropolitan area near The Hague in The Netherlands." . _:362e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15246; "rheumatic diseases"; "https://europepmc.org/api/getPdf?pmcid=PMC1003741"; rdfs:comment "To study the prevalence and determinants of rheumatic and cardiovascular diseases a population survey was conducted between 1975 and 1978 in two districts of Zoetermeer, a suburban metropolitan area near The Hague in The Netherlands." . _:362f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9143207+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All residents of 5 or more years who were living in two districts in the Dutch town of Zoetermeer were invited to participate in a study on indicators for chronic diseases between 1975 and 1978." . _:36302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:36312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "EPOZ | Epidemiologisch Preventief Onderzoek Zoetermeer | EUR | 416" . _:36322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based follow-up study begun in 1975 in Zoetermeer, the Netherlands, which examined inhabitants aged from 5 to 91 years to study the determinants of chronic diseases; participants aged 60 to 90 were later sampled for brain MRI in 1995–1996 and rescanned in 1999–2000 and 2008."; "PMID:10657417", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4879491/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10361; "subjects aged 5 to 91 years included in the study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4879491/fullTextXML"; rdfs:comment "It includes 10,361 subjects between 5 and 91 years old and originally focused on determinants of various chronic diseases." . _:36342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPOZ"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. eQTL names an analysis, expression quantitative trait loci mapped in lung tissue, which papers run on several different sets of lung samples (PMID:28604730); no score in the PGS Catalog uses the id. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Expression Quantitative Trait Loci _ Lung"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15254, _:genid-371333f489424440b12a13b9d98ced822608-genid15256; , ; "PMID:32438682"; "A national retrospective study of children aged 1 to 18 years diagnosed with acute lymphoblastic leukaemia or lymphoblastic lymphoma between 1998 and 2013 at six tertiary paediatric oncology centres in Australia and treated on Berlin-Frankfurt-Münster- or Children's Oncology Group-based protocols, with annotation of treatment, survival and treatment-related toxicities and a germline genome-wide association study, to find clinical and genetic risk factors for side-effects of treatment."; 1251; "ERASE", "ERASE cohort", "ERASE study", "Evaluation of ALL Treatment-related Side-Effects", "Evaluation of Risk of ALL Treatment-related Side-Effects", "Evaluation of Risk of ALL treatment-related Side-Effects"; rdfs:label "Evaluation of Risk of ALL Treatment-Related Side-Effects"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15254 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15256 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15254; "lymphoblastic lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8883571/fullTextXML"; rdfs:comment "We conducted a national Australian retrospective review of children diagnosed with ALL or lymphoblastic lymphoma (LBL)." . _:36362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15256; "acute lymphoblastic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8883571/fullTextXML"; rdfs:comment "We conducted a national Australian retrospective review of children diagnosed with ALL or lymphoblastic lymphoma (LBL)." . _:36372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8883571/fullTextXML"; rdfs:comment "We conducted a national Australian retrospective review of children diagnosed with ALL or lymphoblastic lymphoma (LBL)." . _:36382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32438682"; "Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Caucasian Children."; "PMID:32438682", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32438682+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We undertook a genome-wide association study (GWAS) meta-analysis for VTE in consecutively treated children in the Nordic/Baltic acute lymphoblastic leukemia 2008 (ALL2008) cohort and the Australian Evaluation of Risk of ALL Treatment-Related Side-Effects (ERASE) cohort." . _:36392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national retrospective study of children aged 1 to 18 years diagnosed with acute lymphoblastic leukaemia or lymphoblastic lymphoma between 1998 and 2013 at six tertiary paediatric oncology centres in Australia and treated on Berlin-Frankfurt-Münster- or Children's Oncology Group-based protocols, with annotation of treatment, survival and treatment-related toxicities and a germline genome-wide association study, to find clinical and genetic risk factors for side-effects of treatment."; "PMID:32438682", "PMID:33567813", "PMID:41163570"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:363a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1251; "ERASE clinical cohort in the 2021 toxicity report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8883571/fullTextXML"; rdfs:comment "The clinical cohort consisted of 1,251 children with ALL/LBL (Online Supplementary Figure S1) from six tertiary Australian pediatric oncology centers." . _:363b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ERASE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15263; ; , , , , , , , , ; "PGS000742", "PMID:33623038"; "A multicentre randomised trial of prostate-specific antigen (PSA) screening, begun in 1993 in the Netherlands and Belgium and joined by centres in Sweden, Finland, Italy, Spain, Switzerland and France, in which men aged 50 to 74 identified from population registers were randomly assigned to screening, generally every four years, or to no intervention, and followed for prostate cancer incidence and mortality."; 162388; "ERSPC", "European Randomised study of Screening for Prostate Cancer", "European Randomized Study of Screening for Prostate Cancer", "European Study of Screening for Prostate Cancer", "European randomised study of screening for prostate cancer"; ; rdfs:label "European Randomised Study of Screening for Prostate Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15263 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:363c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15263; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4427906/"; rdfs:comment "In the core age group of men aged 55–69 years, excluding France, 162,388 were randomized, of whom 145 died between randomization and screening." . _:363d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4427906/unicode"; rdfs:comment "The trial was initiated in 1993 in the Netherlands and in Belgium." . _:363e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4427906/unicode"; rdfs:comment "Recruitment was completed by the end of 2003, except in France with recruitment up to 2005." . _:363f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4427906/unicode"; rdfs:comment "Five other centers (Sweden, Finland, Italy, Spain and Switzerland) joined the study between 1994 and 1998." . _:36402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:36412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "ERSPC (n=137) Erasmus Medical Centre Rotterdam, The Netherlands Population- based, randomized control trial" . _:36422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised trial of prostate-specific antigen (PSA) screening, begun in 1993 in the Netherlands and Belgium and joined by centres in Sweden, Finland, Italy, Spain, Switzerland and France, in which men aged 50 to 74 identified from population registers were randomly assigned to screening, generally every four years, or to no intervention, and followed for prostate cancer incidence and mortality."; "PMID:25108889"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 162388; "ERSPC randomized core age group 55-69, excluding France"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4427906/"; rdfs:comment "In the core age group of men aged 55–69 years, excluding France, 162,388 were randomized, of whom 145 died between randomization and screening." . _:36442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ERSPC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. ESAC is the phenotype heading 'Esophageal Adeno-carcinoma' of the oesophageal adenocarcinoma rows of the BEACON GWAS (PMID:24121790), not a sample. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete ESophageal Adeno-carcinoma"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15273, _:genid-371333f489424440b12a13b9d98ced822608-genid15275, _:genid-371333f489424440b12a13b9d98ced822608-genid15277, _:genid-371333f489424440b12a13b9d98ced822608-genid15279, _:genid-371333f489424440b12a13b9d98ced822608-genid15281; , ; ; "PGS000788", "PMID:21147599"; "A nationwide registry-based case-control study carried out in France in 2003–2004 of children under 15 years old diagnosed with acute leukaemia, lymphoma, a malignant central nervous system tumour or neuroblastoma, and population controls frequency-matched to them on age and sex, whose mothers were interviewed by standardised telephone questionnaire, to investigate environmental and genetic risk factors for childhood cancers and leukaemia."; 763; 1681; "ESCALE", "ESCALE study", "Epidemiological Study on childhood Cancer and Leukemia", "Escale", "Study on Environmental and Genetic Risk Factors of Childhood Cancers and Leukemia"; ; rdfs:label "Etude Sur les Cancers et les Leucémies de l'Enfant"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15273 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15275 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15277 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15279 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15281 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15273; "lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "The ESCALE study is a national study conducted in 2003 and 2004 in mainland France (11 million children < 15 years of age) to investigate the role of infectious, environmental, and genetic factors in four childhood neoplastic diseases (acute leukemia, lymphoma, neuroblastoma, and brain tumor) (Brosselin et al. 2009; Rudant et al. 2007, 2008, 2010)." . _:36462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15275; "neuroblastoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "The ESCALE study is a national study conducted in 2003 and 2004 in mainland France (11 million children < 15 years of age) to investigate the role of infectious, environmental, and genetic factors in four childhood neoplastic diseases (acute leukemia, lymphoma, neuroblastoma, and brain tumor) (Brosselin et al. 2009; Rudant et al. 2007, 2008, 2010)." . _:36472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15277; "acute leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "The ESCALE study is a national study conducted in 2003 and 2004 in mainland France (11 million children < 15 years of age) to investigate the role of infectious, environmental, and genetic factors in four childhood neoplastic diseases (acute leukemia, lymphoma, neuroblastoma, and brain tumor) (Brosselin et al. 2009; Rudant et al. 2007, 2008, 2010)." . _:36482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15279; "brain tumor"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "The ESCALE study is a national study conducted in 2003 and 2004 in mainland France (11 million children < 15 years of age) to investigate the role of infectious, environmental, and genetic factors in four childhood neoplastic diseases (acute leukemia, lymphoma, neuroblastoma, and brain tumor) (Brosselin et al. 2009; Rudant et al. 2007, 2008, 2010)." . _:36492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15281; "road traffic exhaust fumes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "A national registry–based case–control study [ESCALE (Etude Sur les Cancers et les Leucémies de l’Enfant, Study on Environmental and Genetic Risk Factors of Childhood Cancers and Leukemia)] carried out in France was used to assess the effect of exposure to road traffic exhaust fumes on the risk of childhood leukemia." . _:364a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21147599+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A national registry-based case-control study [ESCALE (Etude Sur les Cancers et les Leucémies de l'Enfant, Study on Environmental and Genetic Risk Factors of Childhood Cancers and Leukemia)] carried out in France was used to assess the effect of exposure to road traffic exhaust fumes on the risk of childhood leukemia." . _:364b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000788"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:364c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21147599"; "A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology."; "PMID:21147599", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "The ESCALE study is a national study conducted in 2003 and 2004 in mainland France (11 million children < 15 years of age) to investigate the role of infectious, environmental, and genetic factors in four childhood neoplastic diseases (acute leukemia, lymphoma, neuroblastoma, and brain tumor) (Brosselin et al. 2009; Rudant et al. 2007, 2008, 2010)." . _:364d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide registry-based case-control study carried out in France in 2003–2004 of children under 15 years old diagnosed with acute leukaemia, lymphoma, a malignant central nervous system tumour or neuroblastoma, and population controls frequency-matched to them on age and sex, whose mothers were interviewed by standardised telephone questionnaire, to investigate environmental and genetic risk factors for childhood cancers and leukaemia."; "PMID:17330239", "PMID:18396378", "PMID:21147599"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:364e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 763; "ESCALE acute-leukemia cases and common population controls in the 2011 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "Over the study period, 2003–2004, 763 cases and 1,681 controls < 15 years old were included, and the controls were frequency matched with the cases on age and sex." . _:364f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1681; "ESCALE acute-leukemia cases and common population controls in the 2011 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080942/fullTextXML"; rdfs:comment "Over the study period, 2003–2004, 763 cases and 1,681 controls < 15 years old were included, and the controls were frequency matched with the cases on age and sex." . _:36502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ESCALE"; . _:36512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Escale"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15291; , ; ; "PMID:18454148"; "A German cross-sectional study of early-onset extreme obesity, made up of a case-control study of extremely obese children and adolescents recruited in hospitals specialised in the inpatient treatment of extreme obesity, with healthy lean controls ascertained at the University of Marburg, and a nuclear family study of obese children and adolescents ascertained in the same way together with both their biological parents (the Essen Obesity Trios), whose genotypes have been used in genome-wide association studies of obesity and body mass index."; 487; 442; "ESSEN", "Essen Obesity study"; rdfs:label "Essen Obesity Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15291 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15291; "early onset extreme obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2137937/fullTextXML"; rdfs:comment "487 extremely obese children and adolescents (‘cases’) were recruited in hospitals specialized for the inpatient treatment of extreme obesity (Table 2; mean BMI Z score: 4.63±2.27) while 442 healthy lean individuals (‘controls’) were ascertained at the University of Marburg (Table 2)." . _:36532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2137937/fullTextXML"; rdfs:comment "for early onset extreme obesity based on 487 extremely obese young German individuals and 442 healthy lean German controls" . _:36542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18454148"; "Common variants near MC4R are associated with fat mass, weight and risk of obesity."; "PMID:18454148", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2669167/unicode"; rdfs:comment "Genotypes for a fourth study of childhood BMI (Essen Obesity Study, n = 929) were available from their genome-wide association data." . _:36552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German cross-sectional study of early-onset extreme obesity, made up of a case-control study of extremely obese children and adolescents recruited in hospitals specialised in the inpatient treatment of extreme obesity, with healthy lean controls ascertained at the University of Marburg, and a nuclear family study of obese children and adolescents ascertained in the same way together with both their biological parents (the Essen Obesity Trios), whose genotypes have been used in genome-wide association studies of obesity and body mass index."; "PMID:18159244", "PMID:18454148", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2247/MediaObjects/41588_2012_BFng2247_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 487; "extremely obese children and adolescents (cases) and lean controls of the case-control GWAS sample; the trio part of the study is not counted"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2137937/fullTextXML"; rdfs:comment "487 extremely obese children and adolescents (‘cases’) were recruited in hospitals specialized for the inpatient treatment of extreme obesity (Table 2; mean BMI Z score: 4.63±2.27) while 442 healthy lean individuals (‘controls’) were ascertained at the University of Marburg (Table 2)." . _:36572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 442; "extremely obese children and adolescents (cases) and lean controls of the case-control GWAS sample; the trio part of the study is not counted"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2137937/fullTextXML"; rdfs:comment "487 extremely obese children and adolescents (‘cases’) were recruited in hospitals specialized for the inpatient treatment of extreme obesity (Table 2; mean BMI Z score: 4.63±2.27) while 442 healthy lean individuals (‘controls’) were ascertained at the University of Marburg (Table 2)." . _:36582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ESSEN"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. ESTHER_VERDI is the GECCO colorectal cancer study ESTHER/VERDI (PMID:38561434), which COHO holds on the ESTHER term with the synonyms ESTHER/VERDI and ESTHER II/VERDI. Replaced by COHO:0000665 (Epidemiologische Studie zu Chancen der Verhütung, Früherkennung und optimierten Therapie chronischer Erkrankungen in der älteren Bevölkerung), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Epidemiologische Studie zu Chancen der Verhütung, Früherkennung und optimierten Therapie chronischer Erkrankungen in der älteren Bevölkerung; Verlauf der diagnotischen Abklärung bei Krebspatienten"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15299; , ; "PMID:19959761"; "A prospective cohort of men and women aged 60 to 75 years with established type 2 diabetes living in the Lothian region of central Scotland, randomly selected by sex and age band from the Lothian Diabetes Register and recruited in 2006–2007, established to investigate risk factors for, and mechanisms of, the development and progression of micro- and macrovascular complications of type 2 diabetes and of its less well-characterised complications, with follow-up examinations and linkage to hospital records."; 1066; "ET2DS", "Edinburgh Type 2 diabetes Study"; rdfs:label "Edinburgh Type 2 Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15299; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2621220/fullTextXML"; rdfs:comment "Participants recruited at baseline (2006–2007) constitute 1066 men and women aged 60 to 75 years with established type 2 diabetes, living in the Lothian region of central Scotland." . _:365a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2621220/fullTextXML"; rdfs:comment "Participants recruited at baseline (2006–2007) constitute 1066 men and women aged 60 to 75 years with established type 2 diabetes, living in the Lothian region of central Scotland." . _:365b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19959761"; "Association between raised inflammatory markers and cognitive decline in elderly people with type 2 diabetes: the Edinburgh Type 2 Diabetes Study."; "PMID:19959761", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2828661/fullTextXML"; rdfs:comment "The Edinburgh Type 2 Diabetes Study (ET2DS) tested the association between three markers of inflammation (C-reactive protein [CRP], interleukin [IL]-6, and tumor necrosis factor [TNF]-α) and cognitive impairment in a representative cohort of people with type 2 diabetes." . _:365c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of men and women aged 60 to 75 years with established type 2 diabetes living in the Lothian region of central Scotland, randomly selected by sex and age band from the Lothian Diabetes Register and recruited in 2006–2007, established to investigate risk factors for, and mechanisms of, the development and progression of micro- and macrovascular complications of type 2 diabetes and of its less well-characterised complications, with follow-up examinations and linkage to hospital records."; "PMID:19077235"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:365d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1066; "ET2DS participants recruited at baseline in 2006-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2621220/fullTextXML"; rdfs:comment "Participants recruited at baseline (2006–2007) constitute 1066 men and women aged 60 to 75 years with established type 2 diabetes, living in the Lothian region of central Scotland." . _:365e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ET2DS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15306, _:genid-371333f489424440b12a13b9d98ced822608-genid15308, _:genid-371333f489424440b12a13b9d98ced822608-genid15310; , , , , ; "PMID:31220337"; "A European collaboration, supported by the European Commission's 5th Framework Programme, that established a DNA case-control collection for studying the genetic basis of susceptibility to serious adverse drug reactions, ascertaining cases mainly through adverse drug reaction reports to pharmacovigilance centres; its cases have been used in genetic studies of drug-induced liver injury, statin-induced myopathy and other reactions."; "Eudragene"; rdfs:label "EUDRAGENE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15306 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15308 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15310 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:365f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15306; "adverse drug reactions"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6896237/fullTextXML"; rdfs:comment "EUDRAGENE: European collaboration to establish a case‐control DNA collection for studying the genetic basis of adverse drug reactions." . _:36602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15308; "drug-induced liver injury"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6896237/fullTextXML"; rdfs:comment "EUDRAGENE: European collaboration to establish a case‐control DNA collection for studying the genetic basis of adverse drug reactions." . _:36612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15310; "statin-induced myopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6896237/fullTextXML"; rdfs:comment "EUDRAGENE: European collaboration to establish a case‐control DNA collection for studying the genetic basis of adverse drug reactions." . _:36622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3129430/"; rdfs:comment "Of the 25 cases included in this study, 15 were from Spain, 7 from France and 3 from Italy." . _:36632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6896237/fullTextXML"; rdfs:comment "were recruited using spontaneous adverse drug reaction reports and laboratory CK results from the European pharmacovigilance center and UK primary care practices from 2006−2012 via the EUDRAGENE collaborative network" . _:36642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31220337"; "Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink."; "PMID:31220337", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6896237/fullTextXML"; rdfs:comment "EUDRAGENE cases were combined with the 585 CPRD statin‐tolerant controls to form the “Replication cohort.”" . _:36652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European collaboration, supported by the European Commission's 5th Framework Programme, that established a DNA case-control collection for studying the genetic basis of susceptibility to serious adverse drug reactions, ascertaining cases mainly through adverse drug reaction reports to pharmacovigilance centres; its cases have been used in genetic studies of drug-induced liver injury, statin-induced myopathy and other reactions."; "PMID:16753010", "PMID:18637888", "PMID:21570397", "PMID:31220337"; "Claude Opus 5.5 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15316, _:genid-371333f489424440b12a13b9d98ced822608-genid15318, _:genid-371333f489424440b12a13b9d98ced822608-genid15320; ; "PMID:27647854"; "A European genetic study of diabetic nephropathy and retinopathy in type 1 diabetes, combining a family-based design of affected offspring and their family members with a larger case-control component, whose participants were ascertained through 28 centres across Europe, some of which had taken part in the EURODIAB Prospective Complications Study."; 361; 390; "EURODIAB", "EURODIAB FS"; rdfs:label "EURODIAB Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15316 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15318 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15320 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15316; "diabetic nephropathy"; "https://europepmc.org/api/getPdf?pmcid=PMC7096091"; rdfs:comment "The objective of the EURODIAB FS is to identify genes and pathways involved in the pathogenesis of nephropathy (DN) and retinopathy (DR) in type 1 DM." . _:36672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15318; "type 1 diabetes"; "https://europepmc.org/api/getPdf?pmcid=PMC7096091"; rdfs:comment "The objective of the EURODIAB FS is to identify genes and pathways involved in the pathogenesis of nephropathy (DN) and retinopathy (DR) in type 1 DM." . _:36682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15320; "diabetic retinopathy"; "https://europepmc.org/api/getPdf?pmcid=PMC7096091"; rdfs:comment "The objective of the EURODIAB FS is to identify genes and pathways involved in the pathogenesis of nephropathy (DN) and retinopathy (DR) in type 1 DM." . _:36692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC7096091"; rdfs:comment "Study participants were ascertained through 28 centres across Europe some of which had participated in the EURODIAB Prospective Complications Study." . _:366a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27647854"; "The Genetic Landscape of Renal Complications in Type 1 Diabetes."; "PMID:27647854", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5280020/"; rdfs:comment "The GWAS discovery stage included 3135–5156 subjects with T1D, depending on phenotypic comparison (Supplemental Figure 1), from four studies: FinnDiane,23 the EURODIAB Family Study,24 the Scania Diabetes Registry (SDR),25 and the UK Nephropathy Family Study and Oxford Regional Prospective Study (NFS-ORPS/Cambridge)26,27 (Supplemental Tables 2 and 3, Table 1)." . _:366b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European genetic study of diabetic nephropathy and retinopathy in type 1 diabetes, combining a family-based design of affected offspring and their family members with a larger case-control component, whose participants were ascertained through 28 centres across Europe, some of which had taken part in the EURODIAB Prospective Complications Study."; "PMID:16163567", "PMID:27647854"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:366c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 361; "diabetic nephropathy cases and controls ascertained for the case-control component (retinopathy cases and controls counted separately), 2005"; "https://europepmc.org/api/getPdf?pmcid=PMC7096091"; rdfs:comment "We ascertained 361 DN cases (on dialysis n=85 or persistent macroalbuminuria or elevated serum creatinine n=276),390 DN controls (normoalbuminuria despite more than 19 years of DM and no anti-hypertensive drug use), 347 DR cases (proliferative retinopathy on retinal photo) and 368 DR controls (normal photo despite at least 10 yrs duration of DM)." . _:366d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 390; "diabetic nephropathy cases and controls ascertained for the case-control component (retinopathy cases and controls counted separately), 2005"; "https://europepmc.org/api/getPdf?pmcid=PMC7096091"; rdfs:comment "We ascertained 361 DN cases (on dialysis n=85 or persistent macroalbuminuria or elevated serum creatinine n=276),390 DN controls (normoalbuminuria despite more than 19 years of DM and no anti-hypertensive drug use), 347 DR cases (proliferative retinopathy on retinal photo) and 368 DR controls (normal photo despite at least 10 yrs duration of DM)." . _:366e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EURODIAB"; . _:366f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EURODIAB FS"; . a owl:NamedIndividual, ; , , , , ; , , , , , ; ; "PGS000020", "PMID:22885922"; "A consortium of family-based genetic studies of isolated European populations, funded as a European Union Sixth Framework Programme project, whose samples (the Erasmus Rucphen Family study in the Netherlands, MICROS in South Tyrol, Italy, the Northern Swedish Population Health Study, the Orkney Complex Disease Study in Scotland and the Vis study in Croatia) were genotyped on a common platform and analysed together in genome-wide association studies."; "EUROSPAN", "European Special Population Network", "European Special Population Network consortium", "European Special Population Research Network", "European Special Populations Network"; ; rdfs:label "European Special Populations Research Network"@en . _:36702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "The European Special Populations Network (EUROSPAN) consortium consists of five population samples: (i) the Erasmus Ruchpen Family (ERF) study conducted in The Netherlands, (ii) the MICROS study conducted in Italy, (iii) the Northern Swedish Population (NSP), (iv) the Orkney Complex Disease Study (ORCADES; Scotland) and (v) the Vis study conducted in Croatia." . _:36712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "The European Special Populations Network (EUROSPAN) consortium consists of five population samples: (i) the Erasmus Ruchpen Family (ERF) study conducted in The Netherlands, (ii) the MICROS study conducted in Italy, (iii) the Northern Swedish Population (NSP), (iv) the Orkney Complex Disease Study (ORCADES; Scotland) and (v) the Vis study conducted in Croatia." . _:36722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "The European Special Populations Network (EUROSPAN) consortium consists of five population samples: (i) the Erasmus Ruchpen Family (ERF) study conducted in The Netherlands, (ii) the MICROS study conducted in Italy, (iii) the Northern Swedish Population (NSP), (iv) the Orkney Complex Disease Study (ORCADES; Scotland) and (v) the Vis study conducted in Croatia." . _:36732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "The European Special Populations Network (EUROSPAN) consortium consists of five population samples: (i) the Erasmus Ruchpen Family (ERF) study conducted in The Netherlands, (ii) the MICROS study conducted in Italy, (iii) the Northern Swedish Population (NSP), (iv) the Orkney Complex Disease Study (ORCADES; Scotland) and (v) the Vis study conducted in Croatia." . _:36742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "The European Special Populations Network (EUROSPAN) consortium consists of five population samples: (i) the Erasmus Ruchpen Family (ERF) study conducted in The Netherlands, (ii) the MICROS study conducted in Italy, (iii) the Northern Swedish Population (NSP), (iv) the Orkney Complex Disease Study (ORCADES; Scotland) and (v) the Vis study conducted in Croatia." . _:36752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "The European Special Populations Network (EUROSPAN) consortium consists of five population samples: (i) the Erasmus Ruchpen Family (ERF) study conducted in The Netherlands, (ii) the MICROS study conducted in Italy, (iii) the Northern Swedish Population (NSP), (iv) the Orkney Complex Disease Study (ORCADES; Scotland) and (v) the Vis study conducted in Croatia." . _:36762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000020"; "Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores."; "PMID:27513194" . _:36772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22885922"; "Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes."; "PMID:22885922", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "ARIC deCODE DGDG DGI EUROSPAN FHS FUSION HPFS KORAGen NHS RS1 WTCCC" . _:36782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of family-based genetic studies of isolated European populations, funded as a European Union Sixth Framework Programme project, whose samples (the Erasmus Rucphen Family study in the Netherlands, MICROS in South Tyrol, Italy, the Northern Swedish Population Health Study, the Orkney Complex Disease Study in Scotland and the Vis study in Croatia) were genotyped on a common platform and analysed together in genome-wide association studies."; "PMID:19060911", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3303225/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EUROSPAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15339; , , ; "PGS005202", "PMID:33209044"; "A case-control study of polycystic ovary syndrome (PCOS) in Korean women, whose women with PCOS and control women with regular menstrual cycles were recruited at the endocrinology and gynaecology clinics of Ewha Womans University Hospital (Mokdong Hospital) in Seoul, South Korea, from December 2008 to 2010, and genotyped for a genome-wide association study of PCOS."; 883; 927; 1810; "EWUH-PCOS", "Ewha Woman's University Hospital PCOS Study", "Ewha Woman’s University Hospital PCOS GWAS", "Ewha Woman’s University Hospital PCOS study", "pcosN"; ; rdfs:label "Ewha Womans University Hospital PCOS Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15339 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:367a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15339; "polycystic ovary syndrome"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7670174/"; rdfs:comment "Subjects for the PCOS GWAS consisting of 1000 PCOS cases and 1000 controls were recruited from the endocrinology and gynecology clinics at Ewha Woman’s University Hospital for the Mendelian randomization analysis between obesity traits and PCOS." . _:367b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7320020/"; rdfs:comment "The subjects were recruited from 2008 to 2010 at the Endocrinology and Gynecology Clinics at Ewha Womans University Mokdong Hospital, Seoul, South Korea." . _:367c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005202"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:367d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33209044"; "Identification of Genetic Variants for Female Obesity and Evaluation of the Causal Role of Genetically Defined Obesity in Polycystic Ovarian Syndrome."; "PMID:33209044", "https://pmc.ncbi.nlm.nih.gov/articles/PMC7670174/"; rdfs:comment "Subjects from the Ewha Woman’s University Hospital PCOS GWAS were genotyped using the HumanOmni-Quad v I array (Illumina)." . _:367e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of polycystic ovary syndrome (PCOS) in Korean women, whose women with PCOS and control women with regular menstrual cycles were recruited at the endocrinology and gynaecology clinics of Ewha Womans University Hospital (Mokdong Hospital) in Seoul, South Korea, from December 2008 to 2010, and genotyped for a genome-wide association study of PCOS."; "PMID:26308735", "PMID:32591571", "PMID:33209044"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:367f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 883; "women recruited (PCOS cases and controls), 2010"; "PMID:32591571"; rdfs:comment "A total of 1,810 reproductive-aged women were recruited, including 927 control women and 883 women with PCOS, diagnosed based on the European Society for Human Reproduction and Embryology criteria." . _:36802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 927; "women recruited (PCOS cases and controls), 2010"; "PMID:32591571"; rdfs:comment "A total of 1,810 reproductive-aged women were recruited, including 927 control women and 883 women with PCOS, diagnosed based on the European Society for Human Reproduction and Embryology criteria." . _:36812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1810; "women recruited (PCOS cases and controls), 2010"; "PMID:32591571"; rdfs:comment "A total of 1,810 reproductive-aged women were recruited, including 927 control women and 883 women with PCOS, diagnosed based on the European Society for Human Reproduction and Embryology criteria." . _:36822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EWUH-PCOS"; . _:36832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "pcosN"; . a owl:NamedIndividual, ; , ; , ; "PGS005203", "PMID:40691366"; "An unselected population cohort of adult volunteers in South West England, recruited from 2010 to 2018 through general practices, workplaces, community events and local media, whose samples are held in the Peninsula Research Bank, run by the NIHR Exeter Clinical Research Facility as a recall-by-genotype resource for research on type 2 diabetes, cardiovascular disease and healthy ageing."; 11074; "EXTEND", "EXTEND/PRB", "Exeter 10,000", "Exeter 10,000 cohort", "Exeter 10,000 study", "Exeter 10,000/Peninsula Research Bank", "Exeter 10000"; ; rdfs:label "Exeter 10,000 Study"@en . _:36842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8377980/fullTextXML"; rdfs:comment "EXTEND/PRB is an unselected population cohort of 11,074 participants, 8295 without known diabetes, recruited from the community and primary care in the South West, UK." . _:36852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:36862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "EXTEND | Exeter 10,000 Study | EUR | 6200" . _:36872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An unselected population cohort of adult volunteers in South West England, recruited from 2010 to 2018 through general practices, workplaces, community events and local media, whose samples are held in the Peninsula Research Bank, run by the NIHR Exeter Clinical Research Facility as a recall-by-genotype resource for research on type 2 diabetes, cardiovascular disease and healthy ageing."; "PMID:29459775", "PMID:34412655"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11074; "participants recruited January 2010 to April 2018 (2010-2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8377980/fullTextXML"; rdfs:comment "EXTEND/PRB is an unselected population cohort of 11,074 participants, 8295 without known diabetes, recruited from the community and primary care in the South West, UK." . _:36892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EXTEND"; . _:368a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EXTEND/PRB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15357; , , , , , ; "PMID:37404302"; "A school-based population study of risk factors for future cardiovascular disease in children aged 9 and 15 years, randomly sampled through schools in Denmark, Estonia, Norway, Portugal and Sweden in the late 1990s, with objectively measured physical activity and fitness; its Danish part, recruited in 1997, has been followed longitudinally into early adulthood."; 399; "EYHS", "European youth heart study", "The European Youth Heart Study"; rdfs:label "European Youth Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15357 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:368b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15357; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10315841/fullTextXML"; rdfs:comment "The other cohort is the European Youth Heart Study (EYHS), which is an international, population-based, multicentre study that addresses cardiovascular disease risk factors in children and adolescents." . _:368c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14707773+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Subjects were 2185 children aged 9 and 15 yr from Denmark, Portugal, Estonia, and Norway." . _:368d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12740078+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Thirty-seven state schools in two regions of Central Sweden (Orebro and southern Stockholm) were visited during the school year 1998/1999." . _:368e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37404302"; "Bidirectional associations between adiposity and physical activity: a longitudinal study from pre-puberty to early adulthood."; "PMID:37404302", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37404302+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the European Youth Heart Study (EYHS), height, weight and habitual PA were measured at age 9.6-years, 15.7-years and 21.8-years in 399 Danish boys and girls." . _:368f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A school-based population study of risk factors for future cardiovascular disease in children aged 9 and 15 years, randomly sampled through schools in Denmark, Estonia, Norway, Portugal and Sweden in the late 1990s, with objectively measured physical activity and fitness; its Danish part, recruited in 1997, has been followed longitudinally into early adulthood."; "PMID:12740078", "PMID:14707773", "PMID:32871146", "PMID:37404302"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 399; "Danish EYHS longitudinal sample measured at three ages in the 2023 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10315841/fullTextXML"; rdfs:comment "In the European Youth Heart Study (EYHS), height, weight and habitual PA were measured at age 9.6-years, 15.7-years and 21.8-years in 399 Danish boys and girls." . _:36912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EYHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15365; , ; "PMID:28053049"; "A family study of five extended French-Canadian pedigrees, identified between 2005 and 2006 at the Thrombosis Clinic of the Ottawa Hospital, Canada, through single probands with objectively diagnosed idiopathic venous thromboembolism who carried the factor V Leiden mutation, whose consenting relatives were genotyped genome-wide and measured for plasma haemostatic factors."; 255; "F5L", "F5L Family Study", "F5L Thrombophilia French-Canadian Pedigree study", "F5L family", "F5L family study", "F5L-families study", "F5Leiden", "F5Leiden Cohort", "French-Canadian FVL family study", "French-Canadian family study on Factor V Leiden"; rdfs:label "French-Canadian Family Study on Factor V Leiden Thrombophilia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15365 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15365; "venous thrombosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4179266/fullTextXML"; rdfs:comment "The family study is composed of five extended French-Canadian pedigrees, totaling 255 relatives, ascertained at the Thrombosis Clinic of the Ottawa Hospital through single probands with idiopathic VT and heterozygote for the Factor V Leiden mutation." . _:36932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6544906/"; rdfs:comment "Probands were identified from the Thrombosis Clinic of The Ottawa Hospital, Ottawa, Canada, between 2005 and 2006, and had idiopathic, objectively diagnosed VTE, and carried the FV Leiden (F5L) mutation." . _:36942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28053049"; "Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels."; "PMID:28053049", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5703348/"; rdfs:comment "The study consists of a discovery sample of 16,169 individuals of European ancestry from five studies (ARIC, PROCARDIS, GHS-1, GHS-2, and MARTHA) and a replication sample of 2,045 individuals from three studies (F5Leiden Cohort, MEGA, and GAIT2); for details, see Supplementary Material, Table S1." . _:36952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of five extended French-Canadian pedigrees, identified between 2005 and 2006 at the Thrombosis Clinic of the Ottawa Hospital, Canada, through single probands with objectively diagnosed idiopathic venous thromboembolism who carried the factor V Leiden mutation, whose consenting relatives were genotyped genome-wide and measured for plasma haemostatic factors."; "PMID:21810271", "PMID:25265411", "PMID:27490645", "PMID:28894120"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 255; "members of the five families who consented to take part (2005-2006)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5593822/fullTextXML"; rdfs:comment "The French-Canadian Family study on Factor V Leiden (F5L) Thrombophilia (henceforth the F5L family study) included 369 individuals from 5 extended families27 of which 255 invited subjects consented to participate in the study." . _:36972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F5L"; . _:36982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "F5Leiden"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15373; , ; , ; "PMID:20453838"; "A study coordinated from the Institute of Cancer Research, Sutton, that from 1995 recruited people with breast cancer and a family history of the disease, as the index cases of their families, through cancer genetics clinics throughout the United Kingdom, whose clinicians and counsellors formed the Breast Cancer Susceptibility Collaboration (UK), for research into inherited susceptibility to breast cancer."; "The acronym FBCS also denotes French Bladder Cancer Study (COHO:0000824); this term is Familial Breast Cancer Study."@en; 3652; "FBCS", "Genetics of Familial Breast Cancer Study", "ICR Familial Breast Cancer Study"; rdfs:label "Familial Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15373 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15373; "breast cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3632835/unicode"; rdfs:comment "Cases were unrelated individuals with breast cancer and a family history of breast cancer that were recruited through cancer genetics clinics in the UK, through the Genetics of Familial Breast Cancer Study." . _:369a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3632836"; rdfs:comment "Three thousand nine hundred and sixty breast cancer cases were used in stage 1, of which 3,652 were from cancer genetics clinics in the UK recruited through the Familial Breast Cancer Study (FBCS) and 308 were from oncology clinics in the UK recruited through the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study." . _:369b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20453838"; "Genome-wide association study identifies five new breast cancer susceptibility loci."; "PMID:20453838", "https://europepmc.org/api/getPdf?pmcid=PMC3632836"; rdfs:comment "Three thousand nine hundred and sixty breast cancer cases were used in stage 1, of which 3,652 were from cancer genetics clinics in the UK recruited through the Familial Breast Cancer Study (FBCS) and 308 were from oncology clinics in the UK recruited through the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study." . _:369c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study coordinated from the Institute of Cancer Research, Sutton, that from 1995 recruited people with breast cancer and a family history of the disease, as the index cases of their families, through cancer genetics clinics throughout the United Kingdom, whose clinicians and counsellors formed the Breast Cancer Susceptibility Collaboration (UK), for research into inherited susceptibility to breast cancer."; "PMID:20453838", "PMID:20512659", "PMID:25855707"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:369d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3652; "FBCS breast cancer cases in stage 1 of the 2010 GWAS (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3632836/"; rdfs:comment "Three thousand nine hundred and sixty breast cancer cases were used in stage 1, of which 3,652 were from cancer genetics clinics in the UK recruited through the Familial Breast Cancer Study (FBCS) and 308 were from oncology clinics in the UK recruited through the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study." . _:369e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15380; , ; "PMID:21655089"; "A population-based series of colorectal cancer patients, run from the University of Helsinki, in which tumour and normal tissue were collected from consecutive newly diagnosed patients at nine central hospitals in south-eastern Finland in 1994–1998, and afterwards at two of them, to find hereditary nonpolyposis colorectal cancer and other inherited predisposition to colorectal cancer; its genetic association studies compared the patients with Finnish blood donors from the same region."; 1514; "FCCPS"; rdfs:label "Finnish Colorectal Cancer Predisposition Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15380 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:369f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15380; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2836775/"; rdfs:comment "FCCPS: 962 CRC cases (509 males, 452 females, one unknown; mean age at diagnosis 66.9 years; s.d. ± 12.2) and 846 controls (randomly selected anonymous Finnish blood donors) ascertained in southeastern Finland." . _:36a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3107194/fullTextXML"; rdfs:comment "The Helsinki (FCCPS) study (http://research.med.helsinki.fi/gsb/aaltonen/) comprised 988 cases from a population-based collection centred on south-eastern Finland and 864 population controls from the same collection." . _:36a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21655089"; "Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer."; "PMID:21655089", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3107194/fullTextXML"; rdfs:comment "The Helsinki (FCCPS) study (http://research.med.helsinki.fi/gsb/aaltonen/) comprised 988 cases from a population-based collection centred on south-eastern Finland and 864 population controls from the same collection." . _:36a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based series of colorectal cancer patients, run from the University of Helsinki, in which tumour and normal tissue were collected from consecutive newly diagnosed patients at nine central hospitals in south-eastern Finland in 1994–1998, and afterwards at two of them, to find hereditary nonpolyposis colorectal cancer and other inherited predisposition to colorectal cancer; its genetic association studies compared the patients with Finnish blood donors from the same region."; "PMID:10829038", "PMID:19011631", "PMID:19920828", "PMID:20501757", "PMID:24146633"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1514; "consecutive colorectal cancer patients in the series (2013)"; "PMID:24146633"; rdfs:comment "To identify susceptibility genes for this common phenotype, we examined familial cases derived from a consecutive series of 1514 Finnish CRC patients." . _:36a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FCCPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15387, _:genid-371333f489424440b12a13b9d98ced822608-genid15389; , , ; ; "PGS000801", "PMID:25105248"; "A community-based case-control study of colorectal cancer among residents of Fukuoka City and three adjacent areas of Japan, comparing patients having surgery for a first diagnosis of colorectal cancer at eight hospitals, interviewed from 2000 to 2003, with community controls randomly selected and frequency-matched on sex, age and residence, surveyed in 2001 and 2002; diet and lifestyle were assessed by in-person interview and blood was taken for genotyping, to study dietary, behavioural and genetic factors in colorectal carcinogenesis."; "The acronym CAGE-Fukuoka also denotes Kyushu University Fukuoka Cohort Study (COHO:0001557); this term is Fukuoka Colorectal Cancer Study."@en; 840; 833; "CAGE-Fukuoka", "FCCS", "Fukuoka colorectal cancer study"; ; rdfs:label "Fukuoka Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15389 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15387; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15546244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A case-control study was designed to elucidate roles of dietary and other behavioral influences, in combination with genetic susceptibility factors (genetic polymorphisms), in colorectal carcinogenesis." . _:36a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15389; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15546244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A case-control study was designed to elucidate roles of dietary and other behavioral influences, in combination with genetic susceptibility factors (genetic polymorphisms), in colorectal carcinogenesis." . _:36a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15546509+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study investigated the relation of MTHFR C677T and A1298C polymorphisms to colorectal cancer in a case-control study in Fukuoka, Japan." . _:36a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000801"; "Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies."; "PMID:31038671" . _:36a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25105248"; "Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A."; "PMID:25105248", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The Fukuoka Colorectal Cancer Study was funded by the Ministry of Education, Culture, Sports, Science and Technology, Japan." . _:36aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based case-control study of colorectal cancer among residents of Fukuoka City and three adjacent areas of Japan, comparing patients having surgery for a first diagnosis of colorectal cancer at eight hospitals, interviewed from 2000 to 2003, with community controls randomly selected and frequency-matched on sex, age and residence, surveyed in 2001 and 2002; diet and lifestyle were assessed by in-person interview and blood was taken for genotyping, to study dietary, behavioural and genetic factors in colorectal carcinogenesis."; "PMID:15546244"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 840; "Interviewed Fukuoka CRC cases and controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15546244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 840 cases of colorectal cancer and 833 controls were interviewed with participation rates of 80% for the cases and 60% for the controls." . _:36ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 833; "Interviewed Fukuoka CRC cases and controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15546244+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 840 cases of colorectal cancer and 833 controls were interviewed with participation rates of 80% for the cases and 60% for the controls." . _:36ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAGE-Fukuoka"; . _:36ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15399; , ; "PGS000021", "PMID:38224531"; "A community-based longitudinal observational study of people with known diabetes living in a postcode-defined area around the port city of Fremantle, Western Australia, run in two separately recruited phases, Phase I (1993–1996) and Phase II (2008–2011). Participants were identified from hospital, clinic and primary-care lists and local advertising, assessed in detail at entry and followed for diabetes complications and mortality."; 1668; "FDS", "Fremantle Diabetes Study Phase 2", "Fremantle Diabetes Study Phase II", "Fremantle diabetes study phase II"; ; rdfs:label "Fremantle Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15399 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15399; "diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9820984/fullTextXML"; rdfs:comment "In FDS2, 4639 people with diabetes were identified from a population of approximately 157,000, and 1668 (36%) recruited of whom 1509 (90%) had type 2 diabetes." . _:36b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9820984/fullTextXML"; rdfs:comment "FDS1 and FDS2 were similarly conducted, observational, longitudinal studies of known diabetes conducted in the same zip code-defined geographic area surrounding the port city of Fremantle in Western Australia (WA)" . _:36b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000021"; "Use of a type 1 genetic risk score for classification of diabetes type in young Australian adults: the Fremantle Diabetes Study Phase II."; "PMID:38224531" . _:36b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38224531"; "Use of a type 1 genetic risk score for classification of diabetes type in young Australian adults: the Fremantle Diabetes Study Phase II."; "PMID:38224531", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38224531+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The applicability of a UK-validated genetic risk score (GRS) was assessed in 158 participants in the Fremantle Diabetes Study Phase II diagnosed between 20 and <40 years of age with type 1 or type 2 diabetes or latent autoimmune diabetes of adults (LADA)." . _:36b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based longitudinal observational study of people with known diabetes living in a postcode-defined area around the port city of Fremantle, Western Australia, run in two separately recruited phases, Phase I (1993–1996) and Phase II (2008–2011). Participants were identified from hospital, clinic and primary-care lists and local advertising, assessed in detail at entry and followed for diabetes complications and mortality."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11981027/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9820984/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1668; "Fremantle Diabetes Study Phase II recruits, 2008-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9820984/fullTextXML"; rdfs:comment "In FDS2, 4639 people with diabetes were identified from a population of approximately 157,000, and 1668 (36%) recruited of whom 1509 (90%) had type 2 diabetes." . _:36b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FDS"; . a owl:NamedIndividual, ; , ; ; "PGS003860", "PMID:29808027"; "The unaffected controls of a multicentre genetic study of Fuchs endothelial corneal dystrophy in the United States: people of European descent aged 60 or older, recruited at the study's clinical sites and matched by age, sex and ancestry to its index cases, whose corneas were graded free of the dystrophy on slit-lamp examination and whose refractive error and central corneal thickness were measured at baseline."; 304; "FECD", "Fuchs’ Endothelial Corneal Dystrophy Controls"; ; rdfs:label "Fuchs Endothelial Corneal Dystrophy Controls"@en . _:36b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0127-7/MediaObjects/41588_2018_127_MOESM1_ESM.pdf"; rdfs:comment "FECD United States case-control (controls only) 393 71.50(9.18) 60.2 -0.14(2.49)" . _:36b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003860"; "A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration."; "PMID:37055258" . _:36b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29808027"; "Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error."; "PMID:29808027", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0127-7/MediaObjects/41588_2018_127_MOESM1_ESM.pdf"; rdfs:comment "We utilized control subjects who were part of a larger study on the genetics of Fuchs‟ Endothelial Corneal Dystrophy (FECD)10 ." . _:36b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The unaffected controls of a multicentre genetic study of Fuchs endothelial corneal dystrophy in the United States: people of European descent aged 60 or older, recruited at the study's clinical sites and matched by age, sex and ancestry to its index cases, whose corneas were graded free of the dystrophy on slit-lamp examination and whose refractive error and central corneal thickness were measured at baseline."; "PMID:22045388", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0127-7/MediaObjects/41588_2018_127_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 304; "age-, gender- and ethnicity-matched controls recruited by the FECD Genetics Multi-Center Study (2006-2009)"; "PMID:22045388"; rdfs:comment "Three hundred and four age, gender and ethnicity matched controls were recruited." . _:36bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FECD"; . a owl:NamedIndividual, ; , ; "PMID:38555241"; "A family-based longitudinal study of growth, development and body composition begun in 1929 in Yellow Springs, Ohio, United States, whose participants are usually enrolled at birth and followed with serial examinations until death or infirmity, now run under Wright State University in Dayton, Ohio, with genotype data used in genetic analyses of adiposity and liver fat."; 1612; "FELS LONGITUDINAL STUDY", "FLS", "Fels", "Fels longitudinal study"; rdfs:label "Fels Longitudinal Study"@en . _:36bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13208267/fullTextXML"; rdfs:comment "This study was a cross-sectional analysis of existing data from the Fels Longitudinal Study (FLS), a family-based study of growth, development, and body composition that began in 1929 in Yellow Spring, Ohio." . _:36bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38555241"; "Genetic correlations between liver fat content, metabolic health, and adiposity distribution in the Fels Longitudinal Study."; "PMID:38555241", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38555241+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "704 participants (18-95 years, 55.8% female) from the Fels Longitudinal Study with an MRI assessment of liver fat were included." . _:36be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based longitudinal study of growth, development and body composition begun in 1929 in Yellow Springs, Ohio, United States, whose participants are usually enrolled at birth and followed with serial examinations until death or infirmity, now run under Wright State University in Dayton, Ohio, with genotype data used in genetic analyses of adiposity and liver fat."; "PMID:40429953", "PMID:40918029", "PMID:42188008"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1612; "children aged 0-18 in the study's data set in 2017 (adult enrollees and family members not counted)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5478810/fullTextXML"; rdfs:comment "There are a total of 1,612 children aged 0–18 years in the current Fels data set." . _:36c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLS"; . _:36c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fels"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15419, _:genid-371333f489424440b12a13b9d98ced822608-genid15421, _:genid-371333f489424440b12a13b9d98ced822608-genid15423, _:genid-371333f489424440b12a13b9d98ced822608-genid15425; , ; ; "PGS000350", "PMID:25173106"; "An ophthalmological study nested within the Framingham Heart Study in Framingham, Massachusetts, United States, in which participants of the Heart Study's original cohort were given eye examinations in 1973–1975 to evaluate senile cataract, age-related macular degeneration, glaucoma and retinopathy, and offspring of the original participants were examined in 1989–1991."; 2675; "FES", "FRAM"; ; rdfs:label "Framingham Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15419 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15421 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15425 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15419; "macular degeneration"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A879158+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "During the period 1973--1975, 2675 out of 3977 still-living members of the Framingham, Massachusetts, study population, who have been under investigation for coronary disease risk factors since 1948 and who were in 1973--1975 aged 52 to 85, were given an eye examination stressing cataract, diabetic retinopathy, macular degeneration and glaucoma." . _:36c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15421; "glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A879158+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "During the period 1973--1975, 2675 out of 3977 still-living members of the Framingham, Massachusetts, study population, who have been under investigation for coronary disease risk factors since 1948 and who were in 1973--1975 aged 52 to 85, were given an eye examination stressing cataract, diabetic retinopathy, macular degeneration and glaucoma." . _:36c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15423; "cataract"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A879158+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "During the period 1973--1975, 2675 out of 3977 still-living members of the Framingham, Massachusetts, study population, who have been under investigation for coronary disease risk factors since 1948 and who were in 1973--1975 aged 52 to 85, were given an eye examination stressing cataract, diabetic retinopathy, macular degeneration and glaucoma." . _:36c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15425; "diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A879158+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "During the period 1973--1975, 2675 out of 3977 still-living members of the Framingham, Massachusetts, study population, who have been under investigation for coronary disease risk factors since 1948 and who were in 1973--1975 aged 52 to 85, were given an eye examination stressing cataract, diabetic retinopathy, macular degeneration and glaucoma." . _:36c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3087/MediaObjects/41588_2014_BFng3087_MOESM36_ESM.pdf"; rdfs:comment "The Framingham Eye Study16 (FES) was nested within the Framingham Heart Study (FHS, http://www.framinghamheartstudy.org), which began its first round of extensive physical examinations in 1948 by recruiting 5,209 men and women from the town of Framingham, MA, USA." . _:36c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3087/MediaObjects/41588_2014_BFng3087_MOESM36_ESM.pdf"; rdfs:comment "The Framingham Eye Study is a sub-study of the Framingham Heart Study, which is conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with Boston University (Contract No. N01-HC-25195)." . _:36c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:36c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25173106"; "Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma."; "PMID:25173106", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3087/MediaObjects/41588_2014_BFng3087_MOESM36_ESM.pdf"; rdfs:comment "The Framingham Eye Study16 (FES) was nested within the Framingham Heart Study (FHS, http://www.framinghamheartstudy.org), which began its first round of extensive physical examinations in 1948 by recruiting 5,209 men and women from the town of Framingham, MA, USA." . _:36ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ophthalmological study nested within the Framingham Heart Study in Framingham, Massachusetts, United States, in which participants of the Heart Study's original cohort were given eye examinations in 1973–1975 to evaluate senile cataract, age-related macular degeneration, glaucoma and retinopathy, and offspring of the original participants were examined in 1989–1991."; "PMID:141882", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0127-7/MediaObjects/41588_2018_127_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2675; "surviving Framingham Heart Study original-cohort members, aged 52-85, given eye examinations in 1973-1975"; "PMID:879158"; rdfs:comment "During the period 1973--1975, 2675 out of 3977 still-living members of the Framingham, Massachusetts, study population, who have been under investigation for coronary disease risk factors since 1948 and who were in 1973--1975 aged 52 to 85, were given an eye examination stressing cataract, diabetic retinopathy, macular degeneration and glaucoma." . _:36cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FES"; . _:36cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRAM"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The Finnish Genome Center is a genotyping laboratory of the University of Helsinki, now the FIMM Technology Centre (PMID:20159113): an institution, not a sample. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Finnish Genome Center"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15435; , ; "PMID:22982992"; "A prospective case-control study run from the University of Oulu that since 1998 has collected medical records and medicolegal autopsy data from consecutive victims of out-of-hospital sudden cardiac death in the Oulu University Hospital District, northern Finland, with survivors of an acute coronary event treated at Oulu University Hospital as controls, to study the characteristics and genetic background of sudden cardiac death."; 5869; 5869; "FINGEST", "FINGESTURE", "FinGesture", "Fingesture", "Finnish Genetic Study for Arrhythmic Events"; rdfs:label "Finnish Genetic Study of Arrhythmic Events"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15435 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15435; "sudden cardiac death"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9748531/fullTextXML"; rdfs:comment "The Fingesture study included all victims of sudden death that were determined to be due to cardiac disease." . _:36cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9748531/fullTextXML"; rdfs:comment "The study population is derived from The Finnish Genetic Study of Arrhythmic Events (Fingesture) which has gathered medical records and medicolegal autopsy data from 5869 consecutive SCD victims since 1998 from the Oulu University Hospital District (defined geographical area in northern Finland, population ≈600 000)." . _:36d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22982992"; "FTO genotype is associated with phenotypic variability of body mass index."; "PMID:22982992", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature11401/MediaObjects/41586_2012_BFnature11401_MOESM14_ESM.pdf"; rdfs:comment "The FinGesture cohort is supported by the Juselius Foundation (Helsinki, Finland) and the Council of Health of the Academy of Finland (Helsinki, Finland)." . _:36d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective case-control study run from the University of Oulu that since 1998 has collected medical records and medicolegal autopsy data from consecutive victims of out-of-hospital sudden cardiac death in the Oulu University Hospital District, northern Finland, with survivors of an acute coronary event treated at Oulu University Hospital as controls, to study the characteristics and genetic background of sudden cardiac death."; "PMID:21738491", "PMID:36172703", "https://clinicaltrials.gov/api/v2/studies/NCT02075866"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5869; "consecutive autopsy-verified sudden cardiac death victims 1998-2017"; "PMID:36172703"; rdfs:comment "The study population is derived from the Fingesture study, which has collected data from 5869 consecutive autopsy-verified SCD victims in Northern Finland (population ≈600 000) between 1998 and 2017." . _:36d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5869; "consecutive autopsy-verified sudden cardiac death victims 1998-2017"; "PMID:36172703"; rdfs:comment "The study population is derived from the Fingesture study, which has collected data from 5869 consecutive autopsy-verified SCD victims in Northern Finland (population ≈600 000) between 1998 and 2017." . _:36d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FINGEST"; . _:36d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FINGESTURE"; . _:36d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinGesture"; . _:36d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fingesture"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15446, _:genid-371333f489424440b12a13b9d98ced822608-genid15448, _:genid-371333f489424440b12a13b9d98ced822608-genid15450, _:genid-371333f489424440b12a13b9d98ced822608-genid15452; , ; , ; "PGS004909", "PMID:26407342"; "A population-based longitudinal study of Finnish twins from five consecutive birth cohorts (1975–1979) and their families, one of the three cohorts of the Finnish Twin Cohort Study, begun in 1991 with baseline assessments of the twins and their parents when the twins were aged 16 and followed with questionnaire waves at ages 17 and 18½, in young adulthood and later, the fifth wave also assessing the twins' spouses or partners."; 5600; "FT16", "FinnTwin16 Cohort", "FinnTwin16 study", "Finntwin16", "Finntwin16 study"; ; rdfs:label "FinnTwin16"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15446 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15448 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15450 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15452 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15446; "alcohol use"; "https://doi.org/10.1017/thg.2019.106"; rdfs:comment "The main areas addressed are alcohol use and its consequences, smoking, physical activity, overall physical health, eating behaviors and eating disorders, weight development, obesity, life satisfaction and personality." . _:36d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15448; "smoking"; "https://doi.org/10.1017/thg.2019.106"; rdfs:comment "The main areas addressed are alcohol use and its consequences, smoking, physical activity, overall physical health, eating behaviors and eating disorders, weight development, obesity, life satisfaction and personality." . _:36da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15450; "physical activity"; "https://doi.org/10.1017/thg.2019.106"; rdfs:comment "The main areas addressed are alcohol use and its consequences, smoking, physical activity, overall physical health, eating behaviors and eating disorders, weight development, obesity, life satisfaction and personality." . _:36db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15452; "alcoholism"; "https://doi.org/10.1017/thg.2019.106"; rdfs:comment "FT16 was initiated in 1991 to identify the genetic and environmental precursors of alcoholism, but later the scope of the project expanded to studying the determinants of various health-related behaviors and diseases in different stages of life." . _:36dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4583245/fullTextXML"; rdfs:comment "FinnTwin16 is a population–based longitudinal study of five consecutive birth cohorts (1975–1979) of Finnish twins and their families [25, 26]." . _:36dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004909"; "Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity."; "PMID:30815984" . _:36de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26407342"; "A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism."; "PMID:26407342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4583245/fullTextXML"; rdfs:comment "FinnTwin16 is a population–based longitudinal study of five consecutive birth cohorts (1975–1979) of Finnish twins and their families [25, 26]." . _:36df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal study of Finnish twins from five consecutive birth cohorts (1975–1979) and their families, one of the three cohorts of the Finnish Twin Cohort Study, begun in 1991 with baseline assessments of the twins and their parents when the twins were aged 16 and followed with questionnaire waves at ages 17 and 18½, in young adulthood and later, the fifth wave also assessing the twins' spouses or partners."; "PMID:23298696", "PMID:26407342"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5600; "twin individuals in the cohort, given as approximately 5600"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41562-025-02193-7/MediaObjects/41562_2025_2193_MOESM1_ESM.pdf"; rdfs:comment "FT16: FinnTwin16 (FT16) cohort including Finnish twins born in 1975–1979 and identified from the population register (n = ∼5600 twin individuals)." . _:36e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FT16"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15460; , ; ; "PMID:38671483"; "A population-based longitudinal cohort of twins from same-sex pairs born in Finland before 1958, identified from the population register and established in 1974, who answered health questionnaires in 1975, 1981, 1990 and 2011–2012, were screened for dementia in later waves, took part in clinical studies of subsamples and are followed up through national medical registers; it was expanded to opposite-sex pairs born 1938–1957, and is the oldest of the three Finnish Twin Cohorts."; "The acronym FTC also denotes Finnish Twin Cohort Study (COHO:0000070) and NCI Familial Testicular Cancer Study (COHO:0000825); this term is Older Finnish Twin Cohort."@en; 31145; "FTC", "FinnTwinOld", "Older Twin Cohort", "The Older Finnish Twin Cohort", "older Finnish Twin Cohort", "older Finnish Twin Cohort Study", "older Finnish Twin Cohort study"; rdfs:label "Older Finnish Twin Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15460 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15460; "smoking"; "https://doi.org/10.1017/thg.2019.54"; rdfs:comment "Since its establishment, the FTC has been hosted by the University of Helsinki and the primary goal in the 1970s and early 1980s was to study twin-pairs discordant for smoking, as the causal evidence for smoking in major diseases was still lacking." . _:36e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046842/fullTextXML"; rdfs:comment "The participants of this study were from the older Finnish Twin Cohort study, which is a longitudinal population-based study of twins from same-sex pairs born in Finland before 1958 (N=13,888) [24, 25]." . _:36e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38671483"; "Longitudinal leisure-time physical activity profiles throughout adulthood and related characteristics: a 36-year follow-up study of the older Finnish Twin Cohort."; "PMID:38671483", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11046842/fullTextXML"; rdfs:comment "We included 2,778 females and 1,938 males from the population-based older Finnish Twin Cohort Study, who responded to health and behavior surveys at the mean ages of 24, 30, 40 and 60." . _:36e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of twins from same-sex pairs born in Finland before 1958, identified from the population register and established in 1974, who answered health questionnaires in 1975, 1981, 1990 and 2011–2012, were screened for dementia in later waves, took part in clinical studies of subsamples and are followed up through national medical registers; it was expanded to opposite-sex pairs born 1938–1957, and is the oldest of the three Finnish Twin Cohorts."; "PMID:12537859", "PMID:23298696", "PMID:31462340", "PMID:38671483"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 31145; "individuals who replied to the 1975 baseline questionnaire (including 1,175 who said they were not biological twins)"; "https://doi.org/10.1017/thg.2025.10025"; rdfs:comment "A total of 36,922 individuals were invited in 1975, of which 31,145 replied (response rate of 84.6%)." . _:36e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FTC"; . _:36e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinnTwinOld"; . a owl:NamedIndividual, ; , ; , , ; "PGS000200", "PMID:23599444"; "The 1997 survey of the National FINRISK Study, a population-based cross-sectional survey of a stratified random sample of people aged 25–74 living in five geographical areas of Finland (the Helsinki, southwestern Finland, North Karelia, Oulu and Kuopio regions), examined for chronic-disease risk factors and followed up for incident cardiovascular disease and mortality."; 8191; "FINRISK 1997 cohort", "FINRISK97"; ; rdfs:label "FINRISK 1997"@en . _:36e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The FINRISK97 study is a population-based cross-sectional survey which consists of 8,191 people aged 25–74 years from five geographical areas of Finland (the Helsinki, southwestern Finland, North Karelia, Oulu, and Kuopio regions) (21)." . _:36ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000200"; "Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease."; "PMID:23599444" . _:36eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23599444"; "Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease."; "PMID:23599444", "https://europepmc.org/api/getPdf?pmcid=PMC4210840"; rdfs:comment "In total, 24,124 subjects from FINRISK 1992, FINRISK 1997, FINRISK 2002 and Health 2000 cohorts were included in the analysis." . _:36ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The 1997 survey of the National FINRISK Study, a population-based cross-sectional survey of a stratified random sample of people aged 25–74 living in five geographical areas of Finland (the Helsinki, southwestern Finland, North Karelia, Oulu and Kuopio regions), examined for chronic-disease risk factors and followed up for incident cardiovascular disease and mortality."; "PMID:18678614", "PMID:23599444", "PMID:31431621"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8191; "people aged 25-74 in the 1997 survey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2570409/fullTextXML"; rdfs:comment "The FINRISK97 study is a population-based cross-sectional survey which consists of 8,191 people aged 25–74 years from five geographical areas of Finland (the Helsinki, southwestern Finland, North Karelia, Oulu, and Kuopio regions) (21)." . _:36ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FINRISK97"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15474; , ; ; "PGS000714", "PMID:33051487"; "A randomised trial of prostate-cancer screening in Finland, the largest component of the European Randomized Study of Screening for Prostate Cancer, enrolling men aged 55–67 during 1996–1999 and inviting those randomised to its screening arm to prostate-specific-antigen-based screening at four-year intervals."; 80458; "FinRSPC", "Finnish Randomised Study of Screening for Prostate Cancer"; ; rdfs:label "Finnish Randomized Study of Screening for Prostate Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15474 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15474; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7553910/fullTextXML"; rdfs:comment "Briefly, 80,458 men aged 55–67 years were enrolled during 1996–1999, with 32,000 randomised to the screening arm and invited to PSA-based screenings at four-year intervals." . _:36f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33051487+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this Finnish population-based retrospective study 2283 clinically diagnosed and 455 screen-detected patients from the Finnish Randomised Study of Screening for Prostate Cancer (FinRSPC), 2400 healthy individuals have been involved." . _:36f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7553910/fullTextXML"; rdfs:comment "Of them, 2283 were clinical cases from the Pirkanmaa Hospital District, and 455 were from the Finnish Randomized Study of Screening for Prostate Cancer (FinRSPC)22, which is the largest component of the European Randomized Study of Screening for Prostate Cancer (ERSPC)23." . _:36f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000714"; "Prostate cancer risk prediction using a polygenic risk score."; "PMID:33051487" . _:36f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33051487"; "Prostate cancer risk prediction using a polygenic risk score."; "PMID:33051487", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33051487+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this Finnish population-based retrospective study 2283 clinically diagnosed and 455 screen-detected patients from the Finnish Randomised Study of Screening for Prostate Cancer (FinRSPC), 2400 healthy individuals have been involved." . _:36f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial of prostate-cancer screening in Finland, the largest component of the European Randomized Study of Screening for Prostate Cancer, enrolling men aged 55–67 during 1996–1999 and inviting those randomised to its screening arm to prostate-specific-antigen-based screening at four-year intervals."; "PMID:33051487"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:36f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 80458; "FinRSPC men enrolled during 1996-1999"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7553910/fullTextXML"; rdfs:comment "Briefly, 80,458 men aged 55–67 years were enrolled during 1996–1999, with 32,000 randomised to the screening arm and invited to PSA-based screenings at four-year intervals." . _:36f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinRSPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15483; , ; "PMID:20159113"; "A Finnish case-control sample of multiple sclerosis patients with at least one parent born in Southern Ostrobothnia, the internal isolate on the western coast of Finland with an increased prevalence of multiple sclerosis, and anonymous population controls collected at the Central Hospital of Seinäjoki in Southern Ostrobothnia, that was genotyped as the isolate replication set of a 2010 genome-wide association study of multiple sclerosis in that isolate."; 83; 365; "FinSO"; rdfs:label "Finland SO replication"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15483 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15483; "multiple sclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "The MS cases have at least one parent born within SO, and anonymous population controls were collected from the Central Hospital of Seinajoki in Southern Ostrobothnia." . _:36f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "Because of the limited power, we analyzed all 27 loci (28 of the 37 initial SNPs) showing nominal association in the GWAS analysis (p < 10−4; Table S4) in a larger independent Finnish sample set of 711 cases and 1029 controls, of which 83 MS cases and 365 controls were from the isolate (Table 1)." . _:36f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20159113"; "Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene."; "PMID:20159113", "https://europepmc.org/api/getPdf?pmcid=PMC2820168"; rdfs:comment "Finland SO replicationb 83 365 Sequenom iPlex Gold" . _:36fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish case-control sample of multiple sclerosis patients with at least one parent born in Southern Ostrobothnia, the internal isolate on the western coast of Finland with an increased prevalence of multiple sclerosis, and anonymous population controls collected at the Central Hospital of Seinäjoki in Southern Ostrobothnia, that was genotyped as the isolate replication set of a 2010 genome-wide association study of multiple sclerosis in that isolate."; "PMID:20159113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:36fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 83; "multiple sclerosis cases and population controls of the Southern Ostrobothnia replication set (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "Because of the limited power, we analyzed all 27 loci (28 of the 37 initial SNPs) showing nominal association in the GWAS analysis (p < 10−4; Table S4) in a larger independent Finnish sample set of 711 cases and 1029 controls, of which 83 MS cases and 365 controls were from the isolate (Table 1)." . _:36fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 365; "multiple sclerosis cases and population controls of the Southern Ostrobothnia replication set (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "Because of the limited power, we analyzed all 27 loci (28 of the 37 initial SNPs) showing nominal association in the GWAS analysis (p < 10−4; Table S4) in a larger independent Finnish sample set of 711 cases and 1029 controls, of which 83 MS cases and 365 controls were from the isolate (Table 1)." . _:36fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FinSO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15491; , , ; "PMID:40141198"; "An open-label, randomised phase 3 trial, led from the Ludwig-Maximilians-University of Munich, that from January 2007 to September 2012 recruited patients aged 18–75 with KRAS (exon 2) wild-type metastatic colorectal cancer at centres in Germany and Austria and assigned them to first-line FOLFIRI plus cetuximab or FOLFIRI plus bevacizumab."; 592; "FIRE-3 trial", "FIRE3", "Multicenter Randomized Trial Evaluating FOLFIRI Plus Cetuximab Versus FOLFIRI Plus Bevacizumab in First Line Treatment of Metastatic Colorectal Cancer.", "Phase 3 Randomized Clinical Trial (FOLFIRI + cetuximab, FOLFIRI + bevacizumab"; rdfs:label "FIRE-3"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15491 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:36fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15491; "metastatic colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25088940+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this open-label, randomised, phase 3 trial, we recruited patients aged 18-75 years with stage IV, histologically confirmed colorectal cancer" . _:36ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25088940+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "from centres in Germany and Austria" . _:37002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40141198"; "Genetic Polymorphisms in MHC Classes I and II Predict Outcomes in Metastatic Colorectal Cancer."; "PMID:40141198", "https://pmc.ncbi.nlm.nih.gov/articles/PMC11942614/"; rdfs:comment "Genomic DNA from the blood samples of 775 patients enrolled in three independent, randomized, first-line trials, namely TRIBE (FOLFIRI-bevacizumab, N = 215), FIRE-3 (FOLFIRI-bevacizumab, N = 107; FOLFIRI-cetuximab, N = 129), and MAVERICC (FOLFIRI-bevacizumab, N = 163; FOLFOX6-bevacizumab, N = 161), was genotyped through OncoArray, a custom array manufactured by Illumina including approximately 530K SNP markers." . _:37012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open-label, randomised phase 3 trial, led from the Ludwig-Maximilians-University of Munich, that from January 2007 to September 2012 recruited patients aged 18–75 with KRAS (exon 2) wild-type metastatic colorectal cancer at centres in Germany and Austria and assigned them to first-line FOLFIRI plus cetuximab or FOLFIRI plus bevacizumab."; "PMID:25088940", "https://clinicaltrials.gov/api/v2/studies/NCT00433927"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 592; "patients with KRAS exon 2 wild-type tumours randomised and treated (2012)"; "PMID:25088940"; rdfs:comment "Between Jan 23, 2007, and Sept 19, 2012, 592 patients with KRAS exon 2 wild-type tumours were randomly assigned and received treatment (297 in the FOLFIRI plus cetuximab group and 295 in the FOLFIRI plus bevacizumab group)." . _:37032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIRE3"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15498; , , ; ; "PMID:22367405"; "A hospital-based case-control study of lung cancer in ethnic Chinese in the Shanghai area of China, whose cases were patients presenting with primary lung cancer and whose controls were patients diagnosed with diseases unrelated to any cancer at four hospitals (Shanghai Changhai Hospital, Jiangsu Taizhou People's Hospital, Zhongshan Hospital of Fudan University and Shanghai Chest Hospital); it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; 295; 386; "FLCS"; rdfs:label "Fudan Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15498 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15498; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Cases were patients who presented to these hospitals with primary lung cancer." . _:37052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The FLCS enrolled cases and controls from four hospitals in the Shanghai area of China." . _:37062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22367405"; "Genetic variant in TP63 on locus 3q28 is associated with risk of lung adenocarcinoma among never-smoking females in Asia."; "PMID:22367405", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3875137/"; rdfs:comment "For this effort, we pooled an additional three studies from Mainland China, including the Shenyang Lung Cancer Study (SLCS) (Yin et al. 2009), the Fudan Lung Cancer Study (FLCS), and the Tianjin Lung Cancer Study (TLCS) (Qian et al. 2011)." . _:37072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of lung cancer in ethnic Chinese in the Shanghai area of China, whose cases were patients presenting with primary lung cancer and whose controls were patients diagnosed with diseases unrelated to any cancer at four hospitals (Shanghai Changhai Hospital, Jiangsu Taizhou People's Hospital, Zhongshan Hospital of Fudan University and Shanghai Chest Hospital); it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 295; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "FLCS Mainland China 295 212 49 386 59.6(11.1) 59.3(11.1) 61.3(11.7) 60.1( 8.4) NA*" . _:37092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 386; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "FLCS Mainland China 295 212 49 386 59.6(11.1) 59.3(11.1) 61.3(11.7) 60.1( 8.4) NA*" . _:370a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15506; , ; , ; "PMID:35390065"; "An observational, community-based prospective cohort study of cardiovascular risk factors and outcomes in adults, whose family-based population sample was randomly recruited between 1985 and 2010, stratified by age and sex, from a geographically defined area in northeastern Belgium, and followed up with in-person examinations and records of health outcomes."; 3343; "FLEMENGHO", "FLEMENGHO study", "FLEmish study on Environment, Genes and Health Outcome", "Flemish Study on Environment, Genes, and Health Outcomes"; rdfs:label "Flemish Study on Environment, Genes and Health Outcomes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15506 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:370b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15506; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12445332/fullTextXML"; rdfs:comment "The Flemish Study on Environment, Genes, and Health Outcomes (FLEMENGHO) is an observational, community-based cohort study on cardiovascular risk factors and outcomes in the adult Belgian population." . _:370c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12445332/fullTextXML"; rdfs:comment "Between 1985 and 2010, we randomly recruited a family-based population sample, stratified by age and sex, from a geographically defined area in northeastern Belgium, as described previously." . _:370d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35390065"; "Association of colorectal cancer with genetic and epigenetic variation in PEAR1-A population-based cohort study."; "PMID:35390065", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35390065+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We therefore tested the association of incident colorectal cancer and genetic and epigenetic variability in PEAR1 among 2532 randomly recruited participants enrolled in the family-based Flemish Study on Environment, Genes and Health Outcomes (51.2% women; mean age 44.8 years)." . _:370e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational, community-based prospective cohort study of cardiovascular risk factors and outcomes in adults, whose family-based population sample was randomly recruited between 1985 and 2010, stratified by age and sex, from a geographically defined area in northeastern Belgium, and followed up with in-person examinations and records of health outcomes."; "PMID:35390065", "PMID:40979826"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:370f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3343; "participants enrolled from 1985 to 2007 (1985-2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8989234/fullTextXML"; rdfs:comment "Of 3343 participants, we excluded 811 from analysis, because blood stored in the biobank had been depleted or the DNA was degraded (n = 453), because participants were younger than 20 years old at enrolment and therefore not at risk (n = 393), because they had a history of colorectal cancer prior to enrolment (n = 4), because they had been lost to follow-up (n = 37), or because their rs12566888 genotype was missing (n = 4)." . _:37102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLEMENGHO"; . a owl:NamedIndividual, ; , ; "PMID:22216207"; "The second phase of the Fleurbaix Laventie Ville Santé study: a prospective, community-based study of nuclear families (parents and their children) living in the two small towns of Fleurbaix and Laventie in northern France, recruited in 1999 among the families of the first phase (FLVS I, families with a child in primary school in 1992) and examined again in 2001, to identify determinants of adiposity and of weight and adiposity changes in the general population."; 1175; "FLVS II", "FLVS II Study", "FLVS-II", "Fleurbaix Laventie Ville Santé II Study", "Fleurbaix Laventie Ville Santé II study", "Fleurbaix Laventie Ville Santé Study II", "Fleurbaix-Laventie Ville Sant_ II study", "Fleurbaix-Laventie Ville-Santé II study"; rdfs:label "Fleurbaix-Laventie Ville Santé II study"@en . _:37112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3247254/fullTextXML"; rdfs:comment "Nuclear families, defined as family groups consisting of a father and/or mother and their children who share living quarters, were drawn from the Fleurbaix-Laventie Ville-Santé II (FLVS II) study, a prospective study (1999–2001) aimed at identifying determinants of adiposity and its changes over time in families living in two small towns in Northern France, Fleurbaix and Laventie [16], [17]." . _:37122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22216207"; "Parent-offspring correlations in pedometer-assessed physical activity."; "PMID:22216207", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3247254/fullTextXML"; rdfs:comment "Nuclear families, defined as family groups consisting of a father and/or mother and their children who share living quarters, were drawn from the Fleurbaix-Laventie Ville-Santé II (FLVS II) study, a prospective study (1999–2001) aimed at identifying determinants of adiposity and its changes over time in families living in two small towns in Northern France, Fleurbaix and Laventie [16], [17]." . _:37132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The second phase of the Fleurbaix Laventie Ville Santé study: a prospective, community-based study of nuclear families (parents and their children) living in the two small towns of Fleurbaix and Laventie in northern France, recruited in 1999 among the families of the first phase (FLVS I, families with a child in primary school in 1992) and examined again in 2001, to identify determinants of adiposity and of weight and adiposity changes in the general population."; "PMID:20433707", "PMID:22216207", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2247/MediaObjects/41588_2012_BFng2247_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1175; "parents and children aged 8 or more in the 294 families that joined the 1999 baseline examination"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2043091/"; rdfs:comment "In 1999, 393 families were still residing in the area, and 294 (1175 parents and children ≥ 8 y) of them accepted to participate in the baseline examination of Phase II." . _:37152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLVS II"; . _:37162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLVS-II"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. FondaMental Bipolar joins the name of a French foundation to the disease: the Fondation FondaMental collected the French bipolar disorder case-control sample of the European bipolar GWAS, which has no name of its own (PMID:25111785). Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete FondaMental Bipolar"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15519; , ; ; "PGS000013", "PMID:474565"; "A community-based cohort of offspring and spouses of the original Framingham Heart Study participants, recruited from 1971 to study cardiovascular disease and the familial clustering of its risk factors, followed with repeated in-person examinations and telephone contacts."; 5124; "FOS", "Framingham Heart Study Offspring Cohort", "Framingham Offspring", "Framingham offspring study", "offspring FHS cohort"; ; rdfs:label "Framingham Offspring Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15519 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15519; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A474565+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study, called the Framingham Offspring Study (FOS), was undertaken to expand upon knowledge of cardiovascular disease, particularly in the area of familial clustering of the disease and its risk factors." . _:37182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12452345/fullTextXML"; rdfs:comment "In the Framingham Offspring Study in the United States, a one-unit higher Mediterranean-Style Dietary Pattern Score was associated with a reduction in the odds of frailty by 3% in adults older than 60 years [11]." . _:37192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9398962/unicode"; rdfs:comment "FOS includes offspring and spouses of the Framingham Heart Study original cohort participants that were recruited in 1971." . _:371a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000013"; "Polygenic Risk Score to Identify Subclinical Coronary Heart Disease Risk in Young Adults."; "PMID:34463132" . _:371b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:474565"; "An investigation of coronary heart disease in families. The Framingham offspring study."; "PMID:474565", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A474565+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study, called the Framingham Offspring Study (FOS), was undertaken to expand upon knowledge of cardiovascular disease, particularly in the area of familial clustering of the disease and its risk factors." . _:371c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of offspring and spouses of the original Framingham Heart Study participants, recruited from 1971 to study cardiovascular disease and the familial clustering of its risk factors, followed with repeated in-person examinations and telephone contacts."; "PMID:35880530", "PMID:37536150", "PMID:474565"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:371d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5124; "offspring of the Original Cohort and their spouses enrolled in 1971"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10529589/unicode"; rdfs:comment "In 1971, 5,124 men and women that were either offspring of the Original Cohort or spouses of those offspring were enrolled in the Offspring Cohort." . _:371e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15528; , ; ; "PGS000793", "PMID:20852632"; "A population-based case-control study of epithelial ovarian cancer in Ontario, Canada, whose cases, aged 20–79 and diagnosed from 1995 to 1999, were identified through the Ontario Cancer Registry, with family-based controls and population-based controls drawn from women attending a screening clinic at Women's College Hospital, Toronto; it is the Toronto site of the Ovarian Cancer Association Consortium."; 724; 556; "FOTS", "Familial Ovarian Tumour Study", "TOCS", "TOR", "Toronto Ovarian Cancer Study"; ; rdfs:label "Familial Ovarian Tumor Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15528 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:371f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15528; "epithelial ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "Enrollment of patients aged 20-79 years of age and diagnosed between January 1, 1995 and December 31, 1999 with epithelial ovarian cancer identified by the Ontario Cancer Registry." . _:37202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "TOR Familial Ovarian Tumor Study (FOTS) Canada Enrollment of patients aged 20-79 years of age and diagnosed between January 1, 1995 and December 31, 1999 with epithelial ovarian cancer identified by the Ontario Cancer Registry." . _:37212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000793"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:37222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20852632"; "A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24."; "PMID:20852632", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "TOR Familial Ovarian Tumor Study (FOTS) Canada Enrollment of patients aged 20-79 years of age and diagnosed between January 1, 1995 and December 31, 1999 with epithelial ovarian cancer identified by the Ontario Cancer Registry." . _:37232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer in Ontario, Canada, whose cases, aged 20–79 and diagnosed from 1995 to 1999, were identified through the Ontario Cancer Registry, with family-based controls and population-based controls drawn from women attending a screening clinic at Women's College Hospital, Toronto; it is the Toronto site of the Ovarian Cancer Association Consortium."; "PMID:20852632", "PMID:36688720"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 724; "FOTS cases and controls genotyped for the 2010 OCAC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "TOR Familial Ovarian Tumor Study (FOTS) Canada Enrollment of patients aged 20-79 years of age and diagnosed between January 1, 1995 and December 31, 1999 with epithelial ovarian cancer identified by the Ontario Cancer Registry. Two control series are included: family-based controls and population-based controls drawn from women attending a screening clinic at Women’s College Hospital for blood Illumina 610K 724 556" . _:37252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 556; "FOTS cases and controls genotyped for the 2010 OCAC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "TOR Familial Ovarian Tumor Study (FOTS) Canada Enrollment of patients aged 20-79 years of age and diagnosed between January 1, 1995 and December 31, 1999 with epithelial ovarian cancer identified by the Ontario Cancer Registry. Two control series are included: family-based controls and population-based controls drawn from women attending a screening clinic at Women’s College Hospital for blood Illumina 610K 724 556" . _:37262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOTS"; . _:37272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOCS"; . _:37282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15539; "PGS003355", "PMID:31707849"; "A multinational, randomised, double-blind, placebo-controlled trial (TIMI 59) of whether adding the PCSK9 inhibitor evolocumab to statin therapy reduces major cardiovascular events in patients aged 40 to 85 with clinically evident atherosclerotic cardiovascular disease (a history of myocardial infarction, non-haemorrhagic stroke or symptomatic peripheral artery disease) and raised LDL or non-HDL cholesterol."; 27564; "FOURIER", "FOURIER trial", "Further Cardiovascular Outcomes Research With PCSK9 Inhibition in Subjects With Elevated Risk", "TIMI 59"; ; rdfs:label "Further Cardiovascular Outcomes Research with PCSK9 Inhibition in Subjects with Elevated Risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15539 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15539; "atherosclerotic cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28304224+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a randomized, double-blind, placebo-controlled trial involving 27,564 patients with atherosclerotic cardiovascular disease and LDL cholesterol levels of 70 mg per deciliter (1.8 mmol per liter) or higher who were receiving statin therapy." . _:372a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003355"; "Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants."; "PMID:36474045" . _:372b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31707849"; "Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial."; "PMID:31707849", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8058781/unicode"; rdfs:comment "The FOURIER trial was a multinational, randomized, double-blind, placebo-controlled trial of the efficacy of evolocumab in patients with clinically evident atherosclerotic cardiovascular disease." . _:372c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational, randomised, double-blind, placebo-controlled trial (TIMI 59) of whether adding the PCSK9 inhibitor evolocumab to statin therapy reduces major cardiovascular events in patients aged 40 to 85 with clinically evident atherosclerotic cardiovascular disease (a history of myocardial infarction, non-haemorrhagic stroke or symptomatic peripheral artery disease) and raised LDL or non-HDL cholesterol."; "PMID:31707849", "PMID:40011692"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:372d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27564; "FOURIER patients randomized in the main trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28304224+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a randomized, double-blind, placebo-controlled trial involving 27,564 patients with atherosclerotic cardiovascular disease and LDL cholesterol levels of 70 mg per deciliter (1.8 mmol per liter) or higher who were receiving statin therapy." . _:372e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOURIER"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. FPCC is the French Prostate Case-Control Study, CeRePP (PMID:22271044), whose collection also supplied the bladder cancer cases of the GWAS the PGS Catalog records the id in (PMID:24163127). Replaced by COHO:0000818 (French Prostate Cancer Case-Control Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete CeRePP French Prostate Case-Control Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15546, _:genid-371333f489424440b12a13b9d98ced822608-genid15548; , ; ; "PGS000773", "PMID:29058716"; "A study of carriers of pathogenic BRCA1 or BRCA2 variants, with and without breast cancer, at the Fundación Pública Galega de Medicina Xenómica, the genomic medicine foundation of the Galician Health Service (SERGAS) in Santiago de Compostela, Spain, which contributes its carriers to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2."; 61; 40; "FPGMX", "Galician Public Foundation of Genomic Medicine"; ; rdfs:label "Fundación Pública Galega de Medicina Xenómica"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15546 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15548 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:372f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15546; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:37302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15548; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:37312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "FPGMX | Fundación Pública Galega de Medicina Xenómica | SPAIN | 40 | 61 | | |" . _:37322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000773"; "Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry."; "PMID:33769540" . _:37332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "FPGMX | Fundación Pública Galega de Medicina Xenómica | SPAIN | 40 | 61 | | |" . _:37342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of carriers of pathogenic BRCA1 or BRCA2 variants, with and without breast cancer, at the Fundación Pública Galega de Medicina Xenómica, the genomic medicine foundation of the Galician Health Service (SERGAS) in Santiago de Compostela, Spain, which contributes its carriers to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2."; "PMID:28346442", "PMID:29058716"; "GPT-6 (OpenAI), 2026-09" . _:37352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 61; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "FPGMX | Fundación Pública Galega de Medicina Xenómica | SPAIN | 40 | 61 | | |" . _:37362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 40; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "FPGMX | Fundación Pública Galega de Medicina Xenómica | SPAIN | 40 | 61 | | |" . _:37372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FPGMX"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. FRENCH is the PGS Catalog id, from the GECCO meta-analysis of PMID:21761138, for the French colorectal cancer case-control study that GECCO's later papers call ASTERISK. Replaced by COHO:0000813 (Association STudy Evaluating RISK for sporadic colorectal cancer), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete French Case-Control Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15557; , , , ; ; "PGS000012", "PMID:23202125"; "A prospective randomised multicentre trial at 58 hospitals in Sweden, Norway and Denmark in which patients with unstable coronary-artery disease were assigned to an early invasive or a non-invasive treatment strategy, together with placebo-controlled long-term treatment with the low-molecular-mass heparin dalteparin (Fragmin), to compare the two strategies."; 2457; "FRISC II", "FRISC-II", "FRISCII", "Fragmin and Fast Revascularization during Instability in Coronary Artery Disease"; ; rdfs:label "FRagmin and Fast Revascularisation during InStability in Coronary artery disease II"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15557 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15557; "unstable coronary-artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10475181+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared an early invasive with a non-invasive treatment strategy in unstable coronary-artery disease." . _:37392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "The FRISC II, (Fragmin and Fast Revascularization during Instability in Coronary Artery Disease) study was a prospective, randomised, multicentre trial (58 hospitals in Sweden, Norway and Denmark) with parallel groups to compare invasive and non‐invasive treatments." . _:373a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000012"; "Genomic prediction of coronary heart disease."; "PMID:27655226" . _:373b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23202125"; "Large-scale association analysis identifies new risk loci for coronary artery disease."; "PMID:23202125", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "FRISCII patients were eligible for inclusion if they had symptoms of ischaemia that were increasing or occurring at rest, or that warranted the suspicion of acute myocardial infarction, with the last episode within 48 h before the start of dalteparin or standard heparin treatment." . _:373c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective randomised multicentre trial at 58 hospitals in Sweden, Norway and Denmark in which patients with unstable coronary-artery disease were assigned to an early invasive or a non-invasive treatment strategy, together with placebo-controlled long-term treatment with the low-molecular-mass heparin dalteparin (Fragmin), to compare the two strategies."; "PMID:10475181", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:373d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2457; "FRISC II patients randomized in the invasive versus non-invasive comparison"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10475181+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a prospective randomised multicentre study, we randomly assigned 2457 patients in 58 Scandinavian hospitals (median age 66 years, 70% men) an early invasive or non-invasive treatment strategy with placebo-controlled long-term low-molecular-mass heparin (dalteparin) for 3 months." . _:373e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRISC II"; . _:373f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRISC-II"; . _:37402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FRISCII"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15567; , ; ; "PGS000082", "PMID:19127255"; "A population-based case-control study of ovarian cancer run from Stanford, California, and formerly called the Family Registry for Ovarian Cancer, whose cases were women diagnosed from 1997 into the early 2000s identified through the Greater Bay Area Cancer Registry in Northern California and whose controls were identified by random-digit dialling in the same area, frequency matched on age and race/ethnicity; one of the studies of the Ovarian Cancer Association Consortium."; 665; 567; "FROC", "FROC&GEOCS", "FROCS", "Family Registry for Ovarian Cancer", "Family Registry for Ovarian Cancer Study", "GEOCS", "Genetic Epidemiology of Ovarian Cancer", "STA"; ; rdfs:label "Genetic Epidemiology of Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15567 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15567; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "STA Genetic Epidemiology of Ovarian Cancer (GEOCS) United States Consecutive cases diagnosed from 1997- 2002 in Greater Bay Area Cancer Registry San Francisco." . _:37422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2634713/"; rdfs:comment "GEOCS (Auranen et al, 2005) Northern California, USA 1997–2002 Random-digit dial identification from study area." . _:37432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:37442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19127255"; "Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium."; "PMID:19127255", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2634713/"; rdfs:comment "GEOCS (Auranen et al, 2005) Northern California, USA 1997–2002 Random-digit dial identification from study area." . _:37452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of ovarian cancer run from Stanford, California, and formerly called the Family Registry for Ovarian Cancer, whose cases were women diagnosed from 1997 into the early 2000s identified through the Greater Bay Area Cancer Registry in Northern California and whose controls were identified by random-digit dialling in the same area, frequency matched on age and race/ethnicity; one of the studies of the Ovarian Cancer Association Consortium."; "PMID:19127255", "PMID:20570913", "PMID:36688720", "https://www.nature.com/articles/6604947"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 665; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "STA (33) USA Family Registry for Ovarian Cancer AND Genetic Epidemiology of Ovarian Cancer 1997-2001 Population-based Interview 47.77 (10.07) 567 (46.0) 665 (54.0)" . _:37472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 567; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "STA (33) USA Family Registry for Ovarian Cancer AND Genetic Epidemiology of Ovarian Cancer 1997-2001 Population-based Interview 47.77 (10.07) 567 (46.0) 665 (54.0)" . _:37482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FROC"; . _:37492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FROC&GEOCS"; . _:374a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FROCS"; . _:374b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEOCS"; . _:374c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15580; , ; ; "PGS019953", "PMID:30482948"; "A family study of cocaine dependence at Washington University School of Medicine in St. Louis, Missouri, in which adults with cocaine dependence recruited from chemical dependency treatment centres in the St. Louis area, and community controls matched to them on age, ethnicity, gender and zip code and recruited through driver's licence records, each took part with a full sibling, to study family, neighbourhood and genetic contributions to substance dependence; recruitment targeted equal numbers of men and women and of European-Americans and African-Americans."; 504; 493; "FSCD", "Family Study on Cocaine Dependence", "FinnTwin, Family Study of Cocaine Dependence"; ; rdfs:label "Family Study of Cocaine Dependence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15580 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:374d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15580; "cocaine dependence"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2384165/"; rdfs:comment "Cocaine dependent subjects were recruited from publicly and privately funded inpatient and outpatient chemical dependency treatment centers in the St. Louis region." . _:374e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2582594/"; rdfs:comment "Control subjects were recruited through driver’s license records maintained by the Missouri Family Registry, housed at Washington University School of Medicine for research purposes." . _:374f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS019953"; "Alcohol is neither a risk factor nor a protective factor for sudden cardiac death and/or fatal ventricular arrhythmia: A population-based study with genetic traits and alcohol consumption in the UK Biobank."; "PMID:38697272" . _:37502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30482948"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6430207/fullTextXML"; rdfs:comment "Support for collection of datasets and samples was provided by the Collaborative Study on the Genetics of Alcoholism [COGA; U10 AA008401], the Collaborative Genetic Study of Nicotine Dependence [COGEND; P01 CA089392; see also phs000404.v1.p1], and the Family Study of Cocaine Dependence [FSCD; R01 DA013423, R01 DA019963]." . _:37512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of cocaine dependence at Washington University School of Medicine in St. Louis, Missouri, in which adults with cocaine dependence recruited from chemical dependency treatment centres in the St. Louis area, and community controls matched to them on age, ethnicity, gender and zip code and recruited through driver's licence records, each took part with a full sibling, to study family, neighbourhood and genetic contributions to substance dependence; recruitment targeted equal numbers of men and women and of European-Americans and African-Americans."; "PMID:18243582", "PMID:18519132"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 504; "genetic arm: cocaine-dependent cases and unrelated controls"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2582594/"; rdfs:comment "The genetic arm of the Family Study of Cocaine Dependence (FSCD) included 504 cocaine-dependent individuals and 493 unrelated control subjects." . _:37532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 493; "genetic arm: cocaine-dependent cases and unrelated controls"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2582594/"; rdfs:comment "The genetic arm of the Family Study of Cocaine Dependence (FSCD) included 504 cocaine-dependent individuals and 493 unrelated control subjects." . _:37542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FSCD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15589; , , ; "PMID:22961080"; "A type 2 diabetes case-control sample of Han Chinese from Beijing or Shanghai, China, made up of people with type 2 diabetes and nondiabetic controls, that was one of the four sample sets of the stage 1 genome-wide scan of a 2013 genome-wide association study of type 2 diabetes in Chinese Hans."; 807; 339; "Fudan-Huashan"; rdfs:label "Fudan-Huashan Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15589; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 1 samples for the GWA scan included 1,999 T2D case subjects and 1,976 nondiabetic control subjects drawn from the Nutrition and Health of Aging Population in China (NHAPC) study (312 case and 815 control subjects), the Gut Microbiota and Obesity Study (GMOS) (82 case and 163 control subjects), the Fudan-Huashan Study (807 case and 339 control subjects), and the Beijing Diabetes Survey (798 case and 659 control subjects)." . _:37562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "In stage 1, we tested the association with T2D of 2,234,194 genotyped and imputed SNPs that passed all QC criteria in 3,712 Chinese Hans from Beijing and Shanghai, of which 1,839 were case subjects, and 1,873 were control subjects." . _:37572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22961080"; "A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans."; "PMID:22961080", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 1 samples for the GWA scan included 1,999 T2D case subjects and 1,976 nondiabetic control subjects drawn from the Nutrition and Health of Aging Population in China (NHAPC) study (312 case and 815 control subjects), the Gut Microbiota and Obesity Study (GMOS) (82 case and 163 control subjects), the Fudan-Huashan Study (807 case and 339 control subjects), and the Beijing Diabetes Survey (798 case and 659 control subjects)." . _:37582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control sample of Han Chinese from Beijing or Shanghai, China, made up of people with type 2 diabetes and nondiabetic controls, that was one of the four sample sets of the stage 1 genome-wide scan of a 2013 genome-wide association study of type 2 diabetes in Chinese Hans."; "PMID:22961080"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 807; "type 2 diabetes cases and nondiabetic controls in stage 1 of the 2013 GWAS (analysed subset; the only count stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 1 samples for the GWA scan included 1,999 T2D case subjects and 1,976 nondiabetic control subjects drawn from the Nutrition and Health of Aging Population in China (NHAPC) study (312 case and 815 control subjects), the Gut Microbiota and Obesity Study (GMOS) (82 case and 163 control subjects), the Fudan-Huashan Study (807 case and 339 control subjects), and the Beijing Diabetes Survey (798 case and 659 control subjects)." . _:375a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 339; "type 2 diabetes cases and nondiabetic controls in stage 1 of the 2013 GWAS (analysed subset; the only count stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 1 samples for the GWA scan included 1,999 T2D case subjects and 1,976 nondiabetic control subjects drawn from the Nutrition and Health of Aging Population in China (NHAPC) study (312 case and 815 control subjects), the Gut Microbiota and Obesity Study (GMOS) (82 case and 163 control subjects), the Fudan-Huashan Study (807 case and 339 control subjects), and the Beijing Diabetes Survey (798 case and 659 control subjects)." . _:375b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fudan-Huashan"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15597; , ; "PGS005203", "PMID:29892015"; "A Norwegian study of early-onset lone atrial fibrillation that enrolled, between 2009 and 2016, people diagnosed with atrial fibrillation before age 50 in the absence of clinical or echocardiographic signs of cardiovascular disease, hypertension, or metabolic or pulmonary disease; all participants had a clinical examination with ECG and echocardiography and gave blood for DNA."; "GAF", "GENAF", "Genetics in AF"; ; rdfs:label "Genetics in Atrial Fibrillation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15597 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:375c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15597; "early-onset lone atrial fibrillation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Genetics in AF (GENAF) study enrolled individuals with early-onset lone AF before age 50 in Norway between 2009 and 20168 ." . _:375d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Genetics in AF (GENAF) study enrolled individuals with early-onset lone AF before age 50 in Norway" . _:375e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:375f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Genetics in AF (GENAF) study enrolled individuals with early-onset lone AF before age 50 in Norway between 2009 and 20168 ." . _:37602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Norwegian study of early-onset lone atrial fibrillation that enrolled, between 2009 and 2016, people diagnosed with atrial fibrillation before age 50 in the absence of clinical or echocardiographic signs of cardiovascular disease, hypertension, or metabolic or pulmonary disease; all participants had a clinical examination with ECG and echocardiography and gave blood for DNA."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAF"; . _:37622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENAF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15605; , ; "PMID:21460840"; "A German genome-wide association dataset of Alzheimer's disease cases and controls from the Alzheimer's disease Integrated Genome Research Network (AD-IG) of the German National Genome Research Network (NGFN), a Federal Ministry of Education and Research-funded project of the Homburg group, used for in silico replication in the 2011 GERAD+ genome-wide association study of Alzheimer's disease."; "AD-IG", "Alzheimer's disease Integrated Genome Research Network", "GAGRN", "German Alzheimer disease Integrates Genome Research Network"; rdfs:label "German Alzheimer's disease Integrated Genome Research Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15605 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15605; "Alzheimer's disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3084173/"; rdfs:comment "Single nucleotide polymorphisms (SNPs) which remained significant at P≤1×10−5 were then tested for replication in the second stage of this study, comprising 4896 cases and 4903 controls including genotyping of the GERAD2 sample and in silico replication in the deCODE and German Alzheimer’s disease Integrated Genome Research Network (AD-IG) GWAS datasets." . _:37642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3084173/"; rdfs:comment "Single nucleotide polymorphisms (SNPs) which remained significant at P≤1×10−5 were then tested for replication in the second stage of this study, comprising 4896 cases and 4903 controls including genotyping of the GERAD2 sample and in silico replication in the deCODE and German Alzheimer’s disease Integrated Genome Research Network (AD-IG) GWAS datasets." . _:37652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21460840"; "Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease."; "PMID:21460840", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3084173/"; rdfs:comment "Single nucleotide polymorphisms (SNPs) which remained significant at P≤1×10−5 were then tested for replication in the second stage of this study, comprising 4896 cases and 4903 controls including genotyping of the GERAD2 sample and in silico replication in the deCODE and German Alzheimer’s disease Integrated Genome Research Network (AD-IG) GWAS datasets." . _:37662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German genome-wide association dataset of Alzheimer's disease cases and controls from the Alzheimer's disease Integrated Genome Research Network (AD-IG) of the German National Genome Research Network (NGFN), a Federal Ministry of Education and Research-funded project of the Homburg group, used for in silico replication in the 2011 GERAD+ genome-wide association study of Alzheimer's disease."; "PMID:21460840", "PMID:24922517"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AD-IG"; . _:37682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAGRN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15612, _:genid-371333f489424440b12a13b9d98ced822608-genid15614, _:genid-371333f489424440b12a13b9d98ced822608-genid15616, _:genid-371333f489424440b12a13b9d98ced822608-genid15618, _:genid-371333f489424440b12a13b9d98ced822608-genid15620, _:genid-371333f489424440b12a13b9d98ced822608-genid15622; , , , , , ; "PGS000788", "PMID:26868379"; "A public-private partnership of the Foundation for the US National Institutes of Health that, through a series of collaborative genome-wide association studies, genotyped samples from case-control studies of bipolar disorder, diabetic nephropathy, major depressive disorder, psoriasis and schizophrenia and a trio study of attention deficit hyperactivity disorder, and made the resulting individual genotype and phenotype data available to researchers through dbGaP."; "The acronym GAIN also denotes Genetics of Asthma International Network (COHO:0001750); this term is Genetic Association Information Network."@en; "GAIN"; ; rdfs:label "Genetic Association Information Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15612 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15614 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15616 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15618 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15620 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15622 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15612; "major depression"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2031016/"; rdfs:comment "Jun-07 1 ADHD GAIN Trio GWAS 2,874 Aug-07 2 Diabetic Nephropathy GAIN Case-Control GWAS 1,835 Sep-07 0 GeneLink NHLBI Multipoint linkage analyses n.d. Sep-07 1 Stroke NINDS Case-Control GWAS 1,555 Sep-07 1 Motor Neuron Disease/ALS NINDS Case-Control GWAS 1,876 Sep-07 1 LEAPS MJFF Tiered case-control GWAS 886 Sep-07 1 Major Depression GAIN Case-Control GWAS 3,720 Oct-07 1 Framingham SHARe NHLBI Family-Based Longitudinal GWAS ∼9,500 Oct-07 1 Psoriasis GAIN Case-Control GWAS 2,898 Nov-07 2 DCCT/ EDIC NIDDK Longitudinal GWAS Dec-07 1 Schizophrenia GAIN Case-Control GWAS 2,909 Dec-07 1 Bipolar Disorder GAIN Case-Control GWAS 2,400" . _:376a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15614; "bipolar disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2031016/"; rdfs:comment "Jun-07 1 ADHD GAIN Trio GWAS 2,874 Aug-07 2 Diabetic Nephropathy GAIN Case-Control GWAS 1,835 Sep-07 0 GeneLink NHLBI Multipoint linkage analyses n.d. Sep-07 1 Stroke NINDS Case-Control GWAS 1,555 Sep-07 1 Motor Neuron Disease/ALS NINDS Case-Control GWAS 1,876 Sep-07 1 LEAPS MJFF Tiered case-control GWAS 886 Sep-07 1 Major Depression GAIN Case-Control GWAS 3,720 Oct-07 1 Framingham SHARe NHLBI Family-Based Longitudinal GWAS ∼9,500 Oct-07 1 Psoriasis GAIN Case-Control GWAS 2,898 Nov-07 2 DCCT/ EDIC NIDDK Longitudinal GWAS Dec-07 1 Schizophrenia GAIN Case-Control GWAS 2,909 Dec-07 1 Bipolar Disorder GAIN Case-Control GWAS 2,400" . _:376b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15616; "diabetic nephropathy"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2031016/"; rdfs:comment "Jun-07 1 ADHD GAIN Trio GWAS 2,874 Aug-07 2 Diabetic Nephropathy GAIN Case-Control GWAS 1,835 Sep-07 0 GeneLink NHLBI Multipoint linkage analyses n.d. Sep-07 1 Stroke NINDS Case-Control GWAS 1,555 Sep-07 1 Motor Neuron Disease/ALS NINDS Case-Control GWAS 1,876 Sep-07 1 LEAPS MJFF Tiered case-control GWAS 886 Sep-07 1 Major Depression GAIN Case-Control GWAS 3,720 Oct-07 1 Framingham SHARe NHLBI Family-Based Longitudinal GWAS ∼9,500 Oct-07 1 Psoriasis GAIN Case-Control GWAS 2,898 Nov-07 2 DCCT/ EDIC NIDDK Longitudinal GWAS Dec-07 1 Schizophrenia GAIN Case-Control GWAS 2,909 Dec-07 1 Bipolar Disorder GAIN Case-Control GWAS 2,400" . _:376c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15618; "psoriasis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2031016/"; rdfs:comment "Jun-07 1 ADHD GAIN Trio GWAS 2,874 Aug-07 2 Diabetic Nephropathy GAIN Case-Control GWAS 1,835 Sep-07 0 GeneLink NHLBI Multipoint linkage analyses n.d. Sep-07 1 Stroke NINDS Case-Control GWAS 1,555 Sep-07 1 Motor Neuron Disease/ALS NINDS Case-Control GWAS 1,876 Sep-07 1 LEAPS MJFF Tiered case-control GWAS 886 Sep-07 1 Major Depression GAIN Case-Control GWAS 3,720 Oct-07 1 Framingham SHARe NHLBI Family-Based Longitudinal GWAS ∼9,500 Oct-07 1 Psoriasis GAIN Case-Control GWAS 2,898 Nov-07 2 DCCT/ EDIC NIDDK Longitudinal GWAS Dec-07 1 Schizophrenia GAIN Case-Control GWAS 2,909 Dec-07 1 Bipolar Disorder GAIN Case-Control GWAS 2,400" . _:376d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15620; "schizophrenia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2031016/"; rdfs:comment "Jun-07 1 ADHD GAIN Trio GWAS 2,874 Aug-07 2 Diabetic Nephropathy GAIN Case-Control GWAS 1,835 Sep-07 0 GeneLink NHLBI Multipoint linkage analyses n.d. Sep-07 1 Stroke NINDS Case-Control GWAS 1,555 Sep-07 1 Motor Neuron Disease/ALS NINDS Case-Control GWAS 1,876 Sep-07 1 LEAPS MJFF Tiered case-control GWAS 886 Sep-07 1 Major Depression GAIN Case-Control GWAS 3,720 Oct-07 1 Framingham SHARe NHLBI Family-Based Longitudinal GWAS ∼9,500 Oct-07 1 Psoriasis GAIN Case-Control GWAS 2,898 Nov-07 2 DCCT/ EDIC NIDDK Longitudinal GWAS Dec-07 1 Schizophrenia GAIN Case-Control GWAS 2,909 Dec-07 1 Bipolar Disorder GAIN Case-Control GWAS 2,400" . _:376e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15622; "ADHD"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2031016/"; rdfs:comment "Jun-07 1 ADHD GAIN Trio GWAS 2,874 Aug-07 2 Diabetic Nephropathy GAIN Case-Control GWAS 1,835 Sep-07 0 GeneLink NHLBI Multipoint linkage analyses n.d. Sep-07 1 Stroke NINDS Case-Control GWAS 1,555 Sep-07 1 Motor Neuron Disease/ALS NINDS Case-Control GWAS 1,876 Sep-07 1 LEAPS MJFF Tiered case-control GWAS 886 Sep-07 1 Major Depression GAIN Case-Control GWAS 3,720 Oct-07 1 Framingham SHARe NHLBI Family-Based Longitudinal GWAS ∼9,500 Oct-07 1 Psoriasis GAIN Case-Control GWAS 2,898 Nov-07 2 DCCT/ EDIC NIDDK Longitudinal GWAS Dec-07 1 Schizophrenia GAIN Case-Control GWAS 2,909 Dec-07 1 Bipolar Disorder GAIN Case-Control GWAS 2,400" . _:376f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4930126/fullTextXML"; rdfs:comment "Data from half of the Molecular Genetics of Schizophrenia study participants genotyped under the auspices of GAIN were obtained via dbGaP accession number phs000021.v3.p2, and data from the other half of the Molecular Genetics of Schizophrenia study participants (nonGAIN) were obtained via dbGaP accession number phs000167.v1.p1." . _:37702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://link.springer.com/article/10.1007/s00787-014-0573-4"; rdfs:comment "Genome-wide genotyping of the IMAGE probands (N = 231) and their parents (N = 445) was performed as part of the GAIN study using the Perlegen genotyping platform of 600,000 tagging single-nucleotide polymorphisms (SNPs) (for details on genotyping, data cleaning, and quality control procedures see [31])." . _:37712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2682673/"; rdfs:comment "The GoKinD collection of DNA was genotyped through the GAIN program, with the support of the FNIH and NIDDK." . _:37722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3136364/"; rdfs:comment "Funding support for CASP was provided by the National Institutes of Health, the Foundation for NIH’s Genetic Association Information Network and the National Psoriasis Foundation." . _:37732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3035981/"; rdfs:comment "The initial BiGS GWA study was funded through the Foundation for the National Institutes of Health Genetic Information Association Network (GAIN) initiative (http://www.genome.gov/19518664) and we report the results of this GWA study here." . _:37742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2717726/"; rdfs:comment "This GWAS was one of the six initial Genetic Association Information Network (GAIN) studies sponsored by the Foundation for the NIH (19)." . _:37752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000788"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:37762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26868379"; "A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology."; "PMID:26868379", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754340/fullTextXML"; rdfs:comment "Controls were obtained separately and included 1,014 healthy individuals (464 males and 550 females) from the Genetic Association Information Network (GAIN) Consortium schizophrenia study cohort44." . _:37772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A public-private partnership of the Foundation for the US National Institutes of Health that, through a series of collaborative genome-wide association studies, genotyped samples from case-control studies of bipolar disorder, diabetic nephropathy, major depressive disorder, psoriasis and schizophrenia and a trio study of attention deficit hyperactivity disorder, and made the resulting individual genotype and phenotype data available to researchers through dbGaP."; "PMID:17728769", "PMID:17898773", "PMID:19065144"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15634; , , , , , , , ; "PGS000037", "PMID:12028118"; "A multinational family study of asthma that in 1999-2001 recruited, at centres in Europe (among them the United Kingdom, Greece and Norway), Australia and the United States, nuclear families of probands aged 7-35 years with physician-diagnosed asthma and their symptomatic siblings, together with their parents, who were assessed by questionnaire, lung function and allergen skin prick testing, to search for asthma susceptibility loci and quantitative asthma phenotypes."; "The acronym GAIN also denotes Genetic Association Information Network (COHO:0001749); this term is Genetics of Asthma International Network."@en; 1475; 1668; "GAIN", "GAIN.AST"; ; rdfs:label "Genetics of Asthma International Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15634 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15634; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18177490+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Probands aged 7-35 years with physician diagnosed asthma and symptomatic siblings were identified in 1022 nuclear families from 11 centres in six countries forming the Genetics of Asthma International Network." . _:377a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2227930/"; rdfs:comment "Nuclear families from two European populations, representing a subset of a larger multicenter study,10 were collected from centers in Sheffield, United Kingdom, and in Thessaloniki, Greece." . _:377b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12028118+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "100 Norwegian families (426 subjects) of 7-35-year-old sibling-pairs with asthma and their parents underwent questionnaire/interview (medical and exposure history), skin prick test (SPT) to common local inhalant allergens and German cockroach, and IgE specific to mites, mosquito, shrimp and cockroach." . _:377c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16391567+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Families with at least two siblings with asthma were collected from Europe, Australia and the US." . _:377d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:377e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12028118"; "Cockroach sensitivity in Norway: a previously unidentified problem?"; "PMID:12028118", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12028118+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In association with the Genetics of Asthma International Network (GAIN) study, we report sensitization to cockroaches and possible association with IgE-mediated diseases in Norway." . _:377f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational family study of asthma that in 1999-2001 recruited, at centres in Europe (among them the United Kingdom, Greece and Norway), Australia and the United States, nuclear families of probands aged 7-35 years with physician-diagnosed asthma and their symptomatic siblings, together with their parents, who were assessed by questionnaire, lung function and allergen skin prick testing, to search for asthma susceptibility loci and quantitative asthma phenotypes."; "PMID:12028118", "PMID:16391567", "PMID:16443614", "PMID:17847005", "PMID:18177490"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1475; "subjects with childhood-onset asthma and controls from the GAIN families genotyped in the GABRIEL GWAS (analysed subset), 2010 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4260321/"; rdfs:comment "GAIN Multiple countries 1475 1475 (56) — 1668 1668 (50) —" . _:37812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1668; "subjects with childhood-onset asthma and controls from the GAIN families genotyped in the GABRIEL GWAS (analysed subset), 2010 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4260321/"; rdfs:comment "GAIN Multiple countries 1475 1475 (56) — 1668 1668 (50) —" . _:37822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIN"; . _:37832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIN.AST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15646; , ; ; "PMID:21305692"; "The sample of the first genome-wide association study of the Bipolar Genome Study, funded through the Genetic Association Information Network (GAIN): unrelated cases with bipolar disorder of European American and African American ancestry from the collections of the NIMH Genetics Initiative for Bipolar Disorder in the United States, and controls matched by ethnicity, age and sex who were ascertained throughout the United States for the Molecular Genetics of Schizophrenia collaboration, all genotyped on the Affymetrix 6.0 array."; "GAIN bipolar sample", "GAIN-BP", "Genetic Association Information Network BD study", "Genetic Association Information Network Bipolar Sample", "NIMH Bipolar Disorder Genetic Association Information Network", "NIMH Genetic Association Information Network bipolar disorder project"; rdfs:label "Bipolar Disorder Genetic Association Information Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15646 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15646; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19488044+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify bipolar disorder (BD) genetic susceptibility factors, we conducted two genome-wide association (GWA) studies: one involving a sample of individuals of European ancestry (EA; n=1001 cases; n=1033 controls), and one involving a sample of individuals of African ancestry (AA; n=345 cases; n=670 controls)." . _:37852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3178836/"; rdfs:comment "Controls for both the GAIN-BP and BiGS samples were ascertained throughout the United States and genotyped on the Affymetrix 6.0 array as part of the Molecular Genetics of Schizophrenia II (MGS2) Collaboration (Sanders et al., 2008)." . _:37862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3035981/"; rdfs:comment "The initial BiGS GWA study was funded through the Foundation for the National Institutes of Health Genetic Information Association Network (GAIN) initiative (http://www.genome.gov/19518664) and we report the results of this GWA study here." . _:37872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21305692"; "Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder."; "PMID:21305692", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21305692+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We combined data from three GWAS: NIMH Bipolar Disorder Genetic Association Information Network (GAIN-BP), NIMH Bipolar Disorder Genome Study (BiGS), and a German sample." . _:37882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The sample of the first genome-wide association study of the Bipolar Genome Study, funded through the Genetic Association Information Network (GAIN): unrelated cases with bipolar disorder of European American and African American ancestry from the collections of the NIMH Genetics Initiative for Bipolar Disorder in the United States, and controls matched by ethnicity, age and sex who were ascertained throughout the United States for the Molecular Genetics of Schizophrenia collaboration, all genotyped on the Affymetrix 6.0 array."; "PMID:19488044", "PMID:21305692"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIN-BP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15653; , ; ; "PMID:24081561"; "A case-control genome-wide association study of major depressive disorder in the Netherlands, one of the six initial studies of the Genetic Association Information Network of the Foundation for the US National Institutes of Health, whose cases, with a lifetime diagnosis of major depressive disorder, came mainly from the Netherlands Study of Depression and Anxiety and also from the population-based cohorts NEMESIS, ARIADNE and the Netherlands Twin Register, and whose controls, selected for low genetic liability to major depressive disorder, came mainly from the Netherlands Twin Register and also from the Netherlands Study of Depression and Anxiety."; 1862; 1857; "GAIN-MDD", "GAIN-MDD study", "Genetic Association Information Network-MDD", "Genetic Association Information Network-MDD Study", "Major Depression Stage 1 Genomewide Association in Population-Based Samples Study", "Major Depression: Stage 1 Genomewide Association in Population-Based Samples"; rdfs:label "GAIN Major Depressive Disorder Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15653 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:378a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15653; "major depressive disorder"; "https://www.nature.com/articles/5201979"; rdfs:comment "Within these studies, 1862 participants with a diagnosis of MDD and 1857 controls at low liability for MDD have been selected for genome-wide genotyping by the US Foundation for the National Institutes of Health Genetic Association Information Network." . _:378b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/5201979"; rdfs:comment "In this paper, we briefly review linkage studies of MDD and then describe the large-scale nationwide biological sample collection in Dutch twin families from the Netherlands Twin Register (NTR) and in participants in the Netherlands Study of Depression and Anxiety (NESDA)." . _:378c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24081561"; "Genetic risk score analysis indicates migraine with and without comorbid depression are genetically different disorders."; "PMID:24081561", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3947136/"; rdfs:comment "The analyses in this paper are based on 2966 unrelated individuals from the GAIN-MDD study (Boomsma et al. 2008; Sullivan et al. 2008) with data on both migraine and MDD, who were genotyped on the Affymetrix Perlegen 5.0 platform." . _:378d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genome-wide association study of major depressive disorder in the Netherlands, one of the six initial studies of the Genetic Association Information Network of the Foundation for the US National Institutes of Health, whose cases, with a lifetime diagnosis of major depressive disorder, came mainly from the Netherlands Study of Depression and Anxiety and also from the population-based cohorts NEMESIS, ARIADNE and the Netherlands Twin Register, and whose controls, selected for low genetic liability to major depressive disorder, came mainly from the Netherlands Twin Register and also from the Netherlands Study of Depression and Anxiety."; "PMID:18197199", "PMID:19065144"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:378e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1862; "cases with MDD and controls at low liability for MDD selected for GAIN genome-wide genotyping; no total stated"; "PMID:18197199"; rdfs:comment "Within these studies, 1862 participants with a diagnosis of MDD and 1857 controls at low liability for MDD have been selected for genome-wide genotyping by the US Foundation for the National Institutes of Health Genetic Association Information Network." . _:378f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1857; "cases with MDD and controls at low liability for MDD selected for GAIN genome-wide genotyping; no total stated"; "PMID:18197199"; rdfs:comment "Within these studies, 1862 participants with a diagnosis of MDD and 1857 controls at low liability for MDD have been selected for genome-wide genotyping by the US Foundation for the National Institutes of Health Genetic Association Information Network." . _:37902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GAIN-MDD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15661; , , , , ; "PMID:20673984"; "A multicentre, international, family-based study of childhood asthma run from the University of California, San Francisco, which recruited Mexican and Puerto Rican children with asthma and their parents (parent–child trios) in Mexico City, the San Francisco Bay Area, Puerto Rico and New York City, to identify clinical and genetic risk factors for asthma."; 684; "GALA", "GALA Study", "GALA study", "Genetics of Asthma in Latino Americans (GALA) Study", "Genetics of Asthma in Latino Americans Study", "Genetics of Asthma in Latino Populations"; rdfs:label "Genetics of Asthma in Latino Americans"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15661 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15661; "asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.888/MediaObjects/41588_2011_BFng888_MOESM5_ESM.pdf"; rdfs:comment "Based on interviews and questionnaire data, children were included in the study if they were between the ages of 8-40 with physician diagnosed mild to moderate-severe asthma and had experienced two or more symptoms in the previous two years at time of recruitment (including wheezing, coughing and/or shortness of breath)." . _:37922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3091325/fullTextXML"; rdfs:comment "Using 104 ancestry informative markers, we examined spouse correlations in genetic ancestry for Mexican spouse pairs recruited from Mexico City and the San Francisco Bay Area, and Puerto Rican spouse pairs recruited from Puerto Rico and New York City." . _:37932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20673984"; "Dual-specificity phosphatase 1 as a pharmacogenetic modifier of inhaled steroid response among asthmatic patients."; "PMID:20673984", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20673984+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Study participants with asthma were drawn from the following multiethnic cohorts: the Genetics of Asthma in Latino Americans (GALA) study; the Study of African Americans, Asthma, Genes & Environments (SAGE); and the Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-ethnicity (SAPPHIRE)." . _:37942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, international, family-based study of childhood asthma run from the University of California, San Francisco, which recruited Mexican and Puerto Rican children with asthma and their parents (parent–child trios) in Mexico City, the San Francisco Bay Area, Puerto Rico and New York City, to identify clinical and genetic risk factors for asthma."; "PMID:19930545", "PMID:19951396", "PMID:21912604"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 684; "Mexican and Puerto Rican individuals with asthma (the probands) recruited; their parents are not counted"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14617512+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To determine whether ethnicity-specific differences in therapeutic response, clinical response, and/or genetic factors contribute to differences in asthma outcomes, we compared asthma-related clinical characteristics among 684 Mexican and Puerto Rican individuals with asthma recruited from San Francisco, New York City, Puerto Rico, and Mexico City." . _:37962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GALA"; . a owl:NamedIndividual, ; , ; "PMID:29917119"; "A colon cancer study in Galicia, Spain, carried out with the University Hospital of Santiago de Compostela (its surgery and pathology departments and biobank) and health research institutes in Santiago de Compostela and Vigo, whose participants were included in genome-wide association studies of colorectal cancer that pooled the studies of the CORECT, CCFR and GECCO consortia."; "GALEON", "GALicia Estudio Oncologico de coloN", "Galeon"; rdfs:label "GALicia Estudio Oncológico de coloN"@en . _:37972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6483948/fullTextXML"; rdfs:comment "the staff of the Department of Pathology and Biobank of CHUS, Instituto de Investigación Sanitaria de Santiago (IDIS), Instituto de Investigación Sanitaria Galicia Sur (IISGS), SERGAS, Vigo, Spain, and Programa Grupos Emergentes, Cancer Genetics Unit, CHUVI Vigo Hospital, Instituto de Salud Carlos III, Spain." . _:37982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29917119"; "Novel Common Genetic Susceptibility Loci for Colorectal Cancer."; "PMID:29917119", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6555904/"; rdfs:comment "GALicia Estudio Oncológico de coloN (GALEON): FIS Intrasalud (PI13/01136)." . _:37992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A colon cancer study in Galicia, Spain, carried out with the University Hospital of Santiago de Compostela (its surgery and pathology departments and biobank) and health research institutes in Santiago de Compostela and Vigo, whose participants were included in genome-wide association studies of colorectal cancer that pooled the studies of the CORECT, CCFR and GECCO consortia."; "PMID:29917119", "PMID:30476131", "PMID:30820706"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:379a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GALEON"; . _:379b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Galeon"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15673; , , ; ; "PGS012590", "PMID:39428694"; "A community-based longitudinal cohort study of Alzheimer's disease and related dementias in South Korea, established in 2013 and run by the GARD Cohort Research Center at Chosun University in Gwangju, whose participants, aged 60 or over, come mainly from local senior citizens' centres in the city of Gwangju, with additional people with Alzheimer's disease or mild cognitive impairment recruited from Chosun University Hospital and its affiliated hospitals in Gwangju and elsewhere in Korea, and are followed with repeated clinical and neuropsychological evaluation, neuroimaging and biospecimen collection for multi-omics analyses, for early detection and monitoring of dementia."; 12877; "GARD", "Gwangju Alzheimer and Related Dementias Study", "Gwangju Alzheimer' and Related Dementias", "Gwangju Alzheimer's & Related Dementias", "Gwangju Alzheimer's and Related Dementia"; ; rdfs:label "Gwangju Alzheimer's and Related Dementias"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:379c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15673; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12805525/fullTextXML"; rdfs:comment "The GARD cohort was established in 2013 as a large‐scale, community‐based prospective study to investigate early risk and protective factors across the AD spectrum." . _:379d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11667495/fullTextXML"; rdfs:comment "In brief, the primary GARD sample included individuals living in local senior citizens centers in the southwestern Korean city of Gwangju." . _:379e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS012590"; "A multiancestry polygenic risk score for Alzheimer's disease is associated with cognitive decline and neuropathological hallmarks in diverse populations."; "PMID:42661068" . _:379f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39428694"; "Whole-genome sequencing study in Koreans identifies novel loci for Alzheimer's disease."; "PMID:39428694", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11667495/fullTextXML"; rdfs:comment "The Korean sample included participants of the Gwangju Alzheimer's and Related Dementias (GARD) Study." . _:37a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based longitudinal cohort study of Alzheimer's disease and related dementias in South Korea, established in 2013 and run by the GARD Cohort Research Center at Chosun University in Gwangju, whose participants, aged 60 or over, come mainly from local senior citizens' centres in the city of Gwangju, with additional people with Alzheimer's disease or mild cognitive impairment recruited from Chosun University Hospital and its affiliated hospitals in Gwangju and elsewhere in Korea, and are followed with repeated clinical and neuropsychological evaluation, neuroimaging and biospecimen collection for multi-omics analyses, for early detection and monitoring of dementia."; "PMID:39428694", "PMID:41537461"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12877; "participants enrolled (from over 17,000 screened)"; "PMID:41537461"; rdfs:comment "From over 17,000 screened individuals, 12,877 were enrolled." . _:37a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GARD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15681, _:genid-371333f489424440b12a13b9d98ced822608-genid15683, _:genid-371333f489424440b12a13b9d98ced822608-genid15685, _:genid-371333f489424440b12a13b9d98ced822608-genid15687; , ; , ; "PMID:31033776"; "A genome-wide association study of the Gene Environment Association Studies initiative (GENEVA), deposited in dbGaP as phs000404, that genotyped nicotine-dependent smokers and non-dependent smoking controls from two projects, the Collaborative Genetic Study of Nicotine Dependence (recruited in Detroit and St. Louis) and the University of Wisconsin Transdisciplinary Tobacco Use Research Center smoking cessation trials (recruited in Madison and Milwaukee, Wisconsin), with harmonised measures, to identify genetic variants that contribute to nicotine dependence, related smoking behaviours and smoking cessation."; 1515; "GASSC", "The Genetic Architecture of Smoking and Smoking Cessation"; rdfs:label "Genetic Architecture of Smoking and Smoking Cessation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15683 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15685 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15687 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15681; "nicotine dependence"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "The overall goal of this project is to identify and characterize genetic variants that contribute to the development of nicotine dependence, related smoking behaviors, and smoking cessation." . _:37a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15683; "smoking"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "The overall goal of this project is to identify and characterize genetic variants that contribute to the development of nicotine dependence, related smoking behaviors, and smoking cessation." . _:37a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15685; "heavy tobacco consumption"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "The overall goal of this project is to identify and characterize genetic variants that contribute to the development of nicotine dependence, related smoking behaviors, and smoking cessation." . _:37a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15687; "nicotine dependence"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "The overall goal of this project is to identify and characterize genetic variants that contribute to the development of nicotine dependence, related smoking behaviors, and smoking cessation." . _:37a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "The COGEND sample includes unrelated cases and controls for a genetic association study of nicotine dependence." . _:37a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "The UW-TTURC sample includes nicotine dependent smokers from three smoking cessation studies." . _:37a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; rdfs:comment "Nicotine dependent smokers seeking cessation treatment were identified and recruited from Madison and Milwaukee, WI." . _:37aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31033776"; "Determining population stratification and subgroup effects in association studies of rare genetic variants for nicotine dependence."; "PMID:31033776", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6636808/fullTextXML"; rdfs:comment "To evaluate the validity of the extended methods, we analyzed the Genetic Architecture of Smoking and Smoking Cessation database, which includes African Americans and European Americans genotyped on Illumina Human Omni2.5, and we compared the results with those obtained with the sequence kernel association test (SKAT) and its modification, SKAT-O that included population stratification and subgroup effect as covariates." . _:37ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of the Gene Environment Association Studies initiative (GENEVA), deposited in dbGaP as phs000404, that genotyped nicotine-dependent smokers and non-dependent smoking controls from two projects, the Collaborative Genetic Study of Nicotine Dependence (recruited in Detroit and St. Louis) and the University of Wisconsin Transdisciplinary Tobacco Use Research Center smoking cessation trials (recruited in Madison and Milwaukee, Wisconsin), with harmonised measures, to identify genetic variants that contribute to nicotine dependence, related smoking behaviours and smoking cessation."; "PMID:31033776", "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs000404/phs000404.v1.p1/GapExchange_phs000404.v1.p1.xml"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1515; "individuals in the genotyped dataset, from the two contributing projects (the number the 2019 analysis of the dataset reports; it may be that paper's cleaned set rather than every subject dbGaP holds)"; "PMID:31033776"; rdfs:comment "All individuals (n = 1515) in the study were from two projects:" . _:37ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GASSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15696; , ; "PMID:38062264"; "A nation-wide cohort of adults living with bipolar disorder in Australia, run by QIMR Berghofer Medical Research Institute, recruited from 2018 in three waves (a nation-wide media campaign, a Services Australia mail-out to people dispensed lithium carbonate, and a follow-up survey of the Australian Genetics of Depression Study) who completed an online survey and were asked for a saliva sample for genotyping and consent to linkage of their Pharmaceutical and Medicare Benefits Schedule records, to study the relationships between genetic risk, symptom severity, treatment response, medication side effects and health care usage in bipolar disorder."; 6682; "Australian Genetics of Bipolar Disorder", "Australian Genetics of Bipolar Disorder study", "GBP", "GBP Study"; rdfs:label "Australian Genetics of Bipolar Disorder Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15696 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15696; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10619176/fullTextXML"; rdfs:comment "To address these questions, we established a nation-wide cohort of 6682 adults living with BD in Australia." . _:37af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10619176/fullTextXML"; rdfs:comment "To address these questions, we established a nation-wide cohort of 6682 adults living with BD in Australia." . _:37b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38062264"; "Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals."; "PMID:38062264", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10719093/fullTextXML"; rdfs:comment "for example, the QIMR Berghofer Australian Genetics of Depression Study (AGDS) cohort has high major depression comorbidity, and the Australian Genetics of Bipolar Disorder Study (GBP) cohort has high bipolar disorder comorbidity." . _:37b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nation-wide cohort of adults living with bipolar disorder in Australia, run by QIMR Berghofer Medical Research Institute, recruited from 2018 in three waves (a nation-wide media campaign, a Services Australia mail-out to people dispensed lithium carbonate, and a follow-up survey of the Australian Genetics of Depression Study) who completed an online survey and were asked for a saliva sample for genotyping and consent to linkage of their Pharmaceutical and Medicare Benefits Schedule records, to study the relationships between genetic risk, symptom severity, treatment response, medication side effects and health care usage in bipolar disorder."; "PMID:37655588"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6682; "adults living with bipolar disorder recruited in three waves and completing the survey (2021)"; "PMID:37655588"; rdfs:comment "A total of 6682 participants (68.3% female; aged 44.8 ± 13.6 years [range = 18–90]) were recruited in three waves: a nation-wide media campaign, a mail-out based on prescriptions for lithium carbonate and through the Australian Genetics of Depression Study." . _:37b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GBP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15703; , , ; "PGS003853", "PMID:29083407"; "A population-based case-control study of type 2 diabetes conducted from September 2009 to January 2010 in Bijie city, Guizhou province, China, recruiting through advertisement unrelated Han Chinese adults aged 30 to 80 with at least ten years' residence in Bijie city."; 1824; 1719; "GBTDS"; ; rdfs:label "Guizhou-Bijie Type 2 Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15703 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15703; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3978/MediaObjects/41588_2017_BFng3978_MOESM1_ESM.pdf"; rdfs:comment "The participants include 1,824 type 2 diabetic cases (955 male and 869 female) and 1,719 nondiabetic controls (828 male and 891 female) aged 30 to 80 years, with at least 10 years residence in Bijie city." . _:37b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3978/MediaObjects/41588_2017_BFng3978_MOESM1_ESM.pdf"; rdfs:comment "GBTDS is a population-based case-control study conducted from September 2009 to January 2010 in Bijie city of Guizhou province" . _:37b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003853"; "Age and Genetic Risk Score and Rates of Blood Lipid Changes in China."; "PMID:36988954" . _:37b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29083407"; "Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease."; "PMID:29083407", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3978/MediaObjects/41588_2017_BFng3978_MOESM1_ESM.pdf"; rdfs:comment "GBTDS is a population-based case-control study conducted from September 2009 to January 2010 in Bijie city of Guizhou province5 ." . _:37b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of type 2 diabetes conducted from September 2009 to January 2010 in Bijie city, Guizhou province, China, recruiting through advertisement unrelated Han Chinese adults aged 30 to 80 with at least ten years' residence in Bijie city."; "PMID:29083407"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:37b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1824; "GBTDS type 2 diabetes cases and nondiabetic controls recruited September 2009-January 2010"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3978/MediaObjects/41588_2017_BFng3978_MOESM1_ESM.pdf"; rdfs:comment "The participants include 1,824 type 2 diabetic cases (955 male and 869 female) and 1,719 nondiabetic controls (828 male and 891 female) aged 30 to 80 years, with at least 10 years residence in Bijie city." . _:37ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1719; "GBTDS type 2 diabetes cases and nondiabetic controls recruited September 2009-January 2010"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3978/MediaObjects/41588_2017_BFng3978_MOESM1_ESM.pdf"; rdfs:comment "The participants include 1,824 type 2 diabetic cases (955 male and 869 female) and 1,719 nondiabetic controls (828 male and 891 female) aged 30 to 80 years, with at least 10 years residence in Bijie city." . _:37bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GBTDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15712; , ; ; "PMID:25420145"; "A collection of patients with cervical artery dissection, of European origin, at the Sahlgrenska Academy of the University of Gothenburg, Sweden, drawn from the Sahlgrenska Academy Study on Ischemic Stroke and meeting the inclusion criteria of the CADISP study, which with controls from the same study formed one of the follow-up samples of the 2015 genome-wide association study of cervical artery dissection."; 71; "GCADC", "Gothenburg cervical artery dissection collection"; rdfs:label "Gothenburg Cervical Artery Dissection Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15712 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15712; "cervical artery dissection"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Additional DNA samples from CeAD patients of European origin were collected in 2010-2011 following CADISP inclusion criteria (Supplementary Fig. 1), through departments of neurology specialized in stroke care in Germany, the Netherlands, Sweden, Italy, France, Switzerland and the USA (Supplementary Table 4)." . _:37bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Sweden The Sahlgrenska Academy at Gothenburg University (SAHLSIS) Gothenburg 71" . _:37be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Sweden The Sahlgrenska Academy at Gothenburg University (SAHLSIS) Gothenburg 71 Sweden The Sahlgrenska Academy at Gothenburg University (SAHLSIS) Gothenburg 67" . _:37bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25420145"; "Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "The Gothenburg cervical artery dissection collection was supported by the Swedish Research Council (K2011-65X-14605-09-6) and the Swedish Heart-Lung Foundation (20100256)." . _:37c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with cervical artery dissection, of European origin, at the Sahlgrenska Academy of the University of Gothenburg, Sweden, drawn from the Sahlgrenska Academy Study on Ischemic Stroke and meeting the inclusion criteria of the CADISP study, which with controls from the same study formed one of the follow-up samples of the 2015 genome-wide association study of cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 71; "cervical artery dissection patients of European origin from Gothenburg (SAHLSIS) in the follow-up sample of the 2015 CeAD GWAS (analysed subset), 2010-2011"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Sweden The Sahlgrenska Academy at Gothenburg University (SAHLSIS) Gothenburg 71" . _:37c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCADC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15720; , ; "PMID:29186694"; "A family study of schizophrenia in the intramural research programme of the US National Institute of Mental Health, run by its Clinical Brain Disorders Branch and Genes, Cognition and Psychosis Program, that recruited patients with schizophrenia or schizoaffective disorder, their unaffected full siblings and healthy volunteers from local and national sources and studied them with cognitive testing, brain imaging and genotyping to identify intermediate phenotypes and risk genes for schizophrenia."; 964; "Clinical Brain Disorders Branch/National Institute of Mental Health sibling study", "GCAP", "NIMH Clinical Brain Disorder Branch (CBDB) Sibling Study of Schizophrenia Genetics", "NIMH Genes, Cognition and Psychosis Program", "NIMH Genes, Cognition and Psychosis Study"; rdfs:label "CBDB/NIMH Genetic Study of Schizophrenia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15720 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15720; "schizophrenia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2390785/"; rdfs:comment "We studied 169 patients with schizophrenia, 213 of their unaffected siblings, and 212 healthy volunteers from the CBDB/NIMH Genetic Study of Schizophrenia with magnetic resonance imaging (MRI)." . _:37c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5322272/"; rdfs:comment "GCAP NIMH Genes, Cognition and Psychosis Program USA" . _:37c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29186694"; "Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets."; "PMID:29186694", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5789458/"; rdfs:comment "The ASPIS and GCAP datasets were held out as target cohorts used for calculation of polygenic risk score modelling for “g”." . _:37c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of schizophrenia in the intramural research programme of the US National Institute of Mental Health, run by its Clinical Brain Disorders Branch and Genes, Cognition and Psychosis Program, that recruited patients with schizophrenia or schizoaffective disorder, their unaffected full siblings and healthy volunteers from local and national sources and studied them with cognitive testing, brain imaging and genotyping to identify intermediate phenotypes and risk genes for schizophrenia."; "PMID:11381111", "PMID:17689500", "PMID:25951819"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 964; "participants of the programme contributing to the Cognitive Genomics Consortium's genome-wide association study of general cognitive function (its healthy volunteers and unaffected siblings), not the whole study (2017)"; "PMID:28093568"; rdfs:comment "GCAP NIMH Genes, Cognition and Psychosis Program USA 964 33.8 9.8 18 61 438 0.45" . _:37c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15727; , ; "PGS003356", "PMID:36474045"; "A case-control study of coronary artery disease conducted in Greece, whose cases were patients hospitalised for acute coronary syndrome or diagnosed with left main coronary artery disease during hospitalisation, and whose controls were drawn from the TEENs of Attica: Genes and Environment study and a case-control study of non-alcoholic fatty liver disease."; 335; 1150; 1485; "GCC"; ; rdfs:label "Greek Coronary Disease Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15727 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15727; "coronary artery disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM1_ESM.pdf"; rdfs:comment "CAD cases included participants hospitalized for acute coronary syndrome or diagnosed with Left Main CAD during hospitalization." . _:37ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM1_ESM.pdf"; rdfs:comment "GCC is a case-control study conducted in Greece." . _:37cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003356"; "Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants."; "PMID:36474045" . _:37cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36474045"; "Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants."; "PMID:36474045", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM1_ESM.pdf"; rdfs:comment "The GCC study had obtained local ethics approval and all patients had provided written informed consent prior to enrolment." . _:37cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of coronary artery disease conducted in Greece, whose cases were patients hospitalised for acute coronary syndrome or diagnosed with left main coronary artery disease during hospitalisation, and whose controls were drawn from the TEENs of Attica: Genes and Environment study and a case-control study of non-alcoholic fatty liver disease."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:37ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 335; "GCC contribution to the 2022 coronary artery disease GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM4_ESM.xlsx"; rdfs:comment "Participant characteristics | n (cases/controls) | 356,875 (38,918/317,957) | 22,430 (10,365/12,065) | 3,929 (2,392/1,537) | 2,825 (1,639/1,186) | 6,524 (3,062/3,462) | 1,485 (335/1,150) | 69,635 (7,710/58,577) | 17,544 (4,539/13,005) | 26,737 (17,887/8,850) | 472,335 (33,941/438,394)" . _:37cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1150; "GCC contribution to the 2022 coronary artery disease GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM4_ESM.xlsx"; rdfs:comment "Participant characteristics | n (cases/controls) | 356,875 (38,918/317,957) | 22,430 (10,365/12,065) | 3,929 (2,392/1,537) | 2,825 (1,639/1,186) | 6,524 (3,062/3,462) | 1,485 (335/1,150) | 69,635 (7,710/58,577) | 17,544 (4,539/13,005) | 26,737 (17,887/8,850) | 472,335 (33,941/438,394)" . _:37d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1485; "GCC contribution to the 2022 coronary artery disease GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01233-6/MediaObjects/41588_2022_1233_MOESM4_ESM.xlsx"; rdfs:comment "Participant characteristics | n (cases/controls) | 356,875 (38,918/317,957) | 22,430 (10,365/12,065) | 3,929 (2,392/1,537) | 2,825 (1,639/1,186) | 6,524 (3,062/3,462) | 1,485 (335/1,150) | 69,635 (7,710/58,577) | 17,544 (4,539/13,005) | 26,737 (17,887/8,850) | 472,335 (33,941/438,394)" . _:37d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15737, _:genid-371333f489424440b12a13b9d98ced822608-genid15739; , ; , , ; "PGS000344", "PMID:33372680"; "The research collection of the German Consortium for Hereditary Breast and Ovarian Cancer, a nationwide consortium of university centres for familial breast and ovarian cancer in Germany, made up of index patients and relatives from families at high risk of hereditary breast and ovarian cancer who met the consortium's criteria for germline testing and were counselled and tested at its centres from the late 1990s on, with clinical and family-history data held in a central registry at the University of Leipzig; its BRCA1/2-mutation-negative familial breast cancer index cases are studied within the Breast Cancer Association Consortium and its data are also part of the Consortium of Investigators of Modifiers of BRCA1/2."; 561; 760; "GC-HBOC", "German Consortium for Hereditary Breast & Ovarian Cancer", "German Consortium for hereditary breast/ovarian cancer", "German Consortium of Hereditary Breast and Ovarian Cancer", "German Familial Breast Cancer Study", "German Familial Breast Group"; ; rdfs:label "German Consortium for Hereditary Breast and Ovarian Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15737 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15739 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15737; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5444628/fullTextXML"; rdfs:comment "Its aim is nationwide access to professional, individualized structured care for families at high risk for HBOC." . _:37d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15739; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5444628/fullTextXML"; rdfs:comment "Its aim is nationwide access to professional, individualized structured care for families at high risk for HBOC." . _:37d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:37d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33372680"; "Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers."; "PMID:33372680", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8246885/"; rdfs:comment "All individuals were identified through diagnostic germline testing in families recruited between January 1997 and June 2018 by 17 centers of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)." . _:37d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The research collection of the German Consortium for Hereditary Breast and Ovarian Cancer, a nationwide consortium of university centres for familial breast and ovarian cancer in Germany, made up of index patients and relatives from families at high risk of hereditary breast and ovarian cancer who met the consortium's criteria for germline testing and were counselled and tested at its centres from the late 1990s on, with clinical and family-history data held in a central registry at the University of Leipzig; its BRCA1/2-mutation-negative familial breast cancer index cases are studied within the Breast Cancer Association Consortium and its data are also part of the Consortium of Investigators of Modifiers of BRCA1/2."; "PMID:28542378", "PMID:32424353", "PMID:33372680", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 561; "GC-HBOC female CHEK2-carrier clinical analysis reported in 2021"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8246885/"; rdfs:comment "A total of 760 female CHEK2 mutation carriers were included; 561 women were affected with BC, of whom 74 developed metachronous contralateral BC (mCBC)." . _:37d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 760; "GC-HBOC female CHEK2-carrier clinical analysis reported in 2021"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8246885/"; rdfs:comment "A total of 760 female CHEK2 mutation carriers were included; 561 women were affected with BC, of whom 74 developed metachronous contralateral BC (mCBC)." . _:37d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GC-HBOC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. GCI is Genomics Collaborative, Inc., a company that held a DNA repository and supplied case-control sets to other researchers; the rheumatoid arthritis papers' 'Genomics Collaborative Initiative' is a misreading of its name. A company, not a cohort. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Genomics Collaborative Initiative"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15747; , , ; ; "PMID:23143601"; "A hospital-based case-control study of lung cancer in the Guangdong area of China, whose cases are ethnic Chinese in-patients with incident, histologically confirmed primary lung cancer of any histological type diagnosed at the Guangdong Lung Cancer Institute and Guangdong General Hospital, and whose controls are healthy, cancer-free patients from the health examination clinics of the same hospitals; one of the studies of the Female Lung Cancer Consortium in Asia genotyped for its genome-wide association study of lung cancer in never-smoking women."; 634; 123; "GDS"; rdfs:label "Guangdong Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15747 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15747; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "All of the cases were histologically confirmed primary lung cancer (all histological types)." . _:37db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The GDS enrolled cases and controls from the Guangdong area of China." . _:37dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23143601"; "Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia."; "PMID:23143601", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4169232/unicode"; rdfs:comment "External sets were genotyped as follows: a) samples from CAMSCH, FLCS, GDS, SLCS, TLCS, and WLCS were genotyped on contract at Gene-Square Biotech, Inc. in Beijing using the Illumina 660W SNP microarray; b) samples from GELAC were genotyped on contract at GeneTech Biotech Co., Taiwan on the Illumina 370k SNP microarray in a pilot project and remaining samples were genotyped on contract at deCODE Genetics, Iceland using the Illumina 610Q SNP microarray and initially reported elsewhere; c) a subset of samples from Japan were genotyped at Memorial Sloan-Kettering Cancer Center (MSKCC) using the Illumina 610Q SNP microarray; and d) samples from Singapore were genotyped at the Genome Institute of Singapore on the Illumina 660W SNP microarray." . _:37dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of lung cancer in the Guangdong area of China, whose cases are ethnic Chinese in-patients with incident, histologically confirmed primary lung cancer of any histological type diagnosed at the Guangdong Lung Cancer Institute and Guangdong General Hospital, and whose controls are healthy, cancer-free patients from the health examination clinics of the same hospitals; one of the studies of the Female Lung Cancer Consortium in Asia genotyped for its genome-wide association study of lung cancer in never-smoking women."; "PMID:23143601", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 634; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "GDS Mainland China 634 535 7 123 57.7(11.8) 58.3(11.3) 65.3(10.4) 40.3(10.7) NA*" . _:37df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 123; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "GDS Mainland China 634 535 7 123 57.7(11.8) 58.3(11.3) 65.3(10.4) 40.3(10.7) NA*" . _:37e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15755, _:genid-371333f489424440b12a13b9d98ced822608-genid15757; , ; ; "PGS000751", "PMID:21637779"; "A case-control study of prostate cancer run by the Henry Ford Health System in Detroit, Michigan, United States, which enrolled men of Caucasian or African American race younger than 75 years with adenocarcinoma of the prostate living in the metropolitan Detroit tri-county area, and controls randomly selected from the same Henry Ford Health System population base, between January 2001 and December 2004, to study gene-environment interaction in prostate cancer risk."; 637; 244; "GECAP", "The Gene-Environment Interaction in Prostate Cancer Study"; ; rdfs:label "Gene-Environment Interaction in Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15755 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15757 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15755; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1769317/"; rdfs:comment "To determine whether the GSTP1 Ile105Val polymorphism modifies prostate cancer risk associated with occupational PAH exposure, we studied 637 prostate cancer cases and 244 controls of White and African-American race from the Henry Ford Health System in Detroit, Michigan." . _:37e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15757; "occupational exposure to polycyclic aromatic hydrocarbons (PAHs)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1769317/"; rdfs:comment "Occupational exposure to PAH from wood, petroleum, coal or other sources through respiratory and cutaneous routes was retrospectively assessed by expert review of job histories." . _:37e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3102736/fullTextXML"; rdfs:comment "The Henry Ford Health System (HFHS) recruited cases diagnosed with adenocarcinoma of the prostate of Caucasian or African American race, less than 75 years of age, and living in the metropolitan Detroit tri-county area [41]." . _:37e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:37e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21637779"; "Characterizing genetic risk at known prostate cancer susceptibility loci in African Americans."; "PMID:21637779", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3102736/fullTextXML"; rdfs:comment "GECAP was supported by NIH grant ES011126." . _:37e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of prostate cancer run by the Henry Ford Health System in Detroit, Michigan, United States, which enrolled men of Caucasian or African American race younger than 75 years with adenocarcinoma of the prostate living in the metropolitan Detroit tri-county area, and controls randomly selected from the same Henry Ford Health System population base, between January 2001 and December 2004, to study gene-environment interaction in prostate cancer risk."; "PMID:17067754", "PMID:21637779"; "GPT-6 (OpenAI), 2026-09" . _:37e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 637; "GECAP participants completing the study protocol"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1769317/"; rdfs:comment "During the course of enrollment, eight cases and one control were found ineligible and 23 cases and 13 controls did not complete the study protocol, resulting in final study participation percentages of 75% (637/855) for cases and 64% (244/380) for controls." . _:37e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 244; "GECAP participants completing the study protocol"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1769317/"; rdfs:comment "During the course of enrollment, eight cases and one control were found ineligible and 23 cases and 13 controls did not complete the study protocol, resulting in final study participation percentages of 75% (637/855) for cases and 64% (244/380) for controls." . _:37e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GECAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15766, _:genid-371333f489424440b12a13b9d98ced822608-genid15768, _:genid-371333f489424440b12a13b9d98ced822608-genid15770, _:genid-371333f489424440b12a13b9d98ced822608-genid15772; , , ; , , , ; "PGS019953", "PMID:30482948"; "A consortium funded by the US National Institute on Drug Abuse that brought together four existing longitudinal, general-population studies with repeated assessments across childhood, adolescence and young adulthood, the Virginia Twin Study of Adolescent Behavioral Development, the Great Smoky Mountains Study and the Caring for Children in the Community study in the United States and the Christchurch Health and Development Study in New Zealand, to identify which genes, environments and developmental transitions together predict the development of drug use and misuse."; 2962; "GEDI", "Gene-Environment Development Initiative"; ; rdfs:label "Gene-Environment-Development Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15766 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15768 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15770 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15772 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15766; "alcohol use"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3609892/"; rdfs:comment "Four data sets were used whose common characteristics include (1) general population samples including males and females; (2) repeated measures across adolescence and young adulthood; (3) assessment of nicotine, alcohol and cannabis use and addiction; (4) measures of family and environmental risk; and (5) consent for genotyping DNA from blood or saliva." . _:37eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15768; "nicotine use"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3609892/"; rdfs:comment "Four data sets were used whose common characteristics include (1) general population samples including males and females; (2) repeated measures across adolescence and young adulthood; (3) assessment of nicotine, alcohol and cannabis use and addiction; (4) measures of family and environmental risk; and (5) consent for genotyping DNA from blood or saliva." . _:37ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15770; "cannabis use"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3609892/"; rdfs:comment "Four data sets were used whose common characteristics include (1) general population samples including males and females; (2) repeated measures across adolescence and young adulthood; (3) assessment of nicotine, alcohol and cannabis use and addiction; (4) measures of family and environmental risk; and (5) consent for genotyping DNA from blood or saliva." . _:37ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15772; "drug misuse"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3609892/"; rdfs:comment "As part of the NIDA-funded Gene-Environment-Development Initiative (GEDI) our goal is to identify exactly which genes, which environments, and which developmental transitions together predict the development of drug use and misuse." . _:37ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3609892/"; rdfs:comment "CHDS=Christchurch Health and Development Study" . _:37ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; rdfs:comment "The Duke arm of the NIDA-funded Gene-Environment-Development Initiative (GEDI) combined existing phenotypic and environmental data from two large prospective studies, the Great Smoky Mountains Study (GSMS) and the Caring for Children in the Community (CCC) study." . _:37f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; rdfs:comment "The VCU arm of the NIDA-funded Gene-Environment-Development Initiative (GEDI) combined existing phenotypic and environmental data from the Virginia Twin Study of Adolescent Behavioral Development (VTSABD) study, a population-based multi-wave, cohort-sequential twin study of adolescent psychopathology and its risk factors, and two follow- up studies, the Young Adult Follow Up (YAFU) and the Transitions to Substance Abuse (TSA) study." . _:37f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3609892/unicode"; rdfs:comment "The CHDS is a longitudinal study of a birth cohort from New Zealand." . _:37f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3609892/unicode"; rdfs:comment "This representative study of psychiatric illness and service use in African American and White youth took place in four rural counties in the southeastern USA." . _:37f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS019953"; "Alcohol is neither a risk factor nor a protective factor for sudden cardiac death and/or fatal ventricular arrhythmia: A population-based study with genetic traits and alcohol consumption in the UK Biobank."; "PMID:38697272" . _:37f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30482948"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6430207/fullTextXML"; rdfs:comment "Gene-Environment-Development Initiative (GEDI) – Duke University (GSMS): dbGAP accession phs000852.v1.p1" . _:37f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium funded by the US National Institute on Drug Abuse that brought together four existing longitudinal, general-population studies with repeated assessments across childhood, adolescence and young adulthood, the Virginia Twin Study of Adolescent Behavioral Development, the Great Smoky Mountains Study and the Caring for Children in the Community study in the United States and the Christchurch Health and Development Study in New Zealand, to identify which genes, environments and developmental transitions together predict the development of drug use and misuse."; "PMID:23461817"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2962; "individuals of the four member data sets retained after quality control in GEDI's combined data set"; "PMID:23461817"; rdfs:comment "After quality controls, 2,962 individuals provided over 15,000 total observations." . _:37f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEDI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15784; , , ; ; "PGS005169", "PMID:37955902"; "A genetic epidemiological study of lung cancer in Taiwan whose case-control component, from September 2002, recruited ethnically Han Chinese patients aged 18 years or older with histologically confirmed incident primary lung cancer from six medical centres, together with cancer-free controls matched on age, gender and ethnicity from the health-examination departments of the same hospitals, to evaluate questionnaire-based and genetic risk factors for lung cancer."; 3204; 2734; "GELAC", "Genetic Epidemiological Study for Lung AdenoCarcinoma", "Taiwan Genetic Epidemiological Study for Lung Adenocarcinoma"; ; rdfs:label "Genetic Epidemiological Study of Lung Adenocarcinoma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:37f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15784; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Cases were 18 years or more of age with incident primary lung cancer." . _:37f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10644212/fullTextXML"; rdfs:comment "This study used the case-control component of GELAC in Taiwan, which aimed to evaluate the associations between questionnaire-based and genetic risk factors and lung cancer." . _:37fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005169"; "Polygenic Risk Score, Environmental Tobacco Smoke, and Risk of Lung Adenocarcinoma in Never-Smoking Women in Taiwan."; "PMID:37955902" . _:37fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37955902"; "Polygenic Risk Score, Environmental Tobacco Smoke, and Risk of Lung Adenocarcinoma in Never-Smoking Women in Taiwan."; "PMID:37955902", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10644212/fullTextXML"; rdfs:comment "We conducted a preliminary study of never-smoking Asian women from the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC) to estimate the absolute risk of LUAD by integrating data on ETS exposure and genetic susceptibility, as well as test for gene-environment interactions." . _:37fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic epidemiological study of lung cancer in Taiwan whose case-control component, from September 2002, recruited ethnically Han Chinese patients aged 18 years or older with histologically confirmed incident primary lung cancer from six medical centres, together with cancer-free controls matched on age, gender and ethnicity from the health-examination departments of the same hospitals, to evaluate questionnaire-based and genetic risk factors for lung cancer."; "PMID:23143601", "PMID:37955902"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:37fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3204; "interviewed cases and recruited eligible controls in GELAC, September 2002 to April 2009"; "https://doi.org/10.1007/s10552-012-9994-x"; rdfs:comment "Among a total of 3,408 eligible cases, 3,204 were interviewed with a response rate of 94 %." . _:37fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2734; "interviewed cases and recruited eligible controls in GELAC, September 2002 to April 2009"; "https://doi.org/10.1007/s10552-012-9994-x"; rdfs:comment "We recruited 2,734 eligible controls with a response rate of 87 %." . _:37ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GELAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15793; , ; "PGS002270", "PMID:19654303"; "A case-control DNA resource for lung cancer established in March 1999 by the Institute of Cancer Research and adopted in 2002 onto the portfolio of the National Cancer Research Network, through which oncology departments across England recruited patients diagnosed with lung cancer between March 1999 and July 2004, and their spouses or partners without a history of cancer as controls, to collect DNA and clinico-pathological data for identifying low-penetrance susceptibility alleles for lung cancer."; 5269; 2094; "GELCAPS", "GEnetic Lung CAncer Predisposition Study"; ; rdfs:label "Genetic Lung Cancer Predisposition Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15793; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2535604/fullTextXML"; rdfs:comment "All patients diagnosed with lung cancer between March 1999 and July 2004 were eligible for the study." . _:38012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18715499+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GELCAPS was one of the first genetic epidemiological trials in the UK to be adopted by the National Cancer Research Network (NCRN) onto its portfolio with the participation of over 100 oncology departments specialising in the management of lung cancer." . _:38022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002270"; "Association of smoking and polygenic risk with the incidence of lung cancer: a prospective cohort study."; "PMID:35194190" . _:38032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19654303"; "Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study."; "PMID:19654303", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2754318/"; rdfs:comment "UK-GWA study Phase 2: An additional 2,484 cases (1,690 male, 794 female; mean age at diagnosis 72 years, SD 7) were ascertained through GELCAPS." . _:38042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control DNA resource for lung cancer established in March 1999 by the Institute of Cancer Research and adopted in 2002 onto the portfolio of the National Cancer Research Network, through which oncology departments across England recruited patients diagnosed with lung cancer between March 1999 and July 2004, and their spouses or partners without a history of cancer as controls, to collect DNA and clinico-pathological data for identifying low-penetrance susceptibility alleles for lung cancer."; "PMID:18715499"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5269; "cases with primary lung cancer and spouse or partner controls recruited between March 1999 and July 2004; the source states no combined total"; "PMID:18715499"; rdfs:comment "We terminated accrual to GELCAPS in July 2004 by which time samples from 5,269 cases with primary lung cancer and 2,094 controls had been recruited." . _:38062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2094; "cases with primary lung cancer and spouse or partner controls recruited between March 1999 and July 2004; the source states no combined total"; "PMID:18715499"; rdfs:comment "We terminated accrual to GELCAPS in July 2004 by which time samples from 5,269 cases with primary lung cancer and 2,094 controls had been recruited." . _:38072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GELCAPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15802; , , ; ; "PMID:34750403"; "A hospital-based case-control study of lung cancer in ethnic Chinese women in Singapore, recruited from 2005 to 2008 in the major public-sector hospitals (Changi General Hospital, National Cancer Centre, National University Hospital, Singapore General Hospital and Tan Tock Seng Hospital), with cases of primary lung carcinoma of all histological types and controls from the same hospitals frequency-matched by 10-year age group; it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; 399; 815; "GEL", "GEL-S", "Genes and Environment in Lung Cancer Study", "Genes and Environment in Lung Cancer, Singapore study"; rdfs:label "Genes and Environment in Lung Cancer, Singapore Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15802; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8575905/fullTextXML"; rdfs:comment "Diagnosis of primary lung cancer was ascertained either through histologic or cytologic reports (358 cases) or through radiologic reports (16 cases) with metastatic cancer to the lung from other sites was ruled unlikely." . _:38092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The GEL-S study is a case-control study carried out in the 5 major public-sector hospitals in Singapore5 (Changi General Hospital, National Cancer Centre, National University Hospital, Singapore General Hospital and Tan Tock Seng Hospital)." . _:380a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34750403"; "Association between family history and lung cancer risk among Chinese women in Singapore."; "PMID:34750403", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8575905/fullTextXML"; rdfs:comment "Data for the present analysis was obtained from the Genes and Environment in Lung Cancer (GEL) study, a case–control study conducted in public hospitals from 2005 to 2008." . _:380b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of lung cancer in ethnic Chinese women in Singapore, recruited from 2005 to 2008 in the major public-sector hospitals (Changi General Hospital, National Cancer Centre, National University Hospital, Singapore General Hospital and Tan Tock Seng Hospital), with cases of primary lung carcinoma of all histological types and controls from the same hospitals frequency-matched by 10-year age group; it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; "PMID:23143601", "PMID:34750403", "PMID:36530673"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:380c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 399; "GEL cases and eligible controls recruited in 2005-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9755194/fullTextXML"; rdfs:comment "The GEL study is a hospital-based case-control study of 815 controls and 399 cases recruited from 2005 to 2008, from Singapore public hospitals, including SGH, CGH, National University Hospital (NUH), and Tan Tock Seng Hospital (TTSH) (31, 32)." . _:380d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 815; "GEL cases and eligible controls recruited in 2005-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9755194/fullTextXML"; rdfs:comment "The GEL study is a hospital-based case-control study of 815 controls and 399 cases recruited from 2005 to 2008, from Singapore public hospitals, including SGH, CGH, National University Hospital (NUH), and Tan Tock Seng Hospital (TTSH) (31, 32)." . _:380e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEL"; . _:380f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEL-S"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15811; , ; ; "PMID:18676988"; "A Dutch population-based study of migraine embedded in the MORGEN project, in which adults aged 20 to 65 randomly selected from two Dutch county population registries (Maastricht and Doetinchem) to take part in a general health survey were screened for headache history, screen-positives were given a detailed headache questionnaire and a random subset a semistructured telephone clinical interview, and migraine was diagnosed by International Headache Society criteria, to study the prevalence, characteristics, cardiovascular risk profile and genetics of migraine."; "The acronym GEM also denotes Ginkgo Evaluation of Memory Study (COHO:0000682) and Genes in Myopia Study (COHO:0001806); this term is Genetic Epidemiology of Migraine Study."@en; 6491; "GEM", "GEM Study", "GEM study", "Genetic Epidemiology of Migraine", "Genetic Epidemiology of Migraine study"; rdfs:label "Genetic Epidemiology of Migraine Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15811 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15811; "migraine"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2566523/unicode"; rdfs:comment "The Leiden sample is a well-phenotyped population-based migraine cohort from the Genetic Epidemiology of Migraine (GEM) study from the Netherlands." . _:38112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15728281+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants (n = 5,755, 48% men, age 20 to 65 years) are from the Genetic Epidemiology of Migraine (GEM) study, a population-based study in the Netherlands." . _:38122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2566523/unicode"; rdfs:comment "The GEM cohort is embedded within the ‘MORGEN’ project—a population-based study designed to monitor risk factors for and the prevalence of chronic diseases of public health importance in Dutch adults 20-65 years of age." . _:38132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18676988"; "A high-density association screen of 155 ion transport genes for involvement with common migraine."; "PMID:18676988", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2566523/unicode"; rdfs:comment "The Leiden sample is a well-phenotyped population-based migraine cohort from the Genetic Epidemiology of Migraine (GEM) study from the Netherlands." . _:38142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch population-based study of migraine embedded in the MORGEN project, in which adults aged 20 to 65 randomly selected from two Dutch county population registries (Maastricht and Doetinchem) to take part in a general health survey were screened for headache history, screen-positives were given a detailed headache questionnaire and a random subset a semistructured telephone clinical interview, and migraine was diagnosed by International Headache Society criteria, to study the prevalence, characteristics, cardiovascular risk profile and genetics of migraine."; "PMID:10449117", "PMID:18676988", "PMID:19025553"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6491; "adults aged 20 to 65 selected at random from two Dutch county population registries and taking part in the general health survey (1999)"; "PMID:10449117"; rdfs:comment "The participants in the Genetic Epidemiology of Migraine Study were comprised of 6,491 adults, age 20 to 65 years, selected randomly from two county population registries in the Netherlands to participate in a general health survey (52.7% response)." . _:38162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15819, _:genid-371333f489424440b12a13b9d98ced822608-genid15821; , , , ; ; "PGS000004", "PMID:30430080"; "A multicentre study of carriers of pathogenic BRCA1 or BRCA2 variants, run through the French National Cancer Genetics Network of the UNICANCER Genetic Group, coordinated from Lyon (Hospices Civils de Lyon and Centre Léon Bérard) and the Institut Curie in Paris, with contributing cancer genetics centres across France and at Creighton University in Omaha, United States, to identify genetic modifiers of cancer risk in these carriers."; 6375; "GEMO", "Genetic Modifiers of BRCA1 and BRCA2", "Genetic Modifiers of BRCA1 and BRCA2 Study", "Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers"; ; rdfs:label "Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15819 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15821 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15819; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6220051/fullTextXML"; rdfs:comment "GEMO participants are from HBOC families ascertained prospectively through family cancer clinics and tested positive for a confirmed PV in BRCA1/2." . _:38182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15821; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6220051/fullTextXML"; rdfs:comment "GEMO participants are from HBOC families ascertained prospectively through family cancer clinics and tested positive for a confirmed PV in BRCA1/2." . _:38192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7890067/"; rdfs:comment "Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) study is a study from the National Cancer Genetics Network UNICANCER Genetic Group, France." . _:381a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-20496-3/MediaObjects/41467_2020_20496_MOESM1_ESM.pdf"; rdfs:comment "GEMO Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers France/USA" . _:381b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:381c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30430080"; "GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers."; "PMID:30430080", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6220051/fullTextXML"; rdfs:comment "As of April 2018, 5,303 participants with available DNA sample had been enrolled in GEMO." . _:381d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre study of carriers of pathogenic BRCA1 or BRCA2 variants, run through the French National Cancer Genetics Network of the UNICANCER Genetic Group, coordinated from Lyon (Hospices Civils de Lyon and Centre Léon Bérard) and the Institut Curie in Paris, with contributing cancer genetics centres across France and at Creighton University in Omaha, United States, to identify genetic modifiers of cancer risk in these carriers."; "PMID:28448241", "PMID:32665703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:381e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6375; "GEMO database participants as of December 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8320036/fullTextXML"; rdfs:comment "The updated version counted 6375 participants for GEMO (i.e. 1687 new participants), and 4925 participants for GENEPSO (i.e. 1586 new participants)." . _:381f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEMO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15830, _:genid-371333f489424440b12a13b9d98ced822608-genid15832; , , , , , , , , , ; "PMID:19165155"; "A multicentre, multinational family-based study initiated in 1999 to identify genes associated with the metabolic syndrome and related traits, in which affected status was defined by atherogenic dyslipidaemia (low HDL cholesterol with elevated triglycerides for age, sex and country). Its first arm recruited families of Turkish and southern European and of Northern and Western European origin at six sites in Australia, Canada, Finland, Turkey, Switzerland and the United States for linkage analysis; its second arm recruited unrelated cases with atherogenic dyslipidaemia and normolipidaemic controls of Northern and Western European origin at five of the sites for genome-wide association analysis."; "The acronym GEMS also denotes Genes and Environment in Multiple Sclerosis (COHO:0000909); this term is Genetic Epidemiology of Metabolic Syndrome Study."@en; 1025; 1008; "GEMS", "GEMS Study", "Genetic Epidemiology of Metabolic Syndrome", "Genetic Epidemiology of Metabolic Syndrome Project", "Genetic Epidemiology of Metabolic Syndrome study"; rdfs:label "Genetic Epidemiology of Metabolic Syndrome Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15830 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15832 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15830; "atherogenic dyslipidemia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4028785/unicode"; rdfs:comment "Eligible families consisted of a minimum of two siblings (an affected sib-pair) with atherogenic dyslipidemia (ADL), which was defined by the simultaneous presence of high triglyceride (≥75% percentile for age, sex, and country) and low HDL-cholesterol (HDL-C) (≤25% percentile for age, sex, and country) levels in plasma." . _:38212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15832; "metabolic syndrome"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4028785/unicode"; rdfs:comment "Eligible families consisted of a minimum of two siblings (an affected sib-pair) with atherogenic dyslipidemia (ADL), which was defined by the simultaneous presence of high triglyceride (≥75% percentile for age, sex, and country) and low HDL-cholesterol (HDL-C) (≤25% percentile for age, sex, and country) levels in plasma." . _:38222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4028785/unicode"; rdfs:comment "Families were recruited into the GEMS Study from six study sites, located in Australia, Canada, Finland, Turkey, Switzerland, and the United States." . _:38232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19165155"; "Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study."; "PMID:19165155", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19165155+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genes influencing variation in plasma adiponectin levels, we performed genome-wide linkage and association scans of adiponectin in two cohorts of subjects recruited in the Genetic Epidemiology of Metabolic Syndrome Study." . _:38242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, multinational family-based study initiated in 1999 to identify genes associated with the metabolic syndrome and related traits, in which affected status was defined by atherogenic dyslipidaemia (low HDL cholesterol with elevated triglycerides for age, sex and country). Its first arm recruited families of Turkish and southern European and of Northern and Western European origin at six sites in Australia, Canada, Finland, Turkey, Switzerland and the United States for linkage analysis; its second arm recruited unrelated cases with atherogenic dyslipidaemia and normolipidaemic controls of Northern and Western European origin at five of the sites for genome-wide association analysis."; "PMID:15642551", "PMID:19165155", "PMID:25164947"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1025; "cases with atherogenic dyslipidaemia and normolipidaemic controls of the association arm; the family (linkage) arm phenotyped 3,069 subjects from 450 families, and no source states a total for the study"; "PMID:19165155" . _:38262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1008; "cases with atherogenic dyslipidaemia and normolipidaemic controls of the association arm; the family (linkage) arm phenotyped 3,069 subjects from 450 families, and no source states a total for the study"; "PMID:19165155" . _:38272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15840, _:genid-371333f489424440b12a13b9d98ced822608-genid15842, _:genid-371333f489424440b12a13b9d98ced822608-genid15844, _:genid-371333f489424440b12a13b9d98ced822608-genid15846; "PGS019955", "PMID:38820342"; "A prospective observational cohort of kidney or kidney-pancreas transplant recipients, enrolled within 10 days of transplantation, and kidney donors, recruited from 2012 to 2016 at transplant centres in the United States (University of Alabama in Birmingham, University of Minnesota, Hennepin County Medical Center and Mayo Clinic) and Canada (University of Alberta) in a study sponsored by the National Institute of Allergy and Infectious Diseases with the Genomics of Transplantation Cooperative Research Program, to investigate the relationship between genetic variation and kidney transplant outcomes."; 962; "DAIT GEN-03", "GEN-03", "Genomics of Kidney Transplantation Study"; ; rdfs:label "Genomics of Kidney Transplantation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15840 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15842 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15844 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15846 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15840; "graft failure"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001667/phs001667.v1.p1/GapExchange_phs001667.v1.p1.xml"; rdfs:comment "Kidney (or kidney-pancreas) transplant recipient no more than 10 days post-transplant, or kidney donor no more than 30 days post-transplant, or previously enrolled in the Genomics of Kidney Transplantation study" . _:38292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15842; "end stage kidney disease"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001667/phs001667.v1.p1/GapExchange_phs001667.v1.p1.xml"; rdfs:comment "Kidney (or kidney-pancreas) transplant recipient no more than 10 days post-transplant, or kidney donor no more than 30 days post-transplant, or previously enrolled in the Genomics of Kidney Transplantation study" . _:382a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15844; "chronic graft dysfunction"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001667/phs001667.v1.p1/GapExchange_phs001667.v1.p1.xml"; rdfs:comment "Kidney (or kidney-pancreas) transplant recipient no more than 10 days post-transplant, or kidney donor no more than 30 days post-transplant, or previously enrolled in the Genomics of Kidney Transplantation study" . _:382b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15846; "acute rejection"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001667/phs001667.v1.p1/GapExchange_phs001667.v1.p1.xml"; rdfs:comment "Kidney (or kidney-pancreas) transplant recipient no more than 10 days post-transplant, or kidney donor no more than 30 days post-transplant, or previously enrolled in the Genomics of Kidney Transplantation study" . _:382c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS019955"; "Polygenic risk score for acute rejection based on donor-recipient non-HLA genotype mismatch."; "PMID:38820342" . _:382d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38820342"; "Polygenic risk score for acute rejection based on donor-recipient non-HLA genotype mismatch."; "PMID:38820342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11142483/fullTextXML"; rdfs:comment "Kidney transplant clinical information and genotyping data was collected from two cohort studies: DeKAF Genomics (2005–2011, NCT00270712) and GEN-03 (2012–2016, NCT01714440)." . _:382e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of kidney or kidney-pancreas transplant recipients, enrolled within 10 days of transplantation, and kidney donors, recruited from 2012 to 2016 at transplant centres in the United States (University of Alabama in Birmingham, University of Minnesota, Hennepin County Medical Center and Mayo Clinic) and Canada (University of Alberta) in a study sponsored by the National Institute of Allergy and Infectious Diseases with the Genomics of Transplantation Cooperative Research Program, to investigate the relationship between genetic variation and kidney transplant outcomes."; "PMID:38820342", "https://clinicaltrials.gov/study/NCT01714440"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:382f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 962; "transplant recipients with DNA samples and clinical data; the same sentence reports 442 donors as well, and the two are not added together"; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001667/phs001667.v1.p1/GapExchange_phs001667.v1.p1.xml"; rdfs:comment "We have developed a quality-controlled multicenter database with high quality data, and obtained DNA samples and clinical data on 962 recipients and 442 donors." . _:38302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEN-03"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15853, _:genid-371333f489424440b12a13b9d98ced822608-genid15855, _:genid-371333f489424440b12a13b9d98ced822608-genid15857; , ; "PMID:19403283"; "A school-based cross-sectional study of fifth- and sixth-grade children aged 10 to 14 years, enrolled between November 2005 and June 2006 from primary schools in the Attica region of Greece, which collected anthropometric, dietary, clinical, genetic, sociodemographic and lifestyle data from the children and their families to evaluate the contributions and interactions of genetic, dietary and physical activity factors in childhood obesity."; 1138; "GENDAI", "GENDAI Study", "GENe-Diet Attica Investigation on childhood obesity", "Gene and Diet Attica Investigation", "Gene-Diet Attica Investigation on Childhood Obesity", "Gene-Diet Attica investigation on childhood obesity"; rdfs:label "Gene-Diet Attica Investigation on childhood obesity"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15855 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15857 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15853; "dietary variables"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17378724+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Gene-Diet Attica Investigation on childhood obesity (GENDAI) evaluates the contributions to and pivotal interactions of genetic, dietary and physical activity variables on children's weight." . _:38322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15855; "physical activity variables"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17378724+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Gene-Diet Attica Investigation on childhood obesity (GENDAI) evaluates the contributions to and pivotal interactions of genetic, dietary and physical activity variables on children's weight." . _:38332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15857; "childhood obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2807029/fullTextXML"; rdfs:comment "The Gene–Diet Attica Investigation on childhood obesity (GENDAI) [3] was established to specifically explore the contribution of genetics and environmental factors in the development of childhood obesity." . _:38342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2807029/fullTextXML"; rdfs:comment "Briefly, a random sample of 2492 children attending school in the Attica region in Greece were invited to join the study." . _:38352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19403283"; "APOE, CETP and LPL genes show strong association with lipid levels in Greek children."; "PMID:19403283", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2807029/fullTextXML"; rdfs:comment "The GENDAI cohort consists of young children of both sexes attending school in the area of Attica, Greece." . _:38362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A school-based cross-sectional study of fifth- and sixth-grade children aged 10 to 14 years, enrolled between November 2005 and June 2006 from primary schools in the Attica region of Greece, which collected anthropometric, dietary, clinical, genetic, sociodemographic and lifestyle data from the children and their families to evaluate the contributions and interactions of genetic, dietary and physical activity factors in childhood obesity."; "PMID:17378724", "PMID:19403283", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2992213/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1138; "children recruited from schools in Attica, November 2005 to June 2006 (2005-2006)"; "PMID:19403283"; rdfs:comment "A total of 1138 children were recruited from November 2005 to June 2006." . _:38382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENDAI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15864, _:genid-371333f489424440b12a13b9d98ced822608-genid15866, _:genid-371333f489424440b12a13b9d98ced822608-genid15868; , , ; "PGS004896", "PMID:31537649"; "A cross-sectional multicentre study of people with insulin-dependent (type 1) diabetes and proliferative diabetic retinopathy, and so exposed to the risk of diabetic nephropathy, conducted from May 1994 to April 1995 in 17 diabetic clinics in France and Belgium, in which participants were classified by the severity of their renal involvement, to study the genetic determinants of diabetic nephropathy."; 494; "GENEDIAB", "GENEDIAB Study", "GEnétique de la NEphropathie DIABétique", "Genetics of Diabetic Nephropathy", "Genetique de la Nephropathie Diabetique"; ; rdfs:label "Génétique de la Néphropathie Diabétique"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15864 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15866 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid15868 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15864; "proliferative diabetic retinopathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9120002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "As angiotensin II increases glomerular pressure, we studied the relationship between genetic polymorphisms in the renin-angiotensin system-angiotensin I converting enzyme (ACE), angiotensinogen (AGT), and angiotensin II, subtype 1, receptor-and the renal involvement of insulin-dependent diabetic subjects with proliferative retinopathy: those exposed to the risk of nephropathy due to diabetes." . _:383a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15866; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9120002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "As angiotensin II increases glomerular pressure, we studied the relationship between genetic polymorphisms in the renin-angiotensin system-angiotensin I converting enzyme (ACE), angiotensinogen (AGT), and angiotensin II, subtype 1, receptor-and the renal involvement of insulin-dependent diabetic subjects with proliferative retinopathy: those exposed to the risk of nephropathy due to diabetes." . _:383b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15868; "insulin-dependent diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9120002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "As angiotensin II increases glomerular pressure, we studied the relationship between genetic polymorphisms in the renin-angiotensin system-angiotensin I converting enzyme (ACE), angiotensinogen (AGT), and angiotensin II, subtype 1, receptor-and the renal involvement of insulin-dependent diabetic subjects with proliferative retinopathy: those exposed to the risk of nephropathy due to diabetes." . _:383c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9120002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Of 494 subjects recruited in 17 centers in France and Belgium (GENEDIAB Study), 157 (32%) had no nephropathy, 104 (21%) incipient (microalbuminuria), 126 (25 %) established (proteinuria), and 107 (22%) advanced (plasma creatinine > or = 150 micromol/liter or renal replacement therapy) nephropathy." . _:383d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004896"; "Albuminuria-Related Genetic Biomarkers: Replication and Predictive Evaluation in Individuals with and without Diabetes from the UK Biobank."; "PMID:37446387" . _:383e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31537649"; "Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen."; "PMID:31537649", "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "France-Belgium: The GENEDIAB ('Génétique de la Néphropathie Diabétique, Genetics of Diabetic Nephropathy) and Genesis subjects were recruited in France, and in France- Belgium, respectively." . _:383f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional multicentre study of people with insulin-dependent (type 1) diabetes and proliferative diabetic retinopathy, and so exposed to the risk of diabetic nephropathy, conducted from May 1994 to April 1995 in 17 diabetic clinics in France and Belgium, in which participants were classified by the severity of their renal involvement, to study the genetic determinants of diabetic nephropathy."; "PMID:31537649", "PMID:9120002"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 494; "insulin-dependent diabetic subjects with proliferative retinopathy recruited and kept in the study at 17 centres in France and Belgium (1995)"; "PMID:9120002"; rdfs:comment "Of 494 subjects recruited in 17 centers in France and Belgium (GENEDIAB Study), 157 (32%) had no nephropathy, 104 (21%) incipient (microalbuminuria), 126 (25 %) established (proteinuria), and 107 (22%) advanced (plasma creatinine > or = 150 micromol/liter or renal replacement therapy) nephropathy." . _:38412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENEDIAB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15876; , ; "PGS000809", "PMID:22190364"; "The Swiss site sample, recruited at University Hospital Basel, Switzerland, of people with multiple sclerosis and controls enrolled in the Genetic Multiple Sclerosis Associations (GeneMSA) study, a prospective case-control study of multiple sclerosis started in 2003 and funded by GlaxoSmithKline at three clinical centres with identical inclusion criteria, of patients of northern-European ancestry with any clinical subtype of multiple sclerosis (preferentially relapsing onset) and unrelated controls (mainly spouses or partners, friends and other volunteers) group-matched on age and sex, to study genetic influences on susceptibility and on clinical and MRI phenotype; used as a separate stratum in genome-wide meta-analyses of multiple sclerosis."; 253; 208; "Gene MSA Switzerland", "GeneMSA-CH", "Gene_MSA_CH"; ; rdfs:label "Gene MSA CH"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15876 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15876; "multiple sclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4334814/"; rdfs:comment "This study recruited patients of northern-European ancestry, preferentially with a relapsing onset of MS, although individuals with all clinical subtypes of the disease participated, including clinically isolated syndrome (CIS), relapsing remitting MS (RRMS), secondary progressive MS (SPMS), primary progressive MS (PPMS) and progressive relapsing MS (PRMS)." . _:38432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2757648/"; rdfs:comment "CH, Switzerland; IMSGC, International MS Genetics Consortium; NL, Netherlands;" . _:38442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000809"; "Contribution of common risk variants to multiple sclerosis in Orkney and Shetland."; "PMID:34088990" . _:38452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22190364"; "Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci."; "PMID:22190364", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3247076/unicode"; rdfs:comment "Five strata (IMSGC-US, IMSGC-UK, GeneMSA-US, GeneMSA-NL, and GeneMSA-CH) were taken from a previously published meta-analysis." . _:38462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Swiss site sample, recruited at University Hospital Basel, Switzerland, of people with multiple sclerosis and controls enrolled in the Genetic Multiple Sclerosis Associations (GeneMSA) study, a prospective case-control study of multiple sclerosis started in 2003 and funded by GlaxoSmithKline at three clinical centres with identical inclusion criteria, of patients of northern-European ancestry with any clinical subtype of multiple sclerosis (preferentially relapsing onset) and unrelated controls (mainly spouses or partners, friends and other volunteers) group-matched on age and sex, to study genetic influences on susceptibility and on clinical and MRI phenotype; used as a separate stratum in genome-wide meta-analyses of multiple sclerosis."; "PMID:19010793", "PMID:19525953", "PMID:22570697"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 253; "multiple sclerosis cases and healthy controls of the Gene MSA CH stratum in the 2011 genome-wide meta-analysis (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:38482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 208; "multiple sclerosis cases and healthy controls of the Gene MSA CH stratum in the 2011 genome-wide meta-analysis (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:38492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneMSA-CH"; . _:384a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gene_MSA_CH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15886; , ; "PGS000809", "PMID:22190364"; "The Dutch site sample, recruited at Vrije Universiteit Medical Center in Amsterdam, the Netherlands, of people with multiple sclerosis and controls enrolled in the Genetic Multiple Sclerosis Associations (GeneMSA) study, a prospective case-control study of multiple sclerosis started in 2003 and funded by GlaxoSmithKline at three clinical centres with identical inclusion criteria, of patients of northern-European ancestry with any clinical subtype of multiple sclerosis (preferentially relapsing onset) and unrelated controls (mainly spouses or partners, friends and other volunteers) group-matched on age and sex, to study genetic influences on susceptibility and on clinical and MRI phenotype; used as a separate stratum in genome-wide meta-analyses of multiple sclerosis."; 230; 232; "Gene MSA Netherlands", "GeneMSA-NL", "Gene_MSA_NL"; ; rdfs:label "Gene MSA NL"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15886 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:384b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15886; "multiple sclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4334814/"; rdfs:comment "This study recruited patients of northern-European ancestry, preferentially with a relapsing onset of MS, although individuals with all clinical subtypes of the disease participated, including clinically isolated syndrome (CIS), relapsing remitting MS (RRMS), secondary progressive MS (SPMS), primary progressive MS (PPMS) and progressive relapsing MS (PRMS)." . _:384c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2757648/"; rdfs:comment "CH, Switzerland; IMSGC, International MS Genetics Consortium; NL, Netherlands;" . _:384d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000809"; "Contribution of common risk variants to multiple sclerosis in Orkney and Shetland."; "PMID:34088990" . _:384e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22190364"; "Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci."; "PMID:22190364", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3247076/unicode"; rdfs:comment "Five strata (IMSGC-US, IMSGC-UK, GeneMSA-US, GeneMSA-NL, and GeneMSA-CH) were taken from a previously published meta-analysis." . _:384f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Dutch site sample, recruited at Vrije Universiteit Medical Center in Amsterdam, the Netherlands, of people with multiple sclerosis and controls enrolled in the Genetic Multiple Sclerosis Associations (GeneMSA) study, a prospective case-control study of multiple sclerosis started in 2003 and funded by GlaxoSmithKline at three clinical centres with identical inclusion criteria, of patients of northern-European ancestry with any clinical subtype of multiple sclerosis (preferentially relapsing onset) and unrelated controls (mainly spouses or partners, friends and other volunteers) group-matched on age and sex, to study genetic influences on susceptibility and on clinical and MRI phenotype; used as a separate stratum in genome-wide meta-analyses of multiple sclerosis."; "PMID:19010793", "PMID:19525953", "PMID:22570697"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 230; "multiple sclerosis cases and healthy controls of the Gene MSA NL stratum in the 2011 genome-wide meta-analysis (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:38512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 232; "multiple sclerosis cases and healthy controls of the Gene MSA NL stratum in the 2011 genome-wide meta-analysis (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:38522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneMSA-NL"; . _:38532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gene_MSA_NL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15896; , ; "PGS000809", "PMID:22190364"; "The United States site sample, recruited at the University of California San Francisco, of people with multiple sclerosis and controls enrolled in the Genetic Multiple Sclerosis Associations (GeneMSA) study, a prospective case-control study of multiple sclerosis started in 2003 and funded by GlaxoSmithKline at three clinical centres with identical inclusion criteria, of patients of northern-European ancestry with any clinical subtype of multiple sclerosis (preferentially relapsing onset) and unrelated controls (mainly spouses or partners, friends and other volunteers) group-matched on age and sex, to study genetic influences on susceptibility and on clinical and MRI phenotype; used as a separate stratum in genome-wide meta-analyses of multiple sclerosis."; 486; 431; "GeneMSA-US", "Gene_MSA_US"; ; rdfs:label "Gene MSA US"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15896 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15896; "multiple sclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4334814/"; rdfs:comment "This study recruited patients of northern-European ancestry, preferentially with a relapsing onset of MS, although individuals with all clinical subtypes of the disease participated, including clinically isolated syndrome (CIS), relapsing remitting MS (RRMS), secondary progressive MS (SPMS), primary progressive MS (PPMS) and progressive relapsing MS (PRMS)." . _:38552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4334814/"; rdfs:comment "Three MS clinical centers were involved in patient enrollment and biological specimen collection using identical inclusion criteria, two in Europe (Vrije Universiteit Medical Center, Amsterdam; and University Hospital Basel) and one in the USA (University of California San Francisco)." . _:38562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000809"; "Contribution of common risk variants to multiple sclerosis in Orkney and Shetland."; "PMID:34088990" . _:38572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22190364"; "Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci."; "PMID:22190364", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3247076/unicode"; rdfs:comment "Five strata (IMSGC-US, IMSGC-UK, GeneMSA-US, GeneMSA-NL, and GeneMSA-CH) were taken from a previously published meta-analysis." . _:38582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The United States site sample, recruited at the University of California San Francisco, of people with multiple sclerosis and controls enrolled in the Genetic Multiple Sclerosis Associations (GeneMSA) study, a prospective case-control study of multiple sclerosis started in 2003 and funded by GlaxoSmithKline at three clinical centres with identical inclusion criteria, of patients of northern-European ancestry with any clinical subtype of multiple sclerosis (preferentially relapsing onset) and unrelated controls (mainly spouses or partners, friends and other volunteers) group-matched on age and sex, to study genetic influences on susceptibility and on clinical and MRI phenotype; used as a separate stratum in genome-wide meta-analyses of multiple sclerosis."; "PMID:19010793", "PMID:19525953", "PMID:22570697"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 486; "multiple sclerosis cases and healthy controls of the Gene MSA US stratum in the 2011 genome-wide meta-analysis (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:385a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 431; "multiple sclerosis cases and healthy controls of the Gene MSA US stratum in the 2011 genome-wide meta-analysis (Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:385b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeneMSA-US"; . _:385c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gene_MSA_US"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15906; , , , , ; ; "PGS000742", "PMID:27515689"; "A biorepository of frozen lymphocytes and DNA from patients treated with radiotherapy for cancer, with a database of their diagnosis, treatment and outcome, run from the Icahn School of Medicine at Mount Sinai, whose patients include men treated for prostate cancer at the Mount Sinai Hospital in New York and patients treated in Tokyo and Chiba, Japan, and which was set up to find genetic variants that predict adverse effects of radiotherapy."; 895; "Gene-PARE", "Gene-PARE project", "Gene-PARE study", "GenePARE", "Genetic Predictors of Adverse Radiotherapy Effects Study"; ; rdfs:label "Genetic Predictors of Adverse Radiotherapy Effects"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15906 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:385d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15906; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16751059+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The development of adverse effects resulting from the radiotherapy of cancer limits the use of this treatment modality." . _:385e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "Gene-PARE (n=253) Genetic Predictors of Adverse Radiotherapy Effects New York, USA and Tokyo/Chiba, Japan Hospital-based" . _:385f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5036513/fullTextXML"; rdfs:comment "Individuals had brachytherapy with/without EBRT at the Mount Sinai Hospital, New York, and 472 received hormone therapy." . _:38602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:38612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27515689"; "Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer."; "PMID:27515689", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5036513/fullTextXML"; rdfs:comment "The four cohorts (RAPPER, RADIOGEN, Gene-PARE, and CCI) comprised individuals with adenocarcinoma of the prostate treated with radiotherapy with curative intent." . _:38622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository of frozen lymphocytes and DNA from patients treated with radiotherapy for cancer, with a database of their diagnosis, treatment and outcome, run from the Icahn School of Medicine at Mount Sinai, whose patients include men treated for prostate cancer at the Mount Sinai Hospital in New York and patients treated in Tokyo and Chiba, Japan, and which was set up to find genetic variants that predict adverse effects of radiotherapy."; "PMID:16751059", "PMID:27515689", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 895; "Gene-PARE prostate radiotherapy cohort in the 2016 meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5036513/fullTextXML"; rdfs:comment "Gene-PARE (n = 895) (Ho et al., 2006) was approved by the Mount Sinai Medical Center Institutional Review Board." . _:38642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gene-PARE"; . _:38652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenePARE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15916; , , , , , , , , , ; ; "PMID:18986508"; "An international multicentre study of the genetics of familial Parkinson's disease, designed for genetic linkage analysis of affected relative pairs, that recruits families with at least two members with Parkinson's disease meeting diagnostic criteria, ascertained through a proband with an affected sibling, parent, offspring or more distant relative, at academic centres and clinics in the United States, Canada, Australia, Germany, Italy, the United Kingdom and Denmark."; "GenePD", "GenePD study", "Genome-wide scan for Parkinsons diseasę Initiative"; rdfs:label "GenePD Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15916 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15916; "Parkinson's disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2655323/"; rdfs:comment "The GenePD study is an ongoing study of familial PD which recruits families with at least two cases of PD meeting diagnostic criteria." . _:38672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2655323/"; rdfs:comment "Participants were enrolled through thirty academic centers or clinics (19 in the United States, three in Canada, two in Australia, two in Germany, two in Italy, one in the United Kingdom, and one in Denmark)." . _:38682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18986508"; "The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study."; "PMID:18986508", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2596771/fullTextXML"; rdfs:comment "Study participants were recruited by the GenePD study, an international multi-site study of the genetics of PD, using three ascertainment strategies: 1) PD-affected probands with a PD-affected sibling; 2) PD-affected probands with a PD-affected parent or offspring; and 3) PD-affected probands with another PD-affected relative such as a cousin, aunt or uncle." . _:38692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international multicentre study of the genetics of familial Parkinson's disease, designed for genetic linkage analysis of affected relative pairs, that recruits families with at least two members with Parkinson's disease meeting diagnostic criteria, ascertained through a proband with an affected sibling, parent, offspring or more distant relative, at academic centres and clinics in the United States, Canada, Australia, Germany, Italy, the United Kingdom and Denmark."; "PMID:17408493", "PMID:18649400", "PMID:18986508"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:386a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenePD"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. GeneSTAR_b is the PGS Catalog's second id for GeneSTAR, which its own acknowledgements name 'The Johns Hopkins Genetic Study of Atherosclerosis Risk (GeneSTAR)'. Replaced by COHO:0000455 (Genetic Study of Atherosclerosis Risk), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Johns Hopkins - Genetic STudy of Atherosclerosis Risk"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15922; , , ; ; "PMID:37674002"; "A South Korean case–control study of host genetic influences on the severity of COVID-19, contributed to the COVID-19 Host Genetics Initiative, that compares patients hospitalised with COVID-19 with controls, all of East Asian ancestry, under the review of eight Korean institutional review boards, among them those of Chungnam National University Hospital, Keimyung University Dongsan Hospital, Myongji Hospital and Pusan National University Hospital; its cases were genotyped on version 1.1 and its controls on version 1.0 of the Korea Biobank Array (KoreanChip)."; "Genetics_COVID19_Korea"; rdfs:label "Genetic influences on severity of COVID-19 illness in Korea"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:386b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15922; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries." . _:386c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37674002"; "A second update on mapping the human genetic architecture of COVID-19."; "PMID:37674002", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10482689/fullTextXML"; rdfs:comment "for the Genetic influences on severity of COVID-19 illness in Korea" . _:386d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A South Korean case–control study of host genetic influences on the severity of COVID-19, contributed to the COVID-19 Host Genetics Initiative, that compares patients hospitalised with COVID-19 with controls, all of East Asian ancestry, under the review of eight Korean institutional review boards, among them those of Chungnam National University Hospital, Keimyung University Dongsan Hospital, Myongji Hospital and Pusan National University Hospital; its cases were genotyped on version 1.1 and its controls on version 1.0 of the Korea Biobank Array (KoreanChip)."; "PMID:34237774", "PMID:37674002"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:386e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genetics_COVID19_Korea"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15927; , ; "PGS004903", "PMID:29083406"; "A German case-control sample for genetic studies of atopic dermatitis, whose cases are patients recruited at the tertiary dermatology clinics of the Technische Universität München (in the GENEVA study itself), the University of Kiel and the University of Bonn and diagnosed by dermatologists on skin examination, and whose controls come from the PopGen biobank and the population-based KORA surveys."; 2633; "GENEVA", "GENEVA Study", "Genetic evaluation of atopic dermatitis"; ; rdfs:label "GENEVA study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15927 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:386f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15927; "atopic dermatitis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3985/MediaObjects/41588_2017_BFng3985_MOESM1_ESM.pdf"; rdfs:comment "Atopic dermatitis patients were recruited from tertiary dermatology clinics based at three centers (Technische Universität München, as part of the GENEVA study, University of Kiel, University of Bonn) and diagnosed on the basis of skin examination by experienced dermatologists according to standard criteria 31 ." . _:38702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3272375/fullTextXML"; rdfs:comment "Cases were obtained from German university hospitals (Technical University Munich as part of the GENEVA study, and University of Kiel)." . _:38712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004903"; "Integrated proteomics and genomics analysis of paradoxical eczema in psoriasis patients treated with biologics."; "PMID:37536512" . _:38722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29083406"; "Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology."; "PMID:29083406", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3985/MediaObjects/41588_2017_BFng3985_MOESM1_ESM.pdf"; rdfs:comment "Atopic dermatitis patients were recruited from tertiary dermatology clinics based at three centers (Technische Universität München, as part of the GENEVA study, University of Kiel, University of Bonn) and diagnosed on the basis of skin examination by experienced dermatologists according to standard criteria 31 ." . _:38732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German case-control sample for genetic studies of atopic dermatitis, whose cases are patients recruited at the tertiary dermatology clinics of the Technische Universität München (in the GENEVA study itself), the University of Kiel and the University of Bonn and diagnosed by dermatologists on skin examination, and whose controls come from the PopGen biobank and the population-based KORA surveys."; "PMID:22197932", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3985/MediaObjects/41588_2017_BFng3985_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41180-2/MediaObjects/41467_2023_41180_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2633; "German atopic dermatitis cases and population controls of the GENEVA sample analysed in the 2017 allergic disease GWAS (analysed sample)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3985/MediaObjects/41588_2017_BFng3985_MOESM3_ESM.xlsx"; rdfs:comment "GENEVA | Selected case-control | Eczema | 2633 | 1274 | 1359 | 41 | 154 | 383 | | 29 | 65 | 309 | | 289 | 89 | 692 | 43.9 (0-85) | 56 | | NA | NA | 11.7 (0-85)" . _:38752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENEVA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15935; ; , ; "PGS000770", "PMID:23669352"; "A multi-site genome-wide association study of dental caries in the NIH Gene Environment Association Studies (GENEVA) consortium, which genotyped families and unrelated individuals with dental caries data from the Center for Oral Health Research in Appalachia in Pennsylvania and West Virginia, the University of Pittsburgh School of Dental Medicine Dental Registry and DNA Repository, the Iowa Fluoride Study and Iowa Bone Development Study, and the Iowa Head Start Study, United States."; 5291; "Caries GENEVA Study", "Dental Caries: GENEVA Genome Wide Association Study", "GENEVA Dental Caries", "GENEVA Dental Caries Study", "GENEVA caries consortium", "GENEVA dental caries project", "GENEVA-DCS"; ; rdfs:label "Dental Caries: Whole Genome Association and Gene x Environment Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15935; "dental caries"; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "The Dental Caries: GENEVA Genome Wide Association Study (Caries GENEVA Study) is a multi-site collaboration that is part of the GENEVA consortium (www.genevastudy.org)." . _:38772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6591304/fullTextXML"; rdfs:comment "The Center for Oral Health in Appalachia cohort 1 (COHRA1), which is part of the GENEVA caries consortium" . _:38782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; rdfs:comment "Subjects were recruited from Pennsylvania, West Virginia and Iowa through three on-going population-based family cohort studies of factors related to oral health: the Center for Oral Health Research in Appalachia (COHRA; Polk et al 2008, Wang et al, 2010), the Iowa Fluoride Study (IFS; Marshall et al 2007) and the Iowa Bone Development Study (IBDS; Marshall et al 2008)." . _:38792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:387a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23669352"; "Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course."; "PMID:23669352", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3736869/"; rdfs:comment "Dental Caries: Whole Genome Association and Gene x Environment Studies (GENEVA Dental Caries)." . _:387b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site genome-wide association study of dental caries in the NIH Gene Environment Association Studies (GENEVA) consortium, which genotyped families and unrelated individuals with dental caries data from the Center for Oral Health Research in Appalachia in Pennsylvania and West Virginia, the University of Pittsburgh School of Dental Medicine Dental Registry and DNA Repository, the Iowa Fluoride Study and Iowa Bone Development Study, and the Iowa Head Start Study, United States."; "PMID:21940522", "PMID:23259602", "PMID:34622142", "https://www.downstate.edu/research/centers-departments/henri-begleiter-neurodynamics-laboratory/_documents/2012-Hartz-IncreasedgeneticvulnerabilitytosmokingatCHRNA5inearly-onsetsmokers-Supplement.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:387c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5291; "individuals with dental caries phenotype data in the study's dbGaP data set phs000095.v3.p1, of whom 4,020 were genotyped"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8494074/"; rdfs:comment "One participating study (dbGaP accession: phs000095.v3.p1) of this program collected dental caries data for 5,291 phenotyped and 4,020 genotyped individuals (including cohort of families and unrelated individuals)." . _:387d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENEVA-DCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15944; , ; , ; "PMID:19536175"; "A family study of the genetics of blood pressure and hypertension in the United States, one of the four networks of the NHLBI Family Blood Pressure Program, which from 1995 recruited nuclear families through young and middle-aged probands with blood pressure in the upper part of the distribution and enrolled their siblings and parents regardless of blood pressure: European Americans in Tecumseh, Michigan, African Americans in Maywood, Illinois, and also Mexican American families."; 2559; "FBPP-GenNet", "GenNet", "GenNet Network", "GenNet study"; rdfs:label "GenNet Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15944 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:387e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15944; "hypertension"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2783544/"; rdfs:comment "GenNet recruited African-American (n=1101) and European-American participants (n=1497) at two field-centers between 1995 and 2003, based on a hypertensive proband." . _:387f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2783544/"; rdfs:comment "Non-Hispanic white subjects were recruited from Tecumseh, Michigan, and African-American subjects were recruited from Maywood, Illinois." . _:38802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19536175"; "Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study."; "PMID:19536175", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19536175+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We previously published a large genome-wide linkage scan in Americans of African (AA) and European (EA) descent in the GenNet Network of the Family Blood Pressure Program (FBPP)." . _:38812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of the genetics of blood pressure and hypertension in the United States, one of the four networks of the NHLBI Family Blood Pressure Program, which from 1995 recruited nuclear families through young and middle-aged probands with blood pressure in the upper part of the distribution and enrolled their siblings and parents regardless of blood pressure: European Americans in Tecumseh, Michigan, African Americans in Maywood, Illinois, and also Mexican American families."; "PMID:16076393", "PMID:19536175", "PMID:21151011", "PMID:21909115"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2559; "GenNet participants in 676 families (African American, Mexican American and white) in the pooled FBPP linkage data set, singletons excluded (analysed subset)"; "PMID:21151011"; rdfs:comment "GenNet Black 266 F 475 42 38 27 32.7 126.1 76.8 93.2 49.3 M 320 39 30 11 27.1 129.2 79.0 95.7 50.2 Hispanic 184 F 492 36 11 9 29.0 109.4 60.5 76.8 48.9 M 301 33 13 8 28.1 116.2 63.3 80.9 52.9 White 226 F 537 46 33 26 29.2 119.8 67.7 85.1 52.2 M 434 44 34 23 28.9 127.1 72.7 90.8 54.4 Total 676 - 2,559" . _:38832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FBPP-GenNet"; . _:38842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenNet"; . a owl:NamedIndividual, ; , , , , , ; , , , , , , , , , ; ; "PGS000814", "PMID:20686565"; "A European Community-funded research project that joined eight large twin registers (the national twin cohorts of Denmark, Finland, Italy, the Netherlands, Norway and Sweden, the UK TwinsUK cohort and an Australian twin cohort) with the multinational MORGAM population cohort, to identify genetic and lifestyle contributors to common diseases by linkage and association studies."; 300000; "GenomEUTwin", "GenomEUtwin project", "GenomEUtwin study"; ; rdfs:label "GenomEUtwin"@en . _:38852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "Twin samples were drawn from the GenomEUtwin project23 , which is comprised of the Danish, Dutch, Finnish, Italian, Norwegian, and Swedish national twin cohorts, an Australian twin cohort, and the UK-based TwinsUK cohort." . _:38862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14624719+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this issue of Twin Research, we describe different facets of a European Community funded effort, GenomEUtwin, which capitalises on eight of the world's largest and best characterised twin registers and a multi-national population cohort, MORGAM." . _:38872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "Twin samples were drawn from the GenomEUtwin project23 , which is comprised of the Danish, Dutch, Finnish, Italian, Norwegian, and Swedish national twin cohorts, an Australian twin cohort, and the UK-based TwinsUK cohort." . _:38882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "Twin samples were drawn from the GenomEUtwin project23 , which is comprised of the Danish, Dutch, Finnish, Italian, Norwegian, and Swedish national twin cohorts, an Australian twin cohort, and the UK-based TwinsUK cohort." . _:38892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "Twin samples were drawn from the GenomEUtwin project23 , which is comprised of the Danish, Dutch, Finnish, Italian, Norwegian, and Swedish national twin cohorts, an Australian twin cohort, and the UK-based TwinsUK cohort." . _:388a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3629375/"; rdfs:comment "The DTR participated in the European twin study GenomEUtwin with the data from GEMINAKAR (Kettunen et al., 2009)." . _:388b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "Twin samples were drawn from the GenomEUtwin project23 , which is comprised of the Danish, Dutch, Finnish, Italian, Norwegian, and Swedish national twin cohorts, an Australian twin cohort, and the UK-based TwinsUK cohort." . _:388c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000814"; "Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study."; "PMID:23433573" . _:388d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20686565"; "Biological, clinical and population relevance of 95 loci for blood lipids."; "PMID:20686565", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "Twin samples were drawn from the GenomEUtwin project23 , which is comprised of the Danish, Dutch, Finnish, Italian, Norwegian, and Swedish national twin cohorts, an Australian twin cohort, and the UK-based TwinsUK cohort." . _:388e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European Community-funded research project that joined eight large twin registers (the national twin cohorts of Denmark, Finland, Italy, the Netherlands, Norway and Sweden, the UK TwinsUK cohort and an Australian twin cohort) with the multinational MORGAM population cohort, to identify genetic and lifestyle contributors to common diseases by linkage and association studies."; "PMID:14624719", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:388f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 300000; "twins in the eight member twin cohorts (stated as a lower bound, 'over 300,000')"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2687074/unicode"; rdfs:comment "The Danish, Dutch, Finnish, Italian, Norwegian and Swedish national twin cohorts, together with St. Thomas’ twin cohort in Great Britain and an Australian twin cohort, form the basis of the GenomEUtwin project, a collection of over 300,000 twins." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15963; , ; "PMID:34300314"; "A multicentre Spanish study of patients of European ancestry with acute ischaemic stroke, admitted to the emergency rooms of Vall d'Hebron Hospital in Barcelona and other Spanish hospitals and treated with recombinant tissue plasminogen activator (r-tPA), set up to find genetic variants associated with haemorrhagic transformation and death after thrombolysis."; 844; "Genetic Study in Ischaemic Stroke Patients treated with tPA", "Genetic Study in Ischemic Stroke Patients treated with recombinant tissue plasminogen activator", "Genetic Study in Ischemic Stroke Patients treated with tPA", "Genetic study in ischaemic stroke patients treated with tPA", "Geno-tPA", "GenoTPA", "Genot-PA", "GenotPA"; rdfs:label "Genetic Study in Ischemic Stroke Patients treated with r-tPA"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15963 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15963; "ischemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8305811/fullTextXML"; rdfs:comment "The participants included in the discovery cohort were part of the Genetic Study in Ischemic Stroke Patients treated with recombinant tissue plasminogen activator (r-tPA) (GenoTPA) [9], Genetic contribution to Functional Outcome and Disability after Stroke (GODS) [13], the Genotyping Recurrence Risk of Stroke (GRECOS) [14], and Genetics of Early Neurological Instability After Ischemic Stroke (GENISIS) [15] studies." . _:38912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11103592/"; rdfs:comment "GenoTPA is a multicenter GWAS of European-ancestry patients with IS admitted to the emergency room at Spanish hospitals and treated with r-tPA alone (N = 2045)." . _:38922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34300314"; "RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis."; "PMID:34300314", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8305811/fullTextXML"; rdfs:comment "The participants included in the discovery cohort were part of the Genetic Study in Ischemic Stroke Patients treated with recombinant tissue plasminogen activator (r-tPA) (GenoTPA) [9], Genetic contribution to Functional Outcome and Disability after Stroke (GODS) [13], the Genotyping Recurrence Risk of Stroke (GRECOS) [14], and Genetics of Early Neurological Instability After Ischemic Stroke (GENISIS) [15] studies." . _:38932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre Spanish study of patients of European ancestry with acute ischaemic stroke, admitted to the emergency rooms of Vall d'Hebron Hospital in Barcelona and other Spanish hospitals and treated with recombinant tissue plasminogen activator (r-tPA), set up to find genetic variants associated with haemorrhagic transformation and death after thrombolysis."; "PMID:23280790", "PMID:28411264", "PMID:34300314", "PMID:38103737"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 844; "GenoTPA replication cohort B in the 2017 GRECOS validation"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5473776/"; rdfs:comment "Replication cohort B (n = 844) and C (n = 461) were recruited at Vall d’Hebron Hospital and 5 more Spanish hospitals as a part of GenotPA project between November 2000–May 2005 (14)." . _:38952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Geno-tPA"; . _:38962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenoTPA"; . _:38972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genot-PA"; . _:38982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenotPA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15973; , ; "PMID:20453842"; "A prospective collection of Dutch patients with rheumatoid arthritis meeting the 1987 American College of Rheumatology criteria, recruited from the outpatient rheumatology clinics of the VU University Medical Center, the Jan van Breemen Institute and the Academic Medical Center/University of Amsterdam in the Amsterdam region of the Netherlands, together with healthy blood-donor controls from the same region, which the Genetics Network Rheumatology Amsterdam contributed to genetic studies of rheumatoid arthritis susceptibility and of response to anti-TNF therapy."; 519; 1155; "GENRA"; rdfs:label "Genetics Network Rheumatology Amsterdam"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15973 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15973; "rheumatoid arthritis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.479/MediaObjects/41588_2009_BFng479_MOESM310_ESM.pdf"; rdfs:comment "Cases were recruited from the outpatient rheumatology clinics of the VU university medical center, the Jan van Breemen institute, and the AMC/University of Amsterdam, all situated in the Amsterdam region in the Netherlands. All cases had RA consistent with 1987 ACR criteria, and only those patients that were CCP positive were used in this study." . _:389a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.479/MediaObjects/41588_2009_BFng479_MOESM310_ESM.pdf"; rdfs:comment "Cases were recruited from the outpatient rheumatology clinics of the VU university medical center, the Jan van Breemen institute, and the AMC/University of Amsterdam, all situated in the Amsterdam region in the Netherlands." . _:389b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20453842"; "Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci."; "PMID:20453842", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4243840/unicode"; rdfs:comment "(3) CCP positive Dutch cases and controls collected from the greater Amsterdam region (GENRA)" . _:389c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective collection of Dutch patients with rheumatoid arthritis meeting the 1987 American College of Rheumatology criteria, recruited from the outpatient rheumatology clinics of the VU University Medical Center, the Jan van Breemen Institute and the Academic Medical Center/University of Amsterdam in the Amsterdam region of the Netherlands, together with healthy blood-donor controls from the same region, which the Genetics Network Rheumatology Amsterdam contributed to genetic studies of rheumatoid arthritis susceptibility and of response to anti-TNF therapy."; "PMID:19898481", "PMID:20453842", "PMID:23555300"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:389d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 519; "anti-CCP-positive rheumatoid arthritis cases and geographically matched controls genotyped in the replication stage of the 2010 RA GWAS meta-analysis (analysed subset), 2010 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4243840/"; rdfs:comment "Genetics Network Rheumatology Amsterdam (GENRA) GENRA Amsterdam, The Netherlands 100% CCP+ 519 1155 Sequenom iPlex Geographically matched" . _:389e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1155; "anti-CCP-positive rheumatoid arthritis cases and geographically matched controls genotyped in the replication stage of the 2010 RA GWAS meta-analysis (analysed subset), 2010 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4243840/"; rdfs:comment "Genetics Network Rheumatology Amsterdam (GENRA) GENRA Amsterdam, The Netherlands 100% CCP+ 519 1155 Sequenom iPlex Geographically matched" . _:389f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENRA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15981; , ; ; "PGS000138", "PMID:12707949"; "A collaborative study run at six sites in the United States with NIMH support that recruited people with recurrent DSM-IV major depressive disorder beginning before age 31 and a parent or sibling with recurrent major depression beginning before age 41, as a sample for molecular genetic studies of depression whose biological materials and clinical data are made available through the NIMH repository. Its first phase (GenRED I) recruited families with affected sibling pairs, with their parents and some unaffected siblings, for linkage studies, and its second (GenRED II) further probands for association studies."; 1110; "GenRED", "GenRED project", "Genetics of Recurrent Early-Onset major Depression", "Genetics of Recurrent Early-onset Depression"; ; rdfs:label "Genetics of Recurrent Early-Onset Depression"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15981 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15981; "recurrent early-onset major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12707949+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This is a study of a large sample of families with recurrent major depressive disorder (DSM-IV) beginning by the age 30 in probands or 40 in relatives." . _:38a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12953334/fullTextXML"; rdfs:comment "Probands were recruited from 6 major U.S. sites" . _:38a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000138"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276" . _:38a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12707949"; "Genetics of recurrent early-onset depression (GenRED): design and preliminary clinical characteristics of a repository sample for genetic linkage studies."; "PMID:12707949", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12707949+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This is an initial report on a six-site collaborative project, Genetics of Recurrent Early-Onset Depression (GenRED)." . _:38a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative study run at six sites in the United States with NIMH support that recruited people with recurrent DSM-IV major depressive disorder beginning before age 31 and a parent or sibling with recurrent major depression beginning before age 41, as a sample for molecular genetic studies of depression whose biological materials and clinical data are made available through the NIMH repository. Its first phase (GenRED I) recruited families with affected sibling pairs, with their parents and some unaffected siblings, for linkage studies, and its second (GenRED II) further probands for association studies."; "PMID:12707949", "PMID:20125088", "PMID:40285827"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1110; "MDD cases recruited by GenRED I (655) and GenRED II (455) for whom genome-wide genotyping was attempted; relatives not counted"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6486400/"; rdfs:comment "Genotyping was attempted for 1,110 MDD cases (655 recruited by GenRED I and 455 by GenRED II)." . _:38a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenRED"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15989; , , ; ; "PGS004921", "PMID:26343387"; "A Korean case-control study of coronary artery disease whose cases are patients with angiographically confirmed coronary artery disease (myocardial infarction, stable or unstable angina) from three teaching hospitals in Seoul (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine), and whose controls come from the Health Examinees (HEXA) population cohort of the Korean Genome Epidemiology Study."; 2099; 2690; "GENRIC", "GenRIC", "GenRIC study", "Genomics Research in Cardiovascular disease", "Korean GenRIC"; ; rdfs:label "Genomics Research in Cardiovascular Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15989 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15989; "coronary artery disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Subjects of GenRIC (Genomics Research in Cardiovascular Disease) study is composed of 2,099 CAD patients from three teaching hospitals (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine) and 2,690 controls from HEXA (Health Examinee) which is one of the KoGES (Korean Genome Epidemiology Study) population based cohorts that were initiated in 2001 aiming to identify genetic risk factors of complex diseases." . _:38a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "The Genomics Research in Cardiovascular disease (GenRIC) is an East Asian study were participants were recruited in Seoul, South Korea." . _:38a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004921"; "Sexual Differences in Genetic Predisposition of Coronary Artery Disease."; "PMID:33332181" . _:38aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26343387"; "A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease."; "PMID:26343387", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Subjects of GenRIC (Genomics Research in Cardiovascular Disease) study is composed of 2,099 CAD patients from three teaching hospitals (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine) and 2,690 controls from HEXA (Health Examinee) which is one of the KoGES (Korean Genome Epidemiology Study) population based cohorts that were initiated in 2001 aiming to identify genetic risk factors of complex diseases." . _:38ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Korean case-control study of coronary artery disease whose cases are patients with angiographically confirmed coronary artery disease (myocardial infarction, stable or unstable angina) from three teaching hospitals in Seoul (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine), and whose controls come from the Health Examinees (HEXA) population cohort of the Korean Genome Epidemiology Study."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2099; "GenRIC angiographically confirmed CAD cases and HEXA-derived controls in the study profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Subjects of GenRIC (Genomics Research in Cardiovascular Disease) study is composed of 2,099 CAD patients from three teaching hospitals (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine) and 2,690 controls from HEXA (Health Examinee) which is one of the KoGES (Korean Genome Epidemiology Study) population based cohorts that were initiated in 2001 aiming to identify genetic risk factors of complex diseases." . _:38ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2690; "GenRIC angiographically confirmed CAD cases and HEXA-derived controls in the study profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Subjects of GenRIC (Genomics Research in Cardiovascular Disease) study is composed of 2,099 CAD patients from three teaching hospitals (Samsung Medical Center, Seoul National University Hospital and Yonsei University College of Medicine) and 2,690 controls from HEXA (Health Examinee) which is one of the KoGES (Korean Genome Epidemiology Study) population based cohorts that were initiated in 2001 aiming to identify genetic risk factors of complex diseases." . _:38ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENRIC"; . _:38af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenRIC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. GENYO is a research centre in Spain, one of the recruiting institutions of the lupus association study the PGS Catalog records the id in (PMID:24163247), not a named sample. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete GENYO"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Georgetown is a place and a university: the PGS Catalog cohort id Georgetown is the CIMBA study site at Georgetown University, an institution, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Georgetown"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid15999; , ; , ; "PGS000350", "PMID:22570617"; "A clinic-based case-control study of primary open-angle glaucoma, begun at the Massachusetts Eye and Ear Infirmary in 1996 with National Eye Institute funding to find genetic loci for the disease, whose cases came mainly from the infirmary's Glaucoma Service and whose controls were mostly patients attending its comprehensive ophthalmology service for routine eye examinations or spouses of patients, with others found at regional glaucoma screenings in Massachusetts."; 485; 344; 829; "GEP", "Genetic Etiologies of POAG", "Genetic Etiologies of Primary Open-Angle Glaucoma", "Genetic Etiologies of Primary-Open angle Glaucoma", "Genetic Etiology Primary Open-Angle Glaucoma", "MEEI", "Massachusetts Eye and Ear Infirmary", "Massachusetts Eye and Ear Infirmary case control group", "Massachussetts Eye and Ear Infirmary"; ; rdfs:label "Genetic Etiologies of Primary-Open angle Glaucoma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid15999 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid15999; "primary open-angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3712669/fullTextXML"; rdfs:comment "The GLAUGEN study contains POAG cases and controls derived from the Genetic Etiologies of Primary Open-Angle Glaucoma (GEP) study, the Nurses’ Health Study (NHS), and the Health Professionals Follow-up Study (HPFS). The GEP is a clinical case-control study from Massachusetts Eye and Ear Infirmary while the NHS and HPFS contain cases and controls nested within population-based cohorts at risk for POAG." . _:38b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "All cases and controls for both studies were residents of the continental United States and were of mainly European ancestry, which was confirmed by principal component analysis." . _:38b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:38b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22570617"; "Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma."; "PMID:22570617", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "The GEP is a clinic-based case-control set, and the NHS and HPFS are case-control sets nested within population-based studies." . _:38b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case-control study of primary open-angle glaucoma, begun at the Massachusetts Eye and Ear Infirmary in 1996 with National Eye Institute funding to find genetic loci for the disease, whose cases came mainly from the infirmary's Glaucoma Service and whose controls were mostly patients attending its comprehensive ophthalmology service for routine eye examinations or spouses of patients, with others found at regional glaucoma screenings in Massachusetts."; "PMID:22570617", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000308.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 485; "MEEI (GEP) participants genotyped in GLAUGEN and analysed in the NEIGHBORHOOD meta-analysis (485 POAG cases, 344 controls), 2016 report"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3482/MediaObjects/41588_2016_BFng3482_MOESM79_ESM.pdf"; rdfs:comment "All individuals had genotyping call rate >99%, thus 485 POAG cases and 344 controls were analyzed at 495,160 SNPs." . _:38b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 344; "MEEI (GEP) participants genotyped in GLAUGEN and analysed in the NEIGHBORHOOD meta-analysis (485 POAG cases, 344 controls), 2016 report"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3482/MediaObjects/41588_2016_BFng3482_MOESM79_ESM.pdf"; rdfs:comment "All individuals had genotyping call rate >99%, thus 485 POAG cases and 344 controls were analyzed at 495,160 SNPs." . _:38b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 829; "MEEI (GEP) participants genotyped in GLAUGEN and analysed in the NEIGHBORHOOD meta-analysis (485 POAG cases, 344 controls), 2016 report"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3482/MediaObjects/41588_2016_BFng3482_MOESM79_ESM.pdf"; rdfs:comment "A total of 829 samples that were previously collected and genotyped as part of the GLAUGEN study on the Illumina 660W_Quad_v1 array were included in this analysis (Wiggs et al., 2011)." . _:38b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEP"; . _:38b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEEI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16010, _:genid-371333f489424440b12a13b9d98ced822608-genid16012; , ; ; "PGS000344", "PMID:28715532"; "A multicentre, randomised, open-label phase II neoadjuvant trial run in Germany by the German Breast Group in patients with triple-negative or HER2-positive early breast cancer, which tested whether adding carboplatin to anthracycline- and taxane-based chemotherapy (given with trastuzumab and lapatinib for HER2-positive and bevacizumab for triple-negative disease) increases the rate of pathological complete response."; "GBG 66", "GEPARSIXTO", "GEPARSIXTO Trial", "GEPARSIXTO study", "GeparSixto", "GeparSixto study"; ; rdfs:label "GeparSixto trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16010 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16012 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16010; "triple-negative breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24794243+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients with previously untreated, non-metastatic, stage II-III, triple-negative breast cancer and HER2-positive breast cancer were enrolled." . _:38bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16012; "HER2-positive breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24794243+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients with previously untreated, non-metastatic, stage II-III, triple-negative breast cancer and HER2-positive breast cancer were enrolled." . _:38bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "GeparSixto Randomized phase II trial investigating the addition of carboplatin to neoadjuvant therapy for triple-negative and HER2-positive early breast cancer109 Multicenter, prospective, randomized, open-label phase II study Germany" . _:38bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:38be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28715532"; "Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial."; "PMID:28715532", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28715532+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GeparSixto trial provided evidence that the addition of neoadjuvant carboplatin to a regimen consisting of anthracycline, taxane, and bevacizumab increases pathological complete response (pCR) rates in patients with triple-negative breast cancer (TNBC)." . _:38bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, open-label phase II neoadjuvant trial run in Germany by the German Breast Group in patients with triple-negative or HER2-positive early breast cancer, which tested whether adding carboplatin to anthracycline- and taxane-based chemotherapy (given with trastuzumab and lapatinib for HER2-positive and bevacizumab for triple-negative disease) increases the rate of pathological complete response."; "PMID:25534375", "PMID:27611952", "PMID:28715532", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEPARSIXTO"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. German BP sample is how two 2012 papers name the Bonn/Mannheim bipolar disorder GWAS sample (PMID:22384057, PMID:23092984), which COHO holds as the BOMA-Bipolar Study. Replaced by COHO:0001543 (BOMA-Bipolar Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete German BP sample"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16019; , ; "PMID:19198610"; "A family study of asthma in Germany whose families have at least two children with confirmed clinical asthma, ascertained at multiple centres and phenotyped by trained staff to a common protocol for the German Asthma Genetics Group; its families were used for genome-wide linkage scans of asthma and later as a replication sample in genetic association studies of asthma."; 867; "German sib-pair study", "German_sib-pair"; rdfs:label "German Affected-Sib-Pair Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16019 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16019; "asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.323/MediaObjects/41588_2009_BFng323_MOESM13_ESM.pdf"; rdfs:comment "The German sib-pair study consisted of two hundred and one families, consisting of at least two children with confirmed clinical asthma." . _:38c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19198610"; "Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction."; "PMID:19198610", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.323/MediaObjects/41588_2009_BFng323_MOESM13_ESM.pdf"; rdfs:comment "The German sib-pair study consisted of two hundred and one families, consisting of at least two children with confirmed clinical asthma." . _:38c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of asthma in Germany whose families have at least two children with confirmed clinical asthma, ascertained at multiple centres and phenotyped by trained staff to a common protocol for the German Asthma Genetics Group; its families were used for genome-wide linkage scans of asthma and later as a replication sample in genetic association studies of asthma."; "PMID:10333435", "PMID:11793707", "PMID:15634351", "PMID:19198610"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 867; "members of the 201 families of both recruitment stages, including non-affected siblings"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC548502/fullTextXML"; rdfs:comment "Clinical characteristics of the 201 families (867 participants) that also include non-affected siblings of the core families." . _:38c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "German_sib-pair"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16025, _:genid-371333f489424440b12a13b9d98ced822608-genid16027; , ; ; "PGS000344", "PMID:32424353"; "A population-based case-control family study of breast cancer in women diagnosed before age 50 in Germany, whose cases were all incident breast cancers diagnosed in 1992–1995 in two regions, Rhein-Neckar-Odenwald and Freiburg, identified by surveying the clinics serving those regions, and whose controls were residents of the study regions selected at random from population registries and matched to cases by age and region."; 706; 1381; "GESBC", "Genetic Epidemiologic Study of Breast Cancer by Age 50"; ; rdfs:label "Genetic Epidemiology Study of Breast Cancer by Age 50"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16025 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16027 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16025; "in-situ breast cancer"; "https://link.springer.com/content/pdf/10.1023/A%3A1008907901087.pdf"; rdfs:comment "We attempted to recruit all women with ages up to 50 years who were diagnosed as having either in-situ or invasive breast cancer between 1 January 1992 and 31 December 1995 in the ``Rhein-Neckar-Odenwald'' region and between 1 January 1993 and 31 December 1995 in the ``Freiburg'' region." . _:38c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16027; "breast cancer"; "https://link.springer.com/content/pdf/10.1023/A%3A1008907901087.pdf"; rdfs:comment "We attempted to recruit all women with ages up to 50 years who were diagnosed as having either in-situ or invasive breast cancer between 1 January 1992 and 31 December 1995 in the ``Rhein-Neckar-Odenwald'' region and between 1 January 1993 and 31 December 1995 in the ``Freiburg'' region." . _:38c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "GESBC Genetic Epidemiology Study of Breast Cancer by Age 50 21 Germany All incident cases diagnosed <50 years of age in 1992-5 in two regions: Rhein-Neckar-Odenwald and Freiburg, by surveying the 38 clinics serving these regions Selected from random lists of residents of the study regions supplied by population registries; two controls were selected for each case, matched by age and study region. Recruitment was carried out 1992-1998." . _:38c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:38ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:38cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control family study of breast cancer in women diagnosed before age 50 in Germany, whose cases were all incident breast cancers diagnosed in 1992–1995 in two regions, Rhein-Neckar-Odenwald and Freiburg, identified by surveying the clinics serving those regions, and whose controls were residents of the study regions selected at random from population registries and matched to cases by age and region."; "PMID:11065005", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 706; "GESBC questionnaire-completing cases and participating population controls, 1992-1998 recruitment"; "https://link.springer.com/content/pdf/10.1023/A%3A1008907901087.pdf"; rdfs:comment "Of these living case subjects, 706 (70.2%) completed the study questionnaire." . _:38cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1381; "GESBC questionnaire-completing cases and participating population controls, 1992-1998 recruitment"; "https://link.springer.com/content/pdf/10.1023/A%3A1008907901087.pdf"; rdfs:comment "Of the 2257 eligible population controls, 218 (9.7%) did not respond, 658 (29.1%) refused to take part, and 1381 (61.2%) participated." . _:38ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GESBC"; . a owl:NamedIndividual, ; , ; "PGS005218", "PMID:41238958"; "A general population study of residents aged over 20 of Næstved municipality in Zealand, Denmark, recruited in 2010–2013, whose participants underwent a health examination, completed questionnaires and gave blood samples at baseline, with linkage to public registers for follow-up, established to facilitate epidemiological and genetic research."; 21205; "GESUS"; ; rdfs:label "Danish General Suburban Population Study"@en . _:38cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02410-z/MediaObjects/41588_2025_2410_MOESM1_ESM.pdf"; rdfs:comment "The Danish General Suburban Population Study was a cross-sectional study of subjects aged > 20 years living in Næstved municipality, Denmark, which recruited 21,205 adults between 2010 and 2013." . _:38d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005218"; "Genome-wide association study and polygenic risk prediction of hypothyroidism."; "PMID:41238958" . _:38d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41238958"; "Genome-wide association study and polygenic risk prediction of hypothyroidism."; "PMID:41238958", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12695664/fullTextXML"; rdfs:comment "The PRS was evaluated in the UKB and the Danish General Suburban Population Study (GESUS; Methods)." . _:38d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A general population study of residents aged over 20 of Næstved municipality in Zealand, Denmark, recruited in 2010–2013, whose participants underwent a health examination, completed questionnaires and gave blood samples at baseline, with linkage to public registers for follow-up, established to facilitate epidemiological and genetic research."; "PMID:24001461", "PMID:24476587", "PMID:42308041", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02410-z/MediaObjects/41588_2025_2410_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 21205; "adults aged over 20 recruited in Næstved municipality between 2010 and 2013 (2010-2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-025-02410-z/MediaObjects/41588_2025_2410_MOESM1_ESM.pdf"; rdfs:comment "The Danish General Suburban Population Study was a cross-sectional study of subjects aged > 20 years living in Næstved municipality, Denmark, which recruited 21,205 adults between 2010 and 2013." . _:38d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GESUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16042, _:genid-371333f489424440b12a13b9d98ced822608-genid16044; , ; ; "PGS000004", "PMID:29058716"; "A study of carriers of BRCA1 or BRCA2 pathogenic variants based at Ghent University Hospital, Belgium, which contributes its carriers' genotype and phenotype data to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of breast, ovarian and prostate cancer risk in carriers."; 121; 69; "G-FaST", "GFAST"; ; rdfs:label "G-FAST"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16044 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16042; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:38d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16044; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:38d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "G-FAST | Ghent University Hospital | BELGIUM | 69 | 121 | | 91 | 42" . _:38d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:38d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "G-FAST | Ghent University Hospital | BELGIUM | 69 | 121 | | 91 | 42" . _:38da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of carriers of BRCA1 or BRCA2 pathogenic variants based at Ghent University Hospital, Belgium, which contributes its carriers' genotype and phenotype data to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of breast, ovarian and prostate cancer risk in carriers."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 121; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "G-FAST | Ghent University Hospital | BELGIUM | 69 | 121 | | 91 | 42" . _:38dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 69; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "G-FAST | Ghent University Hospital | BELGIUM | 69 | 121 | | 91 | 42" . _:38dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G-FaST"; . _:38de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GFAST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16054; , , , , ; , ; "PGS005200", "PMID:29892015"; "A collection of individuals with atrial fibrillation and age- and sex-matched controls, assembled at the University Medical Center Groningen, the Netherlands, as a genotype and phenotype repository for genetic studies of atrial fibrillation, whose cases come from three hospital-based atrial fibrillation cohorts (the AF-Risk, Young-AF and Biomarker-AF studies) and whose controls come from the GIPS-III trial and the PREVEND community cohort of Groningen."; 1108; 2207; "GGAF"; ; rdfs:label "Groningen Genetics of Atrial Fibrillation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16054; "atrial fibrillation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The GGAF cohort (n=2207) is a genotype and phenotype repository of individuals with AF and age- and sex-matched controls from 5 different sources." . _:38e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7891778/fullTextXML"; rdfs:comment "Three hospital-based, prospective, AF registries (AF-RISK study, Biomarker-AF study and Young-AF study) recruited in the University Medical Center Groningen and two age- and sex-matched reference cohorts (Prevention of Renal and Vascular End-stage Disease (PREVEND) study and the Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction (GIPS) III) are enclosed in the GGAF cohort (n = 2207)." . _:38e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7891778/fullTextXML"; rdfs:comment "Three hospital-based, prospective, AF registries (AF-RISK study, Biomarker-AF study and Young-AF study) recruited in the University Medical Center Groningen and two age- and sex-matched reference cohorts (Prevention of Renal and Vascular End-stage Disease (PREVEND) study and the Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction (GIPS) III) are enclosed in the GGAF cohort (n = 2207)." . _:38e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7891778/fullTextXML"; rdfs:comment "Three hospital-based, prospective, AF registries (AF-RISK study, Biomarker-AF study and Young-AF study) recruited in the University Medical Center Groningen and two age- and sex-matched reference cohorts (Prevention of Renal and Vascular End-stage Disease (PREVEND) study and the Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction (GIPS) III) are enclosed in the GGAF cohort (n = 2207)." . _:38e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7891778/fullTextXML"; rdfs:comment "Three hospital-based, prospective, AF registries (AF-RISK study, Biomarker-AF study and Young-AF study) recruited in the University Medical Center Groningen and two age- and sex-matched reference cohorts (Prevention of Renal and Vascular End-stage Disease (PREVEND) study and the Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction (GIPS) III) are enclosed in the GGAF cohort (n = 2207)." . _:38e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7891778/fullTextXML"; rdfs:comment "Three hospital-based, prospective, AF registries (AF-RISK study, Biomarker-AF study and Young-AF study) recruited in the University Medical Center Groningen and two age- and sex-matched reference cohorts (Prevention of Renal and Vascular End-stage Disease (PREVEND) study and the Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction (GIPS) III) are enclosed in the GGAF cohort (n = 2207)." . _:38e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The PREVEND cohort study (www.prevend.org) is a community-based cohort study including 8592 inhabitants of the city of Groningen, The Netherlands." . _:38e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:38e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The GGAF cohort (n=2207) is a genotype and phenotype repository of individuals with AF and age- and sex-matched controls from 5 different sources." . _:38e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of individuals with atrial fibrillation and age- and sex-matched controls, assembled at the University Medical Center Groningen, the Netherlands, as a genotype and phenotype repository for genetic studies of atrial fibrillation, whose cases come from three hospital-based atrial fibrillation cohorts (the AF-Risk, Young-AF and Biomarker-AF studies) and whose controls come from the GIPS-III trial and the PREVEND community cohort of Groningen."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1108; "GGAF genotype and phenotype repository in the 2018 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "Individuals with AF (n=1108) were included in 3 registry cohorts at the University Medical Center (www.atrialfibrillationresearch.nl), and Maastricht University Medical Center (AF-Risk n=6)." . _:38ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2207; "GGAF genotype and phenotype repository in the 2018 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The GGAF cohort (n=2207) is a genotype and phenotype repository of individuals with AF and age- and sex-matched controls from 5 different sources." . _:38eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GGAF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16068, _:genid-371333f489424440b12a13b9d98ced822608-genid16070; , ; "PMID:20693352"; "A cross-sectional health and nutrition study of urban Greek adults aged 60 years and over, a randomly selected group of members of the Centers of Open Protection for the Elderly in the Athens region recruited between 2004 and 2008, assessed with standardized anthropometric, biochemical and clinical procedures and extensive questionnaires to investigate the interactions among socioeconomic, lifestyle, dietary, psychological and biochemical factors that determine the health status of elderly Greeks."; 782; "GHRAS"; rdfs:label "Greek Health Randomized Aging Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16068 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16070 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16068; "lifestyle factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18376349+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The \"GHRAS\" study is aimed at investigating the interactions among socioeconomic, lifestyle, dietary, psychological, and biochemical factors determining the health status of elderly Greeks." . _:38ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16070; "dietary factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18376349+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The \"GHRAS\" study is aimed at investigating the interactions among socioeconomic, lifestyle, dietary, psychological, and biochemical factors determining the health status of elderly Greeks." . _:38ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18376349+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 782 elderly (>60 years of age) Greeks were randomly recruited in Athens." . _:38ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20693352"; "Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies."; "PMID:20693352", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2992213/supplementaryFiles"; rdfs:comment "GHRAS is a cross-sectional health and nutrition study conducted in elderly (≥60 y) urban Greek adults." . _:38f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional health and nutrition study of urban Greek adults aged 60 years and over, a randomly selected group of members of the Centers of Open Protection for the Elderly in the Athens region recruited between 2004 and 2008, assessed with standardized anthropometric, biochemical and clinical procedures and extensive questionnaires to investigate the interactions among socioeconomic, lifestyle, dietary, psychological and biochemical factors that determine the health status of elderly Greeks."; "PMID:18376349", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2992213/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 782; "elderly Greeks (over 60) randomly recruited in Athens"; "PMID:18376349"; rdfs:comment "A total of 782 elderly (>60 years of age) Greeks were randomly recruited in Athens." . _:38f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHRAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16077; , , ; , , , , , ; "PMID:24149102"; "A clinical trials group, whose Trial Coordination Center belongs to Department I of Internal Medicine of the University of Cologne, Germany, that runs controlled, prospective, randomized trials for all stages of Hodgkin lymphoma, recruiting patients from across Europe, to optimise diagnostics, therapy and follow-up care; genetic studies use Hodgkin lymphoma patients ascertained through it."; 12202; "GHSG"; rdfs:label "German Hodgkin Study Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16077 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16077; "Hodgkin lymphoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6746042/"; rdfs:comment "Among 12,202 European HL patients observed for 94,972 person-years, 19 suicides (17 males and 2 females) were identified resulting in a SMR 1.63 (95% CI: 1.01–2.50, p = 0.046)." . _:38f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3553532/"; rdfs:comment "From 1998 to 2002, the German Hodgkin Study Group (GHSG) conducted the 4th generation of clinical trials for the treatment of HL (HD10–12) involving a total of 4610 patients." . _:38f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3553532/"; rdfs:comment "From 1998 to 2002, the German Hodgkin Study Group (GHSG) conducted the 4th generation of clinical trials for the treatment of HL (HD10–12) involving a total of 4610 patients." . _:38f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3553532/"; rdfs:comment "From 1998 to 2002, the German Hodgkin Study Group (GHSG) conducted the 4th generation of clinical trials for the treatment of HL (HD10–12) involving a total of 4610 patients." . _:38f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6746042/"; rdfs:comment "The GHSG HD7-HD15 studies accrued patients from Germany, Switzerland, the Netherlands, the Czech Republic, and Austria between 1993 and 2009 and were analyzed to identify those patients with Hodgkin Lymphoma whose cause of death was suicide." . _:38f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24149102"; "Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma."; "PMID:24149102", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5053363/fullTextXML"; rdfs:comment "In the primary scan (German-GWAS), 1,001 cHL cases, ascertained by the German Hodgkin Study Group during 1998–2007, were genotyped using the Illumina Human OmniExpress-12 v1.0 arrays." . _:38f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical trials group, whose Trial Coordination Center belongs to Department I of Internal Medicine of the University of Cologne, Germany, that runs controlled, prospective, randomized trials for all stages of Hodgkin lymphoma, recruiting patients from across Europe, to optimise diagnostics, therapy and follow-up care; genetic studies use Hodgkin lymphoma patients ascertained through it."; "PMID:24149102", "https://en.ghsg.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:38fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12202; "European patients in the pooled GHSG HD7–HD15 trial follow-up, accrued 1993–2009; not the all-time GHSG total"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6746042/"; rdfs:comment "Among 12,202 European HL patients observed for 94,972 person-years, 19 suicides (17 males and 2 females) were identified resulting in a SMR 1.63 (95% CI: 1.01–2.50, p = 0.046)." . _:38fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GHSG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16087, _:genid-371333f489424440b12a13b9d98ced822608-genid16089; , , , , , , , ; ; "PGS000781", "PMID:28346443"; "A multisite case-control study of glioma run by the Genetic Epidemiology of Glioma International Consortium, which in 2010–2013 recruited, under a common protocol and questionnaire with blood sample collection, adults aged 18–80 with newly diagnosed, histologically confirmed glioma and controls (visitors accompanying cancer patients, clinic-based or population-based controls, depending on the site) at 14 sites in the United States, Denmark, Israel, Sweden and the United Kingdom, to study environmental and genetic risk factors for glioma."; 4545; 4173; "GICC", "Glioma International Case Control Consortium", "Glioma International Case Control study"; ; rdfs:label "Glioma International Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16087 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16089 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:38fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16087; "glioma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "Diagnosis of histologically confirmed, supratentorial, intracranial glioma" . _:38fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16089; "environmental exposures"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "With 4,545 cases and 4,173 controls, the GICC Study confers the opportunity to evaluate both environmental exposures and genetic variation while accounting for tumor subtype." . _:38fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4874516/unicode"; rdfs:comment "Briefly, the GICC is an international consortium with 14 recruitment sites across five countries: Brigham and Women’s Hospital (MA, USA), Case Western Reserve University (Ohio, USA), Columbia University (NY, USA), Danish Cancer Society Research Centre (Copenhagen, Denmark), The Gertner Institute (Tel Hashomer, Israel)" . _:38ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4874516/unicode"; rdfs:comment "Umeå University (Umeå, Sweden), University of California, San Francisco (CA, USA), University of Southern California (CA, USA) and The Institute of Cancer Research (London, United Kingdom)." . _:39002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000781"; "A Weighted Genetic Risk Score of Adult Glioma Susceptibility Loci Associated with Pediatric Brain Tumor Risk."; "PMID:31792337" . _:39012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346443"; "Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors."; "PMID:28346443", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5558246/unicode"; rdfs:comment "We analyzed GWAS SNP data that passed quality control for 12,496 cases (6,191 classified as GBM and 5,819 classified as non-GBM tumors) and 18,190 controls from eight studies with individuals of European ancestry, a new GWAS of 4,572 cases and 3,286 controls performed by the Glioma International Case Control Consortium (GICC) (Supplementary Table 1), a new GWAS of 1,591 cases and 804 controls from the University of California, San Francisco (UCSF)-Mayo, and six previously reported GWAS totaling 6,405 cases and 14,100 controls (Supplementary Table 2)." . _:39022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multisite case-control study of glioma run by the Genetic Epidemiology of Glioma International Consortium, which in 2010–2013 recruited, under a common protocol and questionnaire with blood sample collection, adults aged 18–80 with newly diagnosed, histologically confirmed glioma and controls (visitors accompanying cancer patients, clinic-based or population-based controls, depending on the site) at 14 sites in the United States, Denmark, Israel, Sweden and the United Kingdom, to study environmental and genetic risk factors for glioma."; "PMID:26656478", "PMID:30482874", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4874516/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4545; "Original GICC case-control study recruited 2010–2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "With 4,545 cases and 4,173 controls, the GICC Study confers the opportunity to evaluate both environmental exposures and genetic variation while accounting for tumor subtype." . _:39042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4173; "Original GICC case-control study recruited 2010–2013"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "With 4,545 cases and 4,173 controls, the GICC Study confers the opportunity to evaluate both environmental exposures and genetic variation while accounting for tumor subtype." . _:39052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GICC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16099; , ; "PGS002235", "PMID:23742623"; "An affected-sibling family study of venous thromboembolism based at Leiden University Medical Center, the Netherlands, which recruited small thrombophilic families in which at least two siblings had objectively confirmed venous thromboembolism at a young age (before 45), to identify new genetic susceptibility loci for venous thromboembolism."; 438; "GIFT"; ; rdfs:label "Genetics In Familial Thrombosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16099 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16099; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23742623+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the GIFT study, 201 families were recruited consisting of 438 siblings with an objectively confirmed VTE at a young age." . _:39072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5695603/fullTextXML"; rdfs:comment "The GIFT and the MEGA studies were approved by the Medical Ethics Committee of the Leiden University Medical Center, Leiden, the Netherlands." . _:39082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002235"; "Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank."; "PMID:34725413" . _:39092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23742623"; "Genome-wide linkage scan in affected sibling pairs identifies novel susceptibility region for venous thromboembolism: Genetics In Familial Thrombosis study."; "PMID:23742623", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23742623+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We aimed to identify novel thrombosis susceptibility alleles in a large panel of small thrombophilic families: the Genetics In Familial Thrombosis (GIFT) study." . _:390a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An affected-sibling family study of venous thromboembolism based at Leiden University Medical Center, the Netherlands, which recruited small thrombophilic families in which at least two siblings had objectively confirmed venous thromboembolism at a young age (before 45), to identify new genetic susceptibility loci for venous thromboembolism."; "PMID:23742623", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5695603/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:390b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 438; "Affected siblings recruited from 201 GIFT families"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23742623+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the GIFT study, 201 families were recruited consisting of 438 siblings with an objectively confirmed VTE at a young age." . _:390c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIFT"; . a owl:NamedIndividual, ; , ; "PMID:27184339"; "A sample of healthy young adults of European ancestry, established at the Center for Translational Research in Systems Neuroscience and Psychiatry of the University of Göttingen and recruited through advertisements at the University of Göttingen and the University Medical Center Göttingen, excluding people with past or present psychiatric disorders, a family history of psychiatric disorders, recent substance abuse, or neurological or metabolic disease, who are genotyped and undergo brain magnetic resonance imaging, including functional MRI."; 299; "GIG", "Genomic Imaging Goettingen", "Genomic Imaging Gottingen"; rdfs:label "Genomic Imaging Göttingen"@en . _:390d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5026735/"; rdfs:comment "Participants in the Genomic Imaging Goettingen (GIG) study (n=299) were recruited by advertisements in intern online student networks and local newsletters in the Georg-August-University Goettingen and the University Medical Center Goettingen." . _:390e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27184339"; "Investigating the Impact of a Genome-Wide Supported Bipolar Risk Variant of MAD1L1 on the Human Reward System."; "PMID:27184339", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5026735/"; rdfs:comment "Participants in the Genomic Imaging Goettingen (GIG) study (n=299) were recruited by advertisements in intern online student networks and local newsletters in the Georg-August-University Goettingen and the University Medical Center Goettingen." . _:390f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sample of healthy young adults of European ancestry, established at the Center for Translational Research in Systems Neuroscience and Psychiatry of the University of Göttingen and recruited through advertisements at the University of Göttingen and the University Medical Center Göttingen, excluding people with past or present psychiatric disorders, a family history of psychiatric disorders, recent substance abuse, or neurological or metabolic disease, who are genotyped and undergo brain magnetic resonance imaging, including functional MRI."; "PMID:26854805", "PMID:27184339"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 299; "participants recruited into the GIG study (as reported in 2016)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5026735/"; rdfs:comment "Participants in the Genomic Imaging Goettingen (GIG) study (n=299) were recruited by advertisements in intern online student networks and local newsletters in the Georg-August-University Goettingen and the University Medical Center Goettingen." . _:39112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16112; , ; ; "PGS000801", "PMID:21655089"; "An Australian family and twin study of the genetics of myopia and other refractive errors, established in Melbourne in 2004, which recruited probands with myopia and a family history of it (contacted through the database of the Melbourne Excimer Laser Group) together with their family members, and adult twins from Victoria through the Australian Twin Registry, with a detailed eye examination, ocular biometry, questionnaire and blood sample for DNA."; "The acronym GEM also denotes Ginkgo Evaluation of Memory Study (COHO:0000682) and Genetic Epidemiology of Migraine Study (COHO:0001770); this term is Genes in Myopia Study."@en; 1224; "GEM", "GEnes in Myopia (GEM) study", "GIMS", "Genes in Myopia study"; ; rdfs:label "Genes in Myopia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16112 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16112; "myopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16283990+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Genes in Myopia (GEM) Study aims to recruit probands with myopia and their family members to allow genetic analysis of myopia to be undertaken." . _:39132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24265017+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In total, 157 patients with KC were recruited from public and private clinics in Melbourne, Australia, and 673 individuals without KC were identified through the Genes in Myopia study from Australia." . _:39142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000801"; "Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies."; "PMID:31038671" . _:39152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21655089"; "Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer."; "PMID:21655089", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3107194/fullTextXML"; rdfs:comment "The 2,353 controls were derived from Queensland or Melbourne: for the former, the controls came from the Brisbane Twin Nevus Study [16]; for the latter, individuals were participants in the Genes in Myopia study [17]." . _:39162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Australian family and twin study of the genetics of myopia and other refractive errors, established in Melbourne in 2004, which recruited probands with myopia and a family history of it (contacted through the database of the Melbourne Excimer Laser Group) together with their family members, and adult twins from Victoria through the Australian Twin Registry, with a detailed eye examination, ocular biometry, questionnaire and blood sample for DNA."; "PMID:16283990", "PMID:18552384", "PMID:20576483"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1224; "twins examined in the GEM twin study (612 pairs); the probands and relatives of the family study are not counted"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18552384+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 612 twin pairs (1224 twins) aged from 18 to 86 years were examined in the GEM twin study." . _:39182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GEM"; . _:39192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16121; , , ; ; "PMID:23935489"; "A European-African consortium project of the European Commission's Sixth Framework Programme on the genetics and immunology of HIV-1 long-term non-progression, and its French-Italian cohort of untreated, HIV-1-infected Caucasian long-term non-progressors (CD4+ T-cell counts above 500/μL for more than seven years after infection without antiretroviral therapy) drawn from the French asymptomatic long-term cohort, the Italian ELVIS study and the Chelsea and Westminster cohort. The cohort was genotyped genome-wide and compared with seroconverters of the French PRIMO cohort to find host genetic factors of long-term non-progression, and it contributed to the International Collaboration for the Genomics of HIV."; 144; "GISHEAL", "Genetic and Immunological Studies of European and African HIV-1 Long Term Non-Progressors", "Genetic and Immunological Studies of European and African HIV-1+ Long Term Non Progressors", "Genetic and Immunological Studies on HIV+ European and African LTNP"; rdfs:label "Genetic and Immunological Studies of European and African HIV-1+ Long Term Non-Progressors"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16121 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:391a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16121; "HIV-1 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2766982/fullTextXML"; rdfs:comment "Here we performed a GWAS on a cohort of 160 HIV-1 infected Caucasian Long Term Non Progressors (LTNP) from the EC-funded European-African ''GISHEAL'' Consortium in order to explore whether novel genetic factors could account for the LTNP phenotype (i.e. maintenance of CD4 T cell counts >500 cells/μl and good health conditions without therapy)." . _:391b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Genetic and Immunological Studies of European and African HIV-1+ Long Term Non-Progressors (GISHEAL) Study, in France and Italy" . _:391c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23935489"; "Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls."; "PMID:23935489", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Genetic and Immunological Studies of European and African HIV-1+ Long Term Non-Progressors (GISHEAL) Study, in France and Italy" . _:391d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European-African consortium project of the European Commission's Sixth Framework Programme on the genetics and immunology of HIV-1 long-term non-progression, and its French-Italian cohort of untreated, HIV-1-infected Caucasian long-term non-progressors (CD4+ T-cell counts above 500/μL for more than seven years after infection without antiretroviral therapy) drawn from the French asymptomatic long-term cohort, the Italian ELVIS study and the Chelsea and Westminster cohort. The cohort was genotyped genome-wide and compared with seroconverters of the French PRIMO cohort to find host genetic factors of long-term non-progression, and it contributed to the International Collaboration for the Genomics of HIV."; "PMID:23459797", "PMID:23750159", "PMID:23935489", "PMID:28702030", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2766982/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:391e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 144; "HIV-1-infected long-term non-progressors recruited (the genotyped GISHEAL cohort), 2012 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3664380/fullTextXML"; rdfs:comment "Finally, the French-Italian GISHEAL cohort recruited 144 LTNP defined by a CD4+ T-cell count above 500/μL for more than 7 years after HIV infection in the absence of antiretroviral therapy (Figure 3) (Guergnon et al., 2012)." . _:391f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GISHEAL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16128; , ; "PMID:20403154"; "A multicentre Italian randomized trial of the Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto miocardico (GISSI) in which patients surviving a recent (3 months or less) myocardial infarction, with no limits of age and sex, were randomly assigned from October 1993 to September 1995 in a factorial design to supplements of n-3 polyunsaturated fatty acids, vitamin E, both, or none for 3.5 years, with death, non-fatal myocardial infarction and stroke as the combined primary endpoint."; 11324; "GISSI Prevenzione", "GISSI-P", "GISSI-Prevenzione", "GISSI-Prevenzione study", "Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto miocardico (GISSI) -Prevenzione trial"; rdfs:label "GISSI-Prevenzione trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16128 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16128; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10465168+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the effects of these substances as supplements in patients who had myocardial infarction." . _:39212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2871267/fullTextXML"; rdfs:comment "GISSI-P and IGLOO are both multicentre Italian studies approved by the local ethics committees of the participating hospitals (see references 16,17 for the complete list)." . _:39222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20403154"; "Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population."; "PMID:20403154", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2871267/fullTextXML"; rdfs:comment "The other case groups of 600 MI only and 600 MI&T2D were selected at random from the GISSI-Prevenzione study (GISSI-P)" . _:39232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre Italian randomized trial of the Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto miocardico (GISSI) in which patients surviving a recent (3 months or less) myocardial infarction, with no limits of age and sex, were randomly assigned from October 1993 to September 1995 in a factorial design to supplements of n-3 polyunsaturated fatty acids, vitamin E, both, or none for 3.5 years, with death, non-fatal myocardial infarction and stroke as the combined primary endpoint."; "PMID:10465168", "PMID:20403154"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11324; "GISSI-Prevenzione recent-MI patients recruited October 1993-September 1995"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10465168+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From October, 1993, to September, 1995, 11,324 patients" . _:39252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GISSI-P"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16135; , ; "PGS005170", "PMID:29531354"; "A hospital-based collection of patients with ischaemic stroke attending the cerebrovascular service of the Western Infirmary, Glasgow, Scotland, recruited between 1990 and 2004 as part of an ongoing study of genetic and circulating biomarkers in stroke, all with brain imaging and extracranial carotid ultrasound, analysed against shared WTCCC controls from the 1958 Birth Cohort in the MEGASTROKE consortium’s genome-wide association study of stroke."; 599; 599; "GSICSS", "Glasgow", "Glasgow ImmunoChip Study", "Glasgow, Scotland ImmunoChip Study Samples"; ; rdfs:label "Glasgow Stroke Sample"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16135 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16135; "ischemic stroke"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases with ischemic stroke attending the cerebrovascular service of the Western Infirmary, Glasgow, were recruited between 1990 and 2004 as part of an ongoing study of genetic and circulating biomarkers in stroke." . _:39272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases with ischemic stroke attending the cerebrovascular service of the Western Infirmary, Glasgow, were recruited between 1990 and 2004 as part of an ongoing study of genetic and circulating biomarkers in stroke." . _:39282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:39292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29531354"; "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes."; "PMID:29531354", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Cases with ischemic stroke attending the cerebrovascular service of the Western Infirmary, Glasgow, were recruited between 1990 and 2004 as part of an ongoing study of genetic and circulating biomarkers in stroke." . _:392a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based collection of patients with ischaemic stroke attending the cerebrovascular service of the Western Infirmary, Glasgow, Scotland, recruited between 1990 and 2004 as part of an ongoing study of genetic and circulating biomarkers in stroke, all with brain imaging and extracranial carotid ultrasound, analysed against shared WTCCC controls from the 1958 Birth Cohort in the MEGASTROKE consortium’s genome-wide association study of stroke."; "PMID:29531354"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:392b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 599; "ischaemic stroke cases analysed in MEGASTROKE (analysed subset), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Glasgow 599 599 72 105 137 1,775 EUR" . _:392c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 599; "ischaemic stroke cases analysed in MEGASTROKE (analysed subset), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0058-3/MediaObjects/41588_2018_58_MOESM1_ESM.pdf"; rdfs:comment "Glasgow 599 599 72 105 137 1,775 EUR" . _:392d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSICSS"; . _:392e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Glasgow"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16145; , , ; , ; "PGS000350", "PMID:31436842"; "A case-control genome-wide association study of primary open-angle glaucoma in the United States, part of the NIH Gene Environment Association Studies (GENEVA) initiative, which assembled cases and controls from three studies: the clinic-based Genetic Etiologies of Primary Open-Angle Glaucoma project of the Massachusetts Eye and Ear Infirmary, and cases and matched controls from the glaucoma-at-risk cohorts of the Nurses' Health Study and the Health Professionals Follow-up Study, to find genetic loci and gene–environment interactions for the disease."; 976; 1140; "GLAUGEN", "Glaucoma Gene Environment Initiative", "Glaucoma Genes and Environment", "Glaucoma Genes and Environment Study", "Glaucoma Genes and Environment study", "The Glaucoma Genes and Environment Study", "The Primary Open-Angle Glaucoma Genes and Environment (GLAUGEN) Study"; ; rdfs:label "Primary Open-Angle Glaucoma Genes and Environment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16145 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:392f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16145; "primary open-angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3712669/fullTextXML"; rdfs:comment "The GLAUGEN study contains POAG cases and controls derived from the Genetic Etiologies of Primary Open-Angle Glaucoma (GEP) study, the Nurses’ Health Study (NHS), and the Health Professionals Follow-up Study (HPFS)." . _:39302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "The GLAUGEN dataset included 976 cases and 1,140 controls drawn from three different studies: the Genetic Etiologies of Primary-Open angle Glaucoma (GEP), the Nurses' Health Study (NHS) and the Health Professionals Follow-up study (HPFS)." . _:39312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "The GLAUGEN dataset included 976 cases and 1,140 controls drawn from three different studies: the Genetic Etiologies of Primary-Open angle Glaucoma (GEP), the Nurses' Health Study (NHS) and the Health Professionals Follow-up study (HPFS)." . _:39322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "The GLAUGEN dataset included 976 cases and 1,140 controls drawn from three different studies: the Genetic Etiologies of Primary-Open angle Glaucoma (GEP), the Nurses' Health Study (NHS) and the Health Professionals Follow-up study (HPFS)." . _:39332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "All cases and controls for both studies were residents of the continental United States and were of mainly European ancestry, which was confirmed by principal component analysis." . _:39342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:39352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31436842"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31436842+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A cross-sectional study included individuals with POAG and controls from the Glaucoma Genes and Environment (GLAUGEN) study and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) study." . _:39362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genome-wide association study of primary open-angle glaucoma in the United States, part of the NIH Gene Environment Association Studies (GENEVA) initiative, which assembled cases and controls from three studies: the clinic-based Genetic Etiologies of Primary Open-Angle Glaucoma project of the Massachusetts Eye and Ear Infirmary, and cases and matched controls from the glaucoma-at-risk cohorts of the Nurses' Health Study and the Health Professionals Follow-up Study, to find genetic loci and gene–environment interactions for the disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3712669/fullTextXML", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000308.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 976; "POAG cases and controls in the GLAUGEN genome-wide association analysis after data cleaning (its flagship analysis), 2012 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "The GLAUGEN dataset included 976 cases and 1,140 controls drawn from three different studies: the Genetic Etiologies of Primary-Open angle Glaucoma (GEP), the Nurses' Health Study (NHS) and the Health Professionals Follow-up study (HPFS)." . _:39382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1140; "POAG cases and controls in the GLAUGEN genome-wide association analysis after data cleaning (its flagship analysis), 2012 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "The GLAUGEN dataset included 976 cases and 1,140 controls drawn from three different studies: the Genetic Etiologies of Primary-Open angle Glaucoma (GEP), the Nurses' Health Study (NHS) and the Health Professionals Follow-up study (HPFS)." . _:39392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLAUGEN"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-29. P1: GLC is one of six lung-cancer case-control GWAS combined in a TRICL-consortium meta-analysis of a DNA-repair-gene variant; P6: GLC is one of four studies pooled in a gene-set-analysis meta-analysis. No fetched evidence text for P2-P5 to confirm GLC's role there. The Transdisciplinary Research in Cancer of the Lung consortium (TRICL, COHO:0000800), named in P1's title as the framework combining GLC with other studies, is not in this name's candidate list, so memberOf is not asserted; a researcher could add it. Checked 2026-09-25: The draft defined GLC only by the other GWAS it was meta-analysed with and never said who is in it. GLC is a GWAS set drawn from three named studies (PMC5530424: 'We considered the German Lung Cancer study (GLC) with 488 cases and 478 controls, based on the data of participants taken from the following three individual studies: Lung Cancer in the Young (LUCY), a population-based multicentre study run by the Helmholtz Zentrum Munich, and the University Medical Centre of the Georg-August-University in Goettingen.' ... 'A subset of the study participants of these three studies was chosen to form the German Lung Cancer GWAS.'), the other two being the Heidelberg lung cancer case-control study and KORA. Made an aggregation, as for GLAUGEN (E429) and GGAF (E419) in this batch. Its parent TRICL (COHO:0000800), named in P1's title, was not asserted; it is now, with a quote. Members for hasCohort links: LUCY (E650, placeholder COHO:0002020) and KORA (COHO:0000045), quote 'We considered the German Lung Cancer study (GLC) with 488 cases and 478 controls, based on the data of participants taken from the following three individual studies: Lung Cancer in the Young (LUCY), a population-based multicentre study run by the Helmholtz Zentrum Munich, and the University Medical Centre of the Georg-August-University in Goettingen.' and 'Additional controls were provided by Cooperative Health Research in the Augsburg Region (KORA), a population-based genome-wide study carried out by the Helmholtz Zentrum Munich [ 44 ].' (https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5530424/fullTextXML); the Heidelberg lung cancer case-control study is not in COHO. In the 2012 TRICL meta-analysis the same set is called 'HGF Germany' / 'the Helmholtz-Gemeinschaft Deutscher Forschungszentren (HGF) lung cancer GWAS', a name that could be added as a synonym. If the curator prefers such pooled GWAS sets as cohorts, keep the definition and drop the members. Country Germany from the name, as drafted. Quotes from PMC5530424, PMC5342225 and PMC5429754 were read from live Europe PMC fetches. Completed 2026-09-29: Duplicate of COHO:0000165 ('The Helmholtz-Gemeinschaft Deutscher Forschungszentren', HGF, HMGU), whose definition since 2026-09-25 is this same German lung cancer GWAS set. The evidence: the ILCCO table of PMID:28273134 gives 'GLCd 487 480 Germany Population-based case–control (<50 years) HumanHap550K 503 381' with footnote 'German Lung Cancer Study', the same cases, controls, design, platform and SNP count as TRICL 2012's row 'HGF Germanyg 487 480 Germany Population-based case–control (<50 years) 550 K 503 381' (PMID:22899653); both, and PMID:28785300 and PMID:26501144 ('484 Caucasians used as controls in the German Lung Cancer Study', the HMGU controls of PMID:25644374), describe it as LUCY and Heidelberg cases against KORA controls, and Landi 2009 and PMID:26501144 cite the same design paper (Sauter 2008, PMID:18483334) for the HGF GWAS and the German Lung Cancer Study. The PGS Catalog simply follows each paper's name: HGF for PMID:22899653 and 26363033, HMGU for 25644374, GLC for 27288692 and 28604730. All the record's names (GLC, German Lung Cancer Study, Germany Lung Cancer study, German Lung Cancer GWAS, German lung cancer study) are names of that set and can be carried; each was found in the cache (PMID:27288692, 28785300, 26501144, 28273134). The record's example and TRICL membership quotes are verbatim; the TRICL membership is given in links for COHO:0000165 (it has only ILCCO now). Optional further synonyms for COHO:0000165, seen verbatim: 'HGF Germany' (PMID:22899653) and 'Helmholtz-Gemeinschaft Deutscher Forschungszentren Lung Cancer GWAS' (Landi 2009 Table 1 footnote). LUCY's record named this placeholder as its parent; see the LUCY line (COHO:0002020) for how that is handled. Replaced by COHO:0000165 (The Helmholtz-Gemeinschaft Deutscher Forschungszentren), which now carries this term's names. Found by the checks of the placeholders' names against their sources recorded in the pipeline repository, completed 2026-09-29."@en; rdfs:label "obsolete German Lung Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16157; , , , , , , , ; , ; "PMID:22037877"; "An international family study of non-syndromic glioma run by the Gliogene Consortium (Genetic Epidemiology of Glioma International Consortium) to find glioma susceptibility genes, first by genome-wide linkage analysis: between 2007 and 2011 its 14 centres in the United States, Sweden, Denmark, the United Kingdom and Israel recruited families with at least two pathologically confirmed intracranial primary gliomas among first- to third-degree relatives, found by screening glioma patients in clinics, by review of medical records or through the internet, and collected questionnaires from probands and blood or saliva samples from living affected relatives."; "The acronym Gliogene Consortium also denotes Genetic Epidemiology of Glioma International Consortium (COHO:0002720); this term is Gliogene study."@en, "The acronym Gliogene also denotes Genetic Epidemiology of Glioma International Consortium (COHO:0002720); this term is Gliogene study."@en; 841; 9797; "GLIOGENE", "GLIOGENE study", "Gliogene", "Gliogene Consortium", "Gliogene family study", "Gliogene: A Familial Brain Tumor Study"; rdfs:label "Gliogene study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16157 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:393a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16157; "glioma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3615132/"; rdfs:comment "The study population comprised 841 glioma patients identified in 376 families (9797 individuals)." . _:393b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4296199/"; rdfs:comment "The Gliogene Consortium recruited 435 glioma families from 14 centers in the United States, Sweden, Denmark, the United Kingdom, and Israel between 2007 and 2011 (7)." . _:393c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22037877"; "Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium."; "PMID:22037877", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3242820/"; rdfs:comment "We have undertaken a genome-wide scan of 75 glioma families in the U.S. ascertained through GLIOGENE." . _:393d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international family study of non-syndromic glioma run by the Gliogene Consortium (Genetic Epidemiology of Glioma International Consortium) to find glioma susceptibility genes, first by genome-wide linkage analysis: between 2007 and 2011 its 14 centres in the United States, Sweden, Denmark, the United Kingdom and Israel recruited families with at least two pathologically confirmed intracranial primary gliomas among first- to third-degree relatives, found by screening glioma patients in clinics, by review of medical records or through the internet, and collected questionnaires from probands and blood or saliva samples from living affected relatives."; "PMID:17855690", "PMID:23290425", "PMID:25482530", "PMID:25652157"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:393e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 841; "Individuals represented in Gliogene family pedigrees and their affected glioma cases"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3615132/"; rdfs:comment "The study population comprised 841 glioma patients identified in 376 families (9797 individuals)." . _:393f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9797; "Individuals represented in Gliogene family pedigrees and their affected glioma cases"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3615132/"; rdfs:comment "The study population comprised 841 glioma patients identified in 376 families (9797 individuals)." . _:39402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLIOGENE"; . _:39412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gliogene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16166; , , , , , , , , , , , , , , , , , , ; , , , , , , , ; "PGS000781", "PMID:28346443"; "A genome-wide association study of glioma led by the US National Cancer Institute, genotyped at the NCI Core Genotyping Facility, that pooled incident glioma cases and matched or previously genotyped controls from 19 studies, mostly prospective cohorts of the United States, Europe and Australia (among them ATBC, CPS-II, the Nurses' Health Study, the Health Professionals Follow-up Study, PLCO, NSHDS and the Melbourne Collaborative Cohort Study), together with case-control studies (among them the Sweden and Denmark arm of INTERPHONE) and the case-only Gliogene study."; 1856; 4955; "GliomaScan Consortium", "GliomaScan consortium"; ; rdfs:label "GliomaScan"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16166 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16166; "glioma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Studies participating in GliomaScan are described in Table 1, and comprise 1,856 glioma cases and 4,955 controls from 14 cohort studies, 3 case-control studies, and 1 community-based case-only study." . _:39432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Multiethnic Cohort MEC Cohort Matched on age,sex, race Illumina 550K 2 6 1993 USA 73.50 75.00" . _:39442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Nurses’ Health Study I and II NHS Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 38 83 1976/1989 USA(11/14States) 66.95 0" . _:39452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Prostate, Lung, Colorectal andOvarian Screening Trial PLCO Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 132 855 1992-2001 USA(severalstates) 71.19 58.67" . _:39462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Melbourne Collaborative CohortStudy MCCS Cohort Matched on year ofbirth, sex, studyregion Illumina 550K 40 75 1990-1994 Australia 67.95 51.30" . _:39472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Health Professionals Follow-upStudy HPFS Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 26 52 1986 US (moststates) 68.08 100" . _:39482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Vitamins and Lifestyle VITAL Cohort Matched on age,sex, race, time todiagnosis Illumina 660W 33 71 2000-2002 USA (WA) 68.48 60.58" . _:39492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Alpha-Tocopherol Beta-CaroteneCancer Prevention Study ATBC Cohort Glioma-freecontrols withprevious GWASdata Illumina 610Q 37 1270 1985-1993 Finland 69.27 100" . _:394a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Women’s Health Study WHS Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 8 31 1991-2009 USA(severalstates) 58.25 0" . _:394b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Nurses’ Health Study I and II NHS Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 38 83 1976/1989 USA(11/14States) 66.95 0" . _:394c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Physician’s Health Study I and II PHS Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 16 54 1982 – 1984,1997 – 2001 USA(severalstates) 71.13 100" . _:394d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "CLUE I–Campaign AgainstCancer and Stroke;CLUE II–Cancer and HeartDisease CLUE Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 36 71 1974-1989 USA (MD) 65.00 46.73" . _:394e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Agricultural Health Study AHS Cohort Frequency-matched2:1 by year ofbirth, sex, race Illumina 660W 18 35 1993-1997 USA (IA,NC) 57.22 60.38" . _:394f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Northern Sweden Health andDisease Study NSHDS Cohort Matched on age,sex, race Illumina 660W 111 934 1985 -ongoing NorthernSweden 52.14 53.98" . _:39502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Gliogene (Sweden) GLIOGENE Case only Swedish glioma-free controls fromNSHDS matchedon age, sex, race Illumina 660W 401 0 2004-2011 USA, UK,Sweden,Denmark,Israel. 54.10 60.01" . _:39512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Interphone Study (Sweden,Denmark) INT-SD Case-control Matched on year ofbirth, sex, studyregion Illumina 660W 277 381 2000-2004 Sweden,Denmark 49.52 56.53" . _:39522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Upper Midwest Health Study –National Institute forOccupational Safety and Health NIOSH-UMHS Case-control Population-basedcontrols frequencymatched 1.5:1 byage, sex, state Illumina 660W 300 542 1995-1997 USA (IA,MI, MN,WI)" . _:39532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "New York University – Women’sHealth Study NYUWHS Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 5 12 1985 - 1991 USA (NY) 65.4 0" . _:39542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Cancer Prevention Study IINutrition Cohort CPS-II Cohort Glioma-freecontrols withprevious GWASdata Illumina 550K 54 98 1992 USA (21states) 72.96 57.24" . _:39552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "National Cancer Institute AdultBrain Study NCI-BTS Case-control Frequency-matched2:1 by hospital,age, sex, race,residential distancefrom hospital Illumina 660W 322 385 1994-1998 USA (AZ,MA, PA)" . _:39562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Melbourne Collaborative CohortStudy MCCS Cohort Matched on year ofbirth, sex, studyregion Illumina 550K 40 75 1990-1994 Australia 67.95 51.30" . _:39572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Interphone Study (Sweden,Denmark) INT-SD Case-control Matched on year ofbirth, sex, studyregion Illumina 660W 277 381 2000-2004 Sweden,Denmark 49.52 56.53" . _:39582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Alpha-Tocopherol Beta-CaroteneCancer Prevention Study ATBC Cohort Glioma-freecontrols withprevious GWASdata Illumina 610Q 37 1270 1985-1993 Finland 69.27 100" . _:39592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Agricultural Health Study AHS Cohort Frequency-matched2:1 by year ofbirth, sex, race Illumina 660W 18 35 1993-1997 USA (IA,NC) 57.22 60.38" . _:395a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000781"; "A Weighted Genetic Risk Score of Adult Glioma Susceptibility Loci Associated with Pediatric Brain Tumor Risk."; "PMID:31792337" . _:395b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346443"; "Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors."; "PMID:28346443", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5558246/unicode"; rdfs:comment "The UK, French, German, MDA, SFAGS and GliomaScan GWAS of non-overlapping case–control series of Northern European ancestry have been the subject of previous studies." . _:395c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of glioma led by the US National Cancer Institute, genotyped at the NCI Core Genotyping Facility, that pooled incident glioma cases and matched or previously genotyped controls from 19 studies, mostly prospective cohorts of the United States, Europe and Australia (among them ATBC, CPS-II, the Nurses' Health Study, the Health Professionals Follow-up Study, PLCO, NSHDS and the Melbourne Collaborative Cohort Study), together with case-control studies (among them the Sweden and Denmark arm of INTERPHONE) and the case-only Gliogene study."; "PMID:22886559", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:395d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1856; "GliomaScan case-control sample after quality control in its 2012 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Studies participating in GliomaScan are described in Table 1, and comprise 1,856 glioma cases and 4,955 controls from 14 cohort studies, 3 case-control studies, and 1 community-based case-only study." . _:395e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4955; "GliomaScan case-control sample after quality control in its 2012 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "Studies participating in GliomaScan are described in Table 1, and comprise 1,856 glioma cases and 4,955 controls from 14 cohort studies, 3 case-control studies, and 1 community-based case-only study." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16196; , ; ; "PGS000020", "PMID:22885922"; "A French type 2 diabetes case-control sample, whose DNA samples were managed by the CNRS UMR 8199 Genomic and Metabolic Disease unit in Lille, genotyped on the Metabochip and contributed to the stage 2 replication of the DIAGRAM consortium's 2012 type 2 diabetes meta-analysis."; 507; 2553; "GMetS (France)"; ; rdfs:label "GMetS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16196 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:395f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16196; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2897/MediaObjects/41588_2014_BFng2897_MOESM63_ESM.pdf"; rdfs:comment "GMetS European (France) Cases 507 (334/173) 55.9 (9.9) N/A N/A 28.5 (3.9) Metabochip Controls 2,553 (1,134/1,419)" . _:39602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2897/MediaObjects/41588_2014_BFng2897_MOESM63_ESM.pdf"; rdfs:comment "GMetS European (France) Cases 507 (334/173)" . _:39612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000020"; "Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores."; "PMID:27513194" . _:39622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22885922"; "Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes."; "PMID:22885922", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; rdfs:comment "GMetS. This work was in part supported by the French Government (Agence Nationale de la Recherche), the French Region of Nord Pas De Calais (Contrat de Projets État-Région), Programme Hospitalier de Recherche Clinique (French Ministry of Health)" . _:39632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French type 2 diabetes case-control sample, whose DNA samples were managed by the CNRS UMR 8199 Genomic and Metabolic Disease unit in Lille, genotyped on the Metabochip and contributed to the stage 2 replication of the DIAGRAM consortium's 2012 type 2 diabetes meta-analysis."; "PMID:22885922", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2383/MediaObjects/41588_2012_BFng2383_MOESM31_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 507; "type 2 diabetes cases and controls genotyped on the Metabochip for the DIAGRAM stage 2 meta-analyses"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2897/MediaObjects/41588_2014_BFng2897_MOESM63_ESM.pdf"; rdfs:comment "GMetS European (France) Cases 507 (334/173) 55.9 (9.9) N/A N/A 28.5 (3.9) Metabochip Controls 2,553 (1,134/1,419)" . _:39652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2553; "type 2 diabetes cases and controls genotyped on the Metabochip for the DIAGRAM stage 2 meta-analyses"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2897/MediaObjects/41588_2014_BFng2897_MOESM63_ESM.pdf"; rdfs:comment "GMetS European (France) Cases 507 (334/173) 55.9 (9.9) N/A N/A 28.5 (3.9) Metabochip Controls 2,553 (1,134/1,419)" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16204, _:genid-371333f489424440b12a13b9d98ced822608-genid16206; , , ; "PMID:22961080"; "A population-based case-control study of overweight or obese adults and age- and sex-matched normal-weight controls aged 35–54 years, noninstitutionalized residents of two urban districts of Shanghai, China (Luwan and Zhabei), recruited from November 2007 to January 2008 to investigate the effects of gut microbiota and environmental factors on obesity and related metabolic disorders."; 559; 500; 1059; "GMOS"; rdfs:label "Gut Microbiota and Obesity Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16204 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16204; "overweight"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2928335/fullTextXML"; rdfs:comment "Five hundred pairs of age- and sex-matched subjects (overweight/obesity) and control subjects (normal-weight) were planned to be recruited." . _:39672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16206; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2928335/fullTextXML"; rdfs:comment "Five hundred pairs of age- and sex-matched subjects (overweight/obesity) and control subjects (normal-weight) were planned to be recruited." . _:39682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2928335/unicode"; rdfs:comment "The Gut Microbiota and Obesity Study was a population-based case-control study among noninstitutionalized residents aged 35–54 years in Shanghai, China." . _:39692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22961080"; "A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans."; "PMID:22961080", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 1 samples for the GWA scan included 1,999 T2D case subjects and 1,976 nondiabetic control subjects drawn from the Nutrition and Health of Aging Population in China (NHAPC) study (312 case and 815 control subjects), the Gut Microbiota and Obesity Study (GMOS) (82 case and 163 control subjects), the Fudan-Huashan Study (807 case and 339 control subjects), and the Beijing Diabetes Survey (798 case and 659 control subjects)." . _:396a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of overweight or obese adults and age- and sex-matched normal-weight controls aged 35–54 years, noninstitutionalized residents of two urban districts of Shanghai, China (Luwan and Zhabei), recruited from November 2007 to January 2008 to investigate the effects of gut microbiota and environmental factors on obesity and related metabolic disorders."; "PMID:20530747"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:396b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 559; "eligible participants recruited November 2007 to January 2008 (overweight/obese cases and normal-weight controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2928335/fullTextXML"; rdfs:comment "A total of 1,059 eligible participants (559 overweight/obese and 500 normal-weight) were successfully recruited." . _:396c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 500; "eligible participants recruited November 2007 to January 2008 (overweight/obese cases and normal-weight controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2928335/fullTextXML"; rdfs:comment "A total of 1,059 eligible participants (559 overweight/obese and 500 normal-weight) were successfully recruited." . _:396d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1059; "eligible participants recruited November 2007 to January 2008 (overweight/obese cases and normal-weight controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2928335/fullTextXML"; rdfs:comment "A total of 1,059 eligible participants (559 overweight/obese and 500 normal-weight) were successfully recruited." . _:396e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GMOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16215, _:genid-371333f489424440b12a13b9d98ced822608-genid16217, _:genid-371333f489424440b12a13b9d98ced822608-genid16219, _:genid-371333f489424440b12a13b9d98ced822608-genid16221, _:genid-371333f489424440b12a13b9d98ced822608-genid16223; "PGS000759", "PMID:34099659"; "A collection of germline whole-genome sequencing data, assembled by Genentech's Human Genetics Initiative, from patients in seven Roche/Genentech phase 3 trials of the anti-PD-L1 antibody atezolizumab, alone or combined with chemotherapy or bevacizumab, and their standard-of-care control arms in six cancers (IMvigor211, IMpower150, IMpower130, IMpower131, IMpower133, IMmotion151 and IMpassion130), sequenced from blood samples given under the trials' optional research biosample consent."; 3286; "GNEHGI2020Q2"; ; rdfs:label "Genentech Human Genetics Initiative Cancer Immunology Cohort 2020 Q2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16215 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16217 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16219 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16221 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16223 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:396f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16215; "metastatic renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184890/fullTextXML"; rdfs:comment "seven phase 3 trials testing atezolizumab combinations with chemotherapies and bevacizumab spanning six cancer indications: metastatic urothelial carcinoma (IMvigor21115), squamous and non-squamous non-small cell lung cancer (IMpower15016, IMpower13017, IMpower13118), small cell lung cancer (IMpower13319), metastatic renal cell carcinoma (IMmotion15120), and triple-negative breast cancer (TNBC) (IMpassion13021,22)" . _:39702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16217; "non-small cell lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184890/fullTextXML"; rdfs:comment "seven phase 3 trials testing atezolizumab combinations with chemotherapies and bevacizumab spanning six cancer indications: metastatic urothelial carcinoma (IMvigor21115), squamous and non-squamous non-small cell lung cancer (IMpower15016, IMpower13017, IMpower13118), small cell lung cancer (IMpower13319), metastatic renal cell carcinoma (IMmotion15120), and triple-negative breast cancer (TNBC) (IMpassion13021,22)" . _:39712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16219; "triple-negative breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184890/fullTextXML"; rdfs:comment "seven phase 3 trials testing atezolizumab combinations with chemotherapies and bevacizumab spanning six cancer indications: metastatic urothelial carcinoma (IMvigor21115), squamous and non-squamous non-small cell lung cancer (IMpower15016, IMpower13017, IMpower13118), small cell lung cancer (IMpower13319), metastatic renal cell carcinoma (IMmotion15120), and triple-negative breast cancer (TNBC) (IMpassion13021,22)" . _:39722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16221; "small cell lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184890/fullTextXML"; rdfs:comment "seven phase 3 trials testing atezolizumab combinations with chemotherapies and bevacizumab spanning six cancer indications: metastatic urothelial carcinoma (IMvigor21115), squamous and non-squamous non-small cell lung cancer (IMpower15016, IMpower13017, IMpower13118), small cell lung cancer (IMpower13319), metastatic renal cell carcinoma (IMmotion15120), and triple-negative breast cancer (TNBC) (IMpassion13021,22)" . _:39732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16223; "metastatic urothelial carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184890/fullTextXML"; rdfs:comment "seven phase 3 trials testing atezolizumab combinations with chemotherapies and bevacizumab spanning six cancer indications: metastatic urothelial carcinoma (IMvigor21115), squamous and non-squamous non-small cell lung cancer (IMpower15016, IMpower13017, IMpower13118), small cell lung cancer (IMpower13319), metastatic renal cell carcinoma (IMmotion15120), and triple-negative breast cancer (TNBC) (IMpassion13021,22)" . _:39742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000759"; "Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade."; "PMID:34099659" . _:39752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34099659"; "Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade."; "PMID:34099659", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8184890/fullTextXML"; rdfs:comment "We construct a polygenic risk score (PRS) for lifetime risk of hypothyroidism using a GWAS from the UK Biobank and apply this PRS to genetic data collected from 2,616 patients of European ancestry from these trials." . _:39762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of germline whole-genome sequencing data, assembled by Genentech's Human Genetics Initiative, from patients in seven Roche/Genentech phase 3 trials of the anti-PD-L1 antibody atezolizumab, alone or combined with chemotherapy or bevacizumab, and their standard-of-care control arms in six cancers (IMvigor211, IMpower150, IMpower130, IMpower131, IMpower133, IMmotion151 and IMpassion130), sequenced from blood samples given under the trials' optional research biosample consent."; "PMID:34099659"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3286; "trial patients with collected germline whole-genome sequencing data, all ancestries, before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-23661-4/MediaObjects/41467_2021_23661_MOESM1_ESM.pdf"; rdfs:comment "3,286 patients with collected germline whole genome sequencing data" . _:39782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GNEHGI2020Q2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16230, _:genid-371333f489424440b12a13b9d98ced822608-genid16232; , , ; "PMID:29380848"; "A community-based prospective cohort of adults aged 40 to 83 at baseline living in Guangzhou, China, which joins the original Guangzhou Nutrition and Health Study, recruited between 2008 and 2013 from communities across the city through local advertisements, health talks and referrals, with the controls of a case-control study of hip fractures recruited in 2009-2015. Participants are followed up about every three years with lifestyle, dietary, body composition, imaging and multi-omics assessments, including genome-wide genotyping, serum metabolome and proteome and gut microbiome, to study the nutritional, environmental and genetic determinants of metabolic disease."; 5118; "GNHS"; rdfs:label "Guangzhou Nutrition and Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16230 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16232 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16230; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11078596/fullTextXML"; rdfs:comment "The cohort will provide data that will be influential in establishing the role of nutrition in metabolic diseases with multi-omics." . _:397a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16232; "metabolic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11078596/fullTextXML"; rdfs:comment "In 2008, we launched the GNHS project, a cohort designed to provide evidence for the determinants of metabolic diseases in nutritional aspects, as well as other environmental and genetic factors, and explore possible biomarkers and mechanisms with multi-omics integration." . _:397b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11078596/fullTextXML"; rdfs:comment "The population-based sample of adults in Guangzhou, China (baseline: 40–83 years old; n = 5,118) was followed up about every 3 years." . _:397c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29380848"; "Tea Consumption Is Associated with Increased Bone Strength in Middle-Aged and Elderly Chinese Women."; "PMID:29380848", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12876336/fullTextXML"; rdfs:comment "The participants of this study were from the ongoing Guangzhou Nutrition and Health Study, a cohort study started in 2008 that was designed to assess the determinants of osteoporosis and cardiometabolic outcomes (19)." . _:397d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort of adults aged 40 to 83 at baseline living in Guangzhou, China, which joins the original Guangzhou Nutrition and Health Study, recruited between 2008 and 2013 from communities across the city through local advertisements, health talks and referrals, with the controls of a case-control study of hip fractures recruited in 2009-2015. Participants are followed up about every three years with lifestyle, dietary, body composition, imaging and multi-omics assessments, including genome-wide genotyping, serum metabolome and proteome and gut microbiome, to study the nutritional, environmental and genetic determinants of metabolic disease."; "PMID:37813622"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:397e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5118; "participants recruited at baseline in 2008-2015 (original GNHS and CCFH sub-cohorts)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11078596/fullTextXML"; rdfs:comment "After completing the baseline examination, a total of 5,118 participants were recruited during 2008–2015 in the GNHS project." . _:397f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GNHS"; . a owl:NamedIndividual, ; , ; ; "PMID:31187567"; "A family-based imaging genetics study of Mexican Americans in San Antonio, Texas, United States, which recruited members of the extended pedigrees of the San Antonio Family Heart Study and the San Antonio Family Gallbladder Study, with the children and grandchildren of their probands, for brain magnetic resonance imaging and neuropsychological and psychiatric assessment at the University of Texas Health Science Center at San Antonio, to localise, identify and characterise genes and quantitative trait loci that influence brain structure and function."; 1911; "GOBS", "Genetics of Brain Structure", "Genetics of Brain Structure and Function", "Genetics of Brain Structure and Function study"; rdfs:label "Genetics of Brain Structure and Function Study"@en . _:39802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9531122/fullTextXML"; rdfs:comment "To minimize selection bias, participants were drawn from extended pedigrees of Mexican American families recruited at random from the San Antonio, Texas community." . _:39812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11702472/fullTextXML"; rdfs:comment "Participants were part of the genetics of brain structure and function study (GOBS) (McKay et al. 2014; Olvera et al. 2011), a subset of individuals from the San Antonio Family Heart Study (Mahaney et al. 1995; Mitchell et al. 1996) and the San Antonio Family Gallbladder Study (Puppala et al. 2006)." . _:39822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31187567"; "Evidence for genetic correlation between human cerebral white matter microstructure and inflammation."; "PMID:31187567", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31187567+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted genetic correlation analyses of these traits using randomly ascertained extended pedigrees from the Genetics of Brain Structure and Function Study (N = 1862, 59% females, ages 18-97 years; 42 ± 15.7)." . _:39832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based imaging genetics study of Mexican Americans in San Antonio, Texas, United States, which recruited members of the extended pedigrees of the San Antonio Family Heart Study and the San Antonio Family Gallbladder Study, with the children and grandchildren of their probands, for brain magnetic resonance imaging and neuropsychological and psychiatric assessment at the University of Texas Health Science Center at San Antonio, to localise, identify and characterise genes and quantitative trait loci that influence brain structure and function."; "PMID:21557468", "PMID:22028680", "PMID:36204553"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1911; "individuals recruited into GOBS in three data-acquisition blocks over 15 years"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9531122/fullTextXML"; rdfs:comment "Briefly, 1,911 individuals were recruited in three data acquisition blocks over the course of 15 years." . _:39852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16245; , ; "PMID:42216137"; "A prospective, population-based cohort study of adults in south-eastern Australia, in which women were randomly recruited from the general population in 1993–1997, with further women aged 20–29 years recruited at the 10-year follow-up, and a random age-stratified sample of men aged over 20 years was recruited from the Barwon Statistical Division through the Australian electoral roll in 2001–2006, followed with repeated assessments of bone mineral density, fractures and other musculoskeletal and general health outcomes."; 3034; "GOS"; rdfs:label "Geelong Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16245 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16245; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11234898/fullTextXML"; rdfs:comment "The Geelong Osteoporosis Study (GOS) is a prospective, population-based cohort study of adults in Australia." . _:39872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11234898/fullTextXML"; rdfs:comment "The Geelong Osteoporosis Study (GOS) is a prospective, population-based cohort study of adults in Australia." . _:39882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42216137"; "Applied comparison of stepwise Cox and Cox-LASSO regression in selecting determinants of joint replacement: insights from the Geelong Osteoporosis Study."; "PMID:42216137", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42216137+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data from 2931 participants aged 20-96y from the Geelong Osteoporosis Study were analysed." . _:39892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, population-based cohort study of adults in south-eastern Australia, in which women were randomly recruited from the general population in 1993–1997, with further women aged 20–29 years recruited at the 10-year follow-up, and a random age-stratified sample of men aged over 20 years was recruited from the Barwon Statistical Division through the Australian electoral roll in 2001–2006, followed with repeated assessments of bone mineral density, fractures and other musculoskeletal and general health outcomes."; "PMID:10525717", "PMID:30005608", "PMID:38989260"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:398a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3034; "women (1,494, recruited 1993-1997) and men (1,540, recruited 2001-2006) assessed at baseline"; "PMID:38719696"; rdfs:comment "A total of 3,034 participants (1,494 women and 1,540 men) were assessed at baseline in the Geelong Osteoporosis Study, a large regional Australian population cohort study." . _:398b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16252; , ; "PGS005200", "PMID:26231842"; "A prospective multicentre observational study at seven hospitals and practices in Pennsylvania, Georgia, Massachusetts and Ohio of adults with a left ventricular ejection fraction of 30% or less who had received a new implantable cardioverter-defibrillator or an ICD generator change within the previous five years, followed yearly for up to five years for appropriate ICD shocks and for death, heart transplant or ventricular assist device placement, with blood drawn at enrolment to relate genetic polymorphisms to these outcomes."; 1808; "GRADE", "GRADE Multicenter Study"; ; rdfs:label "Genetic Risk Assessment of Defibrillator Events"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16252 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:398c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16252; "LV systolic dysfunction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4599449/fullTextXML"; rdfs:comment "Second, patients recruited into the GRADE study all had an LVEF ≤30%, and therefore these results cannot be extrapolated to patients with lesser degrees of LV systolic dysfunction." . _:398d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4599449/fullTextXML"; rdfs:comment "Enrolling centers were the University of Pittsburgh Medical Center, the Pittsburgh VA Healthcare System, Emory University Hospitals, Atlanta VA Medical Center, Massachusetts General Hospital, Mid-Ohio Cardiology Group, and the Ohio State Medical Center." . _:398e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:398f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26231842"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:26231842", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4599449/fullTextXML"; rdfs:comment "Patients from the GRADE study, a prospective multicenter observational study that recruited 1808 subjects who received a new ICD implant or had an ICD generator change within the past 5 years, were retrospectively analyzed." . _:39902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre observational study at seven hospitals and practices in Pennsylvania, Georgia, Massachusetts and Ohio of adults with a left ventricular ejection fraction of 30% or less who had received a new implantable cardioverter-defibrillator or an ICD generator change within the previous five years, followed yearly for up to five years for appropriate ICD shocks and for death, heart transplant or ventricular assist device placement, with blood drawn at enrolment to relate genetic polymorphisms to these outcomes."; "PMID:22004663", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4599449/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1808; "GRADE subjects recruited with a new ICD or recent generator change"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4599449/fullTextXML"; rdfs:comment "Patients from the GRADE study, a prospective multicenter observational study that recruited 1808 subjects who received a new ICD implant or had an ICD generator change within the past 5 years, were retrospectively analyzed." . _:39922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRADE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16260; , , ; "PGS012530", "PMID:40118068"; "A prospective multicentre, hospital-based, coronary angiography-based case-control study in China, coordinated from Zhongshan Hospital, Fudan University, that recruited adults at 38 cardiac centres between May 2017 and April 2019, centred on patients with early-onset coronary artery disease (onset at 45 years or younger) and older controls (65 years or older) without angiographic coronary disease, to identify genetic factors in the susceptibility to and outcomes of early-onset coronary artery disease."; 2296; 1483; 3779; "GRAND", "GRAND study", "Genetic characteristics of coronary artery disease in Chinese young adults", "Genetics and clinical characteristics of coRonary Artery disease in the ChiNese young aDults", "clinical and genetic characteristics of coronary artery disease in Chinese young adults"; ; rdfs:label "Genetic characteristics of coRonary Artery disease in ChiNese young aDults"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16260 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16260; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12382207/fullTextXML"; rdfs:comment "Of the 3779 individuals included in GRAND, 2296 had CAD, comprising 453 with myocardial infarction, 815 with stable angina, and 967 with unstable angina (Additional file 1: Table S2)." . _:39942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12008806/fullTextXML"; rdfs:comment "The GRAND study recruited adult participants from 38 cardiac centers across China between May 2017 and April 2019." . _:39952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS012530"; "Improving Genetic Risk Prediction of CAD in Chinese by Multi-ancestry and Multi-trait GWAS Integration."; "PMID:42152175" . _:39962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40118068"; "Cross-ancestry analyses of Chinese and European populations reveal insights into the genetic architecture and disease implication of metabolites."; "PMID:40118068", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12008806/fullTextXML"; rdfs:comment "The Genetic characteristics of coRonary Artery disease in ChiNese young aDults (GRAND) study is a multicenter, hospital-based observational clinical study." . _:39972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre, hospital-based, coronary angiography-based case-control study in China, coordinated from Zhongshan Hospital, Fudan University, that recruited adults at 38 cardiac centres between May 2017 and April 2019, centred on patients with early-onset coronary artery disease (onset at 45 years or younger) and older controls (65 years or older) without angiographic coronary disease, to identify genetic factors in the susceptibility to and outcomes of early-onset coronary artery disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11645474/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12008806/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9429139/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2296; "GRAND participants in the 2025 remnant-cholesterol cross-sectional study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12382207/fullTextXML"; rdfs:comment "Of the 3779 individuals included in GRAND, 2296 had CAD, comprising 453 with myocardial infarction, 815 with stable angina, and 967 with unstable angina (Additional file 1: Table S2)." . _:39992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1483; "GRAND participants in the 2025 remnant-cholesterol cross-sectional study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12382207/fullTextXML"; rdfs:comment "Coronary artery diseaseNcase = 2296; Ncontrol = 1483" . _:399a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3779; "GRAND participants in the 2025 remnant-cholesterol cross-sectional study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12382207/fullTextXML"; rdfs:comment "Of the 3779 individuals included in GRAND, 2296 had CAD, comprising 453 with myocardial infarction, 815 with stable angina, and 967 with unstable angina (Additional file 1: Table S2)." . _:399b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRAND"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16270, _:genid-371333f489424440b12a13b9d98ced822608-genid16272; , ; "PMID:28623238"; "A cross-sectional data collection of patients with schizophrenia or schizoaffective disorder in Germany, recruited from 2005 by a single travelling team of investigators at 23 collaborating psychiatric hospitals, among them inpatients, outpatients, residents of sheltered homes and forensic patients, and phenotyped with more than 3,000 data points per patient, with healthy blood-donor controls recruited in Göttingen for genetic analyses, built as the basis for phenotype-based genetic association studies of schizophrenia."; 1085; "GRAS", "GRAS Data Collection", "GRAS cohort", "GRAS data collection", "GRAS sample", "Gottingen Research Association for Schizophrenia"; rdfs:label "Göttingen Research Association for Schizophrenia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16270 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16272 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:399c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16270; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3002316/fullTextXML"; rdfs:comment "Inclusion criteria were (1) confirmed or suspected diagnosis of schizophrenia or schizoaffective disorder according to DSM-IV and (2) at least some ability to cooperate." . _:399d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16272; "schizoaffective disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3002316/fullTextXML"; rdfs:comment "Inclusion criteria were (1) confirmed or suspected diagnosis of schizophrenia or schizoaffective disorder according to DSM-IV and (2) at least some ability to cooperate." . _:399e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3002316/fullTextXML"; rdfs:comment "For this purpose, 1085 patients were recruited between 2005 and 2010 by an invariable team of traveling investigators in a cross-sectional field study that comprised 23 German psychiatric hospitals." . _:399f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28623238"; "A normal genetic variation modulates synaptic MMP-9 protein levels and the severity of schizophrenia symptoms."; "PMID:28623238", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28623238+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the present study, we performed a phenotype-based genetic association study (PGAS) in > 1,000 schizophrenia patients from the Göttingen Research Association for Schizophrenia (GRAS) data collection and found an association between the MMP-9 rs20544 C/T single-nucleotide polymorphism (SNP) located in the 3'untranslated region (UTR) and the severity of a chronic delusional syndrome." . _:39a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional data collection of patients with schizophrenia or schizoaffective disorder in Germany, recruited from 2005 by a single travelling team of investigators at 23 collaborating psychiatric hospitals, among them inpatients, outpatients, residents of sheltered homes and forensic patients, and phenotyped with more than 3,000 data points per patient, with healthy blood-donor controls recruited in Göttingen for genetic analyses, built as the basis for phenotype-based genetic association studies of schizophrenia."; "PMID:20819981", "PMID:21067598"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1085; "patients recruited into the GRAS data collection in 2005-2010; blood-donor controls not counted"; "PMID:21067598"; rdfs:comment "For this purpose, 1085 patients were recruited between 2005 and 2010 by an invariable team of traveling investigators in a cross-sectional field study that comprised 23 German psychiatric hospitals." . _:39a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16279; , , ; , , ; "PGS005204", "PMID:40691366"; "A collection of Indian cohorts brought together for genetic studies of type 2 diabetes by the Genomic Research on Complex Diseases group at the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, including the Indian Diabetes Prevention Study 3, the Pune Maternal Nutrition Study and the Wellcome Genetics (WellGen) study, whose type 2 diabetes cases (by history, treatment or WHO 1999 oral glucose tolerance criteria) and normoglycaemic controls were genotyped genome-wide."; 2219; "GRCCDS", "Genomic Research Cohort for CCMB Diabetes Study"; ; rdfs:label "Genomic Research Cohorts for CCMB Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16279 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16279; "type 2 diabetes mellitus"; "https://link.springer.com/article/10.1007/s00125-006-0502-2"; rdfs:comment "We studied 955 type 2 diabetes mellitus patients and 399 ethnically matched control subjects (Indo-Europeans) from Pune, Maharashtra, Western India." . _:39a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC10363502"; rdfs:comment "People with T2D (n = 3111) being treated at the Diabetes Unit, KEM Hospital (Pune, India) and associated clinics were included in the WellGen cohort." . _:39a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005204"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:39a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "Indian Diabetes Prevention Study 3 (IDPP3) (part of Genomic Research Cohorts for CCMB Diabetes Study (GRCCDS))" . _:39a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of Indian cohorts brought together for genetic studies of type 2 diabetes by the Genomic Research on Complex Diseases group at the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, including the Indian Diabetes Prevention Study 3, the Pune Maternal Nutrition Study and the Wellcome Genetics (WellGen) study, whose type 2 diabetes cases (by history, treatment or WHO 1999 oral glucose tolerance criteria) and normoglycaemic controls were genotyped genome-wide."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-022-01058-3/MediaObjects/41588_2022_1058_MOESM3_ESM.xlsx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2219; "participants in the GIANT BMI GWAS (Nmax), an analysed subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "GRCCDS | Genomic Research Cohorts for CCMB Diabetes Study | SAS | 2219" . _:39a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRCCDS"; . a owl:NamedIndividual, ; , ; "PMID:21082022"; "An ongoing research programme at the renal function unit of the University Medical Center Groningen, the Netherlands, that hosts and harmonises a series of studies of renal hemodynamics, mainly in healthy volunteers, under a common protocol of integrated measurement of renal hemodynamics and extracellular volume, with standardised methods and calibration over time; participants are typically studied on a standardised dietary sodium intake."; "GRECO", "Groningen Renal Hemodynamic Cohorts"; rdfs:label "Groningen Renal Hemodynamic Cohort Study Group"@en . _:39aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4552520/fullTextXML"; rdfs:comment "The GRECO program hosts and harmonizes studies on renal hemodynamics at the renal function unit of the University Medical Center Groningen, by standardization of methodology, including harmonization of study protocols and calibration over time." . _:39ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21082022"; "Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension."; "PMID:21082022", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2965757/"; rdfs:comment "In the small GRECO cohort, urinary uromodulin concentration (p = 0.004) and 24 hour uromodulin excretion (p = 0.002; Wilcoxon′s signed ranks test) were found to be significantly increased after a high sodium intake (Table 6)." . _:39ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing research programme at the renal function unit of the University Medical Center Groningen, the Netherlands, that hosts and harmonises a series of studies of renal hemodynamics, mainly in healthy volunteers, under a common protocol of integrated measurement of renal hemodynamics and extracellular volume, with standardised methods and calibration over time; participants are typically studied on a standardised dietary sodium intake."; "PMID:21082022", "PMID:26149279"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRECO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16291; , ; ; "PMID:19536330"; "A self-referred registry of families with two or more cases of ovarian cancer among blood relatives, or with a cancer syndrome possibly related to ovarian cancer, established in 1981 at Roswell Park Cancer Institute in Buffalo, New York, United States, which receives family cancer information from throughout the United States, obtains detailed family histories, documents cancers through medical records and pathology review, and collects and stores biological samples from registry participants for research on familial ovarian cancer."; 3802; 7669; "Familial Ovarian Cancer Registry", "GRFOCR"; rdfs:label "Gilda Radner Familial Ovarian Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16291 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16291; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2694280/fullTextXML"; rdfs:comment "The families included in the present study comprised of 1412 families ascertained to have two or more cases of ovarian cancer; 17 families with one case of ovarian cancer and two cases of cancer at other sites; and 490 families in the category of those having at least one female with more than one primary tumors with one of the primaries being ovarian cancer or having more than one case of cancer with at least one case being ovarian cancer and the other cancer considered to be of early onset." . _:39af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2694280/fullTextXML"; rdfs:comment "The primary function of the Registry is to receive family cancer information voluntarily contributed throughout the United States by ovarian cancer patients, referring and concerned physicians, concerned women, and patients of the Roswell Park Cancer Institute (RPCI) Gynecologic Oncology Department." . _:39b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19536330"; "Complex segregation analysis of pedigrees from the Gilda Radner Familial Ovarian Cancer Registry reveals evidence for mendelian dominant inheritance."; "PMID:19536330", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19536330+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The goal of this study was to investigate the inheritance model that best fits the observed transmission pattern of ovarian cancer among 7669 members of 1919 pedigrees ascertained through probands from the Gilda Radner Familial Ovarian Cancer Registry at Roswell Park Cancer Institute, Buffalo, New York." . _:39b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A self-referred registry of families with two or more cases of ovarian cancer among blood relatives, or with a cancer syndrome possibly related to ovarian cancer, established in 1981 at Roswell Park Cancer Institute in Buffalo, New York, United States, which receives family cancer information from throughout the United States, obtains detailed family histories, documents cancers through medical records and pathology review, and collects and stores biological samples from registry participants for research on familial ovarian cancer."; "PMID:19536330", "PMID:29447163", "PMID:8420680"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3802; "Real adult registry pedigree members in the 2009 segregation analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2694280/fullTextXML"; rdfs:comment "Of the 6213 females, 3802 were affected and 2253 unaffected while affection status for 158 females was unknown." . _:39b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7669; "Real adult registry pedigree members in the 2009 segregation analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2694280/fullTextXML"; rdfs:comment "Subjects for this study consisted of 7669 adult members from 1919 different pedigrees from the GRFOCR." . _:39b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRFOCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16299; , ; "PMID:23157996"; "A research program at Cedars-Sinai Medical Center, Los Angeles, launched as the Gilda Radner Hereditary Cancer Early Detection Program, that from 1991 enrolled women at elevated risk of cancer because of their family histories, among them carriers of BRCA1 and BRCA2 mutations, offered them ovarian cancer screening and, once it became clinically available, BRCA genetic testing, and keeps their serum samples and lymphoblastoid cell lines in a biorepository for later studies."; 3623; "GRHCP", "Gilda Radner Hereditary Cancer Early Detection Program"; rdfs:label "Gilda Radner Hereditary Cancer Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16299; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11047303/fullTextXML"; rdfs:comment "The program enrolled women at elevated risk due to their family histories of cancer, and participants underwent regular screenings with CA125 and ultrasound in an attempt to diagnose ovarian cancer before it had spread." . _:39b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4572843/unicode"; rdfs:comment "Under Institutional Review Board-approved protocol (18941) women with BRCA 1/2 mutations were identified through the Gilda Radner Hereditary Cancer Program at Cedars-Sinai Medical Center." . _:39b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23157996"; "Biopsychological stress factors in BRCA mutation carriers."; "PMID:23157996", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23157996+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "BRCA-carriers with known maternal transmission enrolled in the Gilda Radner Hereditary Cancer Program were invited to participate." . _:39b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research program at Cedars-Sinai Medical Center, Los Angeles, launched as the Gilda Radner Hereditary Cancer Early Detection Program, that from 1991 enrolled women at elevated risk of cancer because of their family histories, among them carriers of BRCA1 and BRCA2 mutations, offered them ovarian cancer screening and, once it became clinically available, BRCA genetic testing, and keeps their serum samples and lymphoblastoid cell lines in a biorepository for later studies."; "PMID:23157996", "PMID:25256924", "PMID:34965417", "PMID:38230704"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3623; "women who consented to the program and the Women's Cancer Program biorepository, 1991-2008"; "PMID:25256924"; rdfs:comment "Between 1991–2008, 3623 women consented to the Gilda Radner Hereditary Cancer Program and the Women’s Cancer Program biorepository." . _:39ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRHCP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16306; , ; ; "PGS005170", "PMID:34887591"; "A cohort of survivors of myocardial infarction in Greece, followed for recurrent events, whose participants have been genotyped and profiled for gene expression after the index infarction to study the genetics of recurrent myocardial infarction and of cardiometabolic traits."; 173; "GRMIC"; ; rdfs:label "Greek Recurrent Myocardial Infarction Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16306 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16306; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6778823/fullTextXML"; rdfs:comment "Five of the identified genes (CHD7, IST1, KIAA1958, MAP3K5, UBFD1) were also found to be differentially expressed six months after a MI in 39 MI survivors (Greek Recurrent Myocardial Infarction Cohort) that had not experienced any recurrent event during that period (p-adj ≤10-5)." . _:39bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:39bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34887591"; "The power of genetic diversity in genome-wide association studies of lipids."; "PMID:34887591", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM1_ESM.pdf"; rdfs:comment "Greek Recurrent Myocardial Infarction Cohort /NAFLD Study Work was supported by the British Heart Foundation (BHF) grant RG/14/5/30893 (P.D.)" . _:39be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of survivors of myocardial infarction in Greece, followed for recurrent events, whose participants have been genotyped and profiled for gene expression after the index infarction to study the genetics of recurrent myocardial infarction and of cardiometabolic traits."; "PMID:34887591", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6778823/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 173; "GRMIC participants contributing to GLGC 2021"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "GRMIC | Greek Recurrent Myocardial Infarction Cohort | Greece | EUR | 173 | 0.82658959537572252 | 60.208791208791197 | Fasting | 22 individuals | 34.693641618497097 | 108.456647398844 | Measured | 149.306358381503 | 172.96531791907501 | Illumina Human Core Exome | Minimac | HRC and 1KGP3 | rvtests" . _:39c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GRMIC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. GSICSS is the Stroke Genetics Network's Glasgow ImmunoChip Study (PMID:26708676), the Glasgow ischaemic stroke sample with the same cases and controls as the Glasgow Stroke Sample. Replaced by COHO:0001809 (Glasgow Stroke Sample), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Glasgow, Scotland ImmunoChip Study Samples"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:27754483"; "A neuroimaging genetics study of clinically normal participants, mostly young adults aged 18 to 35, recruited from the Boston community, United States, in 2008–2012 through ongoing research studies at Harvard University and Massachusetts General Hospital that shared a common acquisition protocol, who underwent structural and functional magnetic resonance imaging, gave saliva for DNA and completed demographic, health, behavioural, cognitive and personality assessments, to link individual differences in brain structure and function to behaviour and genetic variation."; 3000; "GSP", "Harvard/MGH Brain Genomics Superstruct Project"; rdfs:label "Brain Genomics Superstruct Project"@en . _:39c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4493828/fullTextXML"; rdfs:comment "Between 2008 and 2012 young adults (ages 18 to 35) with normal or corrected-to-normal vision were recruited from the Boston community to participate in the GSP." . _:39c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27754483"; "Association between polygenic risk for schizophrenia, neurocognition and social cognition across development."; "PMID:27754483", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27754483+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We then looked at the association between schizophrenia polygenic risk and emotion identification speed in the Harvard/MGH Brain Genomics Superstruct Project sample (695 participants ages 18-35 years), where we replicated the association between schizophrenia polygenic risk and emotion identification speed." . _:39c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A neuroimaging genetics study of clinically normal participants, mostly young adults aged 18 to 35, recruited from the Boston community, United States, in 2008–2012 through ongoing research studies at Harvard University and Massachusetts General Hospital that shared a common acquisition protocol, who underwent structural and functional magnetic resonance imaging, gave saliva for DNA and completed demographic, health, behavioural, cognitive and personality assessments, to link individual differences in brain structure and function to behaviour and genetic variation."; "PMID:26175908"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "participants in the broader GSP control sample (stated as a lower bound, 'over 3,000')"; "PMID:26175908"; rdfs:comment "The broader GSP control sample, which has over 3,000 participants, includes individuals over the age of 35 and also several hundred datasets acquired using a 32-channel head coil." . _:39c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GSP"; . a owl:NamedIndividual, ; ; "GTB"; ; rdfs:label "Ghanaian TB study"@en . _:39c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GTB"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. Greek TJR cases is the label osteoarthritis consortium papers give a Greek joint-replacement case-control set used for replication (PMID:20112360, PMID:23989986), not a named study. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Greek TJR cases"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16319; , , , ; , ; "PGS000351", "PMID:22266113"; "The second UK genome-wide association study of breast cancer, funded by the Wellcome Trust and Cancer Research UK, whose cases are women with breast cancer from UK cancer genetics clinics, recruited through the Familial Breast Cancer Study, and from UK oncology clinics, recruited through the POSH study, and whose controls come from the 1958 Birth Cohort and the UK National Blood Service, genotyped by the Wellcome Trust Case Control Consortium 2."; 3960; 5069; "GWAS_UK2", "UK2", "UK2 GWAS of breast cancer"; ; rdfs:label "UK2 GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16319; "breast cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC3632836"; rdfs:comment "We studied 3,960 cases of breast cancer from the UK, selected for a positive family history of breast cancer." . _:39c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "UK2 UK UK cancer genetics clinics + oncology clinicas WTCCC2: 1958 Birth Cohort + UK National Blood Service Illumina 670k (cases) Illumina 1.2M (controls) 3628 5190" . _:39c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "UK2 UK UK cancer genetics clinics + oncology clinicas WTCCC2: 1958 Birth Cohort + UK National Blood Service Illumina 670k (cases) Illumina 1.2M (controls) 3628 5190" . _:39ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/ng.1049"; rdfs:comment "FBCS organized patient recruitment and data and sample collection for the UK2 GWAS." . _:39cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3378688/"; rdfs:comment "The present analysis was based on genotype data from the UK2 GWAS, as previously described in (5). The cases were recruited from 23 clinical genetics centres in the UK through the Familial Breast Cancer Study (FBCS) and from oncology clinics in the UK through the Prospective study of Outcomes in Sporadic versus Hereditary (POSH) breast cancer study." . _:39cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "UK2 UK UK cancer genetics clinics + oncology clinicas WTCCC2: 1958 Birth Cohort + UK National Blood Service Illumina 670k (cases) Illumina 1.2M (controls)" . _:39cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000351"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:39ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22266113"; "Mammographic breast density and breast cancer: evidence of a shared genetic basis."; "PMID:22266113", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22266113+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To explore whether PMD and breast cancer have a shared genetic basis, we identified genetic variants most strongly associated with PMD in a published meta-analysis of five genome-wide association studies (GWAS) and used these to construct risk scores for 3,628 breast cancer cases and 5,190 controls from the UK2 GWAS of breast cancer." . _:39cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The second UK genome-wide association study of breast cancer, funded by the Wellcome Trust and Cancer Research UK, whose cases are women with breast cancer from UK cancer genetics clinics, recruited through the Familial Breast Cancer Study, and from UK oncology clinics, recruited through the POSH study, and whose controls come from the 1958 Birth Cohort and the UK National Blood Service, genotyped by the Wellcome Trust Case Control Consortium 2."; "PMID:20453838", "https://europepmc.org/api/getPdf?pmcid=PMC4229095", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3960; "familial breast cancer cases and UK population controls of stage 1 of the GWAS, as its design paper states them (no total stated)"; "https://europepmc.org/api/getPdf?pmcid=PMC3632836"; rdfs:comment "We studied 3,960 cases of breast cancer from the UK, selected for a positive family history of breast cancer." . _:39d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5069; "familial breast cancer cases and UK population controls of stage 1 of the GWAS, as its design paper states them (no total stated)"; "https://europepmc.org/api/getPdf?pmcid=PMC3632836"; rdfs:comment "Case genotypes were compared with those from 5,069 controls, drawn from two UK population-based studies." . _:39d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GWAS_UK2"; . _:39d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK2"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Gene By Environment (GXE) is a study design, not a cohort, and the PGS Catalog’s metadata tables list no sample for the id. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Gene By Environment"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16333; , , ; ; "PMID:22158537"; "A type 2 diabetes case-control sample of Korean adults contributed by the Korea National Institute of Health to the Asian Genetic Epidemiology Network's type 2 diabetes meta-analysis. Its cases, with type 2 diabetes of onset at age 40 or older, were drawn from the population-based Health2 cohort of the Korean Genome and Epidemiology Study; its controls, without diabetes or anti-diabetic medication and with normal fasting glucose, came partly from the Health2 cohort (those older than 60 with a normal oral glucose tolerance test) and partly from the Health Examinee (HEXA) shared control study. It was genotyped genome-wide on the Affymetrix Genome-Wide Human SNP Array 6.0."; 1183; 1305; 2488; "H2T2DS", "HT2DS"; rdfs:label "Health2 T2D Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16333; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "A total of 1,183 T2D cases were selected from population-based 'Health2 cohort'." . _:39d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "Health2 cohort recruited a total of 8,500 participants aged 40-69 years from five regional cities in Korea based on the Korean Genome Epidemiologic Study (KoGES) project." . _:39d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "A total of 1,183 T2D cases were selected from population-based 'Health2 cohort'." . _:39d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22158537"; "Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians."; "PMID:22158537", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3582398/unicode"; rdfs:comment "Stage 2 subjects included 5,843 cases and 4,574 controls from three independent GWA studies including the BioBank Japan Study (BBJ), the Health2 T2D Study (H2T2DS) and the Shanghai Jiao Tong University Diabetes Study (SJTUDS) for in silico replication analysis." . _:39d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control sample of Korean adults contributed by the Korea National Institute of Health to the Asian Genetic Epidemiology Network's type 2 diabetes meta-analysis. Its cases, with type 2 diabetes of onset at age 40 or older, were drawn from the population-based Health2 cohort of the Korean Genome and Epidemiology Study; its controls, without diabetes or anti-diabetic medication and with normal fasting glucose, came partly from the Health2 cohort (those older than 60 with a normal oral glucose tolerance test) and partly from the Health Examinee (HEXA) shared control study. It was genotyped genome-wide on the Affymetrix Genome-Wide Human SNP Array 6.0."; "PMID:22158537", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1183; "type 2 diabetes cases and controls of the study in the AGEN-T2D stage 2 replication (2012 report)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "KNIH H2T2DS Korean 1183 1305 2488 Population-based" . _:39da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1305; "type 2 diabetes cases and controls of the study in the AGEN-T2D stage 2 replication (2012 report)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "KNIH H2T2DS Korean 1183 1305 2488 Population-based" . _:39db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2488; "type 2 diabetes cases and controls of the study in the AGEN-T2D stage 2 replication (2012 report)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "KNIH H2T2DS Korean 1183 1305 2488 Population-based" . _:39dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "H2T2DS"; . _:39dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HT2DS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16344; , ; ; "PGS000004", "PMID:29058716"; "A hospital-based case-control study of breast cancer at Hannover Medical School, Germany, whose cases are women who received radiotherapy for breast cancer there between 1995 and 2003 and whose controls are female blood donors at the same school, collected in 2005."; 1000; 950; "HABCS", "Hannover breast cancer study"; ; rdfs:label "Hannover Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16344 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16344; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "HABCS Hannover Breast Cancer Study 22 Germany Cases who received radiotherapy for breast cancer at Hannover Medical School 1995-2003 Female blood bank donors at Hannover Medical School, collected in 2005" . _:39df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "HABCS Hannover Breast Cancer Study 22 Germany Cases who received radiotherapy for breast cancer at Hannover Medical School 1995-2003 Female blood bank donors at Hannover Medical School, collected in 2005" . _:39e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:39e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5808456/unicode"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:39e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer at Hannover Medical School, Germany, whose cases are women who received radiotherapy for breast cancer there between 1995 and 2003 and whose controls are female blood donors at the same school, collected in 2005."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HABCS Hannover Breast Cancer Study111 Hospital-based case-control study Germany 950 1000 865 916 0 0" . _:39e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 950; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HABCS Hannover Breast Cancer Study111 Hospital-based case-control study Germany 950 1000 865 916 0 0" . _:39e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HABCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16353; , , ; "PMID:38469817"; "A randomized, multi-center, open-label clinical trial in the Republic of Korea, registered as KCT0005414, that compared the safety and efficacy of afatinib alone with afatinib combined with HAD-B1 (HangAmDan-B1), a traditional Korean medicine herbal formulation, in patients with locally advanced or metastatic EGFR-mutation-positive non-small cell lung cancer enrolled at six centres, and ran from February 2021 to April 2023."; 90; "HAD-B1-IIT", "HangAmDan-B1-Investigator Initiated Trial study"; rdfs:label "HangAmDan-B1-Investigator Initiated Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16353 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16353; "EGFR-mutation-positive non-small cell lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11301725/fullTextXML"; rdfs:comment "The clinical trial is a randomized, multi-center, open-label study to compare the safety and efficacy of HAD-B1 combined with afatinib therapy for patients with locally advanced or metastatic EGFR-mutation-positive NSCLC." . _:39e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11301725/fullTextXML"; rdfs:comment "The 90 patients with EGFR-mutation-positive locally advanced or metastatic NSCLC requiring afatinib therapy were enrolled from 6 centers, which are the Daejeon Korean Medicine University, Kosin University Gospel Hospital, Pusan National University, Yangsan Hospital, Konyang University Hospital, Catholic University of Korea Seoul St. Mary’s Hospital, and Ajou Universtity." . _:39e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38469817"; "Genome-wide Analysis Identified SEMA4D, Novel Candidate Gene for Temperature Sensitivity in Patients With Non-Small Cell Lung Cancer."; "PMID:38469817", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10935759/fullTextXML"; rdfs:comment "Ninety patients were enrolled in the HangAmDan-B1-Investigator Initiated Trial (HAD-B1-IIT) study, which was a randomized, multicenter, open-label study for the comparison of the safety and efficacy of afatinib monotherapy and that of the combination therapy of afatinib and HAD-B1 for patients with locally advanced NSCLC and EGFR mutations." . _:39e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, multi-center, open-label clinical trial in the Republic of Korea, registered as KCT0005414, that compared the safety and efficacy of afatinib alone with afatinib combined with HAD-B1 (HangAmDan-B1), a traditional Korean medicine herbal formulation, in patients with locally advanced or metastatic EGFR-mutation-positive non-small cell lung cancer enrolled at six centres, and ran from February 2021 to April 2023."; "PMID:38469817", "PMID:39103991"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 90; "patients with EGFR-mutation-positive advanced NSCLC enrolled and randomised, February 2021 to December 2022 (2021-2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11301725/fullTextXML"; rdfs:comment "In this clinical trial, 90 subjects were enrolled." . _:39eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAD-B1-IIT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16360; , ; "PMID:22426144"; "A hospital-based case-control study of endometrial cancer in Kazakhstan, whose own investigators genotyped its samples with TaqMan assays for the final replication stage of a 2012 genome-wide association study of endometrial cancer, and whose data were used again in a 2013 study of inflammation pathway genes and endometrial cancer risk."; 218; 232; "HAECS"; rdfs:label "Hannover-Almaty Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16360 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16360; "endometrial cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "Hannover-AlmatyEndometrial CancerStudy HAECS Kazakhstan; Hospital-based, case-controlstudy 218 232 Taqman" . _:39ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "HAECS Kazakhstan; Hospital-based" . _:39ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22426144"; "Genome-wide association study identifies a possible susceptibility locus for endometrial cancer."; "PMID:22426144", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3372671/"; rdfs:comment "The final replication stage (Stage 3b) included 5,936 cases and 8,166 controls from the Bavarian Endometrial Cancer Study (BECS), Connecticut Endometrial Cancer Study (CECS), Hannover-Almaty Endometrial Cancer Study (HAECS)" . _:39ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of endometrial cancer in Kazakhstan, whose own investigators genotyped its samples with TaqMan assays for the final replication stage of a 2012 genome-wide association study of endometrial cancer, and whose data were used again in a 2013 study of inflammation pathway genes and endometrial cancer risk."; "PMID:22426144", "PMID:23221126"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 218; "Cases and controls analysed in the 2013 inflammation-pathway study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "Hannover-AlmatyEndometrial CancerStudy HAECS Kazakhstan; Hospital-based, case-controlstudy 218 232 Taqman" . _:39f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 232; "Cases and controls analysed in the 2013 inflammation-pathway study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "Hannover-AlmatyEndometrial CancerStudy HAECS Kazakhstan; Hospital-based, case-controlstudy 218 232 Taqman" . _:39f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAECS"; . a owl:NamedIndividual, ; , , ; "PMID:27495061"; "A population-based longitudinal study of ageing, established and funded by the National Health Research Institutes in Taiwan, which in 2009–2013 enrolled community-dwelling adults aged 55 and above, systematically sampled from household registries around a regional hospital in each of seven areas in northern, central, southern and eastern Taiwan, and follows them with home interviews and hospital-based clinical examinations with blood and urine collection every five years and annual telephone contacts, to study physical functioning, chronic and cardiovascular disease, neuropsychiatric health, and genetic and environmental factors in frailty and successful ageing."; 5664; "HALST", "healthy aging longitudinal study in Taiwan"; rdfs:label "Healthy Aging Longitudinal Study in Taiwan"@en . _:39f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837206/fullTextXML"; rdfs:comment "The HALST is designed as a longitudinal study recruiting community-dwellers aged 55 and above in seven selected areas in Taiwan: two in the north (Shilin District and Yangmei Township), two in the central region (Miaoli City and Changhua City), two in the south (Puzi Township and Lingya District) and one in the east (Hualien)." . _:39f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27495061"; "Association of depression and psychotropic medication on cardiac-related outcomes in a nationwide community-dwelling elderly population in Taiwan."; "PMID:27495061", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4979815/fullTextXML"; rdfs:comment "In this study, we investigated the association of depression and psychotropic medication and mental illness, individually, with cardiovascular disease in an elderly Asian study population from the Healthy Aging Longitudinal Study in Taiwan (HALST), a cross-sectional community-dwelling cohort of older adults in Taiwan." . _:39f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal study of ageing, established and funded by the National Health Research Institutes in Taiwan, which in 2009–2013 enrolled community-dwelling adults aged 55 and above, systematically sampled from household registries around a regional hospital in each of seven areas in northern, central, southern and eastern Taiwan, and follows them with home interviews and hospital-based clinical examinations with blood and urine collection every five years and annual telephone contacts, to study physical functioning, chronic and cardiovascular disease, neuropsychiatric health, and genetic and environmental factors in frailty and successful ageing."; "PMID:28369534"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5664; "community-dwellers aged 55 or above enrolled in the first-wave survey, 2009-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837206/fullTextXML"; rdfs:comment "In the first-wave survey (2009–13), we enrolled 5664 community-dwellers aged 55 or above." . _:39f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HALST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16373, _:genid-371333f489424440b12a13b9d98ced822608-genid16375, _:genid-371333f489424440b12a13b9d98ced822608-genid16377; , ; ; "PGS004864", "PMID:18440328"; "A study of relatively healthy adults, aged 20 or over and from large families, of the Old Order Amish of Lancaster County, Pennsylvania, initiated in 2002 to measure cardiovascular responses to four short-term interventions (a cold pressor stress test, a high-salt diet, a high-fat challenge and aspirin therapy) and to identify the genetic and environmental determinants of these responses."; 868; "Amish HAPI Heart Study", "Amish Heredity and Phenotype Intervention (HAPI) Heart Study", "Amish Heredity and Phenotype Intervention Heart Study", "HAPI", "HAPI Heart Study", "Heredity and Phenotype Intervention (HAPI) Heart Study"; ; rdfs:label "Heredity and Phenotype Intervention Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16373 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16375 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:39f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16373; "high salt diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18440328+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The measurements included blood pressure responses to the cold pressor stress test and to a high salt diet, triglyceride excursion in response to a high-fat challenge, and response in platelet aggregation to aspirin therapy." . _:39f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16375; "high-fat challenge"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18440328+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The measurements included blood pressure responses to the cold pressor stress test and to a high salt diet, triglyceride excursion in response to a high-fat challenge, and response in platelet aggregation to aspirin therapy." . _:39fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16377; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18440328+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HAPI Heart Study was initiated in 2002 to measure the cardiovascular response to 4 short-term interventions affecting cardiovascular risk factors and to identify the genetic and environmental determinants of these responses." . _:39fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s42003-022-03291-2"; rdfs:comment "The Old Order Amish (OOA) population of Lancaster County, PA immigrated to the Colonies from Central Europe in the early 1700’s." . _:39fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004864"; "Polygenic risk score for predicting weight loss after bariatric surgery."; "PMID:30185664" . _:39fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18440328"; "The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study."; "PMID:18440328", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18440328+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HAPI Heart Study was initiated in 2002 to measure the cardiovascular response to 4 short-term interventions affecting cardiovascular risk factors and to identify the genetic and environmental determinants of these responses." . _:39fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of relatively healthy adults, aged 20 or over and from large families, of the Old Order Amish of Lancaster County, Pennsylvania, initiated in 2002 to measure cardiovascular responses to four short-term interventions (a cold pressor stress test, a high-salt diet, a high-fat challenge and aspirin therapy) and to identify the genetic and environmental determinants of these responses."; "PMID:18440328", "https://www.nature.com/articles/s42003-022-03291-2"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:39ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 868; "HAPI participants remaining after refusal, ineligibility and pre-intervention withdrawal"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2443415/"; rdfs:comment "Twelve eligible and consented individuals withdrew prior to completing any of the interventions, leaving a final sample size of 868 participants (Figure I)." . _:3a002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAPI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16385; , ; ; "PMID:19198609"; "A population-based case-control study of early-onset myocardial infarction in King, Pierce and Snohomish counties, Washington, United States, whose cases were men under 50 and women under 60 with a first myocardial infarction diagnosed between 1991 and 2002, ascertained through medical record review at all acute care facilities in those counties, and whose controls, matched on age and sex and free of cardiovascular disease, were identified by random digit dialling in the same counties; it is one of the six studies of the Myocardial Infarction Genetics Consortium."; 505; 559; "HARPS"; rdfs:label "Heart Attack Risk in Puget Sound"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16385 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16385; "early-onset myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "HARPS2 is a population-based case-control study of cases of early-onset MI and controls matched on age and sex." . _:3a022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "Cases were ascertained through medical record review at all acute care facilities in King, Pierce, and Snohomish counties, Washington, US." . _:3a032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19198609"; "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants."; "PMID:19198609", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3a042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of early-onset myocardial infarction in King, Pierce and Snohomish counties, Washington, United States, whose cases were men under 50 and women under 60 with a first myocardial infarction diagnosed between 1991 and 2002, ascertained through medical record review at all acute care facilities in those counties, and whose controls, matched on age and sex and free of cardiovascular disease, were identified by random digit dialling in the same counties; it is one of the six studies of the Myocardial Infarction Genetics Consortium."; "PMID:19198609", "PMID:21239051"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 505; "Stage 1 early-onset MI genetic analysis sample in MIGen 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2681011/"; rdfs:comment "Study Italian ATVB Study Heart Attack Risk in Puget Sound REGICOR MGH Premature Coronary Artery Disease Study FINRISK Malmö Diet and Cancer Study cases controls cases controls cases controls cases controls cases controls cases controls N 1,693 1,668 505 559 312 317 204 260 167 172 86 99" . _:3a062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 559; "Stage 1 early-onset MI genetic analysis sample in MIGen 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2681011/"; rdfs:comment "Study Italian ATVB Study Heart Attack Risk in Puget Sound REGICOR MGH Premature Coronary Artery Disease Study FINRISK Malmö Diet and Cancer Study cases controls cases controls cases controls cases controls cases controls cases controls N 1,693 1,668 505 559 312 317 204 260 167 172 86 99" . _:3a072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HARPS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. HBCP is the 2007 name of the Helsinki Breast Cancer Study: the breast cancer GWAS of PMID:17529967 lists 'Helsinki Breast Cancer Project HBCP' and acknowledges the Helsinki Breast Cancer Study under the grant later papers give for HEBCS. Replaced by COHO:0001849 (Helsinki Breast Cancer Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Helsinki Breast Cancer Project"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16393; , ; "PMID:11507694"; "A publicly available collection of DNA samples and immortalized cell lines from families with type 1 diabetes, chiefly multiplex families and largely from the United States, built up from 1990 by the Human Biological Data Interchange in Philadelphia from pedigrees obtained through questionnaires sent to members of the Juvenile Diabetes Foundation, and used in genetic linkage and association studies of type 1 diabetes."; "HBDI", "HBDI collection", "HBDI repository", "Human Biological Data Interchange", "U.S.A. Human Biological Data Interchange"; rdfs:label "Human Biological Data Interchange Repository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16393 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16393; "type 1 diabetes"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1226067/"; rdfs:comment "Two collections of DNA samples from families with T1D are publicly available for genetic linkage studies, the Diabetes UK Warren 1 repository of samples from the United Kingdom and the HBDI collection of samples largely from the United States." . _:3a092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1226067/"; rdfs:comment "Two collections of DNA samples from families with T1D are publicly available for genetic linkage studies, the Diabetes UK Warren 1 repository of samples from the United Kingdom and the HBDI collection of samples largely from the United States." . _:3a0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:11507694"; "Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families."; "PMID:11507694", "https://pmc.ncbi.nlm.nih.gov/articles/PMC1226067/"; rdfs:comment "The families were drawn from the Human Biological Data Interchange (HBDI) repository (N=389) (Lernmark et al. 1990), the Diabetes UK Warren I repository (N=356) (Bain et al. 1990), and the Children’s Hospital of Philadelphia (CHOP) (N=22)." . _:3a0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A publicly available collection of DNA samples and immortalized cell lines from families with type 1 diabetes, chiefly multiplex families and largely from the United States, built up from 1990 by the Human Biological Data Interchange in Philadelphia from pedigrees obtained through questionnaires sent to members of the Juvenile Diabetes Foundation, and used in genetic linkage and association studies of type 1 diabetes."; "PMID:11507694", "PMID:20595243", "PMID:2239968", "PMID:9326346"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBDI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16399, _:genid-371333f489424440b12a13b9d98ced822608-genid16401; , ; ; "PGS000903", "PMID:31701892"; "A longitudinal biomarker cohort study run jointly by Brigham and Women's Hospital and Massachusetts General Hospital in Boston, following patients with Parkinson's disease, patients with other neurodegenerative diseases and healthy controls at structured in-person study visits with biobanked samples, to accelerate the discovery and validation of molecular diagnostic and progression markers of early-stage Parkinson's disease."; 933; 291; "HBS", "Harvard Biomarker Study", "Harvard NeuroDiscovery Center Biomarker Study"; ; rdfs:label "Harvard Biomarkers Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16399 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16401 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16399; "Alzheimer's disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3337217/"; rdfs:comment "HBS is a Harvard-wide, longitudinal, case-control study designed to accelerate the discovery and validation of molecular diagnostics that track or predict progression of early-stage PD and Alzheimer’s disease (AD)." . _:3a0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16401; "Parkinson's disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3337217/"; rdfs:comment "HBS is a Harvard-wide, longitudinal, case-control study designed to accelerate the discovery and validation of molecular diagnostics that track or predict progression of early-stage PD and Alzheimer’s disease (AD)." . _:3a0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00847-6/MediaObjects/41588_2021_847_MOESM1_ESM.pdf"; rdfs:comment "HBS (USA) Dementia was defined using operationalized level 1 MDS dementia criteria" . _:3a102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000903"; "Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies."; "PMID:31701892" . _:3a112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31701892"; "Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies."; "PMID:31701892", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8422160/unicode"; rdfs:comment "To determine the proportion of SNP-based heritability explained by our PD GWAS results using PRS, we used a two-stage design, with variant selection and training in the NeuroX-dbGaP dataset (5,851 cases and 5,866 controls) and then validation in the Harvard Biomarker Study (HBS, 527 cases and 472 controls)." . _:3a122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal biomarker cohort study run jointly by Brigham and Women's Hospital and Massachusetts General Hospital in Boston, following patients with Parkinson's disease, patients with other neurodegenerative diseases and healthy controls at structured in-person study visits with biobanked samples, to accelerate the discovery and validation of molecular diagnostic and progression markers of early-stage Parkinson's disease."; "PMID:32250320", "PMID:38480700", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8060834/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 933; "Parkinson's disease cases and controls in the 2026 health-phenome analysis (analysed subset; no total for the whole study stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42579898+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our objective is to evaluate the complexity of features associated with PD in a study of 933 cases and 291 controls in the Harvard Biomarkers Study." . _:3a142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 291; "Parkinson's disease cases and controls in the 2026 health-phenome analysis (analysed subset; no total for the whole study stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42579898+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our objective is to evaluate the complexity of features associated with PD in a study of 933 cases and 291 controls in the Harvard Biomarkers Study." . _:3a152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16410; , ; "PGS003850", "PMID:37783704"; "A population-based study of men and women over 21 years of age who self-identified as Hispanic and had a first diagnosis of colorectal cancer after 1 January 2008, identified through the California Cancer Registry or directly from hospitals in the Los Angeles region (LAC + USC County Hospital and the USC Norris Comprehensive Cancer Center), from whom risk-factor and dietary questionnaires, pathology reports and saliva samples for genotyping were collected."; 950; "HCCS"; ; rdfs:label "Hispanic Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16410 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16410; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "The Hispanic Colorectal Cancer Study (HCCS) is a population-based study of individuals self-identified as Hispanic with a diagnosis of CRC." . _:3a172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "Cases were identified from the California Cancer Registry or directly from local hospitals in the Los Angeles region [LAC + USC County Hospital and University of Southern California (USC) Norris Comprehensive Cancer Center]." . _:3a182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003850"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704" . _:3a192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37783704"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "The Hispanic Colorectal Cancer Study (HCCS) is a population-based study of individuals self-identified as Hispanic with a diagnosis of CRC." . _:3a1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of men and women over 21 years of age who self-identified as Hispanic and had a first diagnosis of colorectal cancer after 1 January 2008, identified through the California Cancer Registry or directly from hospitals in the Los Angeles region (LAC + USC County Hospital and the USC Norris Comprehensive Cancer Center), from whom risk-factor and dietary questionnaires, pathology reports and saliva samples for genotyping were collected."; "PMID:37783704"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 950; "HCCS cases contributed to the 2023 genetic analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; rdfs:comment "The present study includes 950 cases recruited into the HCCS who were born in Mexico (42.3%), the USA (31.4%), Central/South America (16.6%), Cuba or the Caribbean Islands (1.8%) or Europe (0.4%)." . _:3a1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16418; , , ; ; ; "PGS002742", "PMID:24836286"; "The colorectal cancer arm of the Hwasun Cancer Epidemiology Study, a hospital-based case-control study of multiple cancers in South Korea. Its cases are patients newly diagnosed with colorectal cancer at Chonnam National University Hwasun Hospital, a cancer hospital in Jeollanam-do province, between April 2004 and February 2013, excluding secondary or recurrent cancers, and its controls are participants in the Korean Community Health Survey in Jindo and Bosung counties of Jeollanam-do in 2010 to 2012."; 3378; 4552; "HCES-CRC", "Hwasun Cancer Epidemiology Study–Colon and Rectum Cancer"; ; rdfs:label "Hwasun Cancer Epidemiology Study-Colon and Rectum Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16418 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16418; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "Cases were newly diagnosed patients with CRC at Chonnam National University Hwasun Hospital, a cancer-specific hospital in Jeollanam-do province, South Korea, between April 2004 and February 2013." . _:3a1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "Cases were newly diagnosed patients with CRC at Chonnam National University Hwasun Hospital, a cancer-specific hospital in Jeollanam-do province, South Korea, between April 2004 and February 2013." . _:3a1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES is a hospital-based case-control study conducted in South Korea that includes multiple cancers 13, 14 . The HCES-CRC consisted of 3,378 cases and 4,552 controls who were included in stage 4 of this project." . _:3a202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002742"; "Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians."; "PMID:35765848" . _:3a212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24836286"; "Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk."; "PMID:24836286", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES-CRC consisted of 3,378 cases and 4,552 controls who were included in stage 4 of this project." . _:3a222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The colorectal cancer arm of the Hwasun Cancer Epidemiology Study, a hospital-based case-control study of multiple cancers in South Korea. Its cases are patients newly diagnosed with colorectal cancer at Chonnam National University Hwasun Hospital, a cancer hospital in Jeollanam-do province, between April 2004 and February 2013, excluding secondary or recurrent cancers, and its controls are participants in the Korean Community Health Survey in Jindo and Bosung counties of Jeollanam-do in 2010 to 2012."; "PMID:24836286"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3378; "HCES-CRC cases and controls contributed to stage 4 of the 2014 ACCC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES-CRC consisted of 3,378 cases and 4,552 controls who were included in stage 4 of this project." . _:3a242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4552; "HCES-CRC cases and controls contributed to stage 4 of the 2014 ACCC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES-CRC consisted of 3,378 cases and 4,552 controls who were included in stage 4 of this project." . _:3a252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCES-CRC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. HCSC is the Hospital Clínico San Carlos, a university hospital in Madrid, Spain. The PGS Catalog uses the id for two different contributions of that hospital: its breast cancer cases and controls in the Breast Cancer Association Consortium (BCAC, COHO:0000020), and its BRCA1/2 mutation carriers in CIMBA (COHO:0000901). In both, the papers name the sample only after the hospital ('HCSC Hospital Clinico San Carlos'; 'Hospital Clinico San Carlos (HCSC)') and describe no study design, recruitment period or study name, so the id is an institution label, as the review decided for the other institution-named CIMBA sites (BIDMC, UPENN, MSKCC, Chicago). If the curator ever mints BCAC or CIMBA site samples, this id would need two terms, one per consortium. No COHO term uses HCSC or the hospital's name. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Hospital Clinico San Carlos"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. HDAAM is the dbGaP study 'High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation' (phs000187), under which the MD Anderson melanoma GWAS deposited its data (PMID:21926416). Replaced by COHO:0000875 (MD Anderson Cancer Center melanoma study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete High Density SNP Association Analysis of Melanoma"@en; owl:deprecated true . a owl:NamedIndividual, ; ; , , ; ; ; "PGS000770", "PMID:25349825"; "A population-based cohort of the Korean Genome and Epidemiology Study (KoGES), set up by the Center for Genome Science of the Korea National Institute of Health, made up of community-based cohorts of adults aged 40–69 in five rural areas of South Korea (Wonju, Pyeongchang, Gangneung, Geumsan and Naju), and later counted as part of the KoGES Cardiovascular Disease Association Study (CAVAS). It served as a replication and case-control sample in Korean genetic association studies of type 2 diabetes, blood pressure, lipids and blood cell traits."; 8500; "Health 2", "Health2", "Health2 cohort", "Health2 project", "Health2 study"; ; rdfs:label "Health2 Study"@en . _:3a262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4330258/fullTextXML"; rdfs:comment "Subjects for the replication study were recruited from the Health2 cohorts, another population-based cohort comprising the Wonju, Pyeongchang, Gangneung, Geumsan, and Naju regions in Korea." . _:3a272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11266026/fullTextXML"; rdfs:comment "the CArdioVascular disease Association Study (CAVAS) cohort (formerly Health2 or RURAL cohort) (Cho et al., 2009)" . _:3a282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:3a292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25349825"; "Genome-wide association study identifies two novel Loci with sex-specific effects for type 2 diabetes mellitus and glycemic traits in a korean population."; "PMID:25349825", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4209352/fullTextXML"; rdfs:comment "Stage 2 subjects for the replication study were selected from another population-based cohort, Health2 cohort, which consisted of a total of 8,500 participants aged 40 to 69 years from five regional cities in Korea [20]." . _:3a2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of the Korean Genome and Epidemiology Study (KoGES), set up by the Center for Genome Science of the Korea National Institute of Health, made up of community-based cohorts of adults aged 40–69 in five rural areas of South Korea (Wonju, Pyeongchang, Gangneung, Geumsan and Naju), and later counted as part of the KoGES Cardiovascular Disease Association Study (CAVAS). It served as a replication and case-control sample in Korean genetic association studies of type 2 diabetes, blood pressure, lipids and blood cell traits."; "PMID:25349825", "PMID:25705162", "PMID:28154504", "PMID:33374401", "PMID:39050255", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8500; "participants aged 40-69 recruited from five regional cities (rural areas) of Korea"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "Health2 cohort recruited a total of 8,500 participants aged 40-69 years from five regional cities in Korea based on the Korean Genome Epidemiologic Study (KoGES) project." . _:3a2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Health2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16435; , ; , , ; "PGS001778", "PMID:25526632"; "A hospital-based breast cancer case-control study at Helsinki University Central Hospital in southern Finland, whose cases are consecutive, unselected breast cancer patients from the hospital's Departments of Oncology (1997-1998 and 2000) and Surgery (2001-2004) together with familial breast cancer patients from its Departments of Oncology and Clinical Genetics (from 1995), and whose controls are healthy women from the same region."; 2391; 1258; "HBCP", "HEBCS", "Helsinki Breast Cancer Project"; ; rdfs:label "Helsinki Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16435 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16435; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "Familial breast cancer patients (536) from the Helsinki University Central Hospital, Departments of Oncology and Clinical Genetics (1995-)" . _:3a2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "HEBCS Helsinki Breast Cancer Study Finland (1) Consecutive cases (883) from the Department of Oncology, Helsinki University Central Hospital 1997-8 and 2000, (2) Consecutive cases (986) from the Department of Surgery, Helsinki University Central Hospital 2001 – 2004, (3) Familial breast cancer patients (536) from the Helsinki University Central Hospital, Departments of Oncology and Clinical Genetics (1995-) Healthy females from the same geographical region in Southern Finland in 2003." . _:3a2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:3a302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25526632"; "A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis."; "PMID:25526632", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25526632+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cox-proportional hazard models were used to estimate hazard ratios (HR) in 536 patients from the POSH cohort (Prospective study of Outcomes in Sporadic versus Hereditary breast cancer) and 805 patients from the HEBCS cohort (Helsinki Breast Cancer Study)." . _:3a312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based breast cancer case-control study at Helsinki University Central Hospital in southern Finland, whose cases are consecutive, unselected breast cancer patients from the hospital's Departments of Oncology (1997-1998 and 2000) and Surgery (2001-2004) together with familial breast cancer patients from its Departments of Oncology and Clinical Genetics (from 1995), and whose controls are healthy women from the same region."; "PMID:22267197", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2391; "Helsinki unselected and familial cases and healthy female controls genotyped in the 2017 FANCM analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5645429/fullTextXML"; rdfs:comment "The FANCM c.5791C>T mutation was genotyped in 2391 breast cancer cases (including unselected and familial patients) and 1258 healthy female population controls from the Helsinki area." . _:3a332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1258; "Helsinki unselected and familial cases and healthy female controls genotyped in the 2017 FANCM analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5645429/fullTextXML"; rdfs:comment "The FANCM c.5791C>T mutation was genotyped in 2391 breast cancer cases (including unselected and familial patients) and 1258 healthy female population controls from the Helsinki area." . _:3a342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HBCP"; . _:3a352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HEBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16445, _:genid-371333f489424440b12a13b9d98ced822608-genid16447; , ; ; "PGS000004", "PMID:29937543"; "An ongoing nationwide retrospective cohort study with prospective follow-up of members of families carrying BRCA1 or BRCA2 mutations in the Netherlands, begun in 1999, whose participants are invited once they learn their carrier status through clinical genetic testing at the Dutch university medical centres and family cancer clinics. It is run by the Hereditary Breast and Ovarian Cancer Research Group Netherlands, coordinated by the Netherlands Cancer Institute in Amsterdam, and collects data through questionnaires, medical records and linkage with the Netherlands Cancer Registry."; 1120; "HEBON", "HEBON study", "Hereditary Breast and Ovarian Cancer Research Group Netherlands", "Hereditary Breast and Ovarian Study Netherlands", "Hereditary Breast and Ovarian cancer study, the Netherlands"; ; rdfs:label "Hereditary Breast and Ovarian cancer study in the Netherlands"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16445 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16447 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16445; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6068188/fullTextXML"; rdfs:comment "The HEBON study (initiated in 1999) is an ongoing nationwide retrospective cohort study among members of BRCA1/2 mutation families with prospective follow-up.21 Participants were invited into the study after they became aware of their mutation carrier status through a clinical genetic test." . _:3a372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16447; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6068188/fullTextXML"; rdfs:comment "The HEBON study (initiated in 1999) is an ongoing nationwide retrospective cohort study among members of BRCA1/2 mutation families with prospective follow-up.21 Participants were invited into the study after they became aware of their mutation carrier status through a clinical genetic test." . _:3a382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6068188/fullTextXML"; rdfs:comment "Our study population was derived from two sources: the Dutch HEBON study (Hereditary Breast and Ovarian cancer study, the Netherlands) and the national PGD registry." . _:3a392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients."; "PMID:36271417" . _:3a3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29937543"; "Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers."; "PMID:29937543", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6068188/fullTextXML"; rdfs:comment "The HEBON study (initiated in 1999) is an ongoing nationwide retrospective cohort study among members of BRCA1/2 mutation families with prospective follow-up.21 Participants were invited into the study after they became aware of their mutation carrier status through a clinical genetic test." . _:3a3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing nationwide retrospective cohort study with prospective follow-up of members of families carrying BRCA1 or BRCA2 mutations in the Netherlands, begun in 1999, whose participants are invited once they learn their carrier status through clinical genetic testing at the Dutch university medical centres and family cancer clinics. It is run by the Hereditary Breast and Ovarian Cancer Research Group Netherlands, coordinated by the Netherlands Cancer Institute in Amsterdam, and collects data through questionnaires, medical records and linkage with the Netherlands Cancer Registry."; "PMID:29937543", "PMID:36271417"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1120; "Initial HEBON BRCA1/2-carrier questionnaire cohort described in the 2009 report"; "https://doi.org/10.1007/s10549-009-0476-0"; rdfs:comment "The initial cohort consisted of 1,120 BRCA1/2 mutation carriers (response 80%; among proxies 76%)." . _:3a3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HEBON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16455; , ; ; "PMID:22426144"; "A population-based case-control study of endometrial cancer in Hawaii, United States, whose cases were ascertained between 1988 and 1993 and whose controls were matched to them on age and ethnicity, with mainly non-white participants. It is one of the studies of the Epidemiology of Endometrial Cancer Consortium (E2C2), and its samples were genotyped at Vanderbilt University for the final replication stage of a 2012 genome-wide association study of endometrial cancer."; "The acronym HAW also denotes Hawaii Ovarian Cancer Study (COHO:0001870); this term is Hawaii Endometrial Cancer Study."@en; 168; 574; "HAW", "HECS"; rdfs:label "Hawaii Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16455 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16455; "endometrial cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "Hawaii EndometrialCancer Study HECS Hawaii, USA;Population-based,case-control study 168 574 Sequenom" . _:3a3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3035652"; rdfs:comment "HAW (Hawaii Endometrial Cancer Study) Hawaii, USA Population-based case-control" . _:3a402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22426144"; "Genome-wide association study identifies a possible susceptibility locus for endometrial cancer."; "PMID:22426144", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3372671/"; rdfs:comment "The final replication stage (Stage 3b) included 5,936 cases and 8,166 controls from the Bavarian Endometrial Cancer Study (BECS), Connecticut Endometrial Cancer Study (CECS), Hannover-Almaty Endometrial Cancer Study (HAECS), Hawaii Endometrial Cancer Study (HECS)" . _:3a412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of endometrial cancer in Hawaii, United States, whose cases were ascertained between 1988 and 1993 and whose controls were matched to them on age and ethnicity, with mainly non-white participants. It is one of the studies of the Epidemiology of Endometrial Cancer Consortium (E2C2), and its samples were genotyped at Vanderbilt University for the final replication stage of a 2012 genome-wide association study of endometrial cancer."; "PMID:21347432", "PMID:22426144", "PMID:23221126", "PMID:23733771", "PMID:25688738"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 168; "Cases and controls analysed in the 2013 inflammation-pathway study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "Hawaii EndometrialCancer Study HECS Hawaii, USA;Population-based,case-control study 168 574 Sequenom" . _:3a432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 574; "Cases and controls analysed in the 2013 inflammation-pathway study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677562/"; rdfs:comment "Hawaii EndometrialCancer Study HECS Hawaii, USA;Population-based,case-control study 168 574 Sequenom" . _:3a442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAW"; . _:3a452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16464, _:genid-371333f489424440b12a13b9d98ced822608-genid16466, _:genid-371333f489424440b12a13b9d98ced822608-genid16468; , , , , , , , , , ; "PMID:37608495"; "A multicentre cross-sectional study of adolescents aged 12.5 to 17.5 years in ten European cities (Stockholm, Athens, Heraklion, Rome, Zaragoza, Ghent, Lille, Dortmund, Vienna and Pecs), carried out from October 2006 to December 2007 within the European Union-funded HELENA project, which selected adolescents through randomly chosen schools by multi-stage random cluster sampling stratified by geographical location, age and socioeconomic status, and measured diet, physical activity, fitness and body composition with harmonised methods, with fasting blood samples from a randomly selected subsample, to describe the nutritional status and lifestyle of European adolescents."; 3528; "HELENA", "HELENA Cross-Sectional Study", "HELENA Study", "HELENA cross-sectional study", "HELENA study", "HELENA-CSS", "Healthy Lifestyle in Europe by Nutrition in Adolescence Cross-Sectional Study", "Healthy Lifestyle in Europe by Nutrition in Adolescence study"; rdfs:label "Healthy Lifestyle in Europe by Nutrition in Adolescence Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16464 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16466 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16468 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16464; "eating habits"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17617932+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Assessing, understanding and modifying nutritional status, eating habits and physical activity in European adolescents: the HELENA (Healthy Lifestyle in Europe by Nutrition in Adolescence) Study." . _:3a472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16466; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17617932+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Assessing, understanding and modifying nutritional status, eating habits and physical activity in European adolescents: the HELENA (Healthy Lifestyle in Europe by Nutrition in Adolescence) Study." . _:3a482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16468; "nutritional status"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17617932+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Assessing, understanding and modifying nutritional status, eating habits and physical activity in European adolescents: the HELENA (Healthy Lifestyle in Europe by Nutrition in Adolescence) Study." . _:3a492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19700434+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A sample of 3428 adolescents (1845 girls) aged 12.5-17.49 years from 10 European cities in Austria, Belgium, France, Germany, Greece (an inland city and an island city), Hungary, Italy, Spain and Sweden was assessed in the Healthy Lifestyle in Europe by Nutrition in Adolescence study between 2006 and 2008." . _:3a4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37608495"; "The body mass index increases the genetic risk scores' ability to predict risk of hepatic damage in European adolescents: The HELENA study."; "PMID:37608495", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37608495+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 972 adolescents (51.3% females), aged 12.5-17.5 years, from the Healthy Lifestyle in Europe by Nutrition in Adolescence study were included in the analyses." . _:3a4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre cross-sectional study of adolescents aged 12.5 to 17.5 years in ten European cities (Stockholm, Athens, Heraklion, Rome, Zaragoza, Ghent, Lille, Dortmund, Vienna and Pecs), carried out from October 2006 to December 2007 within the European Union-funded HELENA project, which selected adolescents through randomly chosen schools by multi-stage random cluster sampling stratified by geographical location, age and socioeconomic status, and measured diet, physical activity, fitness and body composition with harmonised methods, with fasting blood samples from a randomly selected subsample, to describe the nutritional status and lifestyle of European adolescents."; "PMID:17617932", "PMID:19011652", "PMID:23148760", "PMID:25609179"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3528; "adolescents aged 12.5-17.5 selected by multi-stage random cluster sampling in ten European cities, October 2006 to December 2007 (2006-2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4334414/fullTextXML"; rdfs:comment "A multi-stage random cluster sampling procedure was used to select 3528 adolescents, stratified by geographical location, age and socioeconomic status (SES)." . _:3a4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELENA"; . _:3a4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELENA-CSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16476, _:genid-371333f489424440b12a13b9d98ced822608-genid16478, _:genid-371333f489424440b12a13b9d98ced822608-genid16480, _:genid-371333f489424440b12a13b9d98ced822608-genid16482; , ; ; "PGS003762", "PMID:24993387"; "A population-based, multidisciplinary longitudinal study of older adults in Greece, randomly selected at age 65 or over from the municipality registries of Marousi, a suburb of Athens, and of the city of Larissa and its rural surroundings, with baseline evaluations from 2011 to 2015 and follow-up evaluations thereafter, designed to estimate the prevalence and incidence of Alzheimer's disease, other dementias, mild cognitive impairment and other neuropsychiatric conditions of ageing and to study their associations with nutrition in this Mediterranean population."; 1986; "HELIAD"; ; rdfs:label "Hellenic Longitudinal Investigation of Aging and Diet"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16476 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16478 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16480 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16476; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24993387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population." . _:3a502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16478; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24993387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population." . _:3a512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16480; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24993387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population." . _:3a522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16482; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24993387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population." . _:3a532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24993387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population." . _:3a542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003762"; "Genetic propensity for cerebral amyloidosis and risk of mild cognitive impairment and Alzheimer's disease within a cognitive reserve framework."; "PMID:36895094" . _:3a552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24993387"; "The Hellenic Longitudinal Investigation of Aging and Diet (HELIAD): rationale, study design, and cohort description."; "PMID:24993387", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24993387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HELIAD is a population-based, multidisciplinary, collaborative study designed to estimate the prevalence and incidence of AD, other dementias, mild cognitive impairment, and other neuropsychiatric conditions of aging in the Greek population and to investigate associations between nutrition and cognitive dysfunction/age-related neuropsychiatric diseases in this Mediterranean population." . _:3a562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, multidisciplinary longitudinal study of older adults in Greece, randomly selected at age 65 or over from the municipality registries of Marousi, a suburb of Athens, and of the city of Larissa and its rural surroundings, with baseline evaluations from 2011 to 2015 and follow-up evaluations thereafter, designed to estimate the prevalence and incidence of Alzheimer's disease, other dementias, mild cognitive impairment and other neuropsychiatric conditions of ageing and to study their associations with nutrition in this Mediterranean population."; "PMID:24993387", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11817854/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1986; "adults over 64 who completed the baseline evaluation, 2011-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11817854/fullTextXML"; rdfs:comment "Overall, 1986 individuals completed the baseline evaluation from 2011 to 2015, while 1226 participants completed the follow-up evaluation from 2013 to 2019." . _:3a582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HELIAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16490; , ; ; "PGS000082", "PMID:23535730"; "A case-control study of epithelial ovarian cancer in Helsinki, Finland, whose ovarian cancer patients and healthy controls take part in the genetic association studies of the Ovarian Cancer Association Consortium."; "The acronym HOCS also denotes Hawaii Ovarian Cancer Study (COHO:0001870); this term is Helsinki Ovarian Cancer Study."@en; 226; 447; "HOC", "HOCS", "HeOCS"; ; rdfs:label "Helsinki Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16490 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16490; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "Cases treated between 1989-2003 at the Department of Obstetrics and Gynecology of the Helsinki University Central Hospital, where treatment of ovarian cancer patients from southern Finland is centralized." . _:3a5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Helsinki Ovarian Cancer Study HOC Helsinki, Finland Case-‐control 226 447 99.9 217(113)" . _:3a5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3a5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23535730"; "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer."; "PMID:23535730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Helsinki Ovarian Cancer Study HOC Helsinki, Finland Case-‐control 226 447 99.9 217(113)" . _:3a5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of epithelial ovarian cancer in Helsinki, Finland, whose ovarian cancer patients and healthy controls take part in the genetic association studies of the Ovarian Cancer Association Consortium."; "PMID:21639959", "PMID:23535730"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 226; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Helsinki Ovarian Cancer Study HOC Helsinki, Finland Case-‐control 226 447 99.9 217(113)" . _:3a5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 447; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Helsinki Ovarian Cancer Study HOC Helsinki, Finland Case-‐control 226 447 99.9 217(113)" . _:3a602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOC"; . _:3a612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOCS"; . _:3a622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HeOCS"; . a owl:NamedIndividual, ; , ; "PMID:42471507"; "A population-based cohort of men and women born in 1931–1939 in Hertfordshire, United Kingdom, who still lived there in 1998–2004, when they completed a home interview and a clinic visit for a detailed health assessment, and some of whom were followed up in later waves, recruited initially to investigate the relationship between growth in infancy and the risk of adult diseases and since used to study musculoskeletal and general health in older age."; "The acronym HCS also denotes Hunter Community Study (COHO:0000095); this term is Hertfordshire Cohort Study."@en; 2997; "HCS", "HerCS", "Hertfordshire", "Hertfordshire cohort study"; rdfs:label "Hertfordshire Cohort Study"@en . _:3a632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12942649/fullTextXML"; rdfs:comment "The Hertfordshire Cohort Study consists of 1579 men and 1418 women who were born in Hertfordshire (UK) from 1931–1939, and who still lived there in 1998–2004 when they completed a home interview and clinic visit for a detailed health assessment." . _:3a642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42471507"; "Biological age-acceleration in relation to muscle mass, strength and function: findings from the Hertfordshire Cohort Study."; "PMID:42471507", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42471507+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Overall, 331 participants from the UK community-dwelling Hertfordshire Cohort Study were analysed." . _:3a652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of men and women born in 1931–1939 in Hertfordshire, United Kingdom, who still lived there in 1998–2004, when they completed a home interview and a clinic visit for a detailed health assessment, and some of whom were followed up in later waves, recruited initially to investigate the relationship between growth in infancy and the risk of adult diseases and since used to study musculoskeletal and general health in older age."; "PMID:39751886", "PMID:41754086"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2997; "men and women born in Hertfordshire in 1931-1939 and still living there, who make up the cohort"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.287/MediaObjects/41588_2009_BFng287_MOESM14_ESM.pdf"; rdfs:comment "The Hertfordshire Cohort Study comprises 2,997 men and women born in the English county of Hertfordshire during the period 1931-1939 and still resident there today." . _:3a672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCS"; . _:3a682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HerCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16507; , , ; ; "PGS000758", "PMID:35995766"; "A family study, run by a consortium of universities in the United States and Canada, of sedentary white and Black families (both parents and adult offspring aged 17 to 65) who were tested, put through the same 20-week graded aerobic exercise training programme and re-tested, designed to document the role of the genotype in the cardiovascular, metabolic and hormonal responses to regular exercise."; 763; "HERITAGE", "HERITAGE Family Study", "HEalth, RIsk factors, exercise Training And Genetics Family Study", "Health, Risk Factors, Exercise Training and Genetics Family Study", "Health, Risk Factors, Exercise Training, and Genetics Family Study"; ; rdfs:label "Health, Risk Factors, Training and Genetics Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16507 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16507; "aerobic exercise training"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7674877+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The HERITAGE family study (HEalth, RIsk factors, exercise Training And GEnetics) will document the role of the genotype in the cardiovascular, metabolic, and hormonal responses to aerobic exercise training." . _:3a6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9395431/fullTextXML"; rdfs:comment "HERITAGE enrolled a combination of self-identified white and Black family units, totaling 763 sedentary participants (38% Black) between the ages of 17–65 years, in a 20-week, graded endurance exercise training study across four clinical centers in the US and Canada in 1995." . _:3a6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000758"; "A Polygenic Risk Score to Predict Future Adult Short Stature Among Children."; "PMID:33788949" . _:3a6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35995766"; "Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals."; "PMID:35995766", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9395431/fullTextXML"; rdfs:comment "To extend prior work, we performed a genome-wide association study integrating whole genome sequencing (WGS) of 2,291 metabolite peaks in 2466 participants from the Jackson Heart Study (JHS), a Black epidemiological cohort in Jackson, Mississippi, and validated findings in the Multi-Ethnic Study of Atherosclerosis (MESA; n = 995) and Health, Risk Factors, Exercise Training and Genetics Family Study (HERITAGE; n = 658)." . _:3a6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study, run by a consortium of universities in the United States and Canada, of sedentary white and Black families (both parents and adult offspring aged 17 to 65) who were tested, put through the same 20-week graded aerobic exercise training programme and re-tested, designed to document the role of the genotype in the cardiovascular, metabolic and hormonal responses to regular exercise."; "PMID:35995766", "PMID:7674877"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 763; "sedentary white and Black family members aged 17-65 enrolled in the exercise training study (1995)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9395431/fullTextXML"; rdfs:comment "HERITAGE enrolled a combination of self-identified white and Black family units, totaling 763 sedentary participants (38% Black) between the ages of 17–65 years, in a 20-week, graded endurance exercise training study across four clinical centers in the US and Canada in 1995." . _:3a6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HERITAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16515, _:genid-371333f489424440b12a13b9d98ced822608-genid16517; , , , , ; "PGS000718", "PMID:33012170"; "A randomized controlled trial, funded by the US National Institutes of Health, that enrolled adult patients with heart failure with reduced ejection fraction (left ventricular ejection fraction ≤35%) and NYHA class II-IV symptoms despite optimal therapy, at 82 centers in the United States, Canada and France from April 2003 to February 2007, comparing usual heart-failure care with usual care plus supervised and then home-based aerobic exercise training, and including a genetic sub-study."; 2331; "HF-ACTION", "Heart Failure - A Controlled Trial Investigating Outcomes of Exercise TraiNing", "Heart Failure: a Controlled Trial Investigating Outcomes of Exercise Training"; ; rdfs:label "Heart Failure: A Controlled Trial Investigating Outcomes of Exercise Training"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16515 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16517 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16515; "heart failure and reduced ejection fraction"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2916661/"; rdfs:comment "Multicenter, randomized controlled trial among 2331 medically stable outpatients with heart failure and reduced ejection fraction." . _:3a712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16517; "regular structured exercise training"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2916661/"; rdfs:comment "Our primary hypothesis was that in patients with stable heart failure, regular structured exercise training, when added to usual, evidence-based care in accordance with published guidelines, would significantly reduce the incidence of a combined end point of all-cause mortality or all-cause hospitalization." . _:3a722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19351941+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants in Heart Failure: A Controlled Trial Investigating Outcomes of Exercise Training (HF-ACTION) were randomized from April 2003 through February 2007 at 82 centers within the United States, Canada, and France; median follow-up was 30 months." . _:3a732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000718"; "Polygenic Score for β-Blocker Survival Benefit in European Ancestry Patients With Reduced Ejection Fraction Heart Failure."; "PMID:33012170" . _:3a742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33012170"; "Polygenic Score for β-Blocker Survival Benefit in European Ancestry Patients With Reduced Ejection Fraction Heart Failure."; "PMID:33012170", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7738407/unicode"; rdfs:comment "Three datasets were used: the Henry Ford Heart Failure Pharmacogenomic registry (HFPGR); the Trial of Intensified vs Standard Medical Therapy in Elderly Patients With Congestive Heart Failure (TIME-CHF); and Heart Failure: A Controlled Trial Investigating Outcomes of Exercise Training (HF-ACTION)." . _:3a752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized controlled trial, funded by the US National Institutes of Health, that enrolled adult patients with heart failure with reduced ejection fraction (left ventricular ejection fraction ≤35%) and NYHA class II-IV symptoms despite optimal therapy, at 82 centers in the United States, Canada and France from April 2003 to February 2007, comparing usual heart-failure care with usual care plus supervised and then home-based aerobic exercise training, and including a genetic sub-study."; "PMID:19351941", "PMID:33012170"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:3a762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2331; "HF-ACTION randomized heart-failure patients (2007)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2916661/"; rdfs:comment "A total of 2331 patients were enrolled at 82 participating centers in the United States, Canada, and France." . _:3a772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HF-ACTION"; . a owl:NamedIndividual, ; , ; ; "PMID:24860199"; "A 1990 follow-up survey of the twins of the Virginia 30,000 study of twins and their relatives (the 1988 Mid Atlantic Twin Registry study, a kinship sample drawn from Virginia's vital records and supplemented by a national mailing to members of the American Association of Retired Persons, which had answered a Health and Life Styles questionnaire in the late 1980s), in which twins aged 40 to 93 were surveyed again about two years later on many of the same measures, including a Wilson-Patterson inventory of political attitudes."; 4119; "HHO"; rdfs:label "Health Habits and Opinions study"@en . _:3a782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4038932/"; rdfs:comment "United States Health Habits and Opinions study (HHO) 1990" . _:3a792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4038932/"; rdfs:comment "The sample is a follow up of the 1988 MATR study above." . _:3a7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24860199"; "The Influence of Major Life Events on Economic Attitudes in a World of Gene-Environment Interplay."; "PMID:24860199", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4031194/"; rdfs:comment "This Health Habits and Opinions study (HHO) assessed many of the same political attitudes in the HLQ." . _:3a7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A 1990 follow-up survey of the twins of the Virginia 30,000 study of twins and their relatives (the 1988 Mid Atlantic Twin Registry study, a kinship sample drawn from Virginia's vital records and supplemented by a national mailing to members of the American Association of Retired Persons, which had answered a Health and Life Styles questionnaire in the late 1980s), in which twins aged 40 to 93 were surveyed again about two years later on many of the same measures, including a Wilson-Patterson inventory of political attitudes."; "PMID:24569950", "PMID:24860199"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4119; "twins aged 40-93 who took part in the follow-up survey about two years after the Health and Life Styles questionnaire (1990)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4031194/"; rdfs:comment "In addition, 4,119 of the twins, comprised of 744 female MZ twin pairs, 421 female DZ twin pairs, 195 male MZ pairs, 93 male DZ pairs, and 339 female-male twin pairs, aged 40–93 (μ=64, σ=7.9), took part in a follow-up two years later." . _:3a7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HHO"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. HIHG is the Hussman Institute for Human Genomics of the University of Miami (formerly the Miami Institute for Human Genomics). In the PGS Catalog's source paper the id labels the institute's Parkinson's disease GWAS sample, a genotyping set of unrelated cases gathered by the 13 ascertainment centres of the PD Genetics Collaboration and the Udall Parkinson Disease Center of Excellence core, with spouse and friend controls (PMID:20070850, PMC2853717). It is a GWAS sample assembled from those collections under the institute's name, not a collection with a name of its own. If a term is ever wanted, the named collection behind it would be the PD Genetics Collaboration (Scott et al. 2001) or the Udall center's collection, not HIHG. No COHO term or review name matches; the NeuroGenetics Research Consortium (COHO:0001108) and the Ashkenazi Jewish Dataset (COHO:0001283) are separate datasets of the same meta-analysis. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Hussman Institute of Human Genomics"@en; owl:deprecated true . a owl:NamedIndividual, ; , , , , ; , , , , , , , ; "PGS005102", "PMID:35399580"; "A consortium of studies and consortia of adults of Hispanic/Latino heritage, or of Native American heritage, from Brazil, Chile, Colombia, Mexico, Peru and the United States, among them the CANDELA consortium, that meta-analyses their genome-wide association results in discovery and replication stages to find and fine-map genetic loci for anthropometric traits such as body mass index, height and waist-to-hip ratio."; 59771; "HISLA"; ; rdfs:label "Hispanic/Latino Anthropometry Consortium"@en . _:3a7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "First, HISLA stage 1 includes 17 studies and one consortium (Consortium for the Analysis of the Diversity and Evolution of Latin America [CANDELA]17) collectively representing up to 59,771 adults, depending on the trait, from Brazil, Chile, Colombia, Mexico, Peru, or the US with self-reported heritage from across Spanish-speaking Latin America, or Native American heritage, primarily Pima and Zuni25 (Table S1)." . _:3a7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "Given the unique patterns of admixture and ancestry represented by the Brazilian or Native American samples, we conducted sensitivity analyses in stage 1 studies (i.e., comparing the inclusion and exclusion of the Baependi Heart Study, the 1982 Pelotas Birth Cohort Study, and the Family Investigation of Nephropathy and Diabetes substudy of individuals of Pima and Zuni heritage) to assess the influence of these three studies on the meta-analysis results." . _:3a802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "Given the unique patterns of admixture and ancestry represented by the Brazilian or Native American samples, we conducted sensitivity analyses in stage 1 studies (i.e., comparing the inclusion and exclusion of the Baependi Heart Study, the 1982 Pelotas Birth Cohort Study, and the Family Investigation of Nephropathy and Diabetes substudy of individuals of Pima and Zuni heritage) to assess the influence of these three studies on the meta-analysis results." . _:3a812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "Given the unique patterns of admixture and ancestry represented by the Brazilian or Native American samples, we conducted sensitivity analyses in stage 1 studies (i.e., comparing the inclusion and exclusion of the Baependi Heart Study, the 1982 Pelotas Birth Cohort Study, and the Family Investigation of Nephropathy and Diabetes substudy of individuals of Pima and Zuni heritage) to assess the influence of these three studies on the meta-analysis results." . _:3a822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "Only one family-based study in stage 1 and two non-family-based studies in stage 2 (Genetics of Latinos Diabetic Retinopathy, 0.3% <18 years; and Mapping the Genes for Hypertension, Insulin Resistance, and Salt Sensitivity Study, 3.9%) included a small subset of adolescents aged 15–17 years, each less than 5% of the total sample." . _:3a832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "First, HISLA stage 1 includes 17 studies and one consortium (Consortium for the Analysis of the Diversity and Evolution of Latin America [CANDELA]17) collectively representing up to 59,771 adults, depending on the trait, from Brazil, Chile, Colombia, Mexico, Peru, or the US with self-reported heritage from across Spanish-speaking Latin America, or Native American heritage, primarily Pima and Zuni25 (Table S1)." . _:3a842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005102"; "Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities."; "PMID:41844147" . _:3a852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35399580"; "Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium."; "PMID:35399580", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "The Hispanic/Latino Anthropometry (HISLA) Consortium is comprised of 27 studies/consortia of adult participants." . _:3a862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of studies and consortia of adults of Hispanic/Latino heritage, or of Native American heritage, from Brazil, Chile, Colombia, Mexico, Peru and the United States, among them the CANDELA consortium, that meta-analyses their genome-wide association results in discovery and replication stages to find and fine-map genetic loci for anthropometric traits such as body mass index, height and waist-to-hip ratio."; "PMID:35399580"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 59771; "adults with BMI data in the stage 1 (discovery) meta-analysis of the 2022 HISLA GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8990175/fullTextXML"; rdfs:comment "Stage 1 included a total sample of 59,771 individuals with data on BMI, 56,161 with height, and 42,455 with WHRadjBMI." . _:3a882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HISLA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16542; , ; ; "PMID:27135401"; "A hospital-based case-control study of endometrial cancer in Germany, whose cases were women aged 31–89 recruited at the Friedrich Schiller University of Jena or at Hannover Medical School after a diagnosis of histologically confirmed primary incident endometrial carcinoma between 2004 and 2010, who were interviewed there and gave peripheral blood for DNA, with epidemiological data from questionnaires and tumour stage and histology from pathology and clinical reports. Its cases were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; 250; "HJECS"; rdfs:label "Hannover-Jena Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16542 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16542; "endometrial carcinoma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "The Hannover-Jena Endometrial Cancer Study (HJECS), a hospital-based case-control study, included 250 German women, aged 31-89 years, who were recruited either at the Friedrich Schiller University of Jena or at Hannover Medical School after having been diagnosed with histologically confirmed primary incident endometrial carcinoma between 2004 and 2010." . _:3a8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "BECS/HJECS | Bavarian Endometrial Cancer Study/Hannover-Jena Endometrial Cancer Study | Germany; hospital-based cases, population-based cases" . _:3a8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27135401"; "Five endometrial cancer risk loci identified through genome-wide association analysis."; "PMID:27135401", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "The Hannover-Jena Endometrial Cancer Study (HJECS), a hospital-based case-control study, included 250 German women, aged 31-89 years, who were recruited either at the Friedrich Schiller University of Jena or at Hannover Medical School after having been diagnosed with histologically confirmed primary incident endometrial carcinoma between 2004 and 2010." . _:3a8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of endometrial cancer in Germany, whose cases were women aged 31–89 recruited at the Friedrich Schiller University of Jena or at Hannover Medical School after a diagnosis of histologically confirmed primary incident endometrial carcinoma between 2004 and 2010, who were interviewed there and gave peripheral blood for DNA, with epidemiological data from questionnaires and tumour stage and histology from pathology and clinical reports. Its cases were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; "PMID:27135401", "PMID:30093612"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 250; "HJECS women with histologically confirmed endometrial carcinoma recruited 2004-2010"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "The Hannover-Jena Endometrial Cancer Study (HJECS), a hospital-based case-control study, included 250 German women, aged 31-89 years, who were recruited either at the Friedrich Schiller University of Jena or at Hannover Medical School after having been diagnosed with histologically confirmed primary incident endometrial carcinoma between 2004 and 2010." . _:3a8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HJECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16549; , ; ; "PGS000082", "PMID:20852632"; "A hospital-based case-control study of ovarian cancer in Germany whose cases were patients attending the gynaecology clinics of Hannover Medical School or Friedrich Schiller University Jena and whose controls were healthy female blood donors at Hannover Medical School; one of the member studies of the Ovarian Cancer Association Consortium."; 286; 274; "HJO", "HJOCS"; ; rdfs:label "Hannover-Jena Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16549 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16549; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "HJO Hannover-Jena Ovarian Cancer Study (HJOCS) Germany Cases attending the Gynecology Clinics at Hannover Medical School or Friedrich Schiller University Jena." . _:3a902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "HJO Hannover-Jena Ovarian Cancer Study (HJOCS) Germany Cases attending the Gynecology Clinics at Hannover Medical School or Friedrich Schiller University Jena." . _:3a912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3a922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20852632"; "A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24."; "PMID:20852632", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "HJO Hannover-Jena Ovarian Cancer Study (HJOCS) Germany Cases attending the Gynecology Clinics at Hannover Medical School or Friedrich Schiller University Jena." . _:3a932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of ovarian cancer in Germany whose cases were patients attending the gynaecology clinics of Hannover Medical School or Friedrich Schiller University Jena and whose controls were healthy female blood donors at Hannover Medical School; one of the member studies of the Ovarian Cancer Association Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 286; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Hannover-‐Jena Ovarian Cancer Study HJO Germany Hospital based/ Case-‐control 286 274 99.5 271(140)" . _:3a952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 274; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Hannover-‐Jena Ovarian Cancer Study HJO Germany Hospital based/ Case-‐control 286 274 99.5 271(140)" . _:3a962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HJO"; . _:3a972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HJOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16559; , , ; ; "PGS000004", "PMID:32737321"; "A hospital-based case-control study of breast cancer in women in Hong Kong, supported by the Hong Kong Sanatorium and Hospital, that contributes genotyped cases and controls to the Breast Cancer Association Consortium's studies of women of Asian ancestry."; 478; 454; "HKBCS"; ; rdfs:label "Hong Kong Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16559 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16559; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "HKBCS Hong KongBreast Cancer Study8,9 Hospital-basedcase-control study China 454 478 48.08 (10.40) 43.86(9.97) 307 154 17 47 399 8 105 373 0" . _:3a992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:3a9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32737321"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "HKBCS Hong KongBreast Cancer Study8,9 Hospital-basedcase-control study China" . _:3a9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in women in Hong Kong, supported by the Hong Kong Sanatorium and Hospital, that contributes genotyped cases and controls to the Breast Cancer Association Consortium's studies of women of Asian ancestry."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3a9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 478; "HKBCS cases and controls included in the 2020 Asian PRS evaluation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "HKBCS Hong KongBreast Cancer Study8,9 Hospital-basedcase-control study China 454 478 48.08 (10.40) 43.86(9.97) 307 154 17 47 399 8 105 373 0" . _:3a9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 454; "HKBCS cases and controls included in the 2020 Asian PRS evaluation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "HKBCS Hong KongBreast Cancer Study8,9 Hospital-basedcase-control study China 454 478 48.08 (10.40) 43.86(9.97) 307 154 17 47 399 8 105 373 0" . _:3a9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16567; , , ; ; "PMID:23143601"; "A hospital-based case–control study of lung cancer among ethnic Chinese in Hong Kong, whose cases were lung cancer patients aged 18 to 80 years who underwent tumour resection at Queen Mary Hospital and Grantham Hospital and whose controls were patients of comparable age with non-cancer diagnoses at Queen Mary Hospital; its never-smoking women were genotyped in the genome-wide association study of the Female Lung Cancer Consortium in Asia."; 298; 666; "HKS"; rdfs:label "Hong Kong Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16567 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3a9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16567; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Cases were lung cancer patients who underwent tumor resection in the Grantham Hospital and the Queen Mary Hospital, ranged from at least 18 years to 80 years old." . _:3aa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The HKS enrolled cases and controls from the Queen Mary Hospital and the Grantham Hospital in Hong Kong." . _:3aa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23143601"; "Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia."; "PMID:23143601", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4169232/unicode"; rdfs:comment "Internal sets (HKS, SNU, CNULCS, SWHS, YLCS and components of samples from Japan and GELAC) were genotyped at the NCI Cancer Genomic Research (CGR) Laboratory using the Illumina 660W SNP microarray." . _:3aa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung cancer among ethnic Chinese in Hong Kong, whose cases were lung cancer patients aged 18 to 80 years who underwent tumour resection at Queen Mary Hospital and Grantham Hospital and whose controls were patients of comparable age with non-cancer diagnoses at Queen Mary Hospital; its never-smoking women were genotyped in the genome-wide association study of the Female Lung Cancer Consortium in Asia."; "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3aa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 298; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "HKS Hong Kong 298 226 0 666 60.7(10.9) 61.5(11.1) NA* 51.8(19.4) NA*" . _:3aa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 666; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "HKS Hong Kong 298 226 0 666 60.7(10.9) 61.5(11.1) NA* 51.8(19.4) NA*" . _:3aa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HKS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16575, _:genid-371333f489424440b12a13b9d98ced822608-genid16577; , ; "PGS000740", "PMID:28604730"; "A hospital-based case-control study of lung cancer at Massachusetts General Hospital in Boston, begun in 1992, whose cases are adults with primary lung cancer confirmed by a hospital lung pathologist and whose controls are cancer-free friends or spouses of cancer or surgery patients at the same hospital, with interviewer-administered questionnaires on smoking, occupational and family history."; 3170; 827; 3997; "HLCS", "Harvard lung cancer study", "LCS"; ; rdfs:label "Harvard Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16575 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16577 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3aa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16575; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Briefly, eligible cases included any person over the age of 18 years with a diagnosis of primary lung cancer that was further confirmed by an MGH lung pathologist." . _:3aa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16577; "smoking"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1435718/"; rdfs:comment "All models were fit using data from a lung cancer study of 1275 cases and 1269 controls that has focused on gene-smoking relationships." . _:3aa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "HLCS is a case-control study based at Mass General Hospital (MGH) in Boston, Massachusetts from 1992 to 2004." . _:3aa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:3aaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "HLCS is a case-control study based at Mass General Hospital (MGH) in Boston, Massachusetts from 1992 to 2004." . _:3aab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of lung cancer at Massachusetts General Hospital in Boston, begun in 1992, whose cases are adults with primary lung cancer confirmed by a hospital lung pathologist and whose controls are cancer-free friends or spouses of cancer or surgery patients at the same hospital, with interviewer-administered questionnaires on smoking, occupational and family history."; "PMID:26590902", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3aac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3170; "unique HLCS subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "HLCS Harvard Lung Cancer Study Harvard/Mass General Hospital D. Christiani USA Hosp. CC 1992-2004 3170 827 3997 16214908" . _:3aad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 827; "unique HLCS subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "HLCS Harvard Lung Cancer Study Harvard/Mass General Hospital D. Christiani USA Hosp. CC 1992-2004 3170 827 3997 16214908" . _:3aae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3997; "unique HLCS subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "HLCS Harvard Lung Cancer Study Harvard/Mass General Hospital D. Christiani USA Hosp. CC 1992-2004 3170 827 3997 16214908" . _:3aaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HLCS"; . _:3ab02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16588; , ; ; "PGS000004", "PMID:25855707"; "A breast cancer case-control study in Belarus whose cases were recruited in 2002-2008 at the N.N. Alexandrov Institute for Oncology and Medical Radiology in Minsk or at five regional oncology centres (Gomel, Mogilev, Grodno, Brest and Vitebsk), and whose controls were women attending general medical examinations at gynaecology clinics in those regions, women attending the Institute for Inherited Diseases in Minsk, female blood donors in Minsk and healthy relatives of cases; one of the member studies of the Breast Cancer Association Consortium."; 285; 349; "HMBCS"; ; rdfs:label "Hannover-Minsk Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16588 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ab12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16588; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HMBCS Hannover-Minsk Breast Cancer Study120 Hospital based cases; population based controls Belarus 349 285 214 70 0 0" . _:3ab22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HMBCS Hannover-Minsk Breast Cancer Study120 Hospital based cases; population based controls Belarus 349 285 214 70 0 0" . _:3ab32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes."; "PMID:30554720" . _:3ab42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25855707"; "Prediction of breast cancer risk based on profiling with common genetic variants."; "PMID:25855707", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/fullTextXML"; rdfs:comment "The Hannover-Minsk Breast Cancer Study (HMBCS) was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling Foundation." . _:3ab52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer case-control study in Belarus whose cases were recruited in 2002-2008 at the N.N. Alexandrov Institute for Oncology and Medical Radiology in Minsk or at five regional oncology centres (Gomel, Mogilev, Grodno, Brest and Vitebsk), and whose controls were women attending general medical examinations at gynaecology clinics in those regions, women attending the Institute for Inherited Diseases in Minsk, female blood donors in Minsk and healthy relatives of cases; one of the member studies of the Breast Cancer Association Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ab62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 285; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HMBCS Hannover-Minsk Breast Cancer Study120 Hospital based cases; population based controls Belarus 349 285 214 70 0 0" . _:3ab72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 349; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HMBCS Hannover-Minsk Breast Cancer Study120 Hospital based cases; population based controls Belarus 349 285 214 70 0 0" . _:3ab82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMBCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. HMGU is the German lung cancer case-control GWAS sample of the International Lung Cancer Consortium, with LUCY and Heidelberg cases and KORA controls (PMID:25644374), which COHO holds as COHO:0000165. Replaced by COHO:0000165 (The Helmholtz-Gemeinschaft Deutscher Forschungszentren), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete HMGU"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16597; , ; ; "PGS000082", "PMID:20852632"; "A hospital-based case-control study of epithelial ovarian cancer in Belarus whose cases were Belarusian patients recruited at the N.N. Alexandrov Institute for Oncology and Medical Radiology in Minsk and whose controls were healthy Belarusian women volunteers recruited over the same period at the Institute for Inherited Diseases or the Institute for Transfusion Medicine in Minsk; one of the member studies of the Ovarian Cancer Association Consortium."; 144; 140; "HMO", "HMOCS"; ; rdfs:label "Hannover-Minsk Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16597 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ab92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16597; "epithelial ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "Hospital-based case series of Byelorussian patients with epithelial ovarian cancer who had been recruited during the years 2006–2009 at the Byelorussian Institute for Oncology and Medical Radiology Aleksandrov N.N. in Minsk, Belarus." . _:3aba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "Hospital-based case series of Byelorussian patients with epithelial ovarian cancer who had been recruited during the years 2006–2009 at the Byelorussian Institute for Oncology and Medical Radiology Aleksandrov N.N. in Minsk, Belarus." . _:3abb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3abc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20852632"; "A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24."; "PMID:20852632", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "HMO Hannover-Minsk Ovarian Cancer Study (HMOCS) Germany Hospital-based case series of Byelorussian patients with epithelial ovarian cancer who had been recruited during the years 2006–2009 at the Byelorussian Institute for Oncology and Medical Radiology Aleksandrov N.N. in Minsk, Belarus." . _:3abd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of epithelial ovarian cancer in Belarus whose cases were Belarusian patients recruited at the N.N. Alexandrov Institute for Oncology and Medical Radiology in Minsk and whose controls were healthy Belarusian women volunteers recruited over the same period at the Institute for Inherited Diseases or the Institute for Transfusion Medicine in Minsk; one of the member studies of the Ovarian Cancer Association Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3abe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 144; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Hannover-‐Minsk Ovarian Cancer Study HMO Belarus Case-‐control 144 140 98.6 142(50)" . _:3abf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 140; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Hannover-‐Minsk Ovarian Cancer Study HMO Belarus Case-‐control 144 140 98.6 142(50)" . _:3ac02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMO"; . _:3ac12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HMOCS"; . a owl:NamedIndividual, ; , ; ; "PGS000004", "PMID:38153744"; "A population health study of adult volunteers in Nevada, established in 2016 by Renown Health and the Desert Research Institute in Reno with targeted recruitment in rural and socioeconomically deprived areas of northern Nevada, that links participants' genetic data (genotyping from 2016, Helix Exome+ sequencing from 2018) with their Renown Health electronic health records."; 30000; "HNP", "Healthy Nevada"; , ; rdfs:label "Healthy Nevada Project"@en; rdfs:seeAlso . _:3ac22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7982958/"; rdfs:comment "The HNP is a population health study of Nevadans, with specific targeted recruitment in rural and socioeconomically depressed Northern Nevada areas." . _:3ac32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer."; "PMID:38153744" . _:3ac42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38153744"; "The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer."; "PMID:38153744", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10870185/fullTextXML"; rdfs:comment "In this case-control study, we performed a retrospective analysis of 25 591 women from the all-comers Healthy Nevada Project,8,11 who had available electronic health records from Renown Health (mean length of electronic health records, 15 years; eTable 1 in Supplement 2)." . _:3ac52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population health study of adult volunteers in Nevada, established in 2016 by Renown Health and the Desert Research Institute in Reno with targeted recruitment in rural and socioeconomically deprived areas of northern Nevada, that links participants' genetic data (genotyping from 2016, Helix Exome+ sequencing from 2018) with their Renown Health electronic health records."; "PMID:33763119"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ac62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 30000; "sequenced Phase II participants with linked electronic health records, December 2020 (approximate)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7982958/"; rdfs:comment "As of December 2020, approximately 30,000 sequenced Phase II participants in the HNP have cross-referenced electronic medical records." . _:3ac72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HNP"; . _:3ac82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Healthy Nevada"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16614; , ; ; "PGS000082", "PMID:36826816"; "A population-based case-control study of ovarian cancer in Hawaii, USA, whose cases were identified by rapid case ascertainment through the Hawaii Tumor Registry from 1993 to 2008 and whose controls were randomly selected from the Hawaii Department of Health's annual survey of representative households and matched to cases on age and ethnicity, with data collected by interview; one of the member studies of the Ovarian Cancer Association Consortium."; "The acronym HAW also denotes Hawaii Endometrial Cancer Study (COHO:0001851); this term is Hawaii Ovarian Cancer Study."@en, "The acronym HOCS also denotes Helsinki Ovarian Cancer Study (COHO:0001854); this term is Hawaii Ovarian Cancer Study."@en; 895; 1103; "HAW", "HAWAII", "HOCS", "Hawaii Ovarian Cancer Case-Control Study"; ; rdfs:label "Hawaii Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16614 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ac92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16614; "epithelial ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2663409/"; rdfs:comment "Eligible cases for this population-based, case–control study in Hawaii comprised all patients, 18 years of age and older, with histologically confirmed, primary, epithelial ovarian cancer diagnosed between 1993 and 2006" . _:3aca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "HAW Hawaii Ovarian Cancer Study United States Rapid case ascertainment through Hawaii Tumor Registry from 1993 onwards." . _:3acb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3acc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36826816"; "Association of Frequent Aspirin Use With Ovarian Cancer Risk According to Genetic Susceptibility."; "PMID:36826816", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9958519/"; rdfs:comment "The Hawaii Ovarian Cancer Case-Control Study was funded by grants R01 CA58598, N01 CN55424, and N01 PC67001 from the NCI." . _:3acd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of ovarian cancer in Hawaii, USA, whose cases were identified by rapid case ascertainment through the Hawaii Tumor Registry from 1993 to 2008 and whose controls were randomly selected from the Hawaii Department of Health's annual survey of representative households and matched to cases on age and ethnicity, with data collected by interview; one of the member studies of the Ovarian Cancer Association Consortium."; "PMID:36688720", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ace2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 895; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "HAW (21) USA Hawaii Ovarian Cancer Case-Control Study 1993-2008 Population-based Interview 54.98 (14.28) 1103 (55.2) 895 (44.8)" . _:3acf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1103; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "HAW (21) USA Hawaii Ovarian Cancer Case-Control Study 1993-2008 Population-based Interview 54.98 (14.28) 1103 (55.2) 895 (44.8)" . _:3ad02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAW"; . _:3ad12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAWAII"; . _:3ad22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16625; , ; , ; "PGS005170", "PMID:19768735"; "A population-based cohort study of glucose metabolism and vascular disease in the Netherlands, begun in 1989 with men and women aged 50-74 randomly selected from the population register of the town of Hoorn, who underwent oral glucose tolerance tests and were re-examined in 1996-1998, 2000-2001 and 2005-2007."; 2484; "Hoorn", "Hoorn study"; ; rdfs:label "Hoorn Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16625 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ad32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16625; "glucose intolerance"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8612442+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To study the prevalence and determinants of glucose intolerance in a general Caucasian population." . _:3ad42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8720611+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A survey of glucose tolerance was conducted in subjects aged 50-74 years, randomly selected from the registry of the middle-sized town of Hoorn in the Netherlands." . _:3ad52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:3ad62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19768735"; "Blood pressure levels in pre-diabetic stages are associated with worse cognitive functioning in patients with type 2 diabetes."; "PMID:19768735", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19768735+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Hoorn study is a population-based cohort study on glucose metabolism and vascular disease initiated in 1989, with follow-up examinations in 1996-1998, 2000-2001 and 2005-2007." . _:3ad72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of glucose metabolism and vascular disease in the Netherlands, begun in 1989 with men and women aged 50-74 randomly selected from the population register of the town of Hoorn, who underwent oral glucose tolerance tests and were re-examined in 1996-1998, 2000-2001 and 2005-2007."; "PMID:19768735", "PMID:8612442", "PMID:8720611"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ad82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2484; "men and women aged 50-74 from the population register of Hoorn examined with oral glucose tolerance tests at baseline (1989)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8612442+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A random sample of 50- to 74-year old Caucasians (n = 2,484) underwent oral glucose tolerance tests." . _:3ad92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoorn"; . _:3ada2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hoorn study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16634, _:genid-371333f489424440b12a13b9d98ced822608-genid16636, _:genid-371333f489424440b12a13b9d98ced822608-genid16638; , ; ; "PGS000082", "PMID:36826816"; "A population-based case-control study of epithelial ovarian cancer run from the University of Pittsburgh, which enrolled women with primary epithelial ovarian, fallopian tube or peritoneal cancer diagnosed from 2003 who lived in western Pennsylvania, eastern Ohio and western New York State, identified from hospital tumour registries, clinical practices and pathology databases, and interviewed participants at home."; "The acronym HOPE also denotes Healthy Zhejiang One Million People Cohort (COHO:0001354); this term is Hormones and Ovarian Cancer Prediction Study."@en; 902; 1802; "HOP", "HOPE", "Hormones and Ovarian Cancer Prediction", "Hormones and Ovarian Cancer Prediction study", "Hormones and Ovarian cancer PrEdiction", "NRFPEDMOC", "Novel Risk Factors and Potential Early Detection Markers for Ovarian Cancer"; ; rdfs:label "Hormones and Ovarian Cancer Prediction Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16634 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3adb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16634; "peritoneal cancer"; "https://www.nature.com/articles/s41416-026-03508-9"; rdfs:comment "The HOPE study enrolled women with primary epithelial ovarian, fallopian tube, or peritoneal cancer between 2003 and 2008 who were residents of the contiguous region consisting of Western Pennsylvania, Eastern Ohio, and Western New York State [20]." . _:3adc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16636; "fallopian tube cancer"; "https://www.nature.com/articles/s41416-026-03508-9"; rdfs:comment "The HOPE study enrolled women with primary epithelial ovarian, fallopian tube, or peritoneal cancer between 2003 and 2008 who were residents of the contiguous region consisting of Western Pennsylvania, Eastern Ohio, and Western New York State [20]." . _:3add2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16638; "epithelial ovarian cancer"; "https://www.nature.com/articles/s41416-026-03508-9"; rdfs:comment "The HOPE study enrolled women with primary epithelial ovarian, fallopian tube, or peritoneal cancer between 2003 and 2008 who were residents of the contiguous region consisting of Western Pennsylvania, Eastern Ohio, and Western New York State [20]." . _:3ade2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.nature.com/articles/s41416-026-03508-9"; rdfs:comment "The HOPE study enrolled women with primary epithelial ovarian, fallopian tube, or peritoneal cancer between 2003 and 2008 who were residents of the contiguous region consisting of Western Pennsylvania, Eastern Ohio, and Western New York State [20]." . _:3adf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3ae02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36826816"; "Association of Frequent Aspirin Use With Ovarian Cancer Risk According to Genetic Susceptibility."; "PMID:36826816", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9958519/fullTextXML"; rdfs:comment "we pooled data from the following 8 population-based case-control studies from the Ovarian Cancer Association Consortium (OCAC): the Australian Ovarian Cancer Study,8 the Diseases of the Ovary and Their Evaluation Study,9,10 the Hawaii Ovarian Cancer Study,11,12 the Hormones and Ovarian Cancer Prediction Study,13" . _:3ae12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer run from the University of Pittsburgh, which enrolled women with primary epithelial ovarian, fallopian tube or peritoneal cancer diagnosed from 2003 who lived in western Pennsylvania, eastern Ohio and western New York State, identified from hospital tumour registries, clinical practices and pathology databases, and interviewed participants at home."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10165492/fullTextXML", "https://www.nature.com/articles/s41416-026-03508-9", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ae22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 902; "eligible HOPE cases and controls completing interviews"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3454462/"; rdfs:comment "Of 1,270 eligible cases, 902 completed the interview." . _:3ae32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1802; "eligible HOPE cases and controls completing interviews"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3454462/"; rdfs:comment "Overall, 1,802 eligible controls completed interviews (Figure)." . _:3ae42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOP"; . _:3ae52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HOPE"; . _:3ae62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NRFPEDMOC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. HPFS3 is the third Health Professionals Follow-up Study case-control set of the colorectal cancer GWAS of PMID:29917119, beside NHS3. The Catalog's name for it, Prospective cohort of men (USA), is generic and is not carried over. Replaced by COHO:0000527 (Health Professionals Follow-up Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Prospective cohort of men (USA)"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16649; , ; ; "PGS004921", "PMID:26343387"; "A Finnish forensic autopsy series of men aged 35 to 69 who died out of hospital, combining consecutive autopsies in Helsinki in 1991-1992 (the Helsinki Sudden Death Study) and in Tampere in 2001-2004 (the Tampere Coronary Study), in which coronary artery disease was assessed at autopsy from coronary stenosis of 50% or more, old or acute myocardial infarction, or sudden cardiac death from plaque rupture and thrombosis."; 206; 258; "HSDS", "Helsinki Sudden Death Study"; ; rdfs:label "Helsinki Sudden Death Study/Tampere Coronary Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16649 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ae72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16649; "coronary artery disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "Coronary artery disease was defined as coronary artery stenosis 50 % or greater, old or acute myocardial infarction, or sudden cardiac death caused by plaque rupture and thrombosis." . _:3ae82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "The Helsinki Sudden Death Study (HSDS) and Tampere Coronary Study (TCS) are a series of consecutive forensic autopsies of men aged 35-69 who died out of hospital in Helsinki between 1991 and 1992 (HSDS) or in Tampere between 2001 and 2004 (TCS)." . _:3ae92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004921"; "Sexual Differences in Genetic Predisposition of Coronary Artery Disease."; "PMID:33332181" . _:3aea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26343387"; "A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease."; "PMID:26343387", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; rdfs:comment "The Helsinki Sudden Death Study (HSDS) and Tampere Coronary Study (TCS) are a series of consecutive forensic autopsies of men aged 35-69 who died out of hospital in Helsinki between 1991 and 1992 (HSDS) or in Tampere between 2001 and 2004 (TCS)." . _:3aeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish forensic autopsy series of men aged 35 to 69 who died out of hospital, combining consecutive autopsies in Helsinki in 1991-1992 (the Helsinki Sudden Death Study) and in Tampere in 2001-2004 (the Tampere Coronary Study), in which coronary artery disease was assessed at autopsy from coronary stenosis of 50% or more, old or acute myocardial infarction, or sudden cardiac death from plaque rupture and thrombosis."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3396/MediaObjects/41588_2015_BFng3396_MOESM57_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3aec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 206; "HSDS/TCS contribution to the 2016 CARDIoGRAMplusC4D X-chromosome meta-analysis"; "https://www.nature.com/articles/srep35278/tables/1"; rdfs:comment "HSDSWhite European206 (0.0)258 (0.0)45.6" . _:3aed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 258; "HSDS/TCS contribution to the 2016 CARDIoGRAMplusC4D X-chromosome meta-analysis"; "https://www.nature.com/articles/srep35278/tables/1"; rdfs:comment "HSDSWhite European206 (0.0)258 (0.0)45.6" . _:3aee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HSDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16658; , , ; "PMID:22961080"; "A type 2 diabetes case-control sample of unrelated Han Chinese from Hubei province, China, made up of people with type 2 diabetes and nondiabetic controls, genotyped as one of three independent replication populations in a genome-wide association study of type 2 diabetes in Chinese Hans."; "HTDS"; rdfs:label "Hubei Type 2 Diabetes Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16658 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3aef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16658; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 2 samples for replication testing of 96 single nucleotide polymorphisms (SNPs) consisted of 13,517 unrelated Chinese Hans (6,570 T2D case and 6,947 nondiabetic control subjects) from the Guizhou-Bijie Type 2 Diabetes Study (GBTDS), the Beijing Type 2 Diabetes Studies (BTDS), and the Hubei Type 2 Diabetes Studies (HTDS)." . _:3af02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 2 samples for replication testing of 96 single nucleotide polymorphisms (SNPs) consisted of 13,517 unrelated Chinese Hans (6,570 T2D case and 6,947 nondiabetic control subjects) from the Guizhou-Bijie Type 2 Diabetes Study (GBTDS), the Beijing Type 2 Diabetes Studies (BTDS), and the Hubei Type 2 Diabetes Studies (HTDS)." . _:3af12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22961080"; "A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans."; "PMID:22961080", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 2 samples for replication testing of 96 single nucleotide polymorphisms (SNPs) consisted of 13,517 unrelated Chinese Hans (6,570 T2D case and 6,947 nondiabetic control subjects) from the Guizhou-Bijie Type 2 Diabetes Study (GBTDS), the Beijing Type 2 Diabetes Studies (BTDS), and the Hubei Type 2 Diabetes Studies (HTDS)." . _:3af22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control sample of unrelated Han Chinese from Hubei province, China, made up of people with type 2 diabetes and nondiabetic controls, genotyped as one of three independent replication populations in a genome-wide association study of type 2 diabetes in Chinese Hans."; "PMID:22961080"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3af32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HTDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16664; , ; ; "PMID:20847302"; "A family cohort of white British nuclear and extended families from Oxford, United Kingdom, recruited from 1993 through a proband with essential hypertension in the upper 5% of the blood pressure distribution, with other family members collected regardless of their blood pressure, for quantitative genetic study of hypertension, left ventricular mass and other cardiovascular risk factors; families were recalled for further cardiovascular phenotyping, including electrocardiography, echocardiography and cardiac magnetic resonance imaging."; 1425; "HTO", "Oxford Family Blood Pressure cohort"; rdfs:label "Oxford Family Blood Pressure Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16664 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3af42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16664; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6753112/fullTextXML"; rdfs:comment "Families were ascertained through a hypertensive proband (through a hospital hypertension service or via their family physicians) defined as daytime ambulatory blood pressure of >140/90 mmHg before the age of 65 years, a level which corresponds to the upper 5% of the distribution in Caucasian populations." . _:3af52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0205-x/MediaObjects/41588_2018_205_MOESM3_ESM.xlsx"; rdfs:comment "This family study in which probands were ascertained based on blood pressure, and family members were collected regardless of case or control status. | U.K Oxford cohort" . _:3af62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20847302"; "Coronary artery disease-related genetic variant on chromosome 10q11 is associated with carotid intima-media thickness and atherosclerosis."; "PMID:20847302", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20847302+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped 3 population cohorts (Bruneck [age range, 45 to 94 years; 50.0% men; n=738], Health2000 [age range, 46 to 76 years; 55.4% men; n=1237], and essential hypertension in families collected in the region of Oxford [HTO] [age range, 19 to 88 years; 47.9% men; n=770]) for single-nucleotide polymorphism rs501120 at the 10q11.21 locus and conducted a meta-analysis in these cohorts to ascertain a relationship between the polymorphism and carotid IMT." . _:3af72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family cohort of white British nuclear and extended families from Oxford, United Kingdom, recruited from 1993 through a proband with essential hypertension in the upper 5% of the blood pressure distribution, with other family members collected regardless of their blood pressure, for quantitative genetic study of hypertension, left ventricular mass and other cardiovascular risk factors; families were recalled for further cardiovascular phenotyping, including electrocardiography, echocardiography and cardiac magnetic resonance imaging."; "PMID:23372812", "PMID:30224653", "PMID:31537879"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3af82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1425; "members of 248 families recruited in Oxford, 1993-1997"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6753112/fullTextXML"; rdfs:comment "Between 1993 and 1997, we recruited 248 families with 1425 members from Oxford for quantitative genetic study of hypertension and other cardiovascular risk factors3." . _:3af92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HTO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16671; , ; ; "PGS000004", "PMID:22267197"; "A German-Russian breast cancer case-control study based at the Institute of Biochemistry and Genetics of the Ufa Scientific Center, Russian Academy of Sciences, whose cases are consecutive breast cancer patients diagnosed in 2000-2008 at two oncology centres in Bashkortostan and Siberia, Russia, and whose controls are healthy volunteers selected in 2002-2008 from population studies in the same regions."; 349; 238; "HUBCS"; ; rdfs:label "Hannover-Ufa Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3afa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16671; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "HUBCS Hannover-Ufa Breast Cancer Study 23 Russia Consecutive cancer patients diagnosed at two participating oncological centers in Bashkorstostan and Siberia between 2000-2008 Healthy volunteers selected from poulation studies in the same geographical regions during 2002-2008." . _:3afb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "HUBCS Hannover-Ufa Breast Cancer Study 23 Russia Consecutive cancer patients diagnosed at two participating oncological centers in Bashkorstostan and Siberia between 2000-2008 Healthy volunteers selected from poulation studies in the same geographical regions during 2002-2008." . _:3afc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:3afd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22267197"; "Genome-wide association analysis identifies three new breast cancer susceptibility loci."; "PMID:22267197", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "HUBCS Hannover-Ufa Breast Cancer Study 23 Russia Consecutive cancer patients diagnosed at two participating oncological centers in Bashkorstostan and Siberia between 2000-2008 Healthy volunteers selected from poulation studies in the same geographical regions during 2002-2008." . _:3afe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German-Russian breast cancer case-control study based at the Institute of Biochemistry and Genetics of the Ufa Scientific Center, Russian Academy of Sciences, whose cases are consecutive breast cancer patients diagnosed in 2000-2008 at two oncology centres in Bashkortostan and Siberia, Russia, and whose controls are healthy volunteers selected in 2002-2008 from population studies in the same regions."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3387216/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3aff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 349; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HUBCS Hannover-Ufa Breast Cancer Study120 Population and hospital-based cases; geographically matched controls Russia 238 349 131 221 0 0" . _:3b002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 238; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "HUBCS Hannover-Ufa Breast Cancer Study120 Population and hospital-based cases; geographically matched controls Russia 238 349 131 221 0 0" . _:3b012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16680, _:genid-371333f489424440b12a13b9d98ced822608-genid16682; , ; "PMID:24253340"; "A repository of DNA samples from Ashkenazi Jewish people, collected and held at the Hebrew University in Israel, that includes patients with schizophrenia or schizoaffective disorder recruited from hospitalised inpatients at seven medical centres in Israel, patients with diabetes and healthy volunteers, among them controls collected through the Israeli Blood Bank; its schizophrenia cases and controls form a case-control sample used in genome-wide association studies of schizophrenia."; 1156; 2279; "HUGR", "Hebrew university geneomic resource AJ schizophrenia case-control sample"; rdfs:label "Hebrew University Genetic Resource"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16680 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16682 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16680; "schizophrenia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204767/"; rdfs:comment "A total of 1156 SCZ cases from ethnically homogenous population (Ashkenazi Jews) have been collected and ascertained at the Hebrew University, Israel (Hebrew University Genetic Resource, HUGR, http://hugr.huji.ac.il)." . _:3b032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16682; "schizoaffective disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204767/"; rdfs:comment "A total of 1156 SCZ cases from ethnically homogenous population (Ashkenazi Jews) have been collected and ascertained at the Hebrew University, Israel (Hebrew University Genetic Resource, HUGR, http://hugr.huji.ac.il)." . _:3b042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3905728/"; rdfs:comment "Patients for discovery analysis were recruited from hospitalized inpatients at seven medical centres in Israel." . _:3b052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24253340"; "Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder."; "PMID:24253340", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3905728/"; rdfs:comment "Case (n=1,156) and control (n=2,279) samples were selected from an Ashkenazi Jewish repository (Hebrew University Genetic Resource, HUGR, http://hugr.huji.ac.il)." . _:3b062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A repository of DNA samples from Ashkenazi Jewish people, collected and held at the Hebrew University in Israel, that includes patients with schizophrenia or schizoaffective disorder recruited from hospitalised inpatients at seven medical centres in Israel, patients with diabetes and healthy volunteers, among them controls collected through the Israeli Blood Bank; its schizophrenia cases and controls form a case-control sample used in genome-wide association studies of schizophrenia."; "PMID:21533139", "PMID:22277159", "PMID:24253340", "PMID:24943592"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1156; "schizophrenia cases and controls selected from the repository (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3905728/fullTextXML"; rdfs:comment "Case (n=1,156) and control (n=2,279) samples were selected from an Ashkenazi Jewish repository (Hebrew University Genetic Resource, HUGR, http://hugr.huji.ac.il)." . _:3b082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2279; "schizophrenia cases and controls selected from the repository (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3905728/fullTextXML"; rdfs:comment "Case (n=1,156) and control (n=2,279) samples were selected from an Ashkenazi Jewish repository (Hebrew University Genetic Resource, HUGR, http://hugr.huji.ac.il)." . _:3b092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUGR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16690, _:genid-371333f489424440b12a13b9d98ced822608-genid16692; , ; ; "PGS000004", "PMID:29058716"; "A Hungarian study of inherited breast and ovarian cancer, run by the Hungarian Breast and Ovarian Cancer Study Group at the Department of Molecular Genetics of the National Institute of Oncology in Budapest, which contributes carriers of pathogenic BRCA1 and BRCA2 variants and their data to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; 179; 101; "HUNBOCS", "Hungarian Breast and Ovarian Cancer Study", "Molecular Genetic Studies of Breast and Ovarian Cancer in Hungary"; ; rdfs:label "Molecular Genetic Studies of Breast- and Ovarian Cancer in Hungary"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16690 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16692 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16690; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:3b0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16692; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:3b0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "HUNBOCS | Molecular Genetic Studies of Breast- and Ovarian Cancer in Hungary | HUNGARY | 101 | 179 | | |" . _:3b0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:3b0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "HUNBOCS | Molecular Genetic Studies of Breast- and Ovarian Cancer in Hungary | HUNGARY | 101 | 179 | | |" . _:3b0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Hungarian study of inherited breast and ovarian cancer, run by the Hungarian Breast and Ovarian Cancer Study Group at the Department of Molecular Genetics of the National Institute of Oncology in Budapest, which contributes carriers of pathogenic BRCA1 and BRCA2 variants and their data to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9537519/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 179; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "HUNBOCS | Molecular Genetic Studies of Breast- and Ovarian Cancer in Hungary | HUNGARY | 101 | 179 | | |" . _:3b112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 101; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "HUNBOCS | Molecular Genetic Studies of Breast- and Ovarian Cancer in Hungary | HUNGARY | 101 | 179 | | |" . _:3b122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUNBOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16701; , ; ; "PGS000082", "PMID:41266372"; "An epithelial ovarian cancer case-control study of women in Russia, named for its Hannover (Germany) and Ufa (Russia) partners and funded by the German Research Foundation and the Rudolf-Bartling Foundation, that contributes cases and controls to the Ovarian Cancer Association Consortium's genotyping projects."; 47; 113; "HUO", "HUOCS"; ; rdfs:label "Hannover-Ufa Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16701 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16701; "epithelial ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf"; rdfs:comment "Russia HUO 113 47 18 0 1 2 2 24" . _:3b142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf"; rdfs:comment "Russia HUO 113 47 18 0 1 2 2 24" . _:3b152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919", "https://www.pgscatalog.org/score/PGS000082/" . _:3b162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41266372"; "Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer."; "PMID:41266372", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; rdfs:comment "HUO: German Research Foundation (Do 761/15-1); Rudolf-Bartling Foundation" . _:3b172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An epithelial ovarian cancer case-control study of women in Russia, named for its Hannover (Germany) and Ufa (Russia) partners and funded by the German Research Foundation and the Rudolf-Bartling Foundation, that contributes cases and controls to the Ovarian Cancer Association Consortium's genotyping projects."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 47; "HUO EOC cases and controls in the OncoArray stratum of the 2025 OCAC analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf"; rdfs:comment "Russia HUO 113 47 18 0 1 2 2 24" . _:3b192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 113; "HUO EOC cases and controls in the OncoArray stratum of the 2025 OCAC analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41525-025-00529-w/MediaObjects/41525_2025_529_MOESM1_ESM.pdf"; rdfs:comment "Russia HUO 113 47 18 0 1 2 2 24" . _:3b1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUO"; . _:3b1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUOCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. HUVH is the Hospital Universitari Vall d'Hebron in Barcelona, Spain. Every PGS Catalog use of the id goes back to CIMBA (COHO:0000901) data: the hospital's contribution of BRCA1/2 mutation carriers, which CIMBA papers call only 'University Hospital Vall d'Hebron (HVH)' and describe no further (no study name, recruitment period or design). It is an institution label for a CIMBA site, decided as the review decided BIDMC, UPENN, MSKCC and Chicago. Do not confuse with COHO:0000564 (Heart and Vascular Health Study), which carries the acronym HVH; neither HUVH nor 'HVH' in this sense should be added there. If the curator ever mints CIMBA site samples, this would be the Vall d'Hebron CIMBA study, memberOf COHO:0000901, with PMID:32665703 as its example. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Hospital Universitari Vall dHebron"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16711; ; , ; "PGS002296", "PMID:35252394"; "A European Union Seventh Framework Programme project on the genetics of essential hypertension, coordinated from the University of Milan, that assembled hypertensive cases, normotensive controls and population samples from extensively characterised cohorts in different European regions (northern Europe, continental Italy and Sardinia), among them the FLEMENGHO/EPOGH cohort, the Wandsworth Heart and Stroke Study, the Milano-Sassari cohort and the SOPHIA cohort, for a two-stage genome-wide association study."; 6206; "European Network for Genetic-Epidemiological Studies", "HYPERGENES", "HYPERGENES–European Network for Genetic-Epidemiological Studies: building a method to dissect complex genetic traits, using essential hypertension as a disease model", "Hypergenes", "Hypergenes - European Network for Genetic-Epidemiological Studies", "Hypergenes - European Network for Genetic-Epidemological Studies"; ; rdfs:label "HYPERGENES–European Network for Genetic-Epidemiological Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16711 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16711; "essential hypertension"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272453/"; rdfs:comment "The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a two-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions." . _:3b1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature11401/MediaObjects/41586_2012_BFnature11401_MOESM14_ESM.pdf"; rdfs:comment "Regarding the present work, cases and controls were recruited within specific cohorts/networks: FLEMENGHO/EPOGH cohort" . _:3b1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8888857/fullTextXML"; rdfs:comment "As target sample, 1,292 samples from Italy cohorts were selected, divided into 561 hypertensives (43.4%) and 731 normotensives (56.6%) (Table 1)." . _:3b1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002296"; "Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components."; "PMID:35252394" . _:3b202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35252394"; "Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components."; "PMID:35252394", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8888857/fullTextXML"; rdfs:comment "Data originate from the multicenter international study “HYPERGENES–European Network for Genetic-Epidemiological Studies: building a method to dissect complex genetic traits, using essential hypertension as a disease model,” funded by the European Union 7th Framework Programme (grant HEALTH-2007-201550) (18)." . _:3b212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European Union Seventh Framework Programme project on the genetics of essential hypertension, coordinated from the University of Milan, that assembled hypertensive cases, normotensive controls and population samples from extensively characterised cohorts in different European regions (northern Europe, continental Italy and Sardinia), among them the FLEMENGHO/EPOGH cohort, the Wandsworth Heart and Stroke Study, the Milano-Sassari cohort and the SOPHIA cohort, for a two-stage genome-wide association study."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature11401/MediaObjects/41586_2012_BFnature11401_MOESM14_ESM.pdf", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272453/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6206; "cases and controls of the discovery and validation stages combined in the project's 2012 GWAS (as analysed for the lead SNP)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272453/"; rdfs:comment "HYPERGENES_DISCOVERY 3596 1.43 0.11 1.224-1.657 4.81E-06 HYPERGENES_VALIDATION 2610 1.71 0.155 1.440-2.049 2.55E-09 Combined AnalysisHYPERGENES 6206" . _:3b232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HYPERGENES"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Hamburg-Zagreb (HZ) names two cities: the PGS Catalog cohort id is the PRACTICAL consortium’s label for hospital-based prostate cancer cases seen at the Department of Oncology, University Hospital Center Zagreb, and controls, a local sample with no study name. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Hamburg-Zagreb"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16720; , ; ; "PGS000138", "PMID:22472876"; "A major depressive disorder case-control sample of the Psychiatric Genomics Consortium from the Partners HealthCare System in the United States, assembled with the i2b2 (Informatics for Integrating Biology and the Bedside) centre, whose cases were identified by natural language processing of electronic medical records with psychiatrist review (an ICD-9 diagnosis of major depressive disorder, confirmed on record review, with depression either responsive to an SSRI or unresponsive to at least two antidepressant trials) and whose controls came from neuroimaging studies, screened by self-reported psychiatric history."; 806; 1067; 1873; "Harvard i2b2 sample", "Integrating Biology & the Bedside", "i2b2", "i2b2-TRD", "i2b3"; ; rdfs:label "Harvard i2b2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16720 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16720; "major depressive disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864 MDD2000-QIMR_610 1184 433 751 MDD2000-QIMR_317 1977 1017 960 MPIP 913 376 537 RADIANT + Bonn/Mannheim 2225 935 1290 RADIANT 3213 1625 1588 STAR*D 1752 1241 511 MDD replication deCODE 34 229 1067 33 162 GenPod/NEWMEDS 5939 477 5462 Harvard i2b2 902 460 442" . _:3b252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "PI Harvard i2b2 Assoc Prof Roy H Perlis Massachusetts General Hospital USA" . _:3b262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000138"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276" . _:3b272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22472876"; "A mega-analysis of genome-wide association studies for major depressive disorder."; "PMID:22472876", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Funding for the Harvard i2b2 sample was provided by a subcontract to RH Perlis and JW Smoller as part of the i2b2 Center (Informatics for Integrating Biology and the Bedside), an NIH-funded National Center for Biomedical Computing based at Partners HealthCare System (U54LM008748, PI: IS Kohane), and by an NIMH Grant to RH Perlis (MH086026)." . _:3b282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A major depressive disorder case-control sample of the Psychiatric Genomics Consortium from the Partners HealthCare System in the United States, assembled with the i2b2 (Informatics for Integrating Biology and the Bedside) centre, whose cases were identified by natural language processing of electronic medical records with psychiatrist review (an ICD-9 diagnosis of major depressive disorder, confirmed on record review, with depression either responsive to an SSRI or unresponsive to at least two antidepressant trials) and whose controls came from neuroimaging studies, screened by self-reported psychiatric history."; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0090-3/MediaObjects/41588_2018_90_MOESM3_ESM.xlsx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 806; "MDD cases and controls of the PGC29 cohort i2b3 (the Harvard i2b2 sample), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0594-5/MediaObjects/41588_2020_594_MOESM1_ESM.pdf"; rdfs:comment "i2b2 i2b3 806 1067 1873 1 No" . _:3b2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1067; "MDD cases and controls of the PGC29 cohort i2b3 (the Harvard i2b2 sample), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0594-5/MediaObjects/41588_2020_594_MOESM1_ESM.pdf"; rdfs:comment "i2b2 i2b3 806 1067 1873 1 No" . _:3b2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1873; "MDD cases and controls of the PGC29 cohort i2b3 (the Harvard i2b2 sample), 2018"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0594-5/MediaObjects/41588_2020_594_MOESM1_ESM.pdf"; rdfs:comment "i2b2 i2b3 806 1067 1873 1 No" . _:3b2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "i2b2"; . _:3b2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "i2b2-TRD"; . _:3b2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "i2b3"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. No paper names the id, but every Icelandic genetic sample of advanced atrioventricular block is a deCODE genetics case set, drawn from Icelanders in deCODE's studies (PMID:20062063, PMID:23583979): the sample is part of the deCODE genetics Icelandic cohort. The Catalog's name describes only that disease subset and is not carried over. Replaced by COHO:0000428 (deCODE genetics Icelandic cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Icelandic Atrioventricular Block Sample"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Icelandic atrial fibrillation sample is a deCODE genetics case set, described under that name in deCODE's papers (PMID:30271950) and listed under deCODE in PMID:30061737: it is part of the deCODE genetics Icelandic cohort. The Catalog's name describes only that disease subset and is not carried over. Replaced by COHO:0000428 (deCODE genetics Icelandic cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Icelandic Atrial Fibrillation Sample"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16732, _:genid-371333f489424440b12a13b9d98ced822608-genid16734; , , ; "PGS019953", "PMID:30482948"; "A family study of alcohol dependence in Ireland and Northern Ireland that between 1998 and 2002 recruited probands meeting DSM-IV criteria for alcohol dependence, ascertained in community alcoholism treatment facilities and public and private hospitals and with all four grandparents born in Ireland or Great Britain, together with their siblings and parents, all interviewed by clinically trained interviewers, probands and siblings with a modified Semi-Structured Assessment for the Genetics of Alcoholism and parents with a modified Structured Clinical Interview for DSM."; 1414; "GFG, Irish Affected Sib Pair Study of Alcohol Dependence", "IASPSAD", "Irish Affected Sib-Pair Study of Alcohol Dependence"; ; rdfs:label "Irish Affected Sib Pair Study of Alcohol Dependence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16732 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16734 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16732; "alcohol dependence"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2665790/"; rdfs:comment "Probands were eligible for study inclusion if they met the current DSM-IV criteria for AD and if all four grandparents had been born in Ireland, Northern Ireland, Scotland, Wales, or England." . _:3b302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16734; "alcohol dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15770118+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This article is the first report of the Irish Affected Sib Pair Study of Alcohol Dependence, whose goal is to detect the genomic location of susceptibility loci for alcohol dependence (AD)." . _:3b312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; rdfs:comment "Participants in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD)42 were recruited in Ireland and Northern Ireland between 1998 and 2002." . _:3b322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS019953"; "Alcohol is neither a risk factor nor a protective factor for sudden cardiac death and/or fatal ventricular arrhythmia: A population-based study with genetic traits and alcohol consumption in the UK Biobank."; "PMID:38697272" . _:3b332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30482948"; "Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders."; "PMID:30482948", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; rdfs:comment "Participants in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD)42 were recruited in Ireland and Northern Ireland between 1998 and 2002." . _:3b342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of alcohol dependence in Ireland and Northern Ireland that between 1998 and 2002 recruited probands meeting DSM-IV criteria for alcohol dependence, ascertained in community alcoholism treatment facilities and public and private hospitals and with all four grandparents born in Ireland or Great Britain, together with their siblings and parents, all interviewed by clinically trained interviewers, probands and siblings with a modified Semi-Structured Assessment for the Genetics of Alcoholism and parents with a modified Structured Clinical Interview for DSM."; "PMID:15770118", "PMID:18331377", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41593-018-0275-1/MediaObjects/41593_2018_275_MOESM4_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1414; "individuals interviewed (probands, affected siblings and parents) from 591 families"; "PMID:15770118"; rdfs:comment "Structured diagnostic interviews were conducted with 1414 individuals from 591 families ascertained in Ireland." . _:3b362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IASPSAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16742; , ; ; "PGS000349", "PMID:19198609"; "A prospective, nationwide case-control study of early-onset myocardial infarction involving 125 coronary care units in Italy, whose cases were patients hospitalised for a first myocardial infarction before the age of 45 who underwent coronary angiography and whose controls were healthy, unrelated blood donors or staff of the same hospitals, matched by age, sex and geographical origin, recruited between 1994 and 2007."; 1693; 1668; "ATVB", "IATVB", "Italian ATVB Study", "Italian Atherosclerosis Thrombosis and Vascular Biology", "Italian Atherosclerosis, Thrombosis and Vascular Biology Study"; ; rdfs:label "Italian Atherosclerosis, Thrombosis, and Vascular Biology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16742 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16742; "early-onset myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The cases were patients who were hospitalised for a first MI before the age of 45 years and underwent coronary angiography." . _:3b382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "IATVB1 is a prospective, nationwide, case-control study involving 125 coronary care units in Italy." . _:3b392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000349"; "Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study."; "PMID:32912153" . _:3b3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19198609"; "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants."; "PMID:19198609", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3b3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, nationwide case-control study of early-onset myocardial infarction involving 125 coronary care units in Italy, whose cases were patients hospitalised for a first myocardial infarction before the age of 45 who underwent coronary angiography and whose controls were healthy, unrelated blood donors or staff of the same hospitals, matched by age, sex and geographical origin, recruited between 1994 and 2007."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1693; "Stage 1 early-onset MI genetic analysis sample in MIGen 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2681011/"; rdfs:comment "Study Italian ATVB Study Heart Attack Risk in Puget Sound REGICOR MGH Premature Coronary Artery Disease Study FINRISK Malmö Diet and Cancer Study cases controls cases controls cases controls cases controls cases controls cases controls N 1,693 1,668 505 559 312 317 204 260 167 172 86 99" . _:3b3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1668; "Stage 1 early-onset MI genetic analysis sample in MIGen 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2681011/"; rdfs:comment "Study Italian ATVB Study Heart Attack Risk in Puget Sound REGICOR MGH Premature Coronary Artery Disease Study FINRISK Malmö Diet and Cancer Study cases controls cases controls cases controls cases controls cases controls cases controls N 1,693 1,668 505 559 312 317 204 260 167 172 86 99" . _:3b3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ATVB"; . _:3b3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IATVB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16752, _:genid-371333f489424440b12a13b9d98ced822608-genid16754; , , , , ; , , , , , , , , , , , , ; ; "PGS000004", "PMID:32665703"; "An international collaborative prospective cohort study of carriers of BRCA1 or BRCA2 pathogenic variants that pools nationwide and centre-based carrier studies, including EMBRACE in the United Kingdom and Ireland, GENEPSO in France and HEBON in the Netherlands and smaller studies in other European countries and Quebec, Canada; participants were recruited from cancer genetics centres between 1997 and 2011 and followed actively by questionnaire and, where possible, by pathology, cancer and death registry linkage and medical records, to study breast and ovarian cancer risks and their modifiers in carriers."; 1593; "IBCCS", "International BRCA1/2 carirer cohort study"; ; rdfs:label "International BRCA1/2 Carrier Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16752 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16754 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16752; "breast cancer"; "https://doi.org/10.1186/bcr93"; rdfs:comment "Any identified carrier of a presumed disease predisposing mutation in either the BRCA1 or BRCA2 gene is potentially eligible to be enrolled." . _:3b412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16754; "ovarian cancer"; "https://doi.org/10.1186/bcr93"; rdfs:comment "Any identified carrier of a presumed disease predisposing mutation in either the BRCA1 or BRCA2 gene is potentially eligible to be enrolled." . _:3b422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=17635951&retmode=xml"; rdfs:comment "Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group." . _:3b432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6966793/fullTextXML"; rdfs:comment "Other studies: MUV-Austria, INHERIT, OUH, GC-HBOC, NIO-Hungary, CNIO, HCSC, LUND-BRCA, STOCKHOLM-BRCA, IHCC, and MODSQUAD (see Additional file 1: Table S1 for details)Table 2Characteristics of the cohort of BRCA1 and BRCA2 mutation carriersBRCA1 mutation carriersBRCA2 mutation carriersUnaffected women (N = 2003)Women with breast cancer (N = 269)Unaffected women (N = 1448)Women with breast cancer (N = 157)Total person-years of follow-up11,20711347286600Person-years of follow-up (mean (sd))5.60 (3.67)4.21 (3.27)5.03 (3.44)3.82 (3.08)Age at start of follow-up (mean (sd))37.51 (11.80)40.68 (10.25)40.00 (12.53)45.14 (10.11)Age at diagnosis/censoring (mean (sd))43.10 (12.28)44.90 (10.33)45.00 (13.00)48.97 (10.30)Reason for censoring Breast cancer02690157 Ovarian cancer493a91a Other cancer455a282a RRM299–181– Death5–8– Unaffected at last follow-up time1605–1222–Year of birth ≤ 1960604 (83.54)119 (16.46)500 (84.75)90 (15.25) > 19601399 (90.32)150 (9.68)948 (93.40)67 (6.60)Menopausal status Premenopausal at censoringb Last informationc after censoring5126934435 Last information before censoringd5855847335 Postmenopausal Natural menopause age known1942718231 Natural menopause age unknown5071 Post-hysterectomy70126411 Unknown menopausal status6213338RRSO status at censoring No RRSO Last information after censoring66411046779 Last information before censoring6184453527 RRSO72111544651 As reason for menopausee5749034536 After natural menopause101187610 After hysterectomy467255RRSO risk-reducing salpingo-oophorectomy, RRM risk-reducing mastectomyaDiagnosed at the same time as breast cancerbFifteen women did not report age at menopause but were older than 60 years at the end of follow-upcInformation from questionnaire and record linkagedAge last known to be premenopausal mean 32.3 years, median 31 years for BRCA1 mutation carriers: mean 33.9, median 34 years for BRCA2 mutation carriers." . _:3b442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6966793/fullTextXML"; rdfs:comment "Other studies: MUV-Austria, INHERIT, OUH, GC-HBOC, NIO-Hungary, CNIO, HCSC, LUND-BRCA, STOCKHOLM-BRCA, IHCC, and MODSQUAD (see Additional file 1: Table S1 for details)Table 2Characteristics of the cohort of BRCA1 and BRCA2 mutation carriersBRCA1 mutation carriersBRCA2 mutation carriersUnaffected women (N = 2003)Women with breast cancer (N = 269)Unaffected women (N = 1448)Women with breast cancer (N = 157)Total person-years of follow-up11,20711347286600Person-years of follow-up (mean (sd))5.60 (3.67)4.21 (3.27)5.03 (3.44)3.82 (3.08)Age at start of follow-up (mean (sd))37.51 (11.80)40.68 (10.25)40.00 (12.53)45.14 (10.11)Age at diagnosis/censoring (mean (sd))43.10 (12.28)44.90 (10.33)45.00 (13.00)48.97 (10.30)Reason for censoring Breast cancer02690157 Ovarian cancer493a91a Other cancer455a282a RRM299–181– Death5–8– Unaffected at last follow-up time1605–1222–Year of birth ≤ 1960604 (83.54)119 (16.46)500 (84.75)90 (15.25) > 19601399 (90.32)150 (9.68)948 (93.40)67 (6.60)Menopausal status Premenopausal at censoringb Last informationc after censoring5126934435 Last information before censoringd5855847335 Postmenopausal Natural menopause age known1942718231 Natural menopause age unknown5071 Post-hysterectomy70126411 Unknown menopausal status6213338RRSO status at censoring No RRSO Last information after censoring66411046779 Last information before censoring6184453527 RRSO72111544651 As reason for menopausee5749034536 After natural menopause101187610 After hysterectomy467255RRSO risk-reducing salpingo-oophorectomy, RRM risk-reducing mastectomyaDiagnosed at the same time as breast cancerbFifteen women did not report age at menopause but were older than 60 years at the end of follow-upcInformation from questionnaire and record linkagedAge last known to be premenopausal mean 32.3 years, median 31 years for BRCA1 mutation carriers: mean 33.9, median 34 years for BRCA2 mutation carriers." . _:3b452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6966793/fullTextXML"; rdfs:comment "Other studies: MUV-Austria, INHERIT, OUH, GC-HBOC, NIO-Hungary, CNIO, HCSC, LUND-BRCA, STOCKHOLM-BRCA, IHCC, and MODSQUAD (see Additional file 1: Table S1 for details)Table 2Characteristics of the cohort of BRCA1 and BRCA2 mutation carriersBRCA1 mutation carriersBRCA2 mutation carriersUnaffected women (N = 2003)Women with breast cancer (N = 269)Unaffected women (N = 1448)Women with breast cancer (N = 157)Total person-years of follow-up11,20711347286600Person-years of follow-up (mean (sd))5.60 (3.67)4.21 (3.27)5.03 (3.44)3.82 (3.08)Age at start of follow-up (mean (sd))37.51 (11.80)40.68 (10.25)40.00 (12.53)45.14 (10.11)Age at diagnosis/censoring (mean (sd))43.10 (12.28)44.90 (10.33)45.00 (13.00)48.97 (10.30)Reason for censoring Breast cancer02690157 Ovarian cancer493a91a Other cancer455a282a RRM299–181– Death5–8– Unaffected at last follow-up time1605–1222–Year of birth ≤ 1960604 (83.54)119 (16.46)500 (84.75)90 (15.25) > 19601399 (90.32)150 (9.68)948 (93.40)67 (6.60)Menopausal status Premenopausal at censoringb Last informationc after censoring5126934435 Last information before censoringd5855847335 Postmenopausal Natural menopause age known1942718231 Natural menopause age unknown5071 Post-hysterectomy70126411 Unknown menopausal status6213338RRSO status at censoring No RRSO Last information after censoring66411046779 Last information before censoring6184453527 RRSO72111544651 As reason for menopausee5749034536 After natural menopause101187610 After hysterectomy467255RRSO risk-reducing salpingo-oophorectomy, RRM risk-reducing mastectomyaDiagnosed at the same time as breast cancerbFifteen women did not report age at menopause but were older than 60 years at the end of follow-upcInformation from questionnaire and record linkagedAge last known to be premenopausal mean 32.3 years, median 31 years for BRCA1 mutation carriers: mean 33.9, median 34 years for BRCA2 mutation carriers." . _:3b462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=17635951&retmode=xml"; rdfs:comment "Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group." . _:3b472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "IBCCS study participants were recruited between 1997 and 2011 from 18 European cancer genetics centres and Quebec, Canada." . _:3b482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "MODSQUAD | Modifier Study of Quantitative Effects on Disease | CZECH REPUBLIC | | | | 68 | 106" . _:3b492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "Most women were recruited through large national studies in the United Kingdom, Netherlands and France." . _:3b4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "GC-HBOC | German Familial Breast Group | GERMANY | 673 | 1145 | | 54 | 111" . _:3b4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6966793/fullTextXML"; rdfs:comment "Other studies: MUV-Austria, INHERIT, OUH, GC-HBOC, NIO-Hungary, CNIO, HCSC, LUND-BRCA, STOCKHOLM-BRCA, IHCC, and MODSQUAD" . _:3b4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "EMBRACE | Epidemiological Study of Familial Breast Cancer | UK/IRELAND | 907 | 785 | | 14 | 13" . _:3b4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "Additionally, where possible, passive follow-up by pathology (Denmark and Netherlands), cancer and death registry linkage (Denmark, Netherlands, Sweden and the United Kingdom)" . _:3b4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:3b4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32665703"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/fullTextXML"; rdfs:comment "The BBCC included data from the International BRCA1/2 Carrier Cohort Study (IBCCS), Breast Cancer Family Registry (BCFR), and the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) (details in Supplementary material).2 Only women of European ancestry were included in the analysis." . _:3b502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international collaborative prospective cohort study of carriers of BRCA1 or BRCA2 pathogenic variants that pools nationwide and centre-based carrier studies, including EMBRACE in the United Kingdom and Ireland, GENEPSO in France and HEBON in the Netherlands and smaller studies in other European countries and Quebec, Canada; participants were recruited from cancer genetics centres between 1997 and 2011 and followed actively by questionnaire and, where possible, by pathology, cancer and death registry linkage and medical records, to study breast and ovarian cancer risks and their modifiers in carriers."; "PMID:31948486", "PMID:32665703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1593; "IBCCS retrospective BRCA1/2-carrier sample in the 2007 oral-contraceptive analysis"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=17635951&retmode=xml"; rdfs:comment "In the International BRCA1/2 Carrier Cohort study (IBCCS), a retrospective cohort of 1,593 BRCA1/2 mutation carriers was analyzed with a weighted Cox regression analysis." . _:3b522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16773; , ; ; "PGS004241", "PMID:26732427"; "A case-control sample of Icelanders assembled by deCODE genetics for genome-wide association studies of urinary bladder cancer, with cases identified through the Icelandic Cancer Registry and recruited from 2001 by trained nurses through special recruitment clinics, donating a blood sample and answering a lifestyle questionnaire, and controls drawn from other ongoing genome-wide studies at deCODE."; 603; 37781; "IBCS", "IBCS-GWAS"; ; rdfs:label "Iceland Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16773 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16773; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "Recruitment of UBC cases was initiated in 2001 and included all prevalent cases as well as newly diagnosed cases from that time." . _:3b542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4817084/"; rdfs:comment "We also obtained genotype data from existing GWAS data for 1724 cases and 265 722 controls from Iceland and 1996 cases and 2853 controls from the Netherlands (9,22) (see the Material and Methods section)." . _:3b552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The 37 781 controls (41% males; mean age 61 years; SD = 21) used in this study consisted of individuals from other ongoing GWAS at deCODE and represent >15% of the adult population of Iceland." . _:3b562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004241"; "Potential utility of risk stratification for multicancer screening with liquid biopsy tests."; "PMID:37087533" . _:3b572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26732427"; "Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry."; "PMID:26732427", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4817084/"; rdfs:comment "The combined data for NCI-GWAS1, NCI-GWAS2, TXBCS-GWAS, IBCS-GWAS, NBCS-GWAS and TaqMan study data for the 13q34 locus marked by SNP rs4907479, are shown in red." . _:3b582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of Icelanders assembled by deCODE genetics for genome-wide association studies of urinary bladder cancer, with cases identified through the Icelandic Cancer Registry and recruited from 2001 by trained nurses through special recruitment clinics, donating a blood sample and answering a lifestyle questionnaire, and controls drawn from other ongoing genome-wide studies at deCODE."; "PMID:21750109", "PMID:26732427"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 603; "Directly genotyped Icelandic bladder cases and paired deCODE controls in the 2011 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "A total of 603 patients (77% males; diagnosed from December 1964 to December 2009) were included in a genome-wide SNP genotyping effort, using the Infinium II assay method and either the Sentrix HumanHap 300 or HumanCNV370-duo BeadChip (Illumina)." . _:3b5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 37781; "Directly genotyped Icelandic bladder cases and paired deCODE controls in the 2011 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The 37 781 controls (41% males; mean age 61 years; SD = 21) used in this study consisted of individuals from other ongoing GWAS at deCODE and represent >15% of the adult population of Iceland." . _:3b5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBCS"; . _:3b5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBCS-GWAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16784; , ; "PGS004913", "PMID:38727677"; "A case-control sample drawn from the Indiana Biobank, the statewide biobank of Indiana University, Purdue University and the University of Notre Dame whose participants are recruited in person from participating clinics and linked to the Indiana Network for Patient Care, comprising participants with chronic liver disease identified from ICD-9/10 codes and confirmed by chart review, among them patients with cirrhosis attributed to alcohol or to metabolic dysfunction-associated steatotic liver disease, and liver disease-free controls without liver-specific codes or abnormal liver tests, assembled for genetic studies of cirrhosis."; 1033; 3239; "IB-Liver", "IB-liver"; ; rdfs:label "Indiana Biobank Liver cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16784; "chronic liver disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "Chronic liver disease cases were identified using ICD9/10 liver disease–specific codes and subsequently confirmed via electronic medical chart review (N=1033)." . _:3b5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004913"; "A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry."; "PMID:38727677" . _:3b5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38727677"; "A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry."; "PMID:38727677", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "It was validated in 2 additional independent cohorts from the UK Biobank with diagnosed ALC (N=467) and high-risk drinking controls (N=8981) and participants in the Indiana Biobank Liver cohort with alcohol-associated liver disease (N=121) and controls without liver disease (N=3239)." . _:3b602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample drawn from the Indiana Biobank, the statewide biobank of Indiana University, Purdue University and the University of Notre Dame whose participants are recruited in person from participating clinics and linked to the Indiana Network for Patient Care, comprising participants with chronic liver disease identified from ICD-9/10 codes and confirmed by chart review, among them patients with cirrhosis attributed to alcohol or to metabolic dysfunction-associated steatotic liver disease, and liver disease-free controls without liver-specific codes or abnormal liver tests, assembled for genetic studies of cirrhosis."; "PMID:38727677"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1033; "chronic liver disease cases confirmed by chart review, and liver disease-free controls, of the Indiana Biobank"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "Chronic liver disease cases were identified using ICD9/10 liver disease–specific codes and subsequently confirmed via electronic medical chart review (N=1033)." . _:3b622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3239; "chronic liver disease cases confirmed by chart review, and liver disease-free controls, of the Indiana Biobank"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11093576/fullTextXML"; rdfs:comment "In total, 3239 IB participants were identified as liver disease–free controls." . _:3b632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IB-Liver"; . _:3b642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IB-liver"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16793, _:genid-371333f489424440b12a13b9d98ced822608-genid16795; , ; "PMID:36239614"; "A population-based inception cohort of all patients newly diagnosed with inflammatory bowel disease (ulcerative colitis or Crohn's disease) from 1990 to 1993 while living in four counties of south-eastern Norway, each matched for age and sex with five controls drawn from the Norwegian Population Register, set up to establish the incidence of the disease in the region and followed prospectively for its natural course at 1, 5, 10, 20 and 30 years."; 843; "IBSEN", "IBSEN study", "Inflammatory Bowel South-Eastern Norway", "Inflammatory Bowel disease in South-Eastern Norway"; rdfs:label "Inflammatory Bowel Disease in South-Eastern Norway"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16795 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16793; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10115228/fullTextXML"; rdfs:comment "The IBSEN cohort included 519 incident patients with ulcerative colitis [UC] and 237 patients with Crohn’s disease [CD] between 1990 and 1993, each matched with five controls." . _:3b662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16795; "ulcerative colitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10115228/fullTextXML"; rdfs:comment "The IBSEN cohort included 519 incident patients with ulcerative colitis [UC] and 237 patients with Crohn’s disease [CD] between 1990 and 1993, each matched with five controls." . _:3b672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10115228/fullTextXML"; rdfs:comment "In summary, all newly diagnosed IBD patients from January 1, 1990 to December 31, 1993 residing in four geographically well-defined areas [counties] in Southeast Norway were included." . _:3b682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36239614"; "Mortality in Patients with Inflammatory Bowel Disease: Results from 30 Years of Follow-up in a Norwegian Inception Cohort (the IBSEN study)."; "PMID:36239614", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10115228/fullTextXML"; rdfs:comment "The IBSEN cohort included 519 incident patients with ulcerative colitis [UC] and 237 patients with Crohn’s disease [CD] between 1990 and 1993, each matched with five controls." . _:3b692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based inception cohort of all patients newly diagnosed with inflammatory bowel disease (ulcerative colitis or Crohn's disease) from 1990 to 1993 while living in four counties of south-eastern Norway, each matched for age and sex with five controls drawn from the Norwegian Population Register, set up to establish the incidence of the disease in the region and followed prospectively for its natural course at 1, 5, 10, 20 and 30 years."; "PMID:36239614", "PMID:41531802"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 843; "IBD patients included during the 1990-1993 inclusion period"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12791208/fullTextXML"; rdfs:comment "During the 4-year inclusion period, 45% of 843 IBSEN patients were included in the EC database." . _:3b6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IBSEN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16802; ; , ; "PGS000004", "PMID:38672660"; "An umbrella repository of collaborative cancer-specific registries, among them the Pancreatic Cancer Collaborative Registry, the Breast Cancer Collaborative Registry and the Thyroid Cancer and Tumor Collaborative Registry, developed and maintained by the Fred & Pamela Buffett Cancer Center at the University of Nebraska Medical Center in Omaha, through which participating hospitals in the Midwestern United States enrol cancer patients, high-risk individuals and controls and collect questionnaire data on a common core of demographic, lifestyle, family history and quality-of-life items, clinical and follow-up data and biospecimens for cancer research."; "iCaRe2", "integrated Cancer Data Repository for Cancer research"; ; rdfs:label "integrated Cancer Repository for Cancer Research"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16802; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4856228/fullTextXML"; rdfs:comment "These data should be longitudinal, have broad geographical coverage, and be collected from patients diagnosed with different types of cancer, high-risk individuals, and normal controls." . _:3b6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6611482/fullTextXML"; rdfs:comment "The BCCR, which is a part of the integrated Cancer Repository for Cancer Research (iCaRe2), was developed in collaboration with breast cancer experts and research questions were standardized to satisfy the needs of all the centers" . _:3b6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11048743/fullTextXML"; rdfs:comment "The US-based BC-positive cases (n = 321) were sourced from the integrated Cancer Repository for Cancer Research (iCaRe2) and the Breast Cancer Collaborative Registry (BCCR), situated in the Midwestern United States [19]." . _:3b6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation."; "PMID:38672660" . _:3b702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38672660"; "Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation."; "PMID:38672660", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11048743/fullTextXML"; rdfs:comment "The US-based BC-positive cases (n = 321) were sourced from the integrated Cancer Repository for Cancer Research (iCaRe2) and the Breast Cancer Collaborative Registry (BCCR), situated in the Midwestern United States [19]." . _:3b712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An umbrella repository of collaborative cancer-specific registries, among them the Pancreatic Cancer Collaborative Registry, the Breast Cancer Collaborative Registry and the Thyroid Cancer and Tumor Collaborative Registry, developed and maintained by the Fred & Pamela Buffett Cancer Center at the University of Nebraska Medical Center in Omaha, through which participating hospitals in the Midwestern United States enrol cancer patients, high-risk individuals and controls and collect questionnaire data on a common core of demographic, lifestyle, family history and quality-of-life items, clinical and follow-up data and biospecimens for cancer research."; "PMID:27168721", "PMID:31303884", "PMID:38672660"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iCaRe2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16810; , ; , , , , ; "PMID:28072414"; "A consortium of investigators in the United States, the United Kingdom and Sweden, established to accelerate genome-wide association studies of bipolar disorder and its clinical subtypes by applying high-throughput phenotyping methods, which brings together bipolar disorder cases and unaffected controls from the Sweden Bipolar Disorder Cohort, the Bipolar Disorder Research Network in the United Kingdom, a University of Southern California collection and a Massachusetts General Hospital collection identified from electronic health records, all genotyped at the Broad Institute."; 6447; 12639; "ICCBD"; rdfs:label "International Cohort Collection for Bipolar Disorder"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16810 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16810; "bipolar disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5545718/fullTextXML"; rdfs:comment "The ICCBD includes BD cases and unaffected controls from the Sweden Bipolar Disorder Cohort (SWEBIC), the Bipolar Disorder Research Network (BDRN) in the United Kingdom, and the Genomic Psychiatry Consortium (GPC) from the University of Southern California." . _:3b742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5545718/fullTextXML"; rdfs:comment "The ICCBD includes BD cases and unaffected controls from the Sweden Bipolar Disorder Cohort (SWEBIC), the Bipolar Disorder Research Network (BDRN) in the United Kingdom, and the Genomic Psychiatry Consortium (GPC) from the University of Southern California." . _:3b752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5545718/fullTextXML"; rdfs:comment "The ICCBD includes BD cases and unaffected controls from the Sweden Bipolar Disorder Cohort (SWEBIC), the Bipolar Disorder Research Network (BDRN) in the United Kingdom, and the Genomic Psychiatry Consortium (GPC) from the University of Southern California." . _:3b762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5904248/fullTextXML"; rdfs:comment "Cases and controls were collected as part of the International Cohort Collection for Bipolar Disorder (ICCBD), a US, UK, and Swedish consortium established to accelerate genomic studies of BD by applying high throughput phenotyping methods7,10." . _:3b772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28072414"; "Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder."; "PMID:28072414", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28072414+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD)." . _:3b782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of investigators in the United States, the United Kingdom and Sweden, established to accelerate genome-wide association studies of bipolar disorder and its clinical subtypes by applying high-throughput phenotyping methods, which brings together bipolar disorder cases and unaffected controls from the Sweden Bipolar Disorder Cohort, the Bipolar Disorder Research Network in the United Kingdom, a University of Southern California collection and a Massachusetts General Hospital collection identified from electronic health records, all genotyped at the Broad Institute."; "PMID:28072414", "PMID:29666432"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6447; "bipolar disorder cases and controls of the SWEBIC, BDRN and USC (GPC) sites in the 2017 ICCBD GWAS, after quality control"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28072414+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD)." . _:3b7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12639; "bipolar disorder cases and controls of the SWEBIC, BDRN and USC (GPC) sites in the 2017 ICCBD GWAS, after quality control"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28072414+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD)." . _:3b7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICCBD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16820; , ; ; "PMID:23935489"; "A cohort of people with acute or recent HIV-1 infection in Barcelona, Spain, held by the IrsiCaixa Foundation (IrsiCaixa AIDS Research Institute), one of the cohorts that contributed HIV-1-infected participants to the genome-wide studies of the International Collaboration for the Genomics of HIV."; "ICFA", "IrsiCaixa Foundation Acute/Recent HIV-1 Infection cohort"; rdfs:label "IrsiCaixa Foundation Acute/Recent HIV-1 Infection Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16820 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16820; "acute/recent HIV-1 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The IrsiCaixa Foundation Acute/Recent HIV-1 Infection cohort in Barcelona, Spain" . _:3b7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The IrsiCaixa Foundation Acute/Recent HIV-1 Infection cohort in Barcelona, Spain" . _:3b7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23935489"; "Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls."; "PMID:23935489", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The IrsiCaixa Foundation Acute/Recent HIV-1 Infection cohort in Barcelona, Spain" . _:3b7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of people with acute or recent HIV-1 infection in Barcelona, Spain, held by the IrsiCaixa Foundation (IrsiCaixa AIDS Research Institute), one of the cohorts that contributed HIV-1-infected participants to the genome-wide studies of the International Collaboration for the Genomics of HIV."; "PMID:23935489"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICFA"; . a owl:NamedIndividual, ; ; "PMID:28440896"; "The Alcohol Related Conditions (ARC) subset of the genome-wide association data set of the International Consortium on the Genetics of Heroin Dependence, a case-control study of heroin dependence held in dbGaP as phs000277; it is one of the three subsets of that data set, which were genotyped on three different arrays, and was genotyped on the Illumina HumanCNV370-Quad."; "ARC", "Alcohol Related Conditions", "ICGHD ARC", "ICGHD_ARC"; rdfs:label "International Consortium on the Genetics of Heroin Dependence - Alcohol Related Conditions"@en . _:3b812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28440896"; "Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence"; "PMID:28440896", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5656555/"; rdfs:comment "ICGHD ARC phs000277.v1.p1 Illumina HumanCNV370-Quad 306 77 4720266 1.004 0 0 – –" . _:3b822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Alcohol Related Conditions (ARC) subset of the genome-wide association data set of the International Consortium on the Genetics of Heroin Dependence, a case-control study of heroin dependence held in dbGaP as phs000277; it is one of the three subsets of that data set, which were genotyped on three different arrays, and was genotyped on the Illumina HumanCNV370-Quad."; "PMID:28440896", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ARC"; . _:3b842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD ARC"; . _:3b852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD_ARC"; . a owl:NamedIndividual, ; ; "PMID:28440896"; "The Center for Inherited Disease Research (CIDR) subset of the genome-wide association data set of the International Consortium on the Genetics of Heroin Dependence, a case-control study of heroin dependence held in dbGaP as phs000277; it is one of the three subsets of that data set, which were genotyped on three different arrays, and was genotyped on the Illumina Human660W-Quad."; "CIDR", "Center for Inherited Disease Research", "ICGHD CIDR", "ICGHD_CIDR"; rdfs:label "International Consortium on the Genetics of Heroin Dependence - Center for Inherited Disease Research"@en . _:3b862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28440896"; "Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence"; "PMID:28440896", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5656555/"; rdfs:comment "ICGHD CIDR phs000277.v1.p1 Illumina Human660W-Quad 1318 1079 5298585 1.031 0 0 – –" . _:3b872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Center for Inherited Disease Research (CIDR) subset of the genome-wide association data set of the International Consortium on the Genetics of Heroin Dependence, a case-control study of heroin dependence held in dbGaP as phs000277; it is one of the three subsets of that data set, which were genotyped on three different arrays, and was genotyped on the Illumina Human660W-Quad."; "PMID:28440896", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CIDR"; . _:3b892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD CIDR"; . _:3b8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD_CIDR"; . a owl:NamedIndividual, ; ; "PMID:28440896"; "The Research on Alcohol and Tobacco Related Phenotypes (RATRP) subset of the genome-wide association data set of the International Consortium on the Genetics of Heroin Dependence, a case-control study of heroin dependence held in dbGaP as phs000277; it is one of the three subsets of that data set, which were genotyped on three different arrays, and was genotyped on the Illumina Human610-Quad."; "ICGHD RATRP", "ICGHD_RATRP", "RATRP", "Research on Alcohol and Tobacco Related Phenotypes"; rdfs:label "International Consortium on the Genetics of Heroin Dependence - Research on Alcohol and Tobacco Related Phenotypes"@en . _:3b8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28440896"; "Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence"; "PMID:28440896", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5656555/"; rdfs:comment "ICGHD RATRP phs000277.v1.p1 Illumina Human610_Quad 101 661 4751941 1.017 0 0 – –" . _:3b8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Research on Alcohol and Tobacco Related Phenotypes (RATRP) subset of the genome-wide association data set of the International Consortium on the Genetics of Heroin Dependence, a case-control study of heroin dependence held in dbGaP as phs000277; it is one of the three subsets of that data set, which were genotyped on three different arrays, and was genotyped on the Illumina Human610-Quad."; "PMID:28440896", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD RATRP"; . _:3b8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD_RATRP"; . _:3b8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RATRP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16841; "PMID:28170284"; "A family-based study of chronic obstructive pulmonary disease funded by GlaxoSmithKline, whose pedigrees of probands with COPD and their siblings, characterised by spirometry, serve as a replication and testing cohort in COPD genome-wide association studies and genetic risk-score meta-analyses (1,103 pedigrees in the 2017 meta-analysis of 16,707 subjects)."; 3117; "ICGN"; rdfs:label "International COPD Genetics Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16841 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16841; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2650282/fullTextXML"; rdfs:comment "In the multi-center ICGN study [22],[23] subjects with known COPD were recruited as probands, and siblings and available parents were ascertained through the probands." . _:3b912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28170284"; "Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects."; "PMID:28170284", "https://europepmc.org/api/getPdf?pmcid=PMC5516277"; rdfs:comment "We genotyped 3,346 SNPs (see the online supplement) in 5,358 subjects from 4 cohorts: the Transcontinental COPD Genetics Study (TCGS)–Korea and TCGS-Poland (26), the International COPD Genetics Network (ICGN) (27, 28), and the Boston Early- Onset COPD Study (29)." . _:3b922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of chronic obstructive pulmonary disease funded by GlaxoSmithKline, whose pedigrees of probands with COPD and their siblings, characterised by spirometry, serve as a replication and testing cohort in COPD genome-wide association studies and genetic risk-score meta-analyses (1,103 pedigrees in the 2017 meta-analysis of 16,707 subjects)."; "PMID:19300482", "PMID:28170284", "PMID:34855941"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:3b932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3117; "subjects (COPD probands and siblings) genotyped (2009)"; "PMID:19800047"; rdfs:comment "We demonstrated replication of association for these seven IREB2 SNPs (all p values < or = 0.02) in a family-based study of 3117 subjects from the International COPD Genetics Network" . _:3b942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16847; , ; ; "PGS000004", "PMID:26884359"; "A UK case-control study of genetic predisposition to ductal carcinoma in situ (DCIS) of the breast, which between 2007 and 2012 recruited women aged 60 or under with a current or past diagnosis of DCIS, identified from local pathology reports at more than 100 hospitals throughout the United Kingdom, and healthy controls without a family history of breast cancer (often friends or non-blood relatives of cases), with a blood sample and a questionnaire on reproductive, medical and family history and hormone use."; 3136; "A study to Investigate the genetiCs of In situ Carcinoma of the ductaL subtypE", "ICICLE", "ICICLE study", "Study to Investigate the Genetics on In Situ Carcinoma of the Ductal", "study to Investigate the genetics of In situ Carcinoma of the ductaL subtype"; ; rdfs:label "Study to investigate the genetics of in situ carcinoma of the ductal subtype"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16847 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16847; "ductal carcinoma in situ"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12580823/fullTextXML"; rdfs:comment "The ICICLE study was a case–control study recruiting DCIS cases and healthy controls without a family history of breast cancer between 2007 and 2012 (ethically approved by the Southampton and South West Hampshire Research Ethics Committee A under MREC reference: 08/H0502/4)." . _:3b962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12580823/fullTextXML"; rdfs:comment "Cases and controls were recruited from more than 100 hospitals throughout the United Kingdom, and 3,136 DCIS cases were recruited to ICICLE, whereas 340 pure LCIS cases were recruited to GLACIER." . _:3b972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:3b982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26884359"; "Genetic predisposition to ductal carcinoma in situ of the breast."; "PMID:26884359", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4756509/fullTextXML"; rdfs:comment "The ICICLE study recruited patients from participating centers throughout the UK with the aim of identifying predisposition genes for DCIS." . _:3b992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK case-control study of genetic predisposition to ductal carcinoma in situ (DCIS) of the breast, which between 2007 and 2012 recruited women aged 60 or under with a current or past diagnosis of DCIS, identified from local pathology reports at more than 100 hospitals throughout the United Kingdom, and healthy controls without a family history of breast cancer (often friends or non-blood relatives of cases), with a blood sample and a questionnaire on reproductive, medical and family history and hormone use."; "PMID:26884359", "PMID:41028956"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3b9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3136; "DCIS cases recruited to ICICLE, 2007-2012 (controls not counted)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12580823/fullTextXML"; rdfs:comment "Cases and controls were recruited from more than 100 hospitals throughout the United Kingdom, and 3,136 DCIS cases were recruited to ICICLE, whereas 340 pure LCIS cases were recruited to GLACIER." . _:3b9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICICLE"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. ICO is the Institut Català d'Oncologia (Catalan Institute of Oncology), a cancer centre in Catalonia, Spain. In the PGS Catalog it labels unnamed site samples: in every CIMBA paper (PMID:28448241, 32665703, 34320204 and the source GWAS PMID:28346442, 29058716) it is the ICO Hereditary Cancer Program's BRCA1/2 pathogenic-variant carriers contributed to CIMBA (COHO:0000901), and in PMID:37321833 it is the ICO's series of Lynch syndrome carriers plus Spanish controls ('Patients were recruited based on the fulfilment of Bethesda or Amsterdam criteria or via an EC and CRC-based LS screening programme (since 2016 at the ICO).'). Neither sample has a study name of its own. This follows the review's decisions for other institution-named CIMBA sites (MSKCC, UPENN, BRICOH, Chicago, FCCC, OUH): not a cohort. Not the HVH, PBCS, kConFab or deCODE terms the automatic matching suggested (those are other CIMBA/BCAC ids in the same tables). The ICO Breast Cancer Cohort (PMID:40282542) is a separate clinical cohort that the PGS Catalog does not record. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Institut Català d'Oncologia"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16855; , , , , , , , , , , ; "PMID:41908051"; "A population-based survey of blood pressure, hypertension and associated risk factors such as obesity among adults of West African origin living in societies at different stages of social and economic development, which examined age-stratified samples at seven sites in Nigeria, Cameroon, Jamaica, St. Lucia, Barbados and metropolitan Chicago in the United States under a standardized protocol with centrally trained field staff; its Nigerian base sample, recruited in Ibadan and Igbo-Ora in Oyo State, later provided the sampling frame for genotyped cohorts."; 10014; "ICSHIB"; rdfs:label "International Collaborative Study on Hypertension in Blacks"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16855 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3b9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16855; "hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9103091+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study was undertaken to describe the distribution of blood pressures, hypertension prevalence, and associated risk factors among seven populations of West African origin." . _:3b9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9103091+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The rates of hypertension in West Africa (Nigeria and Cameroon), the Caribbean (Jamaica, St. Lucia, Barbados), and the United States (metropolitan Chicago, Illinois) were compared on the basis of a highly standardized collaborative protocol." . _:3b9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41908051"; "Pathway-specific polygenic risk scores for blood pressure traits in a West African cohort."; "PMID:41908051", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41908051+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All participants were recruited from the International Collaborative Study on Hypertension in Blacks." . _:3b9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based survey of blood pressure, hypertension and associated risk factors such as obesity among adults of West African origin living in societies at different stages of social and economic development, which examined age-stratified samples at seven sites in Nigeria, Cameroon, Jamaica, St. Lucia, Barbados and metropolitan Chicago in the United States under a standardized protocol with centrally trained field staff; its Nigerian base sample, recruited in Ibadan and Igbo-Ora in Oyo State, later provided the sampling frame for genotyped cohorts."; "PMID:41908051", "PMID:8581794", "PMID:8793366", "PMID:9103091"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ba02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10014; "Adults examined at seven sites in the original ICSHIB hypertension survey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9103091+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "After researchers were given central training in survey methods, population-based samples of 800 to 2500 adults over the age of 25 were examined in seven sites, yielding a total sample of 10014." . _:3ba12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICSHIB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16862; , ; ; "PMID:26039689"; "A prospective single-centre cohort that has enrolled, since 1997, all patients with acute or recent HIV-1 infection (within 180 days of infection) evaluated at the Hospital Clínic in Barcelona, Spain, identified by detectable viraemia with a negative HIV serology or by documented seroconversion within the previous six months."; 346; "Hospital Clinic Primary HIV-1 Infection Cohort", "Hospital Clinic-IDIBAPS Acute/Recent HIV-1 Infection Cohort", "Hospital Clinic-IDIBAPS Acute/Recent HIV-1 Infection cohort", "Hospital Clinic-IDIBAPS cohort", "IDIBAPS"; rdfs:label "Hospital Clínic Primary HIV-1 Infection Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ba22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16862; "acute/recent HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30472421+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Prospective, single-centre cohort including all patients with an acute/recent HIV infection (<180 days) since 1997." . _:3ba32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4454638/fullTextXML"; rdfs:comment "The study population comprised patients from the “Hospital Clinic Primary HIV-1 Infection Cohort” consecutively evaluated within 180 days after HIV infection at the Hospital Clínic, Barcelona, Spain, between January 1, 1997 and December 31, 2012." . _:3ba42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26039689"; "Trends in Transmission of Drug Resistance and Prevalence of Non-B Subtypes in Patients with Acute or Recent HIV-1 Infection in Barcelona in the Last 16 Years (1997-2012)."; "PMID:26039689", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4454638/fullTextXML"; rdfs:comment "The study population comprised patients from the “Hospital Clinic Primary HIV-1 Infection Cohort” consecutively evaluated within 180 days after HIV infection at the Hospital Clínic, Barcelona, Spain, between January 1, 1997 and December 31, 2012." . _:3ba52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective single-centre cohort that has enrolled, since 1997, all patients with acute or recent HIV-1 infection (within 180 days of infection) evaluated at the Hospital Clínic in Barcelona, Spain, identified by detectable viraemia with a negative HIV serology or by documented seroconversion within the previous six months."; "PMID:26039689", "PMID:30472421"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ba62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 346; "consecutive patients with acute/recent HIV-1 infection enrolled 1997-2015"; "PMID:30472421"; rdfs:comment "A total of 346 consecutive acute/recently infected patients were included." . _:3ba72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDIBAPS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Icelandic ECG sample is deCODE genetics' set of genotyped Icelanders with stored electrocardiograms from Landspitali University Hospital, listed as 'Study cohort: deCODE' in PMID:30012220: it is part of the deCODE genetics Icelandic cohort. The Catalog's name describes only that subset and is not carried over. Replaced by COHO:0000428 (deCODE genetics Icelandic cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Icelandic ECG study sample"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. IFS is the Indiana Fragility Study (PMID:24064335), premenopausal white sister pairs from Indiana: the sample COHO holds as the Indiana Sisters Study. The Catalog's name for it, Irish Family Study, is wrong and is not carried over. Replaced by COHO:0000099 (Indiana Sisters Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Irish Family Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16869; , ; ; "PMID:20597690"; "A nationwide, multicentre, observational prospective cohort of people with HIV in Italy, set up in 1997, that enrols adults who are naive to antiretroviral therapy at enrolment through Italian infectious diseases centres and follows them over time; it is run under the ICONA Foundation Study protocol."; 17298; "ICONA", "ICONA Cohort Study", "ICONA Foundation Study", "ICONA cohort", "ICoNA", "IFS_b", "Icona", "Icona Foundation Study", "Icona cohort", "Italian COhort of Naives to Antiretrovirals", "Italian Cohort of naïves to antiretrovirals"; rdfs:label "Italian Cohort Naïve Antiretrovirals"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16869 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ba82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16869; "HIV"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12280848/fullTextXML"; rdfs:comment "The Italian Cohort Naïve Antiretrovirals (ICONA) is an ongoing national HIV cohort set up in 1997 in Italy, enrolling antiretroviral (ART) naïve persons with HIV (PWH) from 57 infectious diseases centers whose Institutional Review Boards approved the ICONA Foundation Study protocol." . _:3ba92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12280848/fullTextXML"; rdfs:comment "The Italian Cohort Naïve Antiretrovirals (ICONA) is an ongoing national HIV cohort set up in 1997 in Italy, enrolling antiretroviral (ART) naïve persons with HIV (PWH) from 57 infectious diseases centers whose Institutional Review Boards approved the ICONA Foundation Study protocol." . _:3baa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20597690"; "Rate of CD4+ cell count increase over periods of viral load suppression: relationship with the number of previous virological failures."; "PMID:20597690", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20597690+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This analysis was based on the ICONA Foundation Study." . _:3bab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide, multicentre, observational prospective cohort of people with HIV in Italy, set up in 1997, that enrols adults who are naive to antiretroviral therapy at enrolment through Italian infectious diseases centres and follows them over time; it is run under the ICONA Foundation Study protocol."; "PMID:40437996", "PMID:40799781"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17298; "people with HIV enrolled with HIV diagnosis 1997-2023 (analysed in the cancer study)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12280848/"; rdfs:comment "General characteristics of 17,298 people living with HIV enrolled in the ICONA Cohort Study: Italy, 1997–2023." . _:3bad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICONA"; . _:3bae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICoNA"; . _:3baf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IFS_b"; . _:3bb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Icona"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Indiana Genetics of Bone Fragility Study is the full name a bone mineral density consortium table (PMID:22504420) gives the Indiana sister-pair study whose GWAS (PMID:20164292) is the Indiana Sisters Study's example. Replaced by COHO:0000099 (Indiana Sisters Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Indiana Genetics of Bone Fragility Study"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. IGE-PCV is a research unit of INSERM and the Université de Lorraine in Nancy, with its biobank, which supplied two different samples to the VEGF GWAS of PMID:26910538: an institution, not a cohort. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Interaction Gåne-Environment en Physiopathologie Cardio-Vasculaire"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The International Hereditary Cancer Centre of the Pomeranian Medical University, Szczecin, is an institution. In every paper the PGS Catalog records the id IHCC in, it labels the centre's contribution of BRCA1 and BRCA2 carriers or cancer cases to consortium analyses such as CIMBA (PMID:29058716), with no study name of its own. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete International Hereditary Cancer Centre"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16879, _:genid-371333f489424440b12a13b9d98ced822608-genid16881; , ; "PMID:38177345"; "A multi-institutional prospective cohort study of stress and depression in physicians in the United States, which invites incoming interns each year before they start the first year of residency training (from 2007) and follows them from the end of medical school through internship, recording depressive and anxiety symptoms and their risk factors by repeated questionnaires and a daily mood smartphone app, with DNA collected by mail for genetic studies of depression under stress."; 740; "HIS", "IHS"; rdfs:label "Intern Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16879 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16881 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16879; "internship stress"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4036806/"; rdfs:comment "The present study seeks to identify the factors important in the development of depression during medical internship and to utilize internship as a stress model to study subjects before and after the onset of a major stressor and assess the moderating effect of 5-HTTLPR on the development of depression." . _:3bb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16881; "depression"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7190044/fullTextXML"; rdfs:comment "The Intern Health Study is a prospective cohort study assessing stress and depression during the first year of residency training in the US." . _:3bb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7190044/fullTextXML"; rdfs:comment "The Intern Health Study is a prospective cohort study assessing stress and depression during the first year of residency training in the US." . _:3bb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38177345"; "Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference."; "PMID:38177345", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10864182/fullTextXML"; rdfs:comment "We had access to individual-level data for Army STARRS, UKB, Women’s Health Initiative (WHI), Intern Health Study (IHS), GERA, Jackson Heart Study (JHS), Drakenstein Child Health Study and the Detroit Neighborhood Health Study." . _:3bb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-institutional prospective cohort study of stress and depression in physicians in the United States, which invites incoming interns each year before they start the first year of residency training (from 2007) and follows them from the end of medical school through internship, recording depressive and anxiety symptoms and their risk factors by repeated questionnaires and a daily mood smartphone app, with DNA collected by mail for genetic studies of depression under stress."; "PMID:31084447", "PMID:31659322", "PMID:31818913"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 740; "interns of the founding 2007-2008 and 2008-2009 cohorts at 13 US hospitals who agreed to take part (the study enrols a new cohort each year), 2007-2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4036806/"; rdfs:comment "58% (740/1271) of the remaining invited subjects agreed to participate in the study." . _:3bb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HIS"; . _:3bb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16889; , ; "PMID:20686651"; "A registry of patients with kidney stone disease in Iceland, kept at Landspitali – The National University Hospital of Iceland in Reykjavik and established in 2008 in conjunction with a nationwide study of kidney stone disease that searched the computerised records of all major hospitals and medical imaging centres in Iceland for codes indicating kidney stones; its patients with confirmed radiopaque stones who had given blood to the genetic research programmes of deCODE genetics were the Icelandic cases of deCODE's genetic association studies of kidney stones."; "IKSDR", "IKSR", "Icelandic Kidney Stone Disease Registry", "Icelandic Kidney Stone Disease Registry at LUH"; rdfs:label "Icelandic Kidney Stone Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16889 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16889; "kidney stone disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2912386/fullTextXML"; rdfs:comment "The Icelandic kidney stone cases consisted of patients with confirmed radiopaque kidney stones from the Icelandic Kidney Stone Disease Registry at LUH." . _:3bba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4551564/fullTextXML"; rdfs:comment "Patients with confirmed recurrent clinical stone disease were recruited from two sources, the Kidney Stone Prevention Clinic at Landspitali – The National University Hospital of Iceland (LUH) in Reykjavik and the Icelandic Kidney Stone Registry (IKSR) which was established in 2008 in conjunction with a nationwide study on kidney stone disease [2]." . _:3bbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20686651"; "Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases."; "PMID:20686651", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2912386/fullTextXML"; rdfs:comment "The Icelandic kidney stone cases consisted of patients with confirmed radiopaque kidney stones from the Icelandic Kidney Stone Disease Registry at LUH." . _:3bbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of patients with kidney stone disease in Iceland, kept at Landspitali – The National University Hospital of Iceland in Reykjavik and established in 2008 in conjunction with a nationwide study of kidney stone disease that searched the computerised records of all major hospitals and medical imaging centres in Iceland for codes indicating kidney stones; its patients with confirmed radiopaque stones who had given blood to the genetic research programmes of deCODE genetics were the Icelandic cases of deCODE's genetic association studies of kidney stones."; "PMID:20686651", "PMID:22992468", "PMID:26316205"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IKSDR"; . _:3bbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IKSR"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The PGS Catalog's full name for ILUH, 'Infanta Leonor University Hospital (Madrid, Spain)', is wrong: in the CIMBA papers the Catalog curated, ILUH is Iceland's Landspitali University Hospital. ILUH is the PGS Catalog's id for the BRCA1/BRCA2 pathogenic-variant carriers contributed to CIMBA (COHO:0000901) by Landspitali University Hospital in Reykjavik, Iceland (PMID:28448241, 34320204, 32665703, 36203093); the Catalog's expansion 'Infanta Leonor University Hospital (Madrid, Spain)' is an error. The sample has no name of its own beyond the hospital, so, like the other institution-named CIMBA sites the review decided (MSKCC, UPENN, BRICOH, Chicago, FCCC, OUH, and E522 ICO in this batch), it is not a cohort. It is not the deCODE genetics Icelandic cohort (COHO:0000428): CIMBA lists it as a clinic-based site sample of mutation carriers. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Infanta Leonor University Hospital (Madrid, Spain)"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. IMM labels the Tohoku Medical Megabank cohort data (the Community-Based Cohort and the Birth and Three-Generation Cohort) analysed by the Iwate group in the papers the PGS Catalog records the id in (PMID:39174808, PMID:40695273). Replaced by COHO:0000533 (Tohoku Medical Megabank Project), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Iwate Tohoku Medical Megabank"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16896; , , , , , ; , , ; "PGS000217", "PMID:33067605"; "A multicentre prospective cohort study of European adults aged 54 to 79 years with at least three vascular risk factors but no previous cardiovascular or cerebrovascular events, enrolled at seven centres in Finland, France, Italy, the Netherlands and Sweden and followed for vascular events by visits at 15 and 30 months and a final telephone interview, to assess carotid intima-media thickness and its progression as predictors of vascular events."; 3711; "Carotid Intima Media Thickness [IMT] and IMT-progression as predictors of vascular events in a high risk European population", "IMPROVE", "IMPROVE study"; ; rdfs:label "Carotid Intima-Media Thickness (IMT) and IMT-Progression as Predictors of Vascular Events in a High-Risk European Population"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16896 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16896; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19952003+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The 'IMPROVE study' was designed to investigate whether cross-sectional carotid artery intima-media thickness (IMT) and overall IMT progression are predictors of new vascular events in European individuals at high risk of cardiovascular diseases." . _:3bc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5567407/fullTextXML"; rdfs:comment "The participants were enrolled at 7 centers in 5 European countries: Finland (Kuopio, 2 centers), France (Paris), Italy (Milan and Perugia), The Netherlands (Groningen) and Sweden (Stockholm)." . _:3bc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000217"; "Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals."; "PMID:33067605" . _:3bc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33067605"; "Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals."; "PMID:33067605", "https://europepmc.org/api/getPdf?pmcid=PMC7611474"; rdfs:comment "In addition, we calculated the inter-plate coefficient of variation using data from a pooled plasma sample in one of the participating cohorts -the IMPROVE study." . _:3bc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort study of European adults aged 54 to 79 years with at least three vascular risk factors but no previous cardiovascular or cerebrovascular events, enrolled at seven centres in Finland, France, Italy, the Netherlands and Sweden and followed for vascular events by visits at 15 and 30 months and a final telephone interview, to assess carotid intima-media thickness and its progression as predictors of vascular events."; "PMID:19952003", "PMID:28602434"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3711; "adults aged 54-79 with at least three vascular risk factors recruited at seven centres in five European countries"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19952003+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3711 subjects (age range 54-79 years) with at least three vascular risk factors (VRFs) were recruited in seven centres in Finland, France, Italy, the Netherlands, and Sweden." . _:3bc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPROVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16904; , ; ; "PGS000809", "PMID:21654844"; "A UK case-control sample of the International Multiple Sclerosis Genetics Consortium, comprising patients with multiple sclerosis (McDonald criteria) of European descent recruited in the United Kingdom and healthy control subjects from the Wellcome Trust Case Control Consortium, genotyped on the Affymetrix 500K platform and used as one stratum of the consortium's genome-wide association meta-analyses."; 453; 2950; "IMSGC-UK", "IMSGC_UK", "International Multiple Sclerosis Genetics Consortium UK"; ; rdfs:label "IMSGC UK"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16904 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16904; "multiple sclerosis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:3bc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:3bc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000809"; "Contribution of common risk variants to multiple sclerosis in Orkney and Shetland."; "PMID:34088990" . _:3bc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21654844"; "Genome-wide association study of severity in multiple sclerosis."; "PMID:21654844", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:3bca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK case-control sample of the International Multiple Sclerosis Genetics Consortium, comprising patients with multiple sclerosis (McDonald criteria) of European descent recruited in the United Kingdom and healthy control subjects from the Wellcome Trust Case Control Consortium, genotyped on the Affymetrix 500K platform and used as one stratum of the consortium's genome-wide association meta-analyses."; "PMID:19525953", "PMID:21654844"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 453; "multiple sclerosis cases and Wellcome Trust Case Control Consortium healthy controls of the IMSGC UK stratum (2011 meta-analysis, Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:3bcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2950; "multiple sclerosis cases and Wellcome Trust Case Control Consortium healthy controls of the IMSGC UK stratum (2011 meta-analysis, Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:3bcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMSGC-UK"; . _:3bce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMSGC_UK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16914; , ; ; "PGS000809", "PMID:21654844"; "The United States stratum of the International Multiple Sclerosis Genetics Consortium's genome-wide association data on multiple sclerosis: people with multiple sclerosis of European descent recruited in the US, genotyped on the Affymetrix 500K array and matched with healthy control subjects from the National Institute of Mental Health, analysed as a separate stratum (beside the consortium's UK stratum) in the consortium's meta-analyses of multiple sclerosis susceptibility and severity."; 342; 1679; "IMSGC-US", "IMSGC_US", "International Multiple Sclerosis Genetics Consortium US"; ; rdfs:label "IMSGC US"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16914; "multiple sclerosis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:3bd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:3bd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000809"; "Contribution of common risk variants to multiple sclerosis in Orkney and Shetland."; "PMID:34088990" . _:3bd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21654844"; "Genome-wide association study of severity in multiple sclerosis."; "PMID:21654844", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3640650/unicode"; rdfs:comment "The MS subjects were recruited from three clinical sites: 453 cases from the UK (IMSGC UK) and 342 cases from the US (IMSGC US); the remaining 860 MS patients were recruited at Partners MS Center in Boston, MA (BWH)." . _:3bd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The United States stratum of the International Multiple Sclerosis Genetics Consortium's genome-wide association data on multiple sclerosis: people with multiple sclerosis of European descent recruited in the US, genotyped on the Affymetrix 500K array and matched with healthy control subjects from the National Institute of Mental Health, analysed as a separate stratum (beside the consortium's UK stratum) in the consortium's meta-analyses of multiple sclerosis susceptibility and severity."; "PMID:19525953", "PMID:21654844"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 342; "multiple sclerosis cases and NIMH healthy controls of the IMSGC US stratum (2011 meta-analysis, Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:3bd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1679; "multiple sclerosis cases and NIMH healthy controls of the IMSGC US stratum (2011 meta-analysis, Table 1)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3247076/"; rdfs:comment "Dataset IMSGC UK* IMSGC US* Gene MSA CH* Gene MSA NL* Gene MSA US* ANZ† BWH/TT§ Number of individuals (cases/controls) 453/2950 342/1679 253/208 230/232 486/431 1618/1988 2313/4857" . _:3bd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMSGC-US"; . _:3bd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMSGC_US"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. INCa is the Institut national du cancer (French National Cancer Institute), France's national cancer agency, which funds, coordinates and publishes cancer data but is not itself a recruited study sample ('The pilot program IMPULSION, launched by the French National Cancer Institute (INCa)...', PMID:41820119, E542.16). The PGS Catalog lists the id among its cohorts but links it to no score or sample set, so there is no paper in which it denotes a sample; nothing names an 'INCa' cohort. Not a cohort. If the Catalog later links it to a sample, it will most likely be an INCa-funded study that should be identified by its own name. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete French National Cancer Institute"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. Indiana cohort is how multi-cohort GWAS (PMID:20541252, PMID:28724990) name the Indiana University sample of premenopausal sister pairs, the Indiana Sisters Study. Replaced by COHO:0000099 (Indiana Sisters Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Indiana cohort"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16924, _:genid-371333f489424440b12a13b9d98ced822608-genid16926; , , ; , ; "PGS005204", "PMID:40691366"; "A nationwide collaborative biorepository of DNA, plasma and serum from people with and without type 2 diabetes in India's two major ethnic groups (Indo-European and Dravidian speakers), collected from 2003 to 2011 with anthropometric and clinical measurements by the Indian Diabetes Consortium to study the genetic, epigenetic and environmental causes of type 2 diabetes in Indians undergoing socioeconomic transition, re-sampling the same areas at intervals to follow the effects of urbanisation."; 2087; 1927; "INDICO", "INdian DIabetes COnsortium"; ; rdfs:label "Indian Diabetes Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16924 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16926 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16924; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1007%2Fs11568-011-9157-2/MediaObjects/11568_2011_9157_MOESM1_ESM.doc"; rdfs:comment "Of the total CURES participants, 2,087 individuals diagnosed with T2D and 1,927 non-diabetic control subjects were included as a part of this consortium." . _:3bd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16926; "lifestyle"; "https://doi.org/10.1007/s11568-011-9157-2"; rdfs:comment "This gives us an unprecedented opportunity to probe the correlation, if any, between genetic and epigenetic changes in the genome and rapid changes in lifestyle." . _:3bda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3238020/"; rdfs:comment "Thus, we initiated a nation-wide collaborative effort by establishing the INdian DIabetes COnsortium (INDICO) for the systematic, comprehensive, and large-scale studies towards the understanding of T2D in India." . _:3bdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005204"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3bdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "The INDICO gratefully acknowledges the contributions of the participants and the study staff." . _:3bdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide collaborative biorepository of DNA, plasma and serum from people with and without type 2 diabetes in India's two major ethnic groups (Indo-European and Dravidian speakers), collected from 2003 to 2011 with anthropometric and clinical measurements by the Indian Diabetes Consortium to study the genetic, epigenetic and environmental causes of type 2 diabetes in Indians undergoing socioeconomic transition, re-sampling the same areas at intervals to follow the effects of urbanisation."; "PMID:23205164"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2087; "INDICO Dravidian component sampled from CURES in the biorepository profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1007%2Fs11568-011-9157-2/MediaObjects/11568_2011_9157_MOESM1_ESM.doc"; rdfs:comment "Of the total CURES participants, 2,087 individuals diagnosed with T2D and 1,927 non-diabetic control subjects were included as a part of this consortium." . _:3bdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1927; "INDICO Dravidian component sampled from CURES in the biorepository profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1007%2Fs11568-011-9157-2/MediaObjects/11568_2011_9157_MOESM1_ESM.doc"; rdfs:comment "Of the total CURES participants, 2,087 individuals diagnosed with T2D and 1,927 non-diabetic control subjects were included as a part of this consortium." . _:3be02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INDICO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16935, _:genid-371333f489424440b12a13b9d98ced822608-genid16937, _:genid-371333f489424440b12a13b9d98ced822608-genid16939, _:genid-371333f489424440b12a13b9d98ced822608-genid16941, _:genid-371333f489424440b12a13b9d98ced822608-genid16943, _:genid-371333f489424440b12a13b9d98ced822608-genid16945, _:genid-371333f489424440b12a13b9d98ced822608-genid16947; , , ; ; "PMID:29273806"; "A Danish and Dutch occupational research group whose pooled surveys of occupational asthma, drawn from population-based or prospective cohort studies of workers exposed to allergens and irritants (agricultural dust or animals in the Danish SUS study, the Dutch Omega study and the Veterinarian’s Health Study; wheat flour and amylase in the Dutch Bakers health surveillance project; wood dust in the Danish Wood Dust Cohort of furniture workers; isocyanates in Dutch industrial spray painters), provided prevalent asthma cases and industry-, sex- and age-matched controls, as the INDUSTRIAL subgroup of the GABRIEL Consortium, to the genome-wide meta-analysis of asthma of the Trans-National Asthma Genetic Consortium."; 1227; "INDUSTRIAL"; rdfs:label "Industrial Cohorts Research Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16937 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16939 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16941 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16943 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16945 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16947 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3be12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16935; "animal allergens", "fungal alpha amylase"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The populations come from industries with exposure to known major allergens and irritants; high molecular weight sensitizers (wheat flour, fungal alpha amylase, animal allergens), low molecular weight sensitizers (isocyanate monomers and oligomers) and irritants and inflammatory agents (isocyanates, organic dust, endotoxins, wood)." . _:3be22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16937; "organic dust"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The populations come from industries with exposure to known major allergens and irritants; high molecular weight sensitizers (wheat flour, fungal alpha amylase, animal allergens), low molecular weight sensitizers (isocyanate monomers and oligomers) and irritants and inflammatory agents (isocyanates, organic dust, endotoxins, wood)." . _:3be32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16939; "wheat flour"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The populations come from industries with exposure to known major allergens and irritants; high molecular weight sensitizers (wheat flour, fungal alpha amylase, animal allergens), low molecular weight sensitizers (isocyanate monomers and oligomers) and irritants and inflammatory agents (isocyanates, organic dust, endotoxins, wood)." . _:3be42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16941; "wood"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The populations come from industries with exposure to known major allergens and irritants; high molecular weight sensitizers (wheat flour, fungal alpha amylase, animal allergens), low molecular weight sensitizers (isocyanate monomers and oligomers) and irritants and inflammatory agents (isocyanates, organic dust, endotoxins, wood)." . _:3be52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16943; "endotoxins"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The populations come from industries with exposure to known major allergens and irritants; high molecular weight sensitizers (wheat flour, fungal alpha amylase, animal allergens), low molecular weight sensitizers (isocyanate monomers and oligomers) and irritants and inflammatory agents (isocyanates, organic dust, endotoxins, wood)." . _:3be62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16945; "isocyanates"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The populations come from industries with exposure to known major allergens and irritants; high molecular weight sensitizers (wheat flour, fungal alpha amylase, animal allergens), low molecular weight sensitizers (isocyanate monomers and oligomers) and irritants and inflammatory agents (isocyanates, organic dust, endotoxins, wood)." . _:3be72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16947; "occupational asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "INDUSTRIAL (the Industrial Cohorts Research Group): The study base consists of several pooled surveys on occupational asthma from Denmark and The Netherlands." . _:3be82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "INDUSTRIAL (the Industrial Cohorts Research Group): The study base consists of several pooled surveys on occupational asthma from Denmark and The Netherlands." . _:3be92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "INDUSTRIAL (the Industrial Cohorts Research Group): The study base consists of several pooled surveys on occupational asthma from Denmark and The Netherlands." . _:3bea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish and Dutch occupational research group whose pooled surveys of occupational asthma, drawn from population-based or prospective cohort studies of workers exposed to allergens and irritants (agricultural dust or animals in the Danish SUS study, the Dutch Omega study and the Veterinarian’s Health Study; wheat flour and amylase in the Dutch Bakers health surveillance project; wood dust in the Danish Wood Dust Cohort of furniture workers; isocyanates in Dutch industrial spray painters), provided prevalent asthma cases and industry-, sex- and age-matched controls, as the INDUSTRIAL subgroup of the GABRIEL Consortium, to the genome-wide meta-analysis of asthma of the Trans-National Asthma Genetic Consortium."; "PMID:29273806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3beb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1227; "workers (asthma cases and matched controls) retained after QC in the GWAS analyses of the GABRIEL and TAGC meta-analyses"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "After QC a total of 1,227 subjects were retained in the GWAS analyses." . _:3bec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INDUSTRIAL"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. INGI-Cilento is the Cilento isolates study of the Italian Network on Genetic Isolates (PMID:22479191, PMID:25811787). Replaced by COHO:0000039 (Cilento study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Italian Network on Genetic Isolates-Cliento"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16954; , , , ; , , , , , , , ; "PGS012586", "PMID:27749845"; "An international consortium of research groups leading epidemiological studies of head and neck cancer, mostly case–control studies in North and South America, Europe and Asia, which pools their individual-level data in a common database to share comparable data, study rare subgroups such as never smokers and coordinate laboratory analyses of the causes of head and neck cancer, including genome-wide association studies of cancers of the upper aerodigestive tract."; 25865; 37248; 63113; "INHANCE", "INHANCE Consortium"; ; rdfs:label "International Head and Neck Cancer Epidemiology Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16954 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16954; "head and neck cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16023150+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Consortia have been initiated for head and neck cancer (International Head and Neck Cancer Epidemiology Consortium (INHANCE)) and lung cancer (International Lung Cancer Consortium (ILCCO)) with the aim to share comparable data, to focus on rare subgroups such as nonsmokers and to coordinate laboratory analyses." . _:3bee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3060072/"; rdfs:comment "University of North Carolina (CHANCE study) North Carolina - US University of North Carolina University of North Carolina Olshan HN Population-based 940 1,087" . _:3bef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3060072/"; rdfs:comment "ARCAGE b Europe - Multicentre IARC CNG Boffetta/Brennan UADT Hospital-based 1,422 1,503 1,368 1,313" . _:3bf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3060072/"; rdfs:comment "Central Europe c Europe - Multicentre IARC CNG Boffetta/Brennan UADT Hospital-based 808 2,587 723 2,200" . _:3bf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3060072/"; rdfs:comment "IARC - oral cancer (ORC) Europe - Multicentre IARC IARC Franceschi Oral Hospital-based 611 643" . _:3bf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340975/fullTextXML"; rdfs:comment "These studies were conducted in the USA (6), Italy (5), Germany (2), Brazil (1), France (1), Central Europe (1)." . _:3bf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS012586"; "Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks."; "PMID:38486201" . _:3bf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27749845"; "Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer."; "PMID:27749845", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5131845/fullTextXML"; rdfs:comment "The study population comprised 6,034 cases and 6,585 controls derived from 12 epidemiological studies, the majority of case-control design and part of the International Head and Neck Cancer Epidemiology Consortium (INHANCE)." . _:3bf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of research groups leading epidemiological studies of head and neck cancer, mostly case–control studies in North and South America, Europe and Asia, which pools their individual-level data in a common database to share comparable data, study rare subgroups such as never smokers and coordinate laboratory analyses of the causes of head and neck cancer, including genome-wide association studies of cancers of the upper aerodigestive tract."; "PMID:16023150", "PMID:27749845", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340975/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5834132/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3bf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 25865; "INHANCE database cases, controls and total reported in 2026"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340975/fullTextXML"; rdfs:comment "The INHANCE database included 63,113 participants, comprising 25,865 HNSCC cases and 37,248 controls." . _:3bf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 37248; "INHANCE database cases, controls and total reported in 2026"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340975/fullTextXML"; rdfs:comment "The INHANCE database included 63,113 participants, comprising 25,865 HNSCC cases and 37,248 controls." . _:3bf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 63113; "INHANCE database cases, controls and total reported in 2026"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13340975/fullTextXML"; rdfs:comment "The INHANCE database included 63,113 participants, comprising 25,865 HNSCC cases and 37,248 controls." . _:3bf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INHANCE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16968, _:genid-371333f489424440b12a13b9d98ced822608-genid16970; , ; , ; "PGS000004", "PMID:16417652"; "A research programme based at the Centre Hospitalier Universitaire de Québec and Laval University, Canada, that has recruited high-risk French-Canadian families with breast and/or ovarian cancer (several affected close relatives, or a known BRCA1 or BRCA2 mutation) through a network of referring clinicians across Quebec since 1996, for BRCA1 and BRCA2 mutation testing and studies of inherited susceptibility to breast and ovarian cancer."; 97; 97; "INHERIT", "INHERIT BRCAs", "INHERIT BRCAs research program", "INterdisciplinary HEalth Research International Team on BReast CAncer susceptibility", "Interdisciplinary Health Research Internal Team Breast Cancer Susceptiblity", "Interdisciplinary Health Research International Team Breast Cancer Susceptibility"; ; rdfs:label "Interdisciplinary Health Research International Team on Breast Cancer Susceptibility"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16968 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid16970 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3bfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16968; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1413985/fullTextXML"; rdfs:comment "High-risk French-Canadian breast and/or ovarian families were recruited into a research project started in 1996, which subsequently evolved into a large ongoing interdisciplinary research program designated INHERIT BRCAs [31,32]." . _:3bfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16970; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1413985/fullTextXML"; rdfs:comment "High-risk French-Canadian breast and/or ovarian families were recruited into a research project started in 1996, which subsequently evolved into a large ongoing interdisciplinary research program designated INHERIT BRCAs [31,32]." . _:3bfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1413985/fullTextXML"; rdfs:comment "This integrated clinical research program was composed of a network of referring clinicians across the province of Quebec." . _:3bfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:3bfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16417652"; "BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families."; "PMID:16417652", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1413985/fullTextXML"; rdfs:comment "High-risk French-Canadian breast and/or ovarian families were recruited into a research project started in 1996, which subsequently evolved into a large ongoing interdisciplinary research program designated INHERIT BRCAs [31,32]." . _:3bff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research programme based at the Centre Hospitalier Universitaire de Québec and Laval University, Canada, that has recruited high-risk French-Canadian families with breast and/or ovarian cancer (several affected close relatives, or a known BRCA1 or BRCA2 mutation) through a network of referring clinicians across Quebec since 1996, for BRCA1 and BRCA2 mutation testing and studies of inherited susceptibility to breast and ovarian cancer."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1413985/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2702391/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 97; "Affected non-BRCA1/2 French-Canadian INHERIT participants in the 2009 NBN analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2702391/fullTextXML"; rdfs:comment "Direct sequencing of NBN entire coding region, adjacent intronic sequences as well as the proximal promoter region was performed on 97 affected individuals from French Canadian breast and ovarian cancer families (one individual per family)." . _:3c012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 97; "Affected non-BRCA1/2 French-Canadian INHERIT participants in the 2009 NBN analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2702391/fullTextXML"; rdfs:comment "All 97 non-BRCA1/2 individuals from high-risk French Canadian breast and ovarian cancer families participating in this study were part of a larger interdisciplinary program termed INHERIT BRCAs [21]." . _:3c022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INHERIT"; . _:3c032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INHERIT BRCAs"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16980; , , , , ; "PGS002277", "PMID:35247066"; "A research partnership funded by the UK National Institute for Health Research between the University of Dundee, Scotland, and Dr Mohan's Diabetes Specialities Centre and Madras Diabetes Research Foundation, Chennai, India, that brings together diabetes data resources from India and Scotland, chiefly a cohort of Asian Indians with type 2 diabetes from the electronic medical records of Dr Mohan's Diabetes Specialities Centre (DMDSC) and the East Scotland Diabetes Cohort (ESDC) of white Europeans with type 2 diabetes from Tayside and Fife, for precision-medicine studies comparing type 2 diabetes in Asian Indians and white Europeans."; "INSPIRED", "INSPIRED project", "INSPIRED study", "INdia-Scotland Partnership for pRecision mEdicine in Diabetes"; ; rdfs:label "India–Scotland Partnership for Precision Medicine in Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16980 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16980; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9076730/fullTextXML"; rdfs:comment "The main inclusion criterion for the study for all cohorts was diagnosis of type 2 diabetes using the WHO criteria [24]." . _:3c052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9076730/fullTextXML"; rdfs:comment "The India–Scotland Partnership for Precision Medicine in Diabetes (INSPIRED) brings together data resources for the study of diabetes in India and Scotland (UK)." . _:3c062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002277"; "Young-onset diabetes in Asian Indians is associated with lower measured and genetically determined beta cell function."; "PMID:35247066" . _:3c072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35247066"; "Young-onset diabetes in Asian Indians is associated with lower measured and genetically determined beta cell function."; "PMID:35247066", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9076730/fullTextXML"; rdfs:comment "The India–Scotland Partnership for Precision Medicine in Diabetes (INSPIRED) brings together data resources for the study of diabetes in India and Scotland (UK)." . _:3c082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research partnership funded by the UK National Institute for Health Research between the University of Dundee, Scotland, and Dr Mohan's Diabetes Specialities Centre and Madras Diabetes Research Foundation, Chennai, India, that brings together diabetes data resources from India and Scotland, chiefly a cohort of Asian Indians with type 2 diabetes from the electronic medical records of Dr Mohan's Diabetes Specialities Centre (DMDSC) and the East Scotland Diabetes Cohort (ESDC) of white Europeans with type 2 diabetes from Tayside and Fife, for precision-medicine studies comparing type 2 diabetes in Asian Indians and white Europeans."; "PMID:35247066", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7437708/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INSPIRED"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16987; , , , , ; "PGS002259", "PMID:35195259"; "A population-based survey of cardiovascular disease and its risk factors (hypertension, hypercholesterolaemia, diabetes, obesity, smoking and physical inactivity) in nationally representative samples of adults aged 35–74 in China and Thailand, selected in 2000–2001 by multistage stratified cluster sampling; its Chinese participants, from ten provinces, were followed up in 2007–2008, 2012–2015 and 2018–2020 as one of the three sub-cohorts of the China-PAR project on incident atherosclerotic cardiovascular disease."; 15838; "InterASIA"; ; rdfs:label "International Collaborative Study of Cardiovascular Disease in Asia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16987 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16987; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15132212+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The overall objective of the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA) was to estimate the prevalence and distribution of cardiovascular disease risk factors, including hypertension, hypercholesterolemia, diabetes, obesity, cigarette smoking, and physical inactivity, in the general population of both China and Thailand." . _:3c0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15132212+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multistage cluster sampling method was used to select a nationally representative sample of 15,838 adults, aged 35-74 years, in China, and 5,350 similarly aged adults in Thailand." . _:3c0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002259"; "Integrating polygenic and clinical risks to improve stroke risk stratification in prospective Chinese cohorts."; "PMID:36881318" . _:3c0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35195259"; "A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study."; "PMID:35195259", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9076396/fullTextXML"; rdfs:comment "The validation cohorts were derived from three cohorts in the China-PAR project, including the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA), the China Multi-Center Collaborative Study of Cardiovascular Epidemiology (ChinaMUCA-1998), and Community Intervention of Metabolic Syndrome in China and Chinese Family Health Study (CIMIC)." . _:3c0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based survey of cardiovascular disease and its risk factors (hypertension, hypercholesterolaemia, diabetes, obesity, smoking and physical inactivity) in nationally representative samples of adults aged 35–74 in China and Thailand, selected in 2000–2001 by multistage stratified cluster sampling; its Chinese participants, from ten provinces, were followed up in 2007–2008, 2012–2015 and 2018–2020 as one of the three sub-cohorts of the China-PAR project on incident atherosclerotic cardiovascular disease."; "PMID:14555879", "PMID:15132212", "PMID:22751097", "PMID:35195259", "PMID:36988954"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15838; "InterASIA Chinese nationally representative survey participants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15132212+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multistage cluster sampling method was used to select a nationally representative sample of 15,838 adults, aged 35-74 years, in China, and 5,350 similarly aged adults in Thailand." . _:3c102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "InterASIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid16995; , ; "PMID:38809556"; "A population-based prospective cohort of the INTERGENE research programme, set up to study the interplay between genetic and environmental risk factors for chronic disease, in which a random sample of adults aged 24 to 77 drawn from the population registers of an urban-rural area of western Sweden (Västra Götaland County, about half of them living in Gothenburg) was examined in 2001-2004 and re-examined in 2014-2016, with follow-up of health outcomes through linkage to the Swedish national registers."; 3614; "INTERGENE", "INTERGENE cohort", "INTERGENE study", "INTERplay between GENEtic susceptibility and external factors"; rdfs:label "Interplay Between Genetic Susceptibility and External Factors"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid16995 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid16995; "environmental risk factors for chronic disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11231701/fullTextXML"; rdfs:comment "The INTERGENE research programme was initiated to study the INTERplay between GENEtic and environmental risk factors for chronic disease." . _:3c122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11231701/fullTextXML"; rdfs:comment "A population-based cohort of 3614 adult individuals, aged 25 to 77, living in Västra Götaland County, Sweden, was examined in 2001–2004." . _:3c132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38809556"; "Domain-Specific Physical Activity and Stroke in Sweden."; "PMID:38809556", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38809556+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The prospective, population-based Interplay Between Genetic Susceptibility and External Factors (INTERGENE) cohort study was conducted among a random sample of individuals from an urban-rural area covering western Sweden; 3614 individuals aged 24 to 77 years were examined in 2001 to 2004, and 1394 individuals were reexamined in 2014 to 2016." . _:3c142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of the INTERGENE research programme, set up to study the interplay between genetic and environmental risk factors for chronic disease, in which a random sample of adults aged 24 to 77 drawn from the population registers of an urban-rural area of western Sweden (Västra Götaland County, about half of them living in Gothenburg) was examined in 2001-2004 and re-examined in 2014-2016, with follow-up of health outcomes through linkage to the Swedish national registers."; "PMID:38809556", "PMID:38983451", "PMID:41741164"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3614; "adults aged 24-77, from a random population-register sample of western Sweden, examined at baseline in 2001-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12959171/fullTextXML"; rdfs:comment "A random sample of 8626 adults aged 24–77 years was drawn from population registers, of whom 3614 (42%) accepted the invitation and underwent baseline clinical examination between 2001 and 2004." . _:3c162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTERGENE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17002, _:genid-371333f489424440b12a13b9d98ced822608-genid17004, _:genid-371333f489424440b12a13b9d98ced822608-genid17006, _:genid-371333f489424440b12a13b9d98ced822608-genid17008, _:genid-371333f489424440b12a13b9d98ced822608-genid17010; , , , , , , , , , , , , , , , , , ; ; "PGS000781", "PMID:28346443"; "A multinational case-control study of glioma, meningioma, acoustic neurinoma and parotid gland tumours in residents aged 30 to 59, carried out with a common core protocol by sixteen centres in thirteen countries (Australia, Canada, Denmark, Finland, France, Germany, Israel, Italy, Japan, New Zealand, Norway, Sweden and the United Kingdom) with cases diagnosed during 2000–2004, set up to investigate whether mobile phone use and the radiofrequency fields it emits increase the risk of these tumours, and also collecting information on other potential risk factors."; 6311; 7658; "INTERPHONE", "INTERPHONE international case-control study", "Interphone", "Interphone Study", "Interphone study"; ; rdfs:label "INTERPHONE study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17002 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17004 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17006 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17008 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17010 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17002; "acoustic neurinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17636416+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study focused on tumours arising in the tissues most exposed to RF fields from mobile phones: glioma, meningioma, acoustic neurinoma and parotid gland tumours." . _:3c182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17004; "meningioma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17636416+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study focused on tumours arising in the tissues most exposed to RF fields from mobile phones: glioma, meningioma, acoustic neurinoma and parotid gland tumours." . _:3c192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17006; "glioma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17636416+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study focused on tumours arising in the tissues most exposed to RF fields from mobile phones: glioma, meningioma, acoustic neurinoma and parotid gland tumours." . _:3c1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17008; "parotid gland tumours"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17636416+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study focused on tumours arising in the tissues most exposed to RF fields from mobile phones: glioma, meningioma, acoustic neurinoma and parotid gland tumours." . _:3c1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17010; "mobile phone use", "radio frequency (RF) fields emitted by mobile phones"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17636416+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A multinational case-control study, INTERPHONE, was set-up to investigate whether mobile phone use increases the risk of cancer and, more specifically, whether the RF fields emitted by mobile phones are carcinogenic." . _:3c1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9082802/fullTextXML"; rdfs:comment "The Interphone study recruited 6311 cases with intracerebral tumours and 7658 controls from 13 countries (Denmark, Finland, Norway, Sweden, Germany, United Kingdom, France, Italy, Israel, Japan, Canada, Australia and New Zealand)." . _:3c1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000781"; "A Weighted Genetic Risk Score of Adult Glioma Susceptibility Loci Associated with Pediatric Brain Tumor Risk."; "PMID:31792337" . _:3c1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346443"; "Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors."; "PMID:28346443", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5558246/unicode"; rdfs:comment "Briefly, the UK GWAS was based on 636 cases (401 males; mean age 46 years) who were ascertained through the INTERPHONE study." . _:3c1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational case-control study of glioma, meningioma, acoustic neurinoma and parotid gland tumours in residents aged 30 to 59, carried out with a common core protocol by sixteen centres in thirteen countries (Australia, Canada, Denmark, Finland, France, Germany, Israel, Italy, Japan, New Zealand, Norway, Sweden and the United Kingdom) with cases diagnosed during 2000–2004, set up to investigate whether mobile phone use and the radiofrequency fields it emits increase the risk of these tumours, and also collecting information on other potential risk factors."; "PMID:17636416", "PMID:34648614"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6311; "intracranial tumour cases and controls recruited (parotid cases not included)"; "PMID:34648614"; rdfs:comment "The Interphone study recruited 6311 cases with intracerebral tumours and 7658 controls from 13 countries (Denmark, Finland, Norway, Sweden, Germany, United Kingdom, France, Italy, Israel, Japan, Canada, Australia and New Zealand)." . _:3c212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7658; "intracranial tumour cases and controls recruited (parotid cases not included)"; "PMID:34648614"; rdfs:comment "The Interphone study recruited 6311 cases with intracerebral tumours and 7658 controls from 13 countries (Denmark, Finland, Norway, Sweden, Germany, United Kingdom, France, Italy, Israel, Japan, Canada, Australia and New Zealand)." . _:3c222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "INTERPHONE"; . _:3c232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Interphone"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17020, _:genid-371333f489424440b12a13b9d98ced822608-genid17022; , ; ; "PGS000030", "PMID:28448241"; "A study of hereditary breast and ovarian cancer at the Istituto Oncologico Veneto (IOV–IRCCS) in Padua, Italy, whose women and men carrying pathogenic BRCA1 or BRCA2 variants are contributed to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)."; "IOVHBOCS", "Instituto Oncologico Veneto Hereditary Breast and Ovarian Cancer Study"; ; rdfs:label "Istituto Oncologico Veneto Hereditary Breast and Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17020 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17022 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17020; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML"; rdfs:comment "IOVHBOCS (Istituto Oncologico Veneto Hereditary Breast and Ovarian Cancer Study) was supported by Ministero della Salute and “5x1000” Istituto Oncologico Veneto grant." . _:3c252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17022; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML"; rdfs:comment "IOVHBOCS (Istituto Oncologico Veneto Hereditary Breast and Ovarian Cancer Study) was supported by Ministero della Salute and “5x1000” Istituto Oncologico Veneto grant." . _:3c262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7890067/supplementaryFiles"; rdfs:comment "IOVHBOCS Istituto Oncologico Veneto Italy" . _:3c272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000030"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:3c282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28448241"; "Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores."; "PMID:28448241", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML"; rdfs:comment "IOVHBOCS (Istituto Oncologico Veneto Hereditary Breast and Ovarian Cancer Study) was supported by Ministero della Salute and “5x1000” Istituto Oncologico Veneto grant." . _:3c292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of hereditary breast and ovarian cancer at the Istituto Oncologico Veneto (IOV–IRCCS) in Padua, Italy, whose women and men carrying pathogenic BRCA1 or BRCA2 variants are contributed to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)."; "PMID:28448241", "PMID:32665703", "PMID:33597508"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IOVHBOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17029, _:genid-371333f489424440b12a13b9d98ced822608-genid17031, _:genid-371333f489424440b12a13b9d98ced822608-genid17033; , ; "PGS000791", "PMID:23897955"; "An observational epidemiology cohort of consecutive patients with newly diagnosed lymphoma (including Hodgkin lymphoma and chronic lymphocytic leukaemia), US residents aged 18 or over enrolled within 9 months of diagnosis at the Mayo Clinic in Rochester, Minnesota, and the University of Iowa in Iowa City from September 2002 to June 2015 as part of the University of Iowa/Mayo Clinic Lymphoma Specialized Program of Research Excellence (SPORE), set up to identify clinical, epidemiological, germline genetic, tumour and treatment factors that affect lymphoma outcomes and survivorship."; 6972; "Iowa-Mayo", "Iowa-Mayo SPORE", "Iowa-Mayo SPORE Molecular Epidemiology Resource", "Lymphoma SPORE Molecular Epidemiology Resource", "MER", "Molecular Epidemiology Resource", "University of Iowa-Mayo Clinic Lymphoma Specialized Program of Research Excellence", "University of Iowa/Mayo Clinic Specialized Program of Research Excellence Molecular Epidemiology Resource"; ; rdfs:label "Lymphoma Specialized Program of Research Excellence Molecular Epidemiology Resource Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17029 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17031 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17033 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17029; "chronic lymphocytic leukaemia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5837578/"; rdfs:comment "At both Mayo Clinic Rochester and the University of Iowa, all consecutive cases of lymphoma, including Hodgkin lymphoma (HL) and chronic lymphocytic leukaemia (CLL), who were within 9 months of their initial diagnosis at presentation, a US resident and age 18 years and older, were eligible for enrolment into the MER from 1 September 2002 to 30 June 2015." . _:3c2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17031; "Hodgkin lymphoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5837578/"; rdfs:comment "At both Mayo Clinic Rochester and the University of Iowa, all consecutive cases of lymphoma, including Hodgkin lymphoma (HL) and chronic lymphocytic leukaemia (CLL), who were within 9 months of their initial diagnosis at presentation, a US resident and age 18 years and older, were eligible for enrolment into the MER from 1 September 2002 to 30 June 2015." . _:3c2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17033; "lymphoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5837578/"; rdfs:comment "At both Mayo Clinic Rochester and the University of Iowa, all consecutive cases of lymphoma, including Hodgkin lymphoma (HL) and chronic lymphocytic leukaemia (CLL), who were within 9 months of their initial diagnosis at presentation, a US resident and age 18 years and older, were eligible for enrolment into the MER from 1 September 2002 to 30 June 2015." . _:3c2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5837578/"; rdfs:comment "At both Mayo Clinic Rochester and the University of Iowa, all consecutive cases of lymphoma, including Hodgkin lymphoma (HL) and chronic lymphocytic leukaemia (CLL), who were within 9 months of their initial diagnosis at presentation, a US resident and age 18 years and older, were eligible for enrolment into the MER from 1 September 2002 to 30 June 2015." . _:3c2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000791"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:3c302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23897955"; "Rates and outcomes of follicular lymphoma transformation in the immunochemotherapy era: a report from the University of Iowa/MayoClinic Specialized Program of Research Excellence Molecular Epidemiology Resource."; "PMID:23897955", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23897955+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients with newly diagnosed FL were prospectively enrolled onto the University of Iowa/Mayo Clinic Specialized Program of Research Excellence Molecular Epidemiology Resource from 2002 to 2009." . _:3c312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational epidemiology cohort of consecutive patients with newly diagnosed lymphoma (including Hodgkin lymphoma and chronic lymphocytic leukaemia), US residents aged 18 or over enrolled within 9 months of diagnosis at the Mayo Clinic in Rochester, Minnesota, and the University of Iowa in Iowa City from September 2002 to June 2015 as part of the University of Iowa/Mayo Clinic Lymphoma Specialized Program of Research Excellence (SPORE), set up to identify clinical, epidemiological, germline genetic, tumour and treatment factors that affect lymphoma outcomes and survivorship."; "PMID:29025017"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6972; "newly diagnosed lymphoma patients enrolled 2002-2015"; "https://europepmc.org/api/getPdf?pmcid=PMC5837578"; rdfs:comment "Cumulative enrolment was 6972 participants (5256 at Mayo and 1716 at Iowa)." . _:3c332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iowa-Mayo"; . _:3c342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17042; , ; ; "PGS000751", "PMID:29117387"; "A case–control study of prostate cancer in African American men in Maryland, United States, with cases from the Johns Hopkins Hospital and Sidney Kimmel Cancer Center and controls from men undergoing prostate cancer screening at the same institutions, one of the studies of the African Ancestry Prostate Cancer (AAPC) GWAS consortium's genome-wide association studies of prostate cancer in men of African ancestry."; 368; 172; "IPCG"; ; rdfs:label "Identifying Prostate Cancer Genes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17042 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17042; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Identifying Prostate Cancer Genes | IPCG | AAPC GWAS | 368 | 172 | 354 | 157 | Case-control, Maryland, U.S. | Johns Hopkins Hospital and Sidney Kimmel Cancer Center | Men undergoing screening for prostate cancer at the same institutions | [PMID:17401366]" . _:3c362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Identifying Prostate Cancer Genes | IPCG | AAPC GWAS | 368 | 172 | 354 | 157 | Case-control, Maryland, U.S. | Johns Hopkins Hospital and Sidney Kimmel Cancer Center | Men undergoing screening for prostate cancer at the same institutions | [PMID:17401366]" . _:3c372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:3c382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29117387"; "Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry."; "PMID:29117387", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Identifying Prostate Cancer Genes | IPCG | AAPC GWAS | 368 | 172 | 354 | 157 | Case-control, Maryland, U.S. | Johns Hopkins Hospital and Sidney Kimmel Cancer Center | Men undergoing screening for prostate cancer at the same institutions | [PMID:17401366]" . _:3c392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of prostate cancer in African American men in Maryland, United States, with cases from the Johns Hopkins Hospital and Sidney Kimmel Cancer Center and controls from men undergoing prostate cancer screening at the same institutions, one of the studies of the African Ancestry Prostate Cancer (AAPC) GWAS consortium's genome-wide association studies of prostate cancer in men of African ancestry."; "PMID:21602798", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 368; "IPCG African American contribution before quality control in the 2017 table"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Identifying Prostate Cancer Genes | IPCG | AAPC GWAS | 368 | 172 | 354 | 157 | Case-control, Maryland, U.S. | Johns Hopkins Hospital and Sidney Kimmel Cancer Center | Men undergoing screening for prostate cancer at the same institutions | [PMID:17401366]" . _:3c3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 172; "IPCG African American contribution before quality control in the 2017 table"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Identifying Prostate Cancer Genes | IPCG | AAPC GWAS | 368 | 172 | 354 | 157 | Case-control, Maryland, U.S. | Johns Hopkins Hospital and Sidney Kimmel Cancer Center | Men undergoing screening for prostate cancer at the same institutions | [PMID:17401366]" . _:3c3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPCG"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. IPM is the Charles Bronfman Institute for Personalized Medicine at Mount Sinai, and the PGS id denotes its BioMe Biobank (the catalog's long name is the IPM BioBank GWAS), which COHO already has as COHO:0000424 BioMe Biobank (it already carries the synonyms 'IPM Biobank' and 'Institute for Personalized Medicine (IPM) BioMe Biobank Project'). Add the PGS id IPM as an acronym and the catalog's full name as a synonym; no other COHO term uses the acronym IPM. The placeholder COHO:0001931 is a duplicate. The CARDIoGRAMplusC4D sub-sample tags IPM-EurAmer, IPM-AfrAmer, IPM-HispAmer (and IPM_EA, IPM_AA, IPM_HA) are ancestry subsets of the same biobank; they could be added as synonyms if the curator wants every tag, but neither catalog uses them as ids. Replaced by COHO:0000424 (BioMe Biobank), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Charles R Bronfman Institute for Personalized Medicine - IPM / BioBank Genome Wide Association Study of Cardiovascular, Renal and Metabolic Phenotypes"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17051; , ; ; "PGS000004", "PMID:28448241"; "A study at the Portuguese Oncology Institute of Porto (IPO-Porto), Portugal, of carriers of pathogenic BRCA1 or BRCA2 variants, supported by the Liga Portuguesa Contra o Cancro, which contributes its participants and their genotypes to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "IPOBCS", "Portuguese Oncology Institute–Porto Breast Cancer Study"; ; rdfs:label "Portuguese Oncology Institute-Porto Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17051 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17051; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML"; rdfs:comment "IPOBCS (Portuguese Oncology Institute-Porto Breast Cancer Study) was supported by Liga Portuguesa Contra o Cancro." . _:3c3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM3_ESM.xlsx"; rdfs:comment "IPOBCS Portuguese Oncology Institute-Porto Breast Cancer Study PORTUGAL" . _:3c3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:3c402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28448241"; "Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores."; "PMID:28448241", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5501359/fullTextXML"; rdfs:comment "IPOBCS (Portuguese Oncology Institute-Porto Breast Cancer Study) was supported by Liga Portuguesa Contra o Cancro." . _:3c412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study at the Portuguese Oncology Institute of Porto (IPO-Porto), Portugal, of carriers of pathogenic BRCA1 or BRCA2 variants, supported by the Liga Portuguesa Contra o Cancro, which contributes its participants and their genotypes to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "PMID:28448241", "PMID:32424353", "PMID:32665703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPOBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17058; , ; ; "PGS000741", "PMID:33623038"; "A hospital-based case–control study of prostate cancer at the Portuguese Oncology Institute of Porto (IPO-Porto), Portugal, whose cases are men with early-onset and/or familial prostate cancer and whose controls are blood donors, contributing to the PRACTICAL consortium's genome-wide association and polygenic risk studies of prostate cancer."; 462; 132; "IPO-Porto", "IPO-Porto Prostate Cancer study"; ; rdfs:label "IPO-Porto study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17058 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17058; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4503425/"; rdfs:comment "This study comprised a total of 462 index cases (HPC samples) from families with early-onset and/or familial/hereditary PrCa, which were selected based on one of the following criteria: 1) PrCa diagnosis before the age of 56 or 2) PrCa diagnosis at any age with family history of the disease (up to fourth degree relatives) and at least one family member (the proband or a relative) with PrCa before the age of 66." . _:3c442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4596899/"; rdfs:comment "IPO-Porto Portugal 66 183 59.3 8.3 82.8 20.0 15.8 64.5 0.0" . _:3c452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:3c462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "The IPO-Porto study was funded by Fundação para a Ciência e a Tecnologia (FCT; UID/DTP/00776/2013 and PTDC/DTP-PIC/1308/2014) and FEDER (POCI-01-0145-FEDER-028245)." . _:3c472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of prostate cancer at the Portuguese Oncology Institute of Porto (IPO-Porto), Portugal, whose cases are men with early-onset and/or familial prostate cancer and whose controls are blood donors, contributing to the PRACTICAL consortium's genome-wide association and polygenic risk studies of prostate cancer."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 462; "IPO-Porto index cases and blood donor controls in the 2015 HOXB13 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4503425/"; rdfs:comment "This study comprised a total of 462 index cases (HPC samples) from families with early-onset and/or familial/hereditary PrCa, which were selected based on one of the following criteria: 1) PrCa diagnosis before the age of 56 or 2) PrCa diagnosis at any age with family history of the disease (up to fourth degree relatives) and at least one family member (the proband or a relative) with PrCa before the age of 66." . _:3c492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 132; "IPO-Porto index cases and blood donor controls in the 2015 HOXB13 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4503425/"; rdfs:comment "As control subjects, we used 132 male blood donors (mean age 56.8 years; SD±5.1 years) from the Portuguese Oncology Institute of Porto with no personal history of cancer at the time of blood collection." . _:3c4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPO-Porto"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Icelandic pacemaker sample is deCODE genetics' pacemaker population sample set (PMID:30271950, PMID:29050564): it is part of the deCODE genetics Icelandic cohort. The Catalog's name describes only that subset and is not carried over. Replaced by COHO:0000428 (deCODE genetics Icelandic cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Icelandic Pacemaker Population Sample"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:29113070"; "An ongoing prospective internet-based cohort (e-cohort) of students aged 18 or over who are enrolled at a university or other higher education institution in France and can read French, recruiting since February 2013 with the support of the universities of Bordeaux, Versailles and Nice, which collects online questionnaires on sociodemographic and academic characteristics, health status, personal and family medical history, lifestyle and mental health to study the health of university students over ten years."; 14795; "Internet-based Students HeAlth Research Enterprise", "Internet-based Students' Health Research Enterprise", "i-Share", "i-Share cohort", "i-Share project", "i-Share study", "internet-based Students Health Research Enterprise"; rdfs:label "Internet-based Students Health Research Enterprise"@en . _:3c4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6561426/fullTextXML"; rdfs:comment "This study is based on the internet-based Students Health Research Enterprise (i-Share, www.i-share.fr) project, a prospective population-based cohort study of students in higher education institutions in France." . _:3c4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29113070"; "Electronic Cigarette Use in Students and Its Relation with Tobacco-Smoking: A Cross-Sectional Analysis of the i-Share Study."; "PMID:29113070", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29113070+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 2016, data were collected from 2720 French-speaking students participating in a web-based study on students' health: the internet-based Students Health Research Enterprise (i-Share) project." . _:3c4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective internet-based cohort (e-cohort) of students aged 18 or over who are enrolled at a university or other higher education institution in France and can read French, recruiting since February 2013 with the support of the universities of Bordeaux, Versailles and Nice, which collects online questionnaires on sociodemographic and academic characteristics, health status, personal and family medical history, lifestyle and mental health to study the health of university students over ten years."; "PMID:29113070", "PMID:31167858"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14795; "students included in the cohort from February 2013 to 6 February 2016 (recruitment ongoing)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6561426/fullTextXML"; rdfs:comment "As of 6 February 2016, 14 795 participants were included in the cohort, with the average age being 21 years and 74% were female." . _:3c4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "i-Share"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17072, _:genid-371333f489424440b12a13b9d98ced822608-genid17074; , ; "PMID:16839190"; "The programme of the International Studies of Infarct Survival (ISIS) collaborative group, which ran large randomised trials of treatments for suspected acute myocardial infarction (ISIS-1 to ISIS-4) through collaborating hospitals, and its case-control study in more than 100 UK hospitals, in which blood was taken from ISIS-3 patients on admission and, in the early 1990s, surviving patients of the ISIS-3 and ISIS-4 trials aged 30-79, their siblings and children, and those relatives' spouses, who served as controls, completed postal questionnaires on smoking and other habits and were asked for blood, for studies of smoking, blood markers and genetic variants in relation to the risk of non-fatal myocardial infarction."; 13926; 32389; "ISIS", "ISIS case-control study", "International Study of Infarct Survival"; rdfs:label "International Studies of Infarct Survival"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17072 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17074 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17072; "myocardial infarction"; "https://www.bmj.com/content/311/7003/471"; rdfs:comment "In the early 1990s responses to a postal questionnaire were obtained from 13926 survivors of myocardial infarction (cases) recently discharged from hospitals in the United Kingdom and 32389 of their relatives (controls)." . _:3c512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17074; "cigarette smoking", "tar yields of manufactured cigarettes"; "https://www.bmj.com/content/311/7003/471"; rdfs:comment "To assess the effects of cigarette smoking on the incidence of non-fatal myocardial infarction, and to compare tar in different types of manufactured cigarettes." . _:3c522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1487176/fullTextXML"; rdfs:comment "The chief acknowledgement for the ISIS study is to the patients and their relatives who collaborated, to their general practitioners, and to the medical and nursing staff from more than 100 hospitals in the UK." . _:3c532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16839190"; "Lymphotoxin-alpha gene and risk of myocardial infarction in 6,928 cases and 2,712 controls in the ISIS case-control study."; "PMID:16839190", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1487176/fullTextXML"; rdfs:comment "We examined the association of seven single nucleotide polymorphisms (SNPs) across the LTA gene, and their related haplotypes, with risk of myocardial infarction (MI) in the International Study of Infarct Survival (ISIS) case-control study involving 6,928 non-fatal MI cases and 2,712 unrelated controls." . _:3c542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The programme of the International Studies of Infarct Survival (ISIS) collaborative group, which ran large randomised trials of treatments for suspected acute myocardial infarction (ISIS-1 to ISIS-4) through collaborating hospitals, and its case-control study in more than 100 UK hospitals, in which blood was taken from ISIS-3 patients on admission and, in the early 1990s, surviving patients of the ISIS-3 and ISIS-4 trials aged 30-79, their siblings and children, and those relatives' spouses, who served as controls, completed postal questionnaires on smoking and other habits and were asked for blood, for studies of smoking, blood markers and genetic variants in relation to the risk of non-fatal myocardial infarction."; "PMID:16839190", "PMID:1746418", "PMID:19567438", "PMID:7647641"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13926; "UK survivors of myocardial infarction from the ISIS-3 and ISIS-4 trials (cases) and their relatives (controls) who returned the case-control study's postal questionnaires in the early 1990s"; "https://www.bmj.com/content/311/7003/471"; rdfs:comment "In the early 1990s responses to a postal questionnaire were obtained from 13926 survivors of myocardial infarction (cases) recently discharged from hospitals in the United Kingdom and 32389 of their relatives (controls)." . _:3c562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32389; "UK survivors of myocardial infarction from the ISIS-3 and ISIS-4 trials (cases) and their relatives (controls) who returned the case-control study's postal questionnaires in the early 1990s"; "https://www.bmj.com/content/311/7003/471"; rdfs:comment "In the early 1990s responses to a postal questionnaire were obtained from 13926 survivors of myocardial infarction (cases) recently discharged from hospitals in the United Kingdom and 32389 of their relatives (controls)." . _:3c572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17082; , ; "PGS004611", "PMID:37188791"; "An ongoing adaptive phase II platform clinical trial, run collaboratively by academic investigators, the US National Cancer Institute, the US Food and Drug Administration and industry under the Foundation for the NIH Biomarkers Consortium, conducted at multiple clinical sites in the United States with participants continuously enrolled since 2010, testing novel neoadjuvant therapeutic agents and biomarkers in women with locally advanced, high-risk breast cancer."; 1123; "I-SPY 2", "I-SPY 2 TRIAL", "I-SPY2", "Investigation of Serial Studies to Predict Your Therapeutic Response With Imaging and Molecular Analysis 2", "Investigation of Serial Studies to Predict Your Therapeutic Response with Imaging And moLecular analysis 2", "Investigation of Serial studies to Predict Your Therapeutic Response with Imaging And molecular anaLysis 2"; ; rdfs:label "Investigation of Serial Studies to Predict Your Therapeutic Response with Imaging And molecular analysis 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17082 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17082; "locally advanced breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19440188+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The framework is an adaptive phase II clinical trial design in the neoadjuvant setting for women with locally advanced breast cancer." . _:3c592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42530945+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The I-SPY2 (Investigation of Serial Studies to Predict Your Therapeutic Response With Imaging and Molecular Analysis 2) is an ongoing randomized clinical platform trial being conducted at multiple US clinical sites including patients with early-stage (II or III) ERBB2-negative, high-risk breast cancer." . _:3c5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004611"; "Development and testing of a polygenic risk score for breast cancer aggressiveness."; "PMID:37188791" . _:3c5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37188791"; "Development and testing of a polygenic risk score for breast cancer aggressiveness."; "PMID:37188791", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10185660/fullTextXML"; rdfs:comment "We developed the ROR-P PRS using 2363 breast cancers from three studies: The Cancer Genome Atlas (TCGA)21, Molecular Taxonomy of Breast Cancer International Consortium (METABRIC)22, and Investigation of Serial Studies to Predict Your Therapeutic Response with Imaging And molecular analysis 2 (I-SPY 2 TRIAL)23 (Fig. 1, Supplementary Table 1, Supplementary Fig. 1)." . _:3c5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing adaptive phase II platform clinical trial, run collaboratively by academic investigators, the US National Cancer Institute, the US Food and Drug Administration and industry under the Foundation for the NIH Biomarkers Consortium, conducted at multiple clinical sites in the United States with participants continuously enrolled since 2010, testing novel neoadjuvant therapeutic agents and biomarkers in women with locally advanced, high-risk breast cancer."; "PMID:19440188", "PMID:42530945"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:3c5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1123; "patients randomized from March 2010 to November 2016 (the first 10 therapies, including control)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7378873/"; rdfs:comment "From March 3, 2010, to November 5, 2016, a total of 1896 patients were screened for eligibility for the trial, and 1123 were randomized; 773 patients did not proceed to randomization for various reasons (Figure 1)." . _:3c5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "I-SPY 2"; . _:3c5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "I-SPY 2 TRIAL"; . _:3c602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "I-SPY2"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. deCODE genetics describes its sick sinus syndrome sample set among its Icelandic data ('The deCODE genetics SSS sample consisted of 3577 Icelanders diagnosed with SSS', PMID:33580673): the sample is part of the deCODE genetics Icelandic cohort. The Catalog's name describes only that disease subset and is not carried over. Replaced by COHO:0000428 (deCODE genetics Icelandic cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Icelandic Sick Sinus Syndrome sample"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:25798622"; "A cohort of non-diabetic adults of European ancestry pooled from studies of insulin resistance carried out at Stanford University over about ten years, whose insulin sensitivity was measured directly by the insulin suppression test (as steady-state plasma glucose) and who were genotyped genome-wide for genetic studies of insulin sensitivity and related traits."; 448; "IST", "Stanford IST", "Stanford IST Cohort", "Stanford IST cohort"; rdfs:label "Stanford Insulin Suppression Test Cohort"@en . _:3c612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4030103/fullTextXML"; rdfs:comment "Sample collection for the Stanford IST Cohort was carried out in part in the Clinical and Translational Research Unit, Stanford University" . _:3c622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25798622"; "Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene."; "PMID:25798622", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4409020/"; rdfs:comment "The four studies in the GWAS included the RISC consortium (n = 1,004), ULSAM (Uppsala Longitudinal Study of Adult Men; n = 899), the EUGENE2 consortium (n = 591), and the Stanford IST cohort (n = 270)." . _:3c632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of non-diabetic adults of European ancestry pooled from studies of insulin resistance carried out at Stanford University over about ten years, whose insulin sensitivity was measured directly by the insulin suppression test (as steady-state plasma glucose) and who were genotyped genome-wide for genetic studies of insulin sensitivity and related traits."; "PMID:23378610", "PMID:23583979", "PMID:24296717", "PMID:25798622"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 448; "genotyped cohort members (total sample size in the heart-rate GWAS study table; 327 analysed)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2610/MediaObjects/41588_2013_BFng2610_MOESM4_ESM.pdf"; rdfs:comment "Stanford IST cohort Stanford Study Population-based 448 >98.5% Eigenvector analysis; Duplicates identified by PLINK 327 Peripheral pulse rate" . _:3c652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17097, _:genid-371333f489424440b12a13b9d98ced822608-genid17099, _:genid-371333f489424440b12a13b9d98ced822608-genid17101; , ; "PGS000791", "PMID:33910586"; "A multicentre case-control study of lymphoma of any subtype carried out in 2011–2017 in six Italian centres (Perugia, Florence, Novara, Verona, Cagliari and Nuoro in Sardinia, and Bari and Taranto in Apulia), whose cases are incident lymphoma patients and whose controls, frequency-matched to cases by age and sex, are cancer-free hospital patients in most centres and a random sample of the general population in Cagliari and Nuoro, interviewed about lifetime occupational history and other exposures to study gene-environment interactions in lymphoma etiology."; 867; 774; 1641; "Gene-environment interactions in lymphoma etiology", "ItGxE", "Italian Gene-Environment Interactions in Lymphoma Etiology study", "Italian GxE", "Italian_GxE", "Multicenter Italian study on gene-environment interactions in lymphoma etiology: translational aspects"; ; rdfs:label "Italian Gene-Environment Interactions in Lymphoma Etiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17097 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17099 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17101 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17097; "lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "We used unconditional logistic regression models to assess risk of lymphoma (all subtypes), the NHL and BCL groups, HL, and the major BCL subtypes, including diffuse large B cell lymphoma (DLBCL), chronic lymphocytic leukaemia (CLL), follicular lymphoma (FL), and multiple myeloma (MM), associated with ever exposure (including all categories of confidence, intensity, frequency and duration of exposure), and with categories of confidence, duration, intensity, and frequency of exposure to glyphosate, as well as with cumulative exposure to glyphosate." . _:3c672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17099; "multiple myeloma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "We used unconditional logistic regression models to assess risk of lymphoma (all subtypes), the NHL and BCL groups, HL, and the major BCL subtypes, including diffuse large B cell lymphoma (DLBCL), chronic lymphocytic leukaemia (CLL), follicular lymphoma (FL), and multiple myeloma (MM), associated with ever exposure (including all categories of confidence, intensity, frequency and duration of exposure), and with categories of confidence, duration, intensity, and frequency of exposure to glyphosate, as well as with cumulative exposure to glyphosate." . _:3c682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17101; "occupational exposure to glyphosate"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "We inquired into the association between occupational exposure to glyphosate and risk of lymphoma subtypes in a multicenter case-control study conducted in Italy." . _:3c692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "The “Gene-environment interactions in lymphoma etiology” (ItGxE) multicentre case-control study took place in 2011–2017 in six Italian centres, namely Perugia, Florence, Novara, Verona, Cagliari and Nuoro in Sardinia, and Bari and Taranto in Apulia." . _:3c6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000791"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:3c6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33910586"; "Occupational exposure to glyphosate and risk of lymphoma:results of an Italian multicenter case-control study."; "PMID:33910586", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "The “Gene-environment interactions in lymphoma etiology” (ItGxE) multicentre case-control study took place in 2011–2017 in six Italian centres, namely Perugia, Florence, Novara, Verona, Cagliari and Nuoro in Sardinia, and Bari and Taranto in Apulia." . _:3c6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of lymphoma of any subtype carried out in 2011–2017 in six Italian centres (Perugia, Florence, Novara, Verona, Cagliari and Nuoro in Sardinia, and Bari and Taranto in Apulia), whose cases are incident lymphoma patients and whose controls, frequency-matched to cases by age and sex, are cancer-free hospital patients in most centres and a random sample of the general population in Cagliari and Nuoro, interviewed about lifetime occupational history and other exposures to study gene-environment interactions in lymphoma etiology."; "PMID:33910586"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 867; "ItGxE participants in the own 2011-2017 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "Overall, 867 incident lymphoma cases and 774 controls participated in the study." . _:3c6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 774; "ItGxE participants in the own 2011-2017 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "Overall, 867 incident lymphoma cases and 774 controls participated in the study." . _:3c6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1641; "ItGxE participants in the own 2011-2017 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8082925/fullTextXML"; rdfs:comment "Total867 (100)774 (100)1641 (100)" . _:3c702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ItGxE"; . _:3c712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Italian GxE"; . _:3c722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Italian_GxE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17113, _:genid-371333f489424440b12a13b9d98ced822608-genid17115; , ; "PMID:23554133"; "A cross-sectional study of the prevalence of asthma and allergies in Jamaican adolescents whose mothers had been recruited into the Jamaica Perinatal Mortality Survey of 1986, which included all children born in Jamaica in September–October 1986; children from Kingston, St Andrew and St Catherine were contacted at ages 11 and 16 in a child development study and again at 18, and asthma was ascertained with a modified International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire validated in the Jamaican population and, for adults followed in clinic since birth, from medical records. It is one of the asthma genetics studies of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)."; 897; "JAAS"; rdfs:label "Jamaican Adolescent Asthma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17113 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17115 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17113; "asthma"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Jamaican Adolescent Asthma Study (JAAS) is a cross-sectional study on the prevalence of asthma and allergies in 897 Jamaican adolescents [29]." . _:3c742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17115; "allergies"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Jamaican Adolescent Asthma Study (JAAS) is a cross-sectional study on the prevalence of asthma and allergies in 897 Jamaican adolescents [29]." . _:3c752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4051322/unicode"; rdfs:comment "A sample of 706 unrelated individuals (177 asthmatics, 529 nonasthmatic controls) was recruited from Kingston, St. Andrew, and St. Catherine, Jamaica as part of the Jamaican Adolescent Asthma Study as described in supplementary materials and methods and in references." . _:3c762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23554133"; "African ancestry is a risk factor for asthma and high total IgE levels in African admixed populations."; "PMID:23554133", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4051322/unicode"; rdfs:comment "A sample of 706 unrelated individuals (177 asthmatics, 529 nonasthmatic controls) was recruited from Kingston, St. Andrew, and St. Catherine, Jamaica as part of the Jamaican Adolescent Asthma Study as described in supplementary materials and methods and in references." . _:3c772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of the prevalence of asthma and allergies in Jamaican adolescents whose mothers had been recruited into the Jamaica Perinatal Mortality Survey of 1986, which included all children born in Jamaica in September–October 1986; children from Kingston, St Andrew and St Catherine were contacted at ages 11 and 16 in a child development study and again at 18, and asthma was ascertained with a modified International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire validated in the Jamaican population and, for adults followed in clinic since birth, from medical records. It is one of the asthma genetics studies of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)."; "PMID:23554133", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms12522/MediaObjects/41467_2016_BFncomms12522_MOESM1276_ESM.pdf", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 897; "Jamaican adolescents in the cross-sectional prevalence study"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Jamaican Adolescent Asthma Study (JAAS) is a cross-sectional study on the prevalence of asthma and allergies in 897 Jamaican adolescents [29]." . _:3c792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JAAS"; . a owl:NamedIndividual, ; , , ; "PMID:24244950"; "A study of exceptional longevity, approved by the ethics committee of Keio University School of Medicine, that enrols centenarians from throughout Japan, with an emphasis on semi-supercentenarians aged 105 or more whose ages are validated with the Basic Resident Registration Card, together with referent subjects (spouses of centenarians' offspring and healthy younger volunteers), and whose genotyped cases and geographically matched controls serve as a Japanese case-control set in genetic studies of extreme old age."; "The acronym JCS also denotes Johannesburg Cancer Study (COHO:0000823); this term is Japanese Centenarian Study."@en; 513; 561; "JCS"; rdfs:label "Japanese Centenarian Study"@en . _:3c7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3808698/fullTextXML"; rdfs:comment "The JCS enrolls Japanese centenarians from throughout Japan with an emphasis upon recruiting semi-supercentenarians (age 105+ years) and referent cohort subjects comprising spouses of centenarians' offspring and healthy younger volunteers." . _:3c7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24244950"; "Meta‐analysis of genetic variants associated with human exceptional longevity."; "PMID:24244950", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3808698/"; rdfs:comment "The Japanese Centenarian Study (JCS) included 513 long lived individuals (median survival 106 years; age range 100-114) and 561 geographically matched controls (median age 75 years; range: 26-89)." . _:3c7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of exceptional longevity, approved by the ethics committee of Keio University School of Medicine, that enrols centenarians from throughout Japan, with an emphasis on semi-supercentenarians aged 105 or more whose ages are validated with the Basic Resident Registration Card, together with referent subjects (spouses of centenarians' offspring and healthy younger volunteers), and whose genotyped cases and geographically matched controls serve as a Japanese case-control set in genetic studies of extreme old age."; "PMID:20011587", "PMID:24244950"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 513; "long-lived individuals (cases) and geographically matched controls of the JCS in the 2013 longevity meta-analysis (genotyped set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3808698/"; rdfs:comment "The Japanese Centenarian Study (JCS) included 513 long lived individuals (median survival 106 years; age range 100-114) and 561 geographically matched controls (median age 75 years; range: 26-89)." . _:3c7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 561; "long-lived individuals (cases) and geographically matched controls of the JCS in the 2013 longevity meta-analysis (genotyped set)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3808698/"; rdfs:comment "The Japanese Centenarian Study (JCS) included 513 long lived individuals (median survival 106 years; age range 100-114) and 561 geographically matched controls (median age 75 years; range: 26-89)." . _:3c7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The PGS Catalog records no score or paper for this id (its REST record is empty); the name is copied from Todd et al. 2007 (PMID:17554260). The PGS Catalog name is the source of the id: Todd et al. 2007 calls the case sample 'the JDRF/WT Diabetes and Inflammation Laboratory's JDRF/WT British case collection (Genetic Resource Investigating Diabetes)', so the JDRF/WT British case collection is GRID, already in COHO as COHO:0001013 (whose definition already says it was assembled by the JDRF/WT Diabetes and Inflammation Laboratory). Add JDRF/WT as an acronym and the collection names as synonyms, and obsolete the placeholder COHO:0001943 in favour of COHO:0001013. Replaced by COHO:0001013 (Genetic Resource Investigating Diabetes), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratorys British case collection"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17128; , , ; "PMID:23565137"; "A case-control collection of blood samples from Japanese patients with clinically validated late-onset Alzheimer's disease meeting the NINCDS-ADRDA criteria and from elderly people without signs of dementia living unassisted in the local community, gathered by the members of the Japanese Genetic Study Consortium for Alzheimer's Disease for candidate-gene and genome-wide association studies of Alzheimer's disease in the Japanese population."; 1656; 1656; 3312; "JGSCAD", "Japanese Genetic Consortium for Alzheimer Disease", "Japanese Genetic Study Consortium for AD", "Japanese Genetic Study Consortium of Alzheimer’s Disease"; rdfs:label "Japanese Genetic Study Consortium for Alzheimer's Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17128 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17128; "late-onset Alzheimer's disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2986257/"; rdfs:comment "Blood samples were collected by the Japanese Genetic Study Consortium for AD (JGSCAD): the members are listed in our recent publications.10, 11 The LOAD patients were clinically validated, and satisfied the criteria of the National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association for a diagnosis of probable AD." . _:3c812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23565137"; "SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians."; "PMID:23565137", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23565137+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC)." . _:3c822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of blood samples from Japanese patients with clinically validated late-onset Alzheimer's disease meeting the NINCDS-ADRDA criteria and from elderly people without signs of dementia living unassisted in the local community, gathered by the members of the Japanese Genetic Study Consortium for Alzheimer's Disease for candidate-gene and genome-wide association studies of Alzheimer's disease in the Japanese population."; "PMID:18854865", "PMID:23565137", "PMID:39428694"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1656; "LOAD patients and controls collected by JGSCAD and genotyped in the 2009 GAB2 study (one paper's sample)"; "PMID:18854865"; rdfs:comment "The total sample size is 1656 LOAD patients (female, 71.6%) and 1656 controls (female, 58.7%), which is large enough to detect risk alleles assuming OR>1.3 (range of risk allele frequency=0.1–0.9, α=0.05, power=80%)." . _:3c842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1656; "LOAD patients and controls collected by JGSCAD and genotyped in the 2009 GAB2 study (one paper's sample)"; "PMID:18854865"; rdfs:comment "The total sample size is 1656 LOAD patients (female, 71.6%) and 1656 controls (female, 58.7%), which is large enough to detect risk alleles assuming OR>1.3 (range of risk allele frequency=0.1–0.9, α=0.05, power=80%)." . _:3c852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3312; "LOAD patients and controls collected by JGSCAD and genotyped in the 2009 GAB2 study (one paper's sample)"; "PMID:18854865"; rdfs:comment "To determine whether the GAB2 association can be replicated in Japanese or not, we analyzed the 10 SNPs using a total of 3312 clinical subjects for genotyping (see Supplementary Figure 2)." . _:3c862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JGSCAD"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Johns Hopkins Hospital (JHH) is an institution: the PGS Catalog cohort id denotes hospital-based case series from Johns Hopkins Hospital (prostate cancer patients undergoing radical prostatectomy in Black et al. 2020, pancreatic cancer cases in the PanScan scores), not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Johns Hopkins Hospital"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Johns Hopkins Sibling and Family Heart Study is the former name of GeneSTAR: 'The study was originally known as the Johns Hopkins Sibling and Family Heart Study, and was more recently renamed GeneSTAR' (PMID:21785111). Replaced by COHO:0000455 (Genetic Study of Atherosclerosis Risk), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Johns Hopkins Sibling and Family Heart Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17136; "PGS005200", "PMID:40691366"; "A clinical case collection of the Johns Hopkins University School of Medicine that since September 2008 has collected samples and clinical information from patients over 18 years of age referred for catheter ablation of symptomatic, drug-refractory atrial fibrillation, taken before the ablation procedure, for genetic studies of atrial fibrillation."; "JHU AF", "JHU-AF", "JHU_AF", "Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Cohort", "The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study"; ; rdfs:label "Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17136 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17136; "atrial fibrillation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Cohort started collecting data in September 2008 on patients >18 years of age that were referred for catheter ablation of symptomatic drug refractory atrial fibrillation." . _:3c882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3c892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study (JHU_AF) S.N. is supported by grants from the US NIH/NHLBI, as well as Biosense Webster, ImriCor, and ADAS software." . _:3c8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinical case collection of the Johns Hopkins University School of Medicine that since September 2008 has collected samples and clinical information from patients over 18 years of age referred for catheter ablation of symptomatic, drug-refractory atrial fibrillation, taken before the ablation procedure, for genetic studies of atrial fibrillation."; "PMID:29892015"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JHU AF"; . _:3c8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JHU-AF"; . _:3c8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JHU_AF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17144; , ; "PGS004896", "PMID:39435665"; "A longitudinal observational study, led from the Research Division of the Joslin Diabetes Center in Boston, of adults with type 1 or type 2 diabetes attending the Joslin Clinic, enrolled in several cohorts from 1991 onwards with the aim of taking all eligible patients with albuminuria and a similar number drawn at random from those with normoalbuminuria, and followed for the development and progression of diabetic kidney disease, including kidney function decline and end-stage kidney disease."; "JKS"; ; rdfs:label "Joslin Kidney Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17144 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17144; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2682673/fullTextXML"; rdfs:comment "the Joslin Kidney Study on the Genetics of Diabetic Nephropathy, a clinic-based cohort study in which case subjects with diabetic nephropathy and a random sampling of eligible control subjects were identified and recruited" . _:3c8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8060327/fullTextXML"; rdfs:comment "Study subjects were recruited from approximately 3,500 adult patients (95% Caucasian) with T1D who received care at the Joslin Clinic (Boston, MA) between 1991 and 2009" . _:3c902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004896"; "Albuminuria-Related Genetic Biomarkers: Replication and Predictive Evaluation in Individuals with and without Diabetes from the UK Biobank."; "PMID:37446387" . _:3c912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39435665"; "Circulating proteins linked to apoptosis processes and fast development of end-stage kidney disease in diabetes."; "PMID:39435665", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11529980/fullTextXML"; rdfs:comment "Participants were selected from among individuals who were enrolled into the Joslin Kidney Study (JKS) and were followed for 7–15 years." . _:3c922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational study, led from the Research Division of the Joslin Diabetes Center in Boston, of adults with type 1 or type 2 diabetes attending the Joslin Clinic, enrolled in several cohorts from 1991 onwards with the aim of taking all eligible patients with albuminuria and a similar number drawn at random from those with normoalbuminuria, and followed for the development and progression of diabetic kidney disease, including kidney function decline and end-stage kidney disease."; "PMID:33883567", "PMID:39435665", "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JKS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17151; , , ; ; "PMID:25516442"; "A collaborative hospital-based case-control study of lung cancer in ethnic Japanese that enrolled patients with no history of cancer who were histologically diagnosed with lung cancer, and age- and sex-matched first-visit outpatients of the same period confirmed to have no cancer or history of neoplasia, at the Aichi Cancer Center Research Institute and the National Cancer Center Hospital; its never-smoking female cases and controls form the Japanese study of the Female Lung Cancer Consortium in Asia."; 425; 549; "JLCS"; rdfs:label "Japanese Female Lung Cancer Collaborative Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17151 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17151; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Case subjects were patients with no history of cancer who were histologically diagnosed with lung cancer." . _:3c952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "JLCS Japan 425 407 10 549" . _:3c962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25516442"; "Genetic variants associated with longer telomere length are associated with increased lung cancer risk among never-smoking women in Asia: a report from the female lung cancer consortium in Asia."; "PMID:25516442", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4733320/"; rdfs:comment "JLCS: Japanese Female Lung Cancer Collaborative Study" . _:3c972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative hospital-based case-control study of lung cancer in ethnic Japanese that enrolled patients with no history of cancer who were histologically diagnosed with lung cancer, and age- and sex-matched first-visit outpatients of the same period confirmed to have no cancer or history of neoplasia, at the Aichi Cancer Center Research Institute and the National Cancer Center Hospital; its never-smoking female cases and controls form the Japanese study of the Female Lung Cancer Consortium in Asia."; "PMID:23143601", "PMID:28025329"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 425; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "JLCS Japan 425 407 10 549 59.1( 9.3) 59.3( 8.9) 58.3(10.0) 59.1( 9.4) NA*" . _:3c992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 549; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "JLCS Japan 425 407 10 549 59.1( 9.3) 59.3( 8.9) 58.3(10.0) 59.1( 9.4) NA*" . _:3c9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17159; , ; "PMID:23001564"; "A population-based cohort study in Jerusalem, Israel, begun in 1976–1979 as a cardiovascular prevalence study that followed the protocols of the North American Lipid Research Clinics prevalence studies, examining full age cohorts of 17-year-old Jewish residents of Jerusalem and many of their parents to describe plasma lipids and lipoproteins; samples of both generations were re-examined in later phases, the young participants at about 30 and 43 years of age in its longitudinal study."; "JLRC", "Jerusalem LRC", "Jerusalem LRC Longitudinal Study", "Jerusalem LRC Prevalence Study", "Jerusalem LRC longitudinal study", "Jerusalem Lipid Research Clinic", "Jerusalem Lipid Research Clinic cohort study", "Jerusalem Lipid Research Clinic prevalence study", "LRC"; rdfs:label "Jerusalem Lipid Research Clinic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17159 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3c9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17159; "cardiovascular disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3145913/"; rdfs:comment "the population-based Jerusalem Lipid Research Clinic (LRC) cohort study which was initiated in the 1970s as a cardiovascular prevalence study, using protocols of the North American LRC prevalence studies" . _:3c9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3798089/fullTextXML"; rdfs:comment "Leukocyte telomere length was measured on two occasions, at baseline and follow-up examinations in 1156 adult (44% women) in four studies: in Israel, the Jerusalem Lipid Research Clinic (LRC; Kark et al., 2012); in the USA, the Bogalusa Heart Study (BHS; Aviv et al., 2009);" . _:3c9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23001564"; "Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans."; "PMID:23001564", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3510758/"; rdfs:comment "Samples from the Jerusalem LRC Longitudinal Study (N = 620) (68), Health ABC study (N = 337) (69), from ADELAHYDE-Nancy study and ERA-France study (N = 316) (70,71) and from a Danish collection (N = 964) (47) were included in the replication stage." . _:3c9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study in Jerusalem, Israel, begun in 1976–1979 as a cardiovascular prevalence study that followed the protocols of the North American Lipid Research Clinics prevalence studies, examining full age cohorts of 17-year-old Jewish residents of Jerusalem and many of their parents to describe plasma lipids and lipoproteins; samples of both generations were re-examined in later phases, the young participants at about 30 and 43 years of age in its longitudinal study."; "PMID:21220750", "PMID:22237065", "PMID:26406330", "PMID:7161042"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3c9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JLRC"; . _:3ca02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17166; , ; , , ; ; "PMID:26390057"; "A Japanese collaborative sample, assembled within the nationally based cooperative Millennium Genome Project for genetic studies of hypertension, that combines seven independent cohorts for studies of cardiovascular diseases and related risk factors: the Ohasama, Shigaraki, Takashima, Suita and Nomura studies, general-population studies of community residents recruited through medical check-ups, and the Yokohama and Matsuyama cohorts of employees of large manufacturing industries."; 14105; "JMGP", "Japanese Millenium Genome Project", "Japanese Millennium Cohort", "Millennium GPJ", "The Japanese Millennium Genome Project"; rdfs:label "Japanese Millennium Genome Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17166 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ca12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17166; "cardiovascular diseases"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3405/MediaObjects/41588_2015_BFng3405_MOESM35_ESM.pdf"; rdfs:comment "The Japanese Millennium Genome Project comprises seven independent study cohorts for studies of cardiovascular diseases and related risk factors." . _:3ca22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5003412/"; rdfs:comment "The Ohasama, Shigaraki, Takashima, Suita, and Nomura studies are general population-based genetic epidemiological studies." . _:3ca32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5003412/"; rdfs:comment "The Ohasama, Shigaraki, Takashima, Suita, and Nomura studies are general population-based genetic epidemiological studies." . _:3ca42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10405/MediaObjects/41586_2011_BFnature10405_MOESM207_ESM.pdf"; rdfs:comment "The Yokohama (Yokohama City University) and Matsuyama (Ehime University) cohorts are derived from employees of large manufacturing industries located in Kanagawa and Matsuyama City, Ehime Prefecture (western part of Japan)48 , respectively." . _:3ca52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26390057"; "Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation."; "PMID:26390057", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3405/MediaObjects/41588_2015_BFng3405_MOESM35_ESM.pdf"; rdfs:comment "The Japanese Millennium Genome Project comprises seven independent study cohorts for studies of cardiovascular diseases and related risk factors." . _:3ca62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Japanese collaborative sample, assembled within the nationally based cooperative Millennium Genome Project for genetic studies of hypertension, that combines seven independent cohorts for studies of cardiovascular diseases and related risk factors: the Ohasama, Shigaraki, Takashima, Suita and Nomura studies, general-population studies of community residents recruited through medical check-ups, and the Yokohama and Matsuyama cohorts of employees of large manufacturing industries."; "PMID:20921432", "PMID:21909115", "PMID:26390057"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ca72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14105; "individuals of the seven combined cohorts in the project's population sample (2010)"; "PMID:20921432"; rdfs:comment "Seven independent study cohorts for cardiovascular diseases and related risk factors were combined to compose a large-scale Japanese genetic epidemiological population sample of 14 105." . _:3ca82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JMGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17175; , , ; ; "PMID:31844061"; "A matched case-control study of severe malaria in children aged 3 months to 10 years in Muheza, Tanga region, north-eastern Tanzania, carried out in 2006–2008 by the Joint Malaria Programme (Kilimanjaro Christian Medical Centre, Moshi) with the London School of Hygiene and Tropical Medicine. Its cases were children admitted to Teule Hospital with severe malaria, recruited within a study of severe febrile illness, and its controls were healthy children from the community individually matched on parental tribal origin, ward of residence and age; its clinical data and DNA samples were contributed to MalariaGEN Consortial Project 1 and used in candidate-gene and genome-wide association studies of severe malaria."; 501; 504; "JMPKCMC", "Joint Malaria Programme, Kilimanjaro Christian Medical Centre"; rdfs:label "Human genetic determinants of severe malaria in North East Tanzania"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17175 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ca92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17175; "severe malaria"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-north-east-tanzania/"; rdfs:comment "A matched case-control study (children aged 3 months-10 years) was carried out in Muheza, Tanzania between 2006-2008 with the aim of identifying the genes involved in protection against severe malaria, and the sub-phenotypes acidosis, severe malarial anaemia, cerebral malaria, shock, respiratory distress and bacteraemia." . _:3caa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-north-east-tanzania/"; rdfs:comment "The Joint Malaria Programme together with the London School of Hygiene and Tropical Medicine recruited severe malaria cases and healthy participants from Teule Hospital and community, respectively, in Muheza, North East Tanzania." . _:3cab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31844061"; "Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania."; "PMID:31844061", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6914791/fullTextXML"; rdfs:comment "Tanzania/KCMC/JMP received funding from MRC grant number (G9901439)." . _:3cac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A matched case-control study of severe malaria in children aged 3 months to 10 years in Muheza, Tanga region, north-eastern Tanzania, carried out in 2006–2008 by the Joint Malaria Programme (Kilimanjaro Christian Medical Centre, Moshi) with the London School of Hygiene and Tropical Medicine. Its cases were children admitted to Teule Hospital with severe malaria, recruited within a study of severe febrile illness, and its controls were healthy children from the community individually matched on parental tribal origin, ward of residence and age; its clinical data and DNA samples were contributed to MalariaGEN Consortial Project 1 and used in candidate-gene and genome-wide association studies of severe malaria."; "PMID:23144702", "PMID:29381699", "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-north-east-tanzania/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 501; "severe malaria cases and healthy community controls contributed to MalariaGEN CP1 (2006-2008)"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-north-east-tanzania/"; rdfs:comment "Malaria cases: 501 Male: 260 (52) Female: 224 (45) Not recorded: 18 (3) <1: 121 (24) 1-2: 172 (34) 2-5: 188 (38) 5-15: 20 (4) Mzigua: 132 (26) Wasambaa: 100 (20) Other: 269 (54) Healthy controls: 504" . _:3cae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 504; "severe malaria cases and healthy community controls contributed to MalariaGEN CP1 (2006-2008)"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-north-east-tanzania/"; rdfs:comment "Malaria cases: 501 Male: 260 (52) Female: 224 (45) Not recorded: 18 (3) <1: 121 (24) 1-2: 172 (34) 2-5: 188 (38) 5-15: 20 (4) Mzigua: 132 (26) Wasambaa: 100 (20) Other: 269 (54) Healthy controls: 504" . _:3caf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JMPKCMC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. Kanagawa Cancer Center is a cancer hospital in Yokohama. In the genetic papers that use its samples it is one of several hospital sources of lung adenocarcinoma cases (PMID:37236969), with no study name of its own, and no score in the PGS Catalog uses the id. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Kanagawa Cancer Center"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17183, _:genid-371333f489424440b12a13b9d98ced822608-genid17185, _:genid-371333f489424440b12a13b9d98ced822608-genid17187, _:genid-371333f489424440b12a13b9d98ced822608-genid17189; , , ; "PGS000037", "PMID:20860503"; "A study begun in 1998 that compares allergic symptoms and diseases, atopic sensitisation and their environmental and microbial determinants in children and adults of the adjacent Finnish and Russian parts of Karelia, areas that are geoclimatically similar but socio-economically distinct."; "KARELIA"; ; rdfs:label "Karelia Allergy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17183 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17185 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17187 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17189 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17183; "lifestyle"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10043497/"; rdfs:comment "A living laboratory was born to study impact of lifestyle, environment, microbiome, and genetics on allergy and asthma." . _:3cb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17185; "environment"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10043497/"; rdfs:comment "A living laboratory was born to study impact of lifestyle, environment, microbiome, and genetics on allergy and asthma." . _:3cb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17187; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9234912/"; rdfs:comment "The Karelia Allergy Study was initiated 23 years ago to study the prevalence of allergies and asthma in adjacent geographically similar regions—Russian (RUS) and Finnish (FIN) Karelia." . _:3cb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17189; "allergies"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9234912/"; rdfs:comment "The Karelia Allergy Study was initiated 23 years ago to study the prevalence of allergies and asthma in adjacent geographically similar regions—Russian (RUS) and Finnish (FIN) Karelia." . _:3cb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9234912/"; rdfs:comment "In the Karelia Allergy Study, children aged 7–16 years were randomly selected from the Finnish Karelia (North Karelia, Finland; n = 344), and Russian Karelia (Pitkäranta, the Republic of Karelia; n = 427) to examine asthma and allergy prevalence (8)." . _:3cb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:3cb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20860503"; "A large-scale, consortium-based genomewide association study of asthma."; "PMID:20860503", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4260321/"; rdfs:comment "Karelia Allergy Study Finland 73 33 (61) 40 (0) 75 36 (61) 39 (0)" . _:3cb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study begun in 1998 that compares allergic symptoms and diseases, atopic sensitisation and their environmental and microbial determinants in children and adults of the adjacent Finnish and Russian parts of Karelia, areas that are geoclimatically similar but socio-economically distinct."; "PMID:25772429"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KARELIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17196, _:genid-371333f489424440b12a13b9d98ced822608-genid17198; , ; "PGS000733", "PMID:33623038"; "A case-control study of prostate cancer in Guadeloupe, French West Indies, carried out between 2004 and 2007, whose cases are men newly diagnosed with prostate cancer in Guadeloupe in that period and whose controls are a random sample of men over 44 years old invited to the free health screening programme of the French national health insurance."; 623; 671; "French West Indies Prostate cancer Study", "French West Indies Prostate cancer Study (from Karukera, the original Caribbean name of Guadeloupe)", "KARUPROSTATE", "Karuprostate", "Karuprostate study"; ; rdfs:label "French West Indies Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17196 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17198 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17196; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20566993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated 623 men with prostate cancer and 671 controls." . _:3cba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17198; "chlordecone"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20566993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed the relationship between exposure to chlordecone and the risk of prostate cancer." . _:3cbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4942950/fullTextXML"; rdfs:comment "For prostate cancer, the KARUPROSTATE study includes 623 cases (new cases of prostate cancer diagnosed in Guadeloupe between 2004 and 2007) and 671 controls." . _:3cbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:3cbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "KARUPROSTATE (n=749) French West Indies Prostate Cancer Study French West Indies Case-control" . _:3cbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of prostate cancer in Guadeloupe, French West Indies, carried out between 2004 and 2007, whose cases are men newly diagnosed with prostate cancer in Guadeloupe in that period and whose controls are a random sample of men over 44 years old invited to the free health screening programme of the French national health insurance."; "PMID:23785499", "PMID:27406382"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 623; "Karuprostate cases and controls in its own 2010 chlordecone study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20566993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated 623 men with prostate cancer and 671 controls." . _:3cc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 671; "Karuprostate cases and controls in its own 2010 chlordecone study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20566993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated 623 men with prostate cancer and 671 controls." . _:3cc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KARUPROSTATE"; . _:3cc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Karuprostate"; . a owl:NamedIndividual, ; , , ; "PMID:33627073"; "A prospective longitudinal cohort study of community-dwelling residents of Kawasaki City in the Greater Tokyo Area, Japan, aged 85 to 89 and without limitations in basic activities of daily living at baseline, enrolled at hospitals in the city between March 2017 and December 2018, to study the trajectories of functional decline, frailty and cognitive impairment at advanced age and the genetic, biological, behavioural and socioenvironmental factors that delay or modify them."; 1026; "KAWP"; rdfs:label "Kawasaki Aging and Wellbeing Project"@en . _:3cc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10346016/fullTextXML"; rdfs:comment "This cross-sectional study used data from the Kawasaki Aging and Wellbeing Project (KAWP) conducted in Kawasaki city (Kanagawa Prefecture, Japan)(21)." . _:3cc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33627073"; "Behavioral changes and hygiene practices of older adults in Japan during the first wave of COVID-19 emergency."; "PMID:33627073", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33627073+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A cross-sectional telephonic survey was conducted with the participants of the Kawasaki Aging and Wellbeing Project (KAWP), an on-going longitudinal cohort study of older adults aged 85 or older." . _:3cc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective longitudinal cohort study of community-dwelling residents of Kawasaki City in the Greater Tokyo Area, Japan, aged 85 to 89 and without limitations in basic activities of daily living at baseline, enrolled at hospitals in the city between March 2017 and December 2018, to study the trajectories of functional decline, frailty and cognitive impairment at advanced age and the genetic, biological, behavioural and socioenvironmental factors that delay or modify them."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10346016/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7903371/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1026; "community-dwelling adults aged 85-89 enrolled at baseline (2017-2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7903371/fullTextXML"; rdfs:comment "Between March 2017 and December 2018, a total of 1026 independent seniors were enrolled in the KAWP and a comprehensive baseline assessment, including assessment of physical, mental, and cognitive function as well as social participation was conducted (Fig. 1)." . _:3cc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KAWP"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: KBA is strictly the name of a genotyping array and project; the sample it denotes is KoGES participants genotyped on it, not a separately recruited cohort. In PMID:32499647 KBA and KARE (Ansan and Ansung Study, COHO:0000530, a KoGES cohort genotyped earlier on another array) appear as separate study groups, so 'KBA' there is the KBA-genotyped part of KoGES; KoGES (COHO:0000411) is still the term it belongs to. If the curator prefers not to attach an array's name to a cohort, the alternative verdict is 'not a cohort' (a genotyping project on KoGES samples). The PGS name is a garbled fragment of the sentence 'The Korea National Institute of Health launched the Korea Biobank Array (KBA) project in 2014' (PMID:36333282). The KBA is the Korean genotyping array used on the KoGES cohorts' samples held at the National Biobank of Korea, and PMID:40778152 calls the sample 'Korean Biobank Array from the Korean Genome and Epidemiology (KoGES) Consortium (KBA)'. So the id denotes KoGES participants genotyped on the KBA: the existing aggregation KoGES (COHO:0000411). Add KBA as an acronym and the array/project names (including the catalog's name) as synonyms; obsolete placeholder COHO:0001957 in favour of COHO:0000411. Replaced by COHO:0000411 (Korean Genome and Epidemiology Study), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete National Institute of Health launched the Korea Biobank Array project"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17213, _:genid-371333f489424440b12a13b9d98ced822608-genid17215; , , ; "PMID:33436035"; "The independent, nationwide validation cohort of the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's disease (KBASE), which recruited cognitively normal people and people with subjective cognitive decline, mild cognitive impairment or Alzheimer's disease dementia at nine memory clinics across South Korea from April 2015 to August 2016 under the same criteria as KBASE, and followed them annually for three years, to reconfirm biomarkers identified in KBASE and to find risk and prognostic factors for Alzheimer's disease."; "KBASE-V", "Korean Brain Aging Study for the Early Diagnosis and Prediction of AD"; rdfs:label "Validation Cohort of Korean Brain Aging Study for the Early Diagnosis and Prediction of AD"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17213 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17215 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17213; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6463169/fullTextXML"; rdfs:comment "We recruited 71 cognitively normal (CN) participants, 96 with subjective cognitive decline (SCD), 72 with mild cognitive impairment (MCI), and 56 with AD dementia (ADD)." . _:3cc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17215; "AD dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6463169/fullTextXML"; rdfs:comment "We recruited 71 cognitively normal (CN) participants, 96 with subjective cognitive decline (SCD), 72 with mild cognitive impairment (MCI), and 56 with AD dementia (ADD)." . _:3cca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6463169/fullTextXML"; rdfs:comment "We have recruited 71 CN participants, 96 SCD, 72 MCI, and 56 ADD in nine memory clinics across South Korea from April 2015 to August 2016." . _:3ccb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33436035"; "Alzheimer's cerebrospinal biomarkers from Lumipulse fully automated immunoassay: concordance with amyloid-beta PET and manual immunoassay in Koreans : CSF AD biomarkers measured by Lumipulse in Koreans."; "PMID:33436035", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7802266/fullTextXML"; rdfs:comment "Herein, we analyzed CSF samples from a validation cohort in the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer’s Disease (KBASE-V study) using a fully automated immunoassay Lumipulse G and two manual immunoassay platforms: xMAP-Luminex INNOBIA-AlzBio3 multiplex assay (Luminex) and ELISA with INNOTEST kit (INNOTEST) for Aβ42, Aβ40 (only for INNOTEST and Lumipulse G), t-tau, or p-tau." . _:3ccc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The independent, nationwide validation cohort of the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's disease (KBASE), which recruited cognitively normal people and people with subjective cognitive decline, mild cognitive impairment or Alzheimer's disease dementia at nine memory clinics across South Korea from April 2015 to August 2016 under the same criteria as KBASE, and followed them annually for three years, to reconfirm biomarkers identified in KBASE and to find risk and prognostic factors for Alzheimer's disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6463169/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7802266/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ccd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KBASE-V"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17221; , ; , ; "PGS001778", "PMID:32424353"; "A breast cancer study in eastern Finland whose cases are women seen at Kuopio University Hospital between 1990 and 1995 because of a breast lump, mammographic abnormality or other breast symptom and found to have breast cancer, and whose controls were selected from the National Population Register over the same years, matched to cases by age and long-term area of residence."; 516; "KBCP"; ; rdfs:label "Kuopio Breast Cancer Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17221 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17221; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "KBCP Kuopio Breast Cancer Project 24 Finland Women seen at Kuopio University Hospital between 1990-1995 because of a breast lump, mammographic abnormality, or other breast symptom and who were found to have breast cancer Selected from the National Population Register between 1990-1995; age and long-term area-of- residence matched to cases" . _:3ccf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "KBCP Kuopio Breast Cancer Project 24 Finland Women seen at Kuopio University Hospital between 1990-1995 because of a breast lump, mammographic abnormality, or other breast symptom and who were found to have breast cancer Selected from the National Population Register between 1990-1995; age and long-term area-of- residence matched to cases" . _:3cd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:3cd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:3cd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer study in eastern Finland whose cases are women seen at Kuopio University Hospital between 1990 and 1995 because of a breast lump, mammographic abnormality or other breast symptom and found to have breast cancer, and whose controls were selected from the National Population Register over the same years, matched to cases by age and long-term area of residence."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23148692+AND+SRC%3AMED&format=json&resultType=core"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 516; "women diagnosed with breast cancer in KBCP recruitment, 1990-1995"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5095781/fullTextXML"; rdfs:comment "Altogether 516 women out of 1,919 were eventually diagnosed to have breast cancer." . _:3cd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KBCP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17229; , ; , , ; ; "PGS000004", "PMID:22267197"; "A breast cancer case-control set contributed to the Breast Cancer Association Consortium (BCAC) that combines, as cases, the index (youngest affected) cases of BRCA1- and BRCA2-mutation-negative multiple-case breast and breast-ovarian cancer families recruited since 1998 through family cancer clinics across Australia and New Zealand by the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), and, as controls, women identified from the electoral rolls across Australia in 2002–2006 by the Australian Ovarian Cancer Study (AOCS)."; "KCONFAB/AOCS", "Kathleen Cuningham Foundation Consortium for research into Familial Breast Cancer/Australian Ovarian Cancer Study", "kConFab/AOCS"; ; rdfs:label "Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer / Australian Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17229 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17229; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/supplementaryFiles"; rdfs:comment "Index (youngest affected) cases from BRCA1- and BRCA2-mutation-negative multiple-case breast and breast-ovarian families recruited though family cancer clinics from across Australia and New Zealand from 1998-present" . _:3cd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/fullTextXML"; rdfs:comment "G.C.-T. led the contribution of kConFab cases and AOCS controls to BCAC, J.Beesley and X.C. performed iPLEX genotyping for several of the BCAC sites." . _:3cd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/fullTextXML"; rdfs:comment "G.C.-T. led the contribution of kConFab cases and AOCS controls to BCAC, J.Beesley and X.C. performed iPLEX genotyping for several of the BCAC sites." . _:3cd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/supplementaryFiles"; rdfs:comment "kConFab/ AOCS Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer / Australian Ovarian Cancer Study 25 Australia Index (youngest affected) cases from BRCA1- and BRCA2-mutation-negative multiple-case breast and breast-ovarian families recruited though family cancer clinics from across Australia and New Zealand from 1998-present Identified from the electoral rolls from across Australia as part of the Australian Ovarian Cancer Study in 2002-2006" . _:3cd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:3cda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22267197"; "Genome-wide association analysis identifies three new breast cancer susceptibility loci."; "PMID:22267197", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3653403/fullTextXML"; rdfs:comment "G.C.-T. led the contribution of kConFab cases and AOCS controls to BCAC, J.Beesley and X.C. performed iPLEX genotyping for several of the BCAC sites." . _:3cdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer case-control set contributed to the Breast Cancer Association Consortium (BCAC) that combines, as cases, the index (youngest affected) cases of BRCA1- and BRCA2-mutation-negative multiple-case breast and breast-ovarian cancer families recruited since 1998 through family cancer clinics across Australia and New Zealand by the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), and, as controls, women identified from the electoral rolls across Australia in 2002–2006 by the Australian Ovarian Cancer Study (AOCS)."; "PMID:22267197"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCONFAB/AOCS"; . _:3cdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "kConFab/AOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17239; , ; "PGS000770", "PMID:24064335"; "A cross-sectional study of osteoporosis and related traits, including bone mineral density and body composition, in randomly recruited adults of European ancestry living in and around Kansas City, Missouri."; 3497; "KCOS", "Kansas City Osteoporosis Study", "Kansas City osteoporosis study"; ; rdfs:label "Kansas-City Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17239 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17239; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7062907/fullTextXML"; rdfs:comment "The KCOS is a cross-sectional study of osteoporosis with 2,286 unrelated European ancestry participants living in and around Kansas City, Missouri, USA." . _:3cdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7062907/fullTextXML"; rdfs:comment "The KCOS is a cross-sectional study of osteoporosis with 2,286 unrelated European ancestry participants living in and around Kansas City, Missouri, USA." . _:3ce02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:3ce12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24064335"; "Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity."; "PMID:24064335", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3888264/"; rdfs:comment "The three in-house samples included those from the Omaha Osteoporosis Study (OOS, with 998 unrelated Caucasian subjects), Kansas-City Osteoporosis Study (KCOS, with 2283 unrelated Caucasian subjects) and China Osteoporosis Study (COS, with 1624 unrelated Chinese Han subjects)." . _:3ce22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of osteoporosis and related traits, including bone mineral density and body composition, in randomly recruited adults of European ancestry living in and around Kansas City, Missouri."; "PMID:31444391", "PMID:32152362"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ce32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3497; "randomly recruited Caucasian adults of the KCOS in a 2019 analysis of the group's three osteoporosis cohorts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6707235/fullTextXML"; rdfs:comment "This study used 11,315 randomly recruited Caucasian subjects, from three cross-sectional study cohorts: 5,939 from the Louisiana Osteoporosis Study (LOS, New Orleans and Baton Rouge area, Coordinates: ~30oN~90–91oW)39, 3,497 from the Kansas City Osteoporosis Study (KCOS, Kansas City area, Coordinates: ~39oN~94oW)40, and 1,879 from the Omaha Osteoporosis Study (OOS, Omaha area, Coordinates: ~41oN~96oW)41." . _:3ce42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KCOS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-28. Checked 2026-09-25: The draft left the name for research. An African American prostate cancer genetics paper that used the sample describes KCPCS as two population-based case-control studies in King County, Washington (cases from the Seattle-Puget Sound SEER registry in 1993–1996 and 2002–2005, random-digit-dialling controls); other papers from the same group confirm the design and the Fred Hutchinson base. Treated as one cohort, as the PGS Catalog and the papers treat the two King County studies (1993–1996 and 2002–2005) as one resource. Its data reach the AAPC and PRACTICAL analyses, but no text read names KCPCS as a member of the African Ancestry Prostate Cancer Consortium (COHO:0000768) or PRACTICAL (COHO:0000611) in one span, so no parent is asserted. No duplicate in COHO or this review. Curated 2026-09-28: KCPCS is the existing COHO:0000534 cohort. PMID:28145099 describes that cohort as the two population-based King County studies enrolling diagnoses in 1993-1996 and 2002-2005, matching KCPCS. Retain the existing definition, GWAS example and classifications, add the catalogue names and PGS example, and obsolete only the duplicate. Its original interview counts are reverified in PMID:19366831. Replaced by COHO:0000534 (Fred Hutchinson Prostate Cancer Study), which now carries this term's names. Found by the checks of the placeholders' names against their sources recorded in the pipeline repository, completed 2026-09-28."@en; rdfs:label "obsolete King County Prostate Cancer Studies"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17247; , , ; ; "PMID:30033078"; "A case-control study of severe Plasmodium falciparum malaria in children of Kilifi County on the coast of Kenya, carried out by the KEMRI-Wellcome Trust Research Programme in the area of the Kilifi Health and Demographic Surveillance System: its cases are children younger than 14 years admitted with severe malaria to the high-dependency ward of Kilifi County Hospital, and its controls are infants aged 3–12 months born in the same area between August 2006 and September 2010 who were recruited to a cohort study of genetic susceptibility to childhood diseases. It is the Kenyan partner study of the Malaria Genomic Epidemiology Network's multicentre case-control study of severe malaria (Consortial Project 1), whose samples were used in MalariaGEN's candidate-gene and genome-wide association studies."; 2244; 3949; 6193; "KEMRI", "KEMRI-Wellcome Research Programme, Kilifi"; rdfs:label "Kilifi severe malaria case-control study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17247 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ce52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17247; "severe malaria"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6069675/fullTextXML"; rdfs:comment "We recruited as cases children presenting with severe malaria to the high-dependency ward of Kilifi County Hospital." . _:3ce62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6069675/fullTextXML"; rdfs:comment "Our study was set in Kilifi County on the coast of Kenya." . _:3ce72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30033078"; "Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study."; "PMID:30033078", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6069675/fullTextXML"; rdfs:comment "We did a case-control study in Kilifi County, Kenya." . _:3ce82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of severe Plasmodium falciparum malaria in children of Kilifi County on the coast of Kenya, carried out by the KEMRI-Wellcome Trust Research Programme in the area of the Kilifi Health and Demographic Surveillance System: its cases are children younger than 14 years admitted with severe malaria to the high-dependency ward of Kilifi County Hospital, and its controls are infants aged 3–12 months born in the same area between August 2006 and September 2010 who were recruited to a cohort study of genetic susceptibility to childhood diseases. It is the Kenyan partner study of the Malaria Genomic Epidemiology Network's multicentre case-control study of severe malaria (Consortial Project 1), whose samples were used in MalariaGEN's candidate-gene and genome-wide association studies."; "PMID:23717212", "PMID:25261933", "PMID:26686045", "PMID:30033078", "PMID:31844061"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ce92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2244; "severe malaria cases and community infant controls (1995-2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6069675/fullTextXML"; rdfs:comment "Between June 11, 1995, and June 12, 2008, 2244 children with severe malaria were recruited to the study, and 3949 infants were included as controls." . _:3cea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3949; "severe malaria cases and community infant controls (1995-2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6069675/fullTextXML"; rdfs:comment "Between June 11, 1995, and June 12, 2008, 2244 children with severe malaria were recruited to the study, and 3949 infants were included as controls." . _:3ceb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6193; "severe malaria cases and community infant controls (1995-2010)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6069675/fullTextXML"; rdfs:comment "We report the results of a large case-control study (n=6193) of severe Plasmodium falciparum malaria, undertaken in a carefully phenotyped population." . _:3cec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEMRI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17256; , ; "PGS005331", "PMID:41844147"; "A hospital-based cohort of indigenous Arabs from all five regions of Saudi Arabia referred for cardiology care to the King Faisal Specialist Hospital and Research Center, a tertiary care hospital in Riyadh, who gave blood samples for genotyping and access to their electronic health records for phenotypes, together with a population reference group of indigenous Arabs without known cardiometabolic disease representing 28 Saudi tribes; it was set up with Massachusetts General Hospital to study polygenic scores for cardiometabolic disease in Arabs."; 6416; "KFSH&RC", "KFSH&RC cohort"; ; rdfs:label "King Faisal Specialist Hospital and Research Center cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17256 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ced2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17256; "cardiac disease"; "https://europepmc.org/api/getPdf?pmcid=PMC13092120"; rdfs:comment "The King Faisal Specialist Hospital and Research Center (KFSH&RC) cohort consists of indigenous Arabs from Saudi Arabia referred for cardiology care at KFSH&RC, a tertiary care hospital recognized throughout Saudi Arabia and the Middle East, for work-up of cardiac disease from all over the country." . _:3cee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC13092120"; rdfs:comment "King Faisal Specialist Hospital and Research Center cohort: The King Faisal Specialist Hospital and Research Center (KFSH&RC) cohort consists of indigenous Arabs from Saudi Arabia referred for cardiology care at KFSH&RC, a tertiary care hospital recognized throughout Saudi Arabia and the Middle East, for work-up of cardiac disease from all over the country." . _:3cef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005331"; "Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities."; "PMID:41844147" . _:3cf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41844147"; "Metabolic polygenic risk scores for prediction of obesity, type 2 diabetes, and related morbidities."; "PMID:41844147", "https://europepmc.org/api/getPdf?pmcid=PMC13092120"; rdfs:comment "We validated the MetPRS in three external multiethnic cohorts: All of Us (n = 245,394), Mass General Brigham Biobank (MGBB, n = 53,306), and the King Faisal Specialist Hospital and Research Center [KFSH&RC] cohort (n = 6,566) (Figure 4; Table S6)." . _:3cf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of indigenous Arabs from all five regions of Saudi Arabia referred for cardiology care to the King Faisal Specialist Hospital and Research Center, a tertiary care hospital in Riyadh, who gave blood samples for genotyping and access to their electronic health records for phenotypes, together with a population reference group of indigenous Arabs without known cardiometabolic disease representing 28 Saudi tribes; it was set up with Massachusetts General Hospital to study polygenic scores for cardiometabolic disease in Arabs."; "PMID:37852978", "PMID:41844147"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6416; "genotyped samples passing QC: 5399 cardiology patients and 1017 population reference individuals (2023)"; "PMID:37852978"; rdfs:comment "Out of 6566 samples, quality control excluded 150 samples due to variant calling missingness > 5%, heterozygosity rate > 5 standard deviations above the mean, and mismatch between genotypically-determined and self-reported sex, resulting in 6416 samples consisting of 5399 patients and 1017 reference samples." . _:3cf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KFSH&RC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17264, _:genid-371333f489424440b12a13b9d98ced822608-genid17266; , ; "PGS004922", "PMID:28921760"; "A randomized, double-blind, placebo-controlled clinical trial (NCT00666978), conducted from December 2007 to May 2010 at an urban community-based clinic in Kansas City, Missouri, of sustained-release bupropion combined with health education counselling for smoking cessation in African American light smokers (10 or fewer cigarettes per day) aged 18 or older; the third of the Kick It at Swope trials."; 540; "KIS-III", "KIS3", "Kick It at Swope 3", "Kick-it-at-Swope (KIS)-3", "Kick-it-at-Swope-3"; ; rdfs:label "Kick It at Swope III"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17264 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17266 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17264; "light smoking (≤10 cigarettes per day)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3283533/"; rdfs:comment "All participants were African American light smokers (≤10 CPD), aged 18 years or older." . _:3cf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17266; "nicotine dependence"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3283533/"; rdfs:comment "KIS-III was a randomized, double-blind placebo-controlled study with the primary aim of evaluating the efficacy of bupropion SR in combination with HE counseling for smoking cessation among African American light smokers." . _:3cf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3283533/"; rdfs:comment "This KIS-III study was the third in a series of clinical trials of African American smokers conducted at an urban community-based clinic in Kansas City (MO) that serves predominantly low-income African American patients." . _:3cf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004922"; "Transferability of Ancestry-Specific and Cross-Ancestry CYP2A6 Activity Genetic Risk Scores in African and European Populations."; "PMID:33300144" . _:3cf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28921760"; "Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences."; "PMID:28921760", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28921760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "AA smokers from two clinical trials: Pharmacogenetics of Nicotine Addiction Treatment (PNAT)-2 (NCT01314001; n = 504) and Kick-it-at-Swope (KIS)-3 (NCT00666978; n = 450)." . _:3cf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, double-blind, placebo-controlled clinical trial (NCT00666978), conducted from December 2007 to May 2010 at an urban community-based clinic in Kansas City, Missouri, of sustained-release bupropion combined with health education counselling for smoking cessation in African American light smokers (10 or fewer cigarettes per day) aged 18 or older; the third of the Kick It at Swope trials."; "PMID:22282543"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3cfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 540; "African American light smokers randomised (270 bupropion SR, 270 placebo), 2007-2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3283533/"; rdfs:comment "A total of 540 participants, recruited from December 27, 2007, to October 27, 2009, were randomly assigned to receive a 7-week supply of active bupropion SR or placebo." . _:3cfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KIS-III"; . _:3cfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KIS3"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. KLCRI is the Kentucky Lung Cancer Research Initiative, the population-based case-control study of lung cancer in Appalachian Kentucky that the lung cancer OncoArray study table lists as LCRI-DOD (PMID:28604730); a 2019 paper gives the id with the name (PMID:30059977). Replaced by COHO:0001992 (LCRI-DOD), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Kentucky Lung Cancer Research Initiative"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Korean Metabolic Syndrome Research Initiative is the programme under which the Korean Cancer Prevention Study-II Biobank recruited its health examinees; papers use the two names for the same people (PMID:25113383, PMID:27632197). Replaced by COHO:0000486 (Korean Cancer Prevention Study-II Biobank), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Korean Metabolic Syndrome Research Initiative"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. Korean National Health Insurance is South Korea's national health insurance programme and its claims database, a data source used by many unrelated studies, not a study sample; no score in the PGS Catalog uses the id. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Korean National Health Insurance"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17275; , , ; ; "PMID:25261933"; "A prospective, unmatched case-control study of severe malaria conducted in August 2006 – December 2008 in the Kumasi Metropolitan District, Ashanti Region, Ghana, with ethics approval from Komfo Anokye Teaching Hospital and the Kwame Nkrumah University of Science and Technology. Its cases were children aged 3 months to 12 years with severe malaria admitted to the Paediatric Emergency Unit of Komfo Anokye Teaching Hospital, its controls were cord-blood samples collected in the same hospital's labour ward, and blood was also taken from the biological parents of cases (family trios); its clinical data and DNA samples were contributed to MalariaGEN Consortial Project 1."; 1923; 2326; "KNUST", "Kwame Nkrumah University of Science and Technology"; rdfs:label "Human genetic determinants of severe malaria in Kumasi, Ghana"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17275 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3cfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17275; "severe malaria"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-kumasi-ghana/"; rdfs:comment "Cases consist of children (aged 3 months - 12 years) with severe malaria." . _:3cfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-kumasi-ghana/"; rdfs:comment "The studies were conducted in the Kumasi Metropolitan District of the Ashanti Region of Ghana where Kumasi is the capital city." . _:3cff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25261933"; "Reappraisal of known malaria resistance loci in a large multicenter study."; "PMID:25261933", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4617542/unicode"; rdfs:comment "Ghana (Kumasi) 1496 (4) 230 (10) 551 (2) 75 (13) 640 (2) 2042" . _:3d002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, unmatched case-control study of severe malaria conducted in August 2006 – December 2008 in the Kumasi Metropolitan District, Ashanti Region, Ghana, with ethics approval from Komfo Anokye Teaching Hospital and the Kwame Nkrumah University of Science and Technology. Its cases were children aged 3 months to 12 years with severe malaria admitted to the Paediatric Emergency Unit of Komfo Anokye Teaching Hospital, its controls were cord-blood samples collected in the same hospital's labour ward, and blood was also taken from the biological parents of cases (family trios); its clinical data and DNA samples were contributed to MalariaGEN Consortial Project 1."; "PMID:25261933", "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-kumasi-ghana/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1923; "severe malaria cases and cord-blood controls contributed to MalariaGEN CP1 (2006-2008)"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-kumasi-ghana/"; rdfs:comment "Malaria cases: 1923 Male: 954 (50) Female: 846 (44) Not recorded: 125 (6) <1: 434 (23) 1-2: 476 (25) 2-5: 713 (37) 5-15: 296 (15) Not recorded: 4 (<1) Akans (Ashanti Eastern): 1038 (54) Frafra Nankana Grushie Kusasi: 188 (10) Notherner: 186 (10) Other: 511 (27) Healthy controls: 2326" . _:3d022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2326; "severe malaria cases and cord-blood controls contributed to MalariaGEN CP1 (2006-2008)"; "https://www.malariagen.net/partner_study/human-genetic-determinants-severe-malaria-kumasi-ghana/"; rdfs:comment "Malaria cases: 1923 Male: 954 (50) Female: 846 (44) Not recorded: 125 (6) <1: 434 (23) 1-2: 476 (25) 2-5: 713 (37) 5-15: 296 (15) Not recorded: 4 (<1) Akans (Ashanti Eastern): 1038 (54) Frafra Nankana Grushie Kusasi: 188 (10) Notherner: 186 (10) Other: 511 (27) Healthy controls: 2326" . _:3d032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KNUST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17283, _:genid-371333f489424440b12a13b9d98ced822608-genid17285; , , ; "PMID:24124411"; "An open prospective cohort of Korean children, conducted by the Korea National Institute of Health, that enrolled children on entry to elementary school at age 7 (from 2005, at four elementary schools in Gwacheon) or in the fourth grade at age 10 in Seoul and Gyeonggi Province, and followed them annually from 2005 to 2020 to identify early risk factors for obesity and associated metabolic diseases; genotyped subsets were used in genome-wide association studies of childhood obesity and of liver enzyme levels."; 1392; "KoCAS", "Korean Child-Adolescent Cohort Study", "Korean Childhood", "Korean Children-Adolescents Cohort Study"; rdfs:label "Korean Children-Adolescents Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17283 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17285 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17283; "metabolic diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5432839/fullTextXML"; rdfs:comment "The overall objective of the cohort study was to identify early risk factors for obesity and associated metabolic diseases in Korean children." . _:3d052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17285; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5432839/fullTextXML"; rdfs:comment "The overall objective of the cohort study was to identify early risk factors for obesity and associated metabolic diseases in Korean children." . _:3d062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3794088/fullTextXML"; rdfs:comment "This study was performed as a part of the Korean Children-Adolescents Study (KoCAS), which has been monitored yearly since their entry into elementary school at age 7 in Gwacheon City or fourth grade at age 10 in Seoul and Gyeonggi Province, Korea." . _:3d072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24124411"; "Genome-wide association study of liver enzymes in korean children."; "PMID:24124411", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3794088/fullTextXML"; rdfs:comment "This study was performed as a part of the Korean Children-Adolescents Study (KoCAS), which has been monitored yearly since their entry into elementary school at age 7 in Gwacheon City or fourth grade at age 10 in Seoul and Gyeonggi Province, Korea." . _:3d082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open prospective cohort of Korean children, conducted by the Korea National Institute of Health, that enrolled children on entry to elementary school at age 7 (from 2005, at four elementary schools in Gwacheon) or in the fourth grade at age 10 in Seoul and Gyeonggi Province, and followed them annually from 2005 to 2020 to identify early risk factors for obesity and associated metabolic diseases; genotyped subsets were used in genome-wide association studies of childhood obesity and of liver enzyme levels."; "PMID:24124411", "PMID:26729156", "PMID:27623749", "PMID:40723014"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1392; "children enrolled at age 7 who were followed at least once (2005-2020); not a stated total of the whole open cohort"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12293192/fullTextXML"; rdfs:comment "A total of 1392 children were followed at least once after enrollment at age 7." . _:3d0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KoCAS"; . a owl:NamedIndividual, ; , ; ; "PGS005198", "PMID:40691366"; "A genetics programme on obesity and diabetes in Kuwait, supported by the Kuwait Foundation for the Advancement of Sciences, whose participants' genome-wide genotype and body mass index data were contributed to multi-ancestry genome-wide association meta-analyses of body mass index and height."; 1294; "KODGP", "Kuwait Obesity Diabetes Genetic Program"; ; rdfs:label "Kuwait Obesity and Diabetes Genetics Programme"@en . _:3d0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005198"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3d0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "The KODGP gratefully acknowledges the contributions of the participants and of the study staff." . _:3d0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetics programme on obesity and diabetes in Kuwait, supported by the Kuwait Foundation for the Advancement of Sciences, whose participants' genome-wide genotype and body mass index data were contributed to multi-ancestry genome-wide association meta-analyses of body mass index and height."; "PMID:36224396", "PMID:40691366"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1294; "KODGP maximum sample size contributing to the 2025 BMI GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "KODGP | Kuwait Obesity Diabetes Genetic Program | included in multi-ancestry meta-analysis only | 1294" . _:3d0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KODGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17297, _:genid-371333f489424440b12a13b9d98ced822608-genid17299; , , ; "PMID:36789760"; "A hospital-based case-control study of epithelial ovarian cancer and benign epithelial ovarian neoplasms in Korea, which enrolled women with incident, histologically confirmed epithelial ovarian tumours at major general hospitals in Seoul and Gyeonggi-do, and as controls women without ovarian cancer undergoing health screening at general hospitals, collecting standardized interview questionnaires and biological specimens and following up the cases, to study the epidemiological and molecular risk factors and natural history of epithelial ovarian cancer in Koreans."; 246; 345; "Ko-EVE", "Ko-Eve", "Korean epithelial ovarian cancer study"; rdfs:label "Korean Epithelial Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17297 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17297; "benign epithelial ovarian neoplasms"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23098463+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This case-control study covers incident epithelial ovarian cancers and benign neoplasms, four major centers participating in enrolling incident cases and 3 hospitals enrolling healthy controls among health examinees." . _:3d112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17299; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23098463+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This case-control study covers incident epithelial ovarian cancers and benign neoplasms, four major centers participating in enrolling incident cases and 3 hospitals enrolling healthy controls among health examinees." . _:3d122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134271/fullTextXML"; rdfs:comment "In this database, patients with EOC were enrolled from 2008 to 2015 from seven general hospitals located in Seoul and Gyeonggi‐do, Korea, namely Seoul National University Hospital, Samsung Medical Center, Asan Medical Center, National Cancer Center, Gangnam Severance Hospital, Kyung Hee University Hospital at Gangdong, and Cheil General Hospital." . _:3d132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36789760"; "Stratifying the risk of ovarian cancer incidence by histologic subtypes in the Korean Epithelial Ovarian Cancer Study (Ko-EVE)."; "PMID:36789760", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36789760+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this matched case-control study derived from the Korean epithelial ovarian cancer study (Ko-EVE), we calculated the risk of OC subtypes using odds ratios (ORs) and 95% confidence intervals (95% CIs) in a logistic regression model." . _:3d142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of epithelial ovarian cancer and benign epithelial ovarian neoplasms in Korea, which enrolled women with incident, histologically confirmed epithelial ovarian tumours at major general hospitals in Seoul and Gyeonggi-do, and as controls women without ovarian cancer undergoing health screening at general hospitals, collecting standardized interview questionnaires and biological specimens and following up the cases, to study the epidemiological and molecular risk factors and natural history of epithelial ovarian cancer in Koreans."; "PMID:23098463", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10134271/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 246; "Ko-EVE malignant epithelial ovarian cancer cases and healthy controls recruited in 2010-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23098463+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The total number recruited in 2010-2011 was 246 epithelial ovarian cancer cases, 362 benign epithelial tumors and 345 controls." . _:3d162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 345; "Ko-EVE malignant epithelial ovarian cancer cases and healthy controls recruited in 2010-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23098463+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The total number recruited in 2010-2011 was 246 epithelial ovarian cancer cases, 362 benign epithelial tumors and 345 controls." . _:3d172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ko-EVE"; . _:3d182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ko-Eve"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17308, _:genid-371333f489424440b12a13b9d98ced822608-genid17310; , , ; ; "PGS000344", "PMID:32737321"; "A prospective, nationwide study of hereditary breast and ovarian cancer in Korea, established in May 2007, that enrols, at many hospitals across the country, breast cancer patients at high risk of carrying a BRCA1/2 mutation (those with a family history of breast or ovarian cancer, or diagnosed at 40 or younger, with bilateral breast cancer or another BRCA-related primary cancer, or male) and family members of BRCA1/2 mutation carriers, all of whom receive genetic counselling and BRCA testing. Its first phase (2007–2010) estimated the prevalence of BRCA1/2 mutations, and its second (2010–2013) studied the clinical characteristics, prognosis and environmental and genetic modifiers of BRCA-related breast cancer."; 3144; "KOHBRA", "KOHBRA Study", "Korean Hereditary Breast Cancer study"; ; rdfs:label "Korean Hereditary Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17308 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17310 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17308; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3800720/fullTextXML"; rdfs:comment "The following individuals were eligible for inclusion in the KOHBRA Study: 1) patients with breast cancer and a family history of breast or ovarian cancer; 2) patients with breast cancer without a family history of breast or ovarian cancer who were ≤40 years of age at diagnosis, diagnosed with bilateral breast cancer or another primary malignancy related to BRCA mutations, or male; and 3) family members of BRCA1/2 mutation carriers [10]." . _:3d1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17310; "environmental modifiers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3800720/fullTextXML"; rdfs:comment "Between June 2010 and May 2013, the second phase of the KOHBRA Study was conducted to identify the clinicopathological characteristics and prognostic factors of BRCA-related breast cancer and environmental and genetic modifiers of BRCA mutations and to develop a Korean BRCA risk prediction model and nationwide genetic counseling network for HBC in Korea." . _:3d1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3800720/fullTextXML"; rdfs:comment "In May 2007, the Korean Hereditary Breast Cancer (KOHBRA) Study, a large, prospective, nationwide study, was established to acquire evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in the Korean population." . _:3d1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:3d1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32737321"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "We thank all investigators of the KOHBRA (Korean Hereditary Breast Cancer) Study." . _:3d1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, nationwide study of hereditary breast and ovarian cancer in Korea, established in May 2007, that enrols, at many hospitals across the country, breast cancer patients at high risk of carrying a BRCA1/2 mutation (those with a family history of breast or ovarian cancer, or diagnosed at 40 or younger, with bilateral breast cancer or another BRCA-related primary cancer, or male) and family members of BRCA1/2 mutation carriers, all of whom receive genetic counselling and BRCA testing. Its first phase (2007–2010) estimated the prevalence of BRCA1/2 mutations, and its second (2010–2013) studied the clinical characteristics, prognosis and environmental and genetic modifiers of BRCA-related breast cancer."; "PMID:24155753"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3144; "patients and family members at high risk for hereditary breast and ovarian cancer recruited May 2007-April 2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3800720/fullTextXML"; rdfs:comment "The KOHBRA Study recruited 3,144 patients and family members at high risk for HBOC from 40 centers between May 2007 and April 2013 and plans to report the comprehensive prevalence table for BRCA mutations using this larger sample size." . _:3d202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KOHBRA"; . a owl:NamedIndividual, ; , ; ; "PGS004864", "PMID:25583993"; "The ten-year follow-up examination of the KORA S3 survey, conducted in 2004/05, which re-examined participants of the 1994/95 S3 survey, a population-based random sample of residents aged 25–74 of the city of Augsburg and surrounding counties in southern Germany, within the KORA research platform."; 3006; "KORA F3", "MONICA/KORA F3"; ; rdfs:label "Cooperative Health Research in the Region of Augsburg F3"@en . _:3d212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "The third KORA survey (KORA S3, n=3,996) is a population-based sample from the general population of the South-German city of Augsburg and surrounding counties from 1994/1995." . _:3d222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; rdfs:comment "3,006 participants from KORA S3 were reexamined in a 10-year follow- up (KORA F3) in the years 2004/05." . _:3d232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004864"; "Polygenic risk score for predicting weight loss after bariatric surgery."; "PMID:30185664" . _:3d242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25583993"; "DNA methylation of lipid-related genes affects blood lipid levels."; "PMID:25583993", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25583993+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Eight associations were confirmed by replication in the Cooperative Health Research in the Region of Augsburg F3 study (n=499) and in the Invecchiare in Chianti, Aging in the Chianti Area study (n=472)." . _:3d252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The ten-year follow-up examination of the KORA S3 survey, conducted in 2004/05, which re-examined participants of the 1994/95 S3 survey, a population-based random sample of residents aged 25–74 of the city of Augsburg and surrounding counties in southern Germany, within the KORA research platform."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3006; "KORA S3 participants re-examined at the 10-year follow-up in 2004/05"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; rdfs:comment "3,006 participants from KORA S3 were reexamined in a 10-year follow- up (KORA F3) in the years 2004/05." . _:3d272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORA F3"; . _:3d282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONICA/KORA F3"; . a owl:NamedIndividual, ; , ; ; "PGS004864", "PMID:27019061"; "The follow-up examination of the KORA S4 survey, conducted in 2006–2008, which re-examined participants of the 1999–2001 S4 survey, a population-based sample of residents aged 25–74 of the city of Augsburg and two adjacent counties in southern Germany, within the KORA research platform; its participants were examined again seven years later in the FF4 follow-up."; 3080; "KORA F4"; ; rdfs:label "Cooperative Health Research in the Region of Augsburg F4"@en . _:3d292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41483755+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were drawn from 1700 adults (52.3 % women; mean age = 49.6 ± 9.4 years) participating in the KORA F4 study and its 7-year follow-up (FF4) in Augsburg, Germany." . _:3d2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; rdfs:comment "KORA F4 including 3,080 individuals was conducted from 2006-2008 as a follow-up study to KORA S4 (1999-2001)." . _:3d2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004864"; "Polygenic risk score for predicting weight loss after bariatric surgery."; "PMID:30185664" . _:3d2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27019061"; "Association between DNA Methylation in Whole Blood and Measures of Glucose Metabolism: KORA F4 Study."; "PMID:27019061", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27019061+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Therefore, we performed an epigenome-wide association study for measures of glucose metabolism in whole blood samples of the population-based Cooperative Health Research in the Region of Augsburg F4 study using the Illumina HumanMethylation 450 BeadChip." . _:3d2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The follow-up examination of the KORA S4 survey, conducted in 2006–2008, which re-examined participants of the 1999–2001 S4 survey, a population-based sample of residents aged 25–74 of the city of Augsburg and two adjacent counties in southern Germany, within the KORA research platform; its participants were examined again seven years later in the FF4 follow-up."; "PMID:41483755", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3080; "KORA S4 participants re-examined at the follow-up in 2006-2008"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; rdfs:comment "KORA F4 including 3,080 individuals was conducted from 2006-2008 as a follow-up study to KORA S4 (1999-2001)." . _:3d2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORA F4"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17333; , , ; "PMID:24516880"; "A hospital-registered, clinic-based, cross-sectional study of postmenopausal Korean women at Asan Medical Center in Seoul, South Korea, with fractures ascertained by self-report and radiographs, used in genetic studies of osteoporotic fracture."; 101; 1193; "KORAMC", "KorAMC", "Korean osteoporosis study at Asan Medical Center", "Korean osteoporosis study in Asan Medical Center"; rdfs:label "Korean Osteoporosis Study at Asan Medical Center"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17333; "osteoporosis"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4102322/unicode"; rdfs:comment "The Korean osteoporosis study at Asan Medical Center (KorAMC) study is a hospital registered, cross-sectional study of postmenopausal Korean women in Seoul." . _:3d312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6113773/supplementaryFiles"; rdfs:comment "KORAMC de- novo Korean osteoporosis study at Asan Medical Center Cross sectional Korea Seoul East Asian, Korean Clinic based 1397 KorAMC study is a hospital registered, cross sectional study of postmenopausal Korean women" . _:3d322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24516880"; "Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus."; "PMID:24516880", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4102322/unicode"; rdfs:comment "The Korean osteoporosis study at Asan Medical Center (KorAMC) study is a hospital registered, cross-sectional study of postmenopausal Korean women in Seoul." . _:3d332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-registered, clinic-based, cross-sectional study of postmenopausal Korean women at Asan Medical Center in Seoul, South Korea, with fractures ascertained by self-report and radiographs, used in genetic studies of osteoporotic fracture."; "PMID:24516880", "PMID:30158200"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 101; "vertebral fracture cases and non-fracture controls in the GEFOS/GENOMOS vertebral fracture analysis (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4102322/"; rdfs:comment "KorAMC Genant 101 1193 0.08" . _:3d352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1193; "vertebral fracture cases and non-fracture controls in the GEFOS/GENOMOS vertebral fracture analysis (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4102322/"; rdfs:comment "KorAMC Genant 101 1193 0.08" . _:3d362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORAMC"; . _:3d372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KorAMC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17342; ; , ; , ; "PGS004864", "PMID:23563607"; "The third population-based survey of the Augsburg MONICA project, conducted in 1994/95 and continued within the KORA research platform, which examined a random sample of residents aged 25–74 of the city of Augsburg and surrounding counties in southern Germany; its participants were re-examined ten years later in the KORA F3 follow-up (2004/05)."; 4856; "KORA S3", "MONICA/KORA S3", "third MONICA survey"; ; rdfs:label "Cooperative Health Research in the Region of Augsburg S3"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17342 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17342; "cardiovascular disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2764985/"; rdfs:comment "This cross-sectional survey covering the city of Augsburg (Germany) and two adjacent counties was conducted in 1994/95 to estimate the prevalence and distribution of cardiovascular risk factors among individuals aged 25 to 74 years as part of the WHO MONICA study." . _:3d392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf"; rdfs:comment "The KORA S3 study (Cooperative Health Research in the Region of Augsburg) is also known as the third MONICA survey, which was performed 1994-95 in Augsburg, Germany." . _:3d3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004864"; "Polygenic risk score for predicting weight loss after bariatric surgery."; "PMID:30185664" . _:3d3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23563607"; "Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture."; "PMID:23563607", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2606/MediaObjects/41588_2013_BFng2606_MOESM37_ESM.pdf"; rdfs:comment "KORA S3 and S4 - The KORA Augsburg studies were financed by the Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany and supported by grants from the German Federal Ministry of Education and Research (BMBF)." . _:3d3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The third population-based survey of the Augsburg MONICA project, conducted in 1994/95 and continued within the KORA research platform, which examined a random sample of residents aged 25–74 of the city of Augsburg and surrounding counties in southern Germany; its participants were re-examined ten years later in the KORA F3 follow-up (2004/05)."; "PMID:16032513", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4856; "residents aged 25-74 examined in the 1994/95 survey"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; rdfs:comment "The KORA S3 study including 4,856 individuals was conducted in 1994/95." . _:3d3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORA S3"; . _:3d3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONICA/KORA S3"; . a owl:NamedIndividual, ; ; , ; ; "PGS004864", "PMID:23563607"; "A population-based survey of the KORA research platform (the KORA-Survey 2000), conducted from October 1999 to July 2001, which examined residents of German nationality aged 25–74 living in the city of Augsburg and two adjacent counties in southern Germany, identified through the population registration office; its participants were re-examined in the KORA F4 follow-up (2006–2008)."; 4261; "KORA S4", "KORA-Survey 2000"; ; rdfs:label "Cooperative Health Research in the Region of Augsburg S4"@en . _:3d402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2685752/fullTextXML"; rdfs:comment "Both represent independent samples of unrelated subjects from the general population from the Augsburg Area (Southern Germany) recruited in 1994–1995 (S3) and 1999–2001 (S4) (8)." . _:3d412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004864"; "Polygenic risk score for predicting weight loss after bariatric surgery."; "PMID:30185664" . _:3d422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23563607"; "Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture."; "PMID:23563607", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2606/MediaObjects/41588_2013_BFng2606_MOESM37_ESM.pdf"; rdfs:comment "KORA S3 and S4 - The KORA Augsburg studies were financed by the Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany and supported by grants from the German Federal Ministry of Education and Research (BMBF)." . _:3d432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based survey of the KORA research platform (the KORA-Survey 2000), conducted from October 1999 to July 2001, which examined residents of German nationality aged 25–74 living in the city of Augsburg and two adjacent counties in southern Germany, identified through the population registration office; its participants were re-examined in the KORA F4 follow-up (2006–2008)."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-022-32821-z/MediaObjects/41467_2022_32821_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2685752/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4261; "individuals aged 25-74 who took part in the 1999-2001 survey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3554384/fullTextXML"; rdfs:comment "A total of 4,261 individuals between 25 and 74 years of age participated in the S4 survey between 1999 and 2001 (25)." . _:3d452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KORA S4"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17357; , , ; ; "PGS002742", "PMID:30529582"; "A multicentre hospital-based case-control study of colorectal cancer in South Korea, whose cases were colorectal cancer patients admitted to two university hospitals and one general cancer hospital in the Seoul Metropolitan Area between 1995 and 2004, and whose controls were inpatients with non-neoplastic conditions at the same hospitals in the same period; it contributes to the genetic studies of the Asia Colorectal Cancer Consortium."; 849; 673; "Korea-Seoul", "Korea-Seoul Colorectal Cancer Study", "SeCRC", "Seoul CRC Study", "Seoul Study", "The Seoul CRC Study"; ; rdfs:label "Seoul Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17357 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17357; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "Cases were CRC patients who were admitted to two university hospitals and one general cancer hospital in the Seoul Metropolitan Area between 1995 and 2004 12 ." . _:3d472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "This study (Korea-Seoul) is a multicenter case-control study conducted in South Korea 12 ." . _:3d482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002742"; "Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians."; "PMID:35765848" . _:3d492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30529582"; "Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer."; "PMID:30529582", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6441622/"; rdfs:comment "Genotyping for the Shanghai-3 and HCES-CRC samples in Stage 2 was completed using the Illumina OncoArray14, and genotyping for samples from Shanghai-4, Aichi-2, Korea-NCC, Korea-Seoul and HCES2-CRC was completed using the expanded Illumina MEGA." . _:3d4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre hospital-based case-control study of colorectal cancer in South Korea, whose cases were colorectal cancer patients admitted to two university hospitals and one general cancer hospital in the Seoul Metropolitan Area between 1995 and 2004, and whose controls were inpatients with non-neoplastic conditions at the same hospitals in the same period; it contributes to the genetic studies of the Asia Colorectal Cancer Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf", "https://www.nature.com/articles/ng.2985"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 849; "Seoul CRC cases and controls providing blood for stage 4 of the 2014 ACCC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "A total of 849 cases and 673 controls providing a blood sample were included in stage 4 of this project." . _:3d4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 673; "Seoul CRC cases and controls providing blood for stage 4 of the 2014 ACCC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "A total of 849 cases and 673 controls providing a blood sample were included in stage 4 of this project." . _:3d4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Korea-Seoul"; . _:3d4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SeCRC"; . a owl:NamedIndividual, ; , , ; , ; "PGS005202", "PMID:40691366"; "A prospective cohort study of Korean adults attending health screening examinations at Kangbuk Samsung Hospital, South Korea, set up to study the natural history, prognosis and genetic and environmental determinants of a wide range of health traits and diseases, whose participants have consented since 2011 to linkage with national registries of death, cancer and medical use, and some of whom have been genotyped. It is distinct from the hospital's retrospective Kangbuk Samsung Health Study of routinely collected screening data."; 357322; "KSCS"; ; rdfs:label "Kangbuk Samsung Cohort Study"@en . _:3d4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8980739/fullTextXML"; rdfs:comment "The Kangbuk Samsung Cohort Study is a study on South Korean men and women aged at least 18 years who underwent a comprehensive annual or biennial health examination at the Kangbuk Samsung Hospital Total Healthcare Center in Seoul and Suwon, South Korea." . _:3d502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005202"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3d512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "KSCS | Kangbuk Samsung Cohort Study | EAS | 2053" . _:3d522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study of Korean adults attending health screening examinations at Kangbuk Samsung Hospital, South Korea, set up to study the natural history, prognosis and genetic and environmental determinants of a wide range of health traits and diseases, whose participants have consented since 2011 to linkage with national registries of death, cancer and medical use, and some of whom have been genotyped. It is distinct from the hospital's retrospective Kangbuk Samsung Health Study of routinely collected screening data."; "PMID:38320993", "PMID:40348730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-00763-1/MediaObjects/41588_2020_763_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 357322; "Korean adults who underwent health screenings, 2011-2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40348730+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This prospective cohort study used data from the Kangbuk Samsung Cohort Study, which involved 357,322 Korean adults who underwent health screenings from 2011 to 2021." . _:3d542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KSCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17373; , ; ; "PGS000037", "PMID:29273806"; "A case-control study of asthma in adults of Russian origin from Central Russia, run by Kursk State Medical University, whose patients with asthma were recruited at the Department of Pulmonology of Kursk Regional Clinical Hospital in 2003–2004 and compared with controls matched for age and sex; further adult patients with asthma and healthy subjects from the same population were recruited in 2007–2008 for genome-wide association studies of asthma."; 215; 214; 429; "KSMU", "Kursk State Medical University (KSMU) Study"; ; rdfs:label "Kursk State Medical University Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17373 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17373; "asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "KSMU: is a population‐based case‐control study of adult cases of asthma and controls matched for age and sex." . _:3d562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "KSMU: is a population‐based case‐control study of adult cases of asthma and controls matched for age and sex.74,75 A total of 429 unrelated subjects were recruited in this study, (215 patients with asthma and 214 controls).The studysubjects were of Russian origin from Central Russia." . _:3d572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:3d582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "KSMU: is a population‐based case‐control study of adult cases of asthma and controls matched for age and sex.74,75 A total of 429 unrelated subjects were recruited in this study, (215 patients with asthma and 214 controls).The studysubjects were of Russian origin from Central Russia." . _:3d592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of asthma in adults of Russian origin from Central Russia, run by Kursk State Medical University, whose patients with asthma were recruited at the Department of Pulmonology of Kursk Regional Clinical Hospital in 2003–2004 and compared with controls matched for age and sex; further adult patients with asthma and healthy subjects from the same population were recruited in 2007–2008 for genome-wide association studies of asthma."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf", "https://www.nature.com/articles/s41588-017-0014-7"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 215; "unrelated subjects recruited in 2003-2004 (patients with asthma and matched controls)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "A total of 429 unrelated subjects were recruited in this study, (215 patients with asthma and 214 controls)." . _:3d5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 214; "unrelated subjects recruited in 2003-2004 (patients with asthma and matched controls)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "A total of 429 unrelated subjects were recruited in this study, (215 patients with asthma and 214 controls)." . _:3d5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 429; "unrelated subjects recruited in 2003-2004 (patients with asthma and matched controls)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "A total of 429 unrelated subjects were recruited in this study, (215 patients with asthma and 214 controls)." . _:3d5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KSMU"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Karolinska University Hospital (KUH) is an institution: the PGS Catalog cohort id is the Swedish breast cancer replication sample of the deCODE genome-wide association study (Stacey et al. 2007) used for PGS001778, described by the Catalog only by its hospitals. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Karolinska University Hospital"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Katholieke Universiteit Leuven (KULEUVEN) is an institution: the PGS Catalog cohort id is the PRACTICAL consortium’s label for prostate cancer cases recruited at the University Hospital Leuven and healthy controls, a local sample with no study name. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Katholieke Universiteit Leuven"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. University of Kansas Medical Centre (KUMC) is an institution: the PGS Catalog cohort id is the CIMBA study site at the University of Kansas Medical Center, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete University of Kansas Medical Centre"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:42065824"; "A population-based prospective cohort study of the oldest old in the city of Leiden, the Netherlands, which enrolled all inhabitants who turned 85 between September 1997 and September 1999 in the month of their 85th birthday and examined them with interviews and clinical examinations at baseline and yearly for five years, to study health, functioning and well-being in very old age; an earlier survey under the same name studied the prevalence of morbidity in the whole population of Leiden aged 85 and over, living independently or in institutions."; 599; "L85PLUS", "Leiden 85-Plus Study", "Leiden 85-plus study"; rdfs:label "Leiden 85-plus Study"@en . _:3d5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9074345/fullTextXML"; rdfs:comment "Included were all people from Leiden, the Netherlands, who turned 85 between 1 September 1997 and 1 September 1999." . _:3d5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42065824"; "Low genetic risk for coronary artery disease underlies multigenerational longevity and healthy aging."; "PMID:42065824", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42065824+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated this hypothesis in the Leiden Longevity Study, a cohort with data from more than 420 long-lived families in three generations and the Leiden 85-plus study." . _:3d602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort study of the oldest old in the city of Leiden, the Netherlands, which enrolled all inhabitants who turned 85 between September 1997 and September 1999 in the month of their 85th birthday and examined them with interviews and clinical examinations at baseline and yearly for five years, to study health, functioning and well-being in very old age; an earlier survey under the same name studied the prevalence of morbidity in the whole population of Leiden aged 85 and over, living independently or in institutions."; "PMID:15374369", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10732458/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9074345/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 599; "85-year-old inhabitants of Leiden enrolled 1997-1999 (the 1997-99 cohort)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3889888/fullTextXML"; rdfs:comment "Of these, 14 died before enrolment and 92 refused to participate, resulting in a study population of 599 participants (response rate, 87 %)." . _:3d622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "L85PLUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17388; , ; ; "PGS000344", "PMID:27931260"; "A population-based case-control study of incident breast cancer among Asian American women in Los Angeles County, California, whose cases, ascertained through the Los Angeles Cancer Surveillance Program, are Chinese, Japanese or Filipino women aged 25–74 with histologically confirmed primary breast cancer diagnosed between 1996 and 2006, and whose controls were recruited from the neighbourhoods where the cases lived, frequency-matched on specific Asian ethnicity and five-year age group."; 808; 990; "LAABC", "Los Angeles County Asian–American Breast Cancer case–control study"; ; rdfs:label "Los Angeles County Asian-American Breast Cancer Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17388 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17388; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15046-w/MediaObjects/41467_2020_15046_MOESM1_ESM.pdf"; rdfs:comment "The LAABC is a population-based case-control study of incident breast cancer among 185 Asian American women in Los Angeles County." . _:3d642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15046-w/MediaObjects/41467_2020_15046_MOESM1_ESM.pdf"; rdfs:comment "LAABC, USA, iCOGS" . _:3d652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:3d662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27931260"; "Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry."; "PMID:27931260", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5146840/fullTextXML"; rdfs:comment "The LAABC was supported by grants (1RB-0287, 3 PB-0102, 5 PB-0018, 10 PB-0098) from the California Breast Cancer Research Program." . _:3d672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of incident breast cancer among Asian American women in Los Angeles County, California, whose cases, ascertained through the Los Angeles Cancer Surveillance Program, are Chinese, Japanese or Filipino women aged 25–74 with histologically confirmed primary breast cancer diagnosed between 1996 and 2006, and whose controls were recruited from the neighbourhoods where the cases lived, frequency-matched on specific Asian ethnicity and five-year age group."; "PMID:32139696", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15046-w/MediaObjects/41467_2020_15046_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 808; "LAABC cases and controls included in the iCOGS subset of the 2020 Asian PRS evaluation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "LAABC Los Angeles County Asian-AmericanBreast Cancer Case-ControlStudy12 Population-basedcase-control study USA 990 808 53.77 (10.17) 53.91 (10.68) 527 138 143 0 0 990 0 0 808" . _:3d692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 990; "LAABC cases and controls included in the iCOGS subset of the 2020 Asian PRS evaluation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "LAABC Los Angeles County Asian-AmericanBreast Cancer Case-ControlStudy12 Population-basedcase-control study USA 990 808 53.77 (10.17) 53.91 (10.68) 527 138 143 0 0 990 0 0 808" . _:3d6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAABC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17397; , ; , ; "PGS000742", "PMID:31226226"; "A population-based case-control study of aggressive prostate cancer in Los Angeles County, California, run from the University of Southern California, whose cases were identified through the Los Angeles County Cancer Surveillance Program and whose controls, men without prostate cancer frequency-matched to cases on age, were identified by a neighbourhood walk algorithm, with some controls drawn from the Multiethnic Cohort; it includes men of European, Latino and African ancestry."; 320; 331; "LAAPC", "Los Angeles Aggressive Prostate Cancer Study", "University of Southern California – Los Angeles Prostate Cancer Study"; ; rdfs:label "Los Angeles Study of Aggressive Prostate Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17397 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17397; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "Eligible cases (n = 320) were Latinos of any age diagnosed with primary prostate cancer. Controls (n = 331) were Latino men without PrCa diagnosis and were frequency matched with cases on age (±5 years), who were identified via a neighborhood walk algorithm.18" . _:3d6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "LAAPC Los Angeles Study of Aggressive Prostate Cancer California USA Population-based, Case- control" . _:3d6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:3d6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31226226"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "The LAAPC is a population‐based case–control study of aggressive prostate cancer in Los Angeles County.17 Eligible cases (n = 320) were Latinos of any age diagnosed with primary prostate cancer." . _:3d6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of aggressive prostate cancer in Los Angeles County, California, run from the University of Southern California, whose cases were identified through the Los Angeles County Cancer Surveillance Program and whose controls, men without prostate cancer frequency-matched to cases on age, were identified by a neighbourhood walk algorithm, with some controls drawn from the Multiethnic Cohort; it includes men of European, Latino and African ancestry."; "PMID:31226226", "PMID:38014910", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41391-020-00311-2/MediaObjects/41391_2020_311_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 320; "LAAPC Latino cases and controls in the 2019 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "Eligible cases (n = 320) were Latinos of any age diagnosed with primary prostate cancer. Controls (n = 331) were Latino men without PrCa diagnosis and were frequency matched with cases on age (±5 years), who were identified via a neighborhood walk algorithm.18" . _:3d712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 331; "LAAPC Latino cases and controls in the 2019 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "Eligible cases (n = 320) were Latinos of any age diagnosed with primary prostate cancer. Controls (n = 331) were Latino men without PrCa diagnosis and were frequency matched with cases on age (±5 years), who were identified via a neighborhood walk algorithm.18" . _:3d722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAAPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17406; , ; ; "PGS000082", "PMID:19276375"; "Population-based case-control studies of ovarian cancer among women resident in Los Angeles County, California, United States, run at the Keck School of Medicine of the University of Southern California, in which cases with newly diagnosed ovarian cancer were identified through the county's SEER cancer registry (the Cancer Surveillance Program) and controls were recruited from the cases' neighbourhoods and matched on race/ethnicity and age; the studies take part in the Ovarian Cancer Association Consortium under the code USC."; "The acronym USC also denotes University of Southern California Hormone Replacement Therapy Colorectal Cancer Study (COHO:0000766); this term is Los Angeles County Case-Control Studies of Ovarian Cancer."@en; 2380; 2595; "LAC-CCOC", "Los Angeles County Case-Control Study of Ovarian Cancer", "USC"; ; rdfs:label "Los Angeles County Case-Control Studies of Ovarian Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17406 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17406; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "USC (39-41) USA Los Angeles County Case-Control Studies of Ovarian Cancer 1992-2009 Population-based Interview 55.07 (12.41) 2595 (52.2) 2380 (47.8)" . _:3d742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "USC (39-41) USA Los Angeles County Case-Control Studies of Ovarian Cancer 1992-2009 Population-based Interview 55.07 (12.41) 2595 (52.2) 2380 (47.8)" . _:3d752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3d762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19276375"; "Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer."; "PMID:19276375", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2666150/unicode"; rdfs:comment "SEARCH Cambridge (SEA), the Los Angeles County Case-Control Study of Ovarian Cancer (LAC-CCOC, presented here as USC), the University of California at Irvine study (UCI)" . _:3d772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Population-based case-control studies of ovarian cancer among women resident in Los Angeles County, California, United States, run at the Keck School of Medicine of the University of Southern California, in which cases with newly diagnosed ovarian cancer were identified through the county's SEER cancer registry (the Cancer Surveillance Program) and controls were recruited from the cases' neighbourhoods and matched on race/ethnicity and age; the studies take part in the Ovarian Cancer Association Consortium under the code USC."; "PMID:18431743", "PMID:19065661", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3108163/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2380; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "USC (39-41) USA Los Angeles County Case-Control Studies of Ovarian Cancer 1992-2009 Population-based Interview 55.07 (12.41) 2595 (52.2) 2380 (47.8)" . _:3d792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2595; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "USC (39-41) USA Los Angeles County Case-Control Studies of Ovarian Cancer 1992-2009 Population-based Interview 55.07 (12.41) 2595 (52.2) 2380 (47.8)" . _:3d7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LAC-CCOC"; . _:3d7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17416, _:genid-371333f489424440b12a13b9d98ced822608-genid17418; , ; "PGS004896", "PMID:37893052"; "A longitudinal study, started in 2013, of adults in Latvia with type 1 diabetes diagnosed before the age of 40, with insulin treatment started within one year of diagnosis and C-peptide below 0.3 nmol/L, excluding those with chronic kidney disease other than diabetic kidney disease, who are examined, give blood and urine samples and answer questionnaires at baseline and at follow-up visits every three years, to study diabetic kidney disease and the other complications of diabetes. It is part of the InterDiane consortium."; 100; "LatDiane", "LatDiane study", "Latvian diabetic nephropathy study"; ; rdfs:label "Latvian Diabetic Nephropathy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17416 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17418 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17416; "diabetic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10604159/fullTextXML"; rdfs:comment "We performed a cross-sectional study with 100 T1D patients; 27 of them had progressive DKD, defined as an estimated glomerular filtration rate (eGFR) decline ≥3 mL/min/year or increased albuminuria stage, over a mean follow-up time of 5.89 ± 1.73 years." . _:3d7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17418; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10604159/fullTextXML"; rdfs:comment "We performed a cross-sectional study with 100 T1D patients; 27 of them had progressive DKD, defined as an estimated glomerular filtration rate (eGFR) decline ≥3 mL/min/year or increased albuminuria stage, over a mean follow-up time of 5.89 ± 1.73 years." . _:3d7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004896"; "Albuminuria-Related Genetic Biomarkers: Replication and Predictive Evaluation in Individuals with and without Diabetes from the UK Biobank."; "PMID:37446387" . _:3d7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37893052"; "Progression of Diabetic Kidney Disease and Gastrointestinal Symptoms in Patients with Type I Diabetes."; "PMID:37893052", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10604159/fullTextXML"; rdfs:comment "This study is a part of the longitudinal LatDiane study, initiated in 2013 (and participating in the international InterDiane consortium)." . _:3d802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study, started in 2013, of adults in Latvia with type 1 diabetes diagnosed before the age of 40, with insulin treatment started within one year of diagnosis and C-peptide below 0.3 nmol/L, excluding those with chronic kidney disease other than diabetic kidney disease, who are examined, give blood and urine samples and answer questionnaires at baseline and at follow-up visits every three years, to study diabetic kidney disease and the other complications of diabetes. It is part of the InterDiane consortium."; "PMID:35915454", "PMID:37893052", "PMID:39720301"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100; "LatDiane participants in the gastrointestinal-symptom and DKD progression substudy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10604159/fullTextXML"; rdfs:comment "We performed a cross-sectional study with 100 T1D patients; 27 of them had progressive DKD, defined as an estimated glomerular filtration rate (eGFR) decline ≥3 mL/min/year or increased albuminuria stage, over a mean follow-up time of 5.89 ± 1.73 years." . _:3d822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LatDiane"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17425; , ; ; "PGS004241", "PMID:21750109"; "A hospital-based case-control study of bladder cancer in Leeds, England, whose cases were patients of the urology department of St James's University Hospital and whose controls came from the hospital's otolaryngology and ophthalmology departments, recruited from August 2002 to March 2006. It takes part in the International Consortium of Bladder Cancer."; 764; 530; "LBCS"; ; rdfs:label "Leeds Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17425 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17425; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "All patients undergoing cystoscopy or transurethral resection of a bladder tumor who had previously been found, or were subsequently shown, to have urothelial cell carcinoma of the bladder were included." . _:3d842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "LBCS Leeds Bladder Cancer Study 800 771 71 UK: hospital-based (20, 38–40)" . _:3d852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004241"; "Potential utility of risk stratification for multicancer screening with liquid biopsy tests."; "PMID:37087533" . _:3d862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21750109"; "European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene."; "PMID:21750109", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "Details of the Leeds Bladder Cancer Study have been reported previously (31)." . _:3d872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer in Leeds, England, whose cases were patients of the urology department of St James's University Hospital and whose controls came from the hospital's otolaryngology and ophthalmology departments, recruited from August 2002 to March 2006. It takes part in the International Consortium of Bladder Cancer."; "PMID:19706757", "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3d882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 764; "Leeds hospital study after ancestry exclusions in its 2011 cohort description"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "All non-Caucasians were excluded from the study, leaving 764 patients." . _:3d892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 530; "Leeds hospital study after ancestry exclusions in its 2011 cohort description"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "Also, controls were excluded if they had symptoms suggestive of bladder cancer, such as hematuria; 2.8% of the controls were non-Caucasian, leaving 530 Caucasian controls for the study, and 71% of the controls were male." . _:3d8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17434; , , , , , , , , , , , , , , , , , , , , , , ; , , , , , , , , , , , , , , , , , , , , ; "PMID:40212049"; "An international consortium of prospective cohort studies in North America, Europe, Asia and Australia, established in 2010 within the US National Cancer Institute Cohort Consortium, that pools harmonized risk-factor and lung cancer outcome data on the cohorts' participants, and prediagnostic blood samples of lung cancer cases and matched controls for biomarker studies, for research on lung cancer aetiology, risk prediction and early detection."; 2970659; "LC3", "Lung Cancer Consortium"; rdfs:label "Lung Cancer Cohort Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17434 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3d8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17434; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369914/fullTextXML"; rdfs:comment "The Lung Cancer Cohort Consortium (LC3) database includes detailed risk factor and lung cancer outcomes data from 24 prospective cohort studies in North America, Asia, Australia, and Europe" . _:3d8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "EPIC: European Prospective Investigation into Cancer and Nutrition" . _:3d8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "UKBB: UK Biobank" . _:3d8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "HUNT2 & HUNT3: Trøndelag Health Study" . _:3d8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "WHI: Women's Health Initiative" . _:3d902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "NHS: Nurses’ Health Study I and II" . _:3d912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "PLCO: Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial" . _:3d922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "MCCS: Melbourne Collaborative Cohort Study" . _:3d932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "HPFS: Health Professionals Follow-up Study" . _:3d942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "SWHS: Shanghai Women’s Health Study" . _:3d952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "SMHS: Shanghai Men's Health Study" . _:3d962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "VITAL: VITamins And Lifestyle Study" . _:3d972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "ATBC: Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study" . _:3d982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "WHS: Women's Health Study" . _:3d992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "NHS: Nurses’ Health Study I and II" . _:3d9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "SCCS: Southern Community Cohort Study" . _:3d9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "PHS: Physician's Health Study" . _:3d9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "CLUE: Campaign Against Cancer and Heart Disease II" . _:3d9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "SCHS: Singapore Chinese Health Study" . _:3d9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "GS: Generations Study" . _:3d9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "NYUWHS: New York University Women's Health Study" . _:3da02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369914/fullTextXML"; rdfs:comment "We analysed 240 137 participants aged 45–80 years with a current or former smoking history from nine European countries in four prospective cohorts from the pooled database of the Lung Cancer Cohort Consortium: the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (Finland), the Nord-Trøndelag Health Study (Norway), CONSTANCES (France), and the European Prospective Investigation into Cancer and Nutrition (Denmark, Germany, Italy, Spain, Sweden, the Netherlands, and Norway)." . _:3da12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "GCS: Golestan Cohort Study" . _:3da22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "CPS-II: American Cancer Society Cancer Prevention Study-II Nutrition Cohort" . _:3da32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "MCCS Australia 17,651 (43%) 23,812 (57%) 715 (84%) 139 (16%)" . _:3da42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "CSDLH Canada 5731 (52%) 5277 (48%) 293 (82%) 64 (18%)" . _:3da52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "SMHS China 42,805 (70%) 18,664 (30%) 991 (85%) 173 (15%)" . _:3da62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "EPIC Denmark 37,002 (65%) 20,042 (35%) 1398 (94%) 82 (6%)" . _:3da72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "ATBC Finland 29,133 (100%) 0 (0%) 3959 (100%) 0 (0%)" . _:3da82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "EPIC Germany 28,410 (54%) 24,644 (46%) 367 (89%) 46 (11%)" . _:3da92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "Golestan Iran 8655 (17%) 41,377 (83%) 65 (55%) 53 (45%)" . _:3daa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "EPIC Italy 25,158 (53%) 22,382 (47%) 304 (82%) 67 (18%)" . _:3dab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "EPIC The Netherlands 23,957 (61%) 15,013 (39%) 384 (94%) 26 (6%)" . _:3dac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "HUNT Norway 42,137 (55%) 33,869 (45%) 675 (95%) 34 (5%)" . _:3dad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "SCHS Singapore 15,909 (31%) 35,053 (69%) 907 (70%) 393 (30%)" . _:3dae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "EPIC Spain 17,378 (42%) 24,051 (58%) 289 (85%) 52 (15%)" . _:3daf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "EPIC Sweden 27,666 (51%) 26,120 (49%) 709 (89%) 89 (11%)" . _:3db02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "UKB UK 225,673 (45%) 273,369 (55%) 4225 (86%) 675 (14%)" . _:3db12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11985077/"; rdfs:comment "AARP USA 347,443 (64%) 196,436 (36%) 20,201 (93%) 1452 (7%)" . _:3db22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40212049"; "Association between socioeconomic position and lung cancer incidence in 16 countries: a prospective cohort consortium study."; "PMID:40212049", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11985077/fullTextXML"; rdfs:comment "In this international prospective cohort consortium study, we used data from the Lung Cancer Cohort Consortium (LC3), which includes 20 prospective population cohorts from 16 countries in North America, Europe, Asia, and Australia." . _:3db32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of prospective cohort studies in North America, Europe, Asia and Australia, established in 2010 within the US National Cancer Institute Cohort Consortium, that pools harmonized risk-factor and lung cancer outcome data on the cohorts' participants, and prediagnostic blood samples of lung cancer cases and matched controls for biomarker studies, for research on lung cancer aetiology, risk prediction and early detection."; "PMID:36404465", "PMID:36653422", "PMID:39179310", "PMID:40212049"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3db42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2970659; "participants of the 24 cohorts in the LC3 harmonized database, among whom 69,275 developed lung cancer (2022)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9835888/"; rdfs:comment "Total 2,970,659 69,275 7665 (11) 28,618 (42) 31,462 (47)" . _:3db52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LC3"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17478; , ; "PGS000740", "PMID:28604730"; "A population-based case-control study of lung cancer in southeastern, Appalachian Kentucky, United States, run by the Markey Cancer Center and the University of Kentucky with Department of Defense funding, which from January 2012 to September 2014 recruited newly diagnosed cases through the Kentucky Cancer Registry and controls from the same region by random-digit dialling, and collected blood, toenail, urine, water, soil and radon samples, residential GPS mapping and an epidemiologic, occupational and health-history questionnaire, to study the region's very high lung cancer rates."; 520; "KLCRI", "LCRI DoD Lung Cancer Study", "LCRI-DOD"; ; rdfs:label "Kentucky Lung Cancer Research Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17478 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3db62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17478; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Kentucky Lung Cancer Research Initiative is a study conducted by the Markey Cancer Center Cancer Center and the University of Kentucky using a population-based, case- control framework to study the extraordinarily high rates of lung cancer in Southeastern, Appalachian Kentucky." . _:3db72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Kentucky Lung Cancer Research Initiative is a study conducted by the Markey Cancer Center Cancer Center and the University of Kentucky using a population-based, case- control framework to study the extraordinarily high rates of lung cancer in Southeastern, Appalachian Kentucky." . _:3db82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:3db92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Kentucky Lung Cancer Research Initiative is a study conducted by the Markey Cancer Center Cancer Center and the University of Kentucky using a population-based, case- control framework to study the extraordinarily high rates of lung cancer in Southeastern, Appalachian Kentucky." . _:3dba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of lung cancer in southeastern, Appalachian Kentucky, United States, run by the Markey Cancer Center and the University of Kentucky with Department of Defense funding, which from January 2012 to September 2014 recruited newly diagnosed cases through the Kentucky Cancer Registry and controls from the same region by random-digit dialling, and collected blood, toenail, urine, water, soil and radon samples, residential GPS mapping and an epidemiologic, occupational and health-history questionnaire, to study the region's very high lung cancer rates."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3dbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 520; "subjects recruited in Appalachian Kentucky, January 2012 to September 2014"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Study accrual began in January 5, 2012 and completed on September 5, 2014 and 520 subjects were recruited in a 4:1 ratio of controls: cases from Appalachian Kentucky." . _:3dbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KLCRI"; . _:3dbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCRI-DOD"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. LCSC is the lung cancer study from Canada of the Lunenfeld-Tanenbaum Research Institute and the University of Toronto (PMID:26363033), the Toronto lung cancer GWAS COHO holds as COHO:0000936. Replaced by COHO:0000936 (Samuel Lunenfeld Research Institute Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Lung Cancer Study from Canada"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17487; , ; ; "PMID:24880342"; "A hospital-based case–control study of lung cancer in Estonia, whose cases were lung cancer patients enrolled in Estonian hospitals between 2002 and 2006 and whose controls were randomly selected from the population-based cohort of the Estonian Genome Project; genotyped genome-wide with support from the University of Tartu, it was one of the five case–control studies of the IARC lung cancer genome-wide association study and was pooled in the lung cancer meta-analyses of the TRICL consortium."; 109; 874; "LCSE", "lung cancer GWAS from Estonia", "lung cancer study from Estonia"; rdfs:label "Lung Cancer Study from Estonia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17487 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3dbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17487; "lung cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2775843/"; rdfs:comment "the lung cancer study from Estonia, a hospital-based case-control study including lung cancer cases enrolled between 2002 and 2006 in Estonian hospitals and controls randomly selected from the Estonian Genome Project population-based cohort." . _:3dbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2775843/"; rdfs:comment "the lung cancer study from Estonia, a hospital-based case-control study including lung cancer cases enrolled between 2002 and 2006 in Estonian hospitals and controls randomly selected from the Estonian Genome Project population-based cohort." . _:3dc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24880342"; "Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer."; "PMID:24880342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4074058/fullTextXML"; rdfs:comment "The IARC-GWAS2 comprised 3,062 lung cancer cases and 4,455 controls derived from five case-control studies: (i) Carotene and Retinol Efficacy Trial (CARET) cohort38; (ii) The Central Europe multicenter hospital-based case-control39,40; (iii) The hospital-based case-control study from France40; (iv) The hospital based case-control lung cancer study from Estonia41,42; and (v) The population-based HUNT2/Tromsø IV lung cancer studies43." . _:3dc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung cancer in Estonia, whose cases were lung cancer patients enrolled in Estonian hospitals between 2002 and 2006 and whose controls were randomly selected from the population-based cohort of the Estonian Genome Project; genotyped genome-wide with support from the University of Tartu, it was one of the five case–control studies of the IARC lung cancer genome-wide association study and was pooled in the lung cancer meta-analyses of the TRICL consortium."; "PMID:19836008", "PMID:22899653", "PMID:24880342"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3dc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 109; "cases and controls in the lung cancer GWAS analysis of Landi 2009 (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2775843/"; rdfs:comment "Estonia 109 874 Estonia Hospital-based case-control 317K, 370Duo" . _:3dc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 874; "cases and controls in the lung cancer GWAS analysis of Landi 2009 (analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2775843/"; rdfs:comment "Estonia 109 874 Estonia Hospital-based case-control 317K, 370Duo" . _:3dc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LCSE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17495; , ; "PMID:25412286"; "A two-tiered case-control study of Parkinson disease at the Mayo Clinic, Rochester, Minnesota, genotyped genome-wide on a Perlegen platform, whose cases were enrolled prospectively from the clinical practice of the Mayo Clinic's Department of Neurology from June 1996 to May 2004 among residents of Minnesota and the four surrounding states and assessed by a movement-disorders neurologist, and whose controls were unaffected siblings of cases (tier 1) or unrelated population controls matched on sex and age (tier 2), all screened for parkinsonism."; 1550; "LEAPS", "Mayo-Perlegen LEAPS", "Mayo-Perlegen LEAPS (Linked Efforts to Accelerate Parkinson's Solutions) Collaboration", "Mayo-Perlegen Linked Efforts to Accelerate Parkinson's Solutions", "Mayo-Perlegen Linked Efforts to Accelerate Parkinsons Solutions", "USA-LEAPS"; rdfs:label "Mayo-Perlegen Linked Efforts to Accelerate Parkinson's Solutions Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17495 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3dc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17495; "Parkinson disease"; "https://europepmc.org/api/getPdf?pmcid=PMC1271381"; rdfs:comment "We performed a two-tiered, whole-genome association study of Parkinson disease (PD)." . _:3dc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4238979/fullTextXML"; rdfs:comment "The Rochester-US dataset contained individual-level genotype data from the “Mayo-Perlegen Linked Efforts to Accelerate Parkinson's Solutions (LEAPS) Collaboration”" . _:3dc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25412286"; "Lack of replication of the GRIN2A-by-coffee interaction in Parkinson disease."; "PMID:25412286", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4238979/fullTextXML"; rdfs:comment "The Rochester-US dataset contained individual-level genotype data from the “Mayo-Perlegen Linked Efforts to Accelerate Parkinson's Solutions (LEAPS) Collaboration”" . _:3dc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A two-tiered case-control study of Parkinson disease at the Mayo Clinic, Rochester, Minnesota, genotyped genome-wide on a Perlegen platform, whose cases were enrolled prospectively from the clinical practice of the Mayo Clinic's Department of Neurology from June 1996 to May 2004 among residents of Minnesota and the four surrounding states and assessed by a movement-disorders neurologist, and whose controls were unaffected siblings of cases (tier 1) or unrelated population controls matched on sex and age (tier 2), all screened for parkinsonism."; "PMID:16252231", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000048.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3dc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1550; "consented subjects in the dbGaP study (cases, unaffected siblings and unrelated controls)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000048.v1.p1"; rdfs:comment "Study Design: Case-Control Study Type: Case-Control dbGaP estimated ancestry using GRAF-pop Total number of consented subjects: 1550" . _:3dca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LEAPS"; . _:3dcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo-Perlegen LEAPS"; . _:3dcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USA-LEAPS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Leeds is a city: the PGS Catalog cohort id Leeds is a kidney cancer case-control sample listed by city in the renal cell carcinoma genome-wide association study behind PGS000076, PGS000161 and PGS000722, with no study name. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Leeds"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17504; , ; ; "PMID:40101186"; "A hospital-based case-control study of endometrial cancer at the Leuven University Hospital in Belgium, whose cases were white women aged 27–80 diagnosed with endometrial cancer, identified by active surveillance of the hospital's electronic patient files, with clinical data recorded at interview at diagnosis and from pathology reports. In genetic analyses its cases were compared with controls from blood donors of the Leuven Multidisciplinary Breast Centre study, and they were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; 528; "LES", "Leuven Endometrial Study", "Leuven Endometrium Study"; rdfs:label "Leuven Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17504 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3dcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17504; "endometrial cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "Eligible cases, identified by active surveillance of electronic patient files at the Leuven University Hospital, were white women aged 27-80 years diagnosed with endometrial cancer." . _:3dce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "LES | Leuven Endometrial Cancer Study | Belgium; hospital based cases" . _:3dcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40101186"; "A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk."; "PMID:40101186", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "Replication in the Belgian population included 528 cases from the Leuven Endometrial Cancer Study (LES) and 1,266 controls from blood donors of the Leuven Multidisciplinary Breast Centre Study (LMBC)." . _:3dd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of endometrial cancer at the Leuven University Hospital in Belgium, whose cases were white women aged 27–80 diagnosed with endometrial cancer, identified by active surveillance of the hospital's electronic patient files, with clinical data recorded at interview at diagnosis and from pathology reports. In genetic analyses its cases were compared with controls from blood donors of the Leuven Multidisciplinary Breast Centre study, and they were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; "PMID:27135401", "PMID:30093612", "PMID:40101186"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3dd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 528; "LES cases included in the Belgian genetic replication sample"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "Replication in the Belgian population included 528 cases from the Leuven Endometrial Cancer Study (LES) and 1,266 controls from blood donors of the Leuven Multidisciplinary Breast Centre Study (LMBC)." . _:3dd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17511, _:genid-371333f489424440b12a13b9d98ced822608-genid17513; , , ; "PGS001800", "PMID:32649918"; "A randomized clinical trial run at ten clinical centres in the United States and Canada, which between 1986 and 1989 enrolled smokers aged 35-59 with mild-to-moderate airway obstruction and randomized them to a smoking-cessation intervention (with an inhaled bronchodilator or a placebo inhaler) or usual care, to determine whether smoking cessation and bronchodilator treatment reduce the rate of decline of lung function, with long-term follow-up of respiratory symptoms and mortality."; 5887; "LHS", "US Lung Health Study"; ; rdfs:label "Lung Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17511 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17513 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3dd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17511; "cigarette smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2048803+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Lung Health Study is a randomized clinical trial designed to determine whether a smoking intervention program and prescription of an inhaled bronchodilator can reduce the annual rate of decline of FEV1 (FEV1 slope) in cigarette smokers with mild to moderate airflow limitation." . _:3dd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17513; "mild to moderate airflow limitation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2048803+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Lung Health Study is a randomized clinical trial designed to determine whether a smoking intervention program and prescription of an inhaled bronchodilator can reduce the annual rate of decline of FEV1 (FEV1 slope) in cigarette smokers with mild to moderate airflow limitation." . _:3dd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41527371+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The updated analysis excludes 608 participants from the one Canadian clinic and their baseline smoking characteristics differed from the US participants." . _:3dd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41164942+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed data from 5279 participants from the United States from the Lung Health Study." . _:3dd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001800"; "Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts."; "PMID:32649918" . _:3dd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32649918"; "Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts."; "PMID:32649918", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7429152/fullTextXML"; rdfs:comment "Case-control studies included COPDGene (non-Hispanic white and African American participants),23 ECLIPSE,24 NETT25 and Normative Aging Study (NAS),26 SPIROMICS,27, 28 and the Lung Health Study (LHS)." . _:3dd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized clinical trial run at ten clinical centres in the United States and Canada, which between 1986 and 1989 enrolled smokers aged 35-59 with mild-to-moderate airway obstruction and randomized them to a smoking-cessation intervention (with an inhaled bronchodilator or a placebo inhaler) or usual care, to determine whether smoking cessation and bronchodilator treatment reduce the rate of decline of lung function, with long-term follow-up of respiratory symptoms and mortality."; "PMID:2048803", "PMID:41527371"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:3dda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5887; "Lung Health Study cigarette smokers with mild-to-moderate airflow limitation assessed in recruitment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2048803+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "During the recruitment period, spirometry measurements were obtained during three screening visits from 5,887 cigarette smokers 35 to 60 yr of age." . _:3ddb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LHS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The London Health Sciences Centre, London, Ontario, is one of the two hospitals that supplied Canadian hypertrophic cardiomyopathy cases to the GWAS the PGS Catalog records the id in (PMID:33495596), with no study of its own. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete London Health Sciences Center"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17522, _:genid-371333f489424440b12a13b9d98ced822608-genid17524, _:genid-371333f489424440b12a13b9d98ced822608-genid17526, _:genid-371333f489424440b12a13b9d98ced822608-genid17528, _:genid-371333f489424440b12a13b9d98ced822608-genid17530; , ; "PGS000351", "PMID:12206514"; "A federally mandated, population-based case-control study of breast cancer among women living in Nassau and Suffolk counties on Long Island, New York, United States, whose cases were newly diagnosed with a first primary in situ or invasive breast cancer between August 1996 and July 1997; cases and controls were interviewed and gave blood and urine, and long-term residents gave household dust, soil and water samples, to determine whether breast cancer risk is associated with environmental exposures, and the cases were later followed up to study prognosis."; 1508; 1556; "LI", "LIBCSP"; ; rdfs:label "Long Island Breast Cancer Study Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17522 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17524 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17526 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17528 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17530 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ddc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17522; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12206514+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Long Island Breast Cancer Study Project is a federally mandated, population-based case-control study to determine whether breast cancer risk among women in the counties of Nassau and Suffolk, NY, is associated with selected environmental exposures, assessed by blood samples, self-reports, and environmental home samples." . _:3ddd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17524; "organochlorine compounds"; "https://link.springer.com/content/pdf/10.1023/A:1016387020854.pdf"; rdfs:comment "a population-based case-control study undertaken to determine whether the risk of breast cancer among women residing on Long Island is asso- ciated with polycyclic aromatic hydrocarbons (PAH) and organochlorine compounds, such as DDT and polychlorinated biphenyls (PCBs), assessed in blood samples, by self-reports, or in environmental home samples." . _:3dde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17526; "polychlorinated biphenyls"; "https://link.springer.com/content/pdf/10.1023/A:1016387020854.pdf"; rdfs:comment "a population-based case-control study undertaken to determine whether the risk of breast cancer among women residing on Long Island is asso- ciated with polycyclic aromatic hydrocarbons (PAH) and organochlorine compounds, such as DDT and polychlorinated biphenyls (PCBs), assessed in blood samples, by self-reports, or in environmental home samples." . _:3ddf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17528; "DDT"; "https://link.springer.com/content/pdf/10.1023/A:1016387020854.pdf"; rdfs:comment "a population-based case-control study undertaken to determine whether the risk of breast cancer among women residing on Long Island is asso- ciated with polycyclic aromatic hydrocarbons (PAH) and organochlorine compounds, such as DDT and polychlorinated biphenyls (PCBs), assessed in blood samples, by self-reports, or in environmental home samples." . _:3de02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17530; "polycyclic aromatic hydrocarbons"; "https://link.springer.com/content/pdf/10.1023/A:1016387020854.pdf"; rdfs:comment "a population-based case-control study undertaken to determine whether the risk of breast cancer among women residing on Long Island is asso- ciated with polycyclic aromatic hydrocarbons (PAH) and organochlorine compounds, such as DDT and polychlorinated biphenyls (PCBs), assessed in blood samples, by self-reports, or in environmental home samples." . _:3de12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8751127/fullTextXML"; rdfs:comment "Breast cancer cases were women from the Nassau and Suffolk Counties on Long Island, New York with newly diagnosed first primary in situ or invasive breast cancer between 1 August 1996 and 31 July 1997" . _:3de22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000351"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:3de32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12206514"; "The Long Island Breast Cancer Study Project: description of a multi-institutional collaboration to identify environmental risk factors for breast cancer."; "PMID:12206514", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12206514+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Long Island Breast Cancer Study Project is a federally mandated, population-based case-control study to determine whether breast cancer risk among women in the counties of Nassau and Suffolk, NY, is associated with selected environmental exposures, assessed by blood samples, self-reports, and environmental home samples." . _:3de42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A federally mandated, population-based case-control study of breast cancer among women living in Nassau and Suffolk counties on Long Island, New York, United States, whose cases were newly diagnosed with a first primary in situ or invasive breast cancer between August 1996 and July 1997; cases and controls were interviewed and gave blood and urine, and long-term residents gave household dust, soil and water samples, to determine whether breast cancer risk is associated with environmental exposures, and the cases were later followed up to study prognosis."; "PMID:12206514", "PMID:35010632"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3de52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1508; "interviewed breast cancer cases and population controls; no total stated (1996-1997)"; "https://link.springer.com/content/pdf/10.1023/A:1016387020854.pdf"; rdfs:comment "The main questionnaire was completed by 1,508 (82.1%) of eligible case women (n=235 with in situ and 1,273 with invasive breast cancer) and 1,556 (62.7%) of eligible control women (Table 1)." . _:3de62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1556; "interviewed breast cancer cases and population controls; no total stated (1996-1997)"; "https://link.springer.com/content/pdf/10.1023/A:1016387020854.pdf"; rdfs:comment "The main questionnaire was completed by 1,508 (82.1%) of eligible case women (n=235 with in situ and 1,273 with invasive breast cancer) and 1,556 (62.7%) of eligible control women (Table 1)." . _:3de72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LI"; . _:3de82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIBCSP"; . a owl:NamedIndividual, ; , ; ; "PGS000822", "PMID:42675291"; "A population-based prospective longitudinal cohort study of children and adolescents in the city of Leipzig, Germany, run since July 2011 by the Leipzig Research Centre for Civilization Diseases (LIFE) at Leipzig University, made up of a birth cohort recruited in pregnancy, a health cohort and an obesity cohort, whose participants have repeated medical, psychological and sociodemographic assessments and give biological samples from fetal life to adulthood, to monitor normal growth, development and health and to study non-communicable diseases such as childhood obesity, atopy and mental health problems."; 3000; "LIFE Child", "LIFE Child study", "LIFE-Child", "Leipzig Research Centre for Civilization Diseases (LIFE) Child Study"; ; rdfs:label "LIFE Child Study"@en . _:3de92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13410585/fullTextXML"; rdfs:comment "LIFE Child is a pediatric cohort study conducted in the city of Leipzig, Germany." . _:3dea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000822"; "Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria."; "PMID:31511532" . _:3deb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42675291"; "High prevalence of magnesium supplementation during pregnancy: results from the LIFE Child study."; "PMID:42675291", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13529859/fullTextXML"; rdfs:comment "The LIFE Child Study (Leipzig, Germany) recruited pregnant women and collected data in the 24th and 36th week of pregnancy from 2011 to 2019." . _:3dec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective longitudinal cohort study of children and adolescents in the city of Leipzig, Germany, run since July 2011 by the Leipzig Research Centre for Civilization Diseases (LIFE) at Leipzig University, made up of a birth cohort recruited in pregnancy, a health cohort and an obesity cohort, whose participants have repeated medical, psychological and sociodemographic assessments and give biological samples from fetal life to adulthood, to monitor normal growth, development and health and to study non-communicable diseases such as childhood obesity, atopy and mental health problems."; "PMID:28144813", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3533937/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ded2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "children who had taken part by the end of 2015 (stated as a lower bound, 'more than 3000')"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28144813+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Due to the high popularity of the study, more than 3000 children have already participated until the end of 2015, and two-thirds of them participate continuously." . _:3dee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIFE-Child"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , , , , , , , , ; "PGS000906", "PMID:30642433"; "A consortium of population studies, mainly from Europe, Australia and North America and of European or African ancestry, that ran a common protocol relating their genotyped participants' genomes to the survival of those participants' parents, and meta-analysed the results with UK Biobank in a genome-wide association study of human longevity."; 606059; "LifeGen", "LifeGen consortium"; ; rdfs:label "LifeGen Consortium"@en . _:3def2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Atherosclerosis Risk in Communities Study (ARIC_EA) | 2646917" . _:3df02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Cilento Study (CILENTO) | 17476112 , 19550436" . _:3df12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Erasmus Rucphen Family Study (ERF) | 15845033" . _:3df22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Estonian Genome Centre University of Tartu (EGCUT omni) | 19424496" . _:3df32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Health and Retirement Study (HRS_EA) | 24671021" . _:3df42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Netherlands Twin Registry (NTR)" . _:3df52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Nijmegen Biomedical Study (NBS) | 28082374" . _:3df62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Orkney Complex Disease Study (ORCADES HAP300) | 18760389" . _:3df72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Shetland Complex Disease Study (VIKING)" . _:3df82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Jackson Heart Study (JHS ) | 16320381" . _:3df92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Cardiovascular Health Study (CHS_EA) | 1669507" . _:3dfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Generation Scotland: Scottish Family Health Study (GS:SFHS) | 22786799 (GS10K)" . _:3dfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Genetic Epidemiology Network of Arteriopathy (GENOA_EA) | 15121494" . _:3dfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Haelthy Ageing in diverse neighbourhoods across lifespan (HANDLS) | 20828101" . _:3dfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Genetic Study of Atherosclerosis Risk (GeneSTAR_EA) | 17950799" . _:3dfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "ipsych (iPSYCH)" . _:3dff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Women's Genome Health Study (WGHS)" . _:3e002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Cohorte Lausannois (CoLaus) | 18366642" . _:3e012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Prospective Study of Pravastatin in the Elderly at Risk (PROSPER) | 10569329; 12457784; 21977987" . _:3e022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Rotterdam Study (RS1) | 26386597" . _:3e032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Micro-isolates in South Tyrol (MICROS)" . _:3e042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Austrian Stroke Prevention Family Study (ASPS-Fam) | 25443291 25309438" . _:3e052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "BASE-II (BASE-II)" . _:3e062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Rotterdam Study (RS2) | 26386597" . _:3e072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "MRC National Survey of Health and Development (NSHD) | 16204333, 21345808 , 23977022" . _:3e082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Age and Cognitive Performance Research Centre (ACPRC)" . _:3e092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00934-5/MediaObjects/41467_2017_934_MOESM3_ESM.xlsx"; rdfs:comment "Ogliastra Genetic Park (OGP) | 20004756" . _:3e0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000906"; "Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum."; "PMID:33216869" . _:3e0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30642433"; "Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances."; "PMID:30642433", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6333444/fullTextXML"; rdfs:comment "LifeGen – A consortium of 26 population cohorts of European Ancestry, with UK Biobank lives removed." . _:3e0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of population studies, mainly from Europe, Australia and North America and of European or African ancestry, that ran a common protocol relating their genotyped participants' genomes to the survival of those participants' parents, and meta-analysed the results with UK Biobank in a genome-wide association study of human longevity."; "PMID:29030599", "PMID:30642433"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 606059; "parents' lifespans (parents of the genotyped participants) analysed in the 2017 LifeGen genome-wide meta-analysis, UK Biobank included"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5715013/fullTextXML"; rdfs:comment "In total, 606,059 parental lifespans were available for analysis, of which 334,974 were already complete (Table 1)." . _:3e0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LifeGen"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. LIKAR is the Limburg Cancer Registry of Belgium, which is not a study; its only genetic use is as the source of the cases of the Belgian case-control study on bladder cancer risk (PMID:21750109), so the id goes on that study and the registry's name is not carried over. Replaced by COHO:0001547 (Belgian case-control study on bladder cancer risk), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Limburg Cancer Registry"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17578; , ; "PMID:22199011"; "A prospectively designed hospital-based case-control and follow-up study of lower extremity peripheral arterial disease in Linz, Austria, which enrolled consecutively, from April 2000 to April 2002, all patients with symptomatic chronic atherosclerotic peripheral arterial disease admitted to the Konventhospital Barmherzige Brueder Linz, and from 2001 to 2004 controls without atherosclerotic disease admitted to the same hospital for minor health problems, matched by age, sex and diabetes status, to evaluate biomarkers and genetic variants for peripheral arterial disease and the long-term outcome of the patients through the Austrian Mortality Registry."; 487; "LIPAD", "Linz Peripheral Arterial Disease (LIPAD) Study", "Linz Peripheral Arterial Disease study"; rdfs:label "Linz Peripheral Arterial Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17578 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17578; "peripheral arterial disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5054299/fullTextXML"; rdfs:comment "From April 2000 to April 2002 we consecutively enrolled all patients with symptomatic chronic atherosclerotic PAD admitted to a single tertiary care hospital in Austria (Konventhospital Barmherzige Brueder, Linz)." . _:3e102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5054299/fullTextXML"; rdfs:comment "From April 2000 to April 2002 we consecutively enrolled all patients with symptomatic chronic atherosclerotic PAD admitted to a single tertiary care hospital in Austria (Konventhospital Barmherzige Brueder, Linz).3–5 PAD was diagnosed by the vascular surgeon attending during index hospitalization." . _:3e112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22199011"; "Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies."; "PMID:22199011", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3303225/unicode"; rdfs:comment "The replication studies included 5 population-based studies and 3 clinically-based studies including a total of over 16,000 participants: the Bruneck Study (n=786), the Copenhagen City Heart Study (CCHS, n=5,330), the Multi-Ethnic Study of Atherosclerosis (MESA, n=2,611), the National Health and Nutrition Examination Surveys (NHANES 1999–2002, n=2,335), Prevention of Renal and Vascular End-stage disease (PREVEND, n=3,691) cohort, Cardiovascular Disease in Intermittent Claudication (CAVASIC, n=443) Study, Genetic Determinants of Peripheral Arterial Disease (GenePAD, n=850), and the Linz Peripheral Arterial Disease (LIPAD, n=671) Study." . _:3e122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospectively designed hospital-based case-control and follow-up study of lower extremity peripheral arterial disease in Linz, Austria, which enrolled consecutively, from April 2000 to April 2002, all patients with symptomatic chronic atherosclerotic peripheral arterial disease admitted to the Konventhospital Barmherzige Brueder Linz, and from 2001 to 2004 controls without atherosclerotic disease admitted to the same hospital for minor health problems, matched by age, sex and diabetes status, to evaluate biomarkers and genetic variants for peripheral arterial disease and the long-term outcome of the patients through the Austrian Mortality Registry."; "PMID:18325332", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5054299/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5692147/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 487; "consecutive patients with symptomatic lower extremity PAD enrolled April 2000 to April 2002 (the whole LIPAD patient cohort); the matched controls are not counted"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5054299/fullTextXML"; rdfs:comment "The entire LIPAD cohort included 487 consecutive patients with symptomatic lower extremity PAD as described previously." . _:3e142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIPAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17585, _:genid-371333f489424440b12a13b9d98ced822608-genid17587; , ; "PGS004896", "PMID:31537649"; "A study of people with type 1 diabetes at the Lithuanian University of Health Sciences in Kaunas, Lithuania, run with the Finnish Diabetic Nephropathy Study group as the Lithuanian part of the InterDiane project, to identify clinical, genetic and environmental risk factors for the late complications of type 1 diabetes, in particular genes related to diabetic nephropathy."; 200; "LitDiane", "Litdiane"; ; rdfs:label "Lithuanian Diabetic Nephropathy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17585 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17585; "diabetic nephropathy"; "https://www.endocrine-abstracts.org/ea/0081/ea0081ep1182"; rdfs:comment "Study included group 1 of 50 T1DM patients with DN and group 2 of 50 T1DM patients without DN." . _:3e162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17587; "type 1 diabetes"; "https://www.endocrine-abstracts.org/ea/0081/ea0081ep1182"; rdfs:comment "Study included group 1 of 50 T1DM patients with DN and group 2 of 50 T1DM patients without DN." . _:3e172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004896"; "Albuminuria-Related Genetic Biomarkers: Replication and Predictive Evaluation in Individuals with and without Diabetes from the UK Biobank."; "PMID:37446387" . _:3e182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31537649"; "Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen."; "PMID:31537649", "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The Lithuanian Diabetic Nephropathy Study (LitDiane) was initiated in 2013 and is part of the InterDiane Consortium (please see also the InterDiane cohort description)." . _:3e192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of people with type 1 diabetes at the Lithuanian University of Health Sciences in Kaunas, Lithuania, run with the Finnish Diabetic Nephropathy Study group as the Lithuanian part of the InterDiane project, to identify clinical, genetic and environmental risk factors for the late complications of type 1 diabetes, in particular genes related to diabetic nephropathy."; "https://lsmu.lt/en/about-lsmu/structure/medical-academy/faculty-of-medicine/departments/department-of-endocrinology/", "https://lsmu.lt/en/research-and-innovations/research-institutes/institute-of-endocrinology/", "https://www.endocrine-abstracts.org/ea/0081/ea0081ep1182"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "LitDiane protocol participants in the 2015-2016 insulin-resistance study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6965600/fullTextXML"; rdfs:comment "It was a prospective, cross-sectional study that included 200 unselected patients with T1D over the age of 18 years with diabetes duration at least 1 year; patients were men and women with regular menstrual cycle (without signs of pregnancy or menopause stage)." . _:3e1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LitDiane"; . _:3e1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Litdiane"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17595; , ; , ; "PMID:26916295"; "A prospective study of venous thromboembolism occurrence in the United States that pools two multi-center, longitudinal, population-based cohort studies of white and African American men and women, the Atherosclerosis Risk in Communities (ARIC) Study and the Cardiovascular Health Study (CHS)."; 19293; "CHS Longitudinal Investigation of Thromboembolism Etiology Study", "LITE", "longitudinal investigation of thromboembolism etiology"; rdfs:label "Longitudinal Investigation of Thromboembolism Etiology"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17595 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17595; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12020191+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To determine whether atherosclerotic risk factors are also associated with increased incidence of VTE, we conducted a prospective study of 19 293 men and women without previous VTE in 6 US communities between 1987 and 1998." . _:3e1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4769380/"; rdfs:comment "The LITE study is a prospective study of VTE occurrence in 2 pooled, multi-center, longitudinal population-based cohort studies: the ARIC Study [17] and the Cardiovascular Health Study (CHS) [18]." . _:3e1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4769380/"; rdfs:comment "The LITE study is a prospective study of VTE occurrence in 2 pooled, multi-center, longitudinal population-based cohort studies: the ARIC Study [17] and the Cardiovascular Health Study (CHS) [18]." . _:3e202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4769380/unicode"; rdfs:comment "We used the Longitudinal Investigation of Thromboembolism Etiology (LITE), involving two pooled population-based cohorts in the United States including 16,234 participants." . _:3e212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26916295"; "Prospective study of γ' fibrinogen and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE)."; "PMID:26916295", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4769380/unicode"; rdfs:comment "We used the Longitudinal Investigation of Thromboembolism Etiology (LITE), involving two pooled population-based cohorts in the United States including 16,234 participants." . _:3e222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective study of venous thromboembolism occurrence in the United States that pools two multi-center, longitudinal, population-based cohort studies of white and African American men and women, the Atherosclerosis Risk in Communities (ARIC) Study and the Cardiovascular Health Study (CHS)."; "PMID:23650146", "PMID:26916295"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19293; "LITE participants without previous VTE in the original 1987-1998 prospective analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12020191+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To determine whether atherosclerotic risk factors are also associated with increased incidence of VTE, we conducted a prospective study of 19 293 men and women without previous VTE in 6 US communities between 1987 and 1998." . _:3e242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LITE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17604; , , ; "PGS000866", "PMID:29280273"; "A cross-sectional study of adults of European descent who underwent liver biopsy for suspected non-alcoholic steatohepatitis or for severe obesity, consecutively enrolled at the Metabolic Liver Diseases outpatient service and bariatric surgery centre of the Fondazione IRCCS Ca' Granda Ospedale Policlinico in Milan and at Palermo University Hospital, Italy, and in the Northern Savo Hospital District in Kuopio, Finland, excluding people with excess alcohol intake or other causes of liver disease, and used to study the genetics of non-alcoholic fatty liver disease."; "The acronym LBC also denotes Lothian Birth Cohorts (COHO:0000111); this term is Liver Biopsy Cohort."@en; 1515; "LBC", "LiverBC"; ; rdfs:label "Liver Biopsy Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17604 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17604; "non-alcoholic fatty liver disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8803605/fullTextXML"; rdfs:comment "the Liver Biopsy Cohort (LBC; n = 1,951) consisting of individuals at risk for non-alcoholic fatty liver disease (NAFLD) from northern and southern Europe" . _:3e262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5983109/fullTextXML"; rdfs:comment "A total of 1,388 adult individuals of European descent were consecutively enrolled from the Metabolic Liver Diseases outpatient service and bariatric surgery center, Fondazione IRCCS Ca' Granda Ospedale Policlinico Milano, Milan, Italy, and from the Northern Savo Hospital District, Kuopio, Finland." . _:3e272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000866"; "Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver."; "PMID:29280273" . _:3e282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29280273"; "Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver."; "PMID:29280273", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5900872/fullTextXML"; rdfs:comment "To this end, we evaluated complementary cohorts of individuals at risk of progressive NAFLD due to suspected NASH in the Liver Biopsy Cohort (LBC), or to severe obesity in the Swedish Obese Subjects Study (SOS), and individuals from the population‐based Dallas Heart Study (DHS)." . _:3e292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of adults of European descent who underwent liver biopsy for suspected non-alcoholic steatohepatitis or for severe obesity, consecutively enrolled at the Metabolic Liver Diseases outpatient service and bariatric surgery centre of the Fondazione IRCCS Ca' Granda Ospedale Policlinico in Milan and at Palermo University Hospital, Italy, and in the Northern Savo Hospital District in Kuopio, Finland, excluding people with excess alcohol intake or other causes of liver disease, and used to study the genetics of non-alcoholic fatty liver disease."; "PMID:29280273", "PMID:29881818", "PMID:35102341"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1515; "adults of European descent consecutively enrolled at liver biopsy (as of the 2018 report)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5900872/fullTextXML"; rdfs:comment "Briefly, a total of 1515 adult European individuals who underwent liver biopsy for suspected NASH or severe obesity were consecutively enrolled." . _:3e2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LBC"; . _:3e2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LiverBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17613; , ; "PMID:24388013"; "A collection of adults of European ancestry with physician-diagnosed mild, moderate or severe asthma, recruited through the Lung Institute of Western Australia from specialty asthma clinics and hospital databases, together with non-asthmatic controls selected at random from the metropolitan telephone directory, assembled for studies of the genetics of asthma and its severity."; 200; 883; "LIWA", "LIWA cohort", "Lung Institute of Western Australia"; rdfs:label "Lung Institute of Western Australia Asthma Genetic Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17613 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17613; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3972120/fullTextXML"; rdfs:comment "The LIWA cohort included a total of 883 unrelated Caucasians (125 severe, 172 moderate, 386 mild and 200 non-asthmatics) aged between 18 and 85." . _:3e2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24388013"; "Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype."; "PMID:24388013", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4280183/unicode"; rdfs:comment "Cases and control subjects were drawn from 4 studies: the Queensland Institute of Medical Research (n = 921), the Lung Institute of Western Australia (n = 475), the Busselton Health Study (n = 445), and the Tasmanian Longitudinal Health Study (n = 296)." . _:3e2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of adults of European ancestry with physician-diagnosed mild, moderate or severe asthma, recruited through the Lung Institute of Western Australia from specialty asthma clinics and hospital databases, together with non-asthmatic controls selected at random from the metropolitan telephone directory, assembled for studies of the genetics of asthma and its severity."; "PMID:24691493"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "unrelated Caucasians: 125 severe, 172 moderate and 386 mild asthmatics and 200 non-asthmatics"; "PMID:24691493"; rdfs:comment "The LIWA cohort included a total of 883 unrelated Caucasians (125 severe, 172 moderate, 386 mild and 200 non-asthmatics) aged between 18 and 85." . _:3e312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 883; "unrelated Caucasians: 125 severe, 172 moderate and 386 mild asthmatics and 200 non-asthmatics"; "PMID:24691493"; rdfs:comment "The LIWA cohort included a total of 883 unrelated Caucasians (125 severe, 172 moderate, 386 mild and 200 non-asthmatics) aged between 18 and 85." . _:3e322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIWA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17620, _:genid-371333f489424440b12a13b9d98ced822608-genid17622; , ; , ; "PGS000740", "PMID:22899653"; "A molecular epidemiological study of lung cancer in a defined area of Merseyside, England, with a high incidence of lung cancer, made up of a case-control study of newly diagnosed lung cancer cases matched 2:1 on age and sex, and a prospective cohort followed for ten years, to build a lung cancer risk model from epidemiological and molecular genetic risk factors and to find markers of preclinical carcinogenesis for early detection."; 11500; "LLP", "Liverpool Lung Cancer Project", "Liverpool lung cancer study"; ; rdfs:label "Liverpool Lung Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17620 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17622 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17620; "environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12212983+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "1) to prepare a molecular genetic and epidemiological risk assessment model based on environmental exposures and genetic predisposition" . _:3e342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17622; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4356386/fullTextXML"; rdfs:comment "Briefly, the LLP is a population-based case control and cohort study of the early detection of lung cancer in Liverpool, United Kingdom." . _:3e352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC4715236"; rdfs:comment "LLP Hospital-based UK" . _:3e362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:3e372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22899653"; "Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls."; "PMID:22899653", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607485/fullTextXML"; rdfs:comment "The meta-analysis was based on summary data from 16 previously reported lung cancer GWASs undertaken by nine analytical centers providing genotype data on 14 900 lung cancer cases and 29 485 controls of European descent: the MD Anderson Cancer Center lung cancer study (5); cases from the Liverpool Lung Project and control individuals from the UK Blood Service collections (UKBS) (4,67); the UK lung cancer GWAS from the Institute for Cancer Research including lung cancer cases from the Genetic Lung Cancer Predisposition Study (GELCAPS) and controls from the 1958 Birth Cohort (7,68,69); the deCODE Genetics lung cancer study (9); the Helmholtz-Gemeinschaft Deutscher Forschungszentren (HGF) lung" . _:3e382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A molecular epidemiological study of lung cancer in a defined area of Merseyside, England, with a high incidence of lung cancer, made up of a case-control study of newly diagnosed lung cancer cases matched 2:1 on age and sex, and a prospective cohort followed for ten years, to build a lung cancer risk model from epidemiological and molecular genetic risk factors and to find markers of preclinical carcinogenesis for early detection."; "PMID:12212983", "PMID:16273220"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11500; "individuals recruited to the case-control and cohort studies since 1996 (stated as 'over 11,500', a lower bound)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Liverpool Lung Project (LLP) is a case-control and cohort study which has recruited over 11,500 individuals since 1996 from the Liverpool region in the UK." . _:3e3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LLP"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Leuven Multidisciplinary Breast Centre (LMBC) is an institution: the PGS Catalog cohort id is the Breast Cancer Association Consortium study labelled after the centre whose patients it draws on, not a cohort with a name of its own. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Leuven Multidisciplinary Breast Centre"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17630; , ; "PGS000769", "PMID:22792082"; "A randomised, double-blind trial of the American Lung Association Asthma Clinical Research Centers, run at centres in the United States from 2003 to 2006, in which people whose asthma was well controlled on twice-daily low-dose inhaled fluticasone were assigned to continue it or to switch to once-daily montelukast or once-daily fluticasone plus salmeterol for 16 weeks, to test whether treatment could be stepped down without loss of asthma control."; 500; "LOCCS", "Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol trial", "Leukotriene Modifier or Corticosteroid Salmeterol study", "Leukotriene Modifier or Corticosteroid or Corticosteroid-Salmeterol", "Leukotriene Modifier, or Corticosteroid Salmeterol study"; ; rdfs:label "Leukotriene Modifier Or Corticosteroid or Corticosteroid-Salmeterol Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17630 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17630; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17507702+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 500 patients with asthma that was well controlled by inhaled fluticasone (100 microg twice daily) to receive continued fluticasone (100 microg twice daily) (169 patients), montelukast (5 or 10 mg each night) (166 patients), or fluticasone (100 microg) plus salmeterol (50 microg) each night (165 patients)." . _:3e3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3816372/"; rdfs:comment "Institutions at which the work was performed: Baylor College of Medicine, Houston, TX Columbia University-New York University Consortium, New York, NY Duke University Medical Center, Durham, NC Emory University School of Medicine, Atlanta, GA" . _:3e3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000769"; "Pharmacogenetic Polygenic Risk Score for Bronchodilator Response in Children and Adolescents with Asthma: Proof-of-Concept."; "PMID:33923870" . _:3e3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22792082"; "Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene."; "PMID:22792082", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22792082+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study (GWAS) of BDR, quantified as percent change in baseline FEV(1) after administration of a β(2)-agonist, was performed with 1,644 non-Hispanic white asthmatic subjects from six drug clinical trials: CAMP, LOCCS, LODO, a medication trial conducted by Sepracor, CARE, and ACRN." . _:3e3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind trial of the American Lung Association Asthma Clinical Research Centers, run at centres in the United States from 2003 to 2006, in which people whose asthma was well controlled on twice-daily low-dose inhaled fluticasone were assigned to continue it or to switch to once-daily montelukast or once-daily fluticasone plus salmeterol for 16 weeks, to test whether treatment could be stepped down without loss of asthma control."; "PMID:17507702", "PMID:26083242", "https://clinicaltrials.gov/api/v2/studies/NCT00156819"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 500; "patients with well-controlled asthma randomised in the trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17507702+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 500 patients with asthma that was well controlled by inhaled fluticasone (100 microg twice daily) to receive continued fluticasone (100 microg twice daily) (169 patients), montelukast (5 or 10 mg each night) (166 patients), or fluticasone (100 microg) plus salmeterol (50 microg) each night (165 patients)." . _:3e412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LOCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17638; , ; "PGS000769", "PMID:22792082"; "A randomised, double-masked, placebo-controlled trial of the American Lung Association Asthma Clinical Research Centers in which people with poorly controlled asthma were assigned to add once-daily low-dose theophylline, montelukast or placebo to their existing medication and were followed for 24 weeks, to compare the rate of episodes of poor asthma control."; 489; "Effectiveness of Low Dose Theophylline as Add On Therapy for the Treatment of Asthma", "Effectiveness of Low Dose Theophylline as Add-On Therapy in the Treatment of Asthma", "LODO", "LoDo", "LoDo Trial"; ; rdfs:label "Effectiveness of Low Dose Theophylline as an Add-on Treatment in Asthma trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17638; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16998094+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a randomized, double-masked, placebo-controlled trial in 489 participants with poorly controlled asthma randomly assigned to placebo, theophylline (300 mg/d), or montelukast (10 mg/d)." . _:3e432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3816372/"; rdfs:comment "Institutions at which the work was performed: Baylor College of Medicine, Houston, TX Columbia University-New York University Consortium, New York, NY Duke University Medical Center, Durham, NC Emory University School of Medicine, Atlanta, GA" . _:3e442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000769"; "Pharmacogenetic Polygenic Risk Score for Bronchodilator Response in Children and Adolescents with Asthma: Proof-of-Concept."; "PMID:33923870" . _:3e452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22792082"; "Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene."; "PMID:22792082", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22792082+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genome-wide association study (GWAS) of BDR, quantified as percent change in baseline FEV(1) after administration of a β(2)-agonist, was performed with 1,644 non-Hispanic white asthmatic subjects from six drug clinical trials: CAMP, LOCCS, LODO, a medication trial conducted by Sepracor, CARE, and ACRN." . _:3e462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-masked, placebo-controlled trial of the American Lung Association Asthma Clinical Research Centers in which people with poorly controlled asthma were assigned to add once-daily low-dose theophylline, montelukast or placebo to their existing medication and were followed for 24 weeks, to compare the rate of episodes of poor asthma control."; "PMID:16998094", "PMID:26083242", "https://clinicaltrials.gov/api/v2/studies/NCT00046644"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 489; "participants with poorly controlled asthma randomised in the trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16998094+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a randomized, double-masked, placebo-controlled trial in 489 participants with poorly controlled asthma randomly assigned to placebo, theophylline (300 mg/d), or montelukast (10 mg/d)." . _:3e482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LODO"; . _:3e492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LoDo"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17647; , ; "PMID:29036523"; "A Greek study of healthy young male army conscripts, randomly selected and recruited from June 2008 in waves at the Greek Army Training Camp in Heraklion, Crete, within their first two months of service and screened to exclude mental and physical illness, who were assessed on schizophrenia-related intermediate phenotypes (prepulse inhibition of the startle reflex, cognition, personality and schizotypal traits) and gave DNA, to study the genetics of the schizophrenia spectrum."; 1540; "LOGOS", "LOGOS cohort", "LOGOS project", "Learning On Genetics Of Schizophrenia Spectrum", "Learning on Genetics of Schizophrenia", "Learning on Genetics of Schizophrenia Spectrum study"; rdfs:label "Learning on Genetics of Schizophrenia Spectrum"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17647 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17647; "schizophrenia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3138651/"; rdfs:comment "The LOGOS cohort provides a comprehensive endophenotypic assessment of schizophrenia-related intermediate phenotypes in a demographically and genetically homogeneous population of healthy, young, Greek males." . _:3e4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5814832/"; rdfs:comment "The LOGOS acquired the same recruitment procedures as the ASPIS, assessing Caucasian healthy male conscripts (N = 690; mean age: 22.3 ± 3.7) on multiple cognitive and psychometric phenotypes, at the Greek Army Training Camp in Heraklion, Crete, Greece." . _:3e4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29036523"; "Stress-Dependent Association Between Polygenic Risk for Schizophrenia and Schizotypal Traits in Young Army Recruits."; "PMID:29036523", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29036523+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we sought to investigate the contribution of common genetic risk variation for SZ on self-reported schizotypy in 2 ethnically homogeneous cohorts of healthy young males during compulsory military service, enrolled in the Athens Study of Proneness and Incidence of Schizophrenia (ASPIS, N = 875) and the Learning on Genetics of Schizophrenia Spectrum study (LOGOS, N = 690)." . _:3e4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Greek study of healthy young male army conscripts, randomly selected and recruited from June 2008 in waves at the Greek Army Training Camp in Heraklion, Crete, within their first two months of service and screened to exclude mental and physical illness, who were assessed on schizophrenia-related intermediate phenotypes (prepulse inhibition of the startle reflex, cognition, personality and schizotypal traits) and gave DNA, to study the genetics of the schizophrenia spectrum."; "PMID:21471957", "PMID:27336024", "PMID:29036523"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1540; "young male Greek Army conscripts recruited June 2008 to July 2011 (2008-2011)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fmp.2016.244/MediaObjects/41380_2017_BFmp2016244_MOESM471_ESM.docx"; rdfs:comment "The LOGOS project recruited 1540 randomly selected young male conscripts from the Greek Army (mean age 22.13; range 18–44) between June 2008 and July 2011 at the Military Training Camp of Candidate, Supply Army officers (SEAP) in Heraklion, Crete." . _:3e4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LOGOS"; . a owl:NamedIndividual, ; , ; ; "PMID:24997018"; "A longitudinal cohort study at the Institute for Aging Research of the Albert Einstein College of Medicine in the Bronx, New York, which from 2008 enrolled Ashkenazi Jewish adults aged 65 or older from the New York City area without significant cognitive, visual or hearing impairment, comparing offspring of parents with exceptional longevity (at least one parent surviving to 95) with offspring of parents with usual survival, and follows them until death with biomarkers, genotyping, proteomics and cognitive and frailty assessments to study healthy ageing."; 1066; "LonGenity", "LonGenity Study", "LonGenity cohort", "Longenity study"; rdfs:label "LonGenity study"@en . _:3e502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13519853/fullTextXML"; rdfs:comment "From 2008 through 2024, the study enrolled Ashkenazi Jewish individuals from the New York City area, aged 65 years or older, and free of significant cognitive, visual, or hearing impairments." . _:3e512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24997018"; "Association of exceptional parental longevity and physical function in aging."; "PMID:24997018", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24997018+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The LonGenity study recruited a relatively genetically homogenous cohort of Ashkenazi Jewish (AJ) adults age 65 and older, who were defined as either OPEL (having at least one parent who lived to age 95 or older) or OPUS (neither parent survived to age 95)." . _:3e522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort study at the Institute for Aging Research of the Albert Einstein College of Medicine in the Bronx, New York, which from 2008 enrolled Ashkenazi Jewish adults aged 65 or older from the New York City area without significant cognitive, visual or hearing impairment, comparing offspring of parents with exceptional longevity (at least one parent surviving to 95) with offspring of parents with usual survival, and follows them until death with biomarkers, genotyping, proteomics and cognitive and frailty assessments to study healthy ageing."; "PMID:24997018", "PMID:41529745", "PMID:42646838"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1066; "participants enrolled 2008-2024 in all parental-longevity groups of the 2026 analysis (those whose parents died of unnatural causes excluded)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13519853/fullTextXML"; rdfs:comment "The LonGenity total participant count (n = 1066) includes intermediate parental longevity cohorts, which are summarized in eTable 2 in Supplement 1." . _:3e542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LonGenity"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17659, _:genid-371333f489424440b12a13b9d98ced822608-genid17661, _:genid-371333f489424440b12a13b9d98ced822608-genid17663; , ; "PGS005095", "PMID:37494631"; "A randomised clinical trial at 16 centres in the United States that assigned overweight or obese people aged 45 to 76 with type 2 diabetes to an intensive lifestyle intervention for weight loss, through reduced caloric intake and increased physical activity, or to diabetes support and education, with major cardiovascular events as the primary outcome; after the intervention ended, follow-up of the cohort continued as a study of ageing-related outcomes."; 5145; "Look AHEAD"; ; rdfs:label "Action for Health in Diabetes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17659 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17661 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17663 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17659; "type 2 diabetes"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3791615/"; rdfs:comment "We randomly assigned 5,145 overweight or obese individuals with type 2 diabetes recruited at 16 US centers to intensive lifestyle intervention (the intervention group), which promoted weight loss through decreased calorie intake and increased physical activity, or diabetes support and education (the control group)." . _:3e562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17661; "decreased caloric intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14500058+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The intensive lifestyle intervention is designed to achieve and maintain weight loss through decreased caloric intake and increased physical activity." . _:3e572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17663; "increased physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14500058+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The intensive lifestyle intervention is designed to achieve and maintain weight loss through decreased caloric intake and increased physical activity." . _:3e582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3791615/"; rdfs:comment "We randomly assigned 5,145 overweight or obese individuals with type 2 diabetes recruited at 16 US centers to intensive lifestyle intervention (the intervention group), which promoted weight loss through decreased calorie intake and increased physical activity, or diabetes support and education (the control group)." . _:3e592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005095"; "Abdominal Obesity Genetic Variants Predict Waist Circumference Regain After Weight Loss."; "PMID:37494631" . _:3e5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37494631"; "Abdominal Obesity Genetic Variants Predict Waist Circumference Regain After Weight Loss."; "PMID:37494631", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37494631+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined the associations between genetic risk scores for higher BMI and higher waist-to-hip ratio adjusted for BMI (WHRadjBMI) with changes in weight and waist circumference up to 3 years after a 1-year weight loss program in participants (n = 822 women, n = 593 men) from the Look AHEAD (Action for Health in Diabetes) study who had lost ≥3% of their initial weight." . _:3e5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised clinical trial at 16 centres in the United States that assigned overweight or obese people aged 45 to 76 with type 2 diabetes to an intensive lifestyle intervention for weight loss, through reduced caloric intake and increased physical activity, or to diabetes support and education, with major cardiovascular events as the primary outcome; after the intervention ended, follow-up of the cohort continued as a study of ageing-related outcomes."; "PMID:14500058", "PMID:23796131", "PMID:41575388"; "GPT-6 (OpenAI), 2026-09" . _:3e5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5145; "Look AHEAD randomized overweight or obese adults with type 2 diabetes (2004)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3791615/"; rdfs:comment "We randomly assigned 5,145 overweight or obese individuals with type 2 diabetes recruited at 16 US centers to intensive lifestyle intervention (the intervention group), which promoted weight loss through decreased calorie intake and increased physical activity, or diabetes support and education (the control group)." . _:3e5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Look AHEAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17671, _:genid-371333f489424440b12a13b9d98ced822608-genid17673; , ; "PGS004706", "PMID:42086565"; "A Danish randomised clinical trial, Atrial Fibrillation Detected by Continuous ECG Monitoring Using Implantable Loop Recorder to Prevent Stroke in High-Risk Individuals, which randomised 6,004 individuals aged 70 years or older without atrial fibrillation but with risk factors for atrial fibrillation and stroke to screening with an implantable loop recorder, with anticoagulation upon detection of atrial fibrillation, or usual care; its participants’ genetic data are used to evaluate polygenic scores for atrial fibrillation."; 6004; "Atrial Fibrillation Detected by Continuous ECG Monitoring Using Implantable Loop Recorder to Prevent Stroke in High-Risk Individuals", "LOOP"; ; rdfs:label "LOOP study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17671; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13300126/fullTextXML"; rdfs:comment "The LOOP study (Atrial Fibrillation Detected by Continuous ECG Monitoring Using Implantable Loop Recorder to Prevent Stroke in High-Risk Individuals) randomised 6,004 individuals aged 70 years or older without AF but with risk factors for AF and stroke to either screening with ILR or usual care." . _:3e5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17673; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13300126/fullTextXML"; rdfs:comment "The LOOP study (Atrial Fibrillation Detected by Continuous ECG Monitoring Using Implantable Loop Recorder to Prevent Stroke in High-Risk Individuals) randomised 6,004 individuals aged 70 years or older without AF but with risk factors for AF and stroke to either screening with ILR or usual care." . _:3e602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13350093/unicode"; rdfs:comment "We also assessed the Mult-t-EUR score in the LOOP study, a Danish clinical trial assessing implantable loop recorder (ILR) screening in older participants without AF but at elevated cardiovascular risk." . _:3e612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004706"; "Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries."; "PMID:42086565" . _:3e622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42086565"; "Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries."; "PMID:42086565", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC13350093/unicode"; rdfs:comment "We also assessed the Mult-t-EUR score in the LOOP study, a Danish clinical trial assessing implantable loop recorder (ILR) screening in older participants without AF but at elevated cardiovascular risk." . _:3e632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish randomised clinical trial, Atrial Fibrillation Detected by Continuous ECG Monitoring Using Implantable Loop Recorder to Prevent Stroke in High-Risk Individuals, which randomised 6,004 individuals aged 70 years or older without atrial fibrillation but with risk factors for atrial fibrillation and stroke to screening with an implantable loop recorder, with anticoagulation upon detection of atrial fibrillation, or usual care; its participants’ genetic data are used to evaluate polygenic scores for atrial fibrillation."; "PMID:42086565", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13300126/fullTextXML"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:3e642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6004; "participants randomised (1:3 to implantable loop recorder or usual care)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13350093/fullTextXML"; rdfs:comment "LOOP was a randomized clinical trial, including 6004 participants at risk of AF but without diagnosed AF, with 1:3 randomization to screening with an implantable loop recorder (ILR) and anticoagulation upon detection of AF or usual care (Supplementary Note 2)." . _:3e652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LOOP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17681; , ; ; "PMID:28112199"; "The patients of the Leukaemia Research Fund CLL4 trial, a UK randomised phase III trial that between 1999 and 2004 assigned previously untreated patients with chronic lymphocytic leukaemia requiring treatment (Binet stage progressive A, B or C) to first-line chlorambucil, fludarabine, or fludarabine plus cyclophosphamide. Markers measured at trial entry were used to study prognosis, and blood samples from a subset of its patients were genotyped for the UK genome-wide association studies of chronic lymphocytic leukaemia and for studies of germline variants and patient outcome."; 777; "CLL4", "LRCCL-4", "LRF CLL4", "Leukaemia Research CLL-4 trial", "UK Leukemia Research Fund CLL4 trial", "UKCLL4"; rdfs:label "Leukaemia Research Fund CLL4 trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17681; "chronic lymphocytic leukaemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17658394+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "777 patients with chronic lymphocytic leukaemia requiring treatment were randomly assigned to fludarabine (n=194) or fludarabine plus cyclophosphamide (196) for six courses, or chlorambucil (387) for 12 courses." . _:3e672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4832371/fullTextXML"; rdfs:comment "The deaths of LRF CLL4 trial patients still resident in the UK were flagged and reported to the Clinical Trial Service Unit at Oxford." . _:3e682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28112199"; "Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci."; "PMID:28112199", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253627/fullTextXML"; rdfs:comment "The CLL-UK1 GWAS comprised 517 cases: (i) 155 cases (95 male; mean age at diagnosis: 59 years) from ICLLLC; and (ii) 362 cases (269 male; mean age at diagnosis: 63 years) from the Leukaemia Research CLL-4 trial." . _:3e692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The patients of the Leukaemia Research Fund CLL4 trial, a UK randomised phase III trial that between 1999 and 2004 assigned previously untreated patients with chronic lymphocytic leukaemia requiring treatment (Binet stage progressive A, B or C) to first-line chlorambucil, fludarabine, or fludarabine plus cyclophosphamide. Markers measured at trial entry were used to study prognosis, and blood samples from a subset of its patients were genotyped for the UK genome-wide association studies of chronic lymphocytic leukaemia and for studies of germline variants and patient outcome."; "PMID:17658394", "PMID:20511662", "PMID:26457986", "PMID:26964624", "PMID:28112199", "PMID:28165464"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 777; "Patients randomized in the LRF CLL4 trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17658394+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "777 patients with chronic lymphocytic leukaemia requiring treatment were randomly assigned to fludarabine (n=194) or fludarabine plus cyclophosphamide (196) for six courses, or chlorambucil (387) for 12 courses." . _:3e6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLL4"; . _:3e6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LRCCL-4"; . _:3e6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LRF CLL4"; . _:3e6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKCLL4"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Leicester Royal Infirmary (LRI) is an institution, and the PGS Catalog’s metadata tables list no sample for the id. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Leicester Royal Infirmary"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17691, _:genid-371333f489424440b12a13b9d98ced822608-genid17693, _:genid-371333f489424440b12a13b9d98ced822608-genid17695; , ; "PMID:22139380"; "A community-based volunteer cohort of current and former smokers aged 40 to 75 from the greater Albuquerque area of New Mexico, established in 2001 at the Lovelace Respiratory Research Institute to study sputum and blood biomarkers for lung cancer risk and the development of chronic obstructive pulmonary disease, with repeated spirometry and questionnaires and follow-up for lung cancer incidence and death."; 2511; "LSC", "Lovelace Smokers cohort", "Lovelace Smokers' Cohort", "Lovelace smokers cohort"; rdfs:label "Lovelace Smokers Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17691 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17693 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17695 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17691; "COPD"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5669789/fullTextXML"; rdfs:comment "Enrollment in the LSC started in 2001 with the goal to conduct longitudinal studies on biomarkers of respiratory diseases, including COPD and lung cancer in biospecimens from smokers." . _:3e702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17693; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5669789/fullTextXML"; rdfs:comment "Enrollment in the LSC started in 2001 with the goal to conduct longitudinal studies on biomarkers of respiratory diseases, including COPD and lung cancer in biospecimens from smokers." . _:3e712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17695; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5669789/fullTextXML"; rdfs:comment "Enrollment was restricted to current and former smokers aged 40–74 years with a minimum of 10 pack-years of smoking." . _:3e722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10533946/fullTextXML"; rdfs:comment "The LSC recruited 2273 individuals from the Albuquerque area (NM, USA) aged 40–75 years with ≥15 pack-years of smoking from 2001 to 2015." . _:3e732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22139380"; "Genetic determinants for promoter hypermethylation in the lungs of smokers: a candidate gene-based study."; "PMID:22139380", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22139380+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A two-stage approach involving discovery and replication was used to assess the association between promoter hypermethylation of a 12-gene panel and common variation in 40 genes involved in carcinogen metabolism, regulation of methylation, and DNA damage response in members of the Lovelace Smokers Cohort (N = 1,434)." . _:3e742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based volunteer cohort of current and former smokers aged 40 to 75 from the greater Albuquerque area of New Mexico, established in 2001 at the Lovelace Respiratory Research Institute to study sputum and blood biomarkers for lung cancer risk and the development of chronic obstructive pulmonary disease, with repeated spirometry and questionnaires and follow-up for lung cancer incidence and death."; "PMID:29133979", "PMID:36076291", "PMID:37678951"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2511; "unique cohort members with spirometry data by the end of active enrolment in summer 2017 (2001-2017)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9454202/fullTextXML"; rdfs:comment "Active enrollment and on-site follow-up ended in the summer of 2017. Spirometry data were collected from 2511 unique subjects for a total of 11,328 person-visits." . _:3e762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17702; , ; ; "PMID:18433484"; "A German multicentre study of lung cancer diagnosed at the age of 50 or younger, run by the Institute of Epidemiology of the Helmholtz Zentrum München and the Department of Genetic Epidemiology of the University of Göttingen with 31 recruiting clinics across Germany from 2000, which collected a nationwide family sample (young patients with their parents, siblings, children and spouses) and a case–control sample with population controls from the KORA surveys, with epidemiological data on medical history, education, occupation, family history of cancer and smoking, and blood samples from which DNA and lymphoblastoid cell lines were prepared."; 847; "LUCY", "LUCY-study", "LUng Cancer in the Young", "LUng Cancer in the Young study"; rdfs:label "Lung Cancer in the Young study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17702 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17702; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The LUCY-study provides access to a nationwide, population based family and a case-control sample (control population KORA, described below) of lung cancer patients aged 50 years or younger at diagnosis." . _:3e782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "LUCY (LUng Cancer in the Young) is a multicenter study with 31 recruiting hospitals in Germany." . _:3e792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18433484"; "Early onset lung cancer, cigarette smoking and the SNP309 of the murine double minute-2 (MDM2) gene."; "PMID:18433484", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2377274/fullTextXML"; rdfs:comment "472 cases were from the LUCY (LUng Cancer in the Young) study." . _:3e7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German multicentre study of lung cancer diagnosed at the age of 50 or younger, run by the Institute of Epidemiology of the Helmholtz Zentrum München and the Department of Genetic Epidemiology of the University of Göttingen with 31 recruiting clinics across Germany from 2000, which collected a nationwide family sample (young patients with their parents, siblings, children and spouses) and a case–control sample with population controls from the KORA surveys, with epidemiological data on medical history, education, occupation, family history of cancer and smoking, and blood samples from which DNA and lymphoblastoid cell lines were prepared."; "PMID:18433484", "PMID:24704916", "PMID:25644374", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 847; "young lung cancer patients whose phenotype data were collected (their 5524 relatives not counted)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Phenotype data of 847 young patients with primary lung cancer and 5524 relatives have been collected." . _:3e7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LUCY"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. LUHR is the PGS Catalog's id for Landspitali University Hospital, Reykjavik, as a contributing site: the Icelandic BRCA1/BRCA2 carriers it contributed to CIMBA (called ILUH, 'Iceland Landspitali - University Hospital', in CIMBA's own lists; PMID:32665703, 28346442) and the hospital's ovarian cancer material in the deCODE BRIP1 study (PMID:21964575). None of these papers gives the sample a study name or a recruitment of its own beyond the hospital, so it is a site, not a named cohort. Note that the PGS Catalog's own id ILUH is a different thing (Infanta Leonor University Hospital, Madrid), so this is not a duplicate of E535. The Icelandic cohorts COHO already has (deCODE genetics Icelandic cohort COHO:0000428, Icelandic Cancer Registry COHO:0000096) are not this sample. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Landspitali University Hospital, Reykjavik"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Leiden University Medical Center (LUMC) is an institution, and the PGS Catalog’s metadata tables list no sample for the id. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Leiden University Medical Center"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. LW is the Lutherstadt Wittenberg study of the deCODE bladder cancer GWAS (PMID:21750109), the Lutherstadt Wittenberg Bladder Cancer Study. Replaced by COHO:0002024 (Lutherstadt Wittenberg Bladder Cancer Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete The Lutherstadt Wittenberg study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17709; , ; "PMID:20972438"; "A hospital-based case–control study of bladder cancer in Lutherstadt Wittenberg, Germany, whose cases were patients with confirmed bladder cancer enrolled at the Department of Urology of the Paul Gerhardt Foundation from 1995 to 1999 and whose controls were patients of the same department admitted for benign urological diseases and enrolled from 2000 to 2005; occupational history, exposure to occupational bladder carcinogens, smoking and family history of bladder cancer were documented for cases and controls."; 221; 214; "LW", "LWBCS", "Lutherstadt Wittenberg bladder cancer study", "The Lutherstadt Wittenberg study"; rdfs:label "Lutherstadt Wittenberg Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17709 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17709; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "In brief, 221 patients with a confirmed bladder cancer from the Department of Urology, Paul Gerhardt Foundation, Lutherstadt Wittenberg, Germany, were included." . _:3e7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "In brief, 221 patients with a confirmed bladder cancer from the Department of Urology, Paul Gerhardt Foundation, Lutherstadt Wittenberg, Germany, were included." . _:3e7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20972438"; "A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci."; "PMID:20972438", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.687/MediaObjects/41588_2010_BFng687_MOESM14_ESM.pdf"; rdfs:comment "Lutherstadt Wittenberg Bladder Cancer Study (LWBCS) 217 200 Hospital-based case-control, Germany" . _:3e802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of bladder cancer in Lutherstadt Wittenberg, Germany, whose cases were patients with confirmed bladder cancer enrolled at the Department of Urology of the Paul Gerhardt Foundation from 1995 to 1999 and whose controls were patients of the same department admitted for benign urological diseases and enrolled from 2000 to 2005; occupational history, exposure to occupational bladder carcinogens, smoking and family history of bladder cancer were documented for cases and controls."; "PMID:20972438", "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 221; "Lutherstadt Wittenberg cases recruited 1995–1999 and controls recruited 2000–2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "In brief, 221 patients with a confirmed bladder cancer from the Department of Urology, Paul Gerhardt Foundation, Lutherstadt Wittenberg, Germany, were included." . _:3e822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 214; "Lutherstadt Wittenberg cases recruited 1995–1999 and controls recruited 2000–2005"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "A total of 214 controls were from the same Department of Urology, but were admitted for treatment of benign urological diseases." . _:3e832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LW"; . _:3e842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LWBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17718; , ; ; "PGS000344", "PMID:32424353"; "A case-control study of breast cancer in North Macedonia, run by the Research Centre for Genetic Engineering and Biotechnology \"Georgi D. Efremov\" of the Macedonian Academy of Sciences and Arts in Skopje with patients from the University Clinic of Radiotherapy and Oncology and the Acibadem-Sistina and Re-Medika hospitals, that contributes to the Breast Cancer Association Consortium."; 93; 93; "MABCS"; ; rdfs:label "Macedonian Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17718 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17718; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MABCS Macedonian Breast Cancer Study Hospital-based case-control study Macedonia 93 93 93 90 0 0" . _:3e862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MABCS Macedonian Breast Cancer Study Hospital-based case-control study Macedonia 93 93 93 90 0 0" . _:3e872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:3e882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The MABCS study is funded by the Research Centre for Genetic Engineering and Biotechnology \"Georgi D." . _:3e892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer in North Macedonia, run by the Research Centre for Genetic Engineering and Biotechnology \"Georgi D. Efremov\" of the Macedonian Academy of Sciences and Arts in Skopje with patients from the University Clinic of Radiotherapy and Oncology and the Acibadem-Sistina and Re-Medika hospitals, that contributes to the Breast Cancer Association Consortium."; "PMID:32424353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 93; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MABCS Macedonian Breast Cancer Study Hospital-based case-control study Macedonia 93 93 93 90 0 0" . _:3e8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 93; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MABCS Macedonian Breast Cancer Study Hospital-based case-control study Macedonia 93 93 93 90 0 0" . _:3e8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MABCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17727, _:genid-371333f489424440b12a13b9d98ced822608-genid17729; "PGS000004", "PMID:41266372"; "A study of carriers of pathogenic BRCA1 or BRCA2 variants in North Macedonia, run by the Research Centre for Genetic Engineering and Biotechnology \"Georgi D. Efremov\" of the Macedonian Academy of Sciences and Arts with the University Clinic of Radiotherapy and Oncology, Adzibadem-Sistina Hospital and Re-Medika Hospital, which contributes carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "MACBRCA is the CIMBA study of the Research Centre for Genetic Engineering and Biotechnology Georgi D. Efremov of the Macedonian Academy of Sciences and Arts; the PGS Catalog’s name for it, The Ohio State University Comprehensive Cancer Centre, kept as a synonym, repeats a mispairing in CIMBA’s list of studies and their ethics approvals (the Ohio State study is OSUCCG)."@en; "The Ohio State University Comprehensive Cancer Centre"; ; rdfs:label "MACBRCA"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17727 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17729 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17727; "breast cancer" . _:3e8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17729; "ovarian cancer" . _:3e8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:3e902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41266372"; "Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer."; "PMID:41266372", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; rdfs:comment "The MACBRCA study is funded by the Research Centre for Genetic Engineering and Biotechnology (RCGEB) “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts (MASA)." . _:3e912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of carriers of pathogenic BRCA1 or BRCA2 variants in North Macedonia, run by the Research Centre for Genetic Engineering and Biotechnology \"Georgi D. Efremov\" of the Macedonian Academy of Sciences and Arts with the University Clinic of Radiotherapy and Oncology, Adzibadem-Sistina Hospital and Re-Medika Hospital, which contributes carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "PMID:32665703", "PMID:41266372"; "Claude Opus 5.5 (Anthropic), 2026-09" . a owl:NamedIndividual, ; ; "MAFD"; ; rdfs:label "GWA Meta-Analysis on Fat Distribution"@en . _:3e922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAFD"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. MAFEGWAS is the Mexican American family EBNA-1 GWAS of the San Antonio Family Heart Study, replicated in the San Antonio Family Diabetes/Gallbladder Study: the two studies of the San Antonio Family Study. The Catalog's name describes that analysis and is not carried over. Replaced by COHO:0000649 (San Antonio Family Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Mexican-American families EBNA-1 GWAS"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17735; , , ; ; "PGS000037", "PMID:20860503"; "An observational study of children with physician-diagnosed asthma recruited from secondary and tertiary care centres in Germany and Austria for the genetics of childhood asthma, whose cases have been compared in genome-wide association studies with controls from the German arm of the International Study of Asthma and Allergies in Childhood Phase II, and whose participants were re-examined as adolescents and young adults in a follow-up stage, followMAGICS."; 655; "MAGICS", "Multicentre Asthma Genetics in Childhood Study", "followMAGICS"; ; rdfs:label "Multicenter Asthma Genetics in Childhood Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17735 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17735; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8503671/"; rdfs:comment "The followMAGICS study is the follow-up study of the observational Multicenter Asthma Genetics in Childhood Study (MAGICS), which includes physician-diagnosed asthmatic children and young adults (age: 7–25 years)15 recruited from secondary and tertiary centers in Germany and Austria." . _:3e942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8503671/"; rdfs:comment "The followMAGICS study is the follow-up study of the observational Multicenter Asthma Genetics in Childhood Study (MAGICS), which includes physician-diagnosed asthmatic children and young adults (age: 7–25 years)15 recruited from secondary and tertiary centers in Germany and Austria." . _:3e952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:3e962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20860503"; "A large-scale, consortium-based genomewide association study of asthma."; "PMID:20860503", "https://europepmc.org/api/getPdf?pmcid=PMC4260321"; rdfs:comment "Alt Fq denotes alternative allele frequency, CI confidence interval, and Ref reference allele. † The nominal gene was taken from the Illumina SNP database. ‡ Position is based on the number of base pairs from the start of the chromosome. § The rs3771166 SNP was imputed in the MRC Asthma and United Kingdom Control panel (MRCA-UKC) and in the Multicenter Asthma Genetics in Childhood Study (MAGICS) panel." . _:3e972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational study of children with physician-diagnosed asthma recruited from secondary and tertiary care centres in Germany and Austria for the genetics of childhood asthma, whose cases have been compared in genome-wide association studies with controls from the German arm of the International Study of Asthma and Allergies in Childhood Phase II, and whose participants were re-examined as adolescents and young adults in a follow-up stage, followMAGICS."; "PMID:20860503", "PMID:25930191", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8503671/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3e982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 655; "asthmatic children from MAGICS in the case-control dataset of the first asthma GWAS, reused by GABRIEL and TAGC (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "MAGICS consists of 655 asthmatic children (asthma diagnosed by a pulmonologist) were derived from the Multicenter Asthma Genetics In Childhood Study with a further 73 asthmatics and 694 unaffected individuals (randomly selected) from Phase One of the International Study of Asthma and Allergy in Childhood (ISAAC)78,79 ." . _:3e992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAGICS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The PGS Catalog id has no score, development sample or evaluation sample set in the Catalog today (REST /cohort/MAHI and the full cohort list return nothing; it appears only in the Catalog's cohort table), so the paper that gave rise to it cannot be identified from the Catalog. MAHI is the Mid-America Heart Institute (Saint Luke's Health System, Kansas City), a cardiovascular hospital (E660.14). The PGS Catalog records no sample for the id. Where the name labels a genetic study sample (MIGen, PMID:19198609), it is a case-control set assembled at the institute: acute coronary syndrome survivors drawn from the institute's 'successive prospective cohort studies' plus outpatient controls, with no study name of its own. The underlying outcome registries have their own names in their own papers, but nothing ties the PGS id to any one of them, so the id denotes the site, not a named cohort. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Mid-America Heart Institute"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17743, _:genid-371333f489424440b12a13b9d98ced822608-genid17745; , ; ; "PGS000082", "PMID:17342202"; "A Danish population-based case-control study of the Danish Cancer Society, in which women aged 35 to 79 diagnosed in 1994 to 1999 with ovarian cancer or a borderline ovarian tumour in the municipalities of Copenhagen and Frederiksberg and the surrounding counties, and controls drawn at random from the female population of the same area through the Central Population Register, gave questionnaire data, blood and tumour tissue, to identify risk factors and prognostic factors for ovarian cancer."; 681; "Danish MALOVA ovarian cancer study", "Danish MALOVA study", "Danish Malignant Ovarian Cancer Study", "Danish Malignant Ovarian Tumor Study", "MAL", "MALOVA", "MALOVA Ovarian Cancer Case-Control Study", "MALignant OVArian cancer study", "MaOCS"; ; rdfs:label "Malignant Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17745 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3e9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17743; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2645422/fullTextXML"; rdfs:comment "Briefly, preoperative blood samples and tumor tissue samples were obtained from the majority of the 681 OC patients and from the 235 women with borderline ovarian tumor were included in the MALOVA study." . _:3e9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17745; "borderline ovarian tumor"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2645422/fullTextXML"; rdfs:comment "Briefly, preoperative blood samples and tumor tissue samples were obtained from the majority of the 681 OC patients and from the 235 women with borderline ovarian tumor were included in the MALOVA study." . _:3e9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "The Danish Malignant Ovarian Tumour Study MALOVA MAL Denmark" . _:3e9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3e9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17342202"; "Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer."; "PMID:17342202", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1800910/fullTextXML"; rdfs:comment "Ovarian cancer cases and controls from three different studies were used: the SEARCH ovarian cancer study from the United Kingdom, the MALOVA study from Denmark, and the FROC study from the USA." . _:3e9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Danish population-based case-control study of the Danish Cancer Society, in which women aged 35 to 79 diagnosed in 1994 to 1999 with ovarian cancer or a borderline ovarian tumour in the municipalities of Copenhagen and Frederiksberg and the surrounding counties, and controls drawn at random from the female population of the same area through the Central Population Register, gave questionnaire data, blood and tumour tissue, to identify risk factors and prognostic factors for ovarian cancer."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2361465/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2645422/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3108970/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ea02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 681; "MALOVA ovarian cancer patients; excludes the separately reported 235 borderline tumour patients"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2645422/fullTextXML"; rdfs:comment "Briefly, preoperative blood samples and tumor tissue samples were obtained from the majority of the 681 OC patients and from the 235 women with borderline ovarian tumor were included in the MALOVA study." . _:3ea12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAL"; . _:3ea22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MALOVA"; . _:3ea32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MaOCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. MaOCS, the Malignant Ovarian Cancer Study, is the Danish MALOVA study, as the Ovarian Cancer Association Consortium's study tables expand it (PMID:23339562). Replaced by COHO:0002031 (Danish Malignant Ovarian Tumor Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Malignant Ovarian Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17755; , ; "PGS000334", "PMID:32968074"; "A longitudinal cohort of non-demented, community-dwelling people aged 70 to 90, recruited by random approach from the electoral roll in two areas of Sydney, Australia, and begun in 2005 to examine the clinical characteristics and prevalence of mild cognitive impairment and related syndromes and the rate of change in cognitive function over time, with annual telephone reviews and periodic detailed neuropsychiatric and medical assessments."; "The acronym MAS also denotes German Multicenter Allergy Study (COHO:0001178) and Malaysian Ovarian Cancer Genetic Study (COHO:0002103); this term is Sydney Memory and Ageing Study."@en; 1037; "MAS", "Sydney MAS"; ; rdfs:label "Sydney Memory and Ageing Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17755 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ea42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17755; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20637138+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Sydney Memory and Ageing Study (Sydney MAS) was initiated in 2005 to examine the clinical characteristics and prevalence of mild cognitive impairment (MCI) and related syndromes, and to determine the rate of change in cognitive function over time." . _:3ea52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21491632+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Sydney Memory and Ageing Study, Australia." . _:3ea62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000334"; "Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture."; "PMID:32968074" . _:3ea72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32968074"; "Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture."; "PMID:32968074", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7511365/fullTextXML"; rdfs:comment "We evaluated the performance of GRSfull using samples from the Australian Imaging, Biomarker & Lifestyle Study (AIBL, 216 cases and 631 controls), the Sydney Memory and Ageing study (Sydney MAS, 77 cases and 588 controls) and the UKB (383 cases and 1915 controls) (Table 1)." . _:3ea82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of non-demented, community-dwelling people aged 70 to 90, recruited by random approach from the electoral roll in two areas of Sydney, Australia, and begun in 2005 to examine the clinical characteristics and prevalence of mild cognitive impairment and related syndromes and the rate of change in cognitive function over time, with annual telephone reviews and periodic detailed neuropsychiatric and medical assessments."; "PMID:20637138"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ea92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1037; "non-demented community-dwelling people aged 70-90 recruited at baseline (2005)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20637138+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Non-demented community-dwelling individuals (N = 1037) aged 70-90 were recruited from two areas of Sydney, following a random approach to 8914 individuals on the electoral roll." . _:3eaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAS"; . a owl:NamedIndividual, ; ; , ; "PMID:10920470"; "A population-based registry of twins and their families, primarily born or living in Virginia, North Carolina and South Carolina and ascertained mainly from birth records (and formerly school records), formed in 1997 by merging the Virginia Twin Registry (established around 1975) with the North Carolina Twin Registry, with South Carolina added in 1998; based at Virginia Commonwealth University, it recruits its twins into research studies, collects data and DNA, and keeps a DNA repository."; 60000; "MATR", "Mid Atlantic Twin Registry", "Mid-Atlantic Twin Registry of Virginia Commonwealth University"; rdfs:label "Mid-Atlantic Twin Registry"@en . _:3eab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12537875+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Mid-Atlantic Twin Registry (MATR) is a population-based registry of twin pairs ascertained from birth records and school system records of Virginia, North Carolina, and South Carolina." . _:3eac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:10920470"; "Sex-specific genetic influences on the comorbidity of alcoholism and major depression in a population-based sample of US twins."; "PMID:10920470", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10920470+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Lifetime major depression (MD), alcohol abuse, and alcohol dependence were assessed by structured interview for both members of 3755 twin pairs from the Mid-Atlantic Twin Registry." . _:3ead2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based registry of twins and their families, primarily born or living in Virginia, North Carolina and South Carolina and ascertained mainly from birth records (and formerly school records), formed in 1997 by merging the Virginia Twin Registry (established around 1975) with the North Carolina Twin Registry, with South Carolina added in 1998; based at Virginia Commonwealth University, it recruits its twins into research studies, collects data and DNA, and keeps a DNA repository."; "PMID:12537875", "PMID:23218199", "PMID:31608855"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3eae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60000; "twins registered in the registry by 2019 (stated as a lower bound, 'more than 60,000')"; "https://doi.org/10.1017/thg.2019.87"; rdfs:comment "The Mid-Atlantic Twin Registry (MATR) is a population-based registry of more than 60,000 twins primarily born or living in Virginia, North Carolina and South Carolina." . _:3eaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MATR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17768; , , ; "PMID:21874001"; "A type 2 diabetes case-control sample of adults of self-reported South Asian ancestry in Mauritius, drawn from a population-based survey of people aged 20 years and older undertaken in 1998, one of the national surveys of 1987, 1992 and 1998 that included a 2-hour 75-g oral glucose tolerance test."; 780; 1536; "Mauritius", "Mauritius Study"; rdfs:label "Mauritius study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17768 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3eb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17768; "type 2 diabetes"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3773920/unicode"; rdfs:comment "Replication testing amongst South Asians was carried out amongst 13,170 T2D cases and 25,398 controls participants from the following studies: the Chennai Urban Rural Epidemiology Study (CURES) the COBRA study the Diabetes Genetics in Pakistan (DGP) and UK Asian Diabetes Study (UKADS), the Mauritius study, the Ragama Health Study (RHS), the Sikh Diabetes Study (SDS), the Singapore Consortium of Cohort Studies (SCCS), the Sri Lankan Diabetes Study (SLDS), and the LOLIPOP and PROMIS studies." . _:3eb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15606693+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Population-based surveys were undertaken in the multiethnic nation of Mauritius in 1987, 1992 and 1998, with 5083, 6616, and 6291 participants, respectively." . _:3eb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21874001"; "Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci."; "PMID:21874001", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3773920/unicode"; rdfs:comment "Replication testing amongst South Asians was carried out amongst 13,170 T2D cases and 25,398 controls participants from the following studies: the Chennai Urban Rural Epidemiology Study (CURES) the COBRA study the Diabetes Genetics in Pakistan (DGP) and UK Asian Diabetes Study (UKADS), the Mauritius study, the Ragama Health Study (RHS), the Sikh Diabetes Study (SDS), the Singapore Consortium of Cohort Studies (SCCS), the Sri Lankan Diabetes Study (SLDS), and the LOLIPOP and PROMIS studies." . _:3eb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control sample of adults of self-reported South Asian ancestry in Mauritius, drawn from a population-based survey of people aged 20 years and older undertaken in 1998, one of the national surveys of 1987, 1992 and 1998 that included a 2-hour 75-g oral glucose tolerance test."; "PMID:15606693", "PMID:21874001", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3eb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 780; "type 2 diabetes cases and controls of self-reported South Asian ancestry from the 1998 Mauritius survey, genotyped for the replication stage of PMID:21874001"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; rdfs:comment "Mauritius study Mauritius Kaspar Cases 780 47.2 54.9 (11.5) 26.2 (4.4) 9.7(3.5) NA Controls 1536 43.8 46.3 (11.4) 24.3 (4.2) 5.2 (0.4) NA" . _:3eb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1536; "type 2 diabetes cases and controls of self-reported South Asian ancestry from the 1998 Mauritius survey, genotyped for the replication stage of PMID:21874001"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; rdfs:comment "Mauritius study Mauritius Kaspar Cases 780 47.2 54.9 (11.5) 26.2 (4.4) 9.7(3.5) NA Controls 1536 43.8 46.3 (11.4) 24.3 (4.2) 5.2 (0.4) NA" . _:3eb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mauritius"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17776; , ; "PGS000740", "PMID:26363033"; "A case-control sample of lung cancer patients who had never smoked, identified and recruited at Mayo Clinic, Rochester, Minnesota, between 1997 and 2008, and never-smoking community residents matched to them by age, sex and ethnic background, genotyped for a genome-wide association study of lung cancer in never smokers."; 754; "MAYOLC", "Mayo genome-wide association study"; ; rdfs:label "Mayo lung cancer GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17776 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3eb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17776; "lung cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2945218/unicode"; rdfs:comment "In the Mayo genome-wide association study, patients with lung cancer who were classed as never smokers were identified and recruited between January, 1997, and September, 2008." . _:3eb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20304703%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "First, a genome-wide association study of single nucleotide polymorphisms (SNPs) was done with 754 never smokers (377 matched case-control pairs at Mayo Clinic, Rochester, MN, USA)." . _:3eb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:3eba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26363033"; "Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia."; "PMID:26363033", "https://europepmc.org/api/getPdf?pmcid=PMC4635669"; rdfs:comment "cancer study (21); the Helmholtz-Gemeinschaft Deutscher Forschungszentren lung cancer GWAS (22); the lung cancer study from Canada (Lunenfeld- Tanenbaum Research Institute (LTRI) and University of Toronto) (23); the Harvard lung cancer study (24); NCI lung cancer GWAS including the Environment and Genetics in Lung Cancer Etiology (EAGLE) GWAS (25), the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (ATBC) GWAS (26), the Prostate, Lung, Colon, Ovary Screening Trial (PLCO) (27), lung cancer GWAS and the Cancer Prevention Study II Nutrition Cohort (CPS-II) GWAS (28); the IARC lung cancer GWAS (29); the Memorial Sloan Kettering Lung Cancer GWAS (30) and the Mayo lung cancer GWAS (31)." . _:3ebb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of lung cancer patients who had never smoked, identified and recruited at Mayo Clinic, Rochester, Minnesota, between 1997 and 2008, and never-smoking community residents matched to them by age, sex and ethnic background, genotyped for a genome-wide association study of lung cancer in never smokers."; "PMID:20304703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ebc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 754; "never smokers in 377 matched lung cancer case-control pairs genotyped in the GWAS (2010)"; "PMID:20304703"; rdfs:comment "First, a genome-wide association study of single nucleotide polymorphisms (SNPs) was done with 754 never smokers (377 matched case-control pairs at Mayo Clinic, Rochester, MN, USA)." . _:3ebd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYOLC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17784; , ; "PMID:30648747"; "A study of postmenopausal women with resected early-stage oestrogen receptor-positive breast cancer, recruited at Mayo Clinic, MD Anderson Cancer Center and Memorial Sloan Kettering Cancer Center under the NIGMS-funded Pharmacogenomics Research Network, who were treated with adjuvant anastrozole 1 mg daily and had blood drawn before and during therapy for DNA and for plasma drug and hormone measurements, set up to study genetic variation in response to aromatase inhibitors."; 687; "M3", "M3 study", "Mayo Pharmacogenetics Research Network Aromatase Inhibitor AI Study", "Mayo-MDA-MSK", "Mayo-MDA-MSK PGRN AI pharmacogenomic trial", "Mayo_PGRN", "PGRN Aromatase Inhibitor Pharmacogenomics Trial"; rdfs:label "Mayo Clinic-MD Anderson-Memorial Sloan Kettering Pharmacogenomics Research Network Breast Cancer Aromatase Inhibitor Pharmacogenomics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ebe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17784; "ER+ breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6612579/fullTextXML"; rdfs:comment "Postmenopausal patients with resected early stage ER+ breast cancer were recruited from the Mayo Clinic, MD Anderson Cancer Center, and Memorial Sloan Kettering Cancer Center as part of the National Institute of General Medical Sciences–funded PGRN Aromatase Inhibitor Pharmacogenomics Trial (Mayo‐MDA‐MSK)." . _:3ebf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6612579/fullTextXML"; rdfs:comment "Postmenopausal patients with resected early stage ER+ breast cancer were recruited from the Mayo Clinic, MD Anderson Cancer Center, and Memorial Sloan Kettering Cancer Center as part of the National Institute of General Medical Sciences–funded PGRN Aromatase Inhibitor Pharmacogenomics Trial (Mayo‐MDA‐MSK)." . _:3ec02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30648747"; "Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2."; "PMID:30648747", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6612579/fullTextXML"; rdfs:comment "To test that hypothesis, we performed a genome‐wide association study (GWAS) of plasma anastrozole concentrations in 687 postmenopausal patients with ER+ breast cancer enrolled in the Mayo Clinic‐MD Anderson‐Memorial Sloan Kettering (Mayo‐MDA‐MSK) Pharmacogenomics Research Network (PGRN) Breast Cancer Aromatase Inhibitor Pharmacogenomics study." . _:3ec12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of postmenopausal women with resected early-stage oestrogen receptor-positive breast cancer, recruited at Mayo Clinic, MD Anderson Cancer Center and Memorial Sloan Kettering Cancer Center under the NIGMS-funded Pharmacogenomics Research Network, who were treated with adjuvant anastrozole 1 mg daily and had blood drawn before and during therapy for DNA and for plasma drug and hormone measurements, set up to study genetic variation in response to aromatase inhibitors."; "PMID:20354183", "PMID:30648747"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ec22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 687; "women in the plasma anastrozole GWAS (analysed subset of those enrolled), 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6612579/fullTextXML"; rdfs:comment "To test that hypothesis, we performed a genome‐wide association study (GWAS) of plasma anastrozole concentrations in 687 postmenopausal patients with ER+ breast cancer enrolled in the Mayo Clinic‐MD Anderson‐Memorial Sloan Kettering (Mayo‐MDA‐MSK) Pharmacogenomics Research Network (PGRN) Breast Cancer Aromatase Inhibitor Pharmacogenomics study." . _:3ec32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "M3"; . _:3ec42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo-MDA-MSK"; . _:3ec52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Mayo_PGRN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17793; , ; ; "PGS001778", "PMID:32424353"; "A case-control study of breast cancer in Milan, Italy, whose cases are patients with familial or early-onset breast cancer who test negative for BRCA1 and BRCA2 mutations, ascertained from 2000 at two large cancer centres in Milan, and whose controls are female blood donors recruited at two Milan centres from 2004 and 2007; it is one of the studies of the Breast Cancer Association Consortium."; 817; 387; "MBCSG"; ; rdfs:label "Milan Breast Cancer Study Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ec62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17793; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "MBCSG Milan Breast Cancer Study Group 27 Italy Familial and/or early onset breast cancer patients (aged 22-87) negative for mutations in BRCA1 and BRCA2, ascertained at two large cancer centers in Milan from 2000-present Female blood donors recruited at two centres in Milan from 2004-present and 2007-present" . _:3ec72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "MBCSG Milan Breast Cancer Study Group 27 Italy Familial and/or early onset breast cancer patients (aged 22-87) negative for mutations in BRCA1 and BRCA2, ascertained at two large cancer centers in Milan from 2000-present Female blood donors recruited at two centres in Milan from 2004-present and 2007-present" . _:3ec82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:3ec92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "MBCSG (Milan Breast Cancer Study Group): Irene Feroce, Aliana Guerrieri Gonzaga, Monica Marabelli and and the personnel of the Cogentech Cancer Genetic Test Laboratory." . _:3eca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of breast cancer in Milan, Italy, whose cases are patients with familial or early-onset breast cancer who test negative for BRCA1 and BRCA2 mutations, ascertained from 2000 at two large cancer centres in Milan, and whose controls are female blood donors recruited at two Milan centres from 2004 and 2007; it is one of the studies of the Breast Cancer Association Consortium."; "PMID:22267197", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ecb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 817; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MBCSG Milan Breast Cancer Study Group129,130 Clinic-based recruitment of familial/early onset breast cancer cases ; population-based controls Italy 387 817 366 788 0 0" . _:3ecc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 387; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MBCSG Milan Breast Cancer Study Group129,130 Clinic-based recruitment of familial/early onset breast cancer cases ; population-based controls Italy 387 817 366 788 0 0" . _:3ecd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MBCSG"; . a owl:NamedIndividual; , ; rdfs:comment "Obsoleted 2026-09-24. Mexico City (MC) is a city, and the PGS Catalog cohort id MC denotes the Mexico City type 2 diabetes samples that the GIANT body mass index study it is recorded for (Smit et al. 2025, PMID:40691366) acknowledges as Mexico City 1 and Mexico City 2 (MC1 & MC2), which are Mexico City sample 1 (COHO:0000738) and Mexico City sample 2 (COHO:0000737); both carry the names MC and Mexico City. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Mexico City"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17802; , ; "PMID:25420145"; "A collection of patients with cervical artery dissection at the University of Münster, Germany, one of the centres collaborating with the CADISP consortium that recruited patients of European origin, applying the inclusion criteria of the CADISP study, for the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection."; "MCADC", "Muenster cervical artery dissection collection"; rdfs:label "Muenster Cervical Artery Dissection Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17802 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ece2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17802; "cervical artery dissection"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "To increase the sample size for genetic analyses, an independent sample of 501 CeAD patients of European origin was recruited between 2008 and 2010, in some CADISP centers and additional 12 centers in 7 European countries and the United States (Supplementary Fig. 2), applying the same inclusion criteria as for the CADISP study (Supplementary Fig. 1)." . _:3ecf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "CADISP-2: recruiting centers collaborating with the CADISP consortium for the genetics project, i.e. France, Nantes, Paris; Germany, Münster; Italy, Milan; Netherlands, Rotterdam; Spain, Barcelona; Switzerland, Lausanne; UK, London; USA, Salt Lake City - UT, Charlottesville – VA" . _:3ed02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25420145"; "Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "The Muenster cervical artery dissection collection was in part supported by Competence Net Stroke, Germany (BMBF), by the “Innovative Medizinische Forschung” (IMF) of the Medical Faculty of the University of Münster, by the Neuromedical Foundation, Münster and by the Leibniz Institute of Atherosclerosis Research." . _:3ed12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with cervical artery dissection at the University of Münster, Germany, one of the centres collaborating with the CADISP consortium that recruited patients of European origin, applying the inclusion criteria of the CADISP study, for the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ed22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCADC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17808; , ; "PMID:21696813"; "A case–parent trio study of childhood asthma in Mexico City, supported by the Intramural Research Program of the US National Institute of Environmental Health Sciences, which recruited children aged 5 to 17 with asthma, diagnosed by a paediatric allergist from clinical symptoms and response to treatment, together with their biological parents, between June 1998 and November 2003 at the paediatric allergy clinic of the Hospital Infantil de México Federico Gómez, a large public hospital in central Mexico City; parents completed questionnaires on the children's asthma symptoms and risk factors, including environmental tobacco smoke, the children had skin prick tests and lung function tests, and blood was taken from children and parents for DNA, from which the trios were genotyped genome-wide."; 1468; "MCAAS", "MCAS", "MCCAS", "Mexico Childhood Asthma Study"; rdfs:label "Mexico City Childhood Asthma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17808 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ed32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17808; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2722731/fullTextXML"; rdfs:comment "Children with asthma (aged 5–17) and their biological parents were recruited between June 1998 and November 2003 from a pediatric allergy specialty clinic at a large public hospital in central Mexico City, Hospital Infantil de Mexico Frederico Gomez." . _:3ed42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2722731/fullTextXML"; rdfs:comment "Children with asthma (aged 5–17) and their biological parents were recruited between June 1998 and November 2003 from a pediatric allergy specialty clinic at a large public hospital in central Mexico City, Hospital Infantil de Mexico Frederico Gomez." . _:3ed52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21696813"; "Identification of ATPAF1 as a novel candidate gene for asthma in children."; "PMID:21696813", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3185108/"; rdfs:comment "No SNPs reached significance in any of the populations of Hispanic descent (CAMP and CARE Hispanic, GALA Mexican or Puerto Rican, and Mexico Childhood Asthma Study families) (Table II)." . _:3ed62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–parent trio study of childhood asthma in Mexico City, supported by the Intramural Research Program of the US National Institute of Environmental Health Sciences, which recruited children aged 5 to 17 with asthma, diagnosed by a paediatric allergist from clinical symptoms and response to treatment, together with their biological parents, between June 1998 and November 2003 at the paediatric allergy clinic of the Hospital Infantil de México Federico Gómez, a large public hospital in central Mexico City; parents completed questionnaires on the children's asthma symptoms and risk factors, including environmental tobacco smoke, the children had skin prick tests and lung function tests, and blood was taken from children and parents for DNA, from which the trios were genotyped genome-wide."; "PMID:19714205", "PMID:21696813", "PMID:21804549", "PMID:26635092"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ed72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1468; "study subjects in the 492 complete case-parent trios of the final GWAS data set (an analysed subset)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2722731/fullTextXML"; rdfs:comment "There were 492 complete case-parent trios (1,468 study subjects) in the final analysis data set." . _:3ed82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCAAS"; . _:3ed92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCAS"; . _:3eda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCCAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17817; , ; "PMID:23805179"; "A cross-sectional study of schizophrenia conducted by the Mental Illness and Neuroscience Discovery Institute (now the Mind Research Network) at the University of New Mexico, the University of Minnesota, Massachusetts General Hospital and the University of Iowa, which collected clinical, cognitive, structural, functional and diffusion MRI and genetic data under a common protocol from people with schizophrenia, recruited where possible early in their illness, and sex- and age-matched controls, to identify neuroimaging biomarkers of schizophrenia."; 188; 190; "MCIC", "MCIC collection", "MIND Clinical Imaging Consortium", "Mind Clinical Imaging Consortium study of schizophrenia"; rdfs:label "Mind Clinical Imaging Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17817 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3edb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17817; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3689744/fullTextXML"; rdfs:comment "In this study, we combined genetics, imaging and neuropsychological data obtained from the Mind Clinical Imaging Consortium study of schizophrenia (n = 328)." . _:3edc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23760817%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "The Mental Illness and Neuroscience Discovery Institute, now the Mind Research Network (MRN, http://www.mrn.org/ ), comprised of investigators at the University of New Mexico, the University of Minnesota, Massachusetts General Hospital, and the University of Iowa, conducted a cross-sectional study to identify quantitative neuroimaging biomarkers of schizophrenia." . _:3edd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23805179"; "A Genome-Wide Association Study Suggests Novel Loci Associated with a Schizophrenia-Related Brain-Based Phenotype."; "PMID:23805179", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3689744/fullTextXML"; rdfs:comment "In this study, we combined genetics, imaging and neuropsychological data obtained from the Mind Clinical Imaging Consortium study of schizophrenia (n = 328)." . _:3ede2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of schizophrenia conducted by the Mental Illness and Neuroscience Discovery Institute (now the Mind Research Network) at the University of New Mexico, the University of Minnesota, Massachusetts General Hospital and the University of Iowa, which collected clinical, cognitive, structural, functional and diffusion MRI and genetic data under a common protocol from people with schizophrenia, recruited where possible early in their illness, and sex- and age-matched controls, to identify neuroimaging biomarkers of schizophrenia."; "PMID:23760817", "PMID:23805179"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3edf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 188; "patients with schizophrenia and matched healthy controls recruited at four sites, July 2004 - July 2006 (2004-2006)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3727653/unicode"; rdfs:comment "Across the four research sites— UNM, UMinn, MGH and UIowa —188 patients with schizophrenia and 190 demographic, age and sex- matched healthy control subjects were recruited for this study between July 2004 and July 2006 (Table 1)." . _:3ee02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 190; "patients with schizophrenia and matched healthy controls recruited at four sites, July 2004 - July 2006 (2004-2006)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3727653/unicode"; rdfs:comment "Across the four research sites— UNM, UMinn, MGH and UIowa —188 patients with schizophrenia and 190 demographic, age and sex- matched healthy control subjects were recruited for this study between July 2004 and July 2006 (Table 1)." . _:3ee12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MCIC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Manchester Cancer Research Centre (MCRC), the PGS Catalog cohort id for the 1,202-participant validation cohort of Lebrett et al. 2023 (PMID:37154150; 652 surgical lung cancer patients and 550 Manchester Lung Health Check participants), is an institution, and the GWAS Catalog tags the same study as the Manchester Cancer Research Centre Biobank (GCST90315948, the example of COHO:0001371). Replaced by COHO:0001371, which carries the names MCRC and Manchester Cancer Research Centre. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Manchester Cancer Research Centre"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17825; , ; , ; "PGS000751", "PMID:31226226"; "Epidemiological case-control studies of prostate cancer conducted since 1996 by the University of Texas MD Anderson Cancer Center in the Houston metropolitan area, whose cases, not restricted by Gleason score, stage or PSA, were accrued from institutions of the Houston Medical Center and whose controls were identified by random-digit dialling or among hospital visitors and frequency-matched to cases on age and race, with lifestyle, demographic and family-history data collected by a standardised questionnaire."; "The acronym MDA also denotes MD Anderson Ovarian Cancer Study (COHO:0002047) and MD Anderson Renal Cell Cancer Study (COHO:0002048); this term is Prostate Cancer Case-Control Studies at MD Anderson."@en, "The acronym MDACCS also denotes MD Anderson Cancer Center lung cancer study (COHO:0000874), MD Anderson Cancer Center melanoma study (COHO:0000875), MD Anderson Ovarian Cancer Study (COHO:0002047) and MD Anderson Renal Cell Cancer Study (COHO:0002048); this term is Prostate Cancer Case-Control Studies at MD Anderson."@en; 543; 474; "MDA", "MDACCS"; ; rdfs:label "Prostate Cancer Case-Control Studies at MD Anderson"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17825 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ee22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17825; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Case-Control Studies at MD Anderson | MDA | AAPC GWAS | 543 | 474 | 528 | 437 | Case-control, Houston, TX, U.S. | Houston Medical Center | Random-digit-dialing or hospital visitors | [PMID:15264247]" . _:3ee32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.839/MediaObjects/41588_2011_BFng839_MOESM33_ESM.pdf"; rdfs:comment "MDA Prostate Cancer Case-Control Studies at MD Anderson USA 1 543/528 474/437" . _:3ee42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:3ee52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31226226"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "Set 2 included 1,253 cases and 1,069 controls from four studies: the MEC, the Los Angeles Aggressive Prostate Cancer (LAAPC), MD Anderson (MDA) and San Antonio Biomarkers of Risk (SABOR)." . _:3ee62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Epidemiological case-control studies of prostate cancer conducted since 1996 by the University of Texas MD Anderson Cancer Center in the Houston metropolitan area, whose cases, not restricted by Gleason score, stage or PSA, were accrued from institutions of the Houston Medical Center and whose controls were identified by random-digit dialling or among hospital visitors and frequency-matched to cases on age and race, with lifestyle, demographic and family-history data collected by a standardised questionnaire."; "PMID:21637779", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ee72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 543; "MDA African American contribution before quality control in the 2017 table"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Case-Control Studies at MD Anderson | MDA | AAPC GWAS | 543 | 474 | 528 | 437 | Case-control, Houston, TX, U.S. | Houston Medical Center | Random-digit-dialing or hospital visitors | [PMID:15264247]" . _:3ee82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 474; "MDA African American contribution before quality control in the 2017 table"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "Prostate Cancer Case-Control Studies at MD Anderson | MDA | AAPC GWAS | 543 | 474 | 528 | 437 | Case-control, Houston, TX, U.S. | Houston Medical Center | Random-digit-dialing or hospital visitors | [PMID:15264247]" . _:3ee92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDA"; . _:3eea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id MDACCS (MD Anderson Cancer Center Study) stands for a different MD Anderson study in each GWAS it is recorded in: the lung cancer study (COHO:0000874), the melanoma study (COHO:0000875), the ovarian, prostate and renal cell cancer studies (COHO:0002047, COHO:0002044, COHO:0002048), and pancreatic cancer, glioma and colorectal cancer series COHO does not have. It is not one cohort; the id is an acronym of each of those terms. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete MD Anderson Cancer Center Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17835; , ; "PMID:25261932"; "A case-control study of lymphoma in Texas, USA, whose cases came from the MD Anderson Cancer Center and whose controls came from the Kelsey Seybold Clinics, and which contributed cases and controls to the replication stages of genome-wide association studies of diffuse large B-cell lymphoma (2014), marginal zone lymphoma (2015) and chronic lymphocytic leukemia (2016)."; 644; 644; "MD Anderson lymphoma case control study", "MDALCCS", "MDALyms"; rdfs:label "MD Anderson lymphoma case-control study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17835 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3eeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17835; "lymphoma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "MD Anderson lymphoma case control study d MDALyms 644 644 Case-control, Texas MD Anderson Cancer Center Kelsey Seybold Clinics" . _:3eec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3105/MediaObjects/41588_2014_BFng3105_MOESM22_ESM.pdf"; rdfs:comment "MD Anderson lymphoma case-control study MD Anderson 374 374 Case-control, USA MD Anderson Cancer Center Kelsey Seybold Clinics" . _:3eed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25261932"; "Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma."; "PMID:25261932", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3105/MediaObjects/41588_2014_BFng3105_MOESM22_ESM.pdf"; rdfs:comment "MD Anderson lymphoma case-control study MD Anderson 374 374 Case-control, USA MD Anderson Cancer Center Kelsey Seybold Clinics" . _:3eee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of lymphoma in Texas, USA, whose cases came from the MD Anderson Cancer Center and whose controls came from the Kelsey Seybold Clinics, and which contributed cases and controls to the replication stages of genome-wide association studies of diffuse large B-cell lymphoma (2014), marginal zone lymphoma (2015) and chronic lymphocytic leukemia (2016)."; "PMID:25261932", "PMID:25569183", "PMID:26956414"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3eef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 644; "MDALyms CLL cases and controls with DNA available for the 2016 study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "MD Anderson lymphoma case control study d MDALyms 644 644 Case-control, Texas MD Anderson Cancer Center Kelsey Seybold Clinics" . _:3ef02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 644; "MDALyms CLL cases and controls with DNA available for the 2016 study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "MD Anderson lymphoma case control study d MDALyms 644 644 Case-control, Texas MD Anderson Cancer Center Kelsey Seybold Clinics" . _:3ef12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDALCCS"; . _:3ef22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDALyms"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17844; , ; ; "PMID:23535730"; "A hospital-based case-control study of ovarian cancer in Texas, USA, that takes part in the Ovarian Cancer Association Consortium under the study code MDA and whose cases and controls were genotyped for the consortium's genome-wide association studies of epithelial ovarian cancer."; "The acronym MDA also denotes Prostate Cancer Case-Control Studies at MD Anderson (COHO:0002044) and MD Anderson Renal Cell Cancer Study (COHO:0002048); this term is MD Anderson Ovarian Cancer Study."@en, "The acronym MDACCS also denotes MD Anderson Cancer Center lung cancer study (COHO:0000874), MD Anderson Cancer Center melanoma study (COHO:0000875), Prostate Cancer Case-Control Studies at MD Anderson (COHO:0002044) and MD Anderson Renal Cell Cancer Study (COHO:0002048); this term is MD Anderson Ovarian Cancer Study."@en; 323; 385; "MDA", "MDACCS", "MDAOCS"; rdfs:label "MD Anderson Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17844 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ef32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17844; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "MD Anderson Ovarian Cancer Study MDA USA: Texas Hospital based/ Case-‐control 323 385 98.5 313(190)" . _:3ef42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "MD Anderson Ovarian Cancer Study MDA USA: Texas Hospital based/ Case-‐control" . _:3ef52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23535730"; "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer."; "PMID:23535730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "MD Anderson Ovarian Cancer Study MDA USA: Texas Hospital based/ Case-‐control" . _:3ef62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of ovarian cancer in Texas, USA, that takes part in the Ovarian Cancer Association Consortium under the study code MDA and whose cases and controls were genotyped for the consortium's genome-wide association studies of epithelial ovarian cancer."; "PMID:28346442", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ef72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 323; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "MD Anderson Ovarian Cancer Study MDA USA: Texas Hospital based/ Case-‐control 323 385 98.5 313(190)" . _:3ef82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 385; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "MD Anderson Ovarian Cancer Study MDA USA: Texas Hospital based/ Case-‐control 323 385 98.5 313(190)" . _:3ef92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDA"; . _:3efa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACCS"; . _:3efb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDAOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17854; , ; "PGS000076", "PMID:28598434"; "A population-based case-control study of renal cell carcinoma run from the University of Texas MD Anderson Cancer Center in Houston since 2002, whose cases are Texas residents with newly diagnosed, histologically confirmed renal cell carcinoma identified from the appointment schedules of MD Anderson's urology and genitourinary oncology departments, and whose controls are cancer-free Texas residents found by random-digit dialling and frequency-matched to cases by age, sex, ethnicity and county of residence, with an in-person interview and a blood sample from each participant."; "The acronym MDA also denotes Prostate Cancer Case-Control Studies at MD Anderson (COHO:0002044) and MD Anderson Ovarian Cancer Study (COHO:0002047); this term is MD Anderson Renal Cell Cancer Study."@en, "The acronym MDACCS also denotes MD Anderson Cancer Center lung cancer study (COHO:0000874), MD Anderson Cancer Center melanoma study (COHO:0000875), Prostate Cancer Case-Control Studies at MD Anderson (COHO:0002044) and MD Anderson Ovarian Cancer Study (COHO:0002047); this term is MD Anderson Renal Cell Cancer Study."@en; 910; 566; "MD Anderson RCC Study", "MDA", "MDACCS", "MDARCCS"; ; rdfs:label "MD Anderson Renal Cell Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17854 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3efc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17854; "renal cell carcinoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3276284/"; rdfs:comment "The primary scan for the discovery population of RCC case–control study (910 cases and 566 controls) was performed at MD Anderson Cancer Center using the Illumina HumanHap660W Beadchips." . _:3efd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; rdfs:comment "Studies included in the replication MD Anderson Renal Cell Cancer Study (MD Anderson)49 MD Anderson Cancer Center(MDACC) , US" . _:3efe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000076"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:3eff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28598434"; "Genome-wide association study identifies multiple risk loci for renal cell carcinoma."; "PMID:28598434", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5472706/fullTextXML"; rdfs:comment "The statistical analysis included summary data from four previously published scans conducted at the NCI (NCI-1)9, IARC (IARC-1)9, the University of Texas MD Anderson Cancer Center (MDA)10, and the Institute of Cancer Research, UK (UK)11, as well as the two new scans from NCI (NCI-2) and IARC (IARC-2)." . _:3f002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of renal cell carcinoma run from the University of Texas MD Anderson Cancer Center in Houston since 2002, whose cases are Texas residents with newly diagnosed, histologically confirmed renal cell carcinoma identified from the appointment schedules of MD Anderson's urology and genitourinary oncology departments, and whose controls are cancer-free Texas residents found by random-digit dialling and frequency-matched to cases by age, sex, ethnicity and county of residence, with an in-person interview and a blood sample from each participant."; "PMID:22010048", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 910; "Native RCC discovery samples before genotyping quality control in the 2011 own study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3276284/"; rdfs:comment "The primary scan for the discovery population of RCC case–control study (910 cases and 566 controls) was performed at MD Anderson Cancer Center using the Illumina HumanHap660W Beadchips." . _:3f022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 566; "Native RCC discovery samples before genotyping quality control in the 2011 own study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3276284/"; rdfs:comment "The primary scan for the discovery population of RCC case–control study (910 cases and 566 controls) was performed at MD Anderson Cancer Center using the Illumina HumanHap660W Beadchips." . _:3f032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDA"; . _:3f042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDACCS"; . _:3f052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDARCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17865; , , , ; , , , , , , ; "PMID:21042317"; "A genome-wide association study of major depressive disorder that combined unrelated cases and screened controls from several sources genotyped on different platforms: Australian twins and their families recruited through the Australian Twin Registry by the Queensland Institute of Medical Research, the Netherlands Study of Depression and Anxiety, the Netherlands Twin Registry, patients of psychiatric hospitals in Scotland recruited by the University of Edinburgh, and controls from the Molecular Genetics of Schizophrenia study in the United States."; 2431; 3673; "MDD2000", "MDD2000 Study", "MDD2000+", "MDD2000+ project", "MDD2000+ sample"; rdfs:label "MDD2000+ study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17865 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17865; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "The MDD2000+ project comprises a total of 2431 cases with MDD and 3673 screened controls from different sources and genotyped on different platforms (Tables 1 and 2)." . _:3f072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "Study participants were adult twins and their families recruited through the Australian Twin Registry (http://www.twins.org.au). Only unrelated individuals were included in MDD2000+." . _:3f082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "The MDD2000+ project comprises a total of 2431 cases with MDD and 3673 screened controls from different sources and genotyped on different platforms (Tables 1 and 2). Samples were provided by the Queensland Institute of Medical Research (QIMR, Australia), The Netherlands Study of Anxiety and Depression (NESDA), The Netherlands Twin Registry (NTR), the University of Edinburgh (UK), and the Molecular Genetics of Schizophrenia study (controls only, US)." . _:3f092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "The MDD2000+ project comprises a total of 2431 cases with MDD and 3673 screened controls from different sources and genotyped on different platforms (Tables 1 and 2). Samples were provided by the Queensland Institute of Medical Research (QIMR, Australia), The Netherlands Study of Anxiety and Depression (NESDA), The Netherlands Twin Registry (NTR), the University of Edinburgh (UK), and the Molecular Genetics of Schizophrenia study (controls only, US)." . _:3f0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "The MDD2000+ project comprises a total of 2431 cases with MDD and 3673 screened controls from different sources and genotyped on different platforms (Tables 1 and 2). Samples were provided by the Queensland Institute of Medical Research (QIMR, Australia), The Netherlands Study of Anxiety and Depression (NESDA), The Netherlands Twin Registry (NTR), the University of Edinburgh (UK), and the Molecular Genetics of Schizophrenia study (controls only, US)." . _:3f0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "Samples were provided by the Queensland Institute of Medical Research (QIMR, Australia), The Netherlands Study of Anxiety and Depression (NESDA), The Netherlands Twin Registry (NTR), the University of Edinburgh (UK), and the Molecular Genetics of Schizophrenia study (controls only, US)." . _:3f0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21042317"; "Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned."; "PMID:21042317", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "In this study, we present the largest GWAS for MDD to date, the MDD2000+ study comprising 2431 cases and 3673 screened controls." . _:3f0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of major depressive disorder that combined unrelated cases and screened controls from several sources genotyped on different platforms: Australian twins and their families recruited through the Australian Twin Registry by the Queensland Institute of Medical Research, the Netherlands Study of Depression and Anxiety, the Netherlands Twin Registry, patients of psychiatric hospitals in Scotland recruited by the University of Edinburgh, and controls from the Molecular Genetics of Schizophrenia study in the United States."; "PMID:21042317"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2431; "unrelated major depressive disorder cases and screened controls in the MDD2000+ genome-wide association study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "The MDD2000+ project comprises a total of 2431 cases with MDD and 3673 screened controls from different sources and genotyped on different platforms (Tables 1 and 2)." . _:3f0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3673; "unrelated major depressive disorder cases and screened controls in the MDD2000+ genome-wide association study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3252611/fullTextXML"; rdfs:comment "The MDD2000+ project comprises a total of 2431 cases with MDD and 3673 screened controls from different sources and genotyped on different platforms (Tables 1 and 2)." . _:3f102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDD2000"; . _:3f112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MDD2000+"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17878; , ; ; "PMID:30093612"; "A clinic-based series of women with endometrial cancer at Mayo Clinic in the United States, whose cases were contributed to the genome-wide association studies of the Endometrial Cancer Association Consortium (ECAC)."; "MECS", "Mayo Clinic Endometrial Cancer Study"; rdfs:label "Mayo Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17878 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17878; "endometrial cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-018-05427-7/MediaObjects/41467_2018_5427_MOESM4_ESM.xlsx"; rdfs:comment "MECS Mayo Endometrial Cancer Study USA; Clinic based cases" . _:3f132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-018-05427-7/MediaObjects/41467_2018_5427_MOESM4_ESM.xlsx"; rdfs:comment "MECS Mayo Endometrial Cancer Study USA; Clinic based cases" . _:3f142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30093612"; "Identification of nine new susceptibility loci for endometrial cancer."; "PMID:30093612", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6085317/fullTextXML"; rdfs:comment "The Mayo Endometrial Cancer Study (MECS) and Mayo controls (MAY) were supported by grants from the National Cancer Institute of United States Public Health Service (R01 CA122443, P30 CA15083, P50 CA136393, and GAME-ON the NCI Cancer Post-GWAS Initiative U19 CA148112), the Fred C and Katherine B Andersen Foundation, the Mayo Foundation, and the Ovarian Cancer Research Fund with support of the Smith family, in memory of Kathryn Sladek Smith." . _:3f152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based series of women with endometrial cancer at Mayo Clinic in the United States, whose cases were contributed to the genome-wide association studies of the Endometrial Cancer Association Consortium (ECAC)."; "PMID:30093612"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17884; , , ; "PGS000013", "PMID:32762905"; "A case-control study of coronary artery disease conducted by MedGenome in India, whose cases and controls were recruited from outpatient clinics and hospitals in five Indian cities (Kochi, Jaipur, Coimbatore, Chennai and Bangalore) and genotyped to test a framework for assessing a genome-wide polygenic score for coronary artery disease in South Asians."; 1826; 1209; "MedGenome", "MedGenome CAD case-control study", "MedGenome study"; ; rdfs:label "MedGenome case-control study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17884 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17884; "coronary artery disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "To provide a set of individuals to test the framework for GPSCAD assessment, a second set of individuals −1,826 CAD cases and 1,209 controls - were recruited from outpatient clinics and hospitals at 5 cities in India -- Kochi, Jaipur, Coimbatore, Chennai and Bangalore." . _:3f182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "Using the newly-developed GPSCAD and bioinformatics framework, we next studied 1,800 CAD cases and 1,163 control individuals newly-recruited in India as part of a MedGenome study." . _:3f192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000013"; "Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians."; "PMID:32762905" . _:3f1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32762905"; "Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians."; "PMID:32762905", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "Using the newly-developed GPSCAD and bioinformatics framework, we next studied 1,800 CAD cases and 1,163 control individuals newly-recruited in India as part of a MedGenome study." . _:3f1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of coronary artery disease conducted by MedGenome in India, whose cases and controls were recruited from outpatient clinics and hospitals in five Indian cities (Kochi, Jaipur, Coimbatore, Chennai and Bangalore) and genotyped to test a framework for assessing a genome-wide polygenic score for coronary artery disease in South Asians."; "PMID:32762905"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1826; "coronary artery disease cases and controls recruited at clinics and hospitals in five Indian cities"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "To provide a set of individuals to test the framework for GPSCAD assessment, a second set of individuals −1,826 CAD cases and 1,209 controls - were recruited from outpatient clinics and hospitals at 5 cities in India -- Kochi, Jaipur, Coimbatore, Chennai and Bangalore." . _:3f1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1209; "coronary artery disease cases and controls recruited at clinics and hospitals in five Indian cities"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7592606/unicode"; rdfs:comment "To provide a set of individuals to test the framework for GPSCAD assessment, a second set of individuals −1,826 CAD cases and 1,209 controls - were recruited from outpatient clinics and hospitals at 5 cities in India -- Kochi, Jaipur, Coimbatore, Chennai and Bangalore." . _:3f1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MedGenome"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17893; , , , , , , , , , , , , , , , , , , , , ; , ; "PGS005314", "PMID:25102180"; "A consortium of studies with African American participants that meta-analyses genome-wide association studies of type 2 diabetes in African Americans to investigate the genetic architecture of the disease in this population; its parent studies include ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI."; 8284; 15543; 23827; "MEDIA", "MEta-analysis of type 2 DIabetes in African Americans", "MEta-analysis of type 2 DIabetes in African Americans consortium"; ; rdfs:label "MEta-analysis of type 2 DIabetes in African Americans Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17893 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17893; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25102180+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In order to investigate the genetic architecture of T2D in African Americans, the MEta-analysis of type 2 DIabetes in African Americans (MEDIA) Consortium examined 17 GWAS on T2D comprising 8,284 cases and 15,543 controls in African Americans in stage 1 analysis." . _:3f202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/supplementaryFiles"; rdfs:comment "CHS Cardiovascular Health Study Population-based, prospective 226 474 700 225 474 699 1669507" . _:3f242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/supplementaryFiles"; rdfs:comment "CFS Cleveland Family Study Family-based, prospective 81 98 179 81 98 179 7881656" . _:3f282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/supplementaryFiles"; rdfs:comment "GENOA Genetic Epidemiology Network of Arteriopathy Family-based 293 246 539 293 246 539 11799070" . _:3f292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/supplementaryFiles"; rdfs:comment "IRAS Insulin Resistance Atherosclerosis Study Population-based, prospective 115 164 279 115 163 278 8680609" . _:3f332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "We thank all the study participants for their valuable contributions to the parent studies (ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI) of the MEDIA consortium." . _:3f352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005314"; "Polygenic Risk for Type 2 Diabetes in African Americans."; "PMID:38470993" . _:3f362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25102180"; "Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes."; "PMID:25102180", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25102180+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In order to investigate the genetic architecture of T2D in African Americans, the MEta-analysis of type 2 DIabetes in African Americans (MEDIA) Consortium examined 17 GWAS on T2D comprising 8,284 cases and 15,543 controls in African Americans in stage 1 analysis." . _:3f372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of studies with African American participants that meta-analyses genome-wide association studies of type 2 diabetes in African Americans to investigate the genetic architecture of the disease in this population; its parent studies include ARIC, CARDIA, CFS, CHS, eMERGE, FamHS, FIND, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, IPM Biobank, IRAS, IRASFS, JHS, MESA, MESA Family, SCCS, SIGNET-REGARDS, WFSM and WHI."; "PMID:25102180"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8284; "African American participants (at most) of the 17 GWAS in the consortium's stage 1 discovery meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "Stage 1 discovery samples included 17 T2D GWAS studies (ARIC, CARDIA, CFS, CHS, FamHS, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, JHS, MESA, MESA Family, SIGNET-REGARDS, WFSM, FIND, and WHI) with up to 23,827 African American subjects (8,284 cases and 15,543 controls)." . _:3f392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15543; "African American participants (at most) of the 17 GWAS in the consortium's stage 1 discovery meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "Stage 1 discovery samples included 17 T2D GWAS studies (ARIC, CARDIA, CFS, CHS, FamHS, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, JHS, MESA, MESA Family, SIGNET-REGARDS, WFSM, FIND, and WHI) with up to 23,827 African American subjects (8,284 cases and 15,543 controls)." . _:3f3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23827; "African American participants (at most) of the 17 GWAS in the consortium's stage 1 discovery meta-analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4125087/fullTextXML"; rdfs:comment "Stage 1 discovery samples included 17 T2D GWAS studies (ARIC, CARDIA, CFS, CHS, FamHS, GeneSTAR, GENOA, HANDLS, Health ABC, HUFS, JHS, MESA, MESA Family, SIGNET-REGARDS, WFSM, FIND, and WHI) with up to 23,827 African American subjects (8,284 cases and 15,543 controls)." . _:3f3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEDIA"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. In NEIGHBORHOOD (PMID:26752265) the MEEI dataset is the Genetic Etiologies of POAG project based at the Massachusetts Eye and Ear Infirmary, one of the three GLAUGEN studies. Replaced by COHO:0001793 (Genetic Etiologies of Primary-Open angle Glaucoma Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Massachussetts Eye and Ear Infirmary"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17923, _:genid-371333f489424440b12a13b9d98ced822608-genid17925; , ; "PMID:21907864"; "A population-based prospective study of childhood asthma, also known as the Melbourne Asthma Study, initiated in 1964 by Howard Williams of the Royal Children’s Hospital, Melbourne, Australia, which recruited four asthma or wheeze groups and a control group of children aged 7 and has followed them into their seventh decade, providing the first prospective evidence linking childhood asthma to the development of COPD; its participants contributed to the Australian Asthma Genetics Consortium’s genome-wide association study."; 484; "MESCA", "Melbourne Asthma Study"; rdfs:label "Melbourne Epidemiological Study of Childhood Asthma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17923 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17925 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17923; "wheezy bronchitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13331842/fullTextXML"; rdfs:comment "MESCA started in 1964, when four asthma/wheeze groups and a control group, all aged 7, were recruited and have been followed into their seventh decade." . _:3f3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17925; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13331842/fullTextXML"; rdfs:comment "MESCA started in 1964, when four asthma/wheeze groups and a control group, all aged 7, were recruited and have been followed into their seventh decade." . _:3f3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13331842/fullTextXML"; rdfs:comment "Introduction The study set-up The Melbourne Epidemiological Study of Childhood Asthma (MESCA) also known as the Melbourne Asthma Study, was initiated in 1964 by the late Howard Williams of the Royal Children’s Hospital, Melbourne, with the initial aim of determining the prevalence and describing the natural history of childhood asthma and wheezy bronchitis." . _:3f3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21907864"; "Identification of IL6R and chromosome 11q13.5 as risk loci for asthma."; "PMID:21907864", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3517659/"; rdfs:comment "Phenotype and genotype collection for MESCA: C.H., M.R., P.LeS., C.R." . _:3f402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective study of childhood asthma, also known as the Melbourne Asthma Study, initiated in 1964 by Howard Williams of the Royal Children’s Hospital, Melbourne, Australia, which recruited four asthma or wheeze groups and a control group of children aged 7 and has followed them into their seventh decade, providing the first prospective evidence linking childhood asthma to the development of COPD; its participants contributed to the Australian Asthma Genetics Consortium’s genome-wide association study."; "PMID:21907864", "PMID:41849083"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:3f412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 484; "combined sample: 401 recruited at age 7 in 1964 plus 83 severe asthmatics added at age 10 (1967)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13331842/fullTextXML"; rdfs:comment "†The percentages from ages 14 to 50 follow-ups are based on the combined sample of 484 participants (401 original at age 7 + 83 SA added at age 10)" . _:3f422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESCA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17932, _:genid-371333f489424440b12a13b9d98ced822608-genid17934; , ; "PMID:28835639"; "A cross-sectional study of the metabolic syndrome in Germany whose participants, randomly recruited from Berlin, Potsdam and their surroundings, underwent a 75 g oral glucose tolerance test with insulin measurements and nutritional assessment, and included people with normal glucose metabolism as well as people with impaired glucose metabolism or type 2 diabetes; part of it was later re-examined in a follow-up study."; 2364; "MESYBEPO", "MeSy BePo", "MeSyBePo", "MesyBePo", "MesyBepo", "Metabolic Syndrome Berlin Potsdam", "Metabolic Syndrome Berlin Potsdam study", "Metabolic Syndrome Berlin-Potsdam", "Metabolisches Syndrom Berlin Potsdam"; rdfs:label "Metabolic Syndrome Berlin Potsdam Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17932 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17934 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17932; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3816867/fullTextXML"; rdfs:comment "Participants were selected from the ongoing German Metabolic Syndrome Berlin Potsdam (MeSyBePo) study that currently includes ∼2,500 individuals with different states of glucose tolerance." . _:3f442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17934; "metabolic syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3816867/fullTextXML"; rdfs:comment "Participants were selected from the ongoing German Metabolic Syndrome Berlin Potsdam (MeSyBePo) study that currently includes ∼2,500 individuals with different states of glucose tolerance." . _:3f452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5569105/fullTextXML"; rdfs:comment "The study included 2364 participants, who were randomly recruited from Berlin, Potsdam and surroundings, Germany." . _:3f462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28835639"; "Dietary Fat Intake Modulates Effects of a Frequent ACE Gene Variant on Glucose Tolerance with association to Type 2 Diabetes."; "PMID:28835639", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5569105/fullTextXML"; rdfs:comment "Additionally, the cross-sectional Metabolic Syndrome Berlin Potsdam (MeSyBePo) study, which includes nutritional assessments, was analyzed to evaluate the influence of dietary fat intake on the association between ACE genotype and type 2 diabetes prevalence in order to complement and validate the analysis in the NUGAT study." . _:3f472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of the metabolic syndrome in Germany whose participants, randomly recruited from Berlin, Potsdam and their surroundings, underwent a 75 g oral glucose tolerance test with insulin measurements and nutritional assessment, and included people with normal glucose metabolism as well as people with impaired glucose metabolism or type 2 diabetes; part of it was later re-examined in a follow-up study."; "PMID:19052638", "PMID:28257453", "PMID:28835639"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2364; "participants of the cross-sectional study, randomly recruited from Berlin, Potsdam and surroundings"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5569105/fullTextXML"; rdfs:comment "The study included 2364 participants, who were randomly recruited from Berlin, Potsdam and surroundings, Germany." . _:3f492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MESYBEPO"; . _:3f4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSy BePo"; . _:3f4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MeSyBePo"; . _:3f4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MesyBePo"; . _:3f4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MesyBepo"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17945; , ; "PMID:34607834"; "A cohort of patients of Kaiser Permanente Northern California, United States, established with funding from GlaxoSmithKline in collaboration with the University of California San Francisco and Kaiser Permanente Northern California for a genome-wide association study of extreme responders to metformin: patients who met the study criteria were invited, gave blood samples for genotyping, and had their drug response taken from the electronic health record. Its participants with type 2 diabetes who had a sulfonylurea added to initial metformin therapy formed one of the data sets of the MetGen Plus and DIRECT genome-wide meta-analysis of glycaemic response to sulfonylureas."; 434; "METRO"; rdfs:label "Metformin Response cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17945 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17945; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8669535/fullTextXML"; rdfs:comment "Included participants had a clinical diagnosis of type 2 diabetes and were treated with sulfonylureas as monotherapy or as an add-on to metformin." . _:3f4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ndownloader.figshare.com/files/30717650"; rdfs:comment "The patients from Kaiser Permanente 2 Northern California (KPNC), who met the study criteria (see https://www.gsk-studyregister.com/en/trial- details/?id=207926) were invited to participate." . _:3f502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34607834"; "Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas."; "PMID:34607834", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8669535/fullTextXML"; rdfs:comment "who completed imputation for the Metformin Response (METRO) cohort" . _:3f512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients of Kaiser Permanente Northern California, United States, established with funding from GlaxoSmithKline in collaboration with the University of California San Francisco and Kaiser Permanente Northern California for a genome-wide association study of extreme responders to metformin: patients who met the study criteria were invited, gave blood samples for genotyping, and had their drug response taken from the electronic health record. Its participants with type 2 diabetes who had a sulfonylurea added to initial metformin therapy formed one of the data sets of the MetGen Plus and DIRECT genome-wide meta-analysis of glycaemic response to sulfonylureas."; "PMID:34607834", "https://ndownloader.figshare.com/files/30717650"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 434; "METRO participants included in the 2021 sulfonylurea-response meta-analysis (analysed subset)"; "https://ndownloader.figshare.com/files/30717650"; rdfs:comment "Characteristics GoDARTS 1 GoDARTS 2 DCS PMET 1 PMET 2 METRO GEISINGER HARMONY n 1187 1118 600 835 417 434 675 219" . _:3f532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METRO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17952, _:genid-371333f489424440b12a13b9d98ced822608-genid17954, _:genid-371333f489424440b12a13b9d98ced822608-genid17956; , ; "PGS003443", "PMID:37148359"; "A prospective observational cohort of apparently healthy adults aged 20 or over whose parents and grandparents were born in Mexico, recruited from 2007 to 2011 at workplaces, homes and medical units in urban centres of central Mexico (Mexico City, Aguascalientes, León, Toluca and Cuernavaca) and re-examined about three years later, to study the incidence of type 2 diabetes, hypertension and cardiovascular disease; its samples are processed centrally at the Instituto Nacional de Ciencias Médicas y Nutrición in Mexico City."; 10052; "METS", "METSB", "MS cohort", "Mexican Metabolic Syndrome cohort", "metabolic syndrome cohort"; ; rdfs:label "Metabolic Syndrome Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17952 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17954 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid17956 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17952; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6486953/fullTextXML"; rdfs:comment "We performed a prospective observational cohort study including Mexican adults living in large urban settings of central Mexico including Mexico City, Cuernavaca, Leon, Toluca and Aguascalientes to evaluate incidence of T2D, arterial hypertension and cardiovascular disease, We aimed to identify risk factors associated to ID in order to develop a predictive model for ID in our population." . _:3f552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17954; "arterial hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6486953/fullTextXML"; rdfs:comment "We performed a prospective observational cohort study including Mexican adults living in large urban settings of central Mexico including Mexico City, Cuernavaca, Leon, Toluca and Aguascalientes to evaluate incidence of T2D, arterial hypertension and cardiovascular disease, We aimed to identify risk factors associated to ID in order to develop a predictive model for ID in our population." . _:3f562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17956; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6486953/fullTextXML"; rdfs:comment "We performed a prospective observational cohort study including Mexican adults living in large urban settings of central Mexico including Mexico City, Cuernavaca, Leon, Toluca and Aguascalientes to evaluate incidence of T2D, arterial hypertension and cardiovascular disease, We aimed to identify risk factors associated to ID in order to develop a predictive model for ID in our population." . _:3f572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6486953/fullTextXML"; rdfs:comment "We performed a prospective observational cohort study including Mexican adults living in large urban settings of central Mexico including Mexico City, Cuernavaca, Leon, Toluca and Aguascalientes to evaluate incidence of T2D, arterial hypertension and cardiovascular disease, We aimed to identify risk factors associated to ID in order to develop a predictive model for ID in our population." . _:3f582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003443"; "The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes."; "PMID:37148359" . _:3f592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37148359"; "The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes."; "PMID:37148359", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244266/fullTextXML"; rdfs:comment "The best model was tested in a target cohort (i.e. the METS cohort)." . _:3f5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort of apparently healthy adults aged 20 or over whose parents and grandparents were born in Mexico, recruited from 2007 to 2011 at workplaces, homes and medical units in urban centres of central Mexico (Mexico City, Aguascalientes, León, Toluca and Cuernavaca) and re-examined about three years later, to study the incidence of type 2 diabetes, hypertension and cardiovascular disease; its samples are processed centrally at the Instituto Nacional de Ciencias Médicas y Nutrición in Mexico City."; "PMID:31030672"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10052; "individuals examined at baseline, 2007-2011"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6486953/fullTextXML"; rdfs:comment "Clinical data and blood samples were obtained from 10,052 individuals at baseline from 2007 to 2011." . _:3f5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METS"; . _:3f5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "METSB"; . _:3f5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MS cohort"; . a owl:NamedIndividual, ; , ; , ; "PMID:24562863"; "A collection of DNA samples from people of Mexican ancestry in Los Angeles, California, one of the seven population samples added in phase 3 of the International HapMap Project and used as a reference for human genetic variation."; 77; "HapMap Phase III Mexican population", "MEX", "MXL", "Mexican ancestry in Los Angeles, California, USA"; rdfs:label "Mexican ancestry in Los Angeles, California"@en . _:3f5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3173859/"; rdfs:comment "Samples from seven additional populations were also included: African ancestry in the southwestern USA (ASW); Chinese in metropolitan Denver, Colorado, USA (CHD); Gujarati Indians in Houston, Texas, USA (GIH); Luhya in Webuye, Kenya (LWK); Maasai in Kinyawa, Kenya (MKK); Mexican ancestry in Los Angeles, California, USA (MXL); and samples collected in Tuscany, Italy (TSI)." . _:3f602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature15393/MediaObjects/41586_2015_BFnature15393_MOESM86_ESM.pdf"; rdfs:comment "People with Mexican Ancestry in Los Angeles, CA, USA Mexican-American MXL AMR 66 64" . _:3f612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3173859/"; rdfs:comment "Samples from seven additional populations were also included: African ancestry in the southwestern USA (ASW); Chinese in metropolitan Denver, Colorado, USA (CHD); Gujarati Indians in Houston, Texas, USA (GIH); Luhya in Webuye, Kenya (LWK); Maasai in Kinyawa, Kenya (MKK); Mexican ancestry in Los Angeles, California, USA (MXL); and samples collected in Tuscany, Italy (TSI)." . _:3f622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24562863"; "DNA mismatch repair MSH2 gene-based SNP associated with different populations."; "PMID:24562863", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24562863+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the MSH2 gene regional linkage association with the determined SNP (rs748780), KCNK12 variant (Allele T>C) in the intronic region, in HapMap3 full dataset populations, Yoruba in Ibadan, Nigeria (YRI), Utah residents with ancestry from northern Europe (CEU), Han Chinese in Beijing, China (CHB), and a population of Mexican ancestry in Los Angeles, California (MEX)." . _:3f632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples from people of Mexican ancestry in Los Angeles, California, one of the seven population samples added in phase 3 of the International HapMap Project and used as a reference for human genetic variation."; "PMID:20811451"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 77; "samples of Mexican ancestry (trio design) passing QC in HapMap 3 (2010)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09298/MediaObjects/41586_2010_BFnature09298_MOESM258_ESM.pdf"; rdfs:comment "MXL Trio 77 104 1,585,624 1,413,654 27 / 27" . _:3f652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MEX"; . _:3f662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MXL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid17974; , , , , , ; , ; "PGS003850", "PMID:37783704"; "A genome-wide association study of colorectal cancer in African Americans, part of a 'Minority GWAS' effort alongside a Japanese study, that pooled African American cases and controls identified from the Multiethnic Cohort, the Colorectal Cancer Family Registry, the Southern Community Cohort Study, the MD Anderson Cancer Center, the University of North Carolina CanCORS and Rectal Cancer studies and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial."; 1894; 4703; 6597; "MG-AA"; ; rdfs:label "Minority GWAS African American study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid17974 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid17974; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "The African American CRC cases and controls in this analysis are from seven studies/centers in the USA (Supplementary Material, Methods and Table S1)." . _:3f682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "DNA samples were available for 7339 African Americans (2066 CRC cases, 5273 CRC-free controls) from the following studies/centers: the Multiethnic Cohort study (MEC, 442 cases and 4620 controls), Colorectal Cancer Family Registry (CCFR, 999 cases and 290 controls), the Southern Community Cohort Study (SCCS, 164 and 160 controls), MD Anderson Cancer Center (189 cases), the University of North Carolina CanCORS study (UNC-CanCORS, 84 African American cases), the North Carolina Rectal Cancer Study (UNC-Rectal, 112 cases and 108 controls), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 76 cases and 95 controls)." . _:3f692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "DNA samples were available for 7339 African Americans (2066 CRC cases, 5273 CRC-free controls) from the following studies/centers: the Multiethnic Cohort study (MEC, 442 cases and 4620 controls), Colorectal Cancer Family Registry (CCFR, 999 cases and 290 controls), the Southern Community Cohort Study (SCCS, 164 and 160 controls), MD Anderson Cancer Center (189 cases), the University of North Carolina CanCORS study (UNC-CanCORS, 84 African American cases), the North Carolina Rectal Cancer Study (UNC-Rectal, 112 cases and 108 controls), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 76 cases and 95 controls)." . _:3f6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "DNA samples were available for 7339 African Americans (2066 CRC cases, 5273 CRC-free controls) from the following studies/centers: the Multiethnic Cohort study (MEC, 442 cases and 4620 controls), Colorectal Cancer Family Registry (CCFR, 999 cases and 290 controls), the Southern Community Cohort Study (SCCS, 164 and 160 controls), MD Anderson Cancer Center (189 cases), the University of North Carolina CanCORS study (UNC-CanCORS, 84 African American cases), the North Carolina Rectal Cancer Study (UNC-Rectal, 112 cases and 108 controls), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 76 cases and 95 controls)." . _:3f6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "DNA samples were available for 7339 African Americans (2066 CRC cases, 5273 CRC-free controls) from the following studies/centers: the Multiethnic Cohort study (MEC, 442 cases and 4620 controls), Colorectal Cancer Family Registry (CCFR, 999 cases and 290 controls), the Southern Community Cohort Study (SCCS, 164 and 160 controls), MD Anderson Cancer Center (189 cases), the University of North Carolina CanCORS study (UNC-CanCORS, 84 African American cases), the North Carolina Rectal Cancer Study (UNC-Rectal, 112 cases and 108 controls), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 76 cases and 95 controls)." . _:3f6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "DNA samples were available for 7339 African Americans (2066 CRC cases, 5273 CRC-free controls) from the following studies/centers: the Multiethnic Cohort study (MEC, 442 cases and 4620 controls), Colorectal Cancer Family Registry (CCFR, 999 cases and 290 controls), the Southern Community Cohort Study (SCCS, 164 and 160 controls), MD Anderson Cancer Center (189 cases), the University of North Carolina CanCORS study (UNC-CanCORS, 84 African American cases), the North Carolina Rectal Cancer Study (UNC-Rectal, 112 cases and 108 controls), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 76 cases and 95 controls)." . _:3f6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "DNA samples were available for 7339 African Americans (2066 CRC cases, 5273 CRC-free controls) from the following studies/centers: the Multiethnic Cohort study (MEC, 442 cases and 4620 controls), Colorectal Cancer Family Registry (CCFR, 999 cases and 290 controls), the Southern Community Cohort Study (SCCS, 164 and 160 controls), MD Anderson Cancer Center (189 cases), the University of North Carolina CanCORS study (UNC-CanCORS, 84 African American cases), the North Carolina Rectal Cancer Study (UNC-Rectal, 112 cases and 108 controls), the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, 76 cases and 95 controls)." . _:3f6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "The African American CRC cases and controls in this analysis are from seven studies/centers in the USA (Supplementary Material, Methods and Table S1)." . _:3f6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003850"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704" . _:3f702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37783704"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10545678/fullTextXML"; rdfs:comment "We evaluated the performance of each of the developed PRS in the Genetic Epidemiology Research on Adult Health and Aging Cohort (GERA) cohort; Minority GWAS Japanese study (MG-JPN)39; Minority GWAS African American study (MG-AA)40; Hispanic Colorectal Cancer Study (HCCS)41; Multiethnic Cohort study (MEC); Cancer Prevention Study II (CPSII)42; Basque-colon cohort (BCC); and Electronic Medical Records and Genomics (eMERGE) study." . _:3f712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of colorectal cancer in African Americans, part of a 'Minority GWAS' effort alongside a Japanese study, that pooled African American cases and controls identified from the Multiethnic Cohort, the Colorectal Cancer Family Registry, the Southern Community Cohort Study, the MD Anderson Cancer Center, the University of North Carolina CanCORS and Rectal Cancer studies and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial."; "PMID:25105248", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41819-0/MediaObjects/41467_2023_41819_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1894; "African American colorectal cancer cases and controls in the pooled GWAS analysis, after quality control"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "We examined associations between CRC and all 29 index SNPs in 6597 African Americans (1894 cases and 4703 controls)." . _:3f732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4703; "African American colorectal cancer cases and controls in the pooled GWAS analysis, after quality control"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "We examined associations between CRC and all 29 index SNPs in 6597 African Americans (1894 cases and 4703 controls)." . _:3f742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6597; "African American colorectal cancer cases and controls in the pooled GWAS analysis, after quality control"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3836473/"; rdfs:comment "We examined associations between CRC and all 29 index SNPs in 6597 African Americans (1894 cases and 4703 controls)." . _:3f752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MG-AA"; . a owl:NamedIndividual, ; , ; ; "PGS000809", "PMID:21833088"; "A set of healthy Norwegian controls, recruited through the Norwegian Bone Marrow Donor Registry of the Institute of Immunology, Oslo University Hospital, whose genome-wide genotypes were generated on the Illumina 550 chip by the Myasthenia Gravis Genetic Consortium and shared as external control data for genome-wide association studies."; 125; "MG_GWAS", "Myasthenia Gravis GWAS"; ; rdfs:label "Myaesthenia Gravis GWAS"@en . _:3f762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10251/MediaObjects/41586_2011_BFnature10251_MOESM243_ESM.pdf"; rdfs:comment "MG_GWAS (Myaesthenia Gravis GWAS) These genome-wide data were obtained from healthy Norwegian individuals recruited through the Norwegian Bone Marrow Donor Registry held at the Institute of Immunology, Oslo University Hospital, Norway (http://www.nordonor.org/)." . _:3f772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10251/MediaObjects/41586_2011_BFnature10251_MOESM243_ESM.pdf"; rdfs:comment "MG_GWAS (Myaesthenia Gravis GWAS) These genome-wide data were obtained from healthy Norwegian individuals recruited through the Norwegian Bone Marrow Donor Registry held at the Institute of Immunology, Oslo University Hospital, Norway (http://www.nordonor.org/)." . _:3f782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000809"; "Contribution of common risk variants to multiple sclerosis in Orkney and Shetland."; "PMID:34088990" . _:3f792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21833088"; "Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis."; "PMID:21833088", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10251/MediaObjects/41586_2011_BFnature10251_MOESM243_ESM.pdf"; rdfs:comment "MG_GWAS (Myaesthenia Gravis GWAS) These genome-wide data were obtained from healthy Norwegian individuals recruited through the Norwegian Bone Marrow Donor Registry held at the Institute of Immunology, Oslo University Hospital, Norway (http://www.nordonor.org/)." . _:3f7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A set of healthy Norwegian controls, recruited through the Norwegian Bone Marrow Donor Registry of the Institute of Immunology, Oslo University Hospital, whose genome-wide genotypes were generated on the Illumina 550 chip by the Myasthenia Gravis Genetic Consortium and shared as external control data for genome-wide association studies."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10251/MediaObjects/41586_2011_BFnature10251_MOESM243_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 125; "healthy Norwegian control samples in the data set before QC (121 after QC)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10251/MediaObjects/41586_2011_BFnature10251_MOESM243_ESM.pdf"; rdfs:comment "MG_GWAS Norway 550v3 125 121" . _:3f7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MG_GWAS"; . a owl:NamedIndividual, ; , ; "PGS005203", "PMID:28986454"; "A cohort of outpatients at Massachusetts General Hospital with recorded demographic data, medical and medication history and a resting electrocardiogram, many of whom also underwent an oral glucose tolerance test, genotyped genome-wide for genetic studies of cardiometabolic traits such as the QT interval, insulin secretion and body mass index."; "The acronym CAMP also denotes Childhood Asthma Management Program (COHO:0000998); this term is MGH Cardiology and Metabolic Patient Cohort."@en; 3756; "CAMP", "CAMP MGH", "CAMP-MGH", "Cardiology and Metabolic Patient Cohort study at Massachusetts General Hospital", "Cardiovascular and Metabolic Patient cohort", "MGH Cardiology and Metabolic Patient cohort", "MGH-CMPC", "Massachusetts General Hospital Cardiology and Metabolic Patient cohort"; ; rdfs:label "MGH Cardiology and Metabolic Patient Cohort"@en . _:3f7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5937525/unicode"; rdfs:comment "Data from the Cardiology and Metabolic Patient Cohort study at Massachusetts General Hospital (n=1,675) were used to validate genetic associations with insulin secretion as well as test the observational association of insulin secretion and BMI." . _:3f7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3f7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28986454"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:28986454", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5679734/"; rdfs:comment "The Cardiovascular and Metabolic Patient (CAMP) cohort is composed of 3,756 individuals who underwent assessment of demographic data, past medical history, including medications, and a single resting ECG measurement." . _:3f802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of outpatients at Massachusetts General Hospital with recorded demographic data, medical and medication history and a resting electrocardiogram, many of whom also underwent an oral glucose tolerance test, genotyped genome-wide for genetic studies of cardiometabolic traits such as the QT interval, insulin secretion and body mass index."; "PMID:28986454", "PMID:29295838"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3756; "CAMP cohort described in the 2017 QT study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5679734/"; rdfs:comment "The Cardiovascular and Metabolic Patient (CAMP) cohort is composed of 3,756 individuals who underwent assessment of demographic data, past medical history, including medications, and a single resting ECG measurement." . _:3f822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMP"; . _:3f832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMP MGH"; . _:3f842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CAMP-MGH"; . _:3f852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH-CMPC"; . a owl:NamedIndividual, ; "PGS005200"; ; "MGH-CNC"; ; rdfs:label "MGH CNC"@en . _:3f862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3f872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH-CNC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18008, _:genid-371333f489424440b12a13b9d98ced822608-genid18010; , ; "PGS005200", "PMID:40691366"; "The stroke genetics studies of Massachusetts General Hospital in Boston, United States, analysed together under this name: the Genetics of Cerebral Hemorrhage on Anticoagulation (GOCHA) study of people over 55 with acute primary haemorrhagic stroke and controls from ambulatory clinics, and the Genes Affecting Stroke Risk and Outcome Study (GASROS), a single-centre prospective cohort of adults with acute ischaemic stroke who presented to the hospital from 2003 to 2011, with controls matched on age, sex and race or ethnicity."; "MGH Stroke", "MGH Stroke Study", "MGH-stroke"; ; rdfs:label "Massachusetts General Hospital Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18008 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18010 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18008; "intracerebral hemorrhage"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Genes Affecting Stroke Risk and Outcome Study (GASROS) is a single-center prospective cohort that enrolled cases with acute ischemic stroke, aged more than 18 years who presented to MGH from 2003 to 2011." . _:3f892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18010; "ischemic stroke"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Genes Affecting Stroke Risk and Outcome Study (GASROS) is a single-center prospective cohort that enrolled cases with acute ischemic stroke, aged more than 18 years who presented to MGH from 2003 to 2011." . _:3f8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "MGH Stroke Study: The Genetics of Cerebral Hemorrhage on Anticoagulation (GOCHA) study is a multicenter study of the genetics of intracerebral hemorrhage in the USA, based at the Massachusetts General Hospital." . _:3f8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:3f8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "Massachusetts General Hospital Stroke Study (MGH Stroke) S.A.Lu. was previously supported by NIH grants R01HL139731 and R01HL157635, and American Heart Association 18SFRN34250007." . _:3f8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The stroke genetics studies of Massachusetts General Hospital in Boston, United States, analysed together under this name: the Genetics of Cerebral Hemorrhage on Anticoagulation (GOCHA) study of people over 55 with acute primary haemorrhagic stroke and controls from ambulatory clinics, and the Genes Affecting Stroke Risk and Outcome Study (GASROS), a single-centre prospective cohort of adults with acute ischaemic stroke who presented to the hospital from 2003 to 2011, with controls matched on age, sex and race or ethnicity."; "PMID:29892015"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH Stroke"; . _:3f8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH-stroke"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18018; , , , , , ; , , , , ; "PGS003850", "PMID:37783704"; "A genome-wide association study of colorectal cancer in people of Japanese ancestry that pooled cases and controls from the Multiethnic Cohort Study, the Colorectal Cancer Family Registry, the Japan Public Health Center-based Prospective Study and case-control studies in Hawaii and in Fukuoka and Nagano, Japan, first analysed in a trans-ethnic meta-analysis with a parallel African American study."; 2627; 3797; 6424; "MG-JPN"; ; rdfs:label "Minority GWAS Japanese study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18018 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3f902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18018; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The colorectal cancer GWAS among Japanese and African Americans was funded through US National Institutes of Health (NIH) grants 1R01-CA126895, 1R01-CA126895-S1, 1R01-CA104132, 2U24-CA074806." . _:3f912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:3f922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:3f932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:3f942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:3f952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "The Fukuoka Colorectal Cancer Study is a community-based case-control study of incident colorectal adenocarcinomas 20,21 ." . _:3f962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:3f972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:3f982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003850"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704" . _:3f992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37783704"; "Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations."; "PMID:37783704", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10545678/fullTextXML"; rdfs:comment "We evaluated the performance of each of the developed PRS in the Genetic Epidemiology Research on Adult Health and Aging Cohort (GERA) cohort; Minority GWAS Japanese study (MG-JPN)39; Minority GWAS African American study (MG-AA)40; Hispanic Colorectal Cancer Study (HCCS)41; Multiethnic Cohort study (MEC); Cancer Prevention Study II (CPSII)42; Basque-colon cohort (BCC); and Electronic Medical Records and Genomics (eMERGE) study." . _:3f9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of colorectal cancer in people of Japanese ancestry that pooled cases and controls from the Multiethnic Cohort Study, the Colorectal Cancer Family Registry, the Japan Public Health Center-based Prospective Study and case-control studies in Hawaii and in Fukuoka and Nagano, Japan, first analysed in a trans-ethnic meta-analysis with a parallel African American study."; "PMID:25105248", "PMID:37783704"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3f9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2627; "Japanese colorectal cancer cases and controls in the pooled GWAS analysis, after quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "STUDY Cases Controls Total Platform African American GWAS 1,894 4,703 6,597 Illumina 1M/2.5M Japanese GWAS 2,627 3,797 6,424 Illumina 1M/660k" . _:3f9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3797; "Japanese colorectal cancer cases and controls in the pooled GWAS analysis, after quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "STUDY Cases Controls Total Platform African American GWAS 1,894 4,703 6,597 Illumina 1M/2.5M Japanese GWAS 2,627 3,797 6,424 Illumina 1M/660k" . _:3f9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6424; "Japanese colorectal cancer cases and controls in the pooled GWAS analysis, after quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "STUDY Cases Controls Total Platform African American GWAS 1,894 4,703 6,597 Illumina 1M/2.5M Japanese GWAS 2,627 3,797 6,424 Illumina 1M/660k" . _:3f9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MG-JPN"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. MGS_nonGAIN is the second genotyping phase of the Molecular Genetics of Schizophrenia case-control sample ('The remainder of the sample (called “nonGAIN” here) was genotyped in the same laboratory several months later', PMID:19571809). The Catalog's name describes only that phase and is not carried over. Replaced by COHO:0000116 (Molecular Genetics of Schizophrenia Collaboration), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Molecular Genetics of Schizophrenia - nonGAIN Sample"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. MHC is the Mexican Hypertriglyceridemia study (MexHTG) of the BMI GWAS of PMID:40691366, funded by the grant of the Mexican Hypertriglyceride Study (HL-095056). Replaced by COHO:0000734 (Mexican Hypertriglyceride Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Mexican Hypertriglyceridemia cohort"@en; owl:deprecated true . a owl:NamedIndividual; "Identity resolved 2026-09-28: the PGS tag MIAMI-WFPCS denotes the Wake Forest University Prostate Cancer Study (COHO:0002564), as named in the prostate consortium cohort tables. The former institutional expansion is not carried as a cohort name. This deprecated term now has its biological replacement."@en; ; rdfs:comment "Obsoleted 2026-09-24. The University of Miami – Sylvester Comprehensive Cancer Center (MIAMI-WFPCS) is an institution: the PGS Catalog cohort id is the PRACTICAL consortium’s site label for prostate cancer samples of the Sylvester Comprehensive Cancer Center in its African-ancestry analyses, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete The University of Miami – Sylvester Comprehensive Cancer Center"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:20593021"; "A general population study of families in the towns of Renfrew and Paisley in the west of Scotland, in which the locally resident adult offspring, aged 30 to 59, of couples who had taken part in the Renfrew and Paisley general population survey of 1972 to 1976 were surveyed in 1996 by questionnaire, clinical examination, spirometry and blood samples and then followed up for cardiovascular disease and death, to study familial and intergenerational influences on cardiovascular and respiratory health."; 2338; "MIDSPAN", "MIDSPAN Family Study", "MIDSPAN family study", "Midspan family study", "Renfrew-Paisley (Midspan) family study"; rdfs:label "Midspan Family Study"@en . _:3f9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4636631/fullTextXML"; rdfs:comment "The Midspan Family Study is a general population survey of 1477 Caucasian families in Renfrew and Paisley (Scotland), which included 15 402 participants in the first, parental, generation (aged 45–64 years) surveyed between 1972 and 1976." . _:3fa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20593021"; "Which circulating antioxidant vitamins are confounded by socioeconomic deprivation? The MIDSPAN family study."; "PMID:20593021", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20593021+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Socioeconomic and lifestyle measures were available in 1040 men and 1298 women from the MIDSPAN Family Study (30-59 years at baseline) together with circulating levels of vitamins A, C, E, and carotenoids (alpha-carotene, beta-carotene, lutein and lycopene)." . _:3fa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A general population study of families in the towns of Renfrew and Paisley in the west of Scotland, in which the locally resident adult offspring, aged 30 to 59, of couples who had taken part in the Renfrew and Paisley general population survey of 1972 to 1976 were surveyed in 1996 by questionnaire, clinical examination, spirometry and blood samples and then followed up for cardiovascular disease and death, to study familial and intergenerational influences on cardiovascular and respiratory health."; "PMID:10884260", "PMID:12540691", "PMID:23071162", "PMID:26525718"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2338; "adult offspring aged 30-59 surveyed in 1996"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4636631/fullTextXML"; rdfs:comment "In the second generation, 2338 offspring (1040 sons and 1298 daughters) aged 30–59 years were surveyed in 1996 from an eligible population of 3202 offspring aged 30–59 years who lived locally." . _:3fa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIDSPAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18039; , , , , , , , , , , ; , , , , , , ; ; "PGS000012", "PMID:27655226"; "An international consortium of myocardial infarction and coronary artery disease case-control studies, formed for a genome-wide association study of early-onset myocardial infarction (men aged 50 or younger, women 60 or younger) and age- and sex-matched controls from sites in Boston and Seattle in the United States, Sweden, Finland, Spain and Italy, and later extended with further case-control cohorts for exome and gene sequencing studies of coronary artery disease."; 10138; 12395; 22533; "MI Genetics Consortium Study", "MIGen"; ; rdfs:label "Myocardial Infarction Genetics Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18039 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18039; "coronary artery disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Gene sequencing of LPL was performed in 22,533 participants of the Myocardial Infarction Genetics Consortium, including 12,395 controls and 10,138 cases with CAD (Table 1)." . _:3fa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3fa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Studies included the Italian Atherosclerosis Thrombosis and Vascular Biology (ATVB) study,6 the Exome Sequencing Project Early-Onset Myocardial Infarction (ESP-EOMI) study,7 a nested case-control of the Jackson Heart Study (JHS),8 the South German Myocardial Infarction study,9 the Ottawa Heart Study (OHS),10 the Precocious Coronary Artery Disease Study (PROCARDIS),11 the Pakistan Risk of Myocardial Infarction Study (PROMIS),12 the Registre Gironi del COR (Gerona Heart Registry or REGICOR) study,13 the Leicester Myocardial Infarction study,14 and the North German Myocardial Infarction study.15 Clinical data was assessed in each study." . _:3fa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Studies included the Italian Atherosclerosis Thrombosis and Vascular Biology (ATVB) study,6 the Exome Sequencing Project Early-Onset Myocardial Infarction (ESP-EOMI) study,7 a nested case-control of the Jackson Heart Study (JHS),8 the South German Myocardial Infarction study,9 the Ottawa Heart Study (OHS),10 the Precocious Coronary Artery Disease Study (PROCARDIS),11 the Pakistan Risk of Myocardial Infarction Study (PROMIS),12 the Registre Gironi del COR (Gerona Heart Registry or REGICOR) study,13 the Leicester Myocardial Infarction study,14 and the North German Myocardial Infarction study.15 Clinical data was assessed in each study." . _:3fa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3fa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Studies included the Italian Atherosclerosis Thrombosis and Vascular Biology (ATVB) study,6 the Exome Sequencing Project Early-Onset Myocardial Infarction (ESP-EOMI) study,7 a nested case-control of the Jackson Heart Study (JHS),8 the South German Myocardial Infarction study,9 the Ottawa Heart Study (OHS),10 the Precocious Coronary Artery Disease Study (PROCARDIS),11 the Pakistan Risk of Myocardial Infarction Study (PROMIS),12 the Registre Gironi del COR (Gerona Heart Registry or REGICOR) study,13 the Leicester Myocardial Infarction study,14 and the North German Myocardial Infarction study.15 Clinical data was assessed in each study." . _:3faa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3fab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3fac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5314135/supplementaryFiles"; rdfs:comment "The German South cohort includes samples from GerMIFS3 and Munich-MI with MI or CAD." . _:3fad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Studies included the Italian Atherosclerosis Thrombosis and Vascular Biology (ATVB) study,6 the Exome Sequencing Project Early-Onset Myocardial Infarction (ESP-EOMI) study,7 a nested case-control of the Jackson Heart Study (JHS),8 the South German Myocardial Infarction study,9 the Ottawa Heart Study (OHS),10 the Precocious Coronary Artery Disease Study (PROCARDIS),11 the Pakistan Risk of Myocardial Infarction Study (PROMIS),12 the Registre Gironi del COR (Gerona Heart Registry or REGICOR) study,13 the Leicester Myocardial Infarction study,14 and the North German Myocardial Infarction study.15 Clinical data was assessed in each study." . _:3fae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3faf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "The six studies were: i) Italian Atherosclerosis Thrombosis and Vascular Biology (IATVB); ii) Heart Attack Risk in Puget Sound (HARPS); iii) Registre Gironi del COR (Gerona Heart Registry or REGICOR); iv) Massachusetts General Hospital Premature Coronary Artery Disease (MGH PCAD); v) FINRISK; and vi) Malmo Diet and Cancer Study (MDC)." . _:3fb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2681011/unicode"; rdfs:comment "Stage 1 consisted of the Myocardial Infarction Genetics Consortium (MIGen), a collection of 2,967 cases of early-onset MI (in men ≤50 years old or women ≤60 years old) and 3,075 age- and sex-matched controls free of MI from six international sites: Boston and Seattle in the United States as well as Sweden, Finland, Spain, and Italy (Table 1 and Supplementary Methods)." . _:3fb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000012"; "Genomic prediction of coronary heart disease."; "PMID:27655226" . _:3fb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27655226"; "Genomic prediction of coronary heart disease."; "PMID:27655226", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5146693/fullTextXML"; rdfs:comment "The MI Genetics (MIGen) Consortium Study was funded by the National Heart, Lung, and Blood Institute of the United States National Institutes of Health (R01 HL087676)." . _:3fb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of myocardial infarction and coronary artery disease case-control studies, formed for a genome-wide association study of early-onset myocardial infarction (men aged 50 or younger, women 60 or younger) and age- and sex-matched controls from sites in Boston and Seattle in the United States, Sweden, Finland, Spain and Italy, and later extended with further case-control cohorts for exome and gene sequencing studies of coronary artery disease."; "PMID:19198609", "PMID:28267856"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10138; "MIGen ten-cohort LPL sequencing sample in 2017"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Gene sequencing of LPL was performed in 22,533 participants of the Myocardial Infarction Genetics Consortium, including 12,395 controls and 10,138 cases with CAD (Table 1)." . _:3fb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12395; "MIGen ten-cohort LPL sequencing sample in 2017"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Gene sequencing of LPL was performed in 22,533 participants of the Myocardial Infarction Genetics Consortium, including 12,395 controls and 10,138 cases with CAD (Table 1)." . _:3fb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22533; "MIGen ten-cohort LPL sequencing sample in 2017"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5664181/"; rdfs:comment "Gene sequencing of LPL was performed in 22,533 participants of the Myocardial Infarction Genetics Consortium, including 12,395 controls and 10,138 cases with CAD (Table 1)." . _:3fb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIGen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18060; ; "PGS000004", "PMID:36689693"; "A randomized phase III trial of the European Organisation for Research and Treatment of Cancer (EORTC 10041/BIG 3-04) that enrolled women aged 18–70 years with operable early-stage invasive breast cancer and up to three positive lymph nodes at institutions in nine European countries from 2007 to 2011, to test whether the 70-gene signature (MammaPrint), used with clinical-pathological criteria, can select patients for adjuvant chemotherapy."; 6693; "EORTC 10041/BIG 03-04", "EORTC 10041/BIG 3-04", "MINDACT", "Microarray In Node-Negative and 1 to 3 Positive Lymph Node Disease May Avoid Chemotherapy Study", "Microarray in Node-negative Disease May Avoid Chemotherapy"; ; rdfs:label "Microarray in Node-Negative and 1 to 3 Positive Lymph Node Disease May Avoid Chemotherapy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18060 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18060; "early-stage breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27557300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this randomized, phase 3 study, we enrolled 6693 women with early-stage breast cancer and determined their genomic risk (using the 70-gene signature) and their clinical risk (using a modified version of Adjuvant! Online)." . _:3fb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7385160/fullTextXML"; rdfs:comment "Patients were enrolled in 112 participating institutions in nine European countries between February 2007 and September 2011." . _:3fba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival."; "PMID:36689693" . _:3fbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36689693"; "Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival."; "PMID:36689693", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36689693+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Women with invasive breast cancer were included, 98,397 of European ancestry and 12,920 of Asian ancestry, from the Breast Cancer Association Consortium (BCAC), and 683 women from the European MINDACT trial." . _:3fbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized phase III trial of the European Organisation for Research and Treatment of Cancer (EORTC 10041/BIG 3-04) that enrolled women aged 18–70 years with operable early-stage invasive breast cancer and up to three positive lymph nodes at institutions in nine European countries from 2007 to 2011, to test whether the 70-gene signature (MammaPrint), used with clinical-pathological criteria, can select patients for adjuvant chemotherapy."; "PMID:27557300", "PMID:32719399", "PMID:36689693"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6693; "women with early-stage breast cancer enrolled, February 2007 to September 2011 (2007-2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27557300+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this randomized, phase 3 study, we enrolled 6693 women with early-stage breast cancer and determined their genomic risk (using the 70-gene signature) and their clinical risk (using a modified version of Adjuvant! Online)." . _:3fbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MINDACT"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The evidence is a table row (Band et al. 2013 Table S1, https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1003509.s020, a .docx): 'Malawi | Malawi-Liverpool Wellcome Clinical Research Programme, Blantyre | University of Malawi, college of Medicine | CoM REC | Illumina 1.2M'. The PGS Catalog id has no score or sample set in the Catalog today (it is only in the Catalog's cohort table). MLWCRP is the PGS Catalog's id for the site name that Band et al. 2013 (PMID:23717212) give for their Malawi sample: the Malawi-Liverpool Wellcome Clinical Research Programme in Blantyre, the research programme that runs the Malawi severe malaria case-control study. The sample itself is the MalariaGEN partner study already in COHO as 'Human genetic determinants of severe malaria in Malawi' (COHO:0001536), which was minted from the PGS id 'Blantyre' taken from the same paper. So this placeholder is a duplicate of COHO:0001536: add MLWCRP as an acronym and the catalog name as a synonym there, and retire the placeholder (COHO:0002071). Replaced by COHO:0001536 (Human genetic determinants of severe malaria in Malawi), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Malawi-Liverpool Wellcome Clinical Research Programme, Blantyre"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18068; , ; ; "PGS002269", "PMID:21665990"; "A case-control collection for a joint genome-wide association study of age-related macular degeneration, assembled by researchers from the University of Michigan, the Mayo Clinic, the University of Pennsylvania and the Age-Related Eye Disease Study group with National Eye Institute intramural investigators, who contributed patients with advanced macular degeneration (geographic atrophy, neovascularisation or large drusen) and examined unaffected controls enrolled from 1998 through ophthalmology clinics in Michigan, Pennsylvania, Minnesota and Texas and through the Age-Related Eye Disease Study, genotyped together at the Center for Inherited Disease Research."; 2185; 1155; 3340; "Age related Macular Degeneration (AMD)-- Michigan, Mayo, AREDS, Pennsylvania (MMAP) Cohort Study", "Age-related Macular Degeneration-Michigan, Mayo, AREDS and Pennsylvania study", "MMAP", "MMAP Cohort", "MMAP Cohort Study", "Michigan, Mayo, Age-Related Eye Disease Study, Pennsylvania", "Michigan/Mayo Clinic/AREDS/UPENN"; ; rdfs:label "Michigan, Mayo, AREDS, Pennsylvania Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18068 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18068; "age-related macular degeneration"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000182.v3.p1"; rdfs:comment "Affected patients were enrolled primarily from the retina clinic of the Kellogg Eye Center with the help of clinicians and staff." . _:3fc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000182.v3.p1"; rdfs:comment "The Mayo subjects were enrolled from the practices of Dr. Albert Edwards and selected colleagues from Dallas, TX and Rochester, MN starting in 1998." . _:3fc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002269"; "Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data."; "PMID:35149155" . _:3fc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21665990"; "Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration."; "PMID:21665990", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3159552/fullTextXML"; rdfs:comment "We included only MMAP controls and MMAP cases with GA or NV in the analysis; other MMAP subjects with large drusen were excluded." . _:3fc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection for a joint genome-wide association study of age-related macular degeneration, assembled by researchers from the University of Michigan, the Mayo Clinic, the University of Pennsylvania and the Age-Related Eye Disease Study group with National Eye Institute intramural investigators, who contributed patients with advanced macular degeneration (geographic atrophy, neovascularisation or large drusen) and examined unaffected controls enrolled from 1998 through ophthalmology clinics in Michigan, Pennsylvania, Minnesota and Texas and through the Age-Related Eye Disease Study, genotyped together at the Center for Inherited Disease Research."; "PMID:20385819", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000182.v3.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2185; "consented subjects in the dbGaP study (AMD patients and controls genotyped at CIDR)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000182.v3.p1"; rdfs:comment "Study Design: Case-Control Study Type: Case-Control dbGaP estimated ancestry using GRAF-pop Total number of consented subjects: 3340" . _:3fc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1155; "consented subjects in the dbGaP study (AMD patients and controls genotyped at CIDR)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000182.v3.p1"; rdfs:comment "Study Design: Case-Control Study Type: Case-Control dbGaP estimated ancestry using GRAF-pop Total number of consented subjects: 3340" . _:3fc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3340; "consented subjects in the dbGaP study (AMD patients and controls genotyped at CIDR)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000182.v3.p1"; rdfs:comment "Study Design: Case-Control Study Type: Case-Control dbGaP estimated ancestry using GRAF-pop Total number of consented subjects: 3340" . _:3fc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MMAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18078; , ; ; "PGS000793", "PMID:24479488"; "A clinic-based case-control study of ovarian cancer run at the Mayo Clinic in the United States, whose cases are women with ovarian cancer diagnosed from 2000 onwards who attended the Mayo Clinic from a six-state surrounding region, and whose controls are healthy women seeking a general medical examination at the Mayo Clinic, frequency-matched to cases on age and region of residence."; "The acronym MAYO also denotes Mayo Clinic Biobank (COHO:0000401); this term is Mayo Clinic Ovarian Cancer Case-Control Study."@en; 1157; 1096; 2253; "MAY", "MAYO", "MOCS", "Mayo Clinic Ovarian Cancer Case Control Study", "Mayo Clinic Ovarian Cancer Case–Control Study", "Mayo Clinic Ovarian Cancer Study"; ; rdfs:label "Mayo Clinic Ovarian Cancer Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18078 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18078; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24479488+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used 214 cases and 214 age-matched controls from the Mayo Clinic Ovarian Cancer Study." . _:3fc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "MAY Mayo Clinic Ovarian Cancer Case-Control Study United States Cases attending Mayo Clinic diagnosed from 2000 onwards identified in a six- state surrounding region." . _:3fca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000793"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:3fcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24479488"; "Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer."; "PMID:24479488", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24479488+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used 214 cases and 214 age-matched controls from the Mayo Clinic Ovarian Cancer Study." . _:3fcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case-control study of ovarian cancer run at the Mayo Clinic in the United States, whose cases are women with ovarian cancer diagnosed from 2000 onwards who attended the Mayo Clinic from a six-state surrounding region, and whose controls are healthy women seeking a general medical examination at the Mayo Clinic, frequency-matched to cases on age and region of residence."; "PMID:19127255", "PMID:20852632", "PMID:23552324"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1157; "women enrolled December 1999 - May 2012 (cases with ovarian tumours and controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3672269/unicode"; rdfs:comment "A total of 2253 women (1157 cases and 1096 controls) were enrolled as of May 10, 2012." . _:3fce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1096; "women enrolled December 1999 - May 2012 (cases with ovarian tumours and controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3672269/unicode"; rdfs:comment "A total of 2253 women (1157 cases and 1096 controls) were enrolled as of May 10, 2012." . _:3fcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2253; "women enrolled December 1999 - May 2012 (cases with ovarian tumours and controls)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3672269/unicode"; rdfs:comment "A total of 2253 women (1157 cases and 1096 controls) were enrolled as of May 10, 2012." . _:3fd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAY"; . _:3fd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAYO"; . _:3fd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18090; , ; ; "PMID:23935489"; "An HIV surveillance cohort in Modena, Italy, which since 1985 has collected data on new cases of HIV infection in adults, and which contributed to the host genomics studies of the International Collaboration for the Genomics of HIV."; "Modena", "Modena Cohort"; rdfs:label "Modena HIV Surveillance Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18090 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18090; "HIV-1 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "Under the auspices of the International Collaboration for the Genomics of HIV, we have combined the genome-wide single nucleotide polymorphism (SNP) data collected by 25 cohorts, studies, or institutions on HIV-1 infected individuals and compared them to carefully matched population-level data sets" . _:3fd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Modena Cohort in Modena, Italy" . _:3fd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23935489"; "Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls."; "PMID:23935489", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3723635/fullTextXML"; rdfs:comment "The Modena Cohort in Modena, Italy" . _:3fd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An HIV surveillance cohort in Modena, Italy, which since 1985 has collected data on new cases of HIV infection in adults, and which contributed to the host genomics studies of the International Collaboration for the Genomics of HIV."; "PMID:23935489", "https://journals.plos.org/plospathogens/article/file?type=supplementary&id=10.1371/journal.ppat.1003515.s001"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Modena"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18096, _:genid-371333f489424440b12a13b9d98ced822608-genid18098; , ; , ; "PGS000004", "PMID:29058716"; "A study of BRCA1 and BRCA2 mutation carriers in the Czech Republic, run by investigators at the Masaryk Memorial Cancer Institute in Brno and Charles University in Prague with United States collaborators, that contributes carriers' genotype and cancer data to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) for studies of genetic modifiers of breast and ovarian cancer risk."; 106; 68; "MOD-SQUAD", "MODSQUAD", "ModSQuaD"; ; rdfs:label "Modifier Study of Quantitative Effects on Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18096 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18098 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18096; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:3fd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18098; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:3fda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "MODSQUAD | Modifier Study of Quantitative Effects on Disease | CZECH REPUBLIC | | | | 68 | 106" . _:3fdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:3fdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "MODSQUAD | Modifier Study of Quantitative Effects on Disease | CZECH REPUBLIC | | | | 68 | 106" . _:3fdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of BRCA1 and BRCA2 mutation carriers in the Czech Republic, run by investigators at the Masaryk Memorial Cancer Institute in Brno and Charles University in Prague with United States collaborators, that contributes carriers' genotype and cancer data to the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) for studies of genetic modifiers of breast and ovarian cancer risk."; "PMID:23544013", "PMID:29058716", "PMID:32665703"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 106; "BRCA1-carrier iCOGS breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "MODSQUAD | Modifier Study of Quantitative Effects on Disease | CZECH REPUBLIC | | | | 68 | 106" . _:3fdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 68; "BRCA1-carrier iCOGS breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "MODSQUAD | Modifier Study of Quantitative Effects on Disease | CZECH REPUBLIC | | | | 68 | 106" . _:3fe02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOD-SQUAD"; . _:3fe12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MODSQUAD"; . _:3fe22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ModSQuaD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18109; , ; ; "PGS000751", "PMID:28346442"; "A case-control study of epithelial ovarian cancer at the H. Lee Moffitt Cancer Center in Tampa, Florida, United States, drawing on Moffitt's Total Cancer Care protocol, that contributes genotyped cases and controls to the Ovarian Cancer Association Consortium."; "The acronym MOF also denotes Moffitt Prostate Cancer Study (COHO:0002077); this term is Moffitt Cancer Center Ovarian Cancer Study."@en; 341; 413; "MOF"; ; rdfs:label "Moffitt Cancer Center Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18109 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3fe32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18109; "epithelial ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "The OncoArray includes ~533,000 variants (of which 260,660 formed a GWAS backbone) and has been used to genotype over 500,000 samples, including EOC case-control studies of the Ovarian Cancer Association Consortium (OCAC) and BRCA1 and BRCA2 mutation carriers of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)." . _:3fe42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6536963/fullTextXML"; rdfs:comment "The MOF study would like to thank the Total Cancer Care™ Protocol and the Collaborative Data Services and Tissue Core Facilities at the H. Lee Moffitt Cancer Center & Research Institute, an NCI designated Comprehensive Cancer Center, Merck Pharmaceuticals and the state of Florida (MOF)." . _:3fe52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:3fe62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346442"; "Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer."; "PMID:28346442", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "MOF | 413 | 24 | 12 | 12 | | 341 | 0 | 238 | 12 | 28 | 15 | 48" . _:3fe72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of epithelial ovarian cancer at the H. Lee Moffitt Cancer Center in Tampa, Florida, United States, drawing on Moffitt's Total Cancer Care protocol, that contributes genotyped cases and controls to the Ovarian Cancer Association Consortium."; "PMID:20852633", "PMID:28346442", "PMID:31001917"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3fe82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 341; "MOF OncoArray invasive cases and controls in Supplementary Table 1 of the 2017 OCAC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "MOF | 413 | 24 | 12 | 12 | | 341 | 0 | 238 | 12 | 28 | 15 | 48" . _:3fe92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 413; "MOF OncoArray invasive cases and controls in Supplementary Table 1 of the 2017 OCAC GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "MOF | 413 | 24 | 12 | 12 | | 341 | 0 | 238 | 12 | 28 | 15 | 48" . _:3fea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18118; , ; ; "PGS000733", "PMID:33623038"; "A hospital-based case-control study of prostate cancer at the Moffitt Cancer Center in Florida, United States, whose cases are patients of Moffitt Cancer Center clinics and whose controls come from a Moffitt-affiliated lifetime cancer screening centre, contributing genotyped men to prostate cancer genetic studies of the OncoArray project."; "The acronym MOF also denotes Moffitt Cancer Center Ovarian Cancer Study (COHO:0002076); this term is Moffitt Prostate Cancer Study."@en; 668; 385; "MOF", "MOFFITT", "MOFFITT_PC", "Moffitt group", "The Moffitt Group"; ; rdfs:label "Moffitt Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18118 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3feb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18118; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21802122+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In addition, we compared the frequencies of 4 single nucleotide polymorphisms (rs164365, rs1709189, rs1399236, and rs1681096) in SLC5A8 between 668 prostate cancer cases and 385 controls." . _:3fec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "MOFFITT Moffitt Prostate Cancer Study Florida USA Hospital-based" . _:3fed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:3fee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "MOFFITT (n=797) Moffitt Prostate Cancer Study Florida, USA Hospital-based 296 501 268 4 596 9 192 794 0.4863 [0.2998, 0.677] 64.0 [58.7, 69.4] 64.1 [57.3, 71.3]" . _:3fef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of prostate cancer at the Moffitt Cancer Center in Florida, United States, whose cases are patients of Moffitt Cancer Center clinics and whose controls come from a Moffitt-affiliated lifetime cancer screening centre, contributing genotyped men to prostate cancer genetic studies of the OncoArray project."; "PMID:21802122", "PMID:29892016"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ff02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 668; "Moffitt prostate case-control study in the own 2011 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21802122+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In addition, we compared the frequencies of 4 single nucleotide polymorphisms (rs164365, rs1709189, rs1399236, and rs1681096) in SLC5A8 between 668 prostate cancer cases and 385 controls." . _:3ff12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 385; "Moffitt prostate case-control study in the own 2011 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21802122+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In addition, we compared the frequencies of 4 single nucleotide polymorphisms (rs164365, rs1709189, rs1399236, and rs1681096) in SLC5A8 between 668 prostate cancer cases and 385 controls." . _:3ff22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOF"; . _:3ff32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOFFITT"; . _:3ff42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOFFITT_PC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. MOFFITT_PC is the Moffitt Prostate Cancer Study (PMID:29892016), the study the Moffitt group's papers call MOFFITT. Replaced by COHO:0002077 (The Moffitt Group), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Moffitt Prostate Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PMID:20144221"; "An observational study of mammographic density nested within the intervention arm of the Age Trial, a British trial of annual mammographic screening in young women, which from 2000 to 2003 invited cancer-free women of the intervention arm who were still attending screening to give a blood sample and complete a questionnaire on demographic, anthropometric, lifestyle and reproductive characteristics, and enrolled women from 17 screening centres in England and Wales."; 8000; "MOG", "Mammography Oestrogens and Growth Factors Study", "Mammography Oestrogens and Growth Factors study", "Mammography Oestrogens and Growth factors study", "Mammography, Oestrogens and Growth factor study", "Mammography, Oestrogens and Growth factors study"; rdfs:label "Mammography, Oestrogens and Growth Factors study"@en . _:3ff52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2829497/fullTextXML"; rdfs:comment "Over 8,000 women from 17 screening centres in England and Wales were enrolled into the MOG study." . _:3ff62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20144221"; "Mammographic density and markers of socioeconomic status: a cross-sectional study."; "PMID:20144221", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2829497/fullTextXML"; rdfs:comment "The Mammography, Oestrogens and Growth factors (MOG) study is an observational study of mammographic density conducted within the intervention arm of the Age trial of mammographic screening in young women, in which about 54,000 women were randomised to receive yearly mammographic screening from ages 40 to 48 [16]." . _:3ff72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational study of mammographic density nested within the intervention arm of the Age Trial, a British trial of annual mammographic screening in young women, which from 2000 to 2003 invited cancer-free women of the intervention arm who were still attending screening to give a blood sample and complete a questionnaire on demographic, anthropometric, lifestyle and reproductive characteristics, and enrolled women from 17 screening centres in England and Wales."; "PMID:19490643", "PMID:20144221", "PMID:33495599"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ff82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8000; "women enrolled 2000-2003 (a lower bound: 'over 8,000')"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2829497/fullTextXML"; rdfs:comment "Over 8,000 women from 17 screening centres in England and Wales were enrolled into the MOG study." . _:3ff92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18134; , , , ; ; "PMID:32413043"; "A prospective multicentre study of women treated for endometrial cancer (ClinicalTrials.gov NCT00598845), centred on Haukeland University Hospital in Bergen, Norway, that between May 2001 and February 2013 enrolled consenting patients at ten hospitals in Norway, Belgium and Sweden within the European Network for Individualized Treatment of Endometrial Cancer (ENITEC), collecting preoperative curettage or biopsy specimens, tumour tissue, blood and clinical follow-up to study molecular markers of lymph node metastasis and prognosis for preoperative risk stratification."; 1372; "MoMaTEC", "MoMaTEC study", "MoMaTEC1", "Molecular Markers for Treatment of Endometrial Cancer", "Molecular Markers in Treatment in Endometrial Cancer"; rdfs:label "Molecular Markers in Treatment of Endometrial Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18134 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:3ffa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18134; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5542466/fullTextXML"; rdfs:comment "Of the 1372 MoMaTEC patients treated for primary endometrial cancer by hysterectomy and bilateral salpingo-oopherectomy, 1302 patients were included in the final analyses." . _:3ffb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5542466/fullTextXML"; rdfs:comment "We thank all participants involved in recruiting patients at the MoMaTEC centers: Haukeland University Hospital, Bergen, Norway; St." . _:3ffc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32413043"; "Preoperative risk stratification in endometrial cancer (ENDORISK) by a Bayesian network model: A development and validation study."; "PMID:32413043", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32413043+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "External validation was performed using 2 prospective study cohorts: the Molecular Markers in Treatment in Endometrial Cancer (MoMaTEC) study cohort, including 446 Norwegian patients, median age 64 years (IQR 59-74), treated between May 2001 and 2010; and the PIpelle Prospective ENDOmetrial carcinoma (PIPENDO) study cohort, including 384 Dutch patients, median age 66 years (IQR 60-73), treated between September 2011 and December 2013." . _:3ffd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective multicentre study of women treated for endometrial cancer (ClinicalTrials.gov NCT00598845), centred on Haukeland University Hospital in Bergen, Norway, that between May 2001 and February 2013 enrolled consenting patients at ten hospitals in Norway, Belgium and Sweden within the European Network for Individualized Treatment of Endometrial Cancer (ENITEC), collecting preoperative curettage or biopsy specimens, tumour tissue, blood and clinical follow-up to study molecular markers of lymph node metastasis and prognosis for preoperative risk stratification."; "PMID:23932335", "PMID:25897678", "PMID:27135401", "PMID:28771617"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:3ffe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1372; "Consenting MoMaTEC patients included at ten centers, May 2001-February 2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5542466/fullTextXML"; rdfs:comment "After obtaining written informed consent, a total of 1372 patients from 10 centers were included in the MoMaTEC study (Molecular Markers in Treatment of Endometrial Cancer, Clinical Trial Identifier NCT00598845) between May 2001 and February 2013." . _:3fff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MoMaTEC"; . _:40002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MoMaTEC1"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18142; , ; "PGS003405", "PMID:36528340"; "A population-based cross-sectional survey of cardiovascular risk factors in France, in which women and men aged 35 to 74 years were randomly selected from electoral rolls between 2005 and 2007 in three areas: the Lille urban community in northern France, the Bas-Rhin department in eastern France and the Haute-Garonne department in southwestern France."; 4825; "MONA LISA", "MONA LISA Study", "MONA LISA survey", "MONA-LISA", "MOnitoring NAtionaL du rISque Artériel", "Monitoring National du risque Art_rie", "National Monitoring of Arterial Risk"; ; rdfs:label "Monitoring National du Risque Artériel"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18142 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18142; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23527913+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants aged 35 to 74 years (n=4609) were randomly selected from the general population of three French regions. A standardized data collection was performed to assess cardiovascular risk as described in the French and European guidelines." . _:40022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12143755/fullTextXML"; rdfs:comment "Briefly, between 2005 and 2007, women and men aged 35–74 years were randomly selected from electoral rolls in three French regions: Lille urban community in Northern France, Bas-Rhin department in Eastern France, and Haute-Garonne department in Southwestern France." . _:40032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003405"; "A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia."; "PMID:36528340" . _:40042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36528340"; "A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia."; "PMID:36528340", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36528340+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "They were established using two French control cohorts (MONA LISA n=1082 and FranceGenRef n=856)." . _:40052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cross-sectional survey of cardiovascular risk factors in France, in which women and men aged 35 to 74 years were randomly selected from electoral rolls between 2005 and 2007 in three areas: the Lille urban community in northern France, the Bas-Rhin department in eastern France and the Haute-Garonne department in southwestern France."; "PMID:24885863", "PMID:40485857"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4825; "women and men aged 35-74 recruited in the three areas, 2005-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20852444+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Four thousand eight hundred and twenty-five participants were recruited (mean age 55.5 ± 11.3 years)." . _:40072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONA LISA"; . _:40082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONA-LISA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18151; , , ; ; "PGS000327", "PMID:30804558"; "A collection of families of children with autism spectrum disorder, recruited in the Montreal and Quebec City regions of Canada and by investigators of the Autism Consortium of Boston in Massachusetts and surrounding states of the United States, including the Extreme Discordant Sib-Pair family sample. Funded in part by the Autism Consortium of Boston, its parent-offspring trios have been genotyped for autism genome-wide association studies, including those of the Psychiatric Genomics Consortium."; 318; "MONBOS", "MonBos", "MonBos Collection", "Montreal Boston Collection", "Montreal/Boston (MonBos) Collection"; ; rdfs:label "Montreal/Boston Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18151 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18151; "autism spectrum disorders"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2772655/"; rdfs:comment "Subjects diagnosed with autism spectrum disorders with both of their parents were recruited from clinics specializing in the diagnosis of Pervasive Developmental Disorders (PDD), readaptation centers, and specialized schools in the Montreal and Quebec City regions, Canada, as described 31." . _:400a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2772655/"; rdfs:comment "Subjects diagnosed with autism spectrum disorders with both of their parents were recruited from clinics specializing in the diagnosis of Pervasive Developmental Disorders (PDD), readaptation centers, and specialized schools in the Montreal and Quebec City regions, Canada, as described 31." . _:400b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2772655/"; rdfs:comment "Recruitment took place in Massachusetts and surrounding states through contacts with parent support and patient advocacy groups, brochures, newsletters, and the study web site." . _:400c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000327"; "Identification of common genetic risk variants for autism spectrum disorder."; "PMID:30804558" . _:400d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30804558"; "Identification of common genetic risk variants for autism spectrum disorder."; "PMID:30804558", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6454898/unicode"; rdfs:comment "In brief, five cohorts provided genotypes to the sample (N denoting the number of trios for which genotypes were available): The Geschwind Autism Center of Excellence (ACE; N = 391), the Autism Genome Project (AGP; N = 2,272), the Autism Genetic Resource Exchange (AGRE; N = 974), the NIMH Repository, the Montreal/Boston Collection (MONBOS; N = 1,396, and the Simons Simplex Collection(SSC; N = 2,231)." . _:400e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of families of children with autism spectrum disorder, recruited in the Montreal and Quebec City regions of Canada and by investigators of the Autism Consortium of Boston in Massachusetts and surrounding states of the United States, including the Extreme Discordant Sib-Pair family sample. Funded in part by the Autism Consortium of Boston, its parent-offspring trios have been genotyped for autism genome-wide association studies, including those of the Psychiatric Genomics Consortium."; "PMID:19812673", "PMID:28540026", "PMID:30804558"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:400f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 318; "parent-offspring trios (families, not individuals) collected by Autism Consortium investigators and in Montreal with genome-wide data, 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2772655/"; rdfs:comment "First, we utilized additional autism family samples (318 trios collected by investigators of the Autism Consortium and in Montreal) with genome-wide Affymetrix 5.0/500K array data also genotyped at the Genetic Analysis Platform of the Broad Institute using the same conditions, QC, and analysis pipelines (Methods)." . _:40102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MONBOS"; . _:40112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MonBos"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18161, _:genid-371333f489424440b12a13b9d98ced822608-genid18163; , , , , , , , , ; "PMID:24618891"; "A German research consortium, the Integrated Genome Research Network MooDS of the National Genome Research Network plus (NGFNplus), funded by the German Federal Ministry of Education and Research, whose groups collected and genotyped case-control samples for genome-wide association studies of schizophrenia in Germany and of bipolar disorder in Germany and in partner centres in Poland, Russia, Spain, Canada and Australia."; 2266; 5028; "MooDS", "MooDS Consortium", "MooDS consortium"; rdfs:label "Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18161 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18163 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18161; "bipolar disorder"; "https://doi.org/10.1038/ncomms4339"; rdfs:comment "Here we generate new and so far unpublished genome-wide SNP data from 2,266 clinically well-characterized patients with BD (∼76% BD type I) and 5,028 ethnically matched controls, derived from the MooDS (Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia) consortium." . _:40132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18163; "schizophrenia"; "https://doi.org/10.1038/ncomms4339"; rdfs:comment "Here we generate new and so far unpublished genome-wide SNP data from 2,266 clinically well-characterized patients with BD (∼76% BD type I) and 5,028 ethnically matched controls, derived from the MooDS (Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia) consortium." . _:40142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://doi.org/10.1038/ncomms4339"; rdfs:comment "Patients were recruited from consecutive admissions to psychiatric in-patient units at the University Hospital Würzburg (Germany II), at the Central Institute of Mental Health in Mannheim and other collaborating psychiatric hospitals in Germany (Germany III), at the Mood Disorder Unit, Prince of Wales Hospital in Sydney (Australia), at the Department of Psychiatry, Poznan University of Medical Sciences (Poland), at specialty mood disorders clinics in Halifax and Ottawa (Canada), at the Russian State Medical University, Moscow (Russia), and at the Civil Hospital Carlos Haya, Málaga (Spain)." . _:40152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6432650/"; rdfs:comment "These German samples were collected by separate groups within the MooDS Consortium in Mannheim, Bonn, Munich and Jena." . _:40162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24618891"; "Genome-wide association study reveals two new risk loci for bipolar disorder."; "PMID:24618891", "https://doi.org/10.1038/ncomms4339"; rdfs:comment "Here we generate new and so far unpublished genome-wide SNP data from 2,266 clinically well-characterized patients with BD (∼76% BD type I) and 5,028 ethnically matched controls, derived from the MooDS (Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia) consortium." . _:40172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A German research consortium, the Integrated Genome Research Network MooDS of the National Genome Research Network plus (NGFNplus), funded by the German Federal Ministry of Education and Research, whose groups collected and genotyped case-control samples for genome-wide association studies of schizophrenia in Germany and of bipolar disorder in Germany and in partner centres in Poland, Russia, Spain, Canada and Australia."; "PMID:24618891", "PMID:26854805", "PMID:27694991", "PMID:29906448"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2266; "bipolar disorder patients and controls of the seven MooDS samples of the consortium's second wave, analysed in its 2014 GWAS (the German schizophrenia samples and the first bipolar wave not included)"; "https://doi.org/10.1038/ncomms4339"; rdfs:comment "Here we generate new and so far unpublished genome-wide SNP data from 2,266 clinically well-characterized patients with BD (∼76% BD type I) and 5,028 ethnically matched controls, derived from the MooDS (Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia) consortium." . _:40192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5028; "bipolar disorder patients and controls of the seven MooDS samples of the consortium's second wave, analysed in its 2014 GWAS (the German schizophrenia samples and the first bipolar wave not included)"; "https://doi.org/10.1038/ncomms4339"; rdfs:comment "Here we generate new and so far unpublished genome-wide SNP data from 2,266 clinically well-characterized patients with BD (∼76% BD type I) and 5,028 ethnically matched controls, derived from the MooDS (Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia) consortium." . _:401a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MooDS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Moscow is a city: the PGS Catalog cohort id Moscow is a kidney cancer case-control sample listed by city in the renal cell carcinoma genome-wide association study behind PGS000076, PGS000161 and PGS000722, with no study name. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Moscow"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18172; , ; "PMID:38564302"; "A prospective early-life cohort of children with atopic dermatitis at Cincinnati Children's Hospital Medical Center, United States, recruited from late 2016 in the greater Cincinnati area (southwest Ohio and northern Kentucky) through public advertising or medical records, which enrols infants and toddlers with atopic dermatitis (at first aged 1–2 years, later from a few months of age) and follows them for five years with annual visits and extensive biospecimen collection from skin, blood and saliva, to define atopic dermatitis phenotypes and endotypes, the mechanisms of its progression to food allergy, asthma and other allergic disorders, and biomarkers of asthma risk."; 557; "MPAACH", "Mechanisms of Progression from Atopic Dermatitis to Asthma in Children", "Mechanisms of Progression of Atopic Dermatitis to Asthma in CHildren"; rdfs:label "Mechanisms of Progression of Atopic Dermatitis to Asthma in Children"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18172 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:401b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18172; "atopic dermatitis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7338239/"; rdfs:comment "Inclusion criteria were: 1) aged 1–2 years upon enrollment; 2) gestation of ≥36 weeks AND 3) a diagnosis of AD (based on the Hanifin and Rajka Criteria for Atopic Dermatitis(19)), OR the parent(s)/legal authorized representative (LAR) indicates a positive response to each of the 3 questions from the Children’s Eczema Questionnaire (CEQ) (20)." . _:401c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11141906/fullTextXML"; rdfs:comment "MPAACH, the first US prospective longitudinal early-life cohort of children with AD who complete annual visits with extensive biospecimen collection, has been previously described (12)." . _:401d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38564302"; "Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort."; "PMID:38564302", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11141906/fullTextXML"; rdfs:comment "We performed deep sequencing of the FLG gene in 438 individuals from MPAACH, an early-life cohort of children with AD." . _:401e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective early-life cohort of children with atopic dermatitis at Cincinnati Children's Hospital Medical Center, United States, recruited from late 2016 in the greater Cincinnati area (southwest Ohio and northern Kentucky) through public advertising or medical records, which enrols infants and toddlers with atopic dermatitis (at first aged 1–2 years, later from a few months of age) and follows them for five years with annual visits and extensive biospecimen collection from skin, blood and saliva, to define atopic dermatitis phenotypes and endotypes, the mechanisms of its progression to food allergy, asthma and other allergic disorders, and biomarkers of asthma risk."; "PMID:32302785", "PMID:38564302"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:401f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 557; "children with atopic dermatitis recruited by the time of the 2020 design paper (recruitment ongoing)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7338239/"; rdfs:comment "The MPAACH cohort has many strengths including its size (thus far we have recruited 557 participants), rigorous phenotyping of AD, comprehensive biospecimen collection, extensive biomarker determinations, and its longitudinal design." . _:40202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPAACH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18179; , ; ; "PGS000138", "PMID:32231276"; "A case-control sample for major depressive disorder at the Max Planck Institute of Psychiatry in Munich, Germany, whose cases were patients admitted to the institute's hospital for treatment of major depressive disorder and diagnosed by psychiatrists according to DSM-IV criteria, and whose controls were drawn at random from Munich community registries and screened for the absence of any lifetime axis I disorder; it contributed genotypes to the major depressive disorder analyses of the Psychiatric Genomics Consortium."; 376; 537; 913; "MPIP", "MPIP/MARS", "Munich Morphometry Sample"; ; rdfs:label "Max Planck Institute of Psychiatry Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18179 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18179; "major depressive disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864 MDD2000-QIMR_610 1184 433 751 MDD2000-QIMR_317 1977 1017 960 MPIP 913 376 537" . _:40222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3112053/"; rdfs:comment "353 unipolar depressive inpatients (155 males, 198 females) were recruited for the Munich Antidepressant Response Signature (MARS) project (Hennings et al., 2009; Ising et al., 2009) at the Max Planck Institute of Psychiatry (MPIP) in Munich, Germany." . _:40232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000138"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276" . _:40242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32231276"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0594-5/MediaObjects/41588_2020_594_MOESM1_ESM.pdf"; rdfs:comment "MPIP/MARS old mmi2 584 517 1101 1 Yes 291 49.83 MPIP/MARS new mmo4 264 371 635 1 Yes 113 42.80" . _:40252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample for major depressive disorder at the Max Planck Institute of Psychiatry in Munich, Germany, whose cases were patients admitted to the institute's hospital for treatment of major depressive disorder and diagnosed by psychiatrists according to DSM-IV criteria, and whose controls were drawn at random from Munich community registries and screened for the absence of any lifetime axis I disorder; it contributed genotypes to the major depressive disorder analyses of the Psychiatric Genomics Consortium."; "PMID:22472876"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 376; "subjects (MDD cases and controls) of the MPIP sample in the PGC MDD 2013 discovery mega-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864 MDD2000-QIMR_610 1184 433 751 MDD2000-QIMR_317 1977 1017 960 MPIP 913 376 537" . _:40272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 537; "subjects (MDD cases and controls) of the MPIP sample in the PGC MDD 2013 discovery mega-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864 MDD2000-QIMR_610 1184 433 751 MDD2000-QIMR_317 1977 1017 960 MPIP 913 376 537" . _:40282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 913; "subjects (MDD cases and controls) of the MPIP sample in the PGC MDD 2013 discovery mega-analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3837431/"; rdfs:comment "Cases and controls used in discovery and replication phases Phase Sample Subjects MDD case Control Discovery GAIN 3461 1696 1765 GenRED 2283 1030 1253 GSK 1751 887 864 MDD2000-QIMR_610 1184 433 751 MDD2000-QIMR_317 1977 1017 960 MPIP 913 376 537" . _:40292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPIP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18189; , ; ; "PGS005200", "PMID:29892015"; "A nested case-control study of atrial fibrillation within the Malmö Preventive Project in Malmö, Sweden, in which participants with prevalent or incident atrial fibrillation identified from national registers, with DNA from the project's 2002-2006 re-examination, were matched one to one to controls from the same cohort by sex, age and date of baseline examination."; "MPP AF", "MPP-AF", "Malmö Preventive Project atrial fibillation study"; ; rdfs:label "Malmö Preventive Project atrial fibrillation study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18189 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:402a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18189; "atrial fibrillation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "Subjects with prevalent or incident AF were identified from national registers as previously described14 , and cases with DNA were then matched in a 1:1 fashion to controls with DNA from the same cohort by sex, age (±1 year), and date of baseline exam (±1 year)." . _:402b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "MPP: The Malmö Preventive Project (MPP) was a community-based disease prevention program including 33 346 inhabitants from the city of Malmö in Southern Sweden." . _:402c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "Subjects with prevalent or incident AF were identified from national registers as previously described14 , and cases with DNA were then matched in a 1:1 fashion to controls with DNA from the same cohort by sex, age (±1 year), and date of baseline exam (±1 year)." . _:402d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:402e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Malmö Preventive Project (MPP) was a community-based disease prevention program including 33 346 inhabitants from the city of Malmö in Southern Sweden. Complete birth cohorts between 1921-1949 were invited, and the participation rate was 71%. Participants underwent screening between 1974 to 1992 for cardiovascular risk factors, alcohol abuse, and breast cancer. Between 2002-2006, surviving participants were invited to a reexamination which included blood sampling13 from which DNA has been extracted. Subjects with prevalent or incident AF were identified from national registers as previously described14 , and cases with DNA were then matched in a 1:1 fashion to controls with DNA from the same cohort by sex, age (±1 year), and date of baseline exam (±1 year)." . _:402f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nested case-control study of atrial fibrillation within the Malmö Preventive Project in Malmö, Sweden, in which participants with prevalent or incident atrial fibrillation identified from national registers, with DNA from the project's 2002-2006 re-examination, were matched one to one to controls from the same cohort by sex, age and date of baseline examination."; "PMID:29892015"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPP-AF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18197, _:genid-371333f489424440b12a13b9d98ced822608-genid18199; , ; ; "PGS005203", "PMID:40691366"; "An echocardiography study within the 2002-2006 re-examination of the Malmö Preventive Project in Malmö, Sweden, in which a subsample of re-examined participants, randomly selected from groups defined by glucometabolic status with impaired fasting glucose and diabetes oversampled, underwent echocardiography."; 1792; "MPP Echo", "MPP-Echo", "MPP-RES UCG", "MPP-echo", "Malmö Preventive Project-Re-examination Study UCG", "Malmö Preventive Project-Re-examination echocardiography study"; ; rdfs:label "Malmö Preventive Project echo study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18197 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18197; "diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7083427/fullTextXML"; rdfs:comment "These subjects were randomly selected from groups defined by glucometabolic status: normal fasting plasma glucose (FPG) (≤6.0 mmol/L); impaired FPG; new‐onset Type 2 diabetes mellitus; and prevalent diabetes mellitus." . _:40322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18199; "Type 2 diabetes mellitus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7083427/fullTextXML"; rdfs:comment "These subjects were randomly selected from groups defined by glucometabolic status: normal fasting plasma glucose (FPG) (≤6.0 mmol/L); impaired FPG; new‐onset Type 2 diabetes mellitus; and prevalent diabetes mellitus." . _:40332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7083427/fullTextXML"; rdfs:comment "Between 1974 and 1992, birth cohorts (men born in 1921, 1926–42, 1944, 1946, and 1948‐49; women born in 1926, 1928, 1930–36, 1938, 1941–42, and 1949) of inhabitants residing in Malmö, Sweden, were invited to participate in a large cohort study The Malmö Preventive Project (MPP) with a total of 33 346 participants (67% men, attendance rate 71%, mean age 46 ± 7 years)." . _:40342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7083427/fullTextXML"; rdfs:comment "Hence, our aim in this observational study was to investigate SNPs with documented association with diabetes and their further association with one of the earliest signs of left ventricular dysfunction (i.e. diastolic dysfunction) in two independent Swedish population UCG cohorts: the population‐based Malmö Preventive Project‐Re‐examination Study UCG (MPP‐RES UCG) and the VARA UCG." . _:40352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:40362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "Broad Bayer MPP-echo | The Malmö Preventive Project echo study | EUR" . _:40372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An echocardiography study within the 2002-2006 re-examination of the Malmö Preventive Project in Malmö, Sweden, in which a subsample of re-examined participants, randomly selected from groups defined by glucometabolic status with impaired fasting glucose and diabetes oversampled, underwent echocardiography."; "PMID:31860786"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1792; "re-examined MPP participants who had echocardiography, 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7083427/fullTextXML"; rdfs:comment "In a subsample of 1792 participants, UCG recordings were carried out." . _:40392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPP-RES UCG"; . _:403a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPP-echo"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18209; , ; ; "PGS000037", "PMID:20860503"; "A United Kingdom case-control panel for asthma genome-wide association studies, combining childhood-onset asthma cases from the MRCA panel of British nuclear families ascertained through a child with asthma with United Kingdom control subjects."; 177; 399; "MRCA-UK", "MRCA-UKC", "Medical Research Council-funded Collection of Nuclear Families with Asthma"; ; rdfs:label "MRC Asthma and United Kingdom Control panel"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18209 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:403b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18209; "asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "MRCA‐UK: is a collection of nuclear families (207 families total number of subjects 783) ascertained throughaprobandwith≥Step3asthmaaccordingtoBritishThoracicSocietyguidelines76 andfourhundred and thirty seven non‐asthmatic UK controls (UK‐C)77 ." . _:403c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC4260321"; rdfs:comment "MRCA-UKC United Kingdom 177 177 (62) — 399 399 (29) —" . _:403d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:403e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20860503"; "A large-scale, consortium-based genomewide association study of asthma."; "PMID:20860503", "https://europepmc.org/api/getPdf?pmcid=PMC4260321"; rdfs:comment "Alt Fq denotes alternative allele frequency, CI confidence interval, and Ref reference allele. † The nominal gene was taken from the Illumina SNP database. ‡ Position is based on the number of base pairs from the start of the chromosome. § The rs3771166 SNP was imputed in the MRC Asthma and United Kingdom Control panel (MRCA-UKC) and in the Multicenter Asthma Genetics in Childhood Study (MAGICS) panel." . _:403f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United Kingdom case-control panel for asthma genome-wide association studies, combining childhood-onset asthma cases from the MRCA panel of British nuclear families ascertained through a child with asthma with United Kingdom control subjects."; "PMID:20860503", "PMID:23345460"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 177; "childhood-onset asthma cases and UK controls genotyped and passing QC in the GABRIEL GWAS (analysed panel), 2010 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4260321/"; rdfs:comment "MRCA-UKC United Kingdom 177 177 (62) — 399 399 (29) —" . _:40412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 399; "childhood-onset asthma cases and UK controls genotyped and passing QC in the GABRIEL GWAS (analysed panel), 2010 report"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4260321/"; rdfs:comment "MRCA-UKC United Kingdom 177 177 (62) — 399 399 (29) —" . _:40422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRCA-UK"; . _:40432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MRCA-UKC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Medical Research Council Unit, The Gambia (MRCUTG) is an institution, and the PGS Catalog’s metadata tables list no sample for the id. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Medical Research Council Unit, The Gambia"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18219; , ; ; "PMID:35922517"; "A COVID-19 host genetics case–control study of the Mount Sinai Health System, contributed to the COVID-19 Host Genetics Initiative, that compares participants with reported SARS-CoV-2 infection with controls, under the review of the Mount Sinai Program for the Protection of Human Subjects; its participants, of European, African and admixed American ancestry, were genotyped on the Global Diversity Array or the Global Screening Array."; "MSHS-CGI"; rdfs:label "Mount Sinai Health System COVID-19 Genomics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18219 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18219; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674144/fullTextXML"; rdfs:comment "Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries." . _:40452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9632827/fullTextXML"; rdfs:comment "During the height of the SARS-CoV-2 pandemic in New York City, all patients admitted to the Mount Sinai Health System were made aware of the research study by a notice included in their admission paperwork." . _:40462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35922517"; "A first update on mapping the human genetic architecture of COVID-19."; "PMID:35922517", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9352569/fullTextXML"; rdfs:comment "Mount Sinai Health System COVID-19 Genomics Initiative data collection lead" . _:40472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A COVID-19 host genetics case–control study of the Mount Sinai Health System, contributed to the COVID-19 Host Genetics Initiative, that compares participants with reported SARS-CoV-2 infection with controls, under the review of the Mount Sinai Program for the Protection of Human Subjects; its participants, of European, African and admixed American ancestry, were genotyped on the Global Diversity Array or the Global Screening Array."; "PMID:34237774", "PMID:37674002"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSHS-CGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18225; , ; "PGS004241", "PMID:19648920"; "A hospital-based case-control study of bladder cancer at Memorial Sloan Kettering Cancer Center in New York, United States, whose cases and controls have been genotyped in bladder cancer susceptibility studies."; "The acronym MSKCC also denotes Memorial Sloan Kettering Lung Cancer GWAS (COHO:0002093); this term is Memorial Sloan Kettering Bladder Cancer Study."@en; 149; 152; "MSKBCS", "MSKCC"; ; rdfs:label "Memorial Sloan Kettering Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18225 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18225; "bladder cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.421/MediaObjects/41588_2009_BFng421_MOESM5_ESM.pdf"; rdfs:comment "MSKCC 149 152 53(17-84) 82 77 87 44 Hospital-based" . _:404a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.421/MediaObjects/41588_2009_BFng421_MOESM5_ESM.pdf"; rdfs:comment "U.S. validation Texas 764 2807 60(18-98) 81 52 73 75 Hospital-based New Hampshire 800 912 62(25-74) 76 62 83 66 Population-based MSKCC 149 152 53(17-84) 82 77 87 44 Hospital-based" . _:404b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004241"; "Potential utility of risk stratification for multicancer screening with liquid biopsy tests."; "PMID:37087533" . _:404c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19648920"; "Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer."; "PMID:19648920", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.421/MediaObjects/41588_2009_BFng421_MOESM5_ESM.pdf"; rdfs:comment "MSKCC 149 152 53(17-84) 82 77 87 44 Hospital-based" . _:404d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer at Memorial Sloan Kettering Cancer Center in New York, United States, whose cases and controls have been genotyped in bladder cancer susceptibility studies."; "PMID:19648920"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:404e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 149; "bladder cancer cases and controls of the MSKCC group in the 2009 U.S. validation set"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.421/MediaObjects/41588_2009_BFng421_MOESM5_ESM.pdf"; rdfs:comment "MSKCC 149 152 53(17-84) 82 77 87 44 Hospital-based" . _:404f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 152; "bladder cancer cases and controls of the MSKCC group in the 2009 U.S. validation set"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.421/MediaObjects/41588_2009_BFng421_MOESM5_ESM.pdf"; rdfs:comment "MSKCC 149 152 53(17-84) 82 77 87 44 Hospital-based" . _:40502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSKBCS"; . _:40512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSKCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18235; "PGS000740", "PMID:26363033"; "A hospital-based lung cancer genome-wide association study at Memorial Sloan Kettering Cancer Center, whose participants were all never smokers, pooled with other lung cancer genome-wide association studies in analyses of the Transdisciplinary Research in Cancer of the Lung (TRICL) team and the International Lung Cancer Consortium (ILCCO)."; "The acronym MSKCC also denotes Memorial Sloan Kettering Bladder Cancer Study (COHO:0002092); this term is Memorial Sloan Kettering Lung Cancer GWAS."@en; 52; "MSKCC", "MSKLCG", "Memorial Sloan Kettering Cancer Center (MSKCC) study"; ; rdfs:label "Memorial Sloan Kettering Lung Cancer GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18235 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18235; "lung cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC4635669"; rdfs:comment "the Memorial Sloan Kettering Lung Cancer GWAS (30) and the Mayo lung cancer GWAS (31)." . _:40532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:40542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26363033"; "Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia."; "PMID:26363033", "https://europepmc.org/api/getPdf?pmcid=PMC4635669"; rdfs:comment "cancer study (21); the Helmholtz-Gemeinschaft Deutscher Forschungszentren lung cancer GWAS (22); the lung cancer study from Canada (Lunenfeld- Tanenbaum Research Institute (LTRI) and University of Toronto) (23); the Harvard lung cancer study (24); NCI lung cancer GWAS including the Environment and Genetics in Lung Cancer Etiology (EAGLE) GWAS (25), the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study (ATBC) GWAS (26), the Prostate, Lung, Colon, Ovary Screening Trial (PLCO) (27), lung cancer GWAS and the Cancer Prevention Study II Nutrition Cohort (CPS-II) GWAS (28); the IARC lung cancer GWAS (29); the Memorial Sloan Kettering Lung Cancer GWAS (30) and the Mayo lung cancer GWAS (31)." . _:40552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based lung cancer genome-wide association study at Memorial Sloan Kettering Cancer Center, whose participants were all never smokers, pooled with other lung cancer genome-wide association studies in analyses of the Transdisciplinary Research in Cancer of the Lung (TRICL) team and the International Lung Cancer Consortium (ILCCO)."; "PMID:26363033"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 52; "controls of the MSKCC GWAS in the 2015 TRICL/ILCCO pooled histology analysis (cases given only by histology)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4635669/"; rdfs:comment "MSKCC Hospital based HumanHap 317K 52 5c 63 1c" . _:40572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSKCC"; . _:40582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSKLCG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18243, _:genid-371333f489424440b12a13b9d98ced822608-genid18245; , , ; "PMID:38846307"; "The women's arm of the Mr. Osteoporosis and Ms. Osteoporosis Study in Hong Kong: a prospective cohort of community-dwelling Chinese women aged 65 years or older in Hong Kong, recruited in 2001–2003 in a sample stratified by age group, whose osteoporotic hip, spine and vertebral fractures have been followed up for about two decades, with other outcomes of ageing such as diet, cognition and mortality studied in the same cohort."; 2000; "Ms. OS", "Ms. OS Hong Kong", "MsOS", "MsOS (Hong Kong)", "Osteoporotic Fractures in Women Study"; rdfs:label "Ms. OS (Hong Kong)"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18243 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18245 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18243; "sarcopenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12526030/fullTextXML"; rdfs:comment "It was initially aimed to investigate osteoporosis, sarcopenia, and other aging-related health outcomes, and through multiple follow-ups has become an important resource for geriatric research." . _:405a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18245; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12526030/fullTextXML"; rdfs:comment "It was initially aimed to investigate osteoporosis, sarcopenia, and other aging-related health outcomes, and through multiple follow-ups has become an important resource for geriatric research." . _:405b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12526030/fullTextXML"; rdfs:comment "The Mr. OS and Ms. OS cohort study recruited 2000 men and 2000 women aged 65 or above living in the Hong Kong community between 2001 and 2003 [22]." . _:405c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38846307"; "For older women, the majority of hip fragility fractures and radiographic vertebral fragility fractures occur among the densitometrically osteoporotic population: a literature analysis."; "PMID:38846307", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11151245/fullTextXML"; rdfs:comment "In our osteoporotic fractures in women (MsOS) Hong Kong study [materials see (33), T-scores re-calculated with local Hong Kong women BMD reference], 1,900 Chinese women were followed up for 8.82±1.49 years, and 69 hip fractur were recorded." . _:405d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The women's arm of the Mr. Osteoporosis and Ms. Osteoporosis Study in Hong Kong: a prospective cohort of community-dwelling Chinese women aged 65 years or older in Hong Kong, recruited in 2001–2003 in a sample stratified by age group, whose osteoporotic hip, spine and vertebral fractures have been followed up for about two decades, with other outcomes of ageing such as diet, cognition and mortality studied in the same cohort."; "PMID:33159570", "PMID:35284274", "PMID:36235568", "PMID:36915360", "PMID:38846307", "PMID:41097147"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:405e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "community-dwelling Chinese women aged 65 or over recruited at baseline (the women's arm of the joint study), 2001-2003"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8899940/"; rdfs:comment "For the MrOS (Hong Kong) and MsOS (Hong Kong) baseline (BL) studies, community-dwelling 2,000 Chinese men (mean age: 72.3 years) and 2,000 Chinese women (mean age: 72.5 years) were recruited from 2001 to 2003." . _:405f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ms. OS"; . _:40602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MsOS"; . a owl:NamedIndividual, ; , ; ; "PGS000349", "PMID:28209224"; "A cohort of women who attended mammography screening in Västerbotten, Sweden, between 1995 and 2006 and gave blood samples and brief questionnaire data on reproductive factors at the mammography centre, many at repeated screening visits; one of the three sub-cohorts of the Northern Sweden Health and Disease Study."; 28822; "MSP", "Mammography Screening Project in Vasterbotten", "Northern Sweden Mammography Screening Project"; ; rdfs:label "Mammography Screening Project"@en . _:40612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11790227/fullTextXML"; rdfs:comment "The NSHDS is a population-based prospective longitudinal cohort comprising >140 000 participants in the two northernmost regions in Sweden, Norrbotten and Västerbotten, with >240 000 blood samples and 1.5 million person-years of follow-up." . _:40622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11790227/fullTextXML"; rdfs:comment "The NSHDS includes three sub-cohorts: the Västerbotten Intervention Programme (VIP), the expanded Northern Sweden Monitoring of Trends and Determinants of Cardiovascular Disease (MONICA) Study, and the Mammography Screening Project (MSP)." . _:40632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000349"; "Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study."; "PMID:32912153" . _:40642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28209224"; "Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease."; "PMID:28209224", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5314135/supplementaryFiles"; rdfs:comment "Cases of MI occurring in participants from Vasterbotten Intervention Program (VIP), WHO’s Multinational Monitoring of Trends and Determinants in Cardiovascular Disease (MONICA) study in northern Sweden and the Mammography Screening Project (MSP) in Vasterbotten" . _:40652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women who attended mammography screening in Västerbotten, Sweden, between 1995 and 2006 and gave blood samples and brief questionnaire data on reproductive factors at the mammography centre, many at repeated screening visits; one of the three sub-cohorts of the Northern Sweden Health and Disease Study."; "PMID:39899988"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 28822; "women enrolled in the MSP sub-cohort of the NSHDS (as of May 2020)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11790227/"; rdfs:comment "Selected characteristics of the NSHDS participants by subcohort Characteristic Full cohort Subcohorts NSHDS VIP MONICA MSP Participants, n (%) All 141 910a 127 069 12 298 28 822" . _:40672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18260, _:genid-371333f489424440b12a13b9d98ced822608-genid18262; , ; "PMID:17164261"; "A family-based genetic study of nicotine dependence in which African American and European American smoker probands (aged at least 21, smoking at least 20 cigarettes a day for the preceding year and for at least five years) were recruited in the Mid-South states of the United States, primarily Tennessee, Mississippi and Arkansas, in 1999–2004, together with their biological parents and full siblings, with nicotine dependence assessed by smoking quantity, the Heaviness of Smoking Index and the Fagerström Test for Nicotine Dependence, for linkage and association studies of nicotine dependence."; 2037; "MSTF", "Mid-South Tobacco Family cohort", "Mid-South Tobacco Family sample"; rdfs:label "Mid-South Tobacco Family"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18260 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18260; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2739294/fullTextXML"; rdfs:comment "Proband smokers were required to be at least 21 years old, to have smoked for at least the last five years, and to have consumed at least 20 cigarettes per day for the preceding 12 months." . _:40692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18262; "nicotine dependence"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1592559/"; rdfs:comment "Once a proband and a full sibling who was also nicotine dependent (for most of our families) were identified, additional siblings and biological parents were recruited whenever possible, regardless of their smoking status." . _:406a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2739294/fullTextXML"; rdfs:comment "The AA and EA participants were recruited from the US Mid-South States during 1999–2004 [10], [12], [18]." . _:406b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17164261"; "Fine mapping of a linkage region on chromosome 17p13 reveals that GABARAP and DLG4 are associated with vulnerability to nicotine dependence in European-Americans."; "PMID:17164261", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17164261+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants were 2037 subjects from 602 nuclear families of either African-American (AA) or European-American (EA) origin from our Mid-South Tobacco Family (MSTF) cohort." . _:406c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based genetic study of nicotine dependence in which African American and European American smoker probands (aged at least 21, smoking at least 20 cigarettes a day for the preceding year and for at least five years) were recruited in the Mid-South states of the United States, primarily Tennessee, Mississippi and Arkansas, in 1999–2004, together with their biological parents and full siblings, with nicotine dependence assessed by smoking quantity, the Heaviness of Smoking Index and the Fagerström Test for Nicotine Dependence, for linkage and association studies of nicotine dependence."; "PMID:16960812", "PMID:17164261", "PMID:17579606", "PMID:19763258"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:406d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2037; "participants (smoker probands, siblings and parents) from 602 African American and European American nuclear families (1999-2004)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18354387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined 16 single nucleotide polymorphisms (SNPs) at DRD2 and 7 SNPs at ANKK1 in our Mid-South Tobacco Family cohort, which consisted of 2037 participants representing two distinct American populations." . _:406e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSTF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18269; , ; ; "PGS001778", "PMID:32424353"; "A population-based case-control study of breast cancer in Montreal, Canada, whose cases were postmenopausal women aged 47 to 75 years living in Montreal with a first primary invasive breast cancer, identified from 2007 to 2010 in 15 of the 16 Montreal hospitals that treat breast cancer, and whose controls were a random sample of women living in Montreal from the provincial voter registration list, frequency-matched to cases on age; a member study of the Breast Cancer Association Consortium."; 366; 183; "MTLGEBCS"; ; rdfs:label "Montreal Gene-Environment Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18269 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:406f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18269; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MTLGEBCS Montreal Gene-Environment Breast Cancer Study Population-based case-control study Canada 183 366 29 44 0 0" . _:40702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MTLGEBCS Montreal Gene-Environment Breast Cancer Study Population-based case-control study Canada 183 366 29 44 0 0" . _:40712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:40722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:40732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer in Montreal, Canada, whose cases were postmenopausal women aged 47 to 75 years living in Montreal with a first primary invasive breast cancer, identified from 2007 to 2010 in 15 of the 16 Montreal hospitals that treat breast cancer, and whose controls were a random sample of women living in Montreal from the provincial voter registration list, frequency-matched to cases on age; a member study of the Breast Cancer Association Consortium."; "PMID:23535729", "PMID:29059683"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 366; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MTLGEBCS Montreal Gene-Environment Breast Cancer Study Population-based case-control study Canada 183 366 29 44 0 0" . _:40752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 183; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "MTLGEBCS Montreal Gene-Environment Breast Cancer Study Population-based case-control study Canada 183 366 29 44 0 0" . _:40762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTLGEBCS"; . a owl:NamedIndividual, ; , ; ; "PMID:9108705"; "A birth-record-based registry of twins born in Minnesota, United States, identified from Minnesota State birth certificates and enrolled by mailed questionnaires together with their parents, spouses, siblings and children, covering twins born 1904–1934, 1936–1955 and 1961–1964 who were assessed in middle and older adulthood, with subsets later assessed in person, as one of the studies of the Minnesota Center for Twin and Family Research."; "The acronym MTR also denotes Murcia Twin Registry (COHO:0001106); this term is Minnesota Twin Family Registry."@en; 11198; "MTR", "Minnesota Twin Registry"; rdfs:label "Minnesota Twin Family Registry"@en . _:40772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7056536/unicode"; rdfs:comment "MTR twins were identified from Minnesota State birth certificates, which are publically available." . _:40782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:9108705"; "Sex differences and nonadditivity in heritability of the Multidimensional Personality Questionnaire Scales."; "PMID:9108705", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9108705+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A sex-limitation model was applied to the Multidimensional Personality Questionnaire (MPQ) data from the Minnesota Twin Family Registry." . _:40792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A birth-record-based registry of twins born in Minnesota, United States, identified from Minnesota State birth certificates and enrolled by mailed questionnaires together with their parents, spouses, siblings and children, covering twins born 1904–1934, 1936–1955 and 1961–1964 who were assessed in middle and older adulthood, with subsets later assessed in person, as one of the studies of the Minnesota Center for Twin and Family Research."; "PMID:2392892", "PMID:31796137", "PMID:9108705"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:407a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11198; "MTR participants as the MCTFR overview table states them ('Twins and their parents, spouses, siblings, & children'), 2019"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7056536/"; rdfs:comment "Overview of Established MCTFR Cohorts Cohort Participants Birth yearsa Ageb Key constructs Assessment methods MTR Twins and their parents, spouses, siblings, & children (11,198) 1904–1934 (1802) 1936–1955 (8614) 1961–1964 (782)" . _:407b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18283; , ; ; "PGS000349", "PMID:28209224"; "A case-control study of early-onset myocardial infarction recruited at the German Heart Center in Munich, Germany, with cases who had a myocardial infarction before age 41 (men) or 56 (women) and controls from German population studies without myocardial infarction or coronary artery disease over age 65 (men) or 75 (women), exome-sequenced in the Myocardial Infarction Genetics Exome Sequencing Consortium to find genetic contributors to early myocardial infarction."; "Munich MI", "Munich Myocardial Infarction Registry", "Munich-MI", "Munich_MI", "Myocardial Infarction Genetics Exome Sequencing Consortium: German Heart Center in Munich"; ; rdfs:label "Munich-MI study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18283 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:407c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18283; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5314135/supplementaryFiles"; rdfs:comment "The German South cohort includes samples from GerMIFS3 and Munich-MI with MI or CAD." . _:407d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5314135/supplementaryFiles"; rdfs:comment "German CAD South | | The German South cohort includes samples from GerMIFS3 and Munich-MI with MI or CAD. | Controls were derived from population-based studies in Germany. | 5,255 | 2,921 | 29,30" . _:407e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000349"; "Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study."; "PMID:32912153" . _:407f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28209224"; "Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease."; "PMID:28209224", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5314135/supplementaryFiles"; rdfs:comment "The German South cohort includes samples from GerMIFS3 and Munich-MI with MI or CAD." . _:40802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of early-onset myocardial infarction recruited at the German Heart Center in Munich, Germany, with cases who had a myocardial infarction before age 41 (men) or 56 (women) and controls from German population studies without myocardial infarction or coronary artery disease over age 65 (men) or 75 (women), exome-sequenced in the Myocardial Infarction Genetics Exome Sequencing Consortium to find genetic contributors to early myocardial infarction."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000916.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Munich MI"; . _:40822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Munich-MI"; . _:40832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Munich_MI"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. MUV is the PGS Catalog's id for the BRCA1 and BRCA2 mutation carriers that the Medical University of Vienna (Department of Obstetrics and Gynaecology, General Hospital Vienna) contributed to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA, COHO:0000901). CIMBA itself names this study only 'General Hospital Vienna' (PMID:28346442 Supplementary Table 1; PMID:32665703 supplement), so it is a centre's unnamed set of carriers, not a named cohort. It is a site of CIMBA, like OUH and OSUCCG, which the review already marked as not cohorts. Not to be confused with DNMUV (COHO:0001672, Department of Neurology, Medical University of Vienna). Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Medical University of Vienna"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. MXB is the Mexican Biobank (MXBB), the training sample of the PGS Catalog score it is recorded in (PMID:37148359). Replaced by COHO:0000114 (Mexican Biobank), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete MXB"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18292; , , ; ; "PMID:32193507"; "A genetic study of myopia at the Hong Kong Polytechnic University, which recruited unrelated adults of Chinese descent aged 18 to 45 years through the university's Optometry Clinic, excluding people with signs of ocular disorders or of inherited disorders associated with myopia, measured their refraction by cycloplegic autorefraction together with corneal curvature, lens thickness and axial length, and genotyped them genome-wide; it is a member study of the Consortium for Refractive Error and Myopia (CREAM)."; "MyGS", "Myopia Genomics Study", "Myopia Genomics Study (Hong Kong HTI)", "The Myopia Genomics Study"; rdfs:label "Myopia Genomics Study of Hong Kong"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18292 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18292; "high myopia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3093386/fullTextXML"; rdfs:comment "In an initial association study, 600 unrelated Southern Han Chinese subjects (Group 1) were recruited: 300 cases of high myopes with spherical equivalent (SE) ≤−8.00 D in both eyes, and 300 emmetropic controls with SE within ±1.00 D in both eyes." . _:40852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs42003-020-0802-y/MediaObjects/42003_2020_802_MOESM1_ESM.pdf"; rdfs:comment "For the Myopia Genomics Study of Hong Kong, unrelated individuals of Chinese descent aged between 18 and 45 years were recruited via the Optometry Clinic at the Hong Kong Polytechnic University with details as described previously23-25 ." . _:40862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32193507"; "Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error."; "PMID:32193507", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs42003-020-0802-y/MediaObjects/42003_2020_802_MOESM1_ESM.pdf"; rdfs:comment "Hong Kong Study (Myopia Genomics Study of Hong Kong) was supported by grants from the Hong Kong Polytechnic University (J-BB7P, G-YBK2, G-YBPJ and 99QP) and the Research Grant Council of Hong Kong (B-Q33T and B-Q45J)." . _:40872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of myopia at the Hong Kong Polytechnic University, which recruited unrelated adults of Chinese descent aged 18 to 45 years through the university's Optometry Clinic, excluding people with signs of ocular disorders or of inherited disorders associated with myopia, measured their refraction by cycloplegic autorefraction together with corneal curvature, lens thickness and axial length, and genotyped them genome-wide; it is a member study of the Consortium for Refractive Error and Myopia (CREAM)."; "PMID:24144296", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs42003-020-0802-y/MediaObjects/42003_2020_802_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MyGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18298, _:genid-371333f489424440b12a13b9d98ced822608-genid18300, _:genid-371333f489424440b12a13b9d98ced822608-genid18302; , , ; ; "PMID:42013351"; "A single-centre, hospital-based case cohort of women with ovarian, fallopian tube or primary peritoneal cancer in Malaysia, recruited consecutively at a private hospital from October 2008 to February 2015 and tested for germline variants in BRCA1 and BRCA2; it takes part in the Ovarian Cancer Association Consortium under the study code MAS."; "The acronym MAS also denotes German Multicenter Allergy Study (COHO:0001178) and Sydney Memory and Ageing Study (COHO:0002033); this term is Malaysian Ovarian Cancer Genetic Study."@en; 218; "MAS", "Malaysia Ovarian Cancer Genetic Study", "Malaysia Ovarian Cancer Study", "MyOvCa"; rdfs:label "Malaysian Ovarian Cancer Genetic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18298 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18300 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18302 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18298; "fallopian tube cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7619263/fullTextXML"; rdfs:comment "The study participants included women clinically diagnosed with ovarian, fallopian, or primary peritoneal cancer, recruited from two cohorts:" . _:408a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18300; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7619263/fullTextXML"; rdfs:comment "The study participants included women clinically diagnosed with ovarian, fallopian, or primary peritoneal cancer, recruited from two cohorts:" . _:408b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18302; "primary peritoneal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7619263/fullTextXML"; rdfs:comment "The study participants included women clinically diagnosed with ovarian, fallopian, or primary peritoneal cancer, recruited from two cohorts:" . _:408c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26541979+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this study, we determined the frequency of germline alterations in BRCA1 and BRCA2 in ovarian cancer patients from a multi-ethnic cross-sectional cohort of Asian ovarian cancer patients from Malaysia." . _:408d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42013351"; "BRCA Testing in Asian Patients with Ovarian Cancer: Standard Clinical Practice or Mutation Prediction Model?"; "PMID:42013351", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7619263/fullTextXML"; rdfs:comment "The Malaysian Ovarian Cancer Genetic (MyOvCa) study, a single-centre hospital-based case cohort where consecutive cases from a private hospital were recruited between October 2008 and February 2015 (3)" . _:408e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre, hospital-based case cohort of women with ovarian, fallopian tube or primary peritoneal cancer in Malaysia, recruited consecutively at a private hospital from October 2008 to February 2015 and tested for germline variants in BRCA1 and BRCA2; it takes part in the Ovarian Cancer Association Consortium under the study code MAS."; "PMID:26541979", "PMID:30054336", "PMID:42013351", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:408f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 218; "MyOvCa women with invasive epithelial ovarian cancer tested in the founding cohort report (2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26541979+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From October 2008 to February 2015, we established a hospital-based cohort of ovarian cancer patients and the germline status of all 218 women with invasive epithelial ovarian cancer was tested using targeted amplification and sequencing of the intron-exon junctions and exonic sequences of BRCA1, BRCA2, PALB2 and TP53." . _:40902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAS"; . _:40912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MyOvCa"; . a owl:NamedIndividual, ; , ; "PMID:42341622"; "A prospective inception cohort study of health and ageing in the very old in North East England, funded by the UK Medical Research Council and the Biotechnology and Biological Sciences Research Council, which invited everyone born in 1921 (turning 85 in 2006) who was registered with a participating general practice in Newcastle upon Tyne or North Tyneside, whether living at home or in an institution and regardless of health, recruited them in 2006–2007, assessed them at home with a multidimensional health assessment, review of general practice records and fasting blood samples, with repeat assessments at 18 and 36 months and follow-up until death, to study health trajectories, their biological, medical and social determinants, and the biology of ageing."; 1042; "N85PLUS", "Newcastle 85+ cohort study"; rdfs:label "Newcastle 85+ Study"@en . _:40922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2797051/fullTextXML"; rdfs:comment "The sampling frame comprised all people born in 1921 who were permanently registered with a participating general practice in Newcastle upon Tyne or North Tyneside primary care trusts in the UK." . _:40932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42341622"; "Exploring the relationship between cognitive impairment, frailty and mortality in the oldest old: findings from the Newcastle 85+ cohort study."; "PMID:42341622", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42341622+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We utilised data from the Newcastle 85+ Study, a prospective longitudinal cohort of individuals aged 85 at baseline (n = 695)." . _:40942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective inception cohort study of health and ageing in the very old in North East England, funded by the UK Medical Research Council and the Biotechnology and Biological Sciences Research Council, which invited everyone born in 1921 (turning 85 in 2006) who was registered with a participating general practice in Newcastle upon Tyne or North Tyneside, whether living at home or in an institution and regardless of health, recruited them in 2006–2007, assessed them at home with a multidimensional health assessment, review of general practice records and fasting blood samples, with repeat assessments at 18 and 36 months and follow-up until death, to study health trajectories, their biological, medical and social determinants, and the biology of ageing."; "PMID:17594470", "PMID:20028777"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1042; "people born in 1921 who took part at baseline (851 health assessment plus record review, 188 record review only, 3 health assessment only), 2006-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2797051/fullTextXML"; rdfs:comment "Of the 1453 people eligible to participate—that is, registered with a participating general practice and still alive—1042 (71.7%) participated." . _:40962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "N85PLUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18315, _:genid-371333f489424440b12a13b9d98ced822608-genid18317; , ; ; "PGS005203", "PMID:40691366"; "A case-control study of non-alcoholic fatty liver disease run by Harokopio University of Athens in Greek adults without secondary liver disease or excessive alcohol intake, recruited between 2012 and 2015 at the outpatient clinics of the First Department of Propaedeutic and Internal Medicine, Laiko General Hospital, Athens, and classified as cases or controls by degree of hepatic steatosis."; 134; 217; 351; "NAFLD", "NAFLD BioResource", "NAFLD study"; ; rdfs:label "Greek NAFLD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18315 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18317 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18315; "non-alcoholic fatty liver disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29574608+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The sample consisted of 134 patients with NAFLD and 217 controls." . _:40982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18317; "dietary habits"; "https://link.springer.com/article/10.1007/s00394-018-1675-4"; rdfs:comment "The aims of the present study were to evaluate the effect of PNPLA3, TM6SF2, and GCKR genetic variants on a NAFLD case–control Greek cohort, to assess the impact of dietary habits and to further explore the interaction of these three single nucleotide polymorphisms (SNPs) with dietary factors and their effect on NAFLD." . _:40992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11765347/fullTextXML"; rdfs:comment "In this regard, available data from 351 individuals in a Greek case–control NAFLD study were also used during following stages of our analysis." . _:409a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:409b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "NAFLD | NAFLD study | EUR | 449" . _:409c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of non-alcoholic fatty liver disease run by Harokopio University of Athens in Greek adults without secondary liver disease or excessive alcohol intake, recruited between 2012 and 2015 at the outpatient clinics of the First Department of Propaedeutic and Internal Medicine, Laiko General Hospital, Athens, and classified as cases or controls by degree of hepatic steatosis."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11765347/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:409d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 134; "adults recruited June 2012 to February 2015, NAFLD cases and controls (2012-2015)"; "https://link.springer.com/article/10.1007/s00394-018-1675-4"; rdfs:comment "The sample consisted of 134 patients with NAFLD and 217 controls." . _:409e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 217; "adults recruited June 2012 to February 2015, NAFLD cases and controls (2012-2015)"; "https://link.springer.com/article/10.1007/s00394-018-1675-4"; rdfs:comment "The sample consisted of 134 patients with NAFLD and 217 controls." . _:409f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 351; "adults recruited June 2012 to February 2015, NAFLD cases and controls (2012-2015)"; "https://link.springer.com/article/10.1007/s00394-018-1675-4"; rdfs:comment "After applying the exclusion criteria, a total of 351 individuals of Caucasian origin were recruited." . _:40a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAFLD"; . _:40a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAFLD BioResource"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18328, _:genid-371333f489424440b12a13b9d98ced822608-genid18330; ; , , , ; "PMID:24927283"; "A multisite consortium of Finland, Australia and the United States for the genetics of nicotine dependence, coordinated from Washington University School of Medicine: its Australian component, run with the Queensland Institute of Medical Research, recruited families with a sib pair concordant for heavy smoking, identified from surveys of Australian Twin Registry cohorts, and interviewed them by telephone in 2001–2006, and its Finnish component recruited twin pairs from the Finnish Twin Cohort concordant for ever-smoking, with their family members (mainly siblings), in 2001–2005; participants were assessed with a structured diagnostic interview and gave DNA for linkage and association studies of nicotine dependence and related substance use."; "NAG", "Nicotine Addiction Genetics Project", "Nicotine Addiction Genetics consortium", "Nicotine Addiction Genetics project"; rdfs:label "Nicotine Addiction Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18328 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18330 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18328; "nicotine addiction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24927283+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Twin pairs concordant for smoking history were recruited along with their family members, as part of the multisite Nicotine Addiction Genetics consortium." . _:40a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18330; "heavy smoking", "smoking history"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24927283+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Twin pairs concordant for smoking history were recruited along with their family members, as part of the multisite Nicotine Addiction Genetics consortium." . _:40a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057087/fullTextXML"; rdfs:comment "Based on earlier questionnaires, ever-smoking concordant twin pairs and their family members were recruited in 2001–2005 for the Nicotine Addiction Genetics (NAG) Finland study, as part of the consortium including Finland, Australia, and USA." . _:40a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18519829+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In 289 Australian families who participated in the Nicotine Addiction Genetics Project, 423 autosomal markers were genotyped." . _:40a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4057087/fullTextXML"; rdfs:comment "Based on earlier questionnaires, ever-smoking concordant twin pairs and their family members were recruited in 2001–2005 for the Nicotine Addiction Genetics (NAG) Finland study, as part of the consortium including Finland, Australia, and USA." . _:40a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24927283"; "Role of nicotine dependence in the association between the dopamine receptor gene DRD3 and major depressive disorder."; "PMID:24927283", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24927283+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Twin pairs concordant for smoking history were recruited along with their family members, as part of the multisite Nicotine Addiction Genetics consortium." . _:40a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multisite consortium of Finland, Australia and the United States for the genetics of nicotine dependence, coordinated from Washington University School of Medicine: its Australian component, run with the Queensland Institute of Medical Research, recruited families with a sib pair concordant for heavy smoking, identified from surveys of Australian Twin Registry cohorts, and interviewed them by telephone in 2001–2006, and its Finnish component recruited twin pairs from the Finnish Twin Cohort concordant for ever-smoking, with their family members (mainly siblings), in 2001–2005; participants were assessed with a structured diagnostic interview and gave DNA for linkage and association studies of nicotine dependence and related substance use."; "PMID:18519829", "PMID:19878140", "PMID:20700436", "PMID:24927283", "PMID:29532581"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18338, _:genid-371333f489424440b12a13b9d98ced822608-genid18340; , , ; ; "PGS000344", "PMID:32737321"; "A multicentre hospital-based case-control study of breast cancer in Nagano, Japan, enrolling a consecutive series of women aged 20-74 with newly diagnosed, histologically confirmed invasive breast cancer at four hospitals and cancer-free controls from medical check-up examinees matched by age and residential area, designed to study lifestyle and genetic risk factors and, with a parallel study in São Paulo, Brazil, to compare Japanese, Japanese Brazilian and non-Japanese Brazilian women."; 405; "NGOBCS", "NagBCS"; ; rdfs:label "Nagano Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18338 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18340 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18338; "breast cancer"; "https://doi.org/10.1007/s10549-008-0168-1"; rdfs:comment "Eligible cases were a consecutive series of female patients aged 20–74 years with newly diagnosed and histologically confirmed invasive breast cancer." . _:40ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18340; "lifestyle factors"; "https://doi.org/10.1007/s10549-008-0168-1"; rdfs:comment "These multicenter, hospital-based case–control studies of breast cancer were designed to determine lifestyle factors and genetic susceptibility to the risk of breast cancer and to compare potential risk factors among Japanese living in Nagano, Japan, and Japanese Brazilians and non-Japanese Brazilians living in São Paulo, Brazil." . _:40ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3050759/fullTextXML"; rdfs:comment "We have conducted a cross-sectional study using a control group of case-control studies in Nagano, Japan, and São Paulo, Brazil." . _:40ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:40ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32737321"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-17680-w/MediaObjects/41467_2020_17680_MOESM1_ESM.pdf"; rdfs:comment "NGOBCS Nagano Breast CancerStudy11 Hospital-basedcase-control study Japan" . _:40af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre hospital-based case-control study of breast cancer in Nagano, Japan, enrolling a consecutive series of women aged 20-74 with newly diagnosed, histologically confirmed invasive breast cancer at four hospitals and cancer-free controls from medical check-up examinees matched by age and residential area, designed to study lifestyle and genetic risk factors and, with a parallel study in São Paulo, Brazil, to compare Japanese, Japanese Brazilian and non-Japanese Brazilian women."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3050759/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 405; "Nagano breast cancer cases recruited in 2001-2005"; "https://doi.org/10.1007/s10549-008-0168-1"; rdfs:comment "A total of 405 cases (98%) participated in Nagano, and 83 Japanese Brazilians (91%) and 389 non-Japanese Brazilians (99%) in São Paulo." . _:40b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NGOBCS"; . _:40b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NagBCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. NAG/IRPG is the Australian Nicotine Addiction Genetics families with genome-wide genotypes from the Interactive Research Project Grants (PMID:22833196), one of the three coordinated studies of the Australian Alcohol and Nicotine Studies. Replaced by COHO:0000841 (Australian Alcohol and Nicotine Studies), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Nicotine Addiction Genetics study / Interactive Research Project Grants"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Nagoya Study of the Asia Breast Cancer Consortium GWAS is the Hospital-based Epidemiologic Research Program at Aichi Cancer Center, HERPACC-II (PMID:25038754). Replaced by COHO:0000781 (Hospital-based Epidemiologic Research Program at Aichi Cancer Center), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Nagoya Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18349; , ; "PGS004239", "PMID:42619341"; "A national registry and biobank of patients with primary adrenal insufficiency (Addison's disease) in Norway, established in 1996 within the National Registry of Organ-Specific Autoimmune Diseases (ROAS) at Haukeland University Hospital, Bergen, that collects clinical information, demographics and serial biological samples from most Norwegian patients with the disease."; 1040; "NAR", "National Norwegian Addison Registry", "Norwegian National Addison Registry"; ; rdfs:label "Norwegian Addison Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18349 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18349; "primary adrenal insufficiency"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8052519/fullTextXML"; rdfs:comment "The National Norwegian Addison Registry (ROAS) collates clinical information, demographics, and biological samples from patients with PAI." . _:40b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004239"; "A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies."; "PMID:37151110" . _:40b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42619341"; "Risk and outcomes of adrenal crisis in primary adrenal insufficiency: Evidence from a 24-year nationwide cohort study."; "PMID:42619341", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42619341+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied 1040 patients with autoimmune or idiopathic primary adrenal insufficiency enrolled in the Norwegian Addison Registry." . _:40b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national registry and biobank of patients with primary adrenal insufficiency (Addison's disease) in Norway, established in 1996 within the National Registry of Organ-Specific Autoimmune Diseases (ROAS) at Haukeland University Hospital, Bergen, that collects clinical information, demographics and serial biological samples from most Norwegian patients with the disease."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8052519/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8208662/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1040; "patients with autoimmune or idiopathic primary adrenal insufficiency enrolled in the registry (patients with known non-autoimmune causes not counted), 2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42619341+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied 1040 patients with autoimmune or idiopathic primary adrenal insufficiency enrolled in the Norwegian Addison Registry." . _:40b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18356, _:genid-371333f489424440b12a13b9d98ced822608-genid18358; , ; ; "PGS000773", "PMID:29058716"; "A long-term study, started in 1995 at Women's College Hospital in Toronto, Canada, of women aged 18 or over carrying a BRCA1 or BRCA2 (later also PALB2) mutation, whatever their cancer history, recruited from Canada, the United States, Europe, Asia, the Caribbean and Latin America and followed by questionnaires every two years, to study hormonal, reproductive and lifestyle factors in the prevention and treatment of hereditary breast and ovarian cancer; it contributes carriers to CIMBA."; 46; 100; "NAROD", "Risk Factor Analysis of Hereditary Breast and Ovarian Cancer"; ; rdfs:label "Women's College Research Institute Hereditary Breast and Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18356 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18358 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18356; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:40ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18358; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:40bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "NAROD | Women's College Research Institute Hereditary Breast and Ovarian Cancer Study | CANADA | | | | 100 | 46" . _:40bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000773"; "Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry."; "PMID:33769540" . _:40bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "NAROD | Women's College Research Institute Hereditary Breast and Ovarian Cancer Study | CANADA | | | | 100 | 46" . _:40be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A long-term study, started in 1995 at Women's College Hospital in Toronto, Canada, of women aged 18 or over carrying a BRCA1 or BRCA2 (later also PALB2) mutation, whatever their cancer history, recruited from Canada, the United States, Europe, Asia, the Caribbean and Latin America and followed by questionnaires every two years, to study hormonal, reproductive and lifestyle factors in the prevention and treatment of hereditary breast and ovarian cancer; it contributes carriers to CIMBA."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx", "https://www.womensacademics.ca/active-studies/risk-factor-analysis-of-hereditary-breast-and-ovarian-cancer/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 46; "BRCA1-carrier iCOGS breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "NAROD | Women's College Research Institute Hereditary Breast and Ovarian Cancer Study | CANADA | | | | 100 | 46" . _:40c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100; "BRCA1-carrier iCOGS breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "NAROD | Women's College Research Institute Hereditary Breast and Ovarian Cancer Study | CANADA | | | | 100 | 46" . _:40c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAROD"; . a owl:NamedIndividual, ; , ; "PGS001800", "PMID:32649918"; "A longitudinal study of health and aging, established by the Veterans Administration in 1963, of healthy men aged 21 to 80 from the greater Boston area, United States, who were free of known chronic medical conditions at enrolment."; 2280; "NAS", "VA Normative Aging Study", "Veterans Administration Normative Aging Study"; ; rdfs:label "Normative Aging Study"@en . _:40c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; rdfs:comment "The Normative Aging Study is a longitudinal study of healthy men established in 1963 aged 21 to 80 years from the greater Boston area, free of known chronic medical conditions." . _:40c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001800"; "Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts."; "PMID:32649918" . _:40c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32649918"; "Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts."; "PMID:32649918", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7429152/fullTextXML"; rdfs:comment "Case-control studies included COPDGene (non-Hispanic white and African American participants),23 ECLIPSE,24 NETT25 and Normative Aging Study (NAS),26 SPIROMICS,27, 28 and the Lung Health Study (LHS).29, 30 Population-based studies included MESA (African American, non-Hispanic white, Hispanic, and Chinese participants),31, 32 Cardiovascular Health Study (CHS; African American and European ancestry participants),33 the Rotterdam Study (all three cohorts),34 and a study by Kangwon University.35 For lung-function growth patterns, we did an analysis using individuals in the Childhood Asthma Management Program (CAMP).18 CAMP was a randomised placebo-controlled trial of anti-inflammatory" . _:40c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of health and aging, established by the Veterans Administration in 1963, of healthy men aged 21 to 80 from the greater Boston area, United States, who were free of known chronic medical conditions at enrolment."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01314-0/MediaObjects/41588_2023_1314_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:40c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2280; "male volunteers aged 21-80 from the greater Boston area enrolled in the closed cohort from 1963"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5010417/fullTextXML"; rdfs:comment "Briefly, the VA Normative Aging Study is a closed cohort of 2,280 male volunteers from the greater Boston area (Massachusetts), 21–80 years of age at study entry, who enrolled after an initial health screening determined that they were free of known chronic medical conditions." . _:40c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Nashville Biosciences (NashBio), the PGS Catalog cohort id used for scores of Haydarlou et al. 2026 and Kerrebijn et al. 2026, is a company, a data and analytics provider owned by Vanderbilt University Medical Center, and the samples it contributed are BioVU’s (PMC13472937: The NashBio dataset included in this study is a subset of BioVU). Replaced by COHO:0000417, BioVU, which carries the names Nashville Biosciences and NashBio. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Nashville Biosciences"@en; owl:deprecated true . a owl:NamedIndividual, ; ; "NatBHS"; ; rdfs:label "National Brain Hemorrhage Study"@en . _:40c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NatBHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18374, _:genid-371333f489424440b12a13b9d98ced822608-genid18376; , ; "PGS000906", "PMID:33216869"; "A brain bank established at the end of 1985 at the Netherlands Institute for Brain Research, in collaboration with nursing homes in and around Amsterdam, the Netherlands, which performs rapid autopsies of donors who gave informed consent during life for the research use of their brain tissue and medical files, originally to supply post-mortem brain tissue from Alzheimer's disease patients and controls."; 4003; "NBB"; ; rdfs:label "Netherlands Brain Bank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18374 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18376 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18374; "psychiatric disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6943778/fullTextXML"; rdfs:comment "The NBB was established in 1985 to collect human brain tissues from donors with various neurological and psychiatric disorders and also non-diseased donors." . _:40ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18376; "neurological disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6943778/fullTextXML"; rdfs:comment "The NBB was established in 1985 to collect human brain tissues from donors with various neurological and psychiatric disorders and also non-diseased donors." . _:40cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7098103/fullTextXML"; rdfs:comment "Residents from the Netherlands can register themselves as a brain donor at the NBB since 1985." . _:40cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000906"; "Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum."; "PMID:33216869" . _:40cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33216869"; "Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum."; "PMID:33216869", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8087277/fullTextXML"; rdfs:comment "As controls, we used (a) a sample of 1779 Dutch older adults from the Longitudinal Aging Study of Amsterdam (24), (b) a sample of 1206 older adults with subjective cognitive decline who visited the memory clinic of the Alzheimer Center Amsterdam and SCIENCe project, who were labeled cognitively normal after the extensive examination (25), (c) a sample of 40 healthy controls from the Netherlands Brain Bank (26), (d) a sample of 201 individuals from the twin study (27), and (e) a sample of 86 older adults from the 100-plus Study (partners of centenarian’s children)." . _:40ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A brain bank established at the end of 1985 at the Netherlands Institute for Brain Research, in collaboration with nursing homes in and around Amsterdam, the Netherlands, which performs rapid autopsies of donors who gave informed consent during life for the research use of their brain tissue and medical files, originally to supply post-mortem brain tissue from Alzheimer's disease patients and controls."; "PMID:1480765", "PMID:29496148", "PMID:8360654"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:40cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4003; "brain donors collected by the NBB from 1989 to 2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7098103/fullTextXML"; rdfs:comment "Clinical records of all donors (n = 4003) collected by the NBB in Amsterdam, the Netherlands, from 1989 to 2015 were screened for inclusion in this study." . _:40d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18384, _:genid-371333f489424440b12a13b9d98ced822608-genid18386; , ; "PGS000004", "PMID:19219042"; "A population-based case-control study of breast cancer in the eight-county Nashville metropolitan area, Tennessee, United States, approved through Vanderbilt University Medical Center, which from April 2001 enrolled women aged 25 to 75 with newly diagnosed invasive breast cancer or ductal carcinoma in situ, found through the Tennessee State Cancer Registry and five major Nashville hospitals, and controls found by random-digit dialling and frequency-matched on age, race and county, with telephone interviews, food frequency questionnaires and buccal DNA samples."; 2409; 1708; 4117; "NBHS"; ; rdfs:label "Nashville Breast Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18384 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18386 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18384; "ductal carcinoma in situ"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.318/MediaObjects/41588_2009_BFng318_MOESM9_ESM.pdf"; rdfs:comment "Eligible cases were women diagnosed between April 1, 2001 and March 31, 2008 with invasive breast cancer or ductal carcinoma in situ, who were between the ages of 25 and 75, had no prior history of cancer other than non-melanoma skin cancer, had a resident telephone, spoke English, and who were able to provide consent to the study." . _:40d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18386; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.318/MediaObjects/41588_2009_BFng318_MOESM9_ESM.pdf"; rdfs:comment "Eligible cases were women diagnosed between April 1, 2001 and March 31, 2008 with invasive breast cancer or ductal carcinoma in situ, who were between the ages of 25 and 75, had no prior history of cancer other than non-melanoma skin cancer, had a resident telephone, spoke English, and who were able to provide consent to the study." . _:40d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21537933+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated this association in a population-based case-control study of incident breast cancer conducted in Nashville, Tennessee, United States, including 2,386 breast cancer cases and 1,703 healthy women controls." . _:40d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes."; "PMID:30554720" . _:40d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19219042"; "Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1."; "PMID:19219042", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2754845/"; rdfs:comment "Association of rs2046210 with breast cancer risk among women of European ancestry in the Nashville Breast Health Study." . _:40d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of breast cancer in the eight-county Nashville metropolitan area, Tennessee, United States, approved through Vanderbilt University Medical Center, which from April 2001 enrolled women aged 25 to 75 with newly diagnosed invasive breast cancer or ductal carcinoma in situ, found through the Tennessee State Cancer Registry and five major Nashville hospitals, and controls found by random-digit dialling and frequency-matched on age, race and county, with telephone interviews, food frequency questionnaires and buccal DNA samples."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.318/MediaObjects/41588_2009_BFng318_MOESM9_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2409; "NBHS participants completing telephone interviews, including the well-done-meat questionnaire (2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3775710/"; rdfs:comment "A total of 4,117 subjects (2,409 cases and 1,708 controls) successfully completed a telephone interview, including the questionnaire for well-done meat intake." . _:40d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1708; "NBHS participants completing telephone interviews, including the well-done-meat questionnaire (2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3775710/"; rdfs:comment "A total of 4,117 subjects (2,409 cases and 1,708 controls) successfully completed a telephone interview, including the questionnaire for well-done meat intake." . _:40d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4117; "NBHS participants completing telephone interviews, including the well-done-meat questionnaire (2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3775710/"; rdfs:comment "A total of 4,117 subjects (2,409 cases and 1,708 controls) successfully completed a telephone interview, including the questionnaire for well-done meat intake." . _:40da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18396; , , ; "PMID:22899653"; "A two-centre case-control genome-wide association study of lung cancer in Han Chinese in China, made up of the Nanjing Study (with participants from Nanjing and Shanghai) and the Beijing Study, whose cases had histopathologically or cytologically confirmed lung cancer and whose controls, frequency-matched to the cases for age, sex and region, were people receiving routine physical examinations in local hospitals or taking part in community screening for noncommunicable diseases."; 2331; 3077; 5408; "NBLCS"; rdfs:label "Nanjing and Beijing Lung Cancer Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18396 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18396; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3585721/fullTextXML"; rdfs:comment "The study subjects were from an ongoing two-center GWAS of lung cancer in China, including Nanjing study and Beijing study." . _:40dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3585721/fullTextXML"; rdfs:comment "The study subjects were from an ongoing two-center GWAS of lung cancer in China, including Nanjing study and Beijing study." . _:40dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22899653"; "Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls."; "PMID:22899653", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3607485/fullTextXML"; rdfs:comment "The Nanjing and Beijing Lung Cancer Studies provided summary data on the top SNPs for overall lung cancer risk and risk by specific histology." . _:40de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A two-centre case-control genome-wide association study of lung cancer in Han Chinese in China, made up of the Nanjing Study (with participants from Nanjing and Shanghai) and the Beijing Study, whose cases had histopathologically or cytologically confirmed lung cancer and whose controls, frequency-matched to the cases for age, sex and region, were people receiving routine physical examinations in local hospitals or taking part in community screening for noncommunicable diseases."; "PMID:22899653", "PMID:23341777", "PMID:23469231"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2331; "cases and controls of the genome-wide scan (Nanjing and Beijing studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21725308+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genetic factors that modify the risk of lung cancer in individuals of Chinese ancestry, we performed a genome-wide association scan in 5,408 subjects (2,331 individuals with lung cancer (cases) and 3,077 controls) followed by a two-stage validation among 12,722 subjects (6,313 cases and 6,409 controls)." . _:40e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3077; "cases and controls of the genome-wide scan (Nanjing and Beijing studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21725308+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genetic factors that modify the risk of lung cancer in individuals of Chinese ancestry, we performed a genome-wide association scan in 5,408 subjects (2,331 individuals with lung cancer (cases) and 3,077 controls) followed by a two-stage validation among 12,722 subjects (6,313 cases and 6,409 controls)." . _:40e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5408; "cases and controls of the genome-wide scan (Nanjing and Beijing studies)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21725308+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify genetic factors that modify the risk of lung cancer in individuals of Chinese ancestry, we performed a genome-wide association scan in 5,408 subjects (2,331 individuals with lung cancer (cases) and 3,077 controls) followed by a two-stage validation among 12,722 subjects (6,313 cases and 6,409 controls)." . _:40e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBLCS"; . a owl:NamedIndividual, ; ; , ; "PMID:22590574"; "The national registry of healthy volunteer bone marrow donors in Norway, held at Oslo University Hospital, whose members are HLA-typed on inclusion in the registry; random selections of registered donors, with their HLA data and samples, serve as healthy population controls in Norwegian genetic and epidemiological studies of immune-mediated disease."; 4514; "NBMDR"; rdfs:label "Norwegian Bone Marrow Donor Registry"@en . _:40e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22590574"; "Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population."; "PMID:22590574", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3348874/fullTextXML"; rdfs:comment "The control samples (n = 651, female: male ratio 1.9) were randomly selected among healthy Norwegian bone marrow donors recruited through the Norwegian Bone Marrow Donor Registry (http:/www.nordonor.org/)." . _:40e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The national registry of healthy volunteer bone marrow donors in Norway, held at Oslo University Hospital, whose members are HLA-typed on inclusion in the registry; random selections of registered donors, with their HLA data and samples, serve as healthy population controls in Norwegian genetic and epidemiological studies of immune-mediated disease."; "PMID:22590574", "PMID:26207384", "PMID:29684411"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4514; "registry volunteers HLA-typed for a Norwegian reference panel (a subset of the registry)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29684411+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We report HLA-A, -C, -B, -DRB1, -DQB1 and -DPB1 allele frequencies and estimated haplotype frequencies from 4514 healthy Norwegians who volunteered to participate in the Norwegian Bone Marrow Donor Registry." . _:40e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBMDR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18409; , ; "PMID:26424050"; "A UK study of primary brain tumours, supported by the National Cancer Research Network, whose recruited glioma cases were the case series of the replication stage of a 2015 genome-wide association study of glioma, compared with healthy UK controls from the National Study of Colorectal Cancer Genetics and the Genetic Lung Cancer Predisposition Study."; 1490; "NBTS", "National Brain Tumor Study"; rdfs:label "National Brain Tumour Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18409 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18409; "primary brain tumours"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4600760/"; rdfs:comment "For replication we made use of DNA from 1,490 glioma cases recruited to an ongoing UK study of primary brain tumours (National Brain Tumour Study)." . _:40e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4600760/"; rdfs:comment "For replication we made use of DNA from 1,490 glioma cases recruited to an ongoing UK study of primary brain tumours (National Brain Tumour Study)." . _:40e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26424050"; "Genome-wide association study identifies multiple susceptibility loci for glioma."; "PMID:26424050", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4600760/"; rdfs:comment "For replication we made use of DNA from 1,490 glioma cases recruited to an ongoing UK study of primary brain tumours (National Brain Tumour Study)." . _:40ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK study of primary brain tumours, supported by the National Cancer Research Network, whose recruited glioma cases were the case series of the replication stage of a 2015 genome-wide association study of glioma, compared with healthy UK controls from the National Study of Colorectal Cancer Genetics and the Genetic Lung Cancer Predisposition Study."; "PMID:26424050"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1490; "NBTS glioma cases used in the 2015 replication stage"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4600760/"; rdfs:comment "For replication we made use of DNA from 1,490 glioma cases recruited to an ongoing UK study of primary brain tumours (National Brain Tumour Study)." . _:40ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBTS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18416; , ; "PMID:25420145"; "A collection of patients with cervical artery dissection, of European origin, at Radboud University Nijmegen Medical Centre, the Netherlands, drawn in part from the FUTURE study and meeting the inclusion criteria of the CADISP study, which with controls from Nijmegen and the Rotterdam Study formed one of the follow-up samples of the 2015 genome-wide association study of cervical artery dissection."; 20; "NCADC", "Nijmegen cervical artery dissection collection"; rdfs:label "Nijmegen Cervical Artery Dissection Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18416 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18416; "cervical artery dissection"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Additional DNA samples from CeAD patients of European origin were collected in 2010-2011 following CADISP inclusion criteria (Supplementary Fig. 1), through departments of neurology specialized in stroke care in Germany, the Netherlands, Sweden, Italy, France, Switzerland and the USA (Supplementary Table 4)." . _:40ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Netherlands Radboud University Nijmegen Medical Center/the FUTURE study Nijmegen 20" . _:40ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25420145"; "Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "The Nijmegen cervical artery dissection collection was supported by the “Dutch Epilepsy Fund” (grant 10-18)." . _:40f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with cervical artery dissection, of European origin, at Radboud University Nijmegen Medical Centre, the Netherlands, drawn in part from the FUTURE study and meeting the inclusion criteria of the CADISP study, which with controls from Nijmegen and the Rotterdam Study formed one of the follow-up samples of the 2015 genome-wide association study of cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20; "cervical artery dissection patients from Radboud University Nijmegen Medical Center/the FUTURE study in the follow-up sample of the 2015 CeAD GWAS (analysed subset), 2010-2011"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Netherlands Radboud University Nijmegen Medical Center/the FUTURE study Nijmegen 20" . _:40f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCADC"; . a owl:NamedIndividual, ; , ; "PMID:22479380"; "A prospective, unselected, population-based birth cohort in West Cumbria, England, set up by the University of Newcastle and the Westlakes Research Institute, which from January 1996 to 2003 collected umbilical cord blood and tissue, with maternal consent and a short maternal lifestyle questionnaire, from babies born at the West Cumberland Hospital maternity unit in Whitehaven, storing DNA, plasma and viable cells as a resource for genetic and epidemiological studies of gene–environment interaction and health, with some children followed up in childhood."; 7000; "NCCGP"; rdfs:label "North Cumbria Community Genetics Project"@en . _:40f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3316565/fullTextXML"; rdfs:comment "Samples and data from this prospective, unselected, population-based cohort were collected between 1996 and 2003 at a single maternity unit in West Cumbria, UK." . _:40f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22479380"; "Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12."; "PMID:22479380", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3316565/fullTextXML"; rdfs:comment "A nested cohort study was undertaken within the North Cumbria Community Genetics Project [44] and included 430 cord blood DNA samples (mean (± SD) gestation = 39.5 (1.4) weeks) for methylation and genotype analysis." . _:40f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, unselected, population-based birth cohort in West Cumbria, England, set up by the University of Newcastle and the Westlakes Research Institute, which from January 1996 to 2003 collected umbilical cord blood and tissue, with maternal consent and a short maternal lifestyle questionnaire, from babies born at the West Cumberland Hospital maternity unit in Whitehaven, storing DNA, plasma and viable cells as a resource for genetic and epidemiological studies of gene–environment interaction and health, with some children followed up in childhood."; "PMID:19681860", "PMID:22479380", "PMID:24098518", "PMID:9610806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7000; "offspring born 1996-2003 with DNA and tissue samples (approximate; approximately 3000 mothers also gave samples)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3516066/fullTextXML"; rdfs:comment "The NCCGP is a community-based DNA-banking project, consisting of DNA and tissue samples from approximately 3000 mothers and approximately 7000 offspring born between 1996 and 2003 (46)." . _:40f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18428; , , ; ; "PGS002252", "PMID:25105248"; "A hospital-based case-control study of colorectal cancer conducted between October 1998 and March 2002 at four hospitals in Nagano Prefecture, Japan, enrolling patients aged 20-74 with newly diagnosed, histologically confirmed colorectal cancer and cancer-free controls from medical check-up examinees at the same hospitals, matched on sex, age, hospital and residential area, with self-administered and food-frequency questionnaires and blood samples."; 121; 245; "NCCS"; ; rdfs:label "Nagano Colorectal Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18428 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:40f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18428; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "We enrolled 121 colorectal cancer cases." . _:40f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "A hospital-based case-control study 22 was conducted between October 1998 and March 2002 at four hospitals in Nagano Prefecture, Japan." . _:40fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002252"; "Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study."; "PMID:35026030" . _:40fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25105248"; "Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A."; "PMID:25105248", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "In the first GWAS, Japanese samples (n = 6,424) were identified from the Multiethnic Cohort study (MEC), the Colorectal Cancer Family Registry (CCFR), the Japan Public Health Center cohort study (JPHC) and three case-control studies in Hawaii (CR2&3) and in Fukuoka and Nagano, Japan (Supplementary Table 1)." . _:40fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of colorectal cancer conducted between October 1998 and March 2002 at four hospitals in Nagano Prefecture, Japan, enrolling patients aged 20-74 with newly diagnosed, histologically confirmed colorectal cancer and cancer-free controls from medical check-up examinees at the same hospitals, matched on sex, age, hospital and residential area, with self-administered and food-frequency questionnaires and blood samples."; "PMID:25105248"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:40fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 121; "Original Nagano study recruitment, 1998-2002"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "We enrolled 121 colorectal cancer cases." . _:40fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 245; "Original Nagano study recruitment, 1998-2002"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "Two controls were matched to each case on sex, age (within three years), hospital and residential area and 245 controls participated (participation rate = 99%)." . _:40ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18437; , , , , , , , , , , , , , , ; , , , , , , ; "PMID:22238607"; "The US National Cancer Institute's genome-wide association study of bladder cancer, which pooled cases with histologically confirmed bladder cancer and controls of European descent from two case-control studies in Spain and the United States (the Spanish Bladder Cancer Study and the Maine and Vermont components of the New England Bladder Cancer Study) and three prospective cohorts in Finland and the United States (the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study, the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial and the American Cancer Society Cancer Prevention Study II Nutrition Cohort) in its first scan (NCI-GWAS1), and added a second scan (NCI-GWAS2) of further cases, including the New Hampshire component of the New England Bladder Cancer Study, with cancer-free controls from previously scanned NCI studies, to identify susceptibility loci for bladder cancer."; 3532; 5120; "Genome-wide association study for Bladder Cancer Risk", "NCI bladder cancer GWAS", "NCI-GWAS", "NCI-GWAS1", "NCI-GWAS2"; rdfs:label "NCI Bladder Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18437 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18437; "bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases and used existing control data for four cohort studies already subjected to rigorous quality control metrics: the European Prospective Investigation Into Cancer and Nutrition Study (EPIC), Women's Health Initiative (WHI), Health Professionals Follow-up Study (HPFS) and Nurses' Health Study I and II (NHS I and II), which have been a part of Cancer Genetic Markers of Susceptibility (CGEMS) (Supplementary Material, Table S1)." . _:41022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "For LABCS, CeRePP, FBCS and BBCS studies where we genotyped cases only, we created in silico study groups based on comparable geographic/demographic parameters, which resulted in three new ‘study groups’, specifically, Europe (which comprises data from EPIC, CeRePP, and FBCS), Multiethnic Cohort (MEC)/LA (which comprises cases from LABCS and controls from the MEC) and Italy (which comprises cases from BBCS and controls from the EAGLE)." . _:41032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases and used existing control data for four cohort studies already subjected to rigorous quality control metrics: the European Prospective Investigation Into Cancer and Nutrition Study (EPIC), Women's Health Initiative (WHI), Health Professionals Follow-up Study (HPFS) and Nurses' Health Study I and II (NHS I and II), which have been a part of Cancer Genetic Markers of Susceptibility (CGEMS) (Supplementary Material, Table S1)." . _:41042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases and used existing control data for four cohort studies already subjected to rigorous quality control metrics: the European Prospective Investigation Into Cancer and Nutrition Study (EPIC), Women's Health Initiative (WHI), Health Professionals Follow-up Study (HPFS) and Nurses' Health Study I and II (NHS I and II), which have been a part of Cancer Genetic Markers of Susceptibility (CGEMS) (Supplementary Material, Table S1)." . _:41052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases and used existing control data for four cohort studies already subjected to rigorous quality control metrics: the European Prospective Investigation Into Cancer and Nutrition Study (EPIC), Women's Health Initiative (WHI), Health Professionals Follow-up Study (HPFS) and Nurses' Health Study I and II (NHS I and II), which have been a part of Cancer Genetic Markers of Susceptibility (CGEMS) (Supplementary Material, Table S1)." . _:41072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases and used existing control data for four cohort studies already subjected to rigorous quality control metrics: the European Prospective Investigation Into Cancer and Nutrition Study (EPIC), Women's Health Initiative (WHI), Health Professionals Follow-up Study (HPFS) and Nurses' Health Study I and II (NHS I and II), which have been a part of Cancer Genetic Markers of Susceptibility (CGEMS) (Supplementary Material, Table S1)." . _:41092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:410a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases for four case–control studies, the Los Angeles Bladder Cancer Study (LABCS), the French Center for Research on Prostate Diseases (CeRePP), the French Bladder Study (FBCS) and the Brescia Bladder Cancer Study (BBCS)." . _:410b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases for four case–control studies, the Los Angeles Bladder Cancer Study (LABCS), the French Center for Research on Prostate Diseases (CeRePP), the French Bladder Study (FBCS) and the Brescia Bladder Cancer Study (BBCS)." . _:410c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "We genotyped cases for four case–control studies, the Los Angeles Bladder Cancer Study (LABCS), the French Center for Research on Prostate Diseases (CeRePP), the French Bladder Study (FBCS) and the Brescia Bladder Cancer Study (BBCS)." . _:410d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:410e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3919005/"; rdfs:comment "For LABCS, CeRePP, FBCS and BBCS studies where we genotyped cases only, we created in silico study groups based on comparable geographic/demographic parameters, which resulted in three new ‘study groups’, specifically, Europe (which comprises data from EPIC, CeRePP, and FBCS), Multiethnic Cohort (MEC)/LA (which comprises cases from LABCS and controls from the MEC) and Italy (which comprises cases from BBCS and controls from the EAGLE)." . _:410f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000346.v1.p1"; rdfs:comment "Scan data were obtained from two case-control studies carried out in Spain and the United States (specifically, those in the Maine and Vermont components of the New England Bladder Cancer Study) and three prospective cohort studies in Finland and the United States (specifically Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study, Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, and The American Cancer Society Cancer Prevention Study II Nutrition Cohort)." . _:41112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based NA" . _:41122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "BBCS Brescia Bladder Cancer Study 214 200 100 Italy: hospital-based (32, 33)" . _:41132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22238607"; "Large-scale pathway-based analysis of bladder cancer genome-wide association data from five studies of European background."; "PMID:22238607", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The US National Cancer Institute's genome-wide association study of bladder cancer, which pooled cases with histologically confirmed bladder cancer and controls of European descent from two case-control studies in Spain and the United States (the Spanish Bladder Cancer Study and the Maine and Vermont components of the New England Bladder Cancer Study) and three prospective cohorts in Finland and the United States (the Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study, the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial and the American Cancer Society Cancer Prevention Study II Nutrition Cohort) in its first scan (NCI-GWAS1), and added a second scan (NCI-GWAS2) of further cases, including the New Hampshire component of the New England Bladder Cancer Study, with cancer-free controls from previously scanned NCI studies, to identify susceptibility loci for bladder cancer."; "PMID:22238607", "PMID:24163127", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000346.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3532; "NCI-GWAS1 primary scan in the own pathway-analysis report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5120; "NCI-GWAS1 primary scan in the own pathway-analysis report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3251580/fullTextXML"; rdfs:comment "We applied our analyses to primary scan data of 591,637 SNPs from NCI's bladder cancer GWAS containing 3,532 cases and 5,120 controls of European ancestry from five studies (Spanish Bladder Cancer Study [SBCS], New England, Maine and Vermont Bladder Cancer Study [NEBCS-ME/VT], Alpha-Tocopherol, Beta-Carotene Cancer Prevention Study [ATBC], the American Cancer Society Cancer Prevention Study II Nutrition Cohort [CPS-II], and the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial [PLCO]) [22]." . _:41172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-GWAS"; . _:41182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-GWAS1"; . _:41192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-GWAS2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18464; , ; ; "PGS000874", "PMID:26956414"; "A multicentre population-based case-control study of non-Hodgkin lymphoma in the United States, run by the US National Cancer Institute, whose cases were people with a first primary non-Hodgkin lymphoma (excluding people infected with HIV) identified through four Surveillance, Epidemiology, and End Results cancer registries (Detroit, Iowa, Los Angeles and Seattle), and whose controls from the same areas were matched on area, age and race and found by random digit dialling (under 65) or from Medicare files (65 and over)."; 1321; 1057; "NCI-SEER", "National Cancer Institute- Surveillance, Epidemiology, and End Results Interdisciplinary Case-Control Study of Non-Hodgkin's Lymphoma", "National Cancer Institute- Surveillance, Epidemiology, and End Results Interdisciplinary Case-Control Study of Non-Hodgkins Lymphoma"; ; rdfs:label "National Cancer Institute-Surveillance, Epidemiology, and End Results Interdisciplinary Case-Control Study of Non-Hodgkin's Lymphoma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18464 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:411a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18464; "non-Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4786871/supplementaryFiles"; rdfs:comment "Population- based case- control study, USA First primary NHL diagnosis identified through 4 SEER registries (excluding HIV- infected cases)" . _:411b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4786871/supplementaryFiles"; rdfs:comment "Population- based case- control study, USA First primary NHL diagnosis identified through 4 SEER registries (excluding HIV- infected cases)" . _:411c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000874"; "Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis."; "PMID:29674426" . _:411d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26956414"; "Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia."; "PMID:26956414", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4786871/supplementaryFiles"; rdfs:comment "National Cancer Institute- Surveillance, Epidemiology, and End Results Interdisciplinary Case-Control Study of Non-Hodgkin's Lymphoma NCI-SEER 91 689 Population- based case- control study, USA" . _:411e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre population-based case-control study of non-Hodgkin lymphoma in the United States, run by the US National Cancer Institute, whose cases were people with a first primary non-Hodgkin lymphoma (excluding people infected with HIV) identified through four Surveillance, Epidemiology, and End Results cancer registries (Detroit, Iowa, Los Angeles and Seattle), and whose controls from the same areas were matched on area, age and race and found by random digit dialling (under 65) or from Medicare files (65 and over)."; "PMID:15342441", "PMID:26956414", "PMID:29674426"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:411f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1321; "interviewed NHL cases and frequency-matched controls, 1998-2000"; "PMID:17588155"; rdfs:comment "Interviews were completed with 1,321 cases ascertained from population-based cancer registries in Seattle, Detroit, Los Angeles and Iowa, and with 1,057 frequency-matched controls, selected by random-digit dialing and from the Medicare files database." . _:41202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1057; "interviewed NHL cases and frequency-matched controls, 1998-2000"; "PMID:17588155"; rdfs:comment "Interviews were completed with 1,321 cases ascertained from population-based cancer registries in Seattle, Detroit, Los Angeles and Iowa, and with 1,057 frequency-matched controls, selected by random-digit dialing and from the Medicare files database." . _:41212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-SEER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18473; , ; ; "PGS000793", "PMID:20386703"; "A population-based case-control study of epithelial ovarian cancer in 48 counties of central and eastern North Carolina, United States, in which women diagnosed with ovarian cancer from 1999 to 2008 were identified by rapid case ascertainment and controls from the same region were selected by random digit dialing and frequency-matched to the cases on age and race."; 1195; 1085; "NCO", "NCOCS"; ; rdfs:label "North Carolina Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18473 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18473; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2851649/fullTextXML"; rdfs:comment "Eligible cases, aged 20 to 74, were diagnosed with epithelial ovarian cancer between 1999 and 2007." . _:41232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "NCO North Carolina Ovarian Cancer Study (NCOCS) United States Cases from 1999 onwards identified from 48 counties within the region by rapid- case ascertainment." . _:41242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000793"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:41252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20386703"; "Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer."; "PMID:20386703", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20386703+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed the association between 53 genes related to DNA repair and p53-mediated damage response and serous ovarian cancer risk using case-control data from the North Carolina Ovarian Cancer Study (NCOCS), a population-based, case-control study." . _:41262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer in 48 counties of central and eastern North Carolina, United States, in which women diagnosed with ovarian cancer from 1999 to 2008 were identified by rapid case ascertainment and controls from the same region were selected by random digit dialing and frequency-matched to the cases on age and race."; "PMID:19127255", "PMID:36688720", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1195; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "NCO (26) USA North Carolina Ovarian Cancer Study 1999-2008 Population-based Interview 55.28 (11.53) 1085 (47.6) 1195 (42.4)" . _:41282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1085; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "NCO (26) USA North Carolina Ovarian Cancer Study 1999-2008 Population-based Interview 55.28 (11.53) 1085 (47.6) 1195 (42.4)" . _:41292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCO"; . _:412a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18483; , ; ; "PGS000751", "PMID:21602798"; "A population-based case-control study of prostate cancer in 12 contiguous counties of western North Carolina, United States, which from November 2006 to November 2008 recruited men aged 40 to 70 with a new histological diagnosis of prostate cancer, identified through the rapid case ascertainment centre of the North Carolina Central Cancer Registry, and controls recruited by friend referral and matched to the cases on age, race and county, each giving a blood sample and completing a food-frequency and a medical and family history questionnaire."; 216; 249; "NCPCS"; ; rdfs:label "North Carolina Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18483 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:412b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18483; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "NCPCS is a population-based case-control study in the Western part of North Carolina (NC)." . _:412c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.839/MediaObjects/41588_2011_BFng839_MOESM33_ESM.pdf"; rdfs:comment "NCPCS North Carolina Prostate Cancer Study USA" . _:412d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:412e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21602798"; "Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21."; "PMID:21602798", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3102788/"; rdfs:comment "Stage 2 included 1,396 cases and 2,383 controls from 7 studies: San Francisco Bay Area Prostate Cancer Study (SFPCS, 86/37), The Flint Men’s Health Study (FMHS, 135/353), The Multiethnic Cohort/Los Angeles County (MEC-LA, 554/557), North Carolina Prostate Cancer Study (NCPCS, 214/249), Wake Forest University Prostate Cancer Study (WFPCS, 59/66), Washington University Prostate Cancer Study (WUPCS, 75/153), and The Ghana Men’s Health Study (GHS, 271/968)." . _:412f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of prostate cancer in 12 contiguous counties of western North Carolina, United States, which from November 2006 to November 2008 recruited men aged 40 to 70 with a new histological diagnosis of prostate cancer, identified through the rapid case ascertainment centre of the North Carolina Central Cancer Registry, and controls recruited by friend referral and matched to the cases on age, race and county, each giving a blood sample and completing a food-frequency and a medical and family history questionnaire."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.839/MediaObjects/41588_2011_BFng839_MOESM33_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 216; "NCPCS contribution described in the 2014 African-ancestry prostate GWAS supplement (2006–2008)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "This study population included 216 cases and 249 controls that were recruited from November 2006 to November 2008." . _:41312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 249; "NCPCS contribution described in the 2014 African-ancestry prostate GWAS supplement (2006–2008)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "This study population included 216 cases and 249 controls that were recruited from November 2006 to November 2008." . _:41322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18492; , , ; "PGS004586", "PMID:38589358"; "A prospective cohort study in China, coordinated by the Second Affiliated Hospital of Zhejiang University, of risk factors and biomarkers across the colorectal cancer continuum from aetiology to survivorship, made up of a screening cohort of people at high risk of colorectal cancer recruited from 2016 to 2020, first in Jiashan County, Zhejiang Province, and a multicentre cohort of patients newly diagnosed with colorectal cancer recruited from 2015 to 2020 at 16 hospitals in 11 provinces and followed up after surgery."; 15551; 19377; "NCRCC", "National ColoRectal Cancer Cohort", "National Colorectal Cancer Cohort study", "National colorectal cancer cohort (China)"; ; rdfs:label "National Colorectal Cancer Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18492 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18492; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8672005/fullTextXML"; rdfs:comment "The NCRCC study includes the Colorectal Cancer Screening Cohort (CRCSC), which recruited individuals who were at high risk of CRC between 2016 and 2020 and Colorectal Cancer Patients Cohort (CRCPC), which recruited newly diagnosed patients with CRC between 2015 and 2020." . _:41342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34903541+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cohort profile: The National Colorectal Cancer Cohort (NCRCC) study in China." . _:41352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004586"; "Integration of pathologic characteristics, genetic risk and lifestyle exposure for colorectal cancer survival assessment."; "PMID:38589358" . _:41362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38589358"; "Integration of pathologic characteristics, genetic risk and lifestyle exposure for colorectal cancer survival assessment."; "PMID:38589358", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11002003/fullTextXML"; rdfs:comment "The subjects in the NJCRC cohort were recruited from the National ColoRectal Cancer Cohort (NCRCC), including 1082 Chinese patients, being part of the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO)." . _:41372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study in China, coordinated by the Second Affiliated Hospital of Zhejiang University, of risk factors and biomarkers across the colorectal cancer continuum from aetiology to survivorship, made up of a screening cohort of people at high risk of colorectal cancer recruited from 2016 to 2020, first in Jiashan County, Zhejiang Province, and a multicentre cohort of patients newly diagnosed with colorectal cancer recruited from 2015 to 2020 at 16 hospitals in 11 provinces and followed up after surgery."; "PMID:34903541", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8672005/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15551; "19377 participants in CRCSC screening arm; 15551 cases in CRCPC patient arm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8672005/fullTextXML"; rdfs:comment "A total of 19 377 participants and 15 551 patients with CRC were recruited in CRCSC and in CRCPC, respectively." . _:41392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19377; "19377 participants in CRCSC screening arm; 15551 cases in CRCPC patient arm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8672005/fullTextXML"; rdfs:comment "A total of 19 377 participants and 15 551 patients with CRC were recruited in CRCSC and in CRCPC, respectively." . _:413a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCRCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18501; , ; "PMID:22693455"; "A type 2 diabetes case-control study in Norfolk, UK, whose cases were men and women with type 2 diabetes identified through general practice diabetes registers and local hospital diabetes clinic and retinal screening programme registers in Norfolk, and whose controls, free of known diabetes, were randomly selected from participants of the EPIC-Norfolk cohort."; 5574; 6950; "NDCCS", "Norfolk Diabetes Case Control Study", "Norfolk Diabetes case-control study", "Norfolk Diabetes case_control study"; rdfs:label "Norfolk Diabetes Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18501 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:413b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18501; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3737432/fullTextXML"; rdfs:comment "We typed the OriB variant by pyrosequencing and sequencing in the Norfolk Diabetes Case–Control Study, which comprised 5,574 type 2 diabetes cases and 6,950 population-based controls." . _:413c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3201934/fullTextXML"; rdfs:comment "The Norfolk Diabetes case-control study is a study of men and women with T2D in Norfolk, UK." . _:413d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22693455"; "Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases."; "PMID:22693455", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3364960/fullTextXML"; rdfs:comment "For Malmo CC, ADDITION-Ely, and Norfolk Diabetes Case Control Study (NDCCS), Taqman assay genotyping was performed." . _:413e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control study in Norfolk, UK, whose cases were men and women with type 2 diabetes identified through general practice diabetes registers and local hospital diabetes clinic and retinal screening programme registers in Norfolk, and whose controls, free of known diabetes, were randomly selected from participants of the EPIC-Norfolk cohort."; "PMID:22039354", "PMID:23702607"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:413f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5574; "NDCCS cases and diabetes-free EPIC-Norfolk controls in the 2013 analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3737432/fullTextXML"; rdfs:comment "We typed the OriB variant by pyrosequencing and sequencing in the Norfolk Diabetes Case–Control Study, which comprised 5,574 type 2 diabetes cases and 6,950 population-based controls." . _:41402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6950; "NDCCS cases and diabetes-free EPIC-Norfolk controls in the 2013 analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3737432/fullTextXML"; rdfs:comment "We typed the OriB variant by pyrosequencing and sequencing in the Norfolk Diabetes Case–Control Study, which comprised 5,574 type 2 diabetes cases and 6,950 population-based controls." . _:41412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NDCCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18509; , ; ; "PMID:22286212"; "A population-based series of patients with Hodgkin lymphoma diagnosed in the northern Netherlands between 1987 and 2009, whose tumours were classified by WHO criteria and Epstein-Barr virus status and whose germline DNA, with that of first-degree relatives of patients diagnosed up to 2000, was used to study HLA associations with Epstein-Barr virus-positive and -negative Hodgkin lymphoma; its classical Hodgkin lymphoma cases were one of the five case series of the European genome-wide association study of classical Hodgkin lymphoma."; 200; "NDHLS"; rdfs:label "Northern Dutch Hodgkin Lymphoma Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18509 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18509; "Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15978930+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Germline DNA was isolated from 200 patients diagnosed between 1987 and 2000 and from their first-degree relatives." . _:41432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "the Northern Dutch Hodgkin Lymphoma Study comprises a population-based case patient series of HL diagnosed in Northern Netherlands between January 1987 and April 2009 (8)." . _:41442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22286212"; "Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups."; "PMID:22286212", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "Genome-wide genotyping was performed on cHL case samples from five European-based HL studies: the EPILYMPH Study, the Scotland and Newcastle Lymphoma Group, the Young Adult Hodgkin’s Disease Case–Control Study, the Scandinavian Lymphoma Etiology Study, and the Northern Dutch Hodgkin Lymphoma Study (Table 1)." . _:41452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based series of patients with Hodgkin lymphoma diagnosed in the northern Netherlands between 1987 and 2009, whose tumours were classified by WHO criteria and Epstein-Barr virus status and whose germline DNA, with that of first-degree relatives of patients diagnosed up to 2000, was used to study HLA associations with Epstein-Barr virus-positive and -negative Hodgkin lymphoma; its classical Hodgkin lymphoma cases were one of the five case series of the European genome-wide association study of classical Hodgkin lymphoma."; "PMID:15978930", "PMID:22286212", "PMID:24920014"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "Northern Dutch patients with germline DNA in the own 1987-2000 HLA series"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15978930+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Germline DNA was isolated from 200 patients diagnosed between 1987 and 2000 and from their first-degree relatives." . _:41472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NDHLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18516; , ; ; "PMID:22426144"; "A hospital-based series of histologically confirmed endometrial cancer cases recruited consecutively from 1992 to 2005 among women presenting for treatment at the Hunter Centre for Gynaecological Cancer, John Hunter Hospital, in Newcastle, New South Wales, Australia, with reproductive and environmental risk factors (including ethnicity) from self-reported questionnaires and recurrence, stage, grade and histology from medical records; from 2005 patients at this site were recruited by the Australian National Endometrial Cancer Study. Its cases were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; 213; "NECS"; rdfs:label "Newcastle Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18516 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18516; "endometrial cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2567988/fullTextXML"; rdfs:comment "This study initially consisted of 213 consecutively recruited women with histologically confirmed endometrial cancer who presented for treatment at the Hunter Centre for Gynaecological Cancer, John Hunter Hospital, Newcastle, New South Wales, Australia between the years 1992 and 2005." . _:41492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "The Newcastle Endometrial Cancer Study (NECS) includes histologically confirmed endometrial cancer cases consecutively recruited from 1992 up to 2005 at the Hunter Centre for Gynaecological Cancer, John Hunter Hospital, Newcastle, New South Wales, Australia" . _:414a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22426144"; "Genome-wide association study identifies a possible susceptibility locus for endometrial cancer."; "PMID:22426144", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3372671/"; rdfs:comment "additional samples from ANECS that were not included in Stage 2 analyzed together with Australian cases recruited into the Newcastle Endometrial Cancer Study (NECS) and Australian controls recruited via the Australian Red Cross Blood Service (ARCBS)" . _:414b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based series of histologically confirmed endometrial cancer cases recruited consecutively from 1992 to 2005 among women presenting for treatment at the Hunter Centre for Gynaecological Cancer, John Hunter Hospital, in Newcastle, New South Wales, Australia, with reproductive and environmental risk factors (including ethnicity) from self-reported questionnaires and recurrence, stage, grade and histology from medical records; from 2005 patients at this site were recruited by the Australian National Endometrial Cancer Study. Its cases were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; "PMID:18822177", "PMID:27135401", "PMID:30093612"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:414c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 213; "NECS consecutively recruited women with endometrial cancer, 1992-2005"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2567988/fullTextXML"; rdfs:comment "This study initially consisted of 213 consecutively recruited women with histologically confirmed endometrial cancer who presented for treatment at the Hunter Centre for Gynaecological Cancer, John Hunter Hospital, Newcastle, New South Wales, Australia between the years 1992 and 2005." . _:414d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18523; , , ; ; "PGS000350", "PMID:22570617"; "A case-control study for a genome-wide association study of primary open-angle glaucoma, run by a consortium of investigators at 12 institutions across the United States, whose cases and controls, aged 35 or over and of European or Hispanic white ancestry, were collected at the 12 sites. Most came from university glaucoma and general ophthalmology clinics, and some from other studies such as the Marshfield Personalized Medicine Research Project and the CIGTS and AGIS glaucoma trials. The case and control definitions were harmonised with the GLAUGEN study, and the clinical data were reviewed centrally at the Massachusetts Eye and Ear Infirmary."; 2517; 2428; "NEI Glaucoma Human genetics collaBORation", "NEIGHBOR", "NEIGHBOR consortium", "NEIGHBOR study", "National Eye Institute (NEI) Glaucoma Human Genetics Collaboration", "National Eye Institute Glaucoma Human Genetics Collaboration study"; ; rdfs:label "National Eye Institute Glaucoma Human Genetics Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18523 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:414e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18523; "primary open-angle glaucoma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3485429/unicode"; rdfs:comment "The NEIGHBOR consortium collected 2,517 POAG cases and 2,428 controls, and an additional 1,000 cases and 1,183 controls were collected for the GLAUGEN study." . _:414f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3485429/"; rdfs:comment "Additionally, 182 individuals of Mexican descent from the Nogales region of Northern Mexico were enrolled as part of the Duke dataset." . _:41502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3485429/"; rdfs:comment "The NEIGHBOR (NEI Glaucoma Human genetics collaBORation) consortium is a unique collaborative effort involving investigators at 12 institutions located throughout the United States." . _:41512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:41522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22570617"; "Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma."; "PMID:22570617", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3343074/fullTextXML"; rdfs:comment "After data cleaning, 976 cases and 1,140 controls collected from three study sites [Nurses' Health Study, Health Professionals Follow-up Study and the Genetic Etiologies of Primary-Open angle Glaucoma Study (GEP)] were analyzed for the GLAUGEN study, and 2,170 cases and 2,347 controls collected from 12 sites (Table S1) were analyzed for the NEIGHBOR study." . _:41532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study for a genome-wide association study of primary open-angle glaucoma, run by a consortium of investigators at 12 institutions across the United States, whose cases and controls, aged 35 or over and of European or Hispanic white ancestry, were collected at the 12 sites. Most came from university glaucoma and general ophthalmology clinics, and some from other studies such as the Marshfield Personalized Medicine Research Project and the CIGTS and AGIS glaucoma trials. The case and control definitions were harmonised with the GLAUGEN study, and the clinical data were reviewed centrally at the Massachusetts Eye and Ear Infirmary."; "PMID:22570617", "PMID:22828004"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2517; "POAG cases and controls collected by the NEIGHBOR consortium (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3485429/unicode"; rdfs:comment "The NEIGHBOR consortium collected 2,517 POAG cases and 2,428 controls, and an additional 1,000 cases and 1,183 controls were collected for the GLAUGEN study." . _:41552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2428; "POAG cases and controls collected by the NEIGHBOR consortium (2012)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3485429/unicode"; rdfs:comment "The NEIGHBOR consortium collected 2,517 POAG cases and 2,428 controls, and an additional 1,000 cases and 1,183 controls were collected for the GLAUGEN study." . _:41562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEIGHBOR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18533; , , , , , ; , ; "PMID:27760082"; "A genome-wide meta-analysis resource for primary open-angle glaucoma that combines summary data from eight independent case-control and population-based datasets of European ancestry from the United States: the NEIGHBOR study, the Nurses' Health Study, the Health Professionals Follow-up Study, the Women's Genome Health Study, the Ocular Hypertension Treatment Study, and collections from Iowa, Marshfield and the Massachusetts Eye and Ear Infirmary. Cases in all datasets were defined by a harmonised glaucoma definition."; 3853; 33480; "NBH", "NEIGHBORHOOD", "NEIGHBORHOOD consortium", "national eye institute glaucoma human collaboration heritable overall operational database"; rdfs:label "National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18533 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18533; "primary open-angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5266624/fullTextXML"; rdfs:comment "The national eye institute glaucoma human collaboration heritable overall operational database (NEIGHBORHOOD) dataset represents a genome-wide meta-analysis summary dataset from eight independent studies, including the Nurses’ Health Study, with a total of 3,853 POAG cases and 33,480 controls of European ancestry from the United States." . _:41582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For the overall NEIGHBORHOOD (NBH), the summary value for the population cohorts (POP; NHS/HPFS/WGHS) are presented separately from the case/control cohorts (CC; Iowa, OHTS (Ocular Hypertension Treatment Study), Marshfield, MEEI, NEIGHBOR)." . _:41592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For the overall NEIGHBORHOOD (NBH), the summary value for the population cohorts (POP; NHS/HPFS/WGHS) are presented separately from the case/control cohorts (CC; Iowa, OHTS (Ocular Hypertension Treatment Study), Marshfield, MEEI, NEIGHBOR)." . _:415a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For the overall NEIGHBORHOOD (NBH), the summary value for the population cohorts (POP; NHS/HPFS/WGHS) are presented separately from the case/control cohorts (CC; Iowa, OHTS (Ocular Hypertension Treatment Study), Marshfield, MEEI, NEIGHBOR)." . _:415b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For the overall NEIGHBORHOOD (NBH), the summary value for the population cohorts (POP; NHS/HPFS/WGHS) are presented separately from the case/control cohorts (CC; Iowa, OHTS (Ocular Hypertension Treatment Study), Marshfield, MEEI, NEIGHBOR)." . _:415c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For the overall NEIGHBORHOOD (NBH), the summary value for the population cohorts (POP; NHS/HPFS/WGHS) are presented separately from the case/control cohorts (CC; Iowa, OHTS (Ocular Hypertension Treatment Study), Marshfield, MEEI, NEIGHBOR)." . _:415d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For all 8 NEIGHBORHOOD studies cases were primarily defined as at least 1 reliable visual field showing loss consistent with glaucoma, without a secondary cause, or CDR (cup-to-disc ratio) ≥ 0.7 or CDR asymmetry ≥ 0.2 or documented progression of optic nerve degeneration (in the Ocular Hypertension Treatment Study [OHTS])." . _:415e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5266624/fullTextXML"; rdfs:comment "The national eye institute glaucoma human collaboration heritable overall operational database (NEIGHBORHOOD) dataset represents a genome-wide meta-analysis summary dataset from eight independent studies, including the Nurses’ Health Study, with a total of 3,853 POAG cases and 33,480 controls of European ancestry from the United States." . _:415f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27760082"; "Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample."; "PMID:27760082", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27760082+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Subsequently, to assess the relation with POAG, we used data from 2,160 female POAG cases and 29,110 controls in the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (NEIGHBORHOOD), which consists of 8 datasets with imputed genotypes to 5.6+ million markers." . _:41602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide meta-analysis resource for primary open-angle glaucoma that combines summary data from eight independent case-control and population-based datasets of European ancestry from the United States: the NEIGHBOR study, the Nurses' Health Study, the Health Professionals Follow-up Study, the Women's Genome Health Study, the Ocular Hypertension Treatment Study, and collections from Iowa, Marshfield and the Massachusetts Eye and Ear Infirmary. Cases in all datasets were defined by a harmonised glaucoma definition."; "PMID:26752265", "PMID:27760082"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3853; "POAG cases and controls in the 8-dataset discovery meta-analysis (2016)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "To identify new susceptibility loci, we meta-analyzed GWAS results from 8 independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significant SNPs in two Australian studies (1,252 cases and 2,592 controls), 3 European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls)." . _:41622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 33480; "POAG cases and controls in the 8-dataset discovery meta-analysis (2016)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "To identify new susceptibility loci, we meta-analyzed GWAS results from 8 independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significant SNPs in two Australian studies (1,252 cases and 2,592 controls), 3 European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls)." . _:41632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NBH"; . _:41642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEIGHBORHOOD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18548, _:genid-371333f489424440b12a13b9d98ced822608-genid18550; , ; ; "PGS000740", "PMID:28604730"; "A population-based case-control study of lung cancer, based at Dartmouth College, among residents of northern and central New Hampshire counties and the bordering region of Vermont, United States, in which cases of histologically confirmed primary incident lung cancer were identified from 2005 to 2007 through the New Hampshire State Cancer Registry and the Dartmouth-Hitchcock Medical Center Tumor Registry, and controls identified from a commercial database were matched to them on five-year age group, sex and county."; 277; 251; 528; "NELCS"; ; rdfs:label "New England Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18548 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18550 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18548; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Cases with histologically confirmed primary incident lung cancer were identified from 2005 to 2007 using the New Hampshire State Cancer Registry and the Dartmouth-Hitchcock Medical Center (DHMC) Tumor Registry." . _:41662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18550; "arsenic in drinking water"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2801179/fullTextXML"; rdfs:comment "In this study, we used toenail arsenic concentration as a biomarker of exposure to examine the risk of lung cancer among persons in the U.S. population who had been exposed to low levels of arsenic in drinking water." . _:41672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NELCS New England Lung Cancer Study Dartmouth College A. Andrew USA Pop. CC 2005-2007" . _:41682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:41692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NELCS is a population-based case-control study of lung cancer among residents of Northern and Central New Hampshire counties and the bordering region of Vermont." . _:416a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of lung cancer, based at Dartmouth College, among residents of northern and central New Hampshire counties and the bordering region of Vermont, United States, in which cases of histologically confirmed primary incident lung cancer were identified from 2005 to 2007 through the New Hampshire State Cancer Registry and the Dartmouth-Hitchcock Medical Center Tumor Registry, and controls identified from a commercial database were matched to them on five-year age group, sex and county."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:416b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 277; "NELCS participants who completed interviews before toenail and data exclusions, 2005-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2801179/fullTextXML"; rdfs:comment "Of the 454 eligible cases, 24 (5%) could not be reached because of an inaccurate address or phone number, 52 (11%) were too ill to be interviewed, and 101 (22%) refused to participate, which yielded 277 subjects and a 61% participation rate." . _:416c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 251; "NELCS participants who completed interviews before toenail and data exclusions, 2005-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2801179/fullTextXML"; rdfs:comment "A total of 251 controls completed the interview for a 46% participation rate." . _:416d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 528; "NELCS participants who completed interviews before toenail and data exclusions, 2005-2007"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2801179/fullTextXML"; rdfs:comment "Of the 528 participants, we excluded from the analysis 62 who did not provide a toenail sample and 2 (< 1%) whose toenail selenium could not be analyzed." . _:416e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NELCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18560; , ; "PMID:35913550"; "A psychiatric epidemiological population study of non-institutionalised Dutch adults, conducted by the Trimbos Institute in Utrecht, that interviews representative samples drawn by multistage, stratified random sampling (NEMESIS-1 from 1996 and NEMESIS-2 from 2007, aged 18-64, the latter with DNA from saliva, and NEMESIS-3 from 2019, aged 18-75) with the Composite International Diagnostic Interview and follows them up to determine the prevalence, incidence, course and consequences of mental disorders."; 6646; "NEMESIS", "NEMESIS-Study"; rdfs:label "Netherlands Mental Health Survey and Incidence Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18560 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:416f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18560; "mental disorders"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6878518/"; rdfs:comment "The main objectives of the new study are to provide up‐to‐date figures on the prevalence, incidence, course and consequences of mental disorders, and to study trends in mental disorders and service use, with the use of a new sample." . _:41702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9555131+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A representative sample of 7076 adults (18-64 years) in the Netherlands' population were interviewed in 1996 to determine the prevalence of mental disorders ever, in the previous 12 months and in the previous month." . _:41712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35913550"; "Age- and sex-specific associations between risk scores for schizophrenia and self-reported health in the general population."; "PMID:35913550", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9845157/fullTextXML"; rdfs:comment "Participants were from the population-based Netherlands Mental Health Survey and Incidence Study–2 (NEMESIS-2)." . _:41722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A psychiatric epidemiological population study of non-institutionalised Dutch adults, conducted by the Trimbos Institute in Utrecht, that interviews representative samples drawn by multistage, stratified random sampling (NEMESIS-1 from 1996 and NEMESIS-2 from 2007, aged 18-64, the latter with DNA from saliva, and NEMESIS-3 from 2019, aged 18-75) with the Composite International Diagnostic Interview and follows them up to determine the prevalence, incidence, course and consequences of mental disorders."; "PMID:20641046", "PMID:35913550", "PMID:42687372", "PMID:9555130", "PMID:9857790"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6646; "respondents at the 2007-2009 baseline of NEMESIS-2, the second of the study's three independent samples"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6878518/"; rdfs:comment "Its baseline wave included 6646 subjects." . _:41742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NEMESIS"; . a owl:NamedIndividual, ; ; "NetOCS"; ; rdfs:label "Netherlands Ovarian Cancer Study"@en . _:41752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NetOCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. In the only paper the PGS Catalog records the id in (PMID:33958783), NET-PD is the NET-PD Long-term Study-1. Replaced by COHO:0001161 (National Institute of Neurological Disorders and Stroke Exploratory Trials in Parkinson's Disease Long-Term Study-1), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Neuroprotection Exploratory Trials in Parkinson's disease"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18568; , ; "PGS001800", "PMID:32649918"; "A multicentre randomised clinical trial in the United States that compared medical therapy, including pulmonary rehabilitation, with medical therapy plus lung-volume-reduction surgery in former smokers with severe bilateral emphysema and severe airflow obstruction, with survival as its primary outcome."; 1218; "NETT"; ; rdfs:label "National Emphysema Treatment Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18568 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18568; "severe bilateral emphysema"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10593802+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The National Emphysema Treatment Trial is a multicenter, randomized clinical trial of medical therapy vs medical therapy plus lung volume reduction surgery (LVRS) for the treatment of patients with severe bilateral emphysema." . _:41772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2650282/fullTextXML"; rdfs:comment "389 subjects from the US National Emphysema Treatment Trial (NETT)" . _:41782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001800"; "Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts."; "PMID:32649918" . _:41792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32649918"; "Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts."; "PMID:32649918", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7429152/fullTextXML"; rdfs:comment "Case-control studies included COPDGene (non-Hispanic white and African American participants),23 ECLIPSE,24 NETT25 and Normative Aging Study (NAS),26 SPIROMICS,27, 28 and the Lung Health Study (LHS).29, 30" . _:417a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised clinical trial in the United States that compared medical therapy, including pulmonary rehabilitation, with medical therapy plus lung-volume-reduction surgery in former smokers with severe bilateral emphysema and severe airflow obstruction, with survival as its primary outcome."; "PMID:10593802", "PMID:12759479", "PMID:19300482", "PMID:32649918"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:417b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1218; "patients with severe emphysema randomly assigned to lung-volume-reduction surgery or continued medical treatment"; "PMID:12759479"; rdfs:comment "A total of 1218 patients with severe emphysema underwent pulmonary rehabilitation and were randomly assigned to undergo lung-volume-reduction surgery or to receive continued medical treatment." . _:417c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NETT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18576; , ; "PGS000723", "PMID:21750109"; "An ongoing hospital-based case-control study of urinary bladder cancer at the Department of Urology of the Lukasklinik Neuss, Germany, about 20 km from the Ruhr area, which from June 2009 collected bladder cancer patients, with tumour stage and grade from the cancer registry, and cancer-free controls."; 217; 105; "NeuBCS", "The Neuss Bladder Cancer Study"; ; rdfs:label "Neuss bladder cancer study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18576 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:417d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18576; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The ongoing case–control series consists of 217 bladder cancer cases and 105 controls from the Department of Urology, Lukasklinik Neuss, Germany, located ∼20 km from the Ruhr area." . _:417e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The ongoing case–control series consists of 217 bladder cancer cases and 105 controls from the Department of Urology, Lukasklinik Neuss, Germany, located ∼20 km from the Ruhr area." . _:417f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000723"; "Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers."; "PMID:32596635" . _:41802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21750109"; "European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene."; "PMID:21750109", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "Germany—Neuss (216/104) 0.56 0.50 1.29 0.92–1.79 0.14" . _:41812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing hospital-based case-control study of urinary bladder cancer at the Department of Urology of the Lukasklinik Neuss, Germany, about 20 km from the Ruhr area, which from June 2009 collected bladder cancer patients, with tumour stage and grade from the cancer registry, and cancer-free controls."; "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 217; "Ongoing Neuss case-control series reported in 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The ongoing case–control series consists of 217 bladder cancer cases and 105 controls from the Department of Urology, Lukasklinik Neuss, Germany, located ∼20 km from the Ruhr area." . _:41832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 105; "Ongoing Neuss case-control series reported in 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The ongoing case–control series consists of 217 bladder cancer cases and 105 controls from the Department of Urology, Lukasklinik Neuss, Germany, located ∼20 km from the Ruhr area." . _:41842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NeuBCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. NEURO2006 is a funding programme, the 2006 neuroscience call of the French Agence Nationale de la Recherche, which funded the French bipolar disorder sample among other projects (PMID:19125158). Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete NEURO2006"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18585; , ; "PMID:29494586"; "A study initiated in 2011 that consecutively recruited, until 2017, patients undergoing total knee or hip replacement, largely for osteoarthritis, at St. Clare's Mercy Hospital and the Health Science Centre General Hospital in St. John's, Newfoundland and Labrador, Canada. It collects blood before surgery and follows the patients up after it, to identify genetic, epigenetic and biochemical markers for osteoarthritis."; 1086; "NFOAS"; rdfs:label "Newfoundland Osteoarthritis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18585 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18585; "osteoarthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5849325/fullTextXML"; rdfs:comment "The NFOAS recruited OA patients who underwent a total knee replacement surgery due to primary OA between November 2011 and December 2013 at the St. Clare’s Mercy Hospital and Health Science Centre General Hospital in St. John’s, the capital city of Newfoundland and Labrador (NL), Canada." . _:41862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5849325/fullTextXML"; rdfs:comment "The NFOAS recruited OA patients who underwent a total knee replacement surgery due to primary OA between November 2011 and December 2013 at the St. Clare’s Mercy Hospital and Health Science Centre General Hospital in St. John’s, the capital city of Newfoundland and Labrador (NL), Canada." . _:41872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29494586"; "An evolutionary learning and network approach to identifying key metabolites for osteoarthritis."; "PMID:29494586", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5849325/fullTextXML"; rdfs:comment "Applied to the Newfoundland Osteoarthritis Study (NFOAS) dataset, our methodology was able to identify nine key metabolites including some known osteoarthritis-associated metabolites and some novel metabolic markers that have never been reported before." . _:41882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study initiated in 2011 that consecutively recruited, until 2017, patients undergoing total knee or hip replacement, largely for osteoarthritis, at St. Clare's Mercy Hospital and the Health Science Centre General Hospital in St. John's, Newfoundland and Labrador, Canada. It collects blood before surgery and follows the patients up after it, to identify genetic, epigenetic and biochemical markers for osteoarthritis."; "PMID:29494586", "PMID:31743460", "PMID:40608839"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1086; "patients undergoing total knee or hip arthroplasty recruited November 2011 to February 2017 (2011-2017)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12225861/fullTextXML"; rdfs:comment "The study participants were derived from the Newfoundland Osteoarthritis Study (NFOAS) which recruited 1086 patients aged at least 20 years old who underwent total knee or hip arthroplasty largely due to osteoarthritis (OA) with a small number of patients due to other joint diseases between 30/11/2011 and 05/02/2017 in St. Clare’s Mercy Hospital and Health Science Centre General Hospital in St. John’s, Newfoundland and Labrador (NL), Canada [10]." . _:418a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFOAS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. NHMRC is Australia's National Health and Medical Research Council, and the Australian NHMRC program a funding programme: the bipolar disorder GWAS of PMID:21353194 credits it with the recruitment of its Australian sample. A funder, not a cohort. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Australian NHMRC program"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. NHS3 is the third Nurses' Health Study case-control set of the colorectal cancer GWAS of PMID:29917119, beside HPFS3, not the Nurses' Health Study 3 cohort begun in 2010, which could not have supplied its cases. The Catalog's name for it, Nurses Health Study III, names that other cohort and is not carried over. Replaced by COHO:0000456 (Nurses' Health Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Nurses Health Study III"@en; owl:deprecated true . a owl:NamedIndividual, ; , , ; "PMID:18599522"; "A population-based, cross-sectional survey conducted between September and November 1998 of Chinese, Malay and Asian Indian Singapore residents aged 18-69, based on the World Health Organization model for field surveys of diabetes and other noncommunicable diseases and the WHO MONICA protocol, with interviewer-administered questionnaires, anthropometric and blood pressure measurements and fasting blood samples."; 4723; "1998 Singapore National Health Study", "NHS98", "Singapore National Health Survey"; rdfs:label "1998 Singapore National Health Survey"@en . _:418b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2682664/fullTextXML"; rdfs:comment "The reference population was 2.16 million Chinese, Malay, and Asian Indian Singapore residents aged between 18 and 69 years." . _:418c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18599522"; "FTO variants are associated with obesity in the Chinese and Malay populations in Singapore."; "PMID:18599522", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2551698/fullTextXML"; rdfs:comment "We examined associations between nine previously reported FTO single nucleotide polymorphisms (SNPs) with obesity, type 2 diabetes, and related traits in 4,298 participants (2,919 Chinese, 785 Malays, and 594 Asian Indians) from the 1998 Singapore National Health Survey (NHS98) and 2,996 Malays from the Singapore Malay Eye Study (SiMES)." . _:418d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, cross-sectional survey conducted between September and November 1998 of Chinese, Malay and Asian Indian Singapore residents aged 18-69, based on the World Health Organization model for field surveys of diabetes and other noncommunicable diseases and the WHO MONICA protocol, with interviewer-administered questionnaires, anthropometric and blood pressure measurements and fasting blood samples."; "PMID:18599522", "PMID:19252135"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:418e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4723; "participants of the 1998 survey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2682664/fullTextXML"; rdfs:comment "The study used data from the cross-sectional population-based 1998 Singapore National Health Survey (NHS98; n = 4,723)." . _:418f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS98"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18597; , ; ; ; "PGS000785", "PMID:26151821"; "The advanced colorectal adenoma case-control sample of the Nurses' Health Study, United States, genotyped for the Genetics and Epidemiology of Colorectal Cancer Consortium: participants with an advanced adenoma (1 cm or larger, or with tubulovillous or villous histology, high-grade dysplasia or carcinoma in situ) confirmed by medical record review, matched to participants who had a lower endoscopy in the same period without an adenoma on year of birth, date of blood sampling, reason for the endoscopy and timing of any prior endoscopy."; 513; 578; 1091; "NHS (Advanced Adenoma)", "NHS Ad", "NHS_Ad", "Nurses Health Study, Adenoma Set"; ; rdfs:label "Nurses' Health Study advanced adenoma set"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18597 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18597; "advanced adenoma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000785"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:41942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26151821"; "Genome-wide association study of colorectal cancer identifies six new susceptibility loci."; "PMID:26151821", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The advanced colorectal adenoma case-control sample of the Nurses' Health Study, United States, genotyped for the Genetics and Epidemiology of Colorectal Cancer Consortium: participants with an advanced adenoma (1 cm or larger, or with tubulovillous or villous histology, high-grade dysplasia or carcinoma in situ) confirmed by medical record review, matched to participants who had a lower endoscopy in the same period without an adenoma on year of birth, date of blood sampling, reason for the endoscopy and timing of any prior endoscopy."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0286-6/MediaObjects/41588_2018_286_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 513; "NHS advanced-adenoma OmniExpress analysis in the 2015 GECCO table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 578; "NHS advanced-adenoma OmniExpress analysis in the 2015 GECCO table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1091; "NHS advanced-adenoma OmniExpress analysis in the 2015 GECCO table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "NHS (Advanced Adenoma) USA Cohort 513 100 578 100 1,091 Illumina OmniExpress" . _:41992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS Ad"; . _:419a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS_Ad"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. NHS-egems is the Catalog's misspelling of NHS-cgems, the label the age-at-menopause GWAS of PMID:22267201 gives the Nurses' Health Study's breast cancer GWAS set, genotyped by the CGEMS project; that paper lists the Nurses' Health Study as exactly two sets, NHS-cgems and NHS-Hu. Replaced by COHO:0000456 (Nurses' Health Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete NHS-egems"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. NHS-Hu is the label the age-at-menopause GWAS of PMID:22267201 gives the Nurses' Health Study's type 2 diabetes GWAS set. Replaced by COHO:0000456 (Nurses' Health Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete NHS-Hu"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. NIA is the PGS Catalog's name for the US National Institute on Aging, an NIH research funding institute, and no PGS Catalog score or sample set uses the id, so no study sample stands behind it. Every Europe PMC hit is about the institute (grant mechanisms, workshops), not a cohort. Cohorts the institute sponsors already have their own terms (the NIA Late Onset Alzheimer's Disease Family Study COHO:0000669, the NIA Long Life Family Study in COHO:0000513), but nothing links this id to either one. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete National Institute on Aging"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Norfolk Island Cohort is what the Norfolk Island Health Study's papers call its sample (PMID:26628212, PMID:37886940). Replaced by COHO:0002153 (Norfolk Island Health Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Norfolk Island Cohort"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-25. The Clalit National Israeli Cancer Control Center is an institution that runs several separate studies, not a cohort; found when the IHCC Cohort Atlas's entry NICCC was checked (see src/curation/ihcc_atlas_review.tsv). Found by the IHCC Cohort Atlas review, 2026-09-25."@en; rdfs:label "obsolete National Israeli Cancer Control Center"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18609; , ; ; "PGS000740", "PMID:28604730"; "An ongoing population-based case-control study of lung cancer in Israel, run since 2005 by the Clalit National Israeli Cancer Control Center with Carmel Medical Center and the Technion, of newly diagnosed lung cancer cases of any histology and controls matched to them on age, sex and ethnicity, all interviewed face to face and giving a blood sample, with histology, tumour blocks and clinical follow-up available for most cases."; 714; 554; 1268; "Clalit National Israeli Cancer Control Center- lung cancer study", "Israel Lung Cancer Study", "NICCC-LCA"; ; rdfs:label "Clalit National Israeli Cancer Control Center lung cancer study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18609 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:419b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18609; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The NICCC-LCA study is an ongoing case-control study of newly diagnosed lung cancer cases of any histology and population age/sex/ethnicity-matched \"healthy\" controls." . _:419c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Israel study (NICCC-LCA)." . _:419d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:419e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The NICCC-LCA study is an ongoing case-control study of newly diagnosed lung cancer cases of any histology and population age/sex/ethnicity-matched \"healthy\" controls." . _:419f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing population-based case-control study of lung cancer in Israel, run since 2005 by the Clalit National Israeli Cancer Control Center with Carmel Medical Center and the Technion, of newly diagnosed lung cancer cases of any histology and controls matched to them on age, sex and ethnicity, all interviewed face to face and giving a blood sample, with histology, tumour blocks and clinical follow-up available for most cases."; "PMID:25924736", "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 714; "unique NICCC-LCA subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NICCC-LCA Clalit National Israeli Cancer Control Center- lung cancer study Carmel Medical Center & Technion G. Rennert Israel/ Europe Pop.CC 2005-ongoing 714 554 1268 25924736" . _:41a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 554; "unique NICCC-LCA subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NICCC-LCA Clalit National Israeli Cancer Control Center- lung cancer study Carmel Medical Center & Technion G. Rennert Israel/ Europe Pop.CC 2005-ongoing 714 554 1268 25924736" . _:41a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1268; "unique NICCC-LCA subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "NICCC-LCA Clalit National Israeli Cancer Control Center- lung cancer study Carmel Medical Center & Technion G. Rennert Israel/ Europe Pop.CC 2005-ongoing 714 554 1268 25924736" . _:41a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NICCC-LCA"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. NICR is the PGS Catalog's id for 23 childhood B-cell precursor acute lymphoblastic leukaemia cases, with no study name, from the Northern Institute for Cancer Research (Leukaemia Research Group, Newcastle University, UK). They were included in the UK-GWAS of PMID:27694927 ('23 cases from the Northern Institute for Cancer Research (16 males)'). This is an institute's unnamed handful of cases, not a named cohort. The other UK-GWAS samples already have COHO terms or are other catalog ids: UK Childhood Cancer Study COHO:0000178, 1958 British Birth Cohort COHO:0000207, WTCCC COHO:0000182. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Northern Institute for Cancer Research"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id Nigerian (Nigerian cohort) names only a nationality: no score uses it, and every paper found by the name uses the phrase for an unrelated, unnamed sample. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Nigerian cohort"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18619; , ; "PMID:41751589"; "A population-based study established in 2000 of volunteers from Norfolk Island, a genetic isolate descended from a small admixed founder group of European and Polynesian ancestry, with questionnaires on lifestyle, medical and family history, anthropometric measurements, blood samples and a reconstructed multi-generational pedigree, to investigate genetic risk factors for complex diseases such as cardiovascular disease."; 1199; "NIC", "NIHS", "Norfolk Island Cohort", "Norfolk Island Health study", "Norfolk Island cohort"; rdfs:label "Norfolk Island Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18619 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18619; "cardiovascular diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8484585/fullTextXML"; rdfs:comment "However, because the initial aim of the Norfolk Island Health Study (NIHS) was to study cardiovascular diseases, only serum biomarkers were collected." . _:41a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4667444/fullTextXML"; rdfs:comment "Located in the Pacific Ocean between Australia and New Zealand, the unique population isolate of Norfolk Island has been shown to exhibit increased prevalence of metabolic disorders (type-2 diabetes, cardiovascular disease) compared to mainland Australia." . _:41a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41751589"; "An ACOT4 Multi-Nucleotide Variant Is Associated with Cardiovascular Risk in Norfolk Island and UK Biobank Cohorts."; "PMID:41751589", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41751589+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We leveraged the population genetic features of the Norfolk Island Health Study (NIHS, n = 601), to identify candidate functional variants which were analysed for association with CVD and metabolic syndrome traits." . _:41a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study established in 2000 of volunteers from Norfolk Island, a genetic isolate descended from a small admixed founder group of European and Polynesian ancestry, with questionnaires on lifestyle, medical and family history, anthropometric measurements, blood samples and a reconstructed multi-generational pedigree, to investigate genetic risk factors for complex diseases such as cardiovascular disease."; "PMID:26628212", "PMID:41751589"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1199; "Norfolk Islanders with data and samples collected by 2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4667444/fullTextXML"; rdfs:comment "To date the Norfolk Island Health Study (NIHS) has collected data and samples for 1199 Norfolk Islanders, 52 % (N = 624) of whom were found to have direct links to the original founders." . _:41a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIC"; . _:41aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIHS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Nijmegen is a city: the PGS Catalog cohort id Nijmegen is a prostate cancer sample listed by city (alongside the Nijmegen Biomedical Study, NBS, as its controls) in the deCODE replication sets behind PGS000082 and PGS000793, with no study name. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Nijmegen"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The NIMH Intramural Research Program is the in-house research division of the US National Institute of Mental Health, which papers name as an affiliation, a funder or the host of several distinct collections; no score in the PGS Catalog uses the id. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete NIMH Intramural Research Program"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18627; , ; ; "PMID:19416921"; "A case–control sample for genome-wide association studies of bipolar disorder in the United States, assembled by the Pritzker Neuropsychiatric Disorders Research Consortium: its cases, of non-Ashkenazi European origin with bipolar I disorder, came from the NIMH Human Genetics Initiative repository, selected where possible as pairs of affected siblings from families collected in its multicentre bipolar family study, and from the University of Michigan Prechter Bipolar Genetics Repository; its controls came from the NIMH repository and reported no diagnosis of or treatment for bipolar disorder or schizophrenia and said they had not heard voices that others could not hear, with suspected major depression excluded. It is one of the bipolar disorder samples of the Psychiatric Genomics Consortium."; 1177; 772; "NIMH RGR Bipolar Study 2 (Pritzker)", "NIMH/Pritzker", "PNDRC"; rdfs:label "Pritzker Neuropsychiatric Disorders Research Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18627 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18627; "bipolar I disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2678639/"; rdfs:comment "For the NIMH/Pritzker GWAS, 1,177 BP I cases (473 sibling pairs and 231 unrelated individuals) from the NIMH and Prechter Repositories and 772 controls from the NIMH Repository (Table 1) were genotyped on the Illumina HumanHap 550K chip; 512,844 autosomal SNPs passed QC (see Methods) and had minor allele frequency (MAF)≥1%." . _:41ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6432650/"; rdfs:comment "19416921 [PGC1] | Michigan, USA (Pritzker and NIMH) | bip_mich_eur" . _:41ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19416921"; "Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry."; "PMID:19416921", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2678639/"; rdfs:comment "We analyzed the NIMH/Pritzker and GSK GWAS samples separately and performed a 2-study meta-analysis." . _:41ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control sample for genome-wide association studies of bipolar disorder in the United States, assembled by the Pritzker Neuropsychiatric Disorders Research Consortium: its cases, of non-Ashkenazi European origin with bipolar I disorder, came from the NIMH Human Genetics Initiative repository, selected where possible as pairs of affected siblings from families collected in its multicentre bipolar family study, and from the University of Michigan Prechter Bipolar Genetics Repository; its controls came from the NIMH repository and reported no diagnosis of or treatment for bipolar disorder or schizophrenia and said they had not heard voices that others could not hear, with suspected major depression excluded. It is one of the bipolar disorder samples of the Psychiatric Genomics Consortium."; "PMID:19416921", "PMID:21926972", "PMID:29906448"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1177; "bipolar I cases and NIMH repository controls genotyped for the sample's own GWAS (2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2678639/"; rdfs:comment "For the NIMH/Pritzker GWAS, 1,177 BP I cases (473 sibling pairs and 231 unrelated individuals) from the NIMH and Prechter Repositories and 772 controls from the NIMH Repository (Table 1) were genotyped on the Illumina HumanHap 550K chip; 512,844 autosomal SNPs passed QC (see Methods) and had minor allele frequency (MAF)≥1%." . _:41b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 772; "bipolar I cases and NIMH repository controls genotyped for the sample's own GWAS (2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2678639/"; rdfs:comment "For the NIMH/Pritzker GWAS, 1,177 BP I cases (473 sibling pairs and 231 unrelated individuals) from the NIMH and Prechter Repositories and 772 controls from the NIMH Repository (Table 1) were genotyped on the Illumina HumanHap 550K chip; 512,844 autosomal SNPs passed QC (see Methods) and had minor allele frequency (MAF)≥1%." . _:41b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIMH/Pritzker"; . _:41b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PNDRC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. NINCDS-ADRDA is a set of diagnostic criteria for Alzheimer's disease, which studies cite for how their cases were diagnosed, not a sample. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Disorders and Stroke and the Alzheimers Disease and Related Disorders Association"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18636, _:genid-371333f489424440b12a13b9d98ced822608-genid18638; , ; ; "PMID:22886559"; "A population-based case-control study of primary intracranial glioma, initiated in 1995 by the US National Institute for Occupational Safety and Health among adults aged 18 to 80 living in non-metropolitan counties of Iowa, Michigan, Minnesota and Wisconsin, to evaluate associations of glioma with farm and rural exposures, pesticides above all. Its cases had histologically confirmed glioma diagnosed from January 1995 to January 1997, and its controls, frequency-matched within state, were drawn from driver's licence and identification records (ages 18–64) and Medicare data (ages 65–80); its participants' DNA was later genotyped in National Cancer Institute genome-wide studies of glioma and of clonal mosaicism."; 798; 1175; 1973; "NIOSH Upper Midwest Health Study", "NIOSH-UMHS", "NIOSH_AGCC", "National Institute for Occupational Safety and Health Upper Midwest Health Study", "UMHS"; rdfs:label "Upper Midwest Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18636; "glioma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3406961/"; rdfs:comment "The study included 798 histologically confirmed primary intracranial glioma cases (45 % with proxy respondents) and 1,175 population-based controls, all adult (age 18–80) non-metropolitan residents of Iowa, Michigan, Minnesota, and Wisconsin." . _:41b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18638; "pesticides"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3406961/"; rdfs:comment "The primary objective of the UMHS was to determine if pesticides were associated with an increased risk of glioma, the most common type of brain tumor in adults [13]." . _:41b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2270/MediaObjects/41588_2012_BFng2270_MOESM14_ESM.pdf"; rdfs:comment "National Institute for Occupational Safety and Health Upper Mid-west Health Study 60 NIOSH- UMHS Case-control Hospital- based 298 525 Blood Iowa, Michigan, Minnesota, Wisconsin, USA" . _:41b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22886559"; "Genome-wide association study of glioma and meta-analysis."; "PMID:22886559", "https://doi.org/10.1007/s00439-012-1212-0"; rdfs:comment "The mean age of cases ranged from 48.7 years in the NIOSH Upper Midwest Health Study to 73.5 years in the Multi-Ethnic Cohort." . _:41b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of primary intracranial glioma, initiated in 1995 by the US National Institute for Occupational Safety and Health among adults aged 18 to 80 living in non-metropolitan counties of Iowa, Michigan, Minnesota and Wisconsin, to evaluate associations of glioma with farm and rural exposures, pesticides above all. Its cases had histologically confirmed glioma diagnosed from January 1995 to January 1997, and its controls, frequency-matched within state, were drawn from driver's licence and identification records (ages 18–64) and Medicare data (ages 65–80); its participants' DNA was later genotyped in National Cancer Institute genome-wide studies of glioma and of clonal mosaicism."; "PMID:15866761", "PMID:17131948", "PMID:22561519", "PMID:22691464", "PMID:22715102", "PMID:22886559"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 798; "Consenting participants in the original Upper Midwest Health Study; cases diagnosed January1995–January1997 and interviews conducted1995–1998"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4530494/"; rdfs:comment "Among eligible potential participants, 70.4% of 1,669 controls and 91.5% of 872 cases (or their next-of-kin) agreed to participate, resulting in a study population of 1,175 controls and 798 cases" . _:41b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1175; "Consenting participants in the original Upper Midwest Health Study; cases diagnosed January1995–January1997 and interviews conducted1995–1998"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4530494/"; rdfs:comment "Among eligible potential participants, 70.4% of 1,669 controls and 91.5% of 872 cases (or their next-of-kin) agreed to participate, resulting in a study population of 1,175 controls and 798 cases" . _:41ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1973; "Consenting participants in the original Upper Midwest Health Study; cases diagnosed January1995–January1997 and interviews conducted1995–1998"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4530494/"; rdfs:comment "The jobs dataset contained 12,145 records (participant-jobs) for 1,967 of the 1,973 participants (6 participants were 16 years of age in 1993 with no jobs recorded), including over 4,000 records of gaps in the work histories." . _:41bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIOSH-UMHS"; . _:41bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIOSH_AGCC"; . _:41bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMHS"; . a owl:NamedIndividual, ; , , ; "PGS004582", "PMID:38064665"; "A cohort of pregnant women recruited in 2020 and 2021 through the pregnancy screening programme of Shenzhen Baoan Women's and Children's Hospital in Shenzhen, China, whose non-invasive prenatal testing (NIPT) was sequenced at greater depth than conventional NIPT, and whose genotypes and hospital records are used to replicate and validate genetic studies of pregnancy traits such as platelet counts, gestational thrombocytopenia and gestational diabetes."; 5897; "NIPT PLUS", "NIPT PLUS pregnancy cohort", "Shenzhen Maternal and Neonatal NIPT PLUS cohort"; ; rdfs:label "NIPT PLUS cohort"@en . _:41be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1007%2Fs00125-023-06065-5/MediaObjects/125_2023_6065_MOESM1_ESM.pdf"; rdfs:comment "In addition to the previously mentioned participants, we collected data from 4,688 individuals who sought maternity check-ups at Shenzhen Baoan Women’s and Children’s Hospital (Shenzhen, China) throughout the entire 40-week gestational period." . _:41bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004582"; "Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia."; "PMID:38064665" . _:41c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38064665"; "Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia."; "PMID:38064665", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11033587/fullTextXML"; rdfs:comment "We derived polygenic risk score (PRS) models in an independent NIPT PLUS cohort with 4642 pregnant women (these participants are characterized by a deeper sequencing depth in comparison to conventional NIPT)." . _:41c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of pregnant women recruited in 2020 and 2021 through the pregnancy screening programme of Shenzhen Baoan Women's and Children's Hospital in Shenzhen, China, whose non-invasive prenatal testing (NIPT) was sequenced at greater depth than conventional NIPT, and whose genotypes and hospital records are used to replicate and validate genetic studies of pregnancy traits such as platelet counts, gestational thrombocytopenia and gestational diabetes."; "PMID:38064665", "PMID:38372780", "PMID:40325049", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11033587/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5897; "pregnant women with deeper-sequenced NIPT in 2020-2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12053562/fullTextXML"; rdfs:comment "The GWAS results were replicated in two independent cohorts: the Baoan 20K cohort (n = 20,439) and the NIPT PLUS cohort (n = 5897) (Supplementary Notes)." . _:41c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIPT PLUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18655, _:genid-371333f489424440b12a13b9d98ced822608-genid18657; , ; ; "PGS000082", "PMID:21943063"; "A population-based case-control study of epithelial ovarian cancer in New Jersey, United States, run by the Cancer Institute of New Jersey, whose cases were women with newly diagnosed invasive epithelial ovarian cancer living in six New Jersey counties, identified from January 2004 to May 2008 through the New Jersey State Cancer Registry, and whose controls were those of the EDGE (Estrogen, Diet, Genetics, and Endometrial Cancer) Study. It was designed to study phytoestrogens and ovarian cancer risk and is one of the studies of the Ovarian Cancer Association Consortium (study code NJO)."; 233; 467; "NJ Ovarian Cancer Study", "NJO", "NJOCS"; ; rdfs:label "New Jersey Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18655 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18657 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18655; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3196697/fullTextXML"; rdfs:comment "Cases were newly diagnosed histologically confirmed cases of invasive epithelial ovarian cancer identified between January 2004 and May 2008 through rapid case ascertainment by the New Jersey State Cancer Registry (NJSCR), a population-based SEER cancer registry that has collected data since 1978." . _:41c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18657; "phytoestrogens"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3196697/fullTextXML"; rdfs:comment "We conducted a population-based case-control study, the NJ Ovarian Cancer Study, specifically designed to evaluate phytoestrogens and ovarian cancer risk in New Jersey, a population characterized by large ethnic diversity." . _:41c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "New Jersey Ovarian Cancer Study NJOCS NJO USA" . _:41c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:41c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21943063"; "Phytoestrogen consumption from foods and supplements and epithelial ovarian cancer risk: a population-based case control study."; "PMID:21943063", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3196697/fullTextXML"; rdfs:comment "We conducted a population-based case-control study, the NJ Ovarian Cancer Study, specifically designed to evaluate phytoestrogens and ovarian cancer risk in New Jersey, a population characterized by large ethnic diversity." . _:41c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer in New Jersey, United States, run by the Cancer Institute of New Jersey, whose cases were women with newly diagnosed invasive epithelial ovarian cancer living in six New Jersey counties, identified from January 2004 to May 2008 through the New Jersey State Cancer Registry, and whose controls were those of the EDGE (Estrogen, Diet, Genetics, and Endometrial Cancer) Study. It was designed to study phytoestrogens and ovarian cancer risk and is one of the studies of the Ovarian Cancer Association Consortium (study code NJO)."; "PMID:21943063", "PMID:36688720", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 233; "NJO cases completing interviews and controls completing the study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3196697/fullTextXML"; rdfs:comment "Of the 493 remaining cases, 252 consented to participate (51%) and 233 completed the interview (47%)." . _:41cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 467; "NJO cases completing interviews and controls completing the study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3196697/fullTextXML"; rdfs:comment "Overall, a total of 467 (approximately 40%) controls from the three sources completed the study." . _:41cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJO"; . _:41cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJOCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. NJRCACH is not a cohort: its name joins two of the five participating sites of the NIH Consortium of Food Allergy Research (CoFAR) EoE Cohort, 'University of Colorado Health Center/National Jewish Research Center' and 'Arkansas Children’s Hospital' (PMID:29904099). That cohort is already in COHO as the CoFAR Eosinophilic Esophagitis Registry (COHO:0001429, which carries the PGS id USNIHFAREE's name 'US NIH CoFAR EoE cohort'). No PGS Catalog score uses NJRCACH, so it is at most the Catalog's label for those two sites' share of the CoFAR EoE participants, with no study name of its own. The two institution names should not be added to COHO:0001429 as synonyms. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University of Colorado Health Center/National Jewish Research Center and Arkansas Childrens Hospital"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18667; , , ; "PGS002252", "PMID:27145994"; "A case-control sample of Han Chinese adults assembled by Nanjing Medical University in Nanjing, China, for genome-wide association studies of colorectal cancer, whose cases are patients with colorectal cancer recruited at the Cancer Center of Nanjing Medical University from September 2010 and whose cancer-free controls come from the same districts of Nanjing."; 1316; 2207; "NJ Study", "NJ_Study", "Nanjing CRC GWAS", "Nanjing GWAS", "Nanjing Study", "Nanjing-1"; ; rdfs:label "Nanjing colorectal cancer GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18667 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18667; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4858728/fullTextXML"; rdfs:comment "In the first GWAS stage, 1,049 colorectal cancer cases were enrolled from the Cancer Center of Nanjing Medical University and 1,315 controls were from the same districts of Nanjing beginning in September 2010 (Nanjing-1)." . _:41cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13123215/fullTextXML"; rdfs:comment "The Chinese datasets included the Nanjing GWAS (1,316 CRC cases and 2,207 controls) and the Wuhan GWAS (3,000 CRC cases and 3,000 controls), which have been described previously [12, 13]." . _:41d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002252"; "Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study."; "PMID:35026030" . _:41d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27145994"; "Common genetic variation in ETV6 is associated with colorectal cancer susceptibility."; "PMID:27145994", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4858728/fullTextXML"; rdfs:comment "In the first GWAS stage, 1,049 colorectal cancer cases were enrolled from the Cancer Center of Nanjing Medical University and 1,315 controls were from the same districts of Nanjing beginning in September 2010 (Nanjing-1)." . _:41d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of Han Chinese adults assembled by Nanjing Medical University in Nanjing, China, for genome-wide association studies of colorectal cancer, whose cases are patients with colorectal cancer recruited at the Cancer Center of Nanjing Medical University from September 2010 and whose cancer-free controls come from the same districts of Nanjing."; "PMID:27145994", "PMID:41851747"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1316; "Nanjing GWAS cases and controls in the 2026 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13123215/fullTextXML"; rdfs:comment "The Chinese datasets included the Nanjing GWAS (1,316 CRC cases and 2,207 controls) and the Wuhan GWAS (3,000 CRC cases and 3,000 controls), which have been described previously [12, 13]." . _:41d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2207; "Nanjing GWAS cases and controls in the 2026 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13123215/fullTextXML"; rdfs:comment "The Chinese datasets included the Nanjing GWAS (1,316 CRC cases and 2,207 controls) and the Wuhan GWAS (3,000 CRC cases and 3,000 controls), which have been described previously [12, 13]." . _:41d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJ Study"; . _:41d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NJ_Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18677; , ; ; "PGS000778", "PMID:33495596"; "A case-control cohort from the population-based registry of amyotrophic lateral sclerosis (ALS) in the Netherlands, one of the cohorts of the international ALS genome-wide association study linked to Project MinE, whose cases have probable or definite ALS diagnosed by neurologists at the tertiary referral centres University Medical Center Utrecht, Academic Medical Centre Amsterdam and Radboud University Medical Center Nijmegen, and whose controls, free of neuromuscular disease and matched for age, sex and ethnicity, were ascertained through a population-based study of ALS in the Netherlands. Its genotyped controls have been reused as a Dutch control group in other genetic association studies."; 1226; 2262; "Project Mine (Netherlands NL4 controls)", "cohort NL4"; ; rdfs:label "NL4"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18677 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18677; "amyotrophic lateral sclerosis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3622/MediaObjects/41588_2016_BFng3622_MOESM43_ESM.pdf"; rdfs:comment "Cases were diagnosed with probable or definite ALS according to the revised El-Escorial Criteria by neurologists specialized in motor neuron diseases11 . Both cases with and without a family history for ALS were included. Tertiary referral centers for ALS were University Medical Center Utrecht, Academic Medical Centre Amsterdam and Radboud University Medical Center Nijmegen." . _:41d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3622/MediaObjects/41588_2016_BFng3622_MOESM43_ESM.pdf"; rdfs:comment "26. NL4, Population based ALS registry, The Netherlands." . _:41d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000778"; "Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect."; "PMID:33495596" . _:41da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33495596"; "Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect."; "PMID:33495596", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-00762-2/MediaObjects/41588_2020_762_MOESM1_ESM.pdf"; rdfs:comment "The control group consisted of a previously genotyped Dutch control population from project Mine (cohort NL4, as described in van Rheenen et al.5 )." . _:41db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control cohort from the population-based registry of amyotrophic lateral sclerosis (ALS) in the Netherlands, one of the cohorts of the international ALS genome-wide association study linked to Project MinE, whose cases have probable or definite ALS diagnosed by neurologists at the tertiary referral centres University Medical Center Utrecht, Academic Medical Centre Amsterdam and Radboud University Medical Center Nijmegen, and whose controls, free of neuromuscular disease and matched for age, sex and ethnicity, were ascertained through a population-based study of ALS in the Netherlands. Its genotyped controls have been reused as a Dutch control group in other genetic association studies."; "PMID:27455348", "PMID:33495596", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3622/MediaObjects/41588_2016_BFng3622_MOESM43_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1226; "ALS cases and controls of cohort NL4 in the 2016 ALS GWAS (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3622/MediaObjects/41588_2016_BFng3622_MOESM43_ESM.pdf"; rdfs:comment "26 NL4 The Netherlands 1,226 2,262 IlluminaOmniExpress" . _:41dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2262; "ALS cases and controls of cohort NL4 in the 2016 ALS GWAS (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3622/MediaObjects/41588_2016_BFng3622_MOESM43_ESM.pdf"; rdfs:comment "26 NL4 The Netherlands 1,226 2,262 IlluminaOmniExpress" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18685, _:genid-371333f489424440b12a13b9d98ced822608-genid18687, _:genid-371333f489424440b12a13b9d98ced822608-genid18689; , , ; , ; ; "PMID:20418888"; "A Dutch sample of three groups from Nijmegen, the Netherlands: population controls from the Nijmegen Biomedical Study, patients with urinary bladder cancer recruited for the Nijmegen Bladder Cancer Study, and patients with lung cancer identified through the population-based cancer registry of the Comprehensive Cancer Center IKO and recruited for a study of gene–environment interactions in lung cancer; it was one of the samples of the ENGAGE consortium's genome-wide association analysis of the number of cigarettes smoked per day."; 2971; "NLBLC", "Nijmegen Lung and Bladder Cancer"; rdfs:label "Nijmegen Lung and Bladder Cancer sample"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18685 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18687 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18689 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18685; "urinary bladder cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "The Dutch series consists of 3 groups: population controls, patients with urinary bladder cancer, and patients with lung cancer." . _:41df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18687; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "The Dutch series consists of 3 groups: population controls, patients with urinary bladder cancer, and patients with lung cancer." . _:41e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18689; "cigarettes smoked per day"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "The NLBLC sample that participated in the CPD meta analysis is described with the lung cancer and peripheral arterial disease samples." . _:41e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "the 1,832 population controls (46% males) were recruited within a project entitled “Nijmegen Biomedical Study” (NBS)." . _:41e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "Briefly, patients were recruited for the Nijmegen Bladder Cancer Study (NBCS) (see http://dceg.cancer.gov/icbc/membership.html)." . _:41e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "Patients who were diagnosed in one of three hospitals (Radboud University Nijmegen Medical Center and Canisius Wilhelmina Hospital in Nijmegen and Rijnstate Hospital in Arnhem) and who were alive at April 15th, 2008 were recruited for a study on gene-environment interactions in lung cancer." . _:41e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "The series of patients with lung cancer has been described before12 , Briefly, Patients with lung cancer were identified through the population-based cancer registry of the Comprehensive Cancer Center IKO, Nijmegen, the Netherlands." . _:41e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20418888"; "Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior."; "PMID:20418888", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "NLBLC (Nijmegen Lung and Bladder Cancer sample): The Dutch series consists of 3 groups: population controls, patients with urinary bladder cancer, and patients with lung cancer." . _:41e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Dutch sample of three groups from Nijmegen, the Netherlands: population controls from the Nijmegen Biomedical Study, patients with urinary bladder cancer recruited for the Nijmegen Bladder Cancer Study, and patients with lung cancer identified through the population-based cancer registry of the Comprehensive Cancer Center IKO and recruited for a study of gene–environment interactions in lung cancer; it was one of the samples of the ENGAGE consortium's genome-wide association analysis of the number of cigarettes smoked per day."; "PMID:20418888"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2971; "NLBLC smokers in the rs215605 cigarettes-per-day analysis reported in 2010"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE NL-BLC 2,971 0.376 0.90±0.25 0.00041 1" . _:41e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NLBLC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18699, _:genid-371333f489424440b12a13b9d98ced822608-genid18701; , ; , ; "PGS000740", "PMID:28604730"; "A population-based case-control study of lung cancer run by Radboud University Medical Centre in Nijmegen, the Netherlands, to study gene-environment interactions. Its cases are patients diagnosed with lung cancer since 1989 at Radboud university medical center, Canisius Wilhelmina Hospital in Nijmegen or Rijnstate Hospital in Arnhem, identified through the cancer registry of the Netherlands Comprehensive Cancer Organisation, together with lung cancer cases found among participants of POLYGENE, the Nijmegen Biomedical Study and a Radboudumc urology outpatient study; its cancer-free controls are drawn from the Nijmegen Biomedical Study, a random sample of the general population of Nijmegen."; 552; "NLC", "The Nijmegen Lung Cancer Study"; ; rdfs:label "Nijmegen Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18699 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18701 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18699; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Netherlands patients with lung cancer were identified through the population-based cancer registry of the Netherlands Comprehensive Cancer Organisation in Nijmegen, the Netherlands." . _:41ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18701; "environment"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Patients who were diagnosed in one of three hospitals (Radboud university medical center and Canisius Wilhelmina Hospital in Nijmegen and Rijnstate Hospital in Arnhem) since 1989 and who were still alive at April 15th, 2008 were recruited for a study on gene-environment interactions in lung cancer." . _:41eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Netherlands patients with lung cancer were identified through the population-based cancer registry of the Netherlands Comprehensive Cancer Organisation in Nijmegen, the Netherlands." . _:41ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:41ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Nijmegen The Nijmegen Lung Cancer Study Radboud University Medical Centre L. A. Kiemeney The Netherlands Pop. CC 2002-2008" . _:41ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of lung cancer run by Radboud University Medical Centre in Nijmegen, the Netherlands, to study gene-environment interactions. Its cases are patients diagnosed with lung cancer since 1989 at Radboud university medical center, Canisius Wilhelmina Hospital in Nijmegen or Rijnstate Hospital in Arnhem, identified through the cancer registry of the Netherlands Comprehensive Cancer Organisation, together with lung cancer cases found among participants of POLYGENE, the Nijmegen Biomedical Study and a Radboudumc urology outpatient study; its cancer-free controls are drawn from the Nijmegen Biomedical Study, a random sample of the general population of Nijmegen."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 552; "expanded Nijmegen lung cancer case series, before selecting the OncoArray subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "This case series was expanded with 94 patients to a total of 552 by linking three other studies to the population-based cancer registry in order to identify new occurrences of lung cancer among the participants of these other studies." . _:41f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NLC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Norwegian Mother, Father and Child Cohort Study is the current full name of MoBa (PMID:31577359). Replaced by COHO:0000131 (Norwegian Mother and Child Cohort study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Norwegian Mother, Father and Child Cohort Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18709, _:genid-371333f489424440b12a13b9d98ced822608-genid18711; , ; ; "PGS000733", "PMID:33623038"; "A clinic-based study of men aged 40 or older with no previous prostate cancer diagnosis who were scheduled for a diagnostic prostate biopsy at Vanderbilt University Medical Center, the Tennessee Valley Veterans Administration hospital or a large private urology practice in Nashville, Tennessee, United States, recruited from 2002 under a multicentre rapid-recruitment protocol that collects clinical, biological, behavioural and body-measurement data and blood and urine, to study risk factors for prostate cancer, prostatic intraepithelial neoplasia and benign prostatic enlargement."; 2100; "NMHS"; ; rdfs:label "Nashville Men's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18709 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18711 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18709; "prostate intraepithelial neoplasia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3081812/fullTextXML"; rdfs:comment "In this biomarker sub-study of the Nashville Men's Health Study (NMHS), we included 494 NMHS participants, consisting of 98 high-grade (Gleason≥7) and 100 low-grade cancer cases, 133 prostate intraepithelial neoplasia (PIN) cases, and 163 controls without cancer or PIN at biopsy." . _:41f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18711; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3081812/fullTextXML"; rdfs:comment "In this biomarker sub-study of the Nashville Men's Health Study (NMHS), we included 494 NMHS participants, consisting of 98 high-grade (Gleason≥7) and 100 low-grade cancer cases, 133 prostate intraepithelial neoplasia (PIN) cases, and 163 controls without cancer or PIN at biopsy." . _:41f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "NMHS (n=364) Nashville Men's Health Study Nashville, USA Clinic-based, case-control" . _:41f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:41f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "NMHS (n=364) Nashville Men's Health Study Nashville, USA Clinic-based, case-control" . _:41f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based study of men aged 40 or older with no previous prostate cancer diagnosis who were scheduled for a diagnostic prostate biopsy at Vanderbilt University Medical Center, the Tennessee Valley Veterans Administration hospital or a large private urology practice in Nashville, Tennessee, United States, recruited from 2002 under a multicentre rapid-recruitment protocol that collects clinical, biological, behavioural and body-measurement data and blood and urine, to study risk factors for prostate cancer, prostatic intraepithelial neoplasia and benign prostatic enlargement."; "PMID:19286210", "PMID:21541018", "PMID:26158673"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2100; "eligible consenting NMHS participants in the 2002–2008 recruitment series"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3081812/fullTextXML"; rdfs:comment "Approximately 95% of eligible men approached for recruitment agree to participate, and the study population included 2,100 eligible consenting subjects." . _:41f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NMHS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The catalog name 'Navrongo Memorial Institute' is not the name of any institution or study found anywhere: Europe PMC has no article containing the phrase. Ghana has a Navrongo Health Research Centre (Navrongo) and a Noguchi Memorial Institute for Medical Research (Accra), which are listed next to each other in MalariaGEN author lists (PMC6914791, PMC4629224), so the name looks like a conflation of the two; this is a guess and cannot be confirmed without the paper the Catalog took it from. NMI is the PGS Catalog's id for 'Navrongo Memorial Institute', an institution name (apparently a garbled one: Ghana's Navrongo Health Research Centre and Noguchi Memorial Institute for Medical Research are real, a 'Navrongo Memorial Institute' is not). The Catalog lists the id in its cohort table but attaches it to no score or sample set, so there is no sample for it to denote, and no paper found by name uses a study sample called NMI. It is an institution name, not a cohort. Named Ghanaian samples COHO already has (AWI-Gen COHO:0000006, whose Ghanaian site is Navrongo; Ghana Prostate Study COHO:0000086; Ghana Breast Health Study COHO:0001333; MalariaGEN COHO:0000294) cannot be tied to the id, so it should not become a synonym of any of them. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Navrongo Memorial Institute"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. NNPIO is the PGS Catalog's id for the N.N. Petrov Institute of Oncology, St Petersburg, Russia, as a contributing centre of CIMBA: the BRCA1/BRCA2 pathogenic-variant carriers it ascertained and sent to the consortium (PMID:32665703, 28346442). CIMBA's own lists call the contribution only by the institute's name, and no paper gives it a study name or a recruitment of its own beyond the institute, so it is a site, not a named cohort (the same judgement as LUHR, E651). Its data are covered by CIMBA (COHO:0000901). It is not the Polish Breast Cancer Study or any other COHO term the triage matched. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete N.N. Petrov Institute of Oncology"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18719; , ; ; "PGS000082", "PMID:36688720"; "A case-control study of epithelial ovarian cancer in the eastern part of the Netherlands, run by Radboud University Medical Centre in Nijmegen, which draws on the Nijmegen Biomedical Study and the Nijmegen Polygene Study and collects its data by self-completed questionnaire. It is one of the studies of the Ovarian Cancer Association Consortium (study code NTH) and contributes to its pooled epidemiological analyses and genome-wide association studies of ovarian cancer."; 265; 600; "NOCS", "NTH", "Nijmegen Polygene Study & Nijmegen Biomedical Study", "Nijmegen Polygene Study and Nijmegen Biomedical Study", "POLYGENE"; ; rdfs:label "Nijmegen Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18719 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:41f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18719; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "Women diagnosed with ovarian cancer between 1989 and 2006 and still alive in 2008, identified from the population- based cancer registry of the Comprehensive Cancer Center East in the Mid-Eastern part of the Netherlands." . _:41fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Nijmegen Ovarian Cancer Study NTH Eastern part of the Netherlands" . _:41fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:41fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36688720"; "Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis."; "PMID:36688720", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "NTH (29,30) Netherlands Nijmegen Ovarian Cancer Study 1997-2008 Population-based Self-completed questionnaire" . _:41fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of epithelial ovarian cancer in the eastern part of the Netherlands, run by Radboud University Medical Centre in Nijmegen, which draws on the Nijmegen Biomedical Study and the Nijmegen Polygene Study and collects its data by self-completed questionnaire. It is one of the studies of the Ovarian Cancer Association Consortium (study code NTH) and contributes to its pooled epidemiological analyses and genome-wide association studies of ovarian cancer."; "PMID:28346442", "PMID:36688720", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:41fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 265; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "NTH (29,30) Netherlands Nijmegen Ovarian Cancer Study 1997-2008 Population-based Self-completed questionnaire 55.90 (10.79) 600 (69.4) 265 (30.6)" . _:41ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "NTH (29,30) Netherlands Nijmegen Ovarian Cancer Study 1997-2008 Population-based Self-completed questionnaire 55.90 (10.79) 600 (69.4) 265 (30.6)" . _:42002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NOCS"; . _:42012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NTH"; . _:42022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POLYGENE"; . a owl:NamedIndividual, ; , , ; ; "PMID:41393571"; "A community-based cohort of middle-aged and elderly residents of Nomura town, a largely rural community in Ehime Prefecture, western Japan, recruited through the annual community health check-ups at the Nomura Health and Welfare Center, with a first cohort enrolled in 2002 and a second in 2014 and followed up for mortality; run from Ehime University, it is one of the general-population cohorts of the Japanese Millennium Genome Project."; 3517; "Ehime University site", "JMGP-Nomura", "Nomura", "Nomura Cohort Study", "Nomura cohort", "Nomura cohort study"; rdfs:label "Nomura Study"@en . _:42032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12701544/fullTextXML"; rdfs:comment "Participants were recruited from rural communities in Ehime Prefecture, Japan, specifically individuals who routinely participated in annual community-based health checkups conducted at the Nomura Health and Welfare Center." . _:42042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41393571"; "Association Between the Creatinine-to-Body Weight Ratio and All-Cause Mortality in a Rural Japanese Community."; "PMID:41393571", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41393571+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants included 1553 men (aged 63 ± 14 years) and 1964 women (aged 65 ± 16 years) who participated in the Nomura cohort study conducted in 2002 (first cohort) and 2014 (second cohort) and who continued throughout the follow-up periods (median, 6316 days; interquartile ranges, 3828-8121 days)." . _:42052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of middle-aged and elderly residents of Nomura town, a largely rural community in Ehime Prefecture, western Japan, recruited through the annual community health check-ups at the Nomura Health and Welfare Center, with a first cohort enrolled in 2002 and a second in 2014 and followed up for mortality; run from Ehime University, it is one of the general-population cohorts of the Japanese Millennium Genome Project."; "PMID:24009259", "PMID:26390057", "PMID:41393571"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3517; "analysed subset: participants of the 2002 and 2014 cohorts who continued through follow-up"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12701544/fullTextXML"; rdfs:comment "Data from both cohorts were combined for analysis, resulting in a total sample size of 3517 participants (Appendix B)." . _:42072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nomura"; . a owl:NamedIndividual, ; , , , ; , , , ; "PGS000351", "PMID:28139761"; "A database and web portal set up in the Nordic countries that pools genome-wide SNP genotypes of control individuals from Finnish, Swedish and Danish studies, with country-specific allele frequencies, so that genetic association studies in the Nordic countries can use them as shared controls."; 5000; "Nordic Control database", "Nordic GWAS control database"; ; rdfs:label "NordicDB"@en . _:42082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3002853/"; rdfs:comment "Cancer Prostate in Sweden (CAPS) 13 502 492 555 Affymetrix 550K Central and Northern Sweden Males; mean age: 66.4±7.1 years" . _:42092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3002853/"; rdfs:comment "Cancer And Hormonal Replacement in Sweden (CAHRES)4 764 561 274 Illumina HumanHap-550-v3 Sweden Females; mean age: 63±6.5 years" . _:420a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3002853/"; rdfs:comment "Diabetes Genetics Initiative (DGI)5 1467 496 963 Affymetrix 550K Southern Sweden and Western Finland (Botnia) 654 males/701 females; mean age: 58.3±6.5 years (SWE); 59±10 years (FIN)" . _:420b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3002853/"; rdfs:comment "GenomEUtwin-DK8, 9 173 318 212 Illumina HumanHap-300-v2.0 Denmark Females; age range 20–80 years" . _:420c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3002853/"; rdfs:comment "At present, NordicDB contains randomly ascertained samples from Finland, Sweden and Denmark." . _:420d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000351"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:420e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28139761"; "Genome-Wide Association Study of Polymorphisms Predisposing to Bronchiolitis."; "PMID:28139761", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5282585/fullTextXML"; rdfs:comment "The replication case set of Turku was studied against the NordicDB population controls" . _:420f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A database and web portal set up in the Nordic countries that pools genome-wide SNP genotypes of control individuals from Finnish, Swedish and Danish studies, with country-specific allele frequencies, so that genetic association studies in the Nordic countries can use them as shared controls."; "PMID:20664631"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5000; "controls pooled in the first release (approximate), 2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20664631+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The current version of NordicDB pools together high-density genome-wide SNP information from ∼5000 controls originating from Finnish, Swedish and Danish studies and shows country-specific allele frequencies for SNP markers." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18744; , , ; "PMID:23690342"; "A prospective, randomised, open, blinded-endpoint multicentre trial started in 1992 that enrolled patients aged 50-74 with primary hypertension and a diastolic blood pressure of 100 mm Hg or more at primary health care centres and hospital hypertension units in Norway and Sweden, and randomly assigned them to diltiazem or to conventional treatment with diuretics, beta-blockers or both, to compare their effects on cardiovascular morbidity and mortality."; 10881; "NORDIL", "Nordic Diltiazem study", "Nordic diltiazem intervention study"; rdfs:label "Nordic Diltiazem Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18744 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18744; "primary hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8173702+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Male and female patients, aged 50-69, with primary hypertension are randomly allocated to therapy starting with either diltiazem (180-360 mg daily) or conventional treatment (diuretics or beta-adrenergic blockers)." . _:42122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8173702+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This trial is a prospective randomized open blinded-endpoint (PROBE) multicenter, parallel-group study conducted in Norway and Sweden." . _:42132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23690342"; "Pharmacogenomic association of nonsynonymous SNPs in SIGLEC12, A1BG, and the selectin region and cardiovascular outcomes."; "PMID:23690342", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23690342+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A genetic risk score was constructed from the top 3 signals and tested in the Nordic Diltiazem study." . _:42142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, randomised, open, blinded-endpoint multicentre trial started in 1992 that enrolled patients aged 50-74 with primary hypertension and a diastolic blood pressure of 100 mm Hg or more at primary health care centres and hospital hypertension units in Norway and Sweden, and randomly assigned them to diltiazem or to conventional treatment with diuretics, beta-blockers or both, to compare their effects on cardiovascular morbidity and mortality."; "PMID:10972367", "PMID:8173702"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10881; "NORDIL randomized hypertensive patients"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10972367+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a prospective, randomised, open, blinded endpoint study, we enrolled 10,881 patients, aged 50-74 years, at health centres in Norway and Sweden, who had diastolic blood pressure of 100 mm Hg or more." . _:42162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NORDIL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18751; , ; ; "PGS000740", "PMID:28604730"; "A population-based case-control study of non-small cell lung cancer in Western Norway, run by the National Institute of Occupational Health (NIOH) in Oslo within its lung cancer genetics project, whose cases are patients of Norwegian origin with histologically confirmed early-stage non-small cell lung cancer admitted to Haukeland University Hospital in Bergen, and whose healthy controls come from the same region and are frequency-matched to the cases on cumulative smoking; recruitment ran from 1986 to 2005."; 335; 422; 757; "NorwayLCS"; ; rdfs:label "Norway Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18751 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18751; "non-small cell lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Only patients with histologically confirmed early-stage NSCLC were included in our study." . _:42182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The patients were enrolled in the study, whenever practically feasible among patients admitted for lung cancer at the Haukeland University Hospital in Bergen, Norway." . _:42192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:421a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Norway Norway Lung Cancer Study NIOH A. Haugen Norway Pop. CC 1986-2005" . _:421b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of non-small cell lung cancer in Western Norway, run by the National Institute of Occupational Health (NIOH) in Oslo within its lung cancer genetics project, whose cases are patients of Norwegian origin with histologically confirmed early-stage non-small cell lung cancer admitted to Haukeland University Hospital in Bergen, and whose healthy controls come from the same region and are frequency-matched to the cases on cumulative smoking; recruitment ran from 1986 to 2005."; "PMID:18258609", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:421c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 335; "unique Norway study subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Norway Norway Lung Cancer Study NIOH A. Haugen Norway Pop. CC 1986-2005 335 422 757 18258609" . _:421d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 422; "unique Norway study subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Norway Norway Lung Cancer Study NIOH A. Haugen Norway Pop. CC 1986-2005 335 422 757 18258609" . _:421e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 757; "unique Norway study subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Norway Norway Lung Cancer Study NIOH A. Haugen Norway Pop. CC 1986-2005 335 422 757 18258609" . _:421f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NorwayLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18761; , ; "PMID:20966103"; "A population-based osteoporosis screening programme of postmenopausal women aged 60-82 at baseline, recruited at centres in Aberdeen and Dingwall in the north of Scotland, who underwent bone mineral density measurement in 2001-2003 and gave questionnaire data and DNA samples."; 1847; "NOSOS"; rdfs:label "North of Scotland Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18761 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18761; "osteoporosis"; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "NOSOS is a population‐based osteoporosis screening programme of postmenopausal females aged 60‐82 years of age at baseline." . _:42212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "NOSOS North of Scotland Osteoporosis Study Cohort Population‐based UK Aberdeen, Dingwall North‐western European 1,293 NOSOS is a population‐based osteoporosis screening programme of postmenopausal females aged 60‐82 years of age at baseline." . _:42222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20966103"; "The functional ACTN3 577X variant increases the risk of falling in older females: results from two large independent cohort studies."; "PMID:20966103", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20966103+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Case-control analysis was conducted using two large cohorts of Caucasian postmenopausal women--the North of Scotland Osteoporosis Study (n = 1,245) and the Aberdeen Prospective Osteoporosis Screening Study (n = 2,918)--for whom self-reported falls status and DNA samples were available." . _:42232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based osteoporosis screening programme of postmenopausal women aged 60-82 at baseline, recruited at centres in Aberdeen and Dingwall in the north of Scotland, who underwent bone mineral density measurement in 2001-2003 and gave questionnaire data and DNA samples."; "PMID:18633668", "PMID:20966103", "https://static-content.springer.com/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1847; "women aged 60-82 screened at baseline, 2001-2003"; "https://doi.org/10.1007/s00198-008-0681-4"; rdfs:comment "The current participants were subjects from the North of Scotland Osteoporosis Study (NOSOS), which is a population-based screening programme for osteoporotic fracture that involved 1,847 women aged 60–82 years at baseline (2001–2003)." . _:42252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NOSOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18768, _:genid-371333f489424440b12a13b9d98ced822608-genid18770; , ; "PMID:20010834"; "An ongoing collection, in Nottingham and funded by the University of Nottingham, of smokers of European ancestry over 40 years of age with a smoking history of more than 10 pack-years, whose lung function (FEV1 and FVC) was measured by spirometry at enrolment, before and after bronchodilation, and from which people with asthma were excluded; divided by spirometry into COPD cases and smoking controls, it has served as a follow-up sample in genetic association studies of lung function and COPD."; 538; "Nottingham Smokers Study", "Nottingham Smokers cohort", "Nottingham Smokers study", "Nottingham_Smokers"; rdfs:label "Nottingham Smokers"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18768 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18770 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18768; "COPD"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5414061/fullTextXML"; rdfs:comment "A total of 206 subjects with COPD defined by spirometry (forced expiratory volume (FEV)/forced vital capacity (FVC) <0.7, FEV1% <80%), over 40 years of age, and 338 controls, as part of the Nottingham Smokers Study." . _:42272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18770; "smoking history of > 10 pack years"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4006731/fullTextXML"; rdfs:comment "The Nottingham Smokers cohort is an ongoing collection in Nottingham using the following criteria; European ancestry, >40 years of age and smoking history of >10 pack years (currently n = 538)." . _:42282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf"; rdfs:comment "The Nottingham Smokers cohort is an ongoing collection in Nottingham using the following criteria; Caucasian, > 40 years of age and smoking history of > 10 pack years (currently n=538)." . _:42292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20010834"; "Genome-wide association study identifies five loci associated with lung function."; "PMID:20010834", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2862965/"; rdfs:comment "We genotyped 10 SNPs in up to 32,184 individuals from the ADONIX, BHS, BRHS, BWHHS, Gedling, GS:SFHS, HCS, KORA F4, NFBC1986, Nottingham Smokers and NSHD studies." . _:422a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing collection, in Nottingham and funded by the University of Nottingham, of smokers of European ancestry over 40 years of age with a smoking history of more than 10 pack-years, whose lung function (FEV1 and FVC) was measured by spirometry at enrolment, before and after bronchodilation, and from which people with asthma were excluded; divided by spirometry into COPD cases and smoking controls, it has served as a follow-up sample in genetic association studies of lung function and COPD."; "PMID:21965014", "PMID:24786987", "PMID:26952864", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.501/MediaObjects/41588_2010_BFng501_MOESM25_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:422b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 538; "smokers enrolled in the ongoing collection (as reported in 2010 and 2014)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4006731/fullTextXML"; rdfs:comment "The Nottingham Smokers cohort is an ongoing collection in Nottingham using the following criteria; European ancestry, >40 years of age and smoking history of >10 pack years (currently n = 538)." . _:422c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Nottingham_Smokers"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18777; "PGS005311", "PMID:41408349"; "A pooled set of participants with psoriasis from five Novartis clinical trials of secukinumab (CAIN457A2302, CAIN457A2303, CAIN457A2304, CAIN457A2223 and CAIN457A2403), whose anonymized trial data and genotypes, collected by Novartis Pharmaceuticals, are analysed post hoc as a psoriasis-only cohort in genetic studies of psoriasis."; 1461; "Novartis", "Novartis clinical trials of secukinumab for psoriasis", "Novartis secukinumab psoriasis trials", "Novartis secukinumab trials cohort"; ; rdfs:label "Novartis secukinumab clinical trials"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18777 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:422d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18777; "psoriasis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12857016/fullTextXML"; rdfs:comment "Novartis data was collected from five clinical trials of secukinumab in psoriasis (details available on https://clinicaltrials.gov/): CAIN457A2302 (NCT01365455), CAIN457A2303 (NCT01358578), CAIN457A2304 (NCT01406938), CAIN457A2223 (NCT01537432), CAIN457A2403 (NCT03553823)." . _:422e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005311"; "Genetic liability to psoriasis predicts severe disease outcomes."; "PMID:41408349" . _:422f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41408349"; "Genetic liability to psoriasis predicts severe disease outcomes."; "PMID:41408349", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41408349+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The distribution of psoriasis polygenic risk was also evaluated in a cohort of 4151 participants in the UK-based severe psoriasis registry, BSTOP, and a cohort of 1461 participants from Novartis clinical trials of secukinumab for psoriasis." . _:42302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pooled set of participants with psoriasis from five Novartis clinical trials of secukinumab (CAIN457A2302, CAIN457A2303, CAIN457A2304, CAIN457A2223 and CAIN457A2403), whose anonymized trial data and genotypes, collected by Novartis Pharmaceuticals, are analysed post hoc as a psoriasis-only cohort in genetic studies of psoriasis."; "PMID:41408349"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1461; "genotyped trial participants with psoriasis analysed in PMID:41408349"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12857016/fullTextXML"; rdfs:comment "The distribution of psoriasis polygenic risk was also evaluated in a cohort of 4151 participants in the UK-based severe psoriasis registry, BSTOP, and a cohort of 1461 participants from Novartis clinical trials of secukinumab for psoriasis." . _:42322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Novartis"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18784, _:genid-371333f489424440b12a13b9d98ced822608-genid18786, _:genid-371333f489424440b12a13b9d98ced822608-genid18788; , , ; "PGS002291", "PMID:35414057"; "A population-based case-control study of nasopharyngeal carcinoma in southern China, in which incident cases aged 20–74 years were recruited from March 2010 to December 2013, and randomly selected population controls from November 2010 to November 2014, among residents of 13 cities and counties of Guangdong Province and Guangxi Autonomous Region, with questionnaires and biospecimens collected to study the independent and interactive roles of genes, environmental exposures and Epstein–Barr virus infection in the disease; it was conducted by Sun Yat-sen University Cancer Center, Karolinska Institutet, Guangxi Medical University and collaborating institutions."; 2554; 2648; "NPC Genes, Environment, and EBV cohort", "NPC genes, environment, and EBV", "NPCGEE", "Nasopharyngeal carcinoma Genes, Environment, and EBV study"; ; rdfs:label "NPC Genes, Environment, and EBV study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18784 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18786 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18788 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18784; "nasopharyngeal carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5675616/fullTextXML"; rdfs:comment "We conducted a population-based case-control study of nasopharyngeal carcinoma in Guangdong Province and Guangxi Autonomous Region." . _:42342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18786; "infection with the Epstein-Barr virus (EBV)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5675616/fullTextXML"; rdfs:comment "Therefore, we undertook a large, population-based case-control study of NPC in southern China (the NPC Genes, Environment, and EBV (NPCGEE) study) with the specific aims of understanding the independent and interactive roles of genes, environmental exposures, and infection with the Epstein-Barr virus (EBV) in disease etiology." . _:42352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18788; "environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5675616/fullTextXML"; rdfs:comment "Therefore, we undertook a large, population-based case-control study of NPC in southern China (the NPC Genes, Environment, and EBV (NPCGEE) study) with the specific aims of understanding the independent and interactive roles of genes, environmental exposures, and infection with the Epstein-Barr virus (EBV) in disease etiology." . _:42362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5675616/fullTextXML"; rdfs:comment "Therefore, we undertook a large, population-based case-control study of NPC in southern China (the NPC Genes, Environment, and EBV (NPCGEE) study) with the specific aims of understanding the independent and interactive roles of genes, environmental exposures, and infection with the Epstein-Barr virus (EBV) in disease etiology." . _:42372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002291"; "The interaction and mediation effects between the host genetic factors and Epstein-Barr virus VCA-IgA in the risk of nasopharyngeal carcinoma."; "PMID:37970759" . _:42382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35414057"; "A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening."; "PMID:35414057", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005522/fullTextXML"; rdfs:comment "A total of 12 independent variants were included in the PRS calculation based on the GWAS results (EPIC-NPC-2005, NPCGEE, SYSUNPC, and Hong Kong samples)." . _:42392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of nasopharyngeal carcinoma in southern China, in which incident cases aged 20–74 years were recruited from March 2010 to December 2013, and randomly selected population controls from November 2010 to November 2014, among residents of 13 cities and counties of Guangdong Province and Guangxi Autonomous Region, with questionnaires and biospecimens collected to study the independent and interactive roles of genes, environmental exposures and Epstein–Barr virus infection in the disease; it was conducted by Sun Yat-sen University Cancer Center, Karolinska Institutet, Guangxi Medical University and collaborating institutions."; "PMID:29152064"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:423a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2554; "incident nasopharyngeal carcinoma cases and population controls enrolled, 2010-2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5675616/fullTextXML"; rdfs:comment "By the end of the study recruitment phase, which ended in December 2014, we enrolled a total of 2554 NPC cases and 2648 population-based controls (Tables 1 and 2)." . _:423b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2648; "incident nasopharyngeal carcinoma cases and population controls enrolled, 2010-2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5675616/fullTextXML"; rdfs:comment "By the end of the study recruitment phase, which ended in December 2014, we enrolled a total of 2554 NPC cases and 2648 population-based controls (Tables 1 and 2)." . _:423c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPCGEE"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. NPHS, the National Physicians Health Study of PMID:26590902, is the Physicians' Health Study. Replaced by COHO:0000626 (Physicians' Health Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete NPHS"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. Novel Risk Factors and Potential Early Detection Markers for Ovarian Cancer is the name several Ovarian Cancer Association Consortium tables give its study HOP (PMID:23535730, PMID:27698005), which the consortium elsewhere names Hormones and Ovarian Cancer Prediction. Replaced by COHO:0001872 (Hormones and Ovarian Cancer Prediction Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Novel Risk Factors and Potential Early Detection Markers for Ovarian Cancer"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. NRG Oncology is a clinical trials group. In the CIMBA papers the PGS Catalog records the id in (PMID:29058716), it labels the group's contribution of BRCA1 and BRCA2 carriers, with no study name of its own; the carriers are covered by CIMBA (COHO:0000901). Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete NRG Oncology"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18797; , ; "PGS004592", "PMID:35505292"; "A prospective community-based cohort of adults aged 20–69 years randomly selected from the electoral roll of the township of Nambour in subtropical Queensland, Australia, begun in 1986 with a survey of skin cancer prevalence and dermatologists' skin examinations; from 1992 to 1996 most participants took part in a randomised trial of daily sunscreen use and beta-carotene supplementation for skin cancer prevention, and the cohort has since been followed for skin cancers, diet and mortality."; 2095; "NSCS", "Nambour Skin Cancer Prevention Study", "Nambour Study"; ; rdfs:label "Nambour Skin Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18797 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:423d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18797; "skin cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9063108/fullTextXML"; rdfs:comment "From 1992 to 1996, 1621 of the original 2095 participants took part in a randomized trial of daily sunscreen application and beta-carotene supplementation for skin cancer prevention [16, 18, 19]." . _:423e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9063108/fullTextXML"; rdfs:comment "The Nambour Skin Cancer Study was a prospective cohort study of 2095 randomly selected residents of the Nambour township in subtropical Australia." . _:423f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004592"; "Polygenic risk score as a determinant of risk of keratinocyte cancer in an Australian population-based cohort."; "PMID:35881107" . _:42402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35505292"; "Associations of keratinocyte cancers with snp variants in the sonic hedgehog pathway."; "PMID:35505292", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9063108/fullTextXML"; rdfs:comment "The Nambour Skin Cancer Study was a prospective cohort study of 2095 randomly selected residents of the Nambour township in subtropical Australia." . _:42412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective community-based cohort of adults aged 20–69 years randomly selected from the electoral roll of the township of Nambour in subtropical Queensland, Australia, begun in 1986 with a survey of skin cancer prevalence and dermatologists' skin examinations; from 1992 to 1996 most participants took part in a randomised trial of daily sunscreen use and beta-carotene supplementation for skin cancer prevention, and the cohort has since been followed for skin cancers, diet and mortality."; "PMID:35505292", "PMID:38680071"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2095; "Original Nambour community cohort"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9063108/fullTextXML"; rdfs:comment "The Nambour Skin Cancer Study was a prospective cohort study of 2095 randomly selected residents of the Nambour township in subtropical Australia." . _:42432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18805; , ; ; "PGS000786", "PMID:27008869"; "A UK study of women with histologically confirmed endometrial cancer, identified through collaborating clinicians throughout the United Kingdom, with the help of the National Cancer Research Network, from 2008 to 2013 (avoiding centres that recruited to the SEARCH study) and coordinated from the University of Oxford, to find inherited genetic variants that influence endometrial cancer risk; its cases have been compared with controls from other UK studies, such as the CORGI study and the 1958 Birth Cohort."; 925; "NSECG", "National Study of Endometrial Cancer", "National Study of the Genetics of Endometrial Cancer", "UK National Study of Endometrial Cancer Genetics"; ; rdfs:label "National Study of Endometrial Cancer Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18805 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18805; "endometrial cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM302_ESM.xlsx"; rdfs:comment "NSECG | UK National Study of Endometrial Cancer Genetics | UK; population based cases" . _:42452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "National Study of the Genetics of Endometrial Cancer (NSECG) cases were identified from collaborating clinicians throughout the UK from 2008 to 2013, taking care not to recruit from centres involved in SEARCH." . _:42462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000786"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:42472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27008869"; "GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer."; "PMID:27008869", "https://europepmc.org/api/getPdf?pmcid=PMC5868213"; rdfs:comment "Meta-analysis of GWAS results from the Australian National Endometrial Cancer Study (ANECS), the US Epidemiology of Endometrial Cancer Consortium (E2C2), the UK National Study of Endometrial Cancer Genetics (NSECG) and the UK Studies of Epidemiology and Risk factors in Cancer Heredity (SEARCH) in 4907 cases and 11 945 controls of European ancestry examined 9 486 271 SNPs for association with risk of EC." . _:42482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK study of women with histologically confirmed endometrial cancer, identified through collaborating clinicians throughout the United Kingdom, with the help of the National Cancer Research Network, from 2008 to 2013 (avoiding centres that recruited to the SEARCH study) and coordinated from the University of Oxford, to find inherited genetic variants that influence endometrial cancer risk; its cases have been compared with controls from other UK studies, such as the CORGI study and the 1958 Birth Cohort."; "PMID:27135401", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 925; "NSECG cases genotyped on Illumina 660W Quads for the GWAS scan"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "925 samples were genotyped using the Ilumina 660W Quads in the GWAS scan, 965 samples were genotyped in the phase 1 additional genotyping using iCOGS arrays, and a further 1195 were genotyped using KASPar and Fluidigm genotyping for the second phase." . _:424a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSECG"; . a owl:NamedIndividual, ; ; "NSOD"; ; rdfs:label "Network for the Study of Ovarian Dysfunction"@en . _:424b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSOD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18814; , ; "PMID:20372189"; "A family-based study of the genetics of asthma in Nottingham, United Kingdom, whose families were recruited on the basis of pairs of siblings affected by asthma and were used in association studies of candidate genes with atopy; its index cases, children with asthma of European ancestry, later served as childhood asthma cases in a genetic study of the 17q21 asthma locus."; "NSPA", "Nottingham sib pair asthma study"; rdfs:label "Nottingham Sib Pair Asthma study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18814 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:424c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18814; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12189166+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Association analysis in families recruited on the basis of affected sib pairs for asthma reveal significant association for both coding region polymorphisms with atopy." . _:424d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fejhg.2010.38/MediaObjects/41431_2010_BFejhg201038_MOESM31_ESM.pdf"; rdfs:comment "United Kingdom: Asthmatic subjects and controls were selected from the Nottingham area from 3 study cohorts recruited over the period 1995-2008." . _:424e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20372189"; "A sequence variant on 17q21 is associated with age at onset and severity of asthma."; "PMID:20372189", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fejhg.2010.38/MediaObjects/41431_2010_BFejhg201038_MOESM31_ESM.pdf"; rdfs:comment "Childhood asthma cases (n=57) were included by using index cases from the Nottingham sib pair asthma study12 and additional adult asthma cases were recruited from an ongoing study of asthma severity (N=141)." . _:424f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based study of the genetics of asthma in Nottingham, United Kingdom, whose families were recruited on the basis of pairs of siblings affected by asthma and were used in association studies of candidate genes with atopy; its index cases, children with asthma of European ancestry, later served as childhood asthma cases in a genetic study of the 17q21 asthma locus."; "PMID:12189166", "PMID:20372189"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSPA"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The one id is used for two unrelated samples from the same health system, a CIMBA contributing centre and an active-surveillance prostate cancer series, neither with a study name. NSUHS is the PGS Catalog's id for NorthShore University HealthSystem, Evanston, Illinois, USA, as a site, used for two unrelated samples: (1) the BRCA1/BRCA2 pathogenic-variant carriers NorthShore contributed to CIMBA (CIMBA's code NORTHSHORE; PMID:32665703, 28346442), and (2) 432 prostate cancer patients of European ancestry on active surveillance at NorthShore, evaluated for a prostate cancer PRS together with Johns Hopkins patients (PMID:33956350, PSS001140). Neither sample has a study name or a design of its own beyond the institution ('separate active surveillance studies conducted at ... NorthShore University HealthSystem'), so the id denotes an institution, not a named cohort. The CIMBA carriers are covered by CIMBA (COHO:0000901). It is not the Polish Breast Cancer Study (COHO:0000930), which the triage matched only through a shared line of the ethics list. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete North Shore University Health System"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18820; , ; ; "PGS000874", "PMID:26956414"; "A population-based case-control study of non-Hodgkin lymphoma in adults aged 20–74 years in New South Wales and the Australian Capital Territory, Australia, whose cases were diagnosed in 2000–2001 and identified through the New South Wales or Australian Capital Territory cancer registries (excluding people with HIV infection and transplant recipients), and whose controls were randomly selected from the electoral rolls and frequency-matched on age, sex and state or territory of residence."; 704; 694; "NSW", "New South Wales non-Hodgkin Lymphoma study"; ; rdfs:label "NSW non-Hodgkin lymphoma study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18820 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18820; "non-Hodgkin lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15095310+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A statewide case-control study was conducted in New South Wales, Australia, with population-based sampling of cases (n = 704) and controls (n = 694)." . _:42522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3775730/fullTextXML"; rdfs:comment "The New South Wales (NSW) study is a population-based case-control study of NHL cases (20-74 years old) identified in NSW or the Australian Capital Territory (ACT) between 2000 and 2001 and matched controls randomly selected from the NSW and ACT electoral rolls [24]. rs2509049 genotypes determined by Fluidigm technology (Fluidigm Corporation, San Francisco, CA) were available for 268 controls and 245 NHL cases." . _:42532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000874"; "Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis."; "PMID:29674426" . _:42542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26956414"; "Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia."; "PMID:26956414", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "NSW non-Hodgkin lymphoma study NSW 15 397 Population- based case- control study, Australia Incident NHL diagnosis identified through New South Wales (NSW) or Australian Capital Territory (ACT) cancer registry (excluding HIV- infected cases and transplant recipients) Controls randomly selected from electoral rolls, matched on age, sex and State of residence at diagnosis" . _:42552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of non-Hodgkin lymphoma in adults aged 20–74 years in New South Wales and the Australian Capital Territory, Australia, whose cases were diagnosed in 2000–2001 and identified through the New South Wales or Australian Capital Territory cancer registries (excluding people with HIV infection and transplant recipients), and whose controls were randomly selected from the electoral rolls and frequency-matched on age, sex and state or territory of residence."; "PMID:24069324", "PMID:25261932", "PMID:26340796"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 704; "NSW NHL cases and controls in the own 2004 paper"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15095310+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A statewide case-control study was conducted in New South Wales, Australia, with population-based sampling of cases (n = 704) and controls (n = 694)." . _:42572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 694; "NSW NHL cases and controls in the own 2004 paper"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15095310+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A statewide case-control study was conducted in New South Wales, Australia, with population-based sampling of cases (n = 704) and controls (n = 694)." . _:42582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSW"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. NTCC names no study: it is the Nijmegen thyroid cancer case-control set of deCODE genetics' thyroid cancer GWAS, patients of the Radboud University Nijmegen Medical Centre with Nijmegen Biomedical Study controls, which the papers call only the Dutch study population (PMID:22267200, PMID:24586183). Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Nijmegen Thyroid Cancer Cohort"@en; owl:deprecated true . a owl:NamedIndividual, ; , , ; "PMID:35820405"; "A prospective community-based cohort on disease prevention and health promotion, run by the Community Medicine Research Center of Chang Gung Memorial Hospital in Keelung since 2013, that enrols volunteers aged 20 or over living in Keelung City and New Taipei City in northeastern Taiwan through community health outreach sessions with a health examination, questionnaires and biological sampling, and follows them up."; 3387; "A Cohort Study on Disease Prevention and Health Promotion in Northeastern Region of Taiwan", "NTCMRC", "Northeastern Taiwan community medicine research cohort"; rdfs:label "Northeastern Taiwan Community Medicine Research Cohort"@en . _:42592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9677874/fullTextXML"; rdfs:comment "The Northeastern Taiwan Community Medicine Research Cohort (NTCMRC; ClinicalTrials.gov identifier NCT04839796) was a community cohort study launched in 2012 by the Community Medicine Research Center of Chang Gung Memorial Hospital in Keelung and enrolled adult participants in Northeastern Taiwan." . _:425a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35820405"; "Normative Data of Mini-Mental State Examination, Montreal Cognitive Assessment, and Alzheimer's Disease Assessment Scale-Cognitive Subscale of Community-Dwelling Older Adults in Taiwan."; "PMID:35820405", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9677874/fullTextXML"; rdfs:comment "MMSE, MoCA, and ADAS-cog were administered to 150 nondemented healthy adults aged 55–85 years during 2018–2020 as part of the Northeastern Taiwan Community Medicine Research Cohort." . _:425b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective community-based cohort on disease prevention and health promotion, run by the Community Medicine Research Center of Chang Gung Memorial Hospital in Keelung since 2013, that enrols volunteers aged 20 or over living in Keelung City and New Taipei City in northeastern Taiwan through community health outreach sessions with a health examination, questionnaires and biological sampling, and follows them up."; "PMID:35460926", "PMID:35820405", "https://clinicaltrials.gov/api/v2/studies/NCT04839796"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:425c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3387; "participants aged over 30 recruited through the cohort and enrolled in a 2022 study of alcohol consumption and metabolic abnormalities (the largest count stated; no size of the whole cohort is stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9317740/fullTextXML"; rdfs:comment "In total, 3387 participants (age range: 30–103 years, mean age ± SD: 57 ± 13.5 years, 38.2% males) were enrolled." . _:425d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NTCMRC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18834; , , ; "PMID:22158537"; "A hospital-based case-control study of type 2 diabetes in Han Chinese adults in Taiwan, whose cases were patients with type 2 diabetes diagnosed by American Diabetes Association criteria (onset at age 35 or older) recruited from the metabolism clinics of National Taiwan University Hospital, Taipei, and whose controls were people with normal glucose tolerance on a 75-g oral glucose tolerance test recruited from routine health examinations; it was a replication study of the Asian Genetic Epidemiology Network's type 2 diabetes genome-wide meta-analysis."; 1512; 1512; 3024; "NTUHDS"; rdfs:label "National Taiwan University Hospital Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18834 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:425e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18834; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The studied population comprised 1520 normoglycemic control subjects and 1520 type 2 diabetic patients from a Han Chinese population in Taiwan." . _:425f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The studied population comprised 1520 normoglycemic control subjects and 1520 type 2 diabetic patients from a Han Chinese population in Taiwan." . _:42602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22158537"; "Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians."; "PMID:22158537", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3582398/unicode"; rdfs:comment "Stage 3 included up to, 12,284 cases and 13,172 controls from five different studies comprised of the Japan Cardiometabolic Genome Epidemiology Network (CAGE), the Shanghai Diabetes Study I/II (SDS I/II), the Chinese University of Hong Kong Diabetes Study (CUHKDS), the National Taiwan University Hospital Diabetes Study (NTUHDS) and the Seoul National University Hospital Diabetes Study (SNUHDS) for de novo replication analysis." . _:42612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of type 2 diabetes in Han Chinese adults in Taiwan, whose cases were patients with type 2 diabetes diagnosed by American Diabetes Association criteria (onset at age 35 or older) recruited from the metabolism clinics of National Taiwan University Hospital, Taipei, and whose controls were people with normal glucose tolerance on a 75-g oral glucose tolerance test recruited from routine health examinations; it was a replication study of the Asian Genetic Epidemiology Network's type 2 diabetes genome-wide meta-analysis."; "PMID:22158537"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1512; "cases and controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "NTUH NTUHDS Chinese 1512 1512 3024 Case-control" . _:42632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1512; "cases and controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "NTUH NTUHDS Chinese 1512 1512 3024 Case-control" . _:42642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3024; "cases and controls in the AGEN-T2D stage 3 replication"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "NTUH NTUHDS Chinese 1512 1512 3024 Case-control" . _:42652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NTUHDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18843; , ; "PGS004863", "PMID:35379992"; "A Spanish case-control sample for genetic studies of Alzheimer's disease, assembled by the genomics company Neocodex in Seville, whose patients with sporadic Alzheimer's disease were diagnosed with possible or probable disease under NINCDS–ADRDA criteria by neurologists at the Virgen de la Arrixaca University Hospital in Murcia, and whose controls, of unknown cognitive status, came from the Spanish general population."; 327; 801; 1128; "Murcia study", "NxC", "The Neocodex–Murcia study"; ; rdfs:label "Neocodex–Murcia study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18843 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18843; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3219074/fullTextXML"; rdfs:comment "A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study." . _:42672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3219074/fullTextXML"; rdfs:comment "A sample of 327 sporadic AD patients diagnosed as possible or probable AD in accordance with the criteria of the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) [10] by neurologists at the Virgen de Arrixaca University Hospital in Murcia (Spain) and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study." . _:42682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004863"; "Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study."; "PMID:37450379" . _:42692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35379992"; "New insights into the genetic etiology of Alzheimer's disease and related dementias."; "PMID:35379992", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9005347/fullTextXML"; rdfs:comment "All of our stage I meta-analysis samples came from the following consortia/datasets: EADB, GR@ACE, EADI, GERAD/PERADES, DemGene, Bonn, the Rotterdam study, the CCHS study, NxC and the UKBB." . _:426a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Spanish case-control sample for genetic studies of Alzheimer's disease, assembled by the genomics company Neocodex in Seville, whose patients with sporadic Alzheimer's disease were diagnosed with possible or probable disease under NINCDS–ADRDA criteria by neurologists at the Virgen de la Arrixaca University Hospital in Murcia, and whose controls, of unknown cognitive status, came from the Spanish general population."; "PMID:21627779", "PMID:35379992"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:426b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 327; "sporadic Alzheimer's disease patients and Spanish general-population controls genotyped for the sample's own GWAS (the Murcia GWAS, 2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3219074/fullTextXML"; rdfs:comment "A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study." . _:426c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 801; "sporadic Alzheimer's disease patients and Spanish general-population controls genotyped for the sample's own GWAS (the Murcia GWAS, 2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3219074/fullTextXML"; rdfs:comment "A sample of 327 sporadic AD patients and 801 controls with unknown cognitive status from the Spanish general population were included in our initial study." . _:426d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1128; "sporadic Alzheimer's disease patients and Spanish general-population controls genotyped for the sample's own GWAS (the Murcia GWAS, 2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3219074/fullTextXML"; rdfs:comment "We genotyped 1,128 individuals using the Affymetrix Nsp I 250 K chip as previously described [9]." . _:426e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NxC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18853; , ; , ; "PGS000791", "PMID:9234025"; "A prospective cohort of healthy women aged 34–65 years enrolled by New York University between 1985 and 1991 at the Guttman Breast Diagnostic Institute, a breast cancer screening centre in New York City, who gave blood at enrolment and at later annual screening visits and have been followed to study hormones, diet, environmental factors and the risk of cancer."; 14275; "NYU Women's health study", "NYU-WHS", "NYUWHS", "New York University Women's Health Study"; ; rdfs:label "NYU Women's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:426f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18853; "breast cancer"; "https://doi.org/10.1007/BF02633522"; rdfs:comment "A cohort study is under way in New York City to evaluate how levels of endogenous reproductive hormones influence the risk of breast cancer." . _:42702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2395327/fullTextXML"; rdfs:comment "Between 1985 and 1991, the NYU Women's Health Study enrolled 14 275 healthy women aged 34–65 years at the Guttman Breast Diagnostic Institute, a breast cancer screening centre in New York City (Toniolo et al, 1991,1995)." . _:42712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000791"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:42722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:9234025"; "Reproducibility of a food frequency questionnaire used in the New York University Women's Health Study: effect of self-selection by study subjects."; "PMID:9234025", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9234025+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the study was to investigate the reproducibility of a food frequency questionnaire (FFQ) used in a cohort of 14,290 women enrolled in the NYU Women's Health Study." . _:42732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of healthy women aged 34–65 years enrolled by New York University between 1985 and 1991 at the Guttman Breast Diagnostic Institute, a breast cancer screening centre in New York City, who gave blood at enrolment and at later annual screening visits and have been followed to study hormones, diet, environmental factors and the risk of cancer."; "PMID:14710223", "PMID:15226762"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 14275; "Original NYU Women’s Health Study enrollment, 1985–1991"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2395327/fullTextXML"; rdfs:comment "Between 1985 and 1991, the NYU Women's Health Study enrolled 14 275 healthy women aged 34–65 years at the Guttman Breast Diagnostic Institute, a breast cancer screening centre in New York City (Toniolo et al, 1991,1995)." . _:42752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NYU-WHS"; . _:42762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NYUWHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18862; , ; "PMID:21378990"; "A case-control sample of patients with angiographically proven coronary artery disease (stenosis of at least 50% of the vessel diameter in at least one coronary artery) from the Otago-Southland region of New Zealand, with age-matched controls from the same region who had no history of ischaemic heart disease, assembled alongside abdominal aortic aneurysm and peripheral arterial disease series from the same region; it served as a replication sample in genetic studies of coronary artery disease."; 495; 460; "NZ-CAD", "The New Zealand CAD Study"; rdfs:label "New Zealand CAD Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18862 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18862; "coronary artery disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.323/MediaObjects/41588_2009_BFng323_MOESM13_ESM.pdf"; rdfs:comment "New Zealand CAD patients all had angiographically proven coronary artery stenosis ≥50% of the vessel internal diameter in at least 1 vessel." . _:42782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2775049/"; rdfs:comment "Additional cohorts with coronary artery disease (CAD) and peripheral arterial disease (PAD)15 from the same geographical region of the New Zealand as the AAA controls groups were examined to determine the specificity of any associations with vascular disease phenotype." . _:42792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21378990"; "Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease."; "PMID:21378990", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "The New Zealand CAD Study 495/460 83.0 28.0/42.0 61.1 (10.4)/ 68.0 (6.6) n. a. 24" . _:427a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control sample of patients with angiographically proven coronary artery disease (stenosis of at least 50% of the vessel diameter in at least one coronary artery) from the Otago-Southland region of New Zealand, with age-matched controls from the same region who had no history of ischaemic heart disease, assembled alongside abdominal aortic aneurysm and peripheral arterial disease series from the same region; it served as a replication sample in genetic studies of coronary artery disease."; "PMID:18239157", "PMID:19198610", "PMID:21378990"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:427b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 495; "coronary artery disease cases and controls of the study in the CARDIoGRAM 2011 replication sample (analysed subset; no size of the whole study is stated, and no total is given)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "The New Zealand CAD Study 495/460 83.0 28.0/42.0 61.1 (10.4)/ 68.0 (6.6) n. a. 24" . _:427c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 460; "coronary artery disease cases and controls of the study in the CARDIoGRAM 2011 replication sample (analysed subset; no size of the whole study is stated, and no total is given)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.784/MediaObjects/41588_2011_BFng784_MOESM10_ESM.pdf"; rdfs:comment "The New Zealand CAD Study 495/460 83.0 28.0/42.0 61.1 (10.4)/ 68.0 (6.6) n. a. 24" . _:427d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NZ-CAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18870; , , ; "PGS004696", "PMID:12686330"; "A prospective, multicentre observational registry of patients with acute myocardial infarction at 25 collaborating hospitals in the Osaka region of Japan, coordinated from Osaka University Graduate School of Medicine, which since 1998 has recorded demographic, procedural and outcome data and collected blood samples from consecutively enrolled patients to study the treatment and prognosis of acute myocardial infarction."; 12093; "OACIS"; ; rdfs:label "Osaka Acute Coronary Insufficiency Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18870 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:427e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18870; "acute myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12533665/fullTextXML"; rdfs:comment "A total of 12 093 patients with AMI were registered in the OACIS registry between 1998 and 2014." . _:427f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7925312/fullTextXML"; rdfs:comment "The Osaka Acute Coronary Insufficiency Study (OACIS) is a prospective, multicenter, observational study in which 25 collaborating hospitals in the Osaka region of Japan record demographic, procedural, and outcome data and collect blood samples from patients with AMI." . _:42802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004696"; "Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization."; "PMID:38380516" . _:42812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:12686330"; "Impact of high-sensitivity C-reactive protein on predicting long-term mortality of acute myocardial infarction."; "PMID:12686330", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12686330+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We studied 1,309 patients with AMI enrolled in the Osaka Acute Coronary Insufficiency Study between April 1999 and June 2001." . _:42822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre observational registry of patients with acute myocardial infarction at 25 collaborating hospitals in the Osaka region of Japan, coordinated from Osaka University Graduate School of Medicine, which since 1998 has recorded demographic, procedural and outcome data and collected blood samples from consecutively enrolled patients to study the treatment and prognosis of acute myocardial infarction."; "PMID:33693242", "PMID:40611481"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12093; "OACIS acute myocardial infarction patients registered 1998-2014"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12533665/fullTextXML"; rdfs:comment "A total of 12 093 patients with AMI were registered in the OACIS registry between 1998 and 2014." . _:42842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OACIS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18878; , ; , ; "PGS001778", "PMID:32424353"; "A hospital-based breast cancer case-control study of the University of Oulu and Oulu University Hospital, Finland, whose cases are breast cancer patients from Northern Finland, unselected for age and family history, collected at Oulu University Hospital from 2000 onwards, and whose controls are healthy female blood donors of the Finnish Red Cross from the Oulu area; it studies inherited susceptibility to breast cancer and contributes to the Breast Cancer Association Consortium."; 1147; 510; "OBCS"; ; rdfs:label "Oulu Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18878 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18878; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5645429/fullTextXML"; rdfs:comment "The unselected breast cancer samples were collected from patients operated at the Oulu University Hospital during 2000–2014, and they were unselected for age at disease onset and a family history of cancer." . _:42862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5095781/fullTextXML"; rdfs:comment "The unselected breast cancer patient samples from Northern Finland were collected at the Oulu University Hospital between the years 2000 and 2007." . _:42872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:42882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The OBCS was supported by research grants from the Finnish Cancer Foundation, the Academy of Finland (grant number 250083, 122715 and Center of Excellence grant number 251314), the Finnish Cancer Foundation, the Sigrid Juselius Foundation, the University of Oulu, the University of Oulu Support Foundation and the special Governmental EVO funds for Oulu University Hospital- based research activities." . _:42892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based breast cancer case-control study of the University of Oulu and Oulu University Hospital, Finland, whose cases are breast cancer patients from Northern Finland, unselected for age and family history, collected at Oulu University Hospital from 2000 onwards, and whose controls are healthy female blood donors of the Finnish Red Cross from the Oulu area; it studies inherited susceptibility to breast cancer and contributes to the Breast Cancer Association Consortium."; "PMID:27542569", "PMID:28702895", "PMID:30177847"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:428a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1147; "unselected Oulu invasive breast cancer cases and healthy female controls genotyped in the 2017 FANCM study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5645429/fullTextXML"; rdfs:comment "The FANCM c.5791C>T and c.5101C>T mutations were screened among 1323 breast cancer cases (1147 unselected, 153 familial, and 56 young breast cancer patients) and 510 healthy female controls from the Oulu area." . _:428b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 510; "unselected Oulu invasive breast cancer cases and healthy female controls genotyped in the 2017 FANCM study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5645429/fullTextXML"; rdfs:comment "The FANCM c.5791C>T and c.5101C>T mutations were screened among 1323 breast cancer cases (1147 unselected, 153 familial, and 56 young breast cancer patients) and 510 healthy female controls from the Oulu area." . _:428c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18887; , ; "PGS000734", "PMID:31866242"; "A prospective statewide study of adults who underwent surgical resection for primary invasive colorectal cancer at 51 hospitals across Ohio, United States, enrolled from 2013 to 2016, in which every tumour was screened for mismatch-repair deficiency and those meeting high-risk criteria (mismatch-repair deficiency, diagnosis before 50, multiple primary tumours or an affected first-degree relative) had multigene germline panel testing, to identify Lynch syndrome and other hereditary cancer syndromes."; 3310; "OCCPI"; ; rdfs:label "Ohio Colorectal Cancer Prevention Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18887 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:428d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18887; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34250417+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Three thousand three hundred ten unselected adults who underwent surgical resection for primary invasive CRC were prospectively accrued from 51 hospitals across Ohio between January 1, 2013, and December 31, 2016." . _:428e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34250417+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Three thousand three hundred ten unselected adults who underwent surgical resection for primary invasive CRC were prospectively accrued from 51 hospitals across Ohio between January 1, 2013, and December 31, 2016." . _:428f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:42902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31866242"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7103489/unicode"; rdfs:comment "Screening of colorectal cancer cases for the presence of Lynch syndrome was systematically carried out for CRC cases recruited through the Ohio State University Medical Center (OSUMC) (Table S1: HNPCC, OCCPI, and OSUMC) as described in detail elsewhere." . _:42912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective statewide study of adults who underwent surgical resection for primary invasive colorectal cancer at 51 hospitals across Ohio, United States, enrolled from 2013 to 2016, in which every tumour was screened for mismatch-repair deficiency and those meeting high-risk criteria (mismatch-repair deficiency, diagnosis before 50, multiple primary tumours or an affected first-degree relative) had multigene germline panel testing, to identify Lynch syndrome and other hereditary cancer syndromes."; "PMID:34250417", "PMID:42435229"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3310; "OCCPI patients completing tumour screening and germline testing"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8232834/"; rdfs:comment "Tumor screening and germline testing were completed for 3,310 patients, representing 12.4% of CRC diagnosed in Ohio during the study period per the Ohio Incidence and Surveillance System (N = 26,692)." . _:42932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCCPI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18895, _:genid-371333f489424440b12a13b9d98ced822608-genid18897; , ; ; "PGS000004", "PMID:29058716"; "A study of the Ontario Cancer Genetics Network, a Cancer Care Ontario-funded research network based at the Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital in Toronto, Ontario, Canada, that contributes carriers of pathogenic BRCA1 and BRCA2 variants and their data to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of cancer risk."; 71; 133; "OCGN"; ; rdfs:label "Ontario Cancer Genetics Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18895 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18897 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18895; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:42952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18897; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:42962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "OCGN | Ontario Cancer Genetics Network | CANADA | 133 | 71 | | 6 | 4" . _:42972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:42982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "OCGN | Ontario Cancer Genetics Network | CANADA | 133 | 71 | | 6 | 4" . _:42992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of the Ontario Cancer Genetics Network, a Cancer Care Ontario-funded research network based at the Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital in Toronto, Ontario, Canada, that contributes carriers of pathogenic BRCA1 and BRCA2 variants and their data to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of cancer risk."; "PMID:17466083", "PMID:28376175", "PMID:29058716"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:429a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 71; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "OCGN | Ontario Cancer Genetics Network | CANADA | 133 | 71 | | 6 | 4" . _:429b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 133; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "OCGN | Ontario Cancer Genetics Network | CANADA | 133 | 71 | | 6 | 4" . _:429c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCGN"; . a owl:NamedIndividual, ; ; "OCS"; ; rdfs:label "Ovarian Cancer Study"@en . _:429d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. ODZH is the PGS Catalog's id for the Spanish case-control material that deCODE genetics' multi-population cancer GWAS used as a replication group: cancer patients (lung, ovarian and thyroid cancer in the papers read) recruited from the Oncology Department of Zaragoza Hospital, with controls who attended the University Hospital in Zaragoza for other conditions (PMID:21303977, 28195142, 21964575). The papers call it only 'the Spanish study population' or 'Zaragoza, Spain', with case recruitment differing by cancer; it has no study name and no design of its own beyond the hospital, so the id denotes a site, not a named cohort (like LUHR, E651, the Landspitali material in the same deCODE papers). No COHO term covers it. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Oncology Department of Zaragoza Hospital"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18907; ; , ; ; "PGS000734", "PMID:11007659"; "A population-based familial colorectal cancer registry in Ontario, Canada, one of the sites of the US National Cancer Institute's Colon Cancer Family Registry, which recruited people aged 20 to 74 with colorectal cancer diagnosed from July 1997 to June 2000, identified through the Ontario Cancer Registry, and population controls randomly sampled from Ontario residents and frequency-matched to the cases by sex and five-year age group, who completed family-history, epidemiologic and food questionnaires and gave blood samples."; 1395; "OFCCR", "Ontario Familial Colon Cancer Registry", "Ontario Registry for Studies of Familial Colorectal Cancer"; ; rdfs:label "Ontario Familial Colorectal Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18907 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:429e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18907; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11007659+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Ontario Familial Colon Cancer Registry (OFCCR) is a novel registry that collects family history information, epidemiologic data, blood samples and tumour specimens from a population-based sample of colorectal cancer patients and their families." . _:429f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng2089/MediaObjects/41588_2007_BFng2089_MOESM20_ESM.pdf"; rdfs:comment "The population-based Ontario Cancer Registry (OCR) was used to identify and recruit colorectal cancer cases, aged 20-74 and diagnosed between July 1, 1997 and June 30, 2000." . _:42a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng2089/MediaObjects/41588_2007_BFng2089_MOESM20_ESM.pdf"; rdfs:comment "The OFCCR is one of six international sites participating in the Cooperative Familial Registry for Colorectal Studies established by the US National Cancer Institute (http://epi.grants.cancer.gov/CFR/)." . _:42a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:42a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:11007659"; "Discovery of common and rare genetic risk variants for colorectal cancer."; "PMID:11007659", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11007659+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Ontario Familial Colon Cancer Registry (OFCCR) is a novel registry that collects family history information, epidemiologic data, blood samples and tumour specimens from a population-based sample of colorectal cancer patients and their families." . _:42a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based familial colorectal cancer registry in Ontario, Canada, one of the sites of the US National Cancer Institute's Colon Cancer Family Registry, which recruited people aged 20 to 74 with colorectal cancer diagnosed from July 1997 to June 2000, identified through the Ontario Cancer Registry, and population controls randomly sampled from Ontario residents and frequency-matched to the cases by sex and five-year age group, who completed family-history, epidemiologic and food questionnaires and gave blood samples."; "PMID:17618283"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1395; "Participating OFCCR probands in its first recruitment year"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11007659+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The first-year response rate was 61%, resulting in 1,395 participating probands." . _:42a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OFCCR"; . a owl:NamedIndividual, ; , ; , ; "PGS003860", "PMID:31152163"; "A population-based study of a genetic isolate in the Ogliastra region of Sardinia, Italy, in which the inhabitants of ten villages (Baunei, Escalaplano, Loceri, Perdasdefogu, Seui, Seulo, Talana, Triei, Urzulei and Ussassai), invited by public proclamations and letters to every family, took part from 2002 to 2008 in a cross-sectional epidemiological survey with blood sampling and extended pedigrees, to study the genetic and environmental determinants of complex traits."; 12517; "OGP", "Ogliastra Genetic Park Study"; ; rdfs:label "Ogliastra Genetic Park"@en . _:42a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3012770/"; rdfs:comment "We analyzed data from 12,517 inhabitants of the Ogliastra region, in central eastern Sardinia, Italy (Figure 1)." . _:42a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003860"; "A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration."; "PMID:37055258" . _:42a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31152163"; "A catalog of genetic loci associated with kidney function from analyses of a million individuals."; "PMID:31152163", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0407-x/MediaObjects/41588_2019_407_MOESM1_ESM.pdf"; rdfs:comment "The Ogliastra Genetic Park study was supported by grant from the Italian Ministry of Education, University and Research (MIUR) no. 5571/DSPAR/2002." . _:42a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of a genetic isolate in the Ogliastra region of Sardinia, Italy, in which the inhabitants of ten villages (Baunei, Escalaplano, Loceri, Perdasdefogu, Seui, Seulo, Talana, Triei, Urzulei and Ussassai), invited by public proclamations and letters to every family, took part from 2002 to 2008 in a cross-sectional epidemiological survey with blood sampling and extended pedigrees, to study the genetic and environmental determinants of complex traits."; "PMID:23382888", "PMID:23527229", "PMID:26180744"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12517; "inhabitants of the ten Ogliastra villages (about 80% of residents, aged 3 to 105) who took part in the 2002-2008 survey"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3012770/"; rdfs:comment "We performed a cross-sectional study on 12,517 inhabitants of ten villages (80% of residents) in a secluded area of Sardinia (Ogliastra)." . _:42ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OGP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18922; , ; ; "PGS004921", "PMID:19885677"; "A case-control study of coronary artery disease at the University of Ottawa Heart Institute, Ottawa, Canada, that recruited people of European ancestry without diabetes, with cases defined by more than 50% stenosis of a major coronary artery at angiography, myocardial infarction or coronary revascularisation, and controls who were either angiographically free of coronary disease or elderly and asymptomatic, genotyped in several phases for genome-wide association studies of coronary artery disease."; 3273; 645; "OHGS", "OHS", "Ottawa Heart Genomic Study", "Ottawa Heart Study"; ; rdfs:label "Ottawa Heart Genomics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18922; "coronary artery disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4152257/"; rdfs:comment "The OHGS excluded individuals with diabetes mellitus to ensure that the genetic risk primarily associated with coronary artery disease would not be confounded by the risk associated with diabetes, as described previously [16]." . _:42ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "OHGS The Ottawa Heart Genomics Study 17478681 European Canada CAD/MI Cases had at least one of myocardial infarction, coronary artery bypass graft, percutenaeous intervention or a stenosis of at least 50% in at least one epicardial vessel." . _:42ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004921"; "Sexual Differences in Genetic Predisposition of Coronary Artery Disease."; "PMID:33332181" . _:42af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19885677"; "The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank Studies."; "PMID:19885677", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19885677+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We asked whether GATA2 associates with sporadic cases of CAD in the Ottawa Heart Genomics Study (OHGS) and Cleveland Clinic (CC) populations." . _:42b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of coronary artery disease at the University of Ottawa Heart Institute, Ottawa, Canada, that recruited people of European ancestry without diabetes, with cases defined by more than 50% stenosis of a major coronary artery at angiography, myocardial infarction or coronary revascularisation, and controls who were either angiographically free of coronary disease or elderly and asymptomatic, genotyped in several phases for genome-wide association studies of coronary artery disease."; "PMID:21378990", "PMID:23202125", "PMID:25180781", "PMID:28209224"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3273; "OHGS angiographic cases and controls in the 2014 PCSK9 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4152257/"; rdfs:comment "Cases (N = 3273) Controls (N = 645)" . _:42b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 645; "OHGS angiographic cases and controls in the 2014 PCSK9 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4152257/"; rdfs:comment "Cases (N = 3273) Controls (N = 645)" . _:42b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OHGS"; . _:42b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OHS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The Columbus-area HNPCC study, one of the named studies behind this id, has no COHO term and no PGS Catalog id of its own; the curator may want to consider it separately if a catalog or resource names it. Ohio_SU is the PGS Catalog's id for the Ohio State University's combined contribution to the colorectal cancer GWAS of Huyghe et al. 2019 (PMID:30510241): cases from two separate named studies, the Columbus-area HNPCC study and the Ohio Colorectal Cancer Prevention Initiative, matched to controls from the OSUMC Human Genetics Sample Bank (Columbus Area Controls Sample Bank). The id names the university, not a study; the combined set has no name or design of its own, and its parts are distinct studies that the Catalog also lists separately (OCCPI, E836, COHO:0002196; OSUMC, E857, judged not a cohort; OSU, E855, the Stefanie Spielman Breast Bank and the Columbus Area Control Sample Bank). So it is not a cohort, and it should not be a synonym of any of those. None of the COHO terms the triage matched (BioVU, TGEN2, York, CRC, etc.) is related. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Ohio State University"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Ottawa Heart Study of PMID:28209224 cites the design paper of the Ottawa Heart Genomics Study (PMID:17478681) and has its design. Replaced by COHO:0002202 (Ottawa Heart Genomics Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Ottawa Heart Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18932; , ; ; "PGS000350", "PMID:26752265"; "A multicentre randomised clinical trial at 22 clinical centres in the United States that from 1994 to 1996 enrolled people aged 40 to 80 with ocular hypertension and no evidence of glaucomatous damage, randomised them to topical ocular hypotensive medication or close observation, and followed them for the onset of primary open-angle glaucoma."; 1637; "OHTS"; ; rdfs:label "Ocular Hypertension Treatment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18932 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18932; "primary open angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10326953+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Ocular Hypertension Treatment Study (OHTS) seeks to evaluate the safety and efficacy of topical ocular hypotensive medication in preventing or delaying the onset of visual field loss and/or optic nerve damage in subjects with ocular hypertension at moderate risk for developing primary open angle glaucoma." . _:42b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11437927/fullTextXML"; rdfs:comment "The OHTS was a prospective, multicenter investigation conducted at 22 centers across the United States, aimed at preventing or delaying the onset of VF loss in individuals with ocular hypertension (OHT)." . _:42b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:42b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26752265"; "Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma."; "PMID:26752265", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4731307/unicode"; rdfs:comment "For all 8 NEIGHBORHOOD studies cases were primarily defined as at least 1 reliable visual field showing loss consistent with glaucoma, without a secondary cause, or CDR (cup-to-disc ratio) ≥ 0.7 or CDR asymmetry ≥ 0.2 or documented progression of optic nerve degeneration (in the Ocular Hypertension Treatment Study [OHTS])." . _:42b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised clinical trial at 22 clinical centres in the United States that from 1994 to 1996 enrolled people aged 40 to 80 with ocular hypertension and no evidence of glaucomatous damage, randomised them to topical ocular hypotensive medication or close observation, and followed them for the onset of primary open-angle glaucoma."; "PMID:10326953", "PMID:12049574", "PMID:39346574"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1637; "people with ocular hypertension randomized at 22 clinical centres, 28 February 1994 to 31 October 1996 (1994-1996)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10326953+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We describe the baseline characteristics of 1637 subjects randomized between February 28, 1994, and October 31, 1996." . _:42bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OHTS"; . a owl:NamedIndividual, ; , , ; "PGS000751", "PMID:26443449"; "A collection of DNA samples donated by healthy Japanese volunteers who were members of the Rotary Club of Osaka-Midosuji (Rotary International District 2660) in Osaka, Japan, used as controls in genome-wide association studies of the Japanese population, often together with BioBank Japan participants."; 1023; "Midosuji Rotary Club", "O-MRC"; ; rdfs:label "Osaka-Midosuji Rotary Club"@en . _:42bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4633711/fullTextXML"; rdfs:comment "Controls in the Japanese GWAS were also selected from BioBank Japan for other diseases as well as healthy subjects from the Osaka-Midosuji Rotary Club (Osaka, Japan)." . _:42bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:42be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26443449"; "Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer."; "PMID:26443449", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4633711/fullTextXML"; rdfs:comment "Controls in the Japanese GWAS were also selected from BioBank Japan for other diseases as well as healthy subjects from the Osaka-Midosuji Rotary Club (Osaka, Japan)." . _:42bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples donated by healthy Japanese volunteers who were members of the Rotary Club of Osaka-Midosuji (Rotary International District 2660) in Osaka, Japan, used as controls in genome-wide association studies of the Japanese population, often together with BioBank Japan participants."; "PMID:20686608", "PMID:22396660", "PMID:24143190", "PMID:26443449"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1023; "healthy volunteers of the club whose DNA served as controls in a 2012 Japanese GWAS of nephrolithiasis (the largest count of the club's volunteers stated; no size of the whole collection is stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3291538/fullTextXML"; rdfs:comment "We also obtained 1023 Japanese control DNAs from healthy volunteers from the Osaka-Midosuji Rotary Club, Osaka, Japan." . _:42c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "O-MRC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. OncoArray: Prostate Cancer is the prostate cancer OncoArray project of the ELLIPSE consortium (dbGaP phs001391; PMID:29892050). Replaced by COHO:0000752 (Elucidating Loci Involved in Prostate Cancer Susceptibility), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete OncoArray: Prostate Cancer"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18946; , ; ; "PMID:28050675"; "An ovarian cancer registry and tissue repository at Oregon Health & Science University in Portland, Oregon, USA, which collects ovarian and fallopian tube tissue, blood samples and clinical information, and whose case-only series of women with ovarian cancer, enrolled from 2007 onwards, takes part in the Ovarian Cancer Association Consortium under the study code ORE."; 181; "OOCR", "OOCRTR", "ORE", "Oregon Ovarian Cancer Registry and Tissue Repository"; rdfs:label "Oregon Ovarian Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18946 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18946; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7055545/fullTextXML"; rdfs:comment "Using a TMA with 181 patient ovarian cancer tissue samples we examined the nuclear and cytoplasmic expression of FANCD2 protein. cFANCD2 staining was observed in 73 (40.33%) of the ovarian carcinomas." . _:42c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5593071/"; rdfs:comment "Oregon OvarianCancer Registry ORE Caseonly USA 2007-present" . _:42c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28050675"; "Predictors of pretreatment CA125 at ovarian cancer diagnosis: a pooled analysis in the Ovarian Cancer Association Consortium."; "PMID:28050675", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5593071/"; rdfs:comment "New England Case Control Study (NEC) (31), Oregon Ovarian Cancer Registry (ORE)(32, 33), Danish Pelvic Mass Study (PVD)(34)" . _:42c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ovarian cancer registry and tissue repository at Oregon Health & Science University in Portland, Oregon, USA, which collects ovarian and fallopian tube tissue, blood samples and clinical information, and whose case-only series of women with ovarian cancer, enrolled from 2007 onwards, takes part in the Ovarian Cancer Association Consortium under the study code ORE."; "PMID:28050675", "PMID:32165999", "PMID:33227068", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 181; "OOCRTR ovarian cancer patients whose tissue microarray was analysed for FANCD2"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7055545/fullTextXML"; rdfs:comment "Using a TMA with 181 patient ovarian cancer tissue samples we examined the nuclear and cytoplasmic expression of FANCD2 protein. cFANCD2 staining was observed in 73 (40.33%) of the ovarian carcinomas." . _:42c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OOCR"; . _:42c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OOCRTR"; . _:42c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18955; , ; "PGS000770", "PMID:24064335"; "A cross-sectional study of osteoporosis and related traits in randomly recruited, healthy adult Caucasians living in Omaha, Nebraska, United States, and its surrounding areas, screened by exclusion criteria for chronic and metabolic diseases, with bone mineral density and body composition measured by dual-energy X-ray absorptiometry. Its unrelated genotyped members formed genome-wide association samples for obesity-related traits."; 1879; "OOS", "Omaha osteoporosis study"; ; rdfs:label "Omaha Osteoporosis Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18955 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18955; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6707235/fullTextXML"; rdfs:comment "This study used 11,315 randomly recruited Caucasian subjects, from three cross-sectional study cohorts: 5,939 from the Louisiana Osteoporosis Study (LOS, New Orleans and Baton Rouge area, Coordinates: ~30oN~90–91oW)39, 3,497 from the Kansas City Osteoporosis Study (KCOS, Kansas City area, Coordinates: ~39oN~94oW)40, and 1,879 from the Omaha Osteoporosis Study (OOS, Omaha area, Coordinates: ~41oN~96oW)41." . _:42cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2900891/"; rdfs:comment "All of the chosen subjects were US Caucasians of Northern European origin living in Omaha, NE, USA, and its surrounding areas." . _:42cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:42cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24064335"; "Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity."; "PMID:24064335", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3888264/"; rdfs:comment "The three in-house samples included those from the Omaha Osteoporosis Study (OOS, with 998 unrelated Caucasian subjects), Kansas-City Osteoporosis Study (KCOS, with 2283 unrelated Caucasian subjects) and China Osteoporosis Study (COS, with 1624 unrelated Chinese Han subjects)." . _:42ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of osteoporosis and related traits in randomly recruited, healthy adult Caucasians living in Omaha, Nebraska, United States, and its surrounding areas, screened by exclusion criteria for chronic and metabolic diseases, with bone mineral density and body composition measured by dual-energy X-ray absorptiometry. Its unrelated genotyped members formed genome-wide association samples for obesity-related traits."; "PMID:18325910", "PMID:31444391"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1879; "randomly recruited Caucasian adults of the OOS in a 2019 analysis of the group's three osteoporosis cohorts"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6707235/fullTextXML"; rdfs:comment "This study used 11,315 randomly recruited Caucasian subjects, from three cross-sectional study cohorts: 5,939 from the Louisiana Osteoporosis Study (LOS, New Orleans and Baton Rouge area, Coordinates: ~30oN~90–91oW)39, 3,497 from the Kansas City Osteoporosis Study (KCOS, Kansas City area, Coordinates: ~39oN~94oW)40, and 1,879 from the Omaha Osteoporosis Study (OOS, Omaha area, Coordinates: ~41oN~96oW)41." . _:42d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18963, _:genid-371333f489424440b12a13b9d98ced822608-genid18965, _:genid-371333f489424440b12a13b9d98ced822608-genid18967, _:genid-371333f489424440b12a13b9d98ced822608-genid18969; , ; ; "PMID:36744914"; "A national prospective population-based cohort of Australian women diagnosed with histologically confirmed invasive epithelial ovarian, primary peritoneal or fallopian tube cancer from 2012 to 2015, run from QIMR Berghofer Medical Research Institute in Brisbane, who completed questionnaires at recruitment and repeatedly during follow-up and whose medical records were abstracted, to study how lifestyle factors relate to outcomes after an ovarian cancer diagnosis."; 958; "OPAL", "OPAL Study", "OPL", "Ovarian cancer Prognosis And Lifestyle Study", "Ovarian cancer Prognosis And Lifestyle study", "Ovarian cancer Prognosis and Lifestyle study"; rdfs:label "Ovarian Cancer Prognosis and Lifestyle Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18963 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18965 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18967 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18969 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18963; "fallopian tube cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10165482/fullTextXML"; rdfs:comment "The Ovarian cancer Prognosis And Lifestyle (OPAL) study is a national prospective cohort of Australian women aged 21-79 years diagnosed with histologically confirmed invasive epithelial ovarian, primary peritoneal, or fallopian tube cancer from 2012 to 2015." . _:42d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18965; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10165482/fullTextXML"; rdfs:comment "The Ovarian cancer Prognosis And Lifestyle (OPAL) study is a national prospective cohort of Australian women aged 21-79 years diagnosed with histologically confirmed invasive epithelial ovarian, primary peritoneal, or fallopian tube cancer from 2012 to 2015." . _:42d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18967; "primary peritoneal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10165482/fullTextXML"; rdfs:comment "The Ovarian cancer Prognosis And Lifestyle (OPAL) study is a national prospective cohort of Australian women aged 21-79 years diagnosed with histologically confirmed invasive epithelial ovarian, primary peritoneal, or fallopian tube cancer from 2012 to 2015." . _:42d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18969; "lifestyle"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33144284+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the prospective Ovarian cancer Prognosis And Lifestyle (OPAL) study, diet-quality scores were calculated using data from food frequency questionnaires completed pre-diagnosis (n = 650) and 12 months' post-diagnosis (n = 503)." . _:42d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33034053+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the potential survival benefit of statins in women with ovarian cancer using data from the Ovarian cancer Prognosis and Lifestyle study, a prospective study of Australian women aged 18 to 79 years, diagnosed with ovarian cancer from 2012 to 2015 and followed for 5 to 8 years." . _:42d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36744914"; "Common analgesics and ovarian cancer survival: the Ovarian cancer Prognosis And Lifestyle (OPAL) Study."; "PMID:36744914", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10165482/fullTextXML"; rdfs:comment "The Ovarian cancer Prognosis And Lifestyle (OPAL) study is a national prospective cohort of Australian women aged 21-79 years diagnosed with histologically confirmed invasive epithelial ovarian, primary peritoneal, or fallopian tube cancer from 2012 to 2015." . _:42d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national prospective population-based cohort of Australian women diagnosed with histologically confirmed invasive epithelial ovarian, primary peritoneal or fallopian tube cancer from 2012 to 2015, run from QIMR Berghofer Medical Research Institute in Brisbane, who completed questionnaires at recruitment and repeatedly during follow-up and whose medical records were abstracted, to study how lifestyle factors relate to outcomes after an ovarian cancer diagnosis."; "PMID:33034053", "PMID:36744914", "PMID:40118516"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 958; "OPAL women who consented to participate following diagnoses in 2012-2015"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10165482/fullTextXML"; rdfs:comment "Overall, 958 women (78% of those approached) consented to participate (Figure 1)." . _:42d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPAL"; . _:42da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18977; , ; "PMID:22074755"; "A multicentre study of temporomandibular disorder (TMD) that from 2006 recruited community volunteers aged 18 to 44 years in and around four US academic health centres (in Baltimore, Buffalo, Chapel Hill and Gainesville) into a prospective cohort of people free of TMD, followed for first-onset TMD, and a baseline case-control study comparing people with chronic TMD with controls drawn from the cohort, to identify risk factors for TMD pain."; 185; 1633; 3263; "OPPERA", "OPPERA study", "Orofacial Pain Prospective Evaluation and Risk Assessment", "Prospective Evaluation and Risk Assessment"; rdfs:label "Orofacial Pain: Prospective Evaluation and Risk Assessment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18977 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18977; "temporomandibular disorders"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3666856/"; rdfs:comment "The project “Orofacial Pain: Prospective Evaluation and Risk Assessment” (OPPERA) was designed to identify a broad range of genetic, physiologic, psychosocial and clinical characteristics that influence development of painful temporomandibular disorders (TMD)." . _:42dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3666856/"; rdfs:comment "Volunteers aged 18-44 years were recruited at four US study sites: 3,263 people without TMD were enrolled into the prospective cohort study; 1,633 of them were selected as controls for the baseline case-control study." . _:42dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22074755"; "Potential genetic risk factors for chronic TMD: genetic associations from the OPPERA case control study."; "PMID:22074755", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22074755+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study evaluated 358 genes involved in pain processes, comparing allelic frequencies between 166 cases with chronic TMD and 1,442 controls enrolled in the OPPERA (Orofacial Pain: Prospective Evaluation and Risk Assessment) study cooperative agreement." . _:42de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre study of temporomandibular disorder (TMD) that from 2006 recruited community volunteers aged 18 to 44 years in and around four US academic health centres (in Baltimore, Buffalo, Chapel Hill and Gainesville) into a prospective cohort of people free of TMD, followed for first-onset TMD, and a baseline case-control study comparing people with chronic TMD with controls drawn from the cohort, to identify risk factors for TMD pain."; "PMID:22074749", "PMID:22074754"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 185; "people aged 18-44 without TMD enrolled into the prospective cohort, May 2006 to November 2008; cases and controls are those of the baseline case-control study, whose 1,633 controls were drawn from the cohort and whose 185 chronic TMD cases were enrolled in addition (2006-2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3666856/"; rdfs:comment "The baseline case-control study recruited 185 people with chronic TMD, comparing them with 1,633 controls drawn from the enrollees in the prospective cohort study." . _:42e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1633; "people aged 18-44 without TMD enrolled into the prospective cohort, May 2006 to November 2008; cases and controls are those of the baseline case-control study, whose 1,633 controls were drawn from the cohort and whose 185 chronic TMD cases were enrolled in addition (2006-2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3666856/"; rdfs:comment "The baseline case-control study recruited 185 people with chronic TMD, comparing them with 1,633 controls drawn from the enrollees in the prospective cohort study." . _:42e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3263; "people aged 18-44 without TMD enrolled into the prospective cohort, May 2006 to November 2008; cases and controls are those of the baseline case-control study, whose 1,633 controls were drawn from the cohort and whose 185 chronic TMD cases were enrolled in addition (2006-2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3666856/"; rdfs:comment "Volunteers aged 18-44 years were recruited at four US study sites: 3,263 people without TMD were enrolled into the prospective cohort study; 1,633 of them were selected as controls for the baseline case-control study." . _:42e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPPERA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18986, _:genid-371333f489424440b12a13b9d98ced822608-genid18988; , , , , , , , , , , , , , , , , ; ; "PMID:27749845"; "An international hospital-based case–control study of cancer of the oral cavity and oropharynx, coordinated by the International Agency for Research on Cancer in nine countries (Italy, Spain, Northern Ireland, Poland, Canada, India, Sudan, Australia and Cuba), which interviewed its participants and collected oral exfoliated cells and blood from cases and controls, and fresh tumour biopsies from cases, to study the role of human papillomavirus in these cancers. It is one of the studies of the International Head and Neck Cancer Epidemiology Consortium, and participants from its centres in Canada, Italy, Poland and Spain were genotyped for a genome-wide association study of oral cavity and pharyngeal cancer."; 1670; 1732; "IARC - oral cancer", "IARC ORC multicenter study", "IARC oral cancer", "ORC"; rdfs:label "IARC Oral Cancer Multicenter study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18986 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid18988 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18986; "oropharyngeal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14652239+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited 1670 case patients (1415 with cancer of the oral cavity and 255 with cancer of the oropharynx) and 1732 control subjects and obtained an interview, oral exfoliated cells, and blood from all participants and fresh biopsy specimens from case patients." . _:42e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18988; "oral cavity cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14652239+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited 1670 case patients (1415 with cancer of the oral cavity and 255 with cancer of the oropharynx) and 1732 control subjects and obtained an interview, oral exfoliated cells, and blood from all participants and fresh biopsy specimens from case patients." . _:42e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2363910/fullTextXML"; rdfs:comment "The present Cuban case-control study was part of an international study of oral cancer and HPV carried out in Italy (Talamini et al, 2000), Spain, Northern Ireland, Poland, Canada, India, Sudan and Australia, and coordinated by the International Agency for Research on Cancer (Herrero et al, 2000)." . _:42e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27749845"; "Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer."; "PMID:27749845", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5131845/"; rdfs:comment "In order to confirm array genotypes and imputed dosages, we genotyped at least one SNP within each associated (P < 5x10–7) genomic region using TaqMan assays (Thermo Fisher Scientific) in a subset of approximately 900 individuals from ARCAGE, IARC Latin America, EPIC, and IARC oral cancer studies (Supplementary Table 14)." . _:42e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international hospital-based case–control study of cancer of the oral cavity and oropharynx, coordinated by the International Agency for Research on Cancer in nine countries (Italy, Spain, Northern Ireland, Poland, Canada, India, Sudan, Australia and Cuba), which interviewed its participants and collected oral exfoliated cells and blood from cases and controls, and fresh tumour biopsies from cases, to study the role of human papillomavirus in these cancers. It is one of the studies of the International Head and Neck Cancer Epidemiology Consortium, and participants from its centres in Canada, Italy, Poland and Spain were genotyped for a genome-wide association study of oral cavity and pharyngeal cancer."; "PMID:11437401", "PMID:14652239", "PMID:19190158", "PMID:21437268", "PMID:27749845"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1670; "Participants in the original nine-country IARC oral-cancer study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14652239+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited 1670 case patients (1415 with cancer of the oral cavity and 255 with cancer of the oropharynx) and 1732 control subjects and obtained an interview, oral exfoliated cells, and blood from all participants and fresh biopsy specimens from case patients." . _:42e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1732; "Participants in the original nine-country IARC oral-cancer study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14652239+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We recruited 1670 case patients (1415 with cancer of the oral cavity and 255 with cancer of the oropharynx) and 1732 control subjects and obtained an interview, oral exfoliated cells, and blood from all participants and fresh biopsy specimens from case patients." . _:42ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid18996; , ; "PMID:20360844"; "An ongoing prospective community-based study of out-of-hospital sudden cardiac arrest and sudden cardiac death in the Portland, Oregon metropolitan area (including Multnomah County), United States, running since 2002, which ascertains cases through first responders, emergency medical services, area hospitals and the county medical examiner, reviews their medical records, and compares them with geographically matched controls, including people with coronary artery disease, some of them with blood samples for genetic studies."; 2938; "Ore-SUDS", "Oregon-SUDS", "Oregon-Sudden Unexpected Death Study"; rdfs:label "Oregon Sudden Unexpected Death Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid18996 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid18996; "out-of-hospital cardiac arrest"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4323796/fullTextXML"; rdfs:comment "The Oregon Sudden Unexpected Death Study is a prospective study of out‐of‐hospital cardiac arrest in the Portland, Oregon, metropolitan area (population ≈1 million), ongoing since 2002." . _:42ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845611/fullTextXML"; rdfs:comment "The Oregon Sudden Unexpected Death Study (Oregon-SUDS) is an ongoing, prospective, community-based evaluation of approximately one million residents of the Portland, Oregon metropolitan area [10]." . _:42ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20360844"; "Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest."; "PMID:20360844", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845611/fullTextXML"; rdfs:comment "We used a case-control design within the ongoing Oregon Sudden Unexpected Death Study (Oregon-SUDS)." . _:42ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective community-based study of out-of-hospital sudden cardiac arrest and sudden cardiac death in the Portland, Oregon metropolitan area (including Multnomah County), United States, running since 2002, which ascertains cases through first responders, emergency medical services, area hospitals and the county medical examiner, reviews their medical records, and compares them with geographically matched controls, including people with coronary artery disease, some of them with blood samples for genetic studies."; "PMID:16545646", "PMID:16731473", "PMID:20360844", "PMID:25227407"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2938; "sudden cardiac deaths among adult residents of Multnomah County, Oregon, ascertained February 2004 to January 2016 (the largest count stated; the study's controls are not counted and no total is stated), 2004-2016"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7122833/"; rdfs:comment "From February 2004 through January 2016, there were 2,938 SCDs among Multnomah County, Oregon residents age ≥18 y (average adult population, 572 000)." . _:42f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Ore-SUDS"; . _:42f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Oregon-SUDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19004; , ; ; "PGS000052", "PMID:25855707"; "A hospital-based case-control study of breast cancer in the south-west of the Netherlands, run from Leiden University Medical Centre, whose cases were consecutive patients with invasive or in situ breast cancer diagnosed in 1996–2006 at two hospitals in Leiden and Rotterdam, not selected for family history, and whose controls were healthy blood-bank donors, spouses of members of families at high breast cancer risk, and women tested at the local clinical genetics department for non-cancer conditions; it is a member study of the Breast Cancer Association Consortium."; 357; 327; "LUMCBCS", "ORIGO"; ; rdfs:label "Leiden University Medical Centre Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19004 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19004; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Consecutive case patients diagnosed 1996–2006 in 2 hospitals in South–West Netherlands (Leiden & Rotterdam)." . _:42f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Consecutive case patients diagnosed 1996–2006 in 2 hospitals in South–West Netherlands (Leiden & Rotterdam)." . _:42f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000052"; "Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families."; "PMID:31186341" . _:42f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25855707"; "Prediction of breast cancer risk based on profiling with common genetic variants."; "PMID:25855707", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/fullTextXML"; rdfs:comment "The Leiden University Medical Centre Breast Cancer Study (ORIGO) was supported by the Dutch Cancer Society (RUL 1997-1505) and the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-NL CP16)." . _:42f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in the south-west of the Netherlands, run from Leiden University Medical Centre, whose cases were consecutive patients with invasive or in situ breast cancer diagnosed in 1996–2006 at two hospitals in Leiden and Rotterdam, not selected for family history, and whose controls were healthy blood-bank donors, spouses of members of families at high breast cancer risk, and women tested at the local clinical genetics department for non-cancer conditions; it is a member study of the Breast Cancer Association Consortium."; "PMID:25855707", "PMID:32424353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:42f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 357; "cases and controls genotyped on iCOGS (BCAC); no total stated"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204770/"; rdfs:comment "Leiden University Medical Centre Breast Cancer Study (ORIGO) Netherlands 327 357 211 70" . _:42f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 327; "cases and controls genotyped on iCOGS (BCAC); no total stated"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4204770/"; rdfs:comment "Leiden University Medical Centre Breast Cancer Study (ORIGO) Netherlands 327 357 211 70" . _:42f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LUMCBCS"; . _:42fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORIGO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19014; , ; ; "PGS001778", "PMID:25855707"; "A breast cancer case-control study at The Ohio State University in Columbus, Ohio, whose cases are incident triple-negative breast cancer cases enrolled at the Ohio State University James Comprehensive Cancer Center from 2003 to 2011 and banked in the Stefanie Spielman Breast Bank, and whose controls, recruited from 2007 to 2011 among people seen for routine care at primary care and internal medicine clinics and frequency matched to the cases on age and ethnicity, come from the Columbus Area Control Sample Bank. It took part in the Triple Negative Breast Cancer Consortium and, through it, in Breast Cancer Association Consortium analyses."; 207; 203; "OSU", "OSU study"; ; rdfs:label "The Stefanie Spielman Breast Bank and the Columbus Area Control Sample Bank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19014 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:42fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19014; "triple negative breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "OSU* The Stefanie Spielman Breast Bank and the Columbus Area Control Sample Bank U.S.A. Incident triple negative breast cancer cases enrolled at The Ohio State University James Comprehensive Cancer Center between 2003 and 2011." . _:42fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "OSU* The Stefanie Spielman Breast Bank and the Columbus Area Control Sample Bank U.S.A. Incident triple negative breast cancer cases enrolled at The Ohio State University James Comprehensive Cancer Center between 2003 and 2011." . _:42fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:42fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25855707"; "Prediction of breast cancer risk based on profiling with common genetic variants."; "PMID:25855707", "https://europepmc.org/api/getPdf?pmcid=PMC4754625"; rdfs:comment "The OSU study was funded by the Stefanie Spielman fund and the OSU Comprehensive Cancer Center." . _:42ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer case-control study at The Ohio State University in Columbus, Ohio, whose cases are incident triple-negative breast cancer cases enrolled at the Ohio State University James Comprehensive Cancer Center from 2003 to 2011 and banked in the Stefanie Spielman Breast Bank, and whose controls, recruited from 2007 to 2011 among people seen for routine care at primary care and internal medicine clinics and frequency matched to the cases on age and ethnicity, come from the Columbus Area Control Sample Bank. It took part in the Triple Negative Breast Cancer Consortium and, through it, in Breast Cancer Association Consortium analyses."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 207; "triple-negative breast cancer cases and Columbus-area clinic controls genotyped on the iCOGS array, after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "They were age and ethnicity frequency matched to cases. 207 203" . _:43012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 203; "triple-negative breast cancer cases and Columbus-area clinic controls genotyped on the iCOGS array, after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "They were age and ethnicity frequency matched to cases. 207 203" . _:43022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OSU"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Ohio State University Comprehensive Cancer Centre (OSUCCG) is an institution: the PGS Catalog cohort id is the CIMBA study site of the Ohio State University Comprehensive Cancer Center, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Ohio State University Comprehensive Cancer Centre"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Ohio State University Medical Center (OSUMC) is an institution: the PGS Catalog cohort id is the colorectal cancer consortium’s site label for cases from the Ohio State University Medical Center in the scores of Archambault et al. 2019 and Thomas et al. 2020, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Ohio State University Medical Center"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. OTCC names no study: it is The Ohio State University's thyroid cancer case-control collection used in deCODE genetics' thyroid cancer GWAS, which the papers call only the Ohio study group or the Ohio cohort (PMID:19198613, PMID:22267200). Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Ohio Thyroid Cancer Cohort"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Odense University Hospital (OUH) is an institution: the PGS Catalog cohort id is the CIMBA study site at Odense University Hospital, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Odense University Hospital"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19023, _:genid-371333f489424440b12a13b9d98ced822608-genid19025; , , , ; "PMID:24386199"; "A multicentre, population-based prospective study of risk factors for osteoporotic fracture in which women aged over 55 years (with a group of younger women aged 20 to 39 years) were recruited from random population samples at five European centres (Aberdeen, Berlin, Kiel, Paris and Sheffield) between 1999 and 2001 and followed for about six years, with bone densitometry, quantitative ultrasound of bone, spine radiographs and bone turnover markers."; 2837; "OPUS", "OPUS Study", "OPUS study", "OUSS", "osteoporosis and ultrasound study"; rdfs:label "Osteoporosis and Ultrasound Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19023 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19025 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19023; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3875449/fullTextXML"; rdfs:comment "The Osteoporosis and Ultrasound Study (OPUS) is a multicenter prospective study of risk factors for fractures in post menopausal women." . _:43042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19025; "fractures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3875449/fullTextXML"; rdfs:comment "The Osteoporosis and Ultrasound Study (OPUS) is a multicenter prospective study of risk factors for fractures in post menopausal women." . _:43052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3875449/fullTextXML"; rdfs:comment "Human subjects review or ethics committees at each participating institution (“Ethikkommission der Medizinischen Fakultät der Christian-Albrechts-Universität zu Kiel” for Kiel, “Ethikkommission des Universitätsklinikum Benjamin Franklin der Freien Universität Berlin” for Berlin, “North Sheffield Research Ethics Committee” for Sheffield, “North of Scotland Research Ethics Committee, Grampian Health Board” for Aberdeen and “Comité consultatif de protection des personnes (CCPPRB) Paris-Cochin” for Paris) reviewed and approved the study." . _:43062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24386199"; "FRAX®: prediction of major osteoporotic fractures in women from the general population: the OPUS study."; "PMID:24386199", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3875449/fullTextXML"; rdfs:comment "The OPUS study was conducted in European women aged above 55 years, recruited in 5 centers from random population samples and followed over 6 years." . _:43072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, population-based prospective study of risk factors for osteoporotic fracture in which women aged over 55 years (with a group of younger women aged 20 to 39 years) were recruited from random population samples at five European centres (Aberdeen, Berlin, Kiel, Paris and Sheffield) between 1999 and 2001 and followed for about six years, with bone densitometry, quantitative ultrasound of bone, spine radiographs and bone turnover markers."; "PMID:12854838", "PMID:15068502", "PMID:24386199", "PMID:24480136"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2837; "women of the population-based sample, 463 aged 20-39 and 2374 aged 55-79, measured at baseline in the study's founding analysis of quantitative ultrasound and DXA"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15068502+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared the performance of five QUS devices with DXA in a population-based sample of 2837 women." . _:43092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OPUS"; . _:430a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OUSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19033; , ; ; "PGS000082", "PMID:36688720"; "A population-based case-control study of ovarian cancer in the Canadian provinces of British Columbia and Alberta, running from 2002 to 2012, whose British Columbia cases were identified through the British Columbia Cancer Registry and controls through the provincial health roster, with data collected by self-completed questionnaire from 2002 to 2004 and by interview from 2004 to 2012. It is one of the studies of the Ovarian Cancer Association Consortium."; 1637; 2698; "OVA", "OVAL-BC", "Ovarian Cancer in Alberta and British Columbia"; ; rdfs:label "Ovarian Cancer in Alberta and British Columbia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19033 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:430b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19033; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "OVA Canada Ovarian Cancer in Alberta and British Columbia 2002-2012 Population-based Self-completed questionnaire 2002-2004; interview 2004-2012 56.81 (10.62) 2698 (62.2) 1637 (37.8)" . _:430c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "OVA Ovarian Cancer in Alberta and British Columbia Study (OVAL- BC) Canada Cases diagnosed 2002-2007 identified through the British Columbia Cancer Registry." . _:430d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:430e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36688720"; "Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis."; "PMID:36688720", "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "OVA Canada Ovarian Cancer in Alberta and British Columbia 2002-2012 Population-based Self-completed questionnaire 2002-2004; interview 2004-2012" . _:430f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of ovarian cancer in the Canadian provinces of British Columbia and Alberta, running from 2002 to 2012, whose British Columbia cases were identified through the British Columbia Cancer Registry and controls through the provincial health roster, with data collected by self-completed questionnaire from 2002 to 2004 and by interview from 2004 to 2012. It is one of the studies of the Ovarian Cancer Association Consortium."; "PMID:36688720", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3108163/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1637; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "OVA Canada Ovarian Cancer in Alberta and British Columbia 2002-2012 Population-based Self-completed questionnaire 2002-2004; interview 2004-2012 56.81 (10.62) 2698 (62.2) 1637 (37.8)" . _:43112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2698; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "OVA Canada Ovarian Cancer in Alberta and British Columbia 2002-2012 Population-based Self-completed questionnaire 2002-2004; interview 2004-2012 56.81 (10.62) 2698 (62.2) 1637 (37.8)" . _:43122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OVA"; . _:43132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OVAL-BC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19043; , ; ; "PMID:29029385"; "A gynaecological tissue bank and outcomes unit of British Columbia's Ovarian Cancer Research (OVCARE) program at Vancouver General Hospital and the BC Cancer Agency in Vancouver, Canada, which recruits patients, banks their biospecimens and maintains their clinical data; its ovarian cancer patients take part in the Ovarian Cancer Association Consortium, including its studies of ovarian cancer survival, under the study code VAN."; 143; "OVCARE", "OVCARE Gyneacologic Tissue Bank and Outcomes Unit", "VAN"; rdfs:label "OVCARE Gynecologic Tissue Bank and Outcomes Unit"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19043 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19043; "invasive epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5630285/fullTextXML"; rdfs:comment "Genotype analyses were restricted to invasive epithelial ovarian cancer patients of European ancestry with detailed chemotherapy and clinical follow-up for disease progression and survival following first-line treatment from OCAC and TCGA (Supplementary Table 6)." . _:43152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5630285/supplementaryFiles"; rdfs:comment "VAN (Canada) Patients attending VGH and/or BC Cancer Agency Division of Gynecologic Oncology" . _:43162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29029385"; "Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci."; "PMID:29029385", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5630285/fullTextXML"; rdfs:comment "OVCARE Gynecologic Tissue Bank and Outcomes Unit (VAN) study was funded by BC Cancer Foundation, VGH & UBC Hospital Foundation." . _:43172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A gynaecological tissue bank and outcomes unit of British Columbia's Ovarian Cancer Research (OVCARE) program at Vancouver General Hospital and the BC Cancer Agency in Vancouver, Canada, which recruits patients, banks their biospecimens and maintains their clinical data; its ovarian cancer patients take part in the Ovarian Cancer Association Consortium, including its studies of ovarian cancer survival, under the study code VAN."; "PMID:28346442", "PMID:29029385", "PMID:34162658", "PMID:36368129"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 143; "ovarian cancer patients of the unit with genotype and complete clinical data in the 2017 OCAC survival meta-analysis, any first-line chemotherapy (analysed subset; no size of the tissue bank or outcomes unit is stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5630285/supplementaryFiles"; rdfs:comment "VAN (Canada) Patients attending VGH and/or BC Cancer Agency Division of Gynecologic Oncology Clinical data obtained via medical record review 143 52 143 52" . _:43192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OVCARE"; . _:431a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VAN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19051; , ; "PGS003972", "PMID:37845353"; "A single-centre prospective cohort of patients with abdominal aortic aneurysm managed on the routine NHS pathway at the Oxford University Hospitals NHS Trust in England, followed with repeated measurements of aneurysm diameter to study the pathogenesis and growth of aneurysms and biomarkers of their progression such as flow-mediated dilatation."; 162; "Multimodal Assessment of Aortic Aneurysm Disease Pathogenesis", "OxAAA"; ; rdfs:label "Oxford Abdominal Aortic Aneurysm Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19051 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:431b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19051; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6033055/fullTextXML"; rdfs:comment "The Oxford Abdominal Aortic Aneurysm Study (OxAAA) prospectively recruited AAA patients undergoing the routine NHS management pathway." . _:431c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; rdfs:comment "Additional AAA case cohorts from Oxford (UK), Uppsala (Sweden) and Utrecht (Netherlands) became available during the conduct of the study." . _:431d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003972"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353" . _:431e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37845353"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; rdfs:comment "All participants in UKAGS, UppsalaAAA, OxAAA and VIVA were genotyped using the UK Biobank Axiom Array." . _:431f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre prospective cohort of patients with abdominal aortic aneurysm managed on the routine NHS pathway at the Oxford University Hospitals NHS Trust in England, followed with repeated measurements of aneurysm diameter to study the pathogenesis and growth of aneurysms and biomarkers of their progression such as flow-mediated dilatation."; "PMID:28416190", "PMID:29988820", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 162; "patients with abdominal aortic aneurysm recruited from October 2013, as reported in 2017"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5496669/fullTextXML"; rdfs:comment "From October 2013, 162 patients with AAAs were recruited (147 men, 15 women)." . _:43212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OxAAA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19059; , , , , ; ; "PMID:21151130"; "A United Kingdom-based international genetic study of endometriosis, run from the University of Oxford, that from 1995 to 2006 recruited women with surgically confirmed endometriosis, both families with two or more affected sisters and single cases, through collaborating clinicians in Britain, Ireland and the United States, advertisements and its website, to identify susceptibility genes by linkage analysis and positional cloning; with the Australian Genes Behind Endometriosis Study it forms the International Endogene Study."; 1030; "OXEGENE", "OXEGENE study", "Oxford Endometriosis Gene", "Oxford Endometriosis Gene study"; rdfs:label "Oxford Endometriosis Gene Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19059 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19059; "endometriosis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.731/MediaObjects/41588_2011_BFng731_MOESM17_ESM.pdf"; rdfs:comment "From 1995-2006, the Oxford Endometriosis Gene (OXEGENE) study, Oxford, UK, recruited 245 families with ≥2 affected sisters with surgically confirmed endometriosis, and 785 single cases." . _:43232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2939902/"; rdfs:comment "In brief, women were identified from the clinic databases of collaborating clinicians in Britain, Ireland, and the United States, or through advertisements, by the OXEGENE website, or research centers throughout the world." . _:43242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21151130"; "Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis."; "PMID:21151130", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3019124/unicode"; rdfs:comment "For the current study, 2,351 surgically-confirmed endometriosis cases were drawn from individuals recruited by The Queensland Institute of Medical Research (QIMR) and a further 1,030 cases from individuals recruited by the Oxford Endometriosis Gene (OXEGENE) study." . _:43252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United Kingdom-based international genetic study of endometriosis, run from the University of Oxford, that from 1995 to 2006 recruited women with surgically confirmed endometriosis, both families with two or more affected sisters and single cases, through collaborating clinicians in Britain, Ireland and the United States, advertisements and its website, to identify susceptibility genes by linkage analysis and positional cloning; with the Australian Genes Behind Endometriosis Study it forms the International Endogene Study."; "PMID:10206402", "PMID:16080113", "PMID:17498711", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.731/MediaObjects/41588_2011_BFng731_MOESM17_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1030; "women with surgically confirmed endometriosis recruited by the study and drawn into the 2011 endometriosis GWAS (1995-2006)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3019124/unicode"; rdfs:comment "For the current study, 2,351 surgically-confirmed endometriosis cases were drawn from individuals recruited by The Queensland Institute of Medical Research (QIMR) and a further 1,030 cases from individuals recruited by the Oxford Endometriosis Gene (OXEGENE) study." . _:43272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OXEGENE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19066; , ; "PGS000021", "PMID:26577414"; "A cross-sectional cohort of white European adults from Devon and Cornwall in South West England who were diagnosed with diabetes between the ages of 20 and 40 and had had it for more than three years, excluding known monogenic and secondary diabetes, assembled by researchers at the University of Exeter to test whether a type 1 diabetes genetic risk score predicts progression to severe insulin deficiency (continuous insulin treatment within three years of diagnosis with low C-peptide)."; 223; "P2ID", "Progression to Insulin Deficiency: South West England Cohort", "South West UK cohort"; ; rdfs:label "Progression to insulin deficiency: South West England cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19066 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19066; "diabetes"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5642867/unicode"; rdfs:comment "We assessed a cross-sectional cohort of people diagnosed with diabetes between the ages of 20 and 40 years (n=223), who had diabetes for more than 3 years and self-reported as white European, from Devon and Cornwall in South West England." . _:43292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5642867/unicode"; rdfs:comment "We assessed a cross-sectional cohort of people diagnosed with diabetes between the ages of 20 and 40 years (n=223), who had diabetes for more than 3 years and self-reported as white European, from Devon and Cornwall in South West England." . _:432a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000021"; "A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults."; "PMID:26577414" . _:432b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26577414"; "A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults."; "PMID:26577414", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5642867/unicode"; rdfs:comment "Characteristics of the South West UK cohort are shown in Table 1; 21% (46/223) of these individuals were severely insulin deficient (Supplementary Figure 1, Table 1)." . _:432c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional cohort of white European adults from Devon and Cornwall in South West England who were diagnosed with diabetes between the ages of 20 and 40 and had had it for more than three years, excluding known monogenic and secondary diabetes, assembled by researchers at the University of Exeter to test whether a type 1 diabetes genetic risk score predicts progression to severe insulin deficiency (continuous insulin treatment within three years of diagnosis with low C-peptide)."; "PMID:26577414"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:432d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 223; "people with diabetes diagnosed at 20-40 years assessed in the cross-sectional cohort"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5642867/unicode"; rdfs:comment "We assessed a cross-sectional cohort of people diagnosed with diabetes between the ages of 20 and 40 years (n=223), who had diabetes for more than 3 years and self-reported as white European, from Devon and Cornwall in South West England." . _:432e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "P2ID"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19074; , ; , ; "PGS000083", "PMID:25086665"; "A case-control study of pancreatic cancer among members of two US health plans, Group Health in the Seattle Puget Sound area of Washington and Kaiser Permanente Northern California. It is one of the case-control studies of the Pancreatic Cancer Case-Control Consortium (PanC4) whose samples were genotyped in the PanScan genome-wide association studies."; 1209; 874; "PACIFIC", "PACIFIC Study", "PACIFIC Study of Group Health and Northern California Kaiser Permanente", "Pacific Study", "Pancreatic Cancer Investigation: Finding Causes", "Pancreatic Cancer: Investigation into Finding Causes"; ; rdfs:label "Pancreatic Cancer: Investigation into Finding Causes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19074 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:432f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19074; "pancreatic cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3808252/"; rdfs:comment "The Pancreatic Cancer: Investigation into Finding Causes (PACIFIC) Study is a case-control study of pancreatic cancer based in the defined populations of two large health plans (Group Health Cooperative (GHC) in Seattle, WA and Kaiser Permanente Northern California, (KPNC))." . _:43302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3052/MediaObjects/41588_2014_BFng3052_MOESM19_ESM.pdf"; rdfs:comment "PACIFIC Study 246 241 Seattle, WA and Northern California, USA Group Health (Seattle Pufet Sound) and Kaiser Permanente" . _:43312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000083"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:43322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25086665"; "Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer."; "PMID:25086665", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3052/MediaObjects/41588_2014_BFng3052_MOESM19_ESM.pdf"; rdfs:comment "The PACIFIC study was supported by grant R01 CA102765 from the National Cancer Institute." . _:43332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of pancreatic cancer among members of two US health plans, Group Health in the Seattle Puget Sound area of Washington and Kaiser Permanente Northern California. It is one of the case-control studies of the Pancreatic Cancer Case-Control Consortium (PanC4) whose samples were genotyped in the PanScan genome-wide association studies."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3052/MediaObjects/41588_2014_BFng3052_MOESM19_ESM.pdf", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000206.v5.p3"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1209; "pancreatic cancer cases identified as eligible (July/August 2005 to December 2009; 531 of them died before interview) and controls enrolled (2005-2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3808252/" . _:43352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 874; "pancreatic cancer cases identified as eligible (July/August 2005 to December 2009; 531 of them died before interview) and controls enrolled (2005-2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3808252/" . _:43362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PACIFIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19083; , , ; "PGS005388", "PMID:42081549"; "A multicentre case-control study of paroxysmal atrial fibrillation in Japan, whose cases with paroxysmal atrial fibrillation and unrelated controls with no history of atrial fibrillation, all Japanese inpatients and outpatients of the cardiology departments of seven hospitals (among them Tokyo Medical and Dental University Hospital and Jichi Medical University Hospital), were enrolled from March 2020 to December 2021 and genotyped for a genome-wide association study and polygenic risk scores of paroxysmal atrial fibrillation."; 1038; 744; 2604; "PAF_JPN"; ; rdfs:label "Multicenter Japanese paroxysmal atrial fibrillation case-control cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19083 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19083; "paroxysmal atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13138623/fullTextXML"; rdfs:comment "Finally, 1,782 participants (1,038 PAF cases and 744 controls) were included in the GWAS and PRS analyses." . _:43382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005388"; "Genetic variants and polygenic risk scores associated with paroxysmal atrial fibrillation in the Japanese population."; "PMID:42081549" . _:43392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42081549"; "Genetic variants and polygenic risk scores associated with paroxysmal atrial fibrillation in the Japanese population."; "PMID:42081549", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13138623/fullTextXML"; rdfs:comment "In total, 2,604 participants were enrolled between March 1, 2020 and December 31, 2021, including inpatients and outpatients from the Department of Cardiology of Tokyo Medical and Dental University Hospital, Jichi Medical University Hospital, Yokohama City Minato Red Cross Hospital, Jichi Medical University Saitama Medical Center, Yokosuka Kyosai Hospital, National Hospital Organization Disaster Medical Center, and Tsuchiura Kyodo General Hospital." . _:433a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study of paroxysmal atrial fibrillation in Japan, whose cases with paroxysmal atrial fibrillation and unrelated controls with no history of atrial fibrillation, all Japanese inpatients and outpatients of the cardiology departments of seven hospitals (among them Tokyo Medical and Dental University Hospital and Jichi Medical University Hospital), were enrolled from March 2020 to December 2021 and genotyped for a genome-wide association study and polygenic risk scores of paroxysmal atrial fibrillation."; "PMID:42081549"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:433b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1038; "2604 enrolled; 1038 PAF cases and 744 controls in the final GWAS analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13138623/fullTextXML"; rdfs:comment "Finally, 1,782 participants (1,038 PAF cases and 744 controls) were included in the GWAS and PRS analyses." . _:433c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 744; "2604 enrolled; 1038 PAF cases and 744 controls in the final GWAS analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13138623/fullTextXML"; rdfs:comment "Finally, 1,782 participants (1,038 PAF cases and 744 controls) were included in the GWAS and PRS analyses." . _:433d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2604; "2604 enrolled; 1038 PAF cases and 744 controls in the final GWAS analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13138623/fullTextXML"; rdfs:comment "In total, 2,604 participants were enrolled between March 1, 2020 and December 31, 2021, including inpatients and outpatients from the Department of Cardiology of Tokyo Medical and Dental University Hospital, Jichi Medical University Hospital, Yokohama City Minato Red Cross Hospital, Jichi Medical University Saitama Medical Center, Yokosuka Kyosai Hospital, National Hospital Organization Disaster Medical Center, and Tsuchiura Kyodo General Hospital." . _:433e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAF_JPN"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: Borderline: the PAH cases are a defined collection (histopathologically confirmed invasive primary melanoma, 1994–2007, recruited at the hospital's Multidisciplinary Melanoma Clinic and related clinics, with its own funding and 'cohort management'), but no source gives it a name other than the hospital's ('PAH', 'the PAH dataset'). If the curator prefers to treat it like the Melanoma Institute Australia cohort (COHO:0001103), which comes from the same paper, it would need a descriptive label such as 'Princess Alexandra Hospital melanoma case series', which no source uses. PAH is the PGS Catalog's id for Princess Alexandra Hospital, Brisbane, Australia, as the source of 236 unrelated melanoma cases recruited at its Multidisciplinary Melanoma Clinic (primary melanoma confirmed 1994–2007) and genotyped with the Melanoma Institute Australia cases for melanoma GWAS and PRS work (PMID:32716505, 32341527). The papers call this sample only 'PAH' or 'the PAH dataset'; it has no study name, so the id denotes a hospital's case series, not a named cohort. It is not the Melanoma Institute Australia cohort (COHO:0001103), a separate Sydney collection, nor the Queensland Study of Melanoma (COHO:0001031) or the old Queensland Melanoma Project registry. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Princess Alexandra Hospital"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19092, _:genid-371333f489424440b12a13b9d98ced822608-genid19094, _:genid-371333f489424440b12a13b9d98ced822608-genid19096; , , , , , ; "PGS002264", "PMID:27579533"; "A case-control consortium of basic and clinical research groups that pools biological samples and data from patients with pancreatic adenocarcinoma and other pancreatic diseases (endocrine pancreatic tumours, chronic pancreatitis) and from healthy controls, collected mainly in European countries and also in Brazil and Japan, to find genetic factors for pancreatic cancer risk, response to treatment and survival."; 2220; 3847; "PANDORA", "PANDORA Consortium", "PANDoRA", "PANDoRA consortium", "PANcreatic Disease ReseArch", "PANcreatic Disease ReseArch (PANDoRA) consortium", "Pancreatic disease research consortium"; ; rdfs:label "PANcreatic Disease ReseArch consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19092 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19094 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19096 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:433f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19092; "chronic pancreatitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23206934+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "So far 2220 cases of pancreatic adenocarcinoma, a smaller number of cases of endocrine pancreatic tumours (n=86), chronic pancreatitis (n=272) and 3847 healthy controls have been collected." . _:43402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19094; "endocrine pancreatic tumours"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23206934+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "So far 2220 cases of pancreatic adenocarcinoma, a smaller number of cases of endocrine pancreatic tumours (n=86), chronic pancreatitis (n=272) and 3847 healthy controls have been collected." . _:43412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19096; "pancreatic adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23206934+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "So far 2220 cases of pancreatic adenocarcinoma, a smaller number of cases of endocrine pancreatic tumours (n=86), chronic pancreatitis (n=272) and 3847 healthy controls have been collected." . _:43422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37164172+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "PANDoRA is spread across 12 European countries, Brazil and Japan, bringing together 29 basic and clinical research groups." . _:43432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002264"; "Predicting Pancreatic Cancer in the UK Biobank Cohort Using Polygenic Risk Scores and Diabetes Mellitus."; "PMID:35065983" . _:43442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27579533"; "Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21."; "PMID:27579533", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5340084/fullTextXML"; rdfs:comment "In the first replication stage, we genotyped 15 promising variants in 1,912 pancreatic cancer cases and 3,763 control subjects from the PANcreatic Disease ReseArch (PANDoRA) consortium, a case-control consortium including studies from eight European countries [18]." . _:43452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control consortium of basic and clinical research groups that pools biological samples and data from patients with pancreatic adenocarcinoma and other pancreatic diseases (endocrine pancreatic tumours, chronic pancreatitis) and from healthy controls, collected mainly in European countries and also in Brazil and Japan, to find genetic factors for pancreatic cancer risk, response to treatment and survival."; "PMID:23206934", "PMID:37164172"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2220; "PANDoRA pancreatic-adenocarcinoma cases and healthy controls collected by its 2012 profile"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23206934+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "So far 2220 cases of pancreatic adenocarcinoma, a smaller number of cases of endocrine pancreatic tumours (n=86), chronic pancreatitis (n=272) and 3847 healthy controls have been collected." . _:43472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3847; "PANDoRA pancreatic-adenocarcinoma cases and healthy controls collected by its 2012 profile"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23206934+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "So far 2220 cases of pancreatic adenocarcinoma, a smaller number of cases of endocrine pancreatic tumours (n=86), chronic pancreatitis (n=272) and 3847 healthy controls have been collected." . _:43482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANDORA"; . _:43492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANDoRA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19106, _:genid-371333f489424440b12a13b9d98ced822608-genid19108, _:genid-371333f489424440b12a13b9d98ced822608-genid19110; , ; "PGS000083", "PMID:25086665"; "A multicentre prospective hospital-based study of patients with pancreatic and biliary diseases, among them incident cases of exocrine pancreatic cancer, recruited from 1992 to 1995 at five general university hospitals in eastern Spain and followed for survival, to study the role of KRAS mutations and other genetic alterations, and of environmental exposures such as persistent organic pollutants and trace elements, in the diagnosis, prognosis and aetiology of pancreatic cancer."; 185; 602; "PANKRAS II", "PANKRAS II Study", "PANKRAS-II", "PANKRASII", "Spanish Pancreatic Cancer Study"; ; rdfs:label "Multicentre Prospective Study on the Role of KRAS and other Genetic Alterations in the Diagnosis, Prognosis and Etiology of Pancreatic Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19106 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19108 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19110 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:434a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19106; "pancreatic ductal adenocarcinoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/"; rdfs:comment "Briefly, subject recruitment took place between 1992 and 1995 at five general university hospitals in eastern Spain, where 602 patients with biliopancreatic diseases, including 185 incident cases of PDAC, were prospectively identified." . _:434b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19108; "trace elements"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/"; rdfs:comment "Therefore, the present study aimed to investigate the individual and combined effects of these three factors on the survival of patients with PDAC.2." . _:434c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19110; "persistent organic pollutants"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/"; rdfs:comment "Therefore, the present study aimed to investigate the individual and combined effects of these three factors on the survival of patients with PDAC.2." . _:434d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/"; rdfs:comment "Briefly, subject recruitment took place between 1992 and 1995 at five general university hospitals in eastern Spain, where 602 patients with biliopancreatic diseases, including 185 incident cases of PDAC, were prospectively identified." . _:434e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000083"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:434f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25086665"; "Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer."; "PMID:25086665", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4191666/"; rdfs:comment "The new case-based studies were the Gastrointestinal Cancer Clinic of Dana-Farber Cancer Institute (DFCI-GCC), Spanish Pancreatic Cancer Study PANKRAS-II59, and PANDoRA-Heidelberg pancreatic cancer case-control study10." . _:43502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective hospital-based study of patients with pancreatic and biliary diseases, among them incident cases of exocrine pancreatic cancer, recruited from 1992 to 1995 at five general university hospitals in eastern Spain and followed for survival, to study the role of KRAS mutations and other genetic alterations, and of environmental exposures such as persistent organic pollutants and trace elements, in the diagnosis, prognosis and aetiology of pancreatic cancer."; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17636417%20AND%20SRC:MED&format=json&resultType=core"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 185; "PANKRAS-II biliopancreatic patients and its incident PDAC case arm"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/"; rdfs:comment "Briefly, subject recruitment took place between 1992 and 1995 at five general university hospitals in eastern Spain, where 602 patients with biliopancreatic diseases, including 185 incident cases of PDAC, were prospectively identified." . _:43522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 602; "PANKRAS-II biliopancreatic patients and its incident PDAC case arm"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7689512/"; rdfs:comment "Briefly, subject recruitment took place between 1992 and 1995 at five general university hospitals in eastern Spain, where 602 patients with biliopancreatic diseases, including 185 incident cases of PDAC, were prospectively identified." . _:43532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANKRAS II"; . _:43542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANKRAS-II"; . _:43552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PANKRASII"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19121; , ; , ; ; "PGS005170", "PMID:25898129"; "A pharmacogenomic study of the response to statins that combines two clinical populations of white adults in the United States given a statin for a fixed period: participants of the Cholesterol and Atherosclerosis Pharmacogenetics (CAP) study, recruited at two clinical sites in Los Angeles and San Francisco and treated with simvastatin for six weeks, and participants of the Pravastatin Inflammation CRP Evaluation (PRINCE) trial, enrolled at sites across the country and treated with pravastatin for twelve weeks."; 1939; "PARC", "Pharmacogenomics and Risk of Cardiovascular Disease", "Pharmacogenomics and Risk of Cardiovascular Disease study"; ; rdfs:label "Pharmacogenomics and Risk of Cardiovascular Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19121 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19121; "cardiovascular disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "They were recruited for having an LDL-cholesterol concentration ≥3.5 mmol/L (>135 mg/dL) or a history of myocardial infarction, stroke, or coronary revascularization regardless of their baseline LDL-cholesterol." . _:43572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "The first was derived from the Cholesterol Atherosclerosis Pharmacogenetics (CAP) Study." . _:43582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "derived from the Pravastatin Inflammation CRP Evaluation (PRINCE)." . _:43592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "CAP subjects were recruited from two clinical sites located in Los Angeles and San Francisco, California." . _:435a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005170"; "Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification."; "PMID:40042447" . _:435b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25898129"; "A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians."; "PMID:25898129", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25898129+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a genome-wide association analysis of 7 subfractions of low density lipoproteins (LDLs) and 3 subfractions of intermediate density lipoproteins (IDLs) measured by gradient gel electrophoresis, and their response to statin treatment, in 1868 individuals of European ancestry from the Pharmacogenomics and Risk of Cardiovascular Disease study." . _:435c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pharmacogenomic study of the response to statins that combines two clinical populations of white adults in the United States given a statin for a fixed period: participants of the Cholesterol and Atherosclerosis Pharmacogenetics (CAP) study, recruited at two clinical sites in Los Angeles and San Francisco and treated with simvastatin for six weeks, and participants of the Pravastatin Inflammation CRP Evaluation (PRINCE) trial, enrolled at sites across the country and treated with pravastatin for twelve weeks."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:435d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1939; "PARC combined CAP/PRINCE individuals available for the 2010 genetic analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature09270/MediaObjects/41586_2010_BFnature09270_MOESM283_ESM.pdf"; rdfs:comment "A total of 1,939 individuals were available for analysis." . _:435e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PARC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19131, _:genid-371333f489424440b12a13b9d98ced822608-genid19133, _:genid-371333f489424440b12a13b9d98ced822608-genid19135; , ; "PMID:21912625"; "A case-control study of Parkinson's disease nested in the NIH-AARP Diet and Health Study, the prospective cohort established by the National Cancer Institute in 1995–1996, whose cases are cohort members who reported Parkinson's disease in the cohort's 2004–2006 follow-up survey and were confirmed by their treating physicians or by medical record review, and whose controls are randomly selected cohort members who did not report Parkinson's disease, frequency-matched to the cases on year of birth, sex and ethnicity, with DNA collected from saliva."; "The acronym PAGE also denotes Psoriasis Association Genetics Extension (COHO:0000145), Placental Abruption Genetic Epidemiology study (COHO:0001268) and Population Architecture using Genomics and Epidemiology Study (COHO:0002752); this term is Parkinson's, Genes, and Environment Study."@en; 838; 1703; "PAGE", "ParGE", "Parkinson's Genes and Environment Study", "Parkinson's, Genes and Environment study", "Parkinson's, Genes, and Environment", "Parkinson, Genes, and Environment", "Parkinsons, Genes and Environment"; rdfs:label "Parkinson's, Genes, and Environment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19131 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19133 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19135 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:435f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19131; "Parkinson's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3172377/unicode"; rdfs:comment "Potential PD patients in this cohort were first identified from self-reports in its follow-up survey in 2004–2006, and then were confirmed either by their treating physicians or by medical record review." . _:43602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19133; "caffeine intake"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3121544/"; rdfs:comment "Our study is among the largest population-based studies on PD with both genetic and environmental data." . _:43612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19135; "smoking"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3121544/"; rdfs:comment "Our study is among the largest population-based studies on PD with both genetic and environmental data." . _:43622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3158052/fullTextXML"; rdfs:comment "Cases and controls were all unrelated, non-Hispanic Caucasian, from United States." . _:43632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21912625"; "An exploratory study on CLU, CR1 and PICALM and Parkinson disease."; "PMID:21912625", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3166161/fullTextXML"; rdfs:comment "PD cases and controls were from the Parkinson's, Genes, and Environment (PAGE) study that was nested within the large prospective cohort: the National Institute of Health (NIH)-AARP Diet and Health Study cohort (Formerly known as American Association of Retired Persons." . _:43642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of Parkinson's disease nested in the NIH-AARP Diet and Health Study, the prospective cohort established by the National Cancer Institute in 1995–1996, whose cases are cohort members who reported Parkinson's disease in the cohort's 2004–2006 follow-up survey and were confirmed by their treating physicians or by medical record review, and whose controls are randomly selected cohort members who did not report Parkinson's disease, frequency-matched to the cases on year of birth, sex and ethnicity, with DNA collected from saliva."; "PMID:21741729", "PMID:21912625"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 838; "physician-confirmed Parkinson's disease cases and controls genotyped"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3172377/unicode"; rdfs:comment "In total, 838 of physician-confirmed PD cases and 1,703 controls were genotyped." . _:43662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1703; "physician-confirmed Parkinson's disease cases and controls genotyped"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3172377/unicode"; rdfs:comment "In total, 838 of physician-confirmed PD cases and 1,703 controls were genotyped." . _:43672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGE"; . _:43682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ParGE"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The catalog name is a mis-encoded 'Groupe hospitalier Pitié-Salpêtrière, Paris' (diacritics split in a PDF copy). Many genetic studies recruit at this hospital group (Tourette syndrome, Parkinson's disease, CJD, BRCA carriers in GEMO, and others), so without the paper the Catalog took the id from, the sample cannot be pinned down. Paris is the PGS Catalog's id for 'Groupe hospitalier Pitié-Salpêtrière Paris', a Paris hospital group (the Catalog's spelling is garbled). The Catalog lists the id in its cohort table but attaches it to no score or sample set, so there is no sample for it to denote, and no paper found by name uses a study sample so called. It is an institution name, not a cohort (the same judgement as Trinity, E1123). No COHO term matches it, and it should not be made a synonym of any French cohort in COHO. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Groupe hospitalier Pitié-Salpêtrière Paris"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19144; , ; "PGS000777", "PMID:33958783"; "A population-based longitudinal study of the incidence, neurobiology and prognosis of Parkinson’s disease in Norway, which recruited incident, untreated patients with Parkinson’s disease and control participants and follows them with a standardised examination programme; its patients contribute to genetic studies of Parkinson’s disease progression."; 212; 205; "ParkWest", "Parkwest"; ; rdfs:label "Norwegian ParkWest Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19144 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19144; "Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5302042/fullTextXML"; rdfs:comment "All participants were derived from the Norwegian ParkWest project, a population-based longitudinal study of the incidence, neurobiology and prognosis of PD." . _:436a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-021-00847-6/MediaObjects/41588_2021_847_MOESM1_ESM.pdf"; rdfs:comment "ParkWest (Norway) Dementia was defined using operationalized level 1 MDS dementia criteria24 ." . _:436b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:436c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33958783"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8459648/"; rdfs:comment "HBS, Arizona Study of Aging/Brain and Body Donation Program, NET-PD LS1, CamPaIGN, PICNICS, DIGPD, PDBP, PIB, ParkWest, PROPARK and PROPARK-C cohorts comprised the discovery population and DATATOP, PPMI, PreCEPT and Tartu the replication population." . _:436d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal study of the incidence, neurobiology and prognosis of Parkinson’s disease in Norway, which recruited incident, untreated patients with Parkinson’s disease and control participants and follows them with a standardised examination programme; its patients contribute to genetic studies of Parkinson’s disease progression."; "PMID:19020293", "PMID:19246476", "PMID:27911342", "PMID:33958783"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:436e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 212; "incident Parkinson's disease patients and controls enrolled 2004-2006; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9098431/fullTextXML"; rdfs:comment "In total, 212 incident PD cases and 205 controls assented to engage in the ParkWest study." . _:436f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 205; "incident Parkinson's disease patients and controls enrolled 2004-2006; no total stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9098431/fullTextXML"; rdfs:comment "In total, 212 incident PD cases and 205 controls assented to engage in the ParkWest study." . _:43702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ParkWest"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19153; , , ; "PMID:22999729"; "An observational cohort of people aged 80 years or older living in 72 nursing homes in France and Italy, recruited between January 2006 and June 2008 by four French and two Italian university hospital centres and followed for two years, to determine how well blood pressure and arterial stiffness predict mortality and major cardiovascular events in very old institutionalised people."; 1126; "PARTAGE", "PARTAGE study", "Predictive Values of Blood Pressure and Arterial Stiffness in Institutionalized Very Aged Population", "Predictive Values of Blood Pressure and Arterial Stiffness in Institutionalized Very Aged Population (PARTAGE) Study"; rdfs:label "Predictive Values of Blood Pressure and Arterial Stiffness in Institutionalized Very Aged Population Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19153 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19153; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22999729+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the longitudinal PARTAGE study was to determine the predictive value of blood pressure (BP) and pulse pressure amplification, a marker of arterial function, for overall mortality (primary endpoint) and major cardiovascular (CV) events, in subjects older than 80 years of age living in a nursing home." . _:43722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12746773/fullTextXML"; rdfs:comment "Participants were recruited by 4 French (Nancy, Dijon, Paris, and Toulouse) and 2 Italian (Cesena and Verona) university hospital centers between January 2006 and June 2008." . _:43732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22999729"; "Mortality and cardiovascular events are best predicted by low central/peripheral pulse pressure amplification but not by high blood pressure levels in elderly nursing home subjects: the PARTAGE (Predictive Values of Blood Pressure and Arterial Stiffness in Institutionalized Very Aged Population) study."; "PMID:22999729", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22999729+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aim of the longitudinal PARTAGE study was to determine the predictive value of blood pressure (BP) and pulse pressure amplification, a marker of arterial function, for overall mortality (primary endpoint) and major cardiovascular (CV) events, in subjects older than 80 years of age living in a nursing home." . _:43742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational cohort of people aged 80 years or older living in 72 nursing homes in France and Italy, recruited between January 2006 and June 2008 by four French and two Italian university hospital centres and followed for two years, to determine how well blood pressure and arterial stiffness predict mortality and major cardiovascular events in very old institutionalised people."; "PMID:22999729", "PMID:41307346"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1126; "nursing-home residents aged 80+ enrolled"; "PMID:22999729"; rdfs:comment "A total of 1,126 subjects (874 women) who were living in French and Italian nursing homes were enrolled (mean age, 88 ± 5 years)." . _:43762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PARTAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19160; , , ; "PGS000742", "PMID:33623038"; "A multi-institutional prospective cohort and biorepository of men with clinically localized prostate cancer managed by active surveillance, enrolled from 2008 at clinical sites in the United States and Canada and followed under a protocol of regular prostate-specific antigen tests and surveillance biopsies, supported by the Canary Foundation to discover and confirm biomarkers that distinguish aggressive from indolent disease."; 2155; "Canary PASS", "PASS", "Prostate Active Surveillance Study"; ; rdfs:label "Canary Prostate Active Surveillance Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19160 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19160; "clinically localized prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11821537/fullTextXML"; rdfs:comment "Between 2008 and 2017, Canary PASS prospectively enrolled 1,455 patients with clinically localized prostate cancer (cT1-cT2 and Gleason Grade 1–2) to undergo AS at 1 of 10 national sites81." . _:43782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3827723/"; rdfs:comment "The Canary Prostate Active Surveillance Study (PASS) is a multicenter, prospective active surveillance study that is currently enrolling participants at Stanford University, University of California at San Francisco, University of British Columbia, University of Washington, and University of Texas Health Science Center at San Antonio." . _:43792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "Canary PASS (n=373) Prostate Active Surveillance Study USA Prospective, observational" . _:437a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:437b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "Canary PASS (n=373) Prostate Active Surveillance Study USA Prospective, observational" . _:437c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-institutional prospective cohort and biorepository of men with clinically localized prostate cancer managed by active surveillance, enrolled from 2008 at clinical sites in the United States and Canada and followed under a protocol of regular prostate-specific antigen tests and surveillance biopsies, supported by the Canary Foundation to discover and confirm biomarkers that distinguish aggressive from indolent disease."; "PMID:19758683", "PMID:36343223", "PMID:39930085"; "GPT-6 (OpenAI), 2026-09" . _:437d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2155; "Canary PASS cohort enrolled through August 2022 (2008–2022)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11140579/"; rdfs:comment "A cohort of 2155 men with favorable-risk prostate cancer and no prior treatment were enrolled at 10 North American centers through August 2022." . _:437e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PASS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19169, _:genid-371333f489424440b12a13b9d98ced822608-genid19171, _:genid-371333f489424440b12a13b9d98ced822608-genid19173; , ; "PGS004611", "PMID:37188791"; "A prospective cohort of women aged 21 or older newly diagnosed with invasive breast cancer at Kaiser Permanente Northern California, in the United States, recruited from January 2006 within two months of diagnosis, interviewed and sampled for blood and saliva at baseline and followed for recurrence and survival, to study how lifestyle and molecular factors affect breast cancer prognosis."; 4505; "Pathways", "Pathways study"; ; rdfs:label "Pathways Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19169 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19171 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19173 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:437f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19169; "invasive breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2581640/"; rdfs:comment "Eligibility includes any woman diagnosed with invasive breast cancer within KPNC, no previous diagnosis of other invasive cancer, age 21 years or older, and ability to speak English, Spanish, Cantonese, or Mandarin." . _:43802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19171; "diet"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2581640/"; rdfs:comment "The aim of one such study, the Pathways Study, is to examine the effect on recurrence and survival of 1) lifestyle factors such as diet, physical activity, quality of life, and use of complementary and alternative medicine (CAM) and 2) molecular factors such as genetic polymorphisms involved in metabolism of chemotherapeutic agents." . _:43812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19173; "physical activity"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2581640/"; rdfs:comment "The aim of one such study, the Pathways Study, is to examine the effect on recurrence and survival of 1) lifestyle factors such as diet, physical activity, quality of life, and use of complementary and alternative medicine (CAM) and 2) molecular factors such as genetic polymorphisms involved in metabolism of chemotherapeutic agents." . _:43822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10185660/fullTextXML"; rdfs:comment "Whereas UK Biobank is a population-wide biobanking initiative, Pathways is a breast cancer-specific study that recruited consecutive cases from a single healthcare system in the U.S." . _:43832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004611"; "Development and testing of a polygenic risk score for breast cancer aggressiveness."; "PMID:37188791" . _:43842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37188791"; "Development and testing of a polygenic risk score for breast cancer aggressiveness."; "PMID:37188791", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10185660/fullTextXML"; rdfs:comment "The Pathways Study is a longitudinal cohort of women diagnosed with breast cancer at Kaiser Permanente Northern California." . _:43852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of women aged 21 or older newly diagnosed with invasive breast cancer at Kaiser Permanente Northern California, in the United States, recruited from January 2006 within two months of diagnosis, interviewed and sampled for blood and saliva at baseline and followed for recurrence and survival, to study how lifestyle and molecular factors affect breast cancer prognosis."; "PMID:18478338"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4505; "women newly diagnosed with invasive breast cancer enrolled 2006-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10799916/fullTextXML"; rdfs:comment "The Pathways Study is a prospective cohort of 4,505 women newly diagnosed with invasive breast cancer enrolled between 2006 and 2013 in Kaiser Permanente Northern California (KPNC)" . _:43872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pathways"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19181; , ; ; "PGS000733", "PMID:24037755"; "A population-based, case-only study of African American and European American men aged 40 to 79 with newly diagnosed prostate cancer in North Carolina and Louisiana, United States, who were interviewed at home and gave blood, adipose tissue, urine and toenail samples, with medical records and tumour tissue reviewed, to investigate the social, individual and tumour-level causes of racial differences in prostate cancer aggressiveness."; 2258; "NC-LA PCaP", "North Carolina - Louisiana Prostate Cancer Project", "North Carolina-Louisiana Prostate Cancer Project Consortium", "North Carolina-Louisiana Prostate Cancer Study", "PCaP"; ; rdfs:label "North Carolina-Louisiana Prostate Cancer Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19181 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19181; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11377453/fullTextXML"; rdfs:comment "PCaP is a population-based cohort of incident prostate cancer cases from North Carolina (NC) and Louisiana (LA) collected from 2004 to 2009 designed to examine prostate cancer populations from two states with variable prostate cancer incidence and study the racial disparities associated with the disease." . _:43892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3934014/unicode"; rdfs:comment "PCaP recruited 1130 black/ AA CaP cases between 40 and79 years of age with newly diagnosed, histologically-confirmed, adenocarcinoma of the prostate from North Carolina (NC) and Louisiana (LA)." . _:438a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:438b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24037755"; "Admixture mapping of prostate cancer in African Americans participating in the North Carolina-Louisiana Prostate Cancer Project (PCaP)."; "PMID:24037755", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3934014/unicode"; rdfs:comment "1130 AA CaP cases enrolled in the North Carolina-Louisiana Prostate Cancer Project (PCaP) were genotyped using a 1,509 AIM SNP panel." . _:438c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, case-only study of African American and European American men aged 40 to 79 with newly diagnosed prostate cancer in North Carolina and Louisiana, United States, who were interviewed at home and gave blood, adipose tissue, urine and toenail samples, with medical records and tumour tissue reviewed, to investigate the social, individual and tumour-level causes of racial differences in prostate cancer aggressiveness."; "PMID:16676364", "PMID:24037755"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:438d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2258; "eligible PCaP participants enrolled in the population-based incident-case cohort (2004–2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11377453/fullTextXML"; rdfs:comment "A total of 2,258 eligible participants aged 40–79 years were enrolled in PCaP." . _:438e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NC-LA PCaP"; . _:438f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCaP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19190; , ; "PGS000751", "PMID:22402288"; "A nationwide population-based case-control study of prostate cancer in Barbados, West Indies, whose cases were male citizens with newly diagnosed, histologically confirmed prostate cancer identified from July 2002 to January 2011 and whose controls were age-matched residents randomly selected from a national database, designed to evaluate genetic and epidemiologic contributors to prostate cancer in this Afro-Caribbean population."; 1007; 1005; "PCBP"; ; rdfs:label "Prostate Cancer in a Black Population"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19190 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19190; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3551989/"; rdfs:comment "The PCBP study is a nationwide case-control study conducted in Barbados, West Indies between July, 2002 and January, 2011." . _:43912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22936456+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Prostate Cancer in a Black Population (PCBP) study is a large, nationwide case-control study conducted in Barbados, West Indies from 2002 to 2011." . _:43922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:43932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22402288"; "Central adiposity and Prostate Cancer in a Black Population."; "PMID:22402288", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22402288+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This report includes 963 newly diagnosed cases of histologically confirmed prostate cancer and 941 randomly selected age-matched controls ascertained from the population-based Prostate Cancer in a Black Population study conducted between July 2002 and January 2011 in Barbados, West Indies." . _:43942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based case-control study of prostate cancer in Barbados, West Indies, whose cases were male citizens with newly diagnosed, histologically confirmed prostate cancer identified from July 2002 to January 2011 and whose controls were age-matched residents randomly selected from a national database, designed to evaluate genetic and epidemiologic contributors to prostate cancer in this Afro-Caribbean population."; "PMID:22936456", "PMID:24399209"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1007; "all PCBP consenting case and control participants, 2002–2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3551989/"; rdfs:comment "A total of 1,007 PC cases and 1,005 controls consented and participated in the PCBP, of which 963 cases and 941 controls self-reported their race as African-Barbadian." . _:43962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1005; "all PCBP consenting case and control participants, 2002–2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3551989/"; rdfs:comment "A total of 1,007 PC cases and 1,005 controls consented and participated in the PCBP, of which 963 cases and 941 controls self-reported their race as African-Barbadian." . _:43972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCBP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19199; , ; ; "PGS000741", "PMID:33623038"; "A hospital-based case–control study of prostate cancer in Sofia, Bulgaria, run by the Medical University of Sofia, whose cases are patients of the Clinic of Urology of Alexandrovska University Hospital with histopathologically confirmed prostate cancer and whose controls are patients with benign prostatic hyperplasia and low PSA and healthy men from the MMC Biobank; it contributes genotyped cases and controls to the PRACTICAL consortium."; 192; 89; 281; "PCMUS", "Prostate Cancer Study Medical University Sofia"; ; rdfs:label "Prostate Cancer study Medical University Sofia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19199; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "PCMUS Prostate Cancer study Medical University Sofia Sofia Bulgaria Case-control - Sofia, Bulgaria Radka Kaneva, Vanio Mitev, Chavdar Slavov European 195 90 192 89 Patients of Clinic of Urology, Alexandrovska University Hospital, Sofia, Bulgaria, PrCa histopathologically confirmed" . _:43992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "PCMUS (n=281) Prostate Cancer Study Medical University Sofia Sofia, Bulgaria Case-control" . _:439a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:439b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "PCMUS (n=281) Prostate Cancer Study Medical University Sofia Sofia, Bulgaria Case-control" . _:439c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of prostate cancer in Sofia, Bulgaria, run by the Medical University of Sofia, whose cases are patients of the Clinic of Urology of Alexandrovska University Hospital with histopathologically confirmed prostate cancer and whose controls are patients with benign prostatic hyperplasia and low PSA and healthy men from the MMC Biobank; it contributes genotyped cases and controls to the PRACTICAL consortium."; "PMID:26387087", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:439d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 192; "OncoArray-genotyped cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PCMUS (n=281) Prostate Cancer Study Medical University Sofia Sofia, Bulgaria Case-control 89 192" . _:439e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 89; "OncoArray-genotyped cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PCMUS (n=281) Prostate Cancer Study Medical University Sofia Sofia, Bulgaria Case-control 89 192" . _:439f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 281; "OncoArray-genotyped cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PCMUS (n=281) Prostate Cancer Study Medical University Sofia Sofia, Bulgaria Case-control 89 192" . _:43a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCMUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19209; , , ; , ; "PGS000733", "PMID:37264206"; "A phase 3 randomised, double-blind, placebo-controlled trial, administered through the Southwest Oncology Group, in which generally healthy men aged 55 or older with a normal digital rectal examination and a PSA level of 3 ng/mL or less, recruited at sites across the United States and Canada from 1994 to 1997, were assigned to finasteride (5 mg a day) or placebo for seven years and offered an end-of-study prostate biopsy, to test whether finasteride prevents prostate cancer."; 18882; "PCPT", "SWOG-PCPT"; ; rdfs:label "Prostate Cancer Prevention Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19209 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19209; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3058741/"; rdfs:comment "The foundation of this risk-modeling program, the PCPT, was designed to establish whether finasteride, a 5α-reductase type II inhibitor, prevents prostate cancer." . _:43a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3058741/"; rdfs:comment "Between 1994 and 1997, 18,882 men from 210 study sites located throughout the United States and Canada were randomized in the PCPT to either the finasteride or placebo arm and followed yearly with a digital rectal exam (DRE) and PSA determination." . _:43a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:43a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37264206"; "Genetically adjusted PSA levels for prostate cancer screening."; "PMID:37264206", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10287565/fullTextXML"; rdfs:comment "The PCPT is a completed phase 3 randomized, double-blind, placebo-controlled trial of finasteride for prostate cancer prevention that began in 1993 (ref. 8)." . _:43a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A phase 3 randomised, double-blind, placebo-controlled trial, administered through the Southwest Oncology Group, in which generally healthy men aged 55 or older with a normal digital rectal examination and a PSA level of 3 ng/mL or less, recruited at sites across the United States and Canada from 1994 to 1997, were assigned to finasteride (5 mg a day) or placebo for seven years and offered an end-of-study prostate biopsy, to test whether finasteride prevents prostate cancer."; "PMID:21149329", "PMID:21667068", "PMID:22810146"; "GPT-6 (OpenAI), 2026-09" . _:43a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18882; "men randomized in PCPT (1994–1997)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3058741/"; rdfs:comment "Between 1994 and 1997, 18,882 men from 210 study sites located throughout the United States and Canada were randomized in the PCPT to either the finasteride or placebo arm and followed yearly with a digital rectal exam (DRE) and PSA determination." . _:43a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PCPT"; . _:43a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWOG-PCPT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19218; , ; "PGS000667", "PMID:37409455"; "A multi-institutional autopsy study, sponsored by the US National Heart, Lung, and Blood Institute, in which fifteen cooperating centres in eight US communities used standardised procedures to collect arteries, blood and other tissues from black and white males and females aged 15 to 34 who died of external causes (accidents, homicides and suicides) and were autopsied between 1987 and 1994, to relate established coronary heart disease risk factors to the extent of atherosclerotic lesions in youth."; 3013; "PDAY"; ; rdfs:label "Pathobiological Determinants of Atherosclerosis in Youth"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19218 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19218; "atherosclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272499/"; rdfs:comment "The Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study is a bi-racial investigation of the development and progression of atherosclerosis involving 3013 individuals aged 15–34 who underwent autopsy within 48 h following death from external causes including accidents, homicides, and suicide [9]." . _:43aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10052443+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Pathobiological Determinants of Atherosclerosis in Youth Study, a multi-institutional autopsy study conducted in US medical centers." . _:43ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000667"; "Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults."; "PMID:37409455" . _:43ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37409455"; "Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults."; "PMID:37409455", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10581412/unicode"; rdfs:comment "We assessed whether contemporary polygenic scores (PGSs) for coronary artery disease (CAD) or for risk factors of CAD can predict the presence of raised coronary plaque among adolescents and young adults examined in the PDAY study (Pathobiological Determinants of Atherosclerosis in Youth) involving 15 laboratories that conducted autopsies on 2876 people aged 15 to 34 years dying of external causes between 1987 and 1994." . _:43ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-institutional autopsy study, sponsored by the US National Heart, Lung, and Blood Institute, in which fifteen cooperating centres in eight US communities used standardised procedures to collect arteries, blood and other tissues from black and white males and females aged 15 to 34 who died of external causes (accidents, homicides and suicides) and were autopsied between 1987 and 1994, to relate established coronary heart disease risk factors to the extent of atherosclerotic lesions in youth."; "PMID:10052443", "PMID:22015179", "PMID:27861582"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3013; "Individuals in the PDAY autopsy study described in the 2011 profile"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3272499/"; rdfs:comment "The Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study is a bi-racial investigation of the development and progression of atherosclerosis involving 3013 individuals aged 15–34 who underwent autopsy within 48 h following death from external causes including accidents, homicides, and suicide [9]." . _:43af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PDAY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19226; , ; "PMID:23408064"; "A French network for the study of Parkinson's disease genetics, associating university hospitals across France, through which patients with Parkinson's disease of European origin, including early-onset index cases, and some healthy controls are recruited for genetic studies, with samples prepared by the DNA and cell bank of the CRicm in Paris."; 1031; 128; "French Parkinson disease Genetics Study Group", "French network for the study of Parkinson disease genetics", "French network for the study of Parkinson's disease genetics", "PDG", "Study of Parkinsons disease Genetics"; rdfs:label "French Parkinson's Disease Genetics Study Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19226 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19226; "Parkinson's disease"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3646288/unicode"; rdfs:comment "Subjects with PD (n=1031) were recruited through the French network for the study of Parkinson's disease genetics associating 15 university hospitals across France." . _:43b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3646288/"; rdfs:comment "Subjects with PD (n=1031) were recruited through the French network for the study of Parkinson's disease genetics associating 15 university hospitals across France." . _:43b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23408064"; "The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism."; "PMID:23408064", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3646288/"; rdfs:comment "Subjects with PD (n=1031) were recruited through the French network for the study of Parkinson's disease genetics associating 15 university hospitals across France." . _:43b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French network for the study of Parkinson's disease genetics, associating university hospitals across France, through which patients with Parkinson's disease of European origin, including early-onset index cases, and some healthy controls are recruited for genetic studies, with samples prepared by the DNA and cell bank of the CRicm in Paris."; "PMID:20598272", "PMID:23408064", "PMID:27066548", "PMID:33841314"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1031; "Parkinson's disease patients and healthy controls recruited through the network for the French sample of the 2013 COMT study (analysed subset)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3646288/unicode" . _:43b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 128; "Parkinson's disease patients and healthy controls recruited through the network for the French sample of the 2013 COMT study (analysed subset)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3646288/unicode" . _:43b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PDG"; . a owl:NamedIndividual, ; , ; "PMID:28724990"; "A longitudinal, prospective, population-based cohort of young-adult women from Malmö, Sweden, who were invited in 1999–2004 at the age of 25 (excluding women pregnant then or in the previous 12 months) and invited again about ten years later at age 35, set up to explore the genetic, clinical and lifestyle factors associated with attaining peak bone mass and with later changes in bone mass, with bone density and body composition measured by DXA."; 1047; "PEAK 25", "PEAK Bone Mass 25 study", "PEAK25", "PEAK25 Swedish Study", "Peak-25"; rdfs:label "PEAK-25"@en . _:43b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685719/fullTextXML"; rdfs:comment "Briefly, during 1999-2004, 25-yr-old women from Malmö, Sweden, were invited to participate." . _:43b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28724990"; "Large meta-analysis of genome-wide association studies identifies five loci for lean body mass."; "PMID:28724990", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5517526/fullTextXML"; rdfs:comment "De-novo replication genotyping was done using: KBioScience Allele-Specific Polymorphism (KASP) SNP genotyping system (in OPRA, PEAK25, AGES, CAIFOS, DOPS cohorts), TaqMan (METSIM), Illumina OmniExpress + Illumina Metabochip (PIVUS and ULSAM), or Sequenom’s iPLEX (WHI) (Supplementary Table 8)." . _:43b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal, prospective, population-based cohort of young-adult women from Malmö, Sweden, who were invited in 1999–2004 at the age of 25 (excluding women pregnant then or in the previous 12 months) and invited again about ten years later at age 35, set up to explore the genetic, clinical and lifestyle factors associated with attaining peak bone mass and with later changes in bone mass, with bone density and body composition measured by DXA."; "PMID:40581742", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-017-00031-7/MediaObjects/41467_2017_31_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1047; "25-year-old women included at baseline in Malmö, 1999-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12685719/fullTextXML"; rdfs:comment "The final number at inclusion was 1047 women (exclusions due to 102 who were pregnant, 3 who were outside age limit, 2 did not attend, and 12 were missing data) (Figure 1)." . _:43bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEAK 25"; . _:43bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEAK25"; . _:43bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Peak-25"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19241; , ; ; "PMID:24096698"; "A population-based case-control study of endometrial cancer, the endometrial component of the US National Cancer Institute's Polish Cancer Study, that in 2001–2003 enrolled women aged 20–74 years in Warsaw and Łódź, Poland: cases with incident, pathologically confirmed endometrial cancer identified through a rapid hospital-based identification system and cancer registries, and controls selected from the Polish Electronic System and frequency-matched on site and age, all interviewed in person and giving blood samples."; 551; 1925; "PECS", "Polish Endometrial Cancer study"; rdfs:label "Polish Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19241 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19241; "endometrial cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3431573/"; rdfs:comment "Eligible cases were diagnosed with incident pathologically confirmed endometrial cancer." . _:43bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3431573/"; rdfs:comment "Our study subjects were derived from the Polish Endometrial Cancer Study, a large, population-based, endometrial case-control study (18) conducted among women residing in two Polish cities, Warsaw and Lodz, from 2001 to 2003." . _:43c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24096698"; "Genome-wide association study of endometrial cancer in E2C2."; "PMID:24096698", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898362/fullTextXML"; rdfs:comment "Seven participating studies, including four cohort [California Teacher’s Study (CTS), Nurses’ Health Study (NHS), Multiethnic Cohort (MEC), Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO)] and three case–control studies [Connecticut Endometrial Cancer (CONN), Fred Hutchinson Cancer Research Center (FHCRC), Polish Endometrial Cancer Study (PECS)], were genotyped in Stage 1 (2,695 cases, 2,777 controls)." . _:43c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of endometrial cancer, the endometrial component of the US National Cancer Institute's Polish Cancer Study, that in 2001–2003 enrolled women aged 20–74 years in Warsaw and Łódź, Poland: cases with incident, pathologically confirmed endometrial cancer identified through a rapid hospital-based identification system and cancer registries, and controls selected from the Polish Electronic System and frequency-matched on site and age, all interviewed in person and giving blood samples."; "PMID:22730518", "PMID:24096698", "PMID:41094331"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 551; "PECS cases and controls interviewed in the original 2001-2003 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3431573/"; rdfs:comment "In total, 551 of 695 eligible cases (79.3%) and 1925 of 2843 eligible controls (67.7%) were interviewed about demographic factors, reproductive history, exogenous hormone use, lifetime body size and physical activity, and medical history." . _:43c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1925; "PECS cases and controls interviewed in the original 2001-2003 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3431573/"; rdfs:comment "In total, 551 of 695 eligible cases (79.3%) and 1925 of 2843 eligible controls (67.7%) were interviewed about demographic factors, reproductive history, exogenous hormone use, lifetime body size and physical activity, and medical history." . _:43c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19249; "PGS000016", "PMID:35980763"; "A multinational, randomised, double-blind, placebo-controlled trial that recruited patients with a spontaneous myocardial infarction one to three years earlier and additional risk factors from October 2010 to April 2013 and assigned them to ticagrelor 90 mg or 60 mg twice daily or matching placebo, all on low-dose aspirin, to test whether long-term ticagrelor reduces cardiovascular death, myocardial infarction or stroke."; "The acronym PEGASUS also denotes Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (COHO:0001219); this term is Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin-Thrombolysis in Myocardial Infarction 54."@en; 21162; "PEGASUS", "PEGASUS-TIMI", "PEGASUS-TIMI 54", "PEGASUS-TIMI_54", "Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin", "Prevention of Cardiovascular Events in Patients with Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin", "Prevention of Cardiovascular Events in Patients with Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin-Thrombolysis In Myocardial Infarction 54"; ; rdfs:label "Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin-Thrombolysis in Myocardial Infarction 54"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19249 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19249; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25773268+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned, in a double-blind 1:1:1 fashion, 21,162 patients who had had a myocardial infarction 1 to 3 years earlier to ticagrelor at a dose of 90 mg twice daily, ticagrelor at a dose of 60 mg twice daily, or placebo." . _:43c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000016"; "A polygenic risk score predicts atrial fibrillation in cardiovascular disease."; "PMID:35980763" . _:43c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35980763"; "A polygenic risk score predicts atrial fibrillation in cardiovascular disease."; "PMID:35980763", "https://europepmc.org/api/getPdf?pmcid=PMC10310983"; rdfs:comment "We performed a genetic cohort study pooling individual patient-level data from four cardiovascular clinical trials: SOLID-TIMI 52 (Stabilization of Plaques Using Darapladib),15 SAVOR-TIMI 53 (Saxagliptin Assessment of Vascular Outcomes Recorded in Patients with Diabetes Mellitus),16 PEGASUS-TIMI 54 (Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin),17 and FOURIER (TIMI 59) (Further Cardiovascular Outcomes Research With PCSK9 Inhibition in Subjects With Elevated Risk).18" . _:43c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multinational, randomised, double-blind, placebo-controlled trial that recruited patients with a spontaneous myocardial infarction one to three years earlier and additional risk factors from October 2010 to April 2013 and assigned them to ticagrelor 90 mg or 60 mg twice daily or matching placebo, all on low-dose aspirin, to test whether long-term ticagrelor reduces cardiovascular death, myocardial infarction or stroke."; "PMID:24655690"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 21162; "PEGASUS-TIMI 54 randomized prior-MI patients (2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25773268+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned, in a double-blind 1:1:1 fashion, 21,162 patients who had had a myocardial infarction 1 to 3 years earlier to ticagrelor at a dose of 90 mg twice daily, ticagrelor at a dose of 60 mg twice daily, or placebo." . _:43ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS"; . _:43cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS-TIMI"; . _:43cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS-TIMI 54"; . _:43cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGASUS-TIMI_54"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. PEGASUS-TIMI_54 is the PEGASUS-TIMI 54 trial of ticagrelor after myocardial infarction, pooled with other TIMI trials in the papers the PGS Catalog records the id in (PMID:33185476, PMID:36474045, PMID:41419686). Replaced by COHO:0002246 (Prevention of Cardiovascular Events in Patients with Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete PEGASUS-TIMI 54"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19259; , ; "PGS000317", "PMID:36925912"; "A hospital-based cohort of women diagnosed with invasive breast cancer in 2010 or later at ages 21 to 79 and recruited at the Instituto Nacional de Enfermedades Neoplásicas (INEN) in Lima, Peru, who complete a standardised survey and give a blood sample for genotyping, with tumour subtypes from pathology at INEN, used to study genetic ancestry and other factors in breast cancer among Peruvian women."; 1943; 1943; "PEGEN-BC", "Peruvian Genetics and Genomics of Breast Cancer", "Peruvian Genetics and Genomics of Breast Cancer Study"; ; rdfs:label "Peru Genetics and Genomics of Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19259 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19259; "invasive breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10013058/fullTextXML"; rdfs:comment "Women were invited to participate if they had a diagnosis of invasive breast cancer in 2010 or later and were between 21 and 79 years of age when diagnosed." . _:43cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10013058/fullTextXML"; rdfs:comment "As of April 2022, we have recruited 1,943 participants from the INEN in Lima, Peru." . _:43d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000317"; "A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women."; "PMID:31553449" . _:43d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36925912"; "Breast cancer subtype and clinical characteristics in women from Peru."; "PMID:36925912", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10013058/fullTextXML"; rdfs:comment "The PEGEN-BC study is a hospital-based breast cancer cohort that includes 1943 patients diagnosed at the Instituto Nacional de Enfermedades Neoplásicas in Lima, Peru." . _:43d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of women diagnosed with invasive breast cancer in 2010 or later at ages 21 to 79 and recruited at the Instituto Nacional de Enfermedades Neoplásicas (INEN) in Lima, Peru, who complete a standardised survey and give a blood sample for genotyping, with tumour subtypes from pathology at INEN, used to study genetic ancestry and other factors in breast cancer among Peruvian women."; "PMID:36925912"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1943; "PEGEN-BC breast-cancer patients recruited by April 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10013058/fullTextXML"; rdfs:comment "The PEGEN-BC study is a hospital-based breast cancer cohort that includes 1943 patients diagnosed at the Instituto Nacional de Enfermedades Neoplásicas in Lima, Peru." . _:43d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1943; "PEGEN-BC breast-cancer patients recruited by April 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10013058/fullTextXML"; rdfs:comment "As of April 2022, we have recruited 1,943 participants from the INEN in Lima, Peru." . _:43d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGEN-BC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19268, _:genid-371333f489424440b12a13b9d98ced822608-genid19270; , ; "PMID:30787307"; "A population-based study run by the Institute for Immunological Research of the University of Cartagena, Colombia, to identify environmental and genetic risk factors for asthma and allergies, which recruited unrelated people with asthma, diagnosed by GINA criteria with a standardised questionnaire and confirmed by a study physician from the clinical history and reversible airway obstruction on lung function testing, and unrelated controls without a personal or family history of asthma or allergies from the Social Security Clinic and outpatient health centres in Cartagena from 2002 to 2005, together with nuclear and extended families recruited through asthmatic probands. It is one of the asthma genetics studies of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)."; 836; 574; "PGCA"; rdfs:label "Proyecto Genes Candidatos en Asma"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19268 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19270 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19268; "asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms12522/MediaObjects/41467_2016_BFncomms12522_MOESM1276_ESM.pdf"; rdfs:comment "A total of 836 unrelated asthma cases and 574 non-asthmatic controls were recruited from the Social Security Clinic and outpatient health centers in Cartagena from 2002 to 2005." . _:43d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19270; "environmental risk factors"; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Proyecto Genes Candidatos en Asma (PGCA) study is a population-based study conducted by the Institute for Immunological Research of The University of Cartagena (Colombia) to identify environmental and genetic risk factors for asthma and allergies [16, 19, 21, 22]." . _:43d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; rdfs:comment "The Proyecto Genes Candidatos en Asma (PGCA) study is a population-based study conducted by the Institute for Immunological Research of The University of Cartagena (Colombia) to identify environmental and genetic risk factors for asthma and allergies [16, 19, 21, 22]." . _:43d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30787307"; "Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations."; "PMID:30787307", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6382865/fullTextXML"; rdfs:comment "While this association was observed in multiple African American samples, the strongest effects were observed in three non-U.S. studies from Barbados (BAGS), Cartagena, Colombia (PGCA), and Puerto Rico (GALA II; Supplementary Fig. 15)." . _:43da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study run by the Institute for Immunological Research of the University of Cartagena, Colombia, to identify environmental and genetic risk factors for asthma and allergies, which recruited unrelated people with asthma, diagnosed by GINA criteria with a standardised questionnaire and confirmed by a study physician from the clinical history and reversible airway obstruction on lung function testing, and unrelated controls without a personal or family history of asthma or allergies from the Social Security Clinic and outpatient health centres in Cartagena from 2002 to 2005, together with nuclear and extended families recruited through asthmatic probands. It is one of the asthma genetics studies of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA)."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms12522/MediaObjects/41467_2016_BFncomms12522_MOESM1276_ESM.pdf", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-019-08469-7/MediaObjects/41467_2019_8469_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 836; "unrelated asthma cases and non-asthmatic controls recruited in Cartagena, 2002-2005 (the families recruited through asthmatic probands are not counted)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms12522/MediaObjects/41467_2016_BFncomms12522_MOESM1276_ESM.pdf"; rdfs:comment "A total of 836 unrelated asthma cases and 574 non-asthmatic controls were recruited from the Social Security Clinic and outpatient health centers in Cartagena from 2002 to 2005." . _:43dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 574; "unrelated asthma cases and non-asthmatic controls recruited in Cartagena, 2002-2005 (the families recruited through asthmatic probands are not counted)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms12522/MediaObjects/41467_2016_BFncomms12522_MOESM1276_ESM.pdf"; rdfs:comment "A total of 836 unrelated asthma cases and 574 non-asthmatic controls were recruited from the Social Security Clinic and outpatient health centers in Cartagena from 2002 to 2005." . _:43dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGCA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19278; , ; "PGS001774", "PMID:25064009"; "A genome-wide association sample of familial Parkinson's disease that combines unrelated cases, one per multiplex family, from two familial Parkinson's disease studies, PROGENI and GenePD, diagnosed by modified UK Parkinson's Disease Society Brain Bank criteria and primarily Caucasian and non-Hispanic, with Caucasian non-Hispanic controls without neurological disease from the NINDS repository at the Coriell Institute, genotyped at the Center for Inherited Disease Research to find genetic risk factors for Parkinson's disease."; 857; 867; 1724; "CIDR: Genome Wide Association Study in Familial Parkinson Disease (PD)", "GenePD-PROGENI", "PGPD", "PROGENI-GenePD", "PROGENI/GenePD"; ; rdfs:label "Genome Wide Association Study in Familial Parkinson Disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19278 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19278; "familial Parkinson disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18985386+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Unlike previous studies that focused primarily on sporadic PD, we have performed the first genomewide association study (GWAS) in familial PD." . _:43df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2758866/fullTextXML"; rdfs:comment "One PD case (n = 935) from each family recruited from two ongoing studies of familial PD, the GenePD study and the PROGENI study, was selected for the GWAS." . _:43e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2758866/fullTextXML"; rdfs:comment "One PD case (n = 935) from each family recruited from two ongoing studies of familial PD, the GenePD study and the PROGENI study, was selected for the GWAS." . _:43e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001774"; "Prediction of Parkinson's Disease Risk Based on Genetic Profile and Established Risk Factors."; "PMID:34440451" . _:43e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25064009"; "Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease."; "PMID:25064009", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4146673/fullTextXML"; rdfs:comment "For each locus identified as genome-wide significant in the discovery phase, we reran cohort level analyses in a subset of 7 datasets with the largest counts of cases (due to primary data availability at the participant level, only IPDGC-NIA, IPDGC-NL, IPDGC-GE, 23&Me, PROGENI-GenePD, NGRC and HIHG were included) testing all SNPs within +/− 1MB from the 26 genome-wide significant SNPs in Table 1, while adjusting for the SNP with the most extreme p-value per locus." . _:43e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association sample of familial Parkinson's disease that combines unrelated cases, one per multiplex family, from two familial Parkinson's disease studies, PROGENI and GenePD, diagnosed by modified UK Parkinson's Disease Society Brain Bank criteria and primarily Caucasian and non-Hispanic, with Caucasian non-Hispanic controls without neurological disease from the NINDS repository at the Coriell Institute, genotyped at the Center for Inherited Disease Research to find genetic risk factors for Parkinson's disease."; "PMID:18985386", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000126.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 857; "familial Parkinson's disease cases and NINDS repository controls in the final GWAS analysis sample (2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2627511/"; rdfs:comment "The final sample used in analyses included 857 PD cases and 867 controls (n = 1,724 individuals)." . _:43e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 867; "familial Parkinson's disease cases and NINDS repository controls in the final GWAS analysis sample (2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2627511/"; rdfs:comment "The final sample used in analyses included 857 PD cases and 867 controls (n = 1,724 individuals)." . _:43e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1724; "familial Parkinson's disease cases and NINDS repository controls in the final GWAS analysis sample (2009)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2627511/"; rdfs:comment "The final sample used in analyses included 857 PD cases and 867 controls (n = 1,724 individuals)." . _:43e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenePD-PROGENI"; . _:43e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGPD"; . _:43e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGENI-GenePD"; . _:43ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGENI/GenePD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19292; , ; "PMID:35356681"; "A UK multicentre prospective observational cohort of patients hospitalised with a non-ST elevation acute coronary syndrome (non-ST elevation myocardial infarction or unstable angina), run at 16 hospital sites between 2008 and 2013, whose participants were followed up at one and 12 months, and annually thereafter while the study ran, for further cardiovascular events; its medication, adherence, plasma drug-level and genome-wide genotype data are used in pharmacogenetic studies of secondary-prevention cardiovascular drugs."; 1470; "PhACS", "Pharmacogenetics of Acute Coronary Syndrome study"; rdfs:label "Pharmacogenetics of Acute Coronary Syndrome"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19292 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19292; "non-ST elevation acute coronary syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7687685/fullTextXML"; rdfs:comment "Briefly, PhACS was a UK 16-site prospective observational study between 2008 and 2013 that recruited 1470 patients hospitalised with an NSTE-ACS." . _:43ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5399750/fullTextXML"; rdfs:comment "This investigation utilizes a prospective CVD observational study that was conducted at 16 different UK hospital sites between 2008 and 2013, entitled the Pharmacogenetics of Acute Coronary Syndrome (PhACS) study." . _:43ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35356681"; "Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol."; "PMID:35356681", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8958266/fullTextXML"; rdfs:comment "Two separate cohorts of patients were used to achieve these aims: PK were determined in a cohort of patients with NSTE-ACS in the Pharmacogenetics of Acute Coronary Syndrome (PhACS) study,6,7 while the PD parameter was determined in an independent cohort from the Genetics of Drug Responsiveness in Essential Hypertension (GENRES) study.8" . _:43ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK multicentre prospective observational cohort of patients hospitalised with a non-ST elevation acute coronary syndrome (non-ST elevation myocardial infarction or unstable angina), run at 16 hospital sites between 2008 and 2013, whose participants were followed up at one and 12 months, and annually thereafter while the study ran, for further cardiovascular events; its medication, adherence, plasma drug-level and genome-wide genotype data are used in pharmacogenetic studies of secondary-prevention cardiovascular drugs."; "PMID:28391887", "PMID:30005242", "PMID:31656041", "PMID:33234119"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1470; "PhACS patients recruited at 16 UK sites, 2008-2013"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7687685/fullTextXML"; rdfs:comment "Briefly, PhACS was a UK 16-site prospective observational study between 2008 and 2013 that recruited 1470 patients hospitalised with an NSTE-ACS." . _:43f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PhACS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19299; , , , ; ; ; "PGS000758", "PMID:21977987"; "A genome-wide association study within the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER), a trial of pravastatin in men and women aged 70 to 82 screened in Scotland, Ireland and the Netherlands from 1997 to 1999, in which the trial's participants were genotyped genome-wide to find the genetic variation responsible for individual differences in response to pravastatin; it was funded by the European Union's Seventh Framework Programme."; 5244; "PHASE", "PHArmacogenetic study of Statin in the Elderly at risk", "PHArmacogenomic study of Statins in the Elderly at risk for CHD", "PHArmacogenomic study of Statins in the Elderly at risk for cardiovascular disease", "PROSPER/PHASE"; ; rdfs:label "PHArmacogenetic study of Statins in the Elderly at risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19299 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19299; "vascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3207930/fullTextXML"; rdfs:comment "Men and women aged 70-82 years were recruited if they had pre-existing vascular disease or were at increased risk of such disease because of smoking, hypertension, or diabetes." . _:43f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3207930/fullTextXML"; rdfs:comment "Between December 1997 and May 1999, we screened and enrolled subjects in Scotland, Ireland, and the Netherlands." . _:43f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3207930/fullTextXML"; rdfs:comment "The PHArmacogenetic study of Statins in the Elderly at risk (PHASE) is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER) that investigates the genetic variation responsible for the individual variation in drug response to pravastatin." . _:43f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000758"; "A Polygenic Risk Score to Predict Future Adult Short Stature Among Children."; "PMID:33788949" . _:43f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21977987"; "Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses."; "PMID:21977987", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3207930/fullTextXML"; rdfs:comment "With the GWAS in the PROSPER/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels." . _:43f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study within the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER), a trial of pravastatin in men and women aged 70 to 82 screened in Scotland, Ireland and the Netherlands from 1997 to 1999, in which the trial's participants were genotyped genome-wide to find the genetic variation responsible for individual differences in response to pravastatin; it was funded by the European Union's Seventh Framework Programme."; "PMID:21977987"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5244; "PROSPER participants with genome-wide genotypes passing quality control"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3207930/fullTextXML"; rdfs:comment "After a stringent quality control 557,192 SNPs in 5,244 subjects were available for analysis." . _:43f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHASE"; . _:43f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROSPER/PHASE"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. PHBB is the Mass General Brigham Biobank's contribution to the COVID-19 Host Genetics Initiative, drawn from the biobank's own participants (PMID:36013271). The Catalog's name is that of the COVID-19 analysis and is not carried over. Replaced by COHO:0000383 (Mass General Brigham Biobank), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Mass General Brigham - Host Vulnerability to COVID-19"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Pirkanmaa Hospital District (PHD) is the Finnish health-care district around Tampere, not a study. The PGS Catalog id is its label for 2283 clinically diagnosed prostate cancer cases from the district's hospital (Tampere University Hospital) in PMID:33051487 (E895.4, Table 1 'Clinical cases (Pirkanmaa Hospital)'), used with FinRSPC cases and controls in a PRS evaluation; the paper gives the case series no study name or recruitment design of its own. The FinRSPC part is a separate id. Other papers found by the name use the district only as a place. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Pirkanmaa Hospital District"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19309; , ; "PMID:25087078"; "A case–control collection of people with epilepsy and controls of African-American and European-American ancestry, assembled in Philadelphia, Pennsylvania, United States, with approval from the review boards of Thomas Jefferson University Hospital, the Children's Hospital of Philadelphia, the University of Pennsylvania and other centres in the United States and Canada, genotyped on Illumina arrays and contributed to the genome-wide association meta-analyses of the ILAE Consortium on Complex Epilepsies."; "The acronym CHoP also denotes Center for Applied Genomics Biobank (COHO:0000489); this term is Philadelphia Cohort."@en; 1734; 9337; "CHOP", "CHoP", "Philadelphia", "Philadelphia cohort"; rdfs:label "Philadelphia Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19309 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:43fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19309; "epilepsy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25087078+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We combined genome-wide association data from 12 cohorts of individuals with epilepsy and controls from population-based datasets." . _:43fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4189926/unicode"; rdfs:comment "We did a meta-analysis of data from 12 previously published or unpublished genetic cohort studies from EPICURE, EPIGEN, Philadelphia (PA, USA), the Imperial-Liverpool-Melbourne Collaboration, GenEpa, and Hong Kong (China) (appendix)." . _:43fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25087078"; "Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies."; "PMID:25087078", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4189926/unicode"; rdfs:comment "We did a meta-analysis of data from 12 previously published or unpublished genetic cohort studies from EPICURE, EPIGEN, Philadelphia (PA, USA), the Imperial-Liverpool-Melbourne Collaboration, GenEpa, and Hong Kong (China) (appendix)." . _:43fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control collection of people with epilepsy and controls of African-American and European-American ancestry, assembled in Philadelphia, Pennsylvania, United States, with approval from the review boards of Thomas Jefferson University Hospital, the Children's Hospital of Philadelphia, the University of Pennsylvania and other centres in the United States and Canada, genotyped on Illumina arrays and contributed to the genome-wide association meta-analyses of the ILAE Consortium on Complex Epilepsies."; "PMID:25087078", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-018-07524-z/MediaObjects/41467_2018_7524_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:43fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1734; "people with epilepsy (cases) and controls in the ILAE 2018 mega-analysis, after quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-018-07524-z/MediaObjects/41467_2018_7524_MOESM1_ESM.pdf"; rdfs:comment "Philadelphia Cohort US (Afr&Cauc) Case 1,734 Illumina 550, Omni- Express Thomas Jefferson University Hospital Philadelphia PA USA; The Children’s Hospital of Philadelphia, Philadelphia PA USA; The University of Pensylvania, Philadelphia PA USA; The University of Cincinnati, Cincinnati Ohio USA; Nationwide Children’s Hospital, Columbus Ohio, USA; Beth Israel Deaconess Medical Center, Boston MA; The University of Montreal, Montreal Quebec, CA Control 9,337" . _:43ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9337; "people with epilepsy (cases) and controls in the ILAE 2018 mega-analysis, after quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-018-07524-z/MediaObjects/41467_2018_7524_MOESM1_ESM.pdf"; rdfs:comment "Philadelphia Cohort US (Afr&Cauc) Case 1,734 Illumina 550, Omni- Express Thomas Jefferson University Hospital Philadelphia PA USA; The Children’s Hospital of Philadelphia, Philadelphia PA USA; The University of Pensylvania, Philadelphia PA USA; The University of Cincinnati, Cincinnati Ohio USA; Nationwide Children’s Hospital, Columbus Ohio, USA; Beth Israel Deaconess Medical Center, Boston MA; The University of Montreal, Montreal Quebec, CA Control 9,337" . _:44002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHOP"; . _:44012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHoP"; . _:44022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Philadelphia"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19319, _:genid-371333f489424440b12a13b9d98ced822608-genid19321; , ; ; "PGS000004", "PMID:29058716"; "A study of women carrying pathogenic BRCA1 or BRCA2 variants, run at the University of Pisa and its hospital (Azienda Ospedaliera Pisana) in Pisa, Italy, that contributes its carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "The acronym PBCS also denotes Polish Breast Cancer Study (COHO:0000930); this term is Pisa Breast Cancer Study."@en; 49; 39; "PBCS", "PiBCS", "UDP", "Universita di Pisa", "Università di Pisa"; ; rdfs:label "Pisa Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19319 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19321 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19319; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:44042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19321; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:44052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "PBCS | Università di Pisa | ITALY | 39 | 49 | | 6 | 5" . _:44062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:44072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "PBCS | Università di Pisa | ITALY | 39 | 49 | | 6 | 5" . _:44082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of women carrying pathogenic BRCA1 or BRCA2 variants, run at the University of Pisa and its hospital (Azienda Ospedaliera Pisana) in Pisa, Italy, that contributes its carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "PMID:28346442", "PMID:32665703", "PMID:33597508"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 49; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "PBCS | Università di Pisa | ITALY | 39 | 49 | | 6 | 5" . _:440a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 39; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "PBCS | Università di Pisa | ITALY | 39 | 49 | | 6 | 5" . _:440b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PBCS"; . _:440c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PiBCS"; . _:440d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UDP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19332, _:genid-371333f489424440b12a13b9d98ced822608-genid19334; , , , ; ; "PMID:24123842"; "A collection of individuals and multiplex families with schizophrenia and/or bipolar disorder, with psychiatrically screened controls, sampled from the founder population of the Azores and Madeira archipelagos of Portugal through all the islands' psychiatric and general hospitals, taking families only if the proband's parents and four grandparents were native to the islands, with further families from mainland Portugal identified through the University of Coimbra and participants from the first- and second-generation Portuguese immigrant population of the United States; it was used in linkage and association studies of psychosis and became part of the Genomic Psychiatry Cohort."; 347; 216; "PIC", "Portuguese island collection"; rdfs:label "Portuguese Island Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19332 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19334 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:440e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19332; "bipolar disorder"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3729260/"; rdfs:comment "The initial 10,000 GPC participants drawn from earlier studies include our Portuguese Island Collection (PIC) of individuals and multiplex families with schizophrenia and/or bipolar disorder." . _:440f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19334; "schizophrenia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3729260/"; rdfs:comment "The initial 10,000 GPC participants drawn from earlier studies include our Portuguese Island Collection (PIC) of individuals and multiplex families with schizophrenia and/or bipolar disorder." . _:44102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15704217+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Specifically, the 25 families included 20 families from the Portuguese island collection (PIC; 15 families from the Azores Islands and 5 from the Madeira Islands) and 5 families from continental Portugal." . _:44112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature07239/MediaObjects/41586_2008_BFnature07239_MOESM238_ESM.pdf"; rdfs:comment "This population consisted of subjects living in Portugal, the Azorean and Madeiran islands, or the direct (first or second generation) Portuguese immigrant population in the United States" . _:44122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24123842"; "Association study of 83 candidate genes for bipolar disorder in chromosome 6q selected using an evidence-based prioritization algorithm."; "PMID:24123842", "https://pmc.ncbi.nlm.nih.gov/articles/PMC12888025/"; rdfs:comment "Trios, nuclear families—defined as two parents and one or more children, of which at least one child was affected—and phenotypically-discordant sibling pairs were selected from the Portuguese Island Collection (PIC) and the NIMH Genetics Initiative Bipolar Pedigrees on the basis of a proband meeting criteria for bipolar I disorder (BPI), bipolar II disorder (BPII), or schizoaffective disorder, bipolar type." . _:44132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of individuals and multiplex families with schizophrenia and/or bipolar disorder, with psychiatrically screened controls, sampled from the founder population of the Azores and Madeira archipelagos of Portugal through all the islands' psychiatric and general hospitals, taking families only if the proband's parents and four grandparents were native to the islands, with further families from mainland Portugal identified through the University of Coimbra and participants from the first- and second-generation Portuguese immigrant population of the United States; it was used in linkage and association studies of psychosis and became part of the Genomic Psychiatry Cohort."; "PMID:15704217", "PMID:23650244", "PMID:24123842", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature07239/MediaObjects/41586_2008_BFnature07239_MOESM238_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 347; "schizophrenia cases and psychiatrically screened controls from the collection in the ISC 2009 GWAS, after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature08185/MediaObjects/41586_2009_BFnature08185_MOESM267_ESM.pdf"; rdfs:comment "Portuguese Island Collection Portuguese 347 216a 5.0 379,468" . _:44152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 216; "schizophrenia cases and psychiatrically screened controls from the collection in the ISC 2009 GWAS, after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature08185/MediaObjects/41586_2009_BFnature08185_MOESM267_ESM.pdf"; rdfs:comment "Portuguese Island Collection Portuguese 347 216a 5.0 379,468" . _:44162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19343, _:genid-371333f489424440b12a13b9d98ced822608-genid19345; , ; , ; "PGS000777", "PMID:33958783"; "A community-based cohort of people newly diagnosed with Parkinson's disease or other parkinsonism in Cambridgeshire, United Kingdom, recruited between 2006 and 2013: incident cases ascertained through general practitioners and hospital specialists between April 2008 and January 2010, in a second incidence study of the same base population as CamPaIGN, supplemented by other newly diagnosed (inception) cases. Participants are followed up every 18 months with motor, cognitive and neuropsychiatric assessments to study the natural history of Parkinson's disease; the study was sponsored by the University of Cambridge and Cambridge University Hospitals NHS Trust."; 280; "PICNICS", "Parkinsonism: Incidence and Cognitive Heterogeneity in Cambridgeshire", "Parkinsonism: Incidence and Cognitive and Non-motor heterogeneity In CambridgeShire", "Parkinsonism–Incidence and Cognitive Heterogeneity in Cambridgeshire"; ; rdfs:label "Parkinsonism: Incidence, Cognition and Non-motor heterogeneity in Cambridgeshire"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19343 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19345 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19343; "Parkinson's disease"; "https://doi.org/10.1136/jnnp-2015-312581"; rdfs:comment "The PICNICS study recruited newly diagnosed cases of PD and parkinsonism resident in Cambridgeshire between 1 April 2008 and 31 January 2010." . _:44182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19345; "parkinsonism"; "https://doi.org/10.1136/jnnp-2015-312581"; rdfs:comment "The PICNICS study recruited newly diagnosed cases of PD and parkinsonism resident in Cambridgeshire between 1 April 2008 and 31 January 2010." . _:44192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC4119609"; rdfs:comment "We began by studying patients newly diagnosed with PD who were recruited to a community-based incidence study in Cambridgeshire, England (Parkinsonism–Incidence and Cognitive Heterogeneity in Cambridgeshire [PICNICS])." . _:441a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:441b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33958783"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8459648/unicode"; rdfs:comment "HBS, Arizona Study of Aging/Brain and Body Donation Program, NET-PD LS1, CamPaIGN, PICNICS, DIGPD, PDBP, PIB, ParkWest, PROPARK and PROPARK-C cohorts comprised the discovery population and DATATOP, PPMI, PreCEPT and Tartu the replication population." . _:441c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based cohort of people newly diagnosed with Parkinson's disease or other parkinsonism in Cambridgeshire, United Kingdom, recruited between 2006 and 2013: incident cases ascertained through general practitioners and hospital specialists between April 2008 and January 2010, in a second incidence study of the same base population as CamPaIGN, supplemented by other newly diagnosed (inception) cases. Participants are followed up every 18 months with motor, cognitive and neuropsychiatric assessments to study the natural history of Parkinson's disease; the study was sponsored by the University of Cambridge and Cambridge University Hospitals NHS Trust."; "PMID:26800710", "PMID:27717005", "PMID:32303560", "PMID:33958783", "PMID:41964342"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:441d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 280; "participants in the PICNICS cohort (newly diagnosed patients, incident and inception cases)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11542283/fullTextXML"; rdfs:comment "Out of 280 participants in the PICNICS cohort, 198 were included in the analysis at visit 1 (mean 0.26 years from diagnosis), 133 at visit 2 (mean 2.05 years from diagnosis), and 78 at visit 3 (mean 3.73 years from diagnosis); Figure S1." . _:441e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PICNICS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. PICO is the PGS Catalog's mistyping of PLCO: its two scores from one paper list the same 95 cohorts, with PLCO in one and PICO in the other in the same place (PGS000351, PGS000352). Replaced by COHO:0000485 (Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete PICO"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19353; , ; "PGS005221", "PMID:40759756"; "A prospective cohort of healthy midlife and older adults from across Australia, recruited using genetic prediction to be enriched for high and low genetic risk of Alzheimer's disease and followed longitudinally with online surveys and cognitive testing, with at-risk participants and a clinical group of patients with mild cognitive impairment or early Alzheimer's disease invited for neuroimaging, detailed neurocognitive testing and blood sampling, to find the earliest signs and modifiable risk factors of Alzheimer's disease; approved by the ethics committee of QIMR Berghofer Medical Research Institute."; 3801; "PISA", "Prospective Imaging Study of Ageing", "Prospective Imaging Study of Aging"; ; rdfs:label "Prospective Imaging Study of Ageing: Genes, Brain and Behaviour"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19353 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:441f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19353; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7750170/fullTextXML"; rdfs:comment "This prospective cohort study, “Prospective Imaging Study of Ageing: Genes, Brain and Behaviour” (PISA) seeks to characterise the phenotype and natural history of healthy adult Australians at high future risk of Alzheimer’s disease (AD)." . _:44202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7750170/fullTextXML"; rdfs:comment "Online surveys and cognitive testing are used to characterise an Australia-wide sample currently totalling over 3800 participants." . _:44212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005221"; "Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling."; "PMID:40759756" . _:44222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40759756"; "Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling."; "PMID:40759756", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12626885/fullTextXML"; rdfs:comment "To validate latent frailty factors as phenotypes that capture frailty-specific variance, we created polygenic risk scores (PRSs) for each latent frailty factor and used regression models to test how well they predicted frailty and frailty-related outcomes in three external older adult cohorts (the Lothian Birth Cohort 1936 (LBC1936) (n = 1,005; mean age = 69.60), the English Longitudinal Study of Aging (ELSA) (n = 7,181, mean age = 68.45) and the Prospective Imaging Study of Aging (PISA) (n = 3,265, mean age = 60.34)) (Methods and Supplementary Note)." . _:44232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of healthy midlife and older adults from across Australia, recruited using genetic prediction to be enriched for high and low genetic risk of Alzheimer's disease and followed longitudinally with online surveys and cognitive testing, with at-risk participants and a clinical group of patients with mild cognitive impairment or early Alzheimer's disease invited for neuroimaging, detailed neurocognitive testing and blood sampling, to find the earliest signs and modifiable risk factors of Alzheimer's disease; approved by the ethics committee of QIMR Berghofer Medical Research Institute."; "PMID:33341723", "PMID:40759756"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3801; "participants who had taken part in the core online survey by 21 August 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7750170/fullTextXML"; rdfs:comment "To date, 3801 participants have taken part in the core survey with 65% of those going on to complete all additional modules (Fig. 3)." . _:44252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PISA"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. PITT is how facial genetics consortia name the 3D Facial Norms sample: 'Pittsburgh 3D Facial Norms study (PITT)' is the 3D Facial Norms dataset (PMID:31763980, PMID:30405702). Replaced by COHO:0001139 (3D Facial Norms cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Pittsburgh 3D Facial Norms"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19361, _:genid-371333f489424440b12a13b9d98ced822608-genid19363; , ; "PGS000740", "PMID:26352532"; "A prospective, Pittsburgh-based cohort of current and former cigarette smokers aged 50-79 (at least half a pack a day for 25 years and, for former smokers, quit within the last 10 years), enrolled in 2002-2005 for computed-tomography lung cancer screening and long-term follow-up."; 3642; "PLuSS"; ; rdfs:label "Pittsburgh Lung Screening Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19361 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19363 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19361; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40694038+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a prospective nested case-control study of incident lung cancer cases and individually matched healthy controls from the Pittsburgh Lung Screening Study cohort of current and former smokers at high risk for developing lung cancer." . _:44272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19363; "cigarette smoking"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4636453/unicode"; rdfs:comment "The second group of subjects came from the Pittsburgh Lung Screening Study (PLuSS), a Pittsburgh-based CT lung cancer screening study that enrolled, between 2002 and 2005, 50-79 year-old current or former cigarette smokers (≥half pack/day for ≥25 years, quit ≤10 years)." . _:44282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4636453/unicode"; rdfs:comment "The second group of subjects came from the Pittsburgh Lung Screening Study (PLuSS), a Pittsburgh-based CT lung cancer screening study that enrolled, between 2002 and 2005, 50-79 year-old current or former cigarette smokers (≥half pack/day for ≥25 years, quit ≤10 years)." . _:44292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:442a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26352532"; "Lung Cancer Risk Prediction Using Common SNPs Located in GWAS-Identified Susceptibility Regions."; "PMID:26352532", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26352532+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a subset nested in the Pittsburgh Lung Screening Study, change in area under the receiver operator characteristic curve and net reclassification improvement were used to compare predictions made by risk factor models with and without genetic variables." . _:442b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, Pittsburgh-based cohort of current and former cigarette smokers aged 50-79 (at least half a pack a day for 25 years and, for former smokers, quit within the last 10 years), enrolled in 2002-2005 for computed-tomography lung cancer screening and long-term follow-up."; "PMID:26352532"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:442c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3642; "current and former smokers enrolled 2002-2005, all of whom had the initial CT screen"; "PMID:18635890"; rdfs:comment "3,642 and 3,423 subjects had initial and repeat screening." . _:442d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PLuSS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The Princess Margaret Cancer Centre, Toronto, is a cancer hospital; no score in the PGS Catalog uses the id, and every paper found by the name is a different clinical series at the hospital. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Princess Margaret Cancer Centre"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19371; , ; "PMID:34607834"; "A pharmacogenomic study of glycaemic response to metformin and sulfonylureas in adults with type 2 diabetes who are members of Kaiser Permanente in the United States, with drug response defined from HbA1c measurements and prescriptions in electronic health records. Its first cohort, PMET1 (previously named PMT2, from the Pharmacogenomics of Membrane Transporters project of the NIH Pharmacogenomics Research Network), was drawn from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort of the Kaiser Permanente Research Program on Genes, Environment, and Health in Northern California; Kaiser Permanente Northern California also supplied the phenotype data of a second cohort, PMET2."; "PMET", "Pharmacogenomics of metformin study"; rdfs:label "Pharmacogenomics of Metformin"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19371 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:442e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19371; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8669535/fullTextXML"; rdfs:comment "Included participants had a clinical diagnosis of type 2 diabetes and were treated with sulfonylureas as monotherapy or as an add-on to metformin." . _:442f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6014560/"; rdfs:comment "The PMET1-EU in REP1 and the REP3 cohorts were collected from the Research Program on Genes, Environment and Health (RPGEH), based at Kaiser Permanente Northern California" . _:44302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34607834"; "Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas."; "PMID:34607834", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8669535/fullTextXML"; rdfs:comment "Genotyping and quality control procedures for the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS), Hoorn Diabetes Care System (DCS), and Pharmacogenomics of Metformin (PMET) cohorts have previously been described (13,15,16)." . _:44312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pharmacogenomic study of glycaemic response to metformin and sulfonylureas in adults with type 2 diabetes who are members of Kaiser Permanente in the United States, with drug response defined from HbA1c measurements and prescriptions in electronic health records. Its first cohort, PMET1 (previously named PMT2, from the Pharmacogenomics of Membrane Transporters project of the NIH Pharmacogenomics Research Network), was drawn from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort of the Kaiser Permanente Research Program on Genes, Environment, and Health in Northern California; Kaiser Permanente Northern California also supplied the phenotype data of a second cohort, PMET2."; "PMID:27500523", "PMID:29650774", "PMID:34607834", "PMID:42504935"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMET"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Postmenopausal Hormone study (PMH) is the Postmenopausal Hormones Supplementary Study to the Colon Cancer Family Registry, as the GECCO supplement of PMID:26151821 shows. Replaced by COHO:0002266 (Postmenopausal Hormones Supplementary Study to the Colon Cancer Family Registry), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Postmenopausal Hormone study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19377; , ; ; "PGS000734", "PMID:23880798"; "A population-based case-control study of postmenopausal hormone use and colorectal cancer among women aged 50 to 74 in 13 counties of Washington State, United States, whose cases were newly diagnosed with invasive colorectal adenocarcinoma between October 1998 and February 2002 and identified through the SEER cancer registry, and whose controls were randomly selected from driver's licence and Medicare rosters; run as a supplementary study to the Colon Cancer Family Registry."; 1004; 1062; "Hormones and Colon Cancer study", "PMH", "PMH-CCFR", "Postmenopausal Hormone Study", "Postmenopausal Hormone study"; ; rdfs:label "Postmenopausal Hormones Supplementary Study to the Colon Cancer Family Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19377; "invasive colorectal adenocarcinoma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "Eligible case patients included all female residents, ages 50 to 74 years, residing in the 13 counties in Washington State reporting to the Cancer Surveillance SEER program, who were newly diagnosed with invasive colorectal adenocarcinoma (ICD-O C18.0, C18.2-.9, C19.9, C20.0-.9) between October 1998 and February 2002." . _:44342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; rdfs:comment "Eligible case patients included all female residents, ages 50 to 74 years, residing in the 13 counties in Washington State reporting to the Cancer Surveillance SEER program, who were newly diagnosed with invasive colorectal adenocarcinoma (ICD-O C18.0, C18.2-.9, C19.9, C20.0-.9) between October 1998 and February 2002." . _:44352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000734"; "Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer."; "PMID:31866242" . _:44362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23880798"; "No association between germline variation in catechol-O-methyltransferase and colorectal cancer survival in postmenopausal women."; "PMID:23880798", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23880798+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We identified 10 single nucleotide polymorphisms that tagged variation across two isoforms of COMT in 2,458 women with CRC from the Nurses' Health Study, Postmenopausal Hormones Supplementary Study to the Colon Cancer Family Registry, VITamins And Lifestyle Study, and Women's Health Initiative." . _:44372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of postmenopausal hormone use and colorectal cancer among women aged 50 to 74 in 13 counties of Washington State, United States, whose cases were newly diagnosed with invasive colorectal adenocarcinoma between October 1998 and February 2002 and identified through the SEER cancer registry, and whose controls were randomly selected from driver's licence and Medicare rosters; run as a supplementary study to the Colon Cancer Family Registry."; "PMID:23266556", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms8138/MediaObjects/41467_2015_BFncomms8138_MOESM787_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1004; "PMH cases and controls in its own 2007 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17671225+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cases (n = 1,004), ages 50 to 74 years, were identified from the Surveillance Epidemiology and End Results registry in Washington from 1998 to 2002; controls (n = 1,062) were randomly selected from population lists." . _:44392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1062; "PMH cases and controls in its own 2007 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17671225+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cases (n = 1,004), ages 50 to 74 years, were identified from the Surveillance Epidemiology and End Results registry in Washington from 1998 to 2002; controls (n = 1,062) were randomly selected from population lists." . _:443a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMH"; . _:443b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMH-CCFR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19387, _:genid-371333f489424440b12a13b9d98ced822608-genid19389; , ; "PGS000740", "PMID:26590902"; "A hospital-based case–control study of lung and head and neck cancers conducted from 2008 in the Greater Toronto Area, Canada, at Mount Sinai Hospital (Sinai Health System) and Princess Margaret Cancer Centre, in which histologically confirmed cases seen at the hospitals' clinics and controls selected at random from family medicine clinic databases, frequency-matched on age and sex, were interviewed with a standard questionnaire on lifestyle, occupational, medical and family history."; "The acronym MSH also denotes BioMe Biobank (COHO:0000424) and Multicenter Study of Hydroxyurea in Sickle Cell Anemia (COHO:0000987); this term is Mount Sinai Hospital-Princess Margaret Multicancer Study."@en; 3534; 1423; 4957; "MSH", "MSH-PMH", "Mount Sinai Hospital-Princess Margaret Hospital Study", "Mount Sinai Hospital-Princess Margaret Multicancer study", "Mount-Sinai Hospital-Princess Margaret", "Mount-Sinai Hospital-Princess Margaret case–control study", "PMHT", "Princess Margaret Hospital in Toronto", "The Mount-Sinai Hospital-Princess Margaret Study"; ; rdfs:label "Mount Sinai Hospital-Princess Margaret Multicancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19389 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:443c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19387; "head and neck cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7454981/fullTextXML"; rdfs:comment "Cases were patients diagnosed with lung or head and neck cancer, collectively termed as upper aero-digestive tract (UADT) cancer." . _:443d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19389; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7454981/fullTextXML"; rdfs:comment "Cases were patients diagnosed with lung or head and neck cancer, collectively termed as upper aero-digestive tract (UADT) cancer." . _:443e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7454981/fullTextXML"; rdfs:comment "The Mount Sinai Hospital-Princess Margaret Multicancer study (MSH-PMH) was conducted at Sinai Health System and Princess Margaret Cancer Centre, two adjacent academic health care institutions in the Greater Toronto Area, Canada, between October 2008 and December 2014." . _:443f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:44402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26590902"; "Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci."; "PMID:26590902", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4715236/"; rdfs:comment "A large pooled sample was assembled consisting of 10 independent case–control studies (Table 1): Mount-Sinai Hospital-Princess Margaret (MSH-PMH)" . _:44412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung and head and neck cancers conducted from 2008 in the Greater Toronto Area, Canada, at Mount Sinai Hospital (Sinai Health System) and Princess Margaret Cancer Centre, in which histologically confirmed cases seen at the hospitals' clinics and controls selected at random from family medicine clinic databases, frequency-matched on age and sex, were interviewed with a standard questionnaire on lifestyle, occupational, medical and family history."; "PMID:32857771", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3534; "lung and head and neck cancer cases and controls recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7454981/fullTextXML"; rdfs:comment "A total of 4957 subjects were recruited which consisted of 3534 Upper aerodigestive tract (UADT) cancer cases and 1423 healthy controls." . _:44432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1423; "lung and head and neck cancer cases and controls recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7454981/fullTextXML"; rdfs:comment "A total of 4957 subjects were recruited which consisted of 3534 Upper aerodigestive tract (UADT) cancer cases and 1423 healthy controls." . _:44442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4957; "lung and head and neck cancer cases and controls recruited"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7454981/fullTextXML"; rdfs:comment "A total of 4957 subjects were recruited which consisted of 3534 Upper aerodigestive tract (UADT) cancer cases and 1423 healthy controls." . _:44452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH"; . _:44462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MSH-PMH"; . _:44472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMHT"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. POAG names a disease, primary open-angle glaucoma, not a study; no score in the PGS Catalog uses the id. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Primary Open Angle Glaucoma"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Poland is a country: the PGS Catalog cohort id Poland is the PRACTICAL consortium’s label for a prostate cancer case-control sample from the University Hospital in Szczecin (The Poland Group) and, in a breast cancer score, another Polish sample, neither a cohort with a name of its own. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Poland"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. POLYGENE is the Ovarian Cancer Association Consortium's Nijmegen study NTH ('Nijmegen Polygene Study & Nijmegen Biomedical Study POLYGENE NTH Netherlands', PMID:21639959), which the consortium's later tables call the Nijmegen Ovarian Cancer Study. Replaced by COHO:0002170 (Nijmegen Ovarian Cancer Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Nijmegen Polygene Study & Nijmegen Biomedical Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19401; , ; , , ; "PGS000344", "PMID:32424353"; "A prospective cohort of women in the United Kingdom diagnosed with a first primary breast cancer at age 40 or younger, recruited between June 2001 and December 2007 (with an additional category of BRCA1 or BRCA2 carriers diagnosed at 41 to 50), with family history, epidemiological and clinical data and blood collected and annual follow-up, to establish whether genetic status influences breast cancer prognosis independently of known prognostic factors."; 3021; 3021; "POSH", "POSH study", "Prospective Study of Outcomes in Sporadic Versus Hereditary Breast Cancer", "Prospective Study of Outcomes in Sporadic Versus Hereditary Breast Cancer Study", "Prospective Study of Outcomes in Sporadic and Hereditary Breast Cancer", "Prospective Study of Outcomes in Sporadic versus Hereditary Breast Cancer Study"; ; rdfs:label "Prospective study of Outcomes in Sporadic versus Hereditary breast cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19401 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19401; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5805863/fullTextXML"; rdfs:comment "Patients were eligible if they were diagnosed with invasive breast cancer aged 40 years or younger." . _:44492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3632836/"; rdfs:comment "Three thousand nine hundred and sixty breast cancer cases were used in stage 1, of which 3,652 were from cancer genetics clinics in the UK recruited through the Familial Breast Cancer Study (FBCS) and 308 were from oncology clinics in the UK recruited through the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study." . _:444a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:444b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:444c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of women in the United Kingdom diagnosed with a first primary breast cancer at age 40 or younger, recruited between June 2001 and December 2007 (with an additional category of BRCA1 or BRCA2 carriers diagnosed at 41 to 50), with family history, epidemiological and clinical data and blood collected and annual follow-up, to establish whether genetic status influences breast cancer prognosis independently of known prognostic factors."; "PMID:17697367", "PMID:20453838"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:444d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3021; "eligible POSH women aged 40 or younger recruited January 2000-January 2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5805863/fullTextXML"; rdfs:comment "Between Jan 24, 2000, and Jan 24, 2008, we recruited 3021 eligible women, of whom 2733 (91%) were included in the analysis population, and 288 (9%) were excluded (figure 1; appendix p 11)." . _:444e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3021; "eligible POSH women aged 40 or younger recruited January 2000-January 2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5805863/fullTextXML"; rdfs:comment "Between Jan 24, 2000, and Jan 24, 2008, we recruited 3021 eligible women, of whom 2733 (91%) were included in the analysis population, and 288 (9%) were excluded (figure 1; appendix p 11)." . _:444f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "POSH"; . a owl:NamedIndividual, ; ; "PostCep"; ; rdfs:label "PostCep Study"@en . _:44502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PostCep"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The PGS Catalog id PoWHDR is not attached to any score or sample set in the Catalog's current data (REST /cohort/PoWHDR returns nothing; absent from cohort_papers.json), and Europe PMC has no paper with the exact phrase, so the PGS paper that used it could not be read; the identification rests on the name. The Prince of Wales Hospital (Shatin, the teaching hospital of the Chinese University of Hong Kong) runs one diabetes registry: the Hong Kong Diabetes Register/Registry (HKDR), 'established as a quality improvement program at the Prince of Wales Hospital since 1995' (PMID:24376643). 'Prince of Wales Hospital Diabetes Registry' is the Catalog's name for that register, which COHO already has as COHO:0001188 (whose definition already names the Prince of Wales Hospital). Add PoWHDR and the Catalog name to it; retire the placeholder. Replaced by COHO:0001188 (Hong Kong Diabetes Register), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Prince of Wales Hospital Diabetes Registry"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19411; , ; ; "PGS000741", "PMID:29321194"; "A hospital-based case–control study of prostate cancer in Surrey, United Kingdom, run with the University of Surrey, in which men with confirmed prostate cancer who presented to two district hospitals (Royal Surrey County Hospital and Frimley Park Hospital) between February 2009 and March 2011 and healthy volunteers with normal PSA gave DNA samples, contributed to the PRACTICAL consortium's iCOGS genotyping."; 311; 242; "PPF-UNIS", "PPF-Unis", "PPF-Unis / SUN study", "Prostate Project Foundation-Postgraduate Medical School, Surrey", "Prostate Project Foundation–Postgraduate Medical School, Surrey", "SUN", "SUN study"; ; rdfs:label "Prostate Project Foundation - Postgraduate Medical School, Surrey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19411 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19411; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "SUN study represents a cohort of 311 men with confirmed prostate cancer who presented to two district hospitals (Royal Surrey County Hospital and Frimley Park Hospital) between February 2009 and March 2011 and 242 healthy volunteers with normal PSA." . _:44522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "PPF-Unis / SUN study, Surrey, UK" . _:44532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:44542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29321194"; "Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts."; "PMID:29321194", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5759091/supplementaryFiles"; rdfs:comment "70.0) 65.0 (59.0- 71.5) 0.11 (-1.07-1.53) MOFFITT USA 2002- 2009 Hospital recruitment 513 413 195 100 64.0 (59.0-71.0) 65.0 (59.8- 71.0) 66.0 (61.0- 73.0) 62.0 (57.0- 67.0) 0.14 (-0.72-0.97) PCMUS Bulgaria 1993- 2011 Hospital recruitment 291 151 122 140 68.0 (62.0-74.0) 69.3 (63.4- 74.4) 69.9 (63.5- 75.4) 67.0 (60.0- 73.3) 0.07 (-2.61-0.84) PPF-UNIS UK 1993- 2011 Hospital recruitment 433 245 151 188 68.3 (62.1-73.6) 69.4 (63.2- 73.5) 70.9 (65.2- 75.0) 67.2 (59.8- 73.8) 0.12 (-2.28-1.10) Poland Poland 1999- 2009 Hospital recruitment 790 438 259 352 67.0 (58.0-72.0) 68.0 (63.0- 73.0) 69.0 (63.0- 73.8) 62.0 (54.0- 71.0) 0.12 (-0.78-0.93) ProMPT UK 2001- 2009 Population-based 168 166 130" . _:44552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of prostate cancer in Surrey, United Kingdom, run with the University of Surrey, in which men with confirmed prostate cancer who presented to two district hospitals (Royal Surrey County Hospital and Frimley Park Hospital) between February 2009 and March 2011 and healthy volunteers with normal PSA gave DNA samples, contributed to the PRACTICAL consortium's iCOGS genotyping."; "PMID:26387087", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 311; "prostate cancer cases and healthy volunteers recruited 2009-2011; no total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "SUN study represents a cohort of 311 men with confirmed prostate cancer who presented to two district hospitals (Royal Surrey County Hospital and Frimley Park Hospital) between February 2009 and March 2011 and 242 healthy volunteers with normal PSA." . _:44572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 242; "prostate cancer cases and healthy volunteers recruited 2009-2011; no total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "SUN study represents a cohort of 311 men with confirmed prostate cancer who presented to two district hospitals (Royal Surrey County Hospital and Frimley Park Hospital) between February 2009 and March 2011 and 242 healthy volunteers with normal PSA." . _:44582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPF-UNIS"; . _:44592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PPF-Unis"; . _:445a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19422; , ; "PGS000742", "PMID:33623038"; "A population-based case-control study of prostate cancer in men of European ancestry in Galicia, Spain, run from the Cancer Genetics Unit of the Vigo University Hospital Complex (CHUVI), with samples from the biobanks of the University Hospital Complexes of Vigo and Santiago de Compostela."; 130; 102; 232; "PRAGGA", "PRostate cAncer Genetics in Galicia", "Prostate Cancer Genetics in Galacia"; ; rdfs:label "Prostate cAncer Genetics in Galicia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19422 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:445b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19422; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PRAGGA (n=232) Prostate cAncer Genetics in Galicia Galicia, Spain Case-control 102 130 88 6 229 3 0 204 0.4896" . _:445c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "PRAGGA PRostate cAncer Genetics in Galicia Galicia Spain Case-control" . _:445d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:445e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PRAGGA (n=232) Prostate cAncer Genetics in Galicia Galicia, Spain Case-control 102 130 88 6 229 3 0 204 0.4896" . _:445f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of prostate cancer in men of European ancestry in Galicia, Spain, run from the Cancer Genetics Unit of the Vigo University Hospital Complex (CHUVI), with samples from the biobanks of the University Hospital Complexes of Vigo and Santiago de Compostela."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 130; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PRAGGA (n=232) Prostate cAncer Genetics in Galicia Galicia, Spain Case-control 102 130 88 6 229 3 0 204 0.4896" . _:44612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 102; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PRAGGA (n=232) Prostate cAncer Genetics in Galicia Galicia, Spain Case-control 102 130 88 6 229 3 0 204 0.4896" . _:44622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 232; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PRAGGA (n=232) Prostate cAncer Genetics in Galicia Galicia, Spain Case-control 102 130 88 6 229 3 0 204 0.4896" . _:44632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRAGGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19432, _:genid-371333f489424440b12a13b9d98ced822608-genid19434, _:genid-371333f489424440b12a13b9d98ced822608-genid19436, _:genid-371333f489424440b12a13b9d98ced822608-genid19438, _:genid-371333f489424440b12a13b9d98ced822608-genid19440, _:genid-371333f489424440b12a13b9d98ced822608-genid19442, _:genid-371333f489424440b12a13b9d98ced822608-genid19444; , , , , , , , , , ; "PGS000341", "PMID:32665668"; "A European multicentre observational study of the PRECISESADS project that recruited adults with systemic autoimmune diseases (rheumatoid arthritis, systemic sclerosis, primary Sjögren's syndrome, systemic lupus erythematosus, primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and healthy controls at 19 institutions in nine countries between December 2014 and December 2018, in a cross-sectional cohort and a prospective inception cohort, to reclassify these diseases into molecular clusters using omics profiles."; 2559; "Molecular Reclassification to Find Clinically Useful Biomarkers for Systemic Autoimmune Diseases: Cross Sectional Cohort", "Molecular Reclassification to Find Clinically Useful Biomarkers for Systemic Autoimmune Diseases: Inception Cohort", "PRECISESADS", "PRECISESADS cohort", "PRECISESADS study", "PRECISESADSI", "Systemic Autoimmune Diseases: Inception Cohort (PRECISESADSI)"; ; rdfs:label "Molecular Reclassification to Find Clinically Useful Biomarkers for Systemic Autoimmune Diseases"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19432 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19434 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19436 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19438 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19440 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19442 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19444 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19432; "systemic sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:44652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19434; "primary antiphospholipid syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:44662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19436; "mixed connective tissue disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:44672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19438; "systemic lupus erythematosus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:44682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19440; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:44692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19442; "primary Sjögren's syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:446a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19444; "undifferentiated connective tissue disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The target number of included patients affected by systemic autoimmune diseases was 2005 (around 400 by disease or group of diseases: rheumatoid arthritis, scleroderma or systemic sclerosis, primary Sjögren’s syndrome, systemic lupus erythematosus, and primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and 554 healthy controls." . _:446b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The PRECISESADS study is a European multi center, non-randomized, and observational clinical study with recruitment performed between December 2014 and December 2018 at 19 institutions in 9 countries (Austria, Belgium, France, Germany, Hungary, Italy, Portugal, Spain and Switzerland)." . _:446c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000341"; "Genomic Risk Score impact on susceptibility to systemic sclerosis."; "PMID:33004331" . _:446d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32665668"; "Standardization procedure for flow cytometry data harmonization in prospective multicenter studies."; "PMID:32665668", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "As part of the IMI PRECISESADS study project, a multicenter analysis, using eleven different instruments (Navios, Gallios from Beckman Coulter, Canto II, Fortessa, Verse, Aria from BD Biosciences), prospectively on blood freshly collected from 2,559 individuals over a period of 4 years, was required." . _:446e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European multicentre observational study of the PRECISESADS project that recruited adults with systemic autoimmune diseases (rheumatoid arthritis, systemic sclerosis, primary Sjögren's syndrome, systemic lupus erythematosus, primary antiphospholipid syndrome, mixed connective tissue disease and undifferentiated connective tissue disease) and healthy controls at 19 institutions in nine countries between December 2014 and December 2018, in a cross-sectional cohort and a prospective inception cohort, to reclassify these diseases into molecular clusters using omics profiles."; "PMID:32665668", "https://clinicaltrials.gov/api/v2/studies/NCT02890134?fields=IdentificationModule,DescriptionModule,DesignModule,ContactsLocationsModule,StatusModule"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:446f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2559; "individuals (patients with seven systemic autoimmune diseases and healthy controls) included in the study, December 2014-December 2018 (2014-2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7360585/fullTextXML"; rdfs:comment "The inclusion of the study's 2,559 individuals was done along the way during the 4 years of the PRECISESADS project between December 2014 and December 2018." . _:44702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRECISESADS"; . _:44712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRECISESADSI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19453; , ; ; "PGS000344", "PMID:32424353"; "A prospective, open-label, multicentre phase IV clinical trial in Germany which in 2009-2011 enrolled postmenopausal women with hormone receptor-positive early breast cancer whose physician had indicated five years of upfront adjuvant letrozole, to evaluate predictive factors of aromatase inhibitor effectiveness, survival and safety, with a biomaterial collection of germline DNA, plasma, serum and tumour tissue."; 3529; "Evaluation of PREdictive FACtors Regarding the Effectivity of Aromatase Inhibitor Therapy", "Evaluation of Predictive Factors regarding the Effectivity of Aromatase Inhibitor Therapy", "PREFACE", "PREFACE Trial", "PreFace", "PreFace Study", "PreFace trial"; ; rdfs:label "Evaluation of Predictive Factors Regarding the Effectivity of Aromatase Inhibitor Therapy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19453 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19453; "hormone receptor-positive breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10853028/fullTextXML"; rdfs:comment "Postmenopausal hormone receptor-positive BC patients, for whom an upfront five-year therapy with letrozole (2.5 mg/day) was indicated, were eligible." . _:44732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10853028/fullTextXML"; rdfs:comment "The study was conducted in multiple study sites across Germany." . _:44742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:44752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7808397/fullTextXML"; rdfs:comment "BCAC DACC approval is required to access data from the ABCFS, ABCS, ABCTB, BBCC, BBCS, BCEES, BCFR-NY, BCFR-PA, BCFR-UT, BCINIS, BSUCH, CBCS, CECILE, CGPS, CTS, DIETCOMPLYF, ESTHER, GC-HBOC, GENICA, GEPARSIXTO, GESBC, HABCS, HCSC, HEBCS, HMBCS, HUBCS, KARBAC, KBCP, LMBC, MABCS, MARIE, MBCSG, MCBCS, MISS, MMHS, MTLGEBCS, NC-BCFR, OFBCR, ORIGO, pKARMA, POSH, PREFACE, RBCS, SKKDKFZS, SUCCESSB, SUCCESSC, SZBCS, TNBCC, UCIBCS, UKBGS and UKOPS studies (Supplementary Table 1)." . _:44762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, open-label, multicentre phase IV clinical trial in Germany which in 2009-2011 enrolled postmenopausal women with hormone receptor-positive early breast cancer whose physician had indicated five years of upfront adjuvant letrozole, to evaluate predictive factors of aromatase inhibitor effectiveness, survival and safety, with a biomaterial collection of germline DNA, plasma, serum and tumour tissue."; "PMID:38344045"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3529; "patients registered before screening and treatment exclusions (2009–2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10853028/fullTextXML"; rdfs:comment "From February 2009 to January 2011, a total of 3529 patients were registered in the PreFace study." . _:44782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PREFACE"; . _:44792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PreFace"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19462, _:genid-371333f489424440b12a13b9d98ced822608-genid19464; , , ; ; "PGS004588", "PMID:36520433"; "A multicentre research cohort of the PREMIER consortium, which from 2019 to 2022 enrolled people with mild cognitive impairment, with cognitively unimpaired people and people with Alzheimer's-type or frontotemporal dementia as control groups, from memory clinics, regional dementia centres and hospitals across South Korea, and assessed them with neuropsychological tests, questionnaires, brain MRI, amyloid PET and blood samples (DNA, plasma, serum) to build a platform for the early diagnosis and precision-medicine treatment of mild cognitive impairment and dementia; it is one of the cohorts of K-ROAD."; 1700; "Establishment of Precision Medicine Platform for Early Diagnosis of Mild Cognitive Impairment", "PREMIER", "PREMIER Consortium", "PREMIER cohort", "PREMIER consortium", "PREMIER consortium study", "PREMIER study", "PREMiER", "PREMiER study", "PREcision medicine platform for mild cognitive impairment on multi-omics, imaging, and evidence-based R&BD", "PREcision medicine platform for mild cognitive impairment on multi-omics, imaging, evidence-based R&BD", "PRecision mEdicine platform for mild cognitive impairment based on Multi-omics, Imaging, Evidence-based R&BD", "Precision Medicine Platform for MCI based on multi-omics, imaging, evidence-based R&BD", "Precision Medicine Platform for Mild Cognitive Impairment Based on Multi-omics, Imaging, Evidence-Based R&BD", "precision medicine platform for mild cognitive impairment based on multi-omics, imaging, evidence-based R&BD"; ; rdfs:label "Precision Medicine Platform for Mild Cognitive Impairment Based on Multi-omics, Imaging and Evidence-based Research & Business Development"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19462 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19464 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:447a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19462; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11538854/fullTextXML"; rdfs:comment "The PREMIER consortium (May 2019 and December 2022) recruited a research cohort to establish an R&BD platform for the development of early diagnosis and precision medicine-based treatment of mild cognitive impairment (MCI) and dementia." . _:447b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19464; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11538854/fullTextXML"; rdfs:comment "The PREMIER consortium (May 2019 and December 2022) recruited a research cohort to establish an R&BD platform for the development of early diagnosis and precision medicine-based treatment of mild cognitive impairment (MCI) and dementia." . _:447c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12046249/fullTextXML"; rdfs:comment "Between May 2019 and May 2022, 1,700 participants were enrolled in the Precision Medicine Platform for MCI based on multi-omics, imaging, evidence-based R&BD (PREMIER) consortium, a large-scale, multi-center study involving 25 centers across South Korea." . _:447d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004588"; "Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes."; "PMID:36520433" . _:447e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36520433"; "Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes."; "PMID:36520433", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9856322/fullTextXML"; rdfs:comment "The remaining 254 participants were recruited from the PREMIER (Precision Medicine Platform for Mild Cognitive Impairment Based on Multi-omics, Imaging and Evidence-based Research & Business Development) study." . _:447f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre research cohort of the PREMIER consortium, which from 2019 to 2022 enrolled people with mild cognitive impairment, with cognitively unimpaired people and people with Alzheimer's-type or frontotemporal dementia as control groups, from memory clinics, regional dementia centres and hospitals across South Korea, and assessed them with neuropsychological tests, questionnaires, brain MRI, amyloid PET and blood samples (DNA, plasma, serum) to build a platform for the early diagnosis and precision-medicine treatment of mild cognitive impairment and dementia; it is one of the cohorts of K-ROAD."; "PMID:39113750", "PMID:39254221", "PMID:39512701", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12046249/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1700; "participants enrolled May 2019-May 2022 at 25 centres across South Korea (2019-2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12046249/fullTextXML"; rdfs:comment "Between May 2019 and May 2022, 1,700 participants were enrolled in the Precision Medicine Platform for MCI based on multi-omics, imaging, evidence-based R&BD (PREMIER) consortium, a large-scale, multi-center study involving 25 centers across South Korea." . _:44812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PREMIER"; . _:44822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PREMiER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19473; , ; ; "PMID:20339536"; "An investigator-initiated, multicentre, community-based trial in office-based practices in the United States that from February to December 2000 evaluated the effect of pravastatin 40 mg/d on C-reactive protein: men and women with no prior cardiovascular disease (the primary prevention cohort) were randomly assigned, double-blind, to pravastatin or placebo for 24 weeks, and patients with known cardiovascular disease (the secondary prevention cohort) received open-label pravastatin, with lipid profiles and high-sensitivity C-reactive protein measured at baseline, 12 and 24 weeks. DNA collected from participants was later used in genome-wide studies of the lipid-lowering response to statins."; 1536; "PRINCE", "PRavastatin Inflammation CRP Evaluation", "Pravastatin Inflammation CRP Evaluation study", "Pravastatin Inflammation/CRP Evaluation Study", "Pravastatin/Inflammation CRP Evaluation", "pravastatin inflammation CRP evaluation", "pravastatin inflammation/CRP evaluation"; rdfs:label "Pravastatin Inflammation/CRP Evaluation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19473 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19473; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11434828+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Community-based, prospective, randomized, double-blind trial including 1702 men and women with no prior history of cardiovascular disease (primary prevention cohort) and open-label study including 1182 patients with known cardiovascular disease (secondary prevention cohort) who provided at least baseline and 12-week blood samples." . _:44842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11434828+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study was conducted in US office-based practices from February to December 2000." . _:44852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20339536"; "Genome-wide association of lipid-lowering response to statins in combined study populations."; "PMID:20339536", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2842298/fullTextXML"; rdfs:comment "DNA samples were collected from 1536 PRINCE participants including 1362 that were self-identified as Caucasian [22]." . _:44862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An investigator-initiated, multicentre, community-based trial in office-based practices in the United States that from February to December 2000 evaluated the effect of pravastatin 40 mg/d on C-reactive protein: men and women with no prior cardiovascular disease (the primary prevention cohort) were randomly assigned, double-blind, to pravastatin or placebo for 24 weeks, and patients with known cardiovascular disease (the secondary prevention cohort) received open-label pravastatin, with lipid profiles and high-sensitivity C-reactive protein measured at baseline, 12 and 24 weeks. DNA collected from participants was later used in genome-wide studies of the lipid-lowering response to statins."; "PMID:11376301", "PMID:11434828", "PMID:20339536"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1536; "PRINCE participants who donated DNA for pharmacogenetic analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2842298/fullTextXML"; rdfs:comment "DNA samples were collected from 1536 PRINCE participants including 1362 that were self-identified as Caucasian [22]." . _:44882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRINCE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19480, _:genid-371333f489424440b12a13b9d98ced822608-genid19482; , , , ; "PGS000666", "PMID:38109351"; "A multicentre prospective study in Australia and Belgium, enrolling since 2017, of atrial and ventricular remodelling and the prevalence and incidence of arrhythmias, especially atrial fibrillation, in endurance athletes aged 16 to 80 (young elite, retiring and retired athletes, including athletes referred with known or suspected arrhythmias) and in age- and sex-matched non-athletes."; "Atrial remodelling and risk of arrhythmias in endurance athletes", "ProAFHeart", "ProAFHeart study", "ProAFheart", "Prospective Atrial Fibrillation Athletic Heart"; ; rdfs:label "Prospective Atrial Fibrillation Athletic Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19480 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19480; "training load"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11062611/fullTextXML"; rdfs:comment "These international multicenter prospective trials aimed to investigate the effect of training load and genotype on the variability of structural, functional, and electrical exercise-induced cardiac remodeling in elite competitive endurance athletes, and the full study protocol has been detailed." . _:448a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19482; "arrhythmias"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12305178/fullTextXML"; rdfs:comment "The ProAFHeart study is a multicentre prospective trial aiming to determine the prevalence and 2-year incidence of arrhythmias and athletic remodeling in endurance athletes 16–80 years of age." . _:448b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11062611/fullTextXML"; rdfs:comment "The athletes were enrolled to undergo the study investigations at 1 of 5 medical research facilities: (1) Baker Heart and Diabetes Institute, Melbourne, Australia; (2) Royal Adelaide Hospital, Adelaide, Australia; (3) Gasthuisberg University Hospital, Leuven, Belgium; (4) Jessa Ziekenhuis, Hasselt, Belgium; and (5) Universitair Ziekenhuis Antwerpen, Antwerp, Belgium." . _:448c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000666"; "Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy."; "PMID:38109351" . _:448d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38109351"; "Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy."; "PMID:38109351", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11062611/fullTextXML"; rdfs:comment "The study cohort consisted of elite competitive endurance athletes from the Pro@Heart (Prospective Athletic Heart) and ProAFHeart (Prospective Atrial Fibrillation Athletic Heart) studies." . _:448e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective study in Australia and Belgium, enrolling since 2017, of atrial and ventricular remodelling and the prevalence and incidence of arrhythmias, especially atrial fibrillation, in endurance athletes aged 16 to 80 (young elite, retiring and retired athletes, including athletes referred with known or suspected arrhythmias) and in age- and sex-matched non-athletes."; "PMID:40273982", "https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?ACTRN=12618000711213"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:448f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProAFHeart"; . _:44902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProAFheart"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19490; , ; ; ; "PGS000742", "PMID:33623038"; "A nationwide Swedish cohort of men with localized prostate cancer, drawn from the National Prostate Cancer Register of Sweden Follow-up Study (men registered in 1997-2002 with localized disease, PSA below 20 ng/mL and age 70 or younger at diagnosis), whose members still alive in 2007 answered a lifestyle questionnaire and gave a blood sample for genetic analysis in 2007-2008, to study genetic and lifestyle factors in prostate cancer progression and survival."; 5779; "PROCAP", "PROCAP study", "PROgression in CAncer of the Prostate", "PROgression in Cancer of the Prostate"; ; rdfs:label "Progression in Cancer of the Prostate"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19490 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19490; "localized prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7012357/fullTextXML"; rdfs:comment "Briefly, study participants were derived from a retrospective nationwide cohort study of men with localized prostate cancer, the National Prostate Cancer Register (NPCR) of Sweden Follow-up Study (Stattin et al., 2008)." . _:44922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7012357/fullTextXML"; rdfs:comment "Men in the NPCR of Sweden Follow-up Study who were still alive in 2007 (n = 7075) were eligible for and invited to participate in the PROCAP study." . _:44932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7012357/"; rdfs:comment "Men in the NPCR of Sweden Follow-up Study who were still alive in 2007 (n = 7075) were eligible for and invited to participate in the PROCAP study. In total, 5779 (82%) men agreed to participate in PROCAP." . _:44942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:44952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "We thank and acknowledge all of the participants in the PROCAP study." . _:44962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide Swedish cohort of men with localized prostate cancer, drawn from the National Prostate Cancer Register of Sweden Follow-up Study (men registered in 1997-2002 with localized disease, PSA below 20 ng/mL and age 70 or younger at diagnosis), whose members still alive in 2007 answered a lifestyle questionnaire and gave a blood sample for genetic analysis in 2007-2008, to study genetic and lifestyle factors in prostate cancer progression and survival."; "PMID:31343436"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5779; "PROCAP men who agreed to participate in 2007–2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7012357/fullTextXML"; rdfs:comment "In total, 5779 (82%) men agreed to participate in PROCAP." . _:44982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROCAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19499; , ; ; "PMID:23785401"; "A cross-sectional multicentre study of multiple sclerosis in continental Italy (excluding Sardinia), coordinated from Novara (the AOU Maggiore della Carità and the University of Piemonte Orientale), in which consecutive patients with multiple sclerosis of Italian ancestry, mostly from north-west Italy, were recruited through hospital-based clinics and gave DNA, to study genetic factors in multiple sclerosis, in particular prognostic ones."; 1002; "PROGEMUS", "PROGEMUS Consortium", "PROGEMUS Group", "PROGEMUS study", "PROgnostic GEnetic factors in MUltiple Sclerosis"; rdfs:label "Prognostic Genetic factors in Multiple Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19499 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19499; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3681825/fullTextXML"; rdfs:comment "A total of 1347 consecutive Italian MS patients diagnosed according to McDonald criteria [4], were ascertained by two Italian consortia, PROGEMUS (N = 1002), and PROGRESSO (N = 345)." . _:449a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature10251/MediaObjects/41586_2011_BFnature10251_MOESM243_ESM.pdf"; rdfs:comment "Patients were collected from Continental Italy (excluding Sardinia) as part of the PROGEMUS (PROgnostic GEnetic factors in MUltiple Sclerosis) project, 87% of cases were collected in North-West Italy (Novara, Torino, Milano, Pavia) and 13% in Central Italy (Rome)." . _:449b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23785401"; "Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients."; "PMID:23785401", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3681825/fullTextXML"; rdfs:comment "A total of 1347 consecutive Italian MS patients diagnosed according to McDonald criteria [4], were ascertained by two Italian consortia, PROGEMUS (N = 1002), and PROGRESSO (N = 345)." . _:449c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional multicentre study of multiple sclerosis in continental Italy (excluding Sardinia), coordinated from Novara (the AOU Maggiore della Carità and the University of Piemonte Orientale), in which consecutive patients with multiple sclerosis of Italian ancestry, mostly from north-west Italy, were recruited through hospital-based clinics and gave DNA, to study genetic factors in multiple sclerosis, in particular prognostic ones."; "PMID:21833088", "PMID:23785401", "PMID:29587799", "PMID:38927672"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:449d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1002; "consecutive MS patients ascertained by PROGEMUS in the example study (PMID:23785401)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3681825/fullTextXML"; rdfs:comment "A total of 1347 consecutive Italian MS patients diagnosed according to McDonald criteria [4], were ascertained by two Italian consortia, PROGEMUS (N = 1002), and PROGRESSO (N = 345)." . _:449e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGEMUS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19506; , ; ; "PMID:19279319"; "A genetic study of familial Parkinson's disease, run through the Parkinson Study Group, that ascertains multiplex families through a pair of living siblings who both have Parkinson's disease and has the affected family members examined by movement disorder specialists at Parkinson Study Group clinical centres throughout North America, to identify genes contributing to susceptibility to Parkinson's disease."; 1497; "PROGENI", "PROGENI Study", "PROGENI study", "Parkinson's Research: The Organized GENetics Initiative", "Parkinsons Research: The Organized Genetics Initiative"; rdfs:label "Parkinson's Research: The Organized Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19506 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:449f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19506; "Parkinson disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2690967/"; rdfs:comment "As part of an ongoing study designed to identify genes contributing to PD susceptibility (PROGENI Study), subjects with PD were recruited through the Parkinson Study Group (PSG), a network of 65 participating clinical centers located throughout North America." . _:44a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4946647/"; rdfs:comment "The setting was among individuals with familial PD enrolled from academic movement disorder specialty clinics across the United States." . _:44a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19279319"; "Variation in GIGYF2 is not associated with Parkinson disease."; "PMID:19279319", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2690967/"; rdfs:comment "As part of an ongoing study designed to identify genes contributing to PD susceptibility (PROGENI Study), subjects with PD were recruited through the Parkinson Study Group (PSG), a network of 65 participating clinical centers located throughout North America." . _:44a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of familial Parkinson's disease, run through the Parkinson Study Group, that ascertains multiplex families through a pair of living siblings who both have Parkinson's disease and has the affected family members examined by movement disorder specialists at Parkinson Study Group clinical centres throughout North America, to identify genes contributing to susceptibility to Parkinson's disease."; "PMID:18987351", "PMID:19279319", "PMID:26595808"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1497; "members of the 566 multiplex PD families in the study's entire sample (1,324 reported to have PD), 2009"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2690967/"; rdfs:comment "Our entire sample of 566 multiplex PD families, consisting of 1,497 members, including 1,324 reported to have PD, were genotyped for the seven GIGYF2 point mutations previously reported12 as well as the three novel missense variants we identified through sequencing." . _:44a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGENI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19513; , ; ; "PGS000751", "PMID:29892016"; "A hospital-based, prospective, observational case-control study of prostate cancer at the Hospital Clínico Universitario de Santiago de Compostela, Galicia, Spain, whose cases are men with prostate cancer from that hospital and whose controls are cancer-free men from the same population, funded by the Spanish Ministry of Health; it is one of the PRACTICAL consortium studies genotyped in the prostate cancer OncoArray project."; "The acronym PROGRESS also denotes Programming Research in Obesity, Growth, Environment and Social Stressors (COHO:0002651); this term is PROGReSS study."@en; 674; 322; 996; "PROGRESS", "PROGReSS", "PROGReSS_PrCa", "Prostate Cancer Group, Santiago, Spain"; ; rdfs:label "PROGReSS study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19513 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19513; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PROGReSS (n=996) Prostate cancer: Mechanisms of Progression and Treatment Santiago de Compostela, Spain Hospital- based, observational, prospective 322 674 465 21 995 1 0 174 0.5012" . _:44a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "Santiago de Compostela, Spain" . _:44a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000751"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226" . _:44a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892016"; "Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci."; "PMID:29892016", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "The PROGReSS study is founded by grants from the Spanish Ministry of Health (INT15/00070; INT16/00154; FIS PI10/00164, FIS PI13/02030; FIS PI16/00046); the Spanish Ministry of Economy and Competitiveness (PTA2014-10228-I) and Fondo Europeo de Desarrollo Regional (FEDER 2007-2013)." . _:44a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based, prospective, observational case-control study of prostate cancer at the Hospital Clínico Universitario de Santiago de Compostela, Galicia, Spain, whose cases are men with prostate cancer from that hospital and whose controls are cancer-free men from the same population, funded by the Spanish Ministry of Health; it is one of the PRACTICAL consortium studies genotyped in the prostate cancer OncoArray project."; "PMID:29892016", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 674; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PROGReSS (n=996) Prostate cancer: Mechanisms of Progression and Treatment Santiago de Compostela, Spain Hospital- based, observational, prospective 322 674 465 21 995 1 0 174 0.5012" . _:44ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 322; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PROGReSS (n=996) Prostate cancer: Mechanisms of Progression and Treatment Santiago de Compostela, Spain Hospital- based, observational, prospective 322 674 465 21 995 1 0 174 0.5012" . _:44ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 996; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "PROGReSS (n=996) Prostate cancer: Mechanisms of Progression and Treatment Santiago de Compostela, Spain Hospital- based, observational, prospective 322 674 465 21 995 1 0 174 0.5012" . _:44ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGRESS"; . _:44ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGReSS"; . _:44af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGReSS_PrCa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19525; , ; "PGS000137", "PMID:36355370"; "A prospective, longitudinal, multicentre observational cohort study in Australia, led from Flinders University in South Australia and enrolling since 2012, of people with suspected glaucoma (an optic disc suspicious of glaucoma or ocular hypertension) or early manifest primary open-angle glaucoma, who are genotyped and examined every six months with optical coherence tomography and visual field testing, to identify clinical and genetic predictors of glaucoma progression."; 2000; "PROGRESSA", "PROGRESSA study", "Progression Risk Of Glaucoma: RElevant SNPs with Significant Association", "Progression Risk Of Glaucoma; RElevant SNPs with Significant Association", "Progression Risk of Glaucoma: RElevant SNPs with Significant Association", "Progression Risk of Glaucoma: Relevant SNPs with Significant Association"; ; rdfs:label "Progression Risk of Glaucoma: Relevant SNPs With Significant Association"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19525 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19525; "primary open angle glaucoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35970205+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study combined a retrospective longitudinal analysis of suspect and early manifest primary open angle glaucoma cases from the Progression Risk of Glaucoma: RElevant SNPs with Significant Association (PROGRESSA) study with 2 replication cohorts from the UK Biobank and the Canadian Longitudinal Study of Ageing (CLSA)." . _:44b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9559075/fullTextXML"; rdfs:comment "The PROGRESSA study is a longitudinal, prospective, multicenter observational cohort study of patients with early glaucoma and patients with suspected glaucoma in Australia." . _:44b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000137"; "Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma."; "PMID:36355370" . _:44b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36355370"; "Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma."; "PMID:36355370", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36355370+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This cohort study used clinical and genetic data obtained from a longitudinal cohort study, Progression Risk of Glaucoma: Relevant SNPs With Significant Association (PROGRESSA)." . _:44b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, longitudinal, multicentre observational cohort study in Australia, led from Flinders University in South Australia and enrolling since 2012, of people with suspected glaucoma (an optic disc suspicious of glaucoma or ocular hypertension) or early manifest primary open-angle glaucoma, who are genotyped and examined every six months with optical coherence tomography and visual field testing, to identify clinical and genetic predictors of glaucoma progression."; "PMID:30517101", "PMID:36246177", "PMID:36249683"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000; "individuals with suspect or early manifest glaucoma (stated as a lower bound, '>2000'), 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9560531/fullTextXML"; rdfs:comment "The PROGRESSA study is a prospective longitudinal cohort study of >2000 individuals with suspect or early manifest glaucoma that was designed to investigate genetic and clinical associations with glaucoma progression (as previously described)." . _:44b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGRESSA"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-28. same cohort as review name E926. Same Santiago de Compostela, Spain prostate-cancer study as E926 (both PGS Catalog ids trace to the same PROGReSS entry in the same OncoArray consortium supplementary tables); see E926's note for the identity and naming caveat. Checked 2026-09-25: None: PROGReSS_PrCa is the PGS Catalog's id for the Santiago de Compostela prostate cancer study PROGReSS, the same study as E926 (PROGRESS). Both ids are recorded in papers on the prostate cancer OncoArray data, where the only PROGReSS is the hospital-based study at the Hospital Clínico Universitario de Santiago de Compostela. The Catalog's name for this id, 'Prostate Cancer Group, Santiago, Spain', is the study-group name the PGS000742 paper's table gives PROGReSS (PMID:33420416 supplement) and is kept as a synonym on E926. Same as E926; merge this placeholder (COHO:0002286) into E926's term (COHO:0002284), whose acronyms include PROGReSS_PrCa. Curated 2026-09-28: Merged into COHO:0002284 after confirming the same Spanish prostate study in the OncoArray source; both PGS ids and the source-attested study-group name are retained on the survivor. Replaced by COHO:0002284 (PROGReSS study), which now carries this term's names. Found by the checks of the placeholders' names against their sources recorded in the pipeline repository, completed 2026-09-28."@en; rdfs:label "obsolete Prostate Cancer Group, Santiago, Spain"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19533; , , , ; "PGS000666", "PMID:38109351"; "An international multicentre prospective cohort study in Australia and Belgium of young competitive endurance athletes aged 14 to 23, recruited from elite endurance sports programmes, and of matched non-athletes, who undergo echocardiography, cardiac MRI, ECG, exercise testing and Holter monitoring repeated over 20 years, to assess how training load and genotype determine exercise-induced cardiac remodelling and its consequences for performance, health and heart disease."; "PROspective ATHletic Heart study", "Pro@Heart", "Pro@Heart study", "Prospective Athlete’s Heart study", "Prospective Athletic Heart", "Prospective Athletic Heart study"; ; rdfs:label "Prospective Athletic Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19533 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19533; "training load"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11062611/fullTextXML"; rdfs:comment "These international multicenter prospective trials aimed to investigate the effect of training load and genotype on the variability of structural, functional, and electrical exercise-induced cardiac remodeling in elite competitive endurance athletes, and the full study protocol has been detailed." . _:44b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8935177/fullTextXML"; rdfs:comment "The Pro@Heart (Prospective Athlete’s Heart) study is an international multicentre prospective cohort trial with collaborators in Australia (Baker Heart and Diabetes Institute Melbourne, St Vincent’s Hospital Melbourne, University of Adelaide, Royal Adelaide Hospital, Royal Melbourne Hospital and Victor Chang Cardiac Research Institute) and Belgium (University Hospitals Leuven, University Hospital Antwerp and Jessa Hospital Hasselt)." . _:44b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000666"; "Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy."; "PMID:38109351" . _:44ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38109351"; "Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy."; "PMID:38109351", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11062611/fullTextXML"; rdfs:comment "The study cohort consisted of elite competitive endurance athletes from the Pro@Heart (Prospective Athletic Heart) and ProAFHeart (Prospective Atrial Fibrillation Athletic Heart) studies." . _:44bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international multicentre prospective cohort study in Australia and Belgium of young competitive endurance athletes aged 14 to 23, recruited from elite endurance sports programmes, and of matched non-athletes, who undergo echocardiography, cardiac MRI, ECG, exercise testing and Holter monitoring repeated over 20 years, to assess how training load and genotype determine exercise-induced cardiac remodelling and its consequences for performance, health and heart disease."; "PMID:35368514"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Pro@Heart"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19540; , ; "PMID:18835935"; "A registry of Gullah-speaking African American families from the Sea Islands and coastal low country of South Carolina, a population with little European admixture and high rates of type 2 diabetes, run from the Division of Endocrinology of the Medical University of South Carolina. Between 1995 and 2003 it enrolled families with several members affected by type 2 diabetes (affected sibling, half-sibling or parent-child pairs, with their affected and unaffected relatives), identified with the help of medical clinics, churches and community organisations on the Sea Islands, and assessed them for medical, anthropometric and metabolic traits for genetic studies such as genome-wide linkage scans of type 2 diabetes and lipoprotein subclasses."; 1321; "Project SuGAR", "Project SuGAR registry", "Project Sugar", "Project_SuGAR", "The Sea Islands Genetic African American Registry", "project SuGAR"; rdfs:label "Sea Islands Genetic African American Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19540 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19540; "type 2 diabetes mellitus"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4215639/unicode"; rdfs:comment "Project SuGAR enlisted medical clinics, churches, and established organizations on the Sea Islands to aid in identifying patients with type 2 diabetes mellitus who belonged to families with multiple affected biological members." . _:44be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25279862+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1995 and 2003, 1321 Gullah African Americans with a high prevalence of diabetes mellitus from the South Carolina Sea Islands consented to and enrolled in the Sea Islands Genetic African American Registry (Project SuGAR)." . _:44bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18835935"; "Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR)."; "PMID:18835935", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2606883/fullTextXML"; rdfs:comment "Affected relative pairs with type 2 diabetes were recruited through the Sea Islands Genetic African American Registry (Project SuGAR)." . _:44c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of Gullah-speaking African American families from the Sea Islands and coastal low country of South Carolina, a population with little European admixture and high rates of type 2 diabetes, run from the Division of Endocrinology of the Medical University of South Carolina. Between 1995 and 2003 it enrolled families with several members affected by type 2 diabetes (affected sibling, half-sibling or parent-child pairs, with their affected and unaffected relatives), identified with the help of medical clinics, churches and community organisations on the Sea Islands, and assessed them for medical, anthropometric and metabolic traits for genetic studies such as genome-wide linkage scans of type 2 diabetes and lipoprotein subclasses."; "PMID:18835935", "PMID:19783527", "PMID:25279862"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1321; "Gullah African Americans enrolled 1995-2003"; "PMID:25279862"; rdfs:comment "Between 1995 and 2003, 1321 Gullah African Americans with a high prevalence of diabetes mellitus from the South Carolina Sea Islands consented to and enrolled in the Sea Islands Genetic African American Registry (Project SuGAR)." . _:44c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Project SuGAR"; . _:44c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Project Sugar"; . _:44c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Project_SuGAR"; . _:44c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "project SuGAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19550; , ; ; "PGS000741", "PMID:33623038"; "A UK prostate cancer study run from Cambridge as a National Cancer Research Institute and Medical Research Council collaborative linked to the ProtecT trial, which collected biological samples (including tissue and urine) and data from men with and without prostate cancer attending hospital outpatient clinics, for a bio-repository used to study the mechanisms of prostate cancer progression and treatment."; 786; 12; 798; "PROMPT", "ProMPT", "ProMPT study", "Prostate Cancer: Mechanisms of Progression and Treatment collaborative", "Prostate cancer : Mechanisms of progression and Treatment", "Prostate cancer : Mechanisms of progression and Treatment (UK)"; ; rdfs:label "Prostate Cancer: Mechanisms of Progression and Treatment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19550 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19550; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "ProMPT (n=798) Prostate Cancer: Mechanisms of Progression and Treatment Cambridge, UK Population- based 12 786 627 37 791 7 0 156 0.5924" . _:44c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "ProMPT (n=798) Prostate Cancer: Mechanisms of Progression and Treatment Cambridge, UK Population- based" . _:44c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:44c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "We would also like to acknowledge the support of the National Cancer Research Prostate Cancer: Mechanisms of Progression and Treatment (PROMPT) collaborative (grant code G0500966/75466) which has funded tissue and urine collections in Cambridge." . _:44ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK prostate cancer study run from Cambridge as a National Cancer Research Institute and Medical Research Council collaborative linked to the ProtecT trial, which collected biological samples (including tissue and urine) and data from men with and without prostate cancer attending hospital outpatient clinics, for a bio-repository used to study the mechanisms of prostate cancer progression and treatment."; "PMID:27225428", "PMID:29892016", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 786; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "ProMPT (n=798) Prostate Cancer: Mechanisms of Progression and Treatment Cambridge, UK Population- based 12 786 627 37 791 7 0 156 0.5924" . _:44cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "ProMPT (n=798) Prostate Cancer: Mechanisms of Progression and Treatment Cambridge, UK Population- based 12 786 627 37 791 7 0 156 0.5924" . _:44cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 798; "study contribution in the 2021 OncoArray analysis, not whole recruitment (2021 analysis)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "ProMPT (n=798) Prostate Cancer: Mechanisms of Progression and Treatment Cambridge, UK Population- based 12 786 627 37 791 7 0 156 0.5924" . _:44ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROMPT"; . _:44cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProMPT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19561; , ; ; "PGS000777", "PMID:33958783"; "A hospital-based longitudinal cohort of patients with idiopathic Parkinson's disease, recruited from neurology clinics of university and regional hospitals in the western Netherlands across strata of age at onset and disease duration and examined mainly at Leiden University Medical Center, who were assessed on a broad range of motor and non-motor features at baseline in 2003-2005 and annually for five years, to profile the clinical course of the disease."; 420; "PROPARK", "PROPARK study", "PROfiling PARKinson's disease", "Profiling Parkinson's disease study", "SCOPA-PROPARK cohort"; ; rdfs:label "Profiling Parkinson's disease"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19561 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19561; "idiopathic Parkinson's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4893359/fullTextXML"; rdfs:comment "Patients were recruited from neurology clinics of university and regional hospitals in the western part of The Netherlands and all fulfilled the United Kingdom Parkinson’s disease Society Brain Bank criteria for idiopathic PD" . _:44d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4893359/fullTextXML"; rdfs:comment "Patients were recruited from neurology clinics of university and regional hospitals in the western part of The Netherlands and all fulfilled the United Kingdom Parkinson’s disease Society Brain Bank criteria for idiopathic PD" . _:44d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000777"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783" . _:44d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33958783"; "Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease."; "PMID:33958783", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8459648/"; rdfs:comment "HBS, Arizona Study of Aging/Brain and Body Donation Program, NET-PD LS1, CamPaIGN, PICNICS, DIGPD, PDBP, PIB, ParkWest, PROPARK and PROPARK-C cohorts comprised the discovery population and DATATOP, PPMI, PreCEPT and Tartu the replication population." . _:44d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based longitudinal cohort of patients with idiopathic Parkinson's disease, recruited from neurology clinics of university and regional hospitals in the western Netherlands across strata of age at onset and disease duration and examined mainly at Leiden University Medical Center, who were assessed on a broad range of motor and non-motor features at baseline in 2003-2005 and annually for five years, to profile the clinical course of the disease."; "PMID:27126456", "PMID:27717005"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 420; "patients with Parkinson's disease evaluated (PROPARK baseline, design reference)"; "PMID:17646625"; rdfs:comment "A cohort of 420 patients with PD was evaluated for the occurrence of AS, motor and nonmotor symptoms, as well as for demographic and disease-related characteristics." . _:44d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROPARK"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19569; , ; ; "PGS000044", "PMID:33420416"; "A randomised phase 3 trial in the United Kingdom in which men aged 50–69 registered at primary care centres in nine UK cities were invited for PSA testing (a pilot from 1999, the main phase from 2001 to 2009), men with a raised PSA were offered prostate biopsy, and those with clinically localised prostate cancer were randomly assigned to active monitoring, radical prostatectomy or radiotherapy, to investigate the effectiveness of treatments for localised prostate cancer."; 1643; "Prostate Testing for Cancer and Treatment study", "Prostate testing for cancer and Treatment trial", "ProtecT", "prostate testing for cancer and treatment study"; ; rdfs:label "Prostate testing for cancer and Treatment study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19569 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19569; "localised prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25163905+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ProtecT trial randomly assigned 1643 men with localised prostate cancer to active monitoring, radiotherapy, or surgery." . _:44d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25163905+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this randomised phase 3 trial, men aged 50-69 years registered at 337 primary care centres in nine UK cities were invited to attend a specialist nurse appointment for a serum prostate-specific antigen (PSA) test." . _:44d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000044"; "Reducing overdiagnosis by polygenic risk-stratified screening: findings from the Finnish section of the ERSPC."; "PMID:26291059" . _:44da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33420416"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8157993/unicode"; rdfs:comment "A testing set consisting of 6,411 men (4,828 controls and 1,583 cases) enrolled in the ProtecT clinical trial was set aside for estimating the performance of the final PHS models." . _:44db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised phase 3 trial in the United Kingdom in which men aged 50–69 registered at primary care centres in nine UK cities were invited for PSA testing (a pilot from 1999, the main phase from 2001 to 2009), men with a raised PSA were offered prostate biopsy, and those with clinically localised prostate cancer were randomly assigned to active monitoring, radical prostatectomy or radiotherapy, to investigate the effectiveness of treatments for localised prostate cancer."; "PMID:25163905"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1643; "men randomized to the three ProtecT treatment strategies, including pilot participants (1999–2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25163905+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The ProtecT trial randomly assigned 1643 men with localised prostate cancer to active monitoring, radiotherapy, or surgery." . _:44dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ProtecT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19577, _:genid-371333f489424440b12a13b9d98ced822608-genid19579; , ; ; "PGS000733", "PMID:32930425"; "A population-based case-control study of prostate cancer in Montreal, Quebec, Canada, in which men aged 75 or under with histologically confirmed prostate cancer diagnosed in 2005–2009 were ascertained across Montreal's French-language hospitals and controls were randomly selected from the provincial electoral list of French-speaking men, frequency-matched on age, and interviewed in person on sociodemographic, lifestyle, environmental and medical factors, with a genetic component."; 1937; 1995; "Montreal PROtEuS Study", "PROtEuS", "Prostate Cancer & Environment Study"; ; rdfs:label "Prostate Cancer and Environment Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19577 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19579 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19577; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6131535/fullTextXML"; rdfs:comment "The final sample for analysis consisted of 3,897 subjects, i.e., 1,916 prostate cancer cases and 1,985 population controls." . _:44df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19579; "environmental and lifestyle factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6131535/fullTextXML"; rdfs:comment "The Prostate Cancer & Environment Study (PROtEuS), described previously (Blanc-Lapierre et al., 2015), is a population-based case-control study conducted in Montreal, Canada, to assess the role of environmental and lifestyle factors in prostate cancer risk." . _:44e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24655933+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "PROtEuS (Prostate Cancer and Environment Study), a population-based case-control study set amongst the mainly French-speaking population in Montréal, Canada, was used to address study objectives." . _:44e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:44e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32930425"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8135907/unicode"; rdfs:comment "PROtEuS was supported financially through grants from the Canadian Cancer Society [13149, 19500, 19864, 19865] and the Cancer Research Society, in partnership with the Ministère de l'enseignement supérieur, de la recherche, de la science et de la technologie du Québec, and the Fonds de la recherche du Québec - Santé.PROtEuS would like to thank its collaborators and research personnel, and the urologists involved in subjects recruitment." . _:44e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of prostate cancer in Montreal, Quebec, Canada, in which men aged 75 or under with histologically confirmed prostate cancer diagnosed in 2005–2009 were ascertained across Montreal's French-language hospitals and controls were randomly selected from the provincial electoral list of French-speaking men, frequency-matched on age, and interviewed in person on sociodemographic, lifestyle, environmental and medical factors, with a genetic component."; "PMID:24655933", "PMID:30233396", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1937; "PROtEuS case and control study population in the own 2015 report (2005–2009 diagnoses)"; "https://doi.org/10.1186/s12889-015-2260-x"; rdfs:comment "The study population comprised 1937 cases (including 532 high-grade PCa) and 1995 controls." . _:44e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1995; "PROtEuS case and control study population in the own 2015 report (2005–2009 diagnoses)"; "https://doi.org/10.1186/s12889-015-2260-x"; rdfs:comment "The study population comprised 1937 cases (including 532 high-grade PCa) and 1995 controls." . _:44e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROtEuS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19588, _:genid-371333f489424440b12a13b9d98ced822608-genid19590, _:genid-371333f489424440b12a13b9d98ced822608-genid19592; , ; "PMID:38754871"; "A population-based case-control study of epithelial ovarian cancer conducted in Montreal, Canada, from 2011 to 2016, in which women aged 18–79 who were Canadian citizens living in the greater Montreal area, with incident borderline or invasive epithelial cancer of the ovary, fallopian tube or peritoneum identified at seven Montreal hospitals, and controls sampled from the Quebec electoral list and frequency-matched to them by age and region of Montreal, were interviewed in person."; 498; 908; "PROVAQ", "PRevention of OVArian Cancer in Quebec", "PRevention of OVArian cancer in Quebec", "Prevention of OVArian Cancer in Québec"; rdfs:label "Prevention of Ovarian Cancer in Quebec"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19588 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19590 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19592 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19588; "peritoneal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "Among 652 incident cases of histologically confirmed epithelial cancer of the ovary, fallopian tube, or peritoneum from 7 Montreal hospitals, 507 patients (78%) agreed to participate." . _:44e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19590; "fallopian tube cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "Among 652 incident cases of histologically confirmed epithelial cancer of the ovary, fallopian tube, or peritoneum from 7 Montreal hospitals, 507 patients (78%) agreed to participate." . _:44e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19592; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "Among 652 incident cases of histologically confirmed epithelial cancer of the ovary, fallopian tube, or peritoneum from 7 Montreal hospitals, 507 patients (78%) agreed to participate." . _:44ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "The Prevention of Ovarian Cancer in Quebec (PROVAQ) study is a population-based case-control study of female Canadian citizens aged 18-79 years conducted in Montreal, Canada, from 2011 to 2016." . _:44eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38754871"; "Predicted 25-hydroxyvitamin D over the adult lifetime and the risk of ovarian cancer."; "PMID:38754871", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "The Prevention of Ovarian Cancer in Quebec (PROVAQ) study is a population-based case-control study of female Canadian citizens aged 18-79 years conducted in Montreal, Canada, from 2011 to 2016." . _:44ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer conducted in Montreal, Canada, from 2011 to 2016, in which women aged 18–79 who were Canadian citizens living in the greater Montreal area, with incident borderline or invasive epithelial cancer of the ovary, fallopian tube or peritoneum identified at seven Montreal hospitals, and controls sampled from the Quebec electoral list and frequency-matched to them by age and region of Montreal, were interviewed in person."; "PMID:28102526", "PMID:38509513", "PMID:38754871"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 498; "Eligible PROVAQ cases and participating population controls, 2011-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "Nine cases were later identified as nonepithelial or metastatic, for a total of 498 cases." . _:44ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 908; "Eligible PROVAQ cases and participating population controls, 2011-2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11369219/fullTextXML"; rdfs:comment "Among 1634 eligible women invited to serve as controls, 908 (56%) agreed to participate." . _:44ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVAQ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19600; "PGS000010", "PMID:25748612"; "A double-blind randomised trial in patients hospitalised for an acute coronary syndrome within the preceding 10 days that compared standard statin therapy (pravastatin 40 mg daily) with intensive statin therapy (atorvastatin 80 mg daily), and long-term treatment with the antibiotic gatifloxacin with placebo, for the prevention of death and major cardiovascular events."; 4162; "PROVE IT", "PROVE IT-TIMI 22", "PROVE IT–TIMI 22", "PROVE-IT TIMI 22", "PROVEIT", "Pravastatin or Atorvastatin Evaluation and Infection Therapy"; ; rdfs:label "Pravastatin or Atorvastatin Evaluation and Infection Therapy-Thrombolysis In Myocardial Infarction 22"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19600 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19600; "acute coronary syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15007110+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We enrolled 4162 patients who had been hospitalized for an acute coronary syndrome within the preceding 10 days and compared 40 mg of pravastatin daily (standard therapy) with 80 mg of atorvastatin daily (intensive therapy)." . _:44f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000010"; "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials."; "PMID:25748612" . _:44f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25748612"; "Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials."; "PMID:25748612", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4608367/unicode"; rdfs:comment "A community-based cohort and four randomized controlled trials of both primary (JUPITER and ASCOT) and secondary (CARE and PROVE IT-TIMI 22) prevention with statin therapy totaling 48,421 individuals and 3,477 events were included in these analyses." . _:44f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A double-blind randomised trial in patients hospitalised for an acute coronary syndrome within the preceding 10 days that compared standard statin therapy (pravastatin 40 mg daily) with intensive statin therapy (atorvastatin 80 mg daily), and long-term treatment with the antibiotic gatifloxacin with placebo, for the prevention of death and major cardiovascular events."; "PMID:14980229", "PMID:15007110", "PMID:15843667"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4162; "PROVE IT-TIMI 22 randomized acute-coronary-syndrome patients"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15007110+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We enrolled 4162 patients who had been hospitalized for an acute coronary syndrome within the preceding 10 days and compared 40 mg of pravastatin daily (standard therapy) with 80 mg of atorvastatin daily (intensive therapy)." . _:44f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVE IT"; . _:44f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVE IT-TIMI 22"; . _:44f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVE IT–TIMI 22"; . _:44f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVE-IT TIMI 22"; . _:44f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROVEIT"; . a owl:NamedIndividual, ; , , ; "PMID:34246321"; "A collection of DNA samples and Epstein-Barr virus-transformed cell lines from healthy Japanese volunteers, recruited through the Pharma SNP Consortium in Tokyo, whose health was checked through the consortium; the samples were used for a database of SNPs and haplotypes in drug-related genes and as controls in genetic association studies of the Japanese population."; 1032; "PSC", "Pharma SNP consortium"; rdfs:label "Pharma SNP Consortium"@en . _:44fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3228237/fullTextXML"; rdfs:comment "A large number of control subjects (96.7%) was recruited through the Pharma SNP consortium (PSC) in Japan (http://www.jpma.or.jp/psc/frame-e.html)." . _:44fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34246321"; "Genome-wide association study reveals an association between the HLA-DPB1∗02:01:02 allele and wheat-dependent exercise-induced anaphylaxis."; "PMID:34246321", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8387458/"; rdfs:comment "We included a dataset of 924 and 435 healthy subjects from the Pharma SNP Consortium (PSC) as the discovery set and the Japan Biological Informatics Consortium (JBIC) as the replication set, resulting in a total of 1,359 control subjects." . _:44fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples and Epstein-Barr virus-transformed cell lines from healthy Japanese volunteers, recruited through the Pharma SNP Consortium in Tokyo, whose health was checked through the consortium; the samples were used for a database of SNPs and haplotypes in drug-related genes and as controls in genetic association studies of the Japanese population."; "PMID:15202072", "PMID:18199129", "PMID:22291604", "PMID:34246321"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:44fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1032; "healthy Japanese volunteers recruited for the consortium-approved SNP and haplotype study of drug-related genes (2004)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1216054/"; rdfs:comment "A total of 1,032 volunteers were recruited, and DNA samples from 752 subjects randomly selected from among these volunteers were used for the present study." . _:44fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The PGS Catalog id PSEU is not attached to any score or sample set in the Catalog's current data (REST /cohort/PSEU returns nothing; absent from cohort_papers.json), so the Catalog paper that used it could not be read; the identification of the sample rests on the name, which matches the restless legs syndrome sample of Emory University's Department of Neurology and Program in Sleep. The Program in Sleep at Emory University is a clinical sleep programme in Atlanta (United States), not a study. The only sample of that name found is the restless legs syndrome case-control collection of the Department of Neurology and Program in Sleep, which the RLS GWAS PMID:33239738 calls just 'Emory cohort' / 'US Emory' (1417 subjects, 696 RLS cases): a clinic's sample with no study name of its own, like the other place-named samples judged not to be cohorts (e.g. KULEUVEN, Toronto). The Catalog id presumably denotes that collection in an RLS polygenic score paper that could not be identified. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Program in Sleep at Emory University"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Perlegen Sciences genotyped discovery samples are the discovery sample of the psoriasis GWAS of the Collaborative Association Study of Psoriasis ('Perlegen Sciences (Mountain View, CA, USA) genotyped discovery samples', PMID:19169254). The Catalog's name describes that sample and is not carried over. Replaced by COHO:0001152 (Collaborative Association Study of Psoriasis), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Perlegen Sciences Genotyped Discovery Samples"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19616, _:genid-371333f489424440b12a13b9d98ced822608-genid19618; , , ; ; "PMID:22915813"; "An open cohort of female sex workers in Pumwani, Nairobi, Kenya, established in 1985 with follow-up visits twice a year and studied with the University of Nairobi and the University of Manitoba, in which a subgroup of women remain uninfected by HIV-1 despite heavy exposure through sex work; it is used to study natural resistance to HIV-1 infection, seroconversion and disease progression, including host genetic studies of HLA and other variants."; 3000; "PSWC", "Pumwani Sex Worker Cohort", "Pumwani cohort", "Pumwani sex worker Cohort", "Pumwani sex worker cohort", "Pumwani sex workers cohort"; rdfs:label "Pumwani Sex Workers Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19616 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19618 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:44ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19616; "HIV-1 infection"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3486297/"; rdfs:comment "The Pumwani sex worker cohort was established in Nairobi, Kenya, in 1985 (27, 48) and has become well known for a small group of women who remain seronegative and PCR negative to HIV despite repeated exposure through active high-risk sex work." . _:45002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19618; "repeated exposure to HIV through active high-risk sex work"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3486297/"; rdfs:comment "The Pumwani sex worker cohort was established in Nairobi, Kenya, in 1985 (27, 48) and has become well known for a small group of women who remain seronegative and PCR negative to HIV despite repeated exposure through active high-risk sex work." . _:45012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5795417/fullTextXML"; rdfs:comment "The Pumwani sex worker cohort in Kenya was established in 1985." . _:45022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22915813"; "A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani sex worker cohort."; "PMID:22915813", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22915813+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A subgroup of women enrolled in the Pumwani sex worker cohort remain seronegative and PCR negative for human immunodeficiency virus type 1 despite repeated exposure through high-risk sex work." . _:45032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open cohort of female sex workers in Pumwani, Nairobi, Kenya, established in 1985 with follow-up visits twice a year and studied with the University of Nairobi and the University of Manitoba, in which a subgroup of women remain uninfected by HIV-1 despite heavy exposure through sex work; it is used to study natural resistance to HIV-1 infection, seroconversion and disease progression, including host genetic studies of HLA and other variants."; "PMID:22915813", "PMID:24992306", "PMID:29295533", "PMID:9840285"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000; "sex workers enrolled 1985-2010 (stated as a lower bound, 'more than 3,000')"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3486297/"; rdfs:comment "From 1985 to 2010, more than 3,000 sex workers have been enrolled in the cohort." . _:45052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PSWC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19625; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "PMID:34910150"; "A large international prospective epidemiological cohort study, funded by the Population Health Research Institute (Hamilton, Canada) with Canadian research funders, that has recruited since 2002 adults aged 35 to 70 years, with their household members, from representative samples of urban and rural communities in low-, middle- and high-income countries on five continents (17 countries at first, 27 later), to examine how societal influences and social, behavioural, genetic and environmental factors relate to lifestyle, cardiovascular risk factors and chronic non-communicable diseases, above all cardiovascular disease. Participants give medical history, lifestyle, anthropometric and electrocardiogram data and blood stored for biochemistry and genetic analysis, and are followed up for at least 10 years for events and death."; 166762; "PURE", "PURE Study", "PURE study", "Prospective Urban Rural Epidemiology", "Prospective Urban and Rural Epidemiology", "Prospective Urban and Rural Epidemiology Study"; rdfs:label "Prospective Urban Rural Epidemiology study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19625 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19625; "cardiovascular diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24093842+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The PURE study was established to investigate associations between social, behavioural, genetic, and environmental factors and cardiovascular diseases in 17 countries." . _:45072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674745/fullTextXML"; rdfs:comment "Participating countries are 4 high-income countries (Canada, Saudi Arabia, Sweden, and United Arab Emirates), 12 middle-income countries (Argentina, Brazil, Chile, China, Colombia, Iran, Malaysia, Occupied Palestinian Territory, Philippines, Poland, South Africa, and Turkey) and 5 low-income countries (Bangladesh, India, Pakistan, Tanzania, and Zimbabwe)." . _:45082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34910150"; "Psychosocial Risk Factors and Cardiovascular Disease and Death in a Population-Based Cohort From 21 Low-, Middle-, and High-Income Countries."; "PMID:34910150", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8674745/fullTextXML"; rdfs:comment "This population-based cohort study used data from the Prospective Urban Rural Epidemiology study, collected between January 2003 and March 2021." . _:45092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A large international prospective epidemiological cohort study, funded by the Population Health Research Institute (Hamilton, Canada) with Canadian research funders, that has recruited since 2002 adults aged 35 to 70 years, with their household members, from representative samples of urban and rural communities in low-, middle- and high-income countries on five continents (17 countries at first, 27 later), to examine how societal influences and social, behavioural, genetic and environmental factors relate to lifestyle, cardiovascular risk factors and chronic non-communicable diseases, above all cardiovascular disease. Participants give medical history, lifestyle, anthropometric and electrocardiogram data and blood stored for biochemistry and genetic analysis, and are followed up for at least 10 years for events and death."; "PMID:19540385", "PMID:24093842", "PMID:34910150", "PMID:40519856"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:450a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 166762; "individuals aged 35-70 enrolled from the general population in 21 countries (as reported in 2023)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10361015/unicode"; rdfs:comment "In brief, the PURE Study is an ongoing large-scale epidemiological cohort study that has enrolled 166 762 individuals, 35–70 years of age, from the general population in 21 low-, middle-, and high-income countries on 5 continents (see Supplementary data online, Appendices S1 and S2)." . _:450b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PURE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19632, _:genid-371333f489424440b12a13b9d98ced822608-genid19634, _:genid-371333f489424440b12a13b9d98ced822608-genid19636; , ; "PMID:25389437"; "A familial cancer registry established in 2006 at the University of Puerto Rico Comprehensive Cancer Center, the first familial cancer registry in Puerto Rico, which enrols Hispanic individuals with a clinical or genetic diagnosis of a hereditary colorectal cancer or polyposis syndrome (familial adenomatous polyposis, attenuated FAP, hamartomatous polyposis syndromes or Lynch syndrome), referred with a personal or family history of possible familial colorectal cancer or polyposis by gastroenterologists, oncologists and colorectal surgeons. Consenting probands complete questionnaires on medical history, environmental exposures and cancer family history, their pedigrees are traced, and the registry offers affected families education, genetic testing and surveillance."; 31; "PURIFICAR", "Puerto Rico Familial Cancer Registry", "The Puerto Rico Familial Colorectal Cancer Registry"; rdfs:label "Puerto Rico Familial Colorectal Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19632 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19634 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:450c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19632; "Lynch syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4217335/fullTextXML"; rdfs:comment "Subjects enrolled in PURIFICAR are US Hispanic individuals with a clinical and/or genetic diagnosis of FAP, attenuated FAP (AFAP), hamartomatous polyposis syndromes, or Lynch syndrome." . _:450d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19634; "attenuated FAP"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4217335/fullTextXML"; rdfs:comment "Subjects enrolled in PURIFICAR are US Hispanic individuals with a clinical and/or genetic diagnosis of FAP, attenuated FAP (AFAP), hamartomatous polyposis syndromes, or Lynch syndrome." . _:450e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19636; "FAP"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4217335/fullTextXML"; rdfs:comment "Subjects enrolled in PURIFICAR are US Hispanic individuals with a clinical and/or genetic diagnosis of FAP, attenuated FAP (AFAP), hamartomatous polyposis syndromes, or Lynch syndrome." . _:450f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23460355+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "PURIFICAR is the first and only familial cancer registry in Puerto Rico providing these services to families affected with familial cancer syndromes promoting education, testing and surveillance of at-risk family members, and focusing on cancer prevention efforts." . _:45102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25389437"; "Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome."; "PMID:25389437", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25389437+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In this paper we report a novel mutation in the hMLH1 gene in a Puerto Rican Hispanic family with Lynch syndrome recruited through the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR)." . _:45112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A familial cancer registry established in 2006 at the University of Puerto Rico Comprehensive Cancer Center, the first familial cancer registry in Puerto Rico, which enrols Hispanic individuals with a clinical or genetic diagnosis of a hereditary colorectal cancer or polyposis syndrome (familial adenomatous polyposis, attenuated FAP, hamartomatous polyposis syndromes or Lynch syndrome), referred with a personal or family history of possible familial colorectal cancer or polyposis by gastroenterologists, oncologists and colorectal surgeons. Consenting probands complete questionnaires on medical history, environmental exposures and cancer family history, their pedigrees are traced, and the registry offers affected families education, genetic testing and surveillance."; "PMID:23460355", "PMID:25389437"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 31; "PURIFICAR FAP patients evaluated in the 2013 study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23460355+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 31 FAP (from 19 families) and 13 MAP (from 13 families) Hispanic patients recruited from the PURIFICAR were evaluated." . _:45132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PURIFICAR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19643, _:genid-371333f489424440b12a13b9d98ced822608-genid19645; , ; "PGS004909", "PMID:30815984"; "A smoking-cessation clinical trial run by the University of Kansas Medical Center in Kansas City, United States, from 2013 to 2017, in which adult non-Hispanic African American and White smokers of 3–20 cigarettes a day who wanted to quit were treated with varenicline, to study racial differences in quitting smoking and their causes."; "Q2L", "Quit 2 Live", "Quit-2-Live", "Understanding Disparities in Quitting in African American and White Smokers"; ; rdfs:label "Quit2Live"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19643 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19645 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19643; "cigarette smoking, 3–20 cigarettes per day"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4818177/unicode"; rdfs:comment "Eligible participants are non-Hispanic African American or White adults, 18 years of age or older who smoke 3–20 cigarettes per day on 25 days or more during the preceding month, and are interested in quitting smoking, taking varenicline for 3 months, have a functioning telephone, and are willing to complete all study-related requirements." . _:45152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19645; "tobacco dependence"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4818177/unicode"; rdfs:comment "Eligible participants are non-Hispanic African American or White adults, 18 years of age or older who smoke 3–20 cigarettes per day on 25 days or more during the preceding month, and are interested in quitting smoking, taking varenicline for 3 months, have a functioning telephone, and are willing to complete all study-related requirements." . _:45162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC8187466/unicode"; rdfs:comment "The Q2L participants were recruited exclusively from Kansas City." . _:45172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004909"; "Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity."; "PMID:30815984" . _:45182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30815984"; "Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity."; "PMID:30815984", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7527027/unicode"; rdfs:comment "A total of N = 196 treatment-seeking European-ancestry smokers were recruited to the Quit-2-Live (Q2L) clinical trial [NCT01836276], where ancestry was self-reported." . _:45192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A smoking-cessation clinical trial run by the University of Kansas Medical Center in Kansas City, United States, from 2013 to 2017, in which adult non-Hispanic African American and White smokers of 3–20 cigarettes a day who wanted to quit were treated with varenicline, to study racial differences in quitting smoking and their causes."; "PMID:33300144", "https://clinicaltrials.gov/api/v2/studies/NCT01836276"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:451a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Q2L"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19652, _:genid-371333f489424440b12a13b9d98ced822608-genid19654; , ; ; "PGS000339", "PMID:32716505"; "A population-based family and twin study of cutaneous melanoma in Queensland, Australia, begun in 1987, in which all Queensland residents with a first primary cutaneous melanoma diagnosed between 1982 and 1990, identified through the Queensland Cancer Registry, were sent a family-history questionnaire and familial cases, twins, a sample of non-familial cases and the cases' relatives were then studied, to investigate genetic susceptibility (skin type, pigmentation and naevi), solar ultraviolet exposure and their interaction in the aetiology of melanoma."; 2118; 15907; "QFMP", "Queensland familial melanoma project"; ; rdfs:label "Queensland Familial Melanoma Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19652 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19654 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:451b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19652; "cutaneous melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8791274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "After obtaining doctor's consent, a brief family history questionnaire was mailed to all Queensland residents with a first primary cutaneous melanoma diagnosed between 1982 and 1990." . _:451c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19654; "solar ultraviolet radiation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8791274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Queensland Familial Melanoma Project was undertaken to investigate (a) the role of genetic susceptibility as indicated by skin type, pigmentation and the prevalence of naevi and (b) exposure to solar ultraviolet radiation, and their interaction in the aetiology of familial melanoma." . _:451d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4065098/fullTextXML"; rdfs:comment "Samples were ascertained as part of the Queensland Familial Melanoma Project (QFMP), a population based study of melanoma in Queensland, Australia [26]." . _:451e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000339"; "Multiplex melanoma families are enriched for polygenic risk."; "PMID:32716505" . _:451f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32716505"; "Multiplex melanoma families are enriched for polygenic risk."; "PMID:32716505", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7566496/fullTextXML"; rdfs:comment "Family members with melanoma from the Queensland Familial Melanoma Project (QFMP) had significantly higher scores compared to both unrelated melanoma cases and healthy controls (Fig. 1)." . _:45202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based family and twin study of cutaneous melanoma in Queensland, Australia, begun in 1987, in which all Queensland residents with a first primary cutaneous melanoma diagnosed between 1982 and 1990, identified through the Queensland Cancer Registry, were sent a family-history questionnaire and familial cases, twins, a sample of non-familial cases and the cases' relatives were then studied, to investigate genetic susceptibility (skin type, pigmentation and naevi), solar ultraviolet exposure and their interaction in the aetiology of melanoma."; "PMID:8791274", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3677021/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2118; "QFMP family-study persons and melanoma index cases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8791274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The final sample comprises 15,907 persons in the 1,912 families of 2,118 melanoma cases, including 509 families in which there are two or more individuals with confirmed melanoma." . _:45222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15907; "QFMP family-study persons and melanoma index cases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8791274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The final sample comprises 15,907 persons in the 1,912 families of 2,118 melanoma cases, including 509 families in which there are two or more individuals with confirmed melanoma." . _:45232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QFMP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19663; , ; ; "PGS000770", "PMID:31649740"; "An observational family study launched at Laval University in Quebec City, Canada, in 1978 to investigate the role of genetic factors in physical fitness, body composition, risk factors for common diseases and health-related behaviour, which in 1979–1982 recruited nuclear families of French descent living mostly near Quebec City (with biological or adopted offspring) irrespective of body weight. As the study turned to the genetics of obesity, families ascertained through obese members were added in 1989–1997 and 1998–2002, and it has been used to study the familial and genetic determinants of obesity, body fat distribution and energy balance."; 1650; "QFS", "Québec Family Study"; ; rdfs:label "Quebec Family Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19663 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19663; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24533236+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort is a mixture of random sampling and ascertainment through obese individuals." . _:45252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3920031/fullTextXML"; rdfs:comment "The Quebec Family Study (QFS) was an observational study with three cycles of data collection between 1979 and 2002 in Quebec City, Canada." . _:45262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:45272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31649740"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31649740+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 231 single nucleotide polymorphisms (SNP) significantly associated to body mass index (BMI) from 21 genome-wide association studies were genotyped or imputed in 881 subjects from the Quebec Family Study (QFS)." . _:45282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational family study launched at Laval University in Quebec City, Canada, in 1978 to investigate the role of genetic factors in physical fitness, body composition, risk factors for common diseases and health-related behaviour, which in 1979–1982 recruited nuclear families of French descent living mostly near Quebec City (with biological or adopted offspring) irrespective of body weight. As the study turned to the genetics of obesity, families ascertained through obese members were added in 1989–1997 and 1998–2002, and it has been used to study the familial and genetic determinants of obesity, body fat distribution and energy balance."; "PMID:24533236"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1650; "individuals from 375 families recruited in phase 1 (1979-1982); obesity-ascertained families added in later phases are not counted"; "PMID:24533236"; rdfs:comment "In phase 1 of the study (1979 to 1982), a total of 1650 individuals from 375 families (nuclear families with biological or adopted offspring and uncle/aunt when available) were recruited and assessed." . _:452a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QFS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19671, _:genid-371333f489424440b12a13b9d98ced822608-genid19673; , ; "PGS005397", "PMID:41990546"; "A research cohort of ever-smokers aged 55–74 at high clinical risk of lung cancer (a PLCOm2012norace risk of 2% or more) enrolled in the provincial multicentre pilot lung cancer screening program of Quebec, Canada, launched in 2021, who gave blood samples to the AIRS biobank at the IUCPQ and CUSM sites at their first or second screening visit and are followed for incident lung cancer after low-dose CT screening managed with Lung-RADS."; 2974; "QLCSP", "Quebec Lung Cancer Screening Program", "Quebec lung cancer screening program", "SYNERGIQC cohort"; ; rdfs:label "SYNERGIQC"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:452b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19671; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13096907/fullTextXML"; rdfs:comment "SYNERGIQC originates from the Quebec lung cancer screening program [17], a provincial multicenter pilot-study launched in 2021 for ever-smokers aged 55–74." . _:452c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19673; "ever-smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13096907/fullTextXML"; rdfs:comment "SYNERGIQC originates from the Quebec lung cancer screening program [17], a provincial multicenter pilot-study launched in 2021 for ever-smokers aged 55–74." . _:452d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13096907/fullTextXML"; rdfs:comment "We leverage two prospective cohorts: UK Biobank (UKB) participants meeting screening eligibility criteria, and SYNERGIQC [17] cohort, derived from a lung cancer screening initiative in the province of Quebec." . _:452e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005397"; "Clinical usefulness of polygenic risk scores in risk prediction models for lung cancer screening and lung nodule management."; "PMID:41990546" . _:452f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41990546"; "Clinical usefulness of polygenic risk scores in risk prediction models for lung cancer screening and lung nodule management."; "PMID:41990546", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13096907/fullTextXML"; rdfs:comment "SYNERGIQC originates from the Quebec lung cancer screening program [17], a provincial multicenter pilot-study launched in 2021 for ever-smokers aged 55–74." . _:45302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research cohort of ever-smokers aged 55–74 at high clinical risk of lung cancer (a PLCOm2012norace risk of 2% or more) enrolled in the provincial multicentre pilot lung cancer screening program of Quebec, Canada, launched in 2021, who gave blood samples to the AIRS biobank at the IUCPQ and CUSM sites at their first or second screening visit and are followed for incident lung cancer after low-dose CT screening managed with Lung-RADS."; "PMID:41990546"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2974; "high-risk ever-smokers of the Quebec screening programme who gave blood samples to the AIRS biobank for the SYNERGIQC project"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13096907/fullTextXML"; rdfs:comment "From this high-risk group, participants were selected for the SYNERGIQC project, 2974 provided blood samples for research purposes to the AIRS biobank at the IUCPQ and CUSM sites." . _:45322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QLCSP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19681; , ; , ; "PGS000742", "PMID:33623038"; "A case-control study of prostate cancer in Queensland, Australia, contributed to the PRACTICAL consortium, whose cases were men with histopathologically confirmed prostate cancer recruited through urologists in Queensland from the Retrospective Queensland Study, the ProsCan (Prostate Cancer Supportive Care and Patient Outcomes Project) cohort of men newly diagnosed at 26 private practices and 10 public hospitals, and the Queensland node of the Australian Prostate Cancer BioResource. Its controls were healthy men with no personal history of prostate cancer, recruited through the Australian Red Cross Blood Service in Brisbane or, matched to the cases by age and postcode, through the Australian Electoral Commission."; 3312; 1252; 4564; "QLD", "Retrospective Queensland Study"; ; rdfs:label "Queensland Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19681; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "QLD = A longitudinal cohort study (Prostate Cancer Supportive Care and Patient Outcomes Project: ProsCan)conducted in Queensland, through which men newly diagnosed with prostate cancer from 26 private practices and 10 public hospitals were directly referred to ProsCan at the time of diagnosis by their treating clinician (age range 43-88 years)." . _:45342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "QLD (n=4564) Queensland Study Brisbane, Australia Case-control" . _:45352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:45362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "The QLD team would like to acknowledge and sincerely thank the urologists, pathologists, data managers and patient participants who have generously and altruistically supported the QLD cohort." . _:45372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of prostate cancer in Queensland, Australia, contributed to the PRACTICAL consortium, whose cases were men with histopathologically confirmed prostate cancer recruited through urologists in Queensland from the Retrospective Queensland Study, the ProsCan (Prostate Cancer Supportive Care and Patient Outcomes Project) cohort of men newly diagnosed at 26 private practices and 10 public hospitals, and the Queensland node of the Australian Prostate Cancer BioResource. Its controls were healthy men with no personal history of prostate cancer, recruited through the Australian Red Cross Blood Service in Brisbane or, matched to the cases by age and postcode, through the Australian Electoral Commission."; "PMID:22970239", "PMID:26992435", "PMID:29892016", "PMID:33398198"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3312; "men of the Queensland Study genotyped in the prostate cancer OncoArray project: controls and prostate cancer cases"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "QLD (n=4564) Queensland Study Brisbane, Australia Case-control 1252 3312" . _:45392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1252; "men of the Queensland Study genotyped in the prostate cancer OncoArray project: controls and prostate cancer cases"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "QLD (n=4564) Queensland Study Brisbane, Australia Case-control 1252 3312" . _:453a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4564; "men of the Queensland Study genotyped in the prostate cancer OncoArray project: controls and prostate cancer cases"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "QLD (n=4564) Queensland Study Brisbane, Australia Case-control 1252 3312" . _:453b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QLD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19691; , ; "PGS002252", "PMID:21655089"; "An open-label randomised phase 3 trial in which patients aged 18 or older who had undergone potentially curative surgery for stage III or high-risk stage II colorectal cancer were recruited at 170 hospitals in seven countries, led from the United Kingdom, between 2005 and 2010 and randomly assigned to adjuvant capecitabine alone or capecitabine plus bevacizumab, to test whether bevacizumab improves disease-free survival."; 1952; "Multicentre international study of capecitabine ± bevacizumab as adjuvant treatment of colorectal cancer", "QUASAR2", "QUick And Simple And Reliable trial", "Quick and Simple and Reliable trial"; ; rdfs:label "QUASAR 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19691 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:453c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19691; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3107194/"; rdfs:comment "VQ58 comprised 1,832 CRC cases (1,099 males, mean age of diagnosis 62.5 years; SD±10.9) from the VICTOR [12] and QUASAR2 (www.octo-oxford.org.uk/alltrials/trials/q2.html) trials." . _:453d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5098601/fullTextXML"; rdfs:comment "These trials recruited patients from throughout the United Kingdom." . _:453e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002252"; "Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study."; "PMID:35026030" . _:453f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21655089"; "Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer."; "PMID:21655089", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3107194/fullTextXML"; rdfs:comment "VQ58 comprised 1,832 CRC cases (1,099 males, mean age of diagnosis 62.5 years; SD±10.9) from the VICTOR [12] and QUASAR2 (www.octo-oxford.org.uk/alltrials/trials/q2.html) trials." . _:45402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open-label randomised phase 3 trial in which patients aged 18 or older who had undergone potentially curative surgery for stage III or high-risk stage II colorectal cancer were recruited at 170 hospitals in seven countries, led from the United Kingdom, between 2005 and 2010 and randomly assigned to adjuvant capecitabine alone or capecitabine plus bevacizumab, to test whether bevacizumab improves disease-free survival."; "PMID:27660192", "https://www.isrctn.com/api/query/format/default?q=ISRCTN45133151"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1952; "Eligible patients enrolled in QUASAR 2, 2005-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27660192+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between April 25, 2005, and Oct 12, 2010, 1952 eligible patients were enrolled, of whom 1941 had assessable data (968 in the capecitabine alone group and 973 in the capecitabine and bevacizumab group)." . _:45422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "QUASAR2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19699; ; , , , , , , , ; ; "PGS000138", "PMID:25903154"; "A collection of clinically ascertained depression samples genotyped together for genome-wide association studies of major depressive disorder, made up of the Depression Network (DeNT) study of sibling pairs with recurrent unipolar depression recruited at clinical sites in Europe and one in the United States, the Depression Case Control (DeCC) study of unrelated patients with recurrent depression recruited at three UK sites, and the Genome-Based Therapeutic Drugs for Depression (GENDEP) pharmacogenetic study."; 2434; 810; 3244; "RADIANT study", "Radiant study"; ; rdfs:label "RADIANT"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19699 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19699; "major depressive disorder"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6191533/fullTextXML"; rdfs:comment "RADIANT is an umbrella term for three studies which sought to understand genetic risk for MDD and factors affecting response to treatment; this comprised of the Depression Network (DeNT) study (Farmer et al., 2004), the Depression Case-Control (DeCC) study (Cohen-Woods et al., 2009) and the Genome-Based Therapeutic Drugs for Depression (GENDEP) study (Uher et al., 2009)." . _:45442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6191533/fullTextXML"; rdfs:comment "RADIANT is an umbrella term for three studies which sought to understand genetic risk for MDD and factors affecting response to treatment; this comprised of the Depression Network (DeNT) study (Farmer et al., 2004), the Depression Case-Control (DeCC) study (Cohen-Woods et al., 2009) and the Genome-Based Therapeutic Drugs for Depression (GENDEP) study (Uher et al., 2009)." . _:45452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC544588/"; rdfs:comment "Sibling pairs affected with recurrent unipolar depression were recruited from 8 clinical sites: Aarhus, Denmark; Bonn, Germany; Dublin, Ireland; Lausanne, Switzerland; St Louis, USA and London, Cardiff and Birmingham, UK." . _:45462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5537566/fullTextXML"; rdfs:comment "The DeCC is a case–control study that recruited individuals from three UK sites (London, Cardiff and Birmingham)." . _:45472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4407390/fullTextXML"; rdfs:comment "The DeNT study is a family study which recruited sibling pairs affected with recurrent unipolar depression from eight clinical sites across Europe and one in the USA." . _:45482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000138"; "Minimal phenotyping yields genome-wide association signals of low specificity for major depression."; "PMID:32231276" . _:45492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25903154"; "A genetic risk score combining 32 SNPs is associated with body mass index and improves obesity prediction in people with major depressive disorder."; "PMID:25903154", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4407390/fullTextXML"; rdfs:comment "A total of 3,244 participants (2,434 depressed patients and 810 healthy controls) were recruited from the Radiant study, which included the Depression Network (DeNT) study [14], the Depression Case–Control (DeCC) study [15], and the Genome-Based Therapeutic Drugs for Depression (GENDEP) study [16]." . _:454a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of clinically ascertained depression samples genotyped together for genome-wide association studies of major depressive disorder, made up of the Depression Network (DeNT) study of sibling pairs with recurrent unipolar depression recruited at clinical sites in Europe and one in the United States, the Depression Case Control (DeCC) study of unrelated patients with recurrent depression recruited at three UK sites, and the Genome-Based Therapeutic Drugs for Depression (GENDEP) pharmacogenetic study."; "PMID:25903154", "PMID:28642257", "https://link.springer.com/article/10.1007/s00439-013-1370-8"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:454b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2434; "depressed patients and healthy controls recruited from the Radiant study (DeNT, DeCC and GENDEP), as a 2015 analysis reports them"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4407390/fullTextXML"; rdfs:comment "A total of 3,244 participants (2,434 depressed patients and 810 healthy controls) were recruited from the Radiant study, which included the Depression Network (DeNT) study [14], the Depression Case–Control (DeCC) study [15], and the Genome-Based Therapeutic Drugs for Depression (GENDEP) study [16]." . _:454c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 810; "depressed patients and healthy controls recruited from the Radiant study (DeNT, DeCC and GENDEP), as a 2015 analysis reports them"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4407390/fullTextXML"; rdfs:comment "A total of 3,244 participants (2,434 depressed patients and 810 healthy controls) were recruited from the Radiant study, which included the Depression Network (DeNT) study [14], the Depression Case–Control (DeCC) study [15], and the Genome-Based Therapeutic Drugs for Depression (GENDEP) study [16]." . _:454d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3244; "depressed patients and healthy controls recruited from the Radiant study (DeNT, DeCC and GENDEP), as a 2015 analysis reports them"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4407390/fullTextXML"; rdfs:comment "A total of 3,244 participants (2,434 depressed patients and 810 healthy controls) were recruited from the Radiant study, which included the Depression Network (DeNT) study [14], the Depression Case–Control (DeCC) study [15], and the Genome-Based Therapeutic Drugs for Depression (GENDEP) study [16]." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19711, _:genid-371333f489424440b12a13b9d98ced822608-genid19713, _:genid-371333f489424440b12a13b9d98ced822608-genid19715; , ; , , ; "PGS000742", "PMID:29892016"; "A UK multicentre sample collection study, opened in 2005, that collects blood samples and prospectively recorded radiotherapy toxicity data from cancer patients, among them breast and prostate cancer patients, enrolled in radiotherapy clinical trials (such as RT01 and CHHiP) and other studies, to identify genetic variants that predict the adverse effects of radiotherapy on normal tissue."; "RAPPER", "Radiogenomics: Assessment of Polymorphisms for Predicting the effects of radiotherapy", "Radiogenomics: Assessment of polymorphisms for predicting the effects of radiotherapy"; ; rdfs:label "Radiogenomics: Assessment of Polymorphisms for Predicting the Effects of Radiotherapy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19711 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19713 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19715 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:454e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19711; "head and neck cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC12048210"; rdfs:comment "The RAPPER, RADIOGEN, GenePARE, UGhent, and CCI-EBRT Radiogenomics Consortium (RGC) cohorts included men with non-metastatic prostate cancer who received curative-intent external beam radiotherapy [EBRT], brachytherapy, or both, with or without surgery and/or anti-androgen therapy, described in published GWAS (15–17,20) and summarized in Table 1." . _:454f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19713; "breast cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC12048210"; rdfs:comment "The RAPPER, RADIOGEN, GenePARE, UGhent, and CCI-EBRT Radiogenomics Consortium (RGC) cohorts included men with non-metastatic prostate cancer who received curative-intent external beam radiotherapy [EBRT], brachytherapy, or both, with or without surgery and/or anti-androgen therapy, described in published GWAS (15–17,20) and summarized in Table 1." . _:45502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19715; "prostate cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC12048210"; rdfs:comment "The RAPPER, RADIOGEN, GenePARE, UGhent, and CCI-EBRT Radiogenomics Consortium (RGC) cohorts included men with non-metastatic prostate cancer who received curative-intent external beam radiotherapy [EBRT], brachytherapy, or both, with or without surgery and/or anti-androgen therapy, described in published GWAS (15–17,20) and summarized in Table 1." . _:45512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3419947/fullTextXML"; rdfs:comment "The RAPPER study (UKCRN1471) is a large UK sample collection study, opened in 2005, which recruits patients from clinical trials and other well-designed studies." . _:45522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:45532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892016"; "Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci."; "PMID:29892016", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "RAPPER Radiogenomics: Assessment of Polymorphisms for Predicting the Effects of Radiotherapy Manchester UK Multi-centre, hosptial based blood sample collection study in patients enrolled in clinical trials with prospective collection of radiotherapy toxicity data" . _:45542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK multicentre sample collection study, opened in 2005, that collects blood samples and prospectively recorded radiotherapy toxicity data from cancer patients, among them breast and prostate cancer patients, enrolled in radiotherapy clinical trials (such as RT01 and CHHiP) and other studies, to identify genetic variants that predict the adverse effects of radiotherapy on normal tissue."; "PMID:22767148", "PMID:27070714", "PMID:29892016"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RAPPER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19722; , ; ; "PGS001778", "PMID:22267197"; "A hospital-based breast cancer case-control study in the southwest of the Netherlands, whose cases are index patients from families with breast or breast and ovarian cancer counselled at the Clinical Genetics Centre of Erasmus University Medical Centre in Rotterdam from 1994, and whose geographically matched controls are women from cystic fibrosis families counselled at the same centre; it is one of the studies of the Breast Cancer Association Consortium."; 2751; 1159; "RBCS"; ; rdfs:label "Rotterdam Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19722 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19722; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "RBCS Rotterdam Breast Cancer Study 36 Netherlands Familial breast cancer patients selected from the clinical genetics center at Erasmus Medical Center between 1994-2005 Spouses or mutation-negative siblings of heterozygous Cystic Fibrosis mutation carriers selected from the clinical genetics centre at Erasmus Medical Center between 1996-2006" . _:45572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "RBCS Rotterdam Breast Cancer Study 36 Netherlands Familial breast cancer patients selected from the clinical genetics center at Erasmus Medical Center between 1994-2005 Spouses or mutation-negative siblings of heterozygous Cystic Fibrosis mutation carriers selected from the clinical genetics centre at Erasmus Medical Center between 1996-2006" . _:45582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:45592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22267197"; "Genome-wide association analysis identifies three new breast cancer susceptibility loci."; "PMID:22267197", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "RBCS Rotterdam Breast Cancer Study 36 Netherlands Familial breast cancer patients selected from the clinical genetics center at Erasmus Medical Center between 1994-2005 Spouses or mutation-negative siblings of heterozygous Cystic Fibrosis mutation carriers selected from the clinical genetics centre at Erasmus Medical Center between 1996-2006" . _:455a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based breast cancer case-control study in the southwest of the Netherlands, whose cases are index patients from families with breast or breast and ovarian cancer counselled at the Clinical Genetics Centre of Erasmus University Medical Centre in Rotterdam from 1994, and whose geographically matched controls are women from cystic fibrosis families counselled at the same centre; it is one of the studies of the Breast Cancer Association Consortium."; "PMID:22267197", "https://www.nature.com/articles/srep30026"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:455b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2751; "RBCS BRCA1/2-negative index cases counselled 1994-2014 and geographically matched control women counselled 1996-2010"; "https://www.nature.com/articles/srep30026"; rdfs:comment "RBCS cases (N = 2,751) were selected from the database of the Clinical Genetics Centre at Erasmus University Medical Centre in Rotterdam, representing the Southwestern part of the Netherlands." . _:455c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1159; "RBCS BRCA1/2-negative index cases counselled 1994-2014 and geographically matched control women counselled 1996-2010"; "https://www.nature.com/articles/srep30026"; rdfs:comment "The RBCS control population (N = 1,159) was geographically matched and included women from cystic fibrosis families who were either spouses of individuals at risk of being carrier of a CFTR mutation or individuals who were tested negative for a CFTR mutation and were counselled between 1996 and 2010." . _:455d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19731; , ; ; "PMID:22085902"; "A French national network for the genetic study of multiple sclerosis that since 1992 has recruited people with multiple sclerosis, with the parents and siblings of patients in trio and multiplex families, through physicians at hospital centres across France and through advertising campaigns run with patient associations, confirming each diagnosis by a network physician and collecting clinical information and a blood sample, and whose biological resource centre keeps DNA and cell lines for genetic studies of multiple sclerosis."; "BRC-REFGENSEP", "CRB-REFGENSEP", "Centre de Ressources Biologiques du Réseau Français d'Etude Génétique de la Sclérose en Plaques", "French MS Genetics group", "French Network for MS Genetics", "Multiple Sclerosis Genetics Study", "REFGENSEP", "Réseau Français d'Etude Génétique de la Sclérose en Plaques", "Réseau français de la génétique de la sclérose en plaques"; rdfs:label "Réseau Français de la Génétique de la Sclérose En Plaques"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19731 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:455e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19731; "multiple sclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38880029+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This sample was retrieved from REFGENSEP register of MS cases collected in 23 French hospital centers from 1992 to 2017." . _:455f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2770/MediaObjects/41588_2013_BFng2770_MOESM23_ESM.pdf"; rdfs:comment "The French MS Genetics group (REFGENSEP) has been prospectively collecting samples with twenty-three centers covering France." . _:45602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22085902"; "Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis."; "PMID:22085902", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3283173/"; rdfs:comment "Trio family samples were collected through REFGENSEP, whereas samples for multiplex families were obtained from both REFGENSEP and CCPGSMS." . _:45612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French national network for the genetic study of multiple sclerosis that since 1992 has recruited people with multiple sclerosis, with the parents and siblings of patients in trio and multiplex families, through physicians at hospital centres across France and through advertising campaigns run with patient associations, confirming each diagnosis by a network physician and collecting clinical information and a blood sample, and whose biological resource centre keeps DNA and cell lines for genetic studies of multiple sclerosis."; "PMID:21833088", "PMID:22085902", "PMID:24076602", "PMID:31961910", "PMID:38880029"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BRC-REFGENSEP"; . _:45632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CRB-REFGENSEP"; . _:45642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REFGENSEP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19739; , ; ; "PMID:37781316"; "A population-based study of cardiovascular disease in the province of Girona, north-eastern Spain, run by the REGICOR study group of the Hospital del Mar Research Institute, Barcelona. It began as a registry of patients with myocardial infarction in Girona, with data from 1978, and its population cohort, established in 1995 to study the prevalence and control of cardiovascular risk factors, novel risk factors and biomarkers of cardiovascular disease and cardiovascular risk prediction, combines participants of four surveys (1995, 2000, 2005 and 2018) randomly sampled from towns of the province and the city of Girona. Participants were re-examined, followed up for cardiovascular and other events and death, including by linkage to electronic health records, and genotyped, with other omics measured in subsets."; 11631; "Girona Heart Register", "REGICOR", "REGICOR Study", "REGICOR cohort", "REGICOR study", "REgistre GIroni del COr", "Registre GIroní del COR", "Registre Gironi del COR", "Registre Gironi del Cor", "Registre Gironí del Cor"; rdfs:label "Girona Heart Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19739 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19739; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12231538/fullTextXML"; rdfs:comment "population cohort was established to study cardiovascular (CV) risk factor prevalence and control, investigate novel risk factors associated with the incidence of CV diseases, and develop CV risk prediction models." . _:45662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12231538/fullTextXML"; rdfs:comment "The REGICOR cohort integrates the participants of four population-based surveys conducted in 1995, 2000, 2005, and 2018 in the Girona province (North-Eastern Spain), with a current reference population of approximately 790 000 inhabitants." . _:45672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37781316"; "Predictive capacity of a genetic risk score for coronary artery disease in assessing recurrences and cardiovascular mortality among patients with myocardial infarction."; "PMID:37781316", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10537937/fullTextXML"; rdfs:comment "In the REGICOR Study, follow-up was conducted through data linkage with population-based myocardial infarction records, official mortality registries, and telephone interviews." . _:45682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of cardiovascular disease in the province of Girona, north-eastern Spain, run by the REGICOR study group of the Hospital del Mar Research Institute, Barcelona. It began as a registry of patients with myocardial infarction in Girona, with data from 1978, and its population cohort, established in 1995 to study the prevalence and control of cardiovascular risk factors, novel risk factors and biomarkers of cardiovascular disease and cardiovascular risk prediction, combines participants of four surveys (1995, 2000, 2005 and 2018) randomly sampled from towns of the province and the city of Girona. Participants were re-examined, followed up for cardiovascular and other events and death, including by linkage to electronic health records, and genotyped, with other omics measured in subsets."; "PMID:16371198", "PMID:37781316", "PMID:40611603", "PMID:7588921"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11631; "REGICOR population cohort participants from four surveys, 1995-2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12231538/fullTextXML"; rdfs:comment "The REGICOR cohort includes 11 631 individuals (1748 in 1995, 3030 in 2000, 6308 in 2005, and 545 in 2018)." . _:456a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REGICOR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19746; , ; ; "PMID:40101186"; "A hospital-based case-control study of endometrial cancer in Sweden, whose patients underwent surgery for uterine cancer from 2008 at Karolinska University Hospital, Solna, in Stockholm, to which women of Stockholm County with newly diagnosed uterine cancer are referred, and gave blood and tumour samples, questionnaires on their own risk factors and on cancers in their families, and pedigrees in which cancers in relatives were verified from the Swedish Cancer Registry, medical records or death certificates where possible. Its cases were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; 520; "RENDOCAS", "Registry of Endometrial Cancer in Stockholm"; rdfs:label "Registry of Endometrial Cancer in Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19746 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:456b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19746; "endometrial cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "Patients (n=520) who underwent surgery for endometrial cancer at Karolinska University hospital Solna, Sweden between 2008 and 2011 were included in the study." . _:456c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "Patients (n=520) who underwent surgery for endometrial cancer at Karolinska University hospital Solna, Sweden between 2008 and 2011 were included in the study." . _:456d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40101186"; "A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk."; "PMID:40101186", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13537468/fullTextXML"; rdfs:comment "Patients within the first cohort, RENDOCAS (n = 555), underwent surgery for EC at the Karolinska University Hospital between 2008 and 2011 [11]." . _:456e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of endometrial cancer in Sweden, whose patients underwent surgery for uterine cancer from 2008 at Karolinska University Hospital, Solna, in Stockholm, to which women of Stockholm County with newly diagnosed uterine cancer are referred, and gave blood and tumour samples, questionnaires on their own risk factors and on cancers in their families, and pedigrees in which cancers in relatives were verified from the Swedish Cancer Registry, medical records or death certificates where possible. Its cases were genotyped in the genome-wide association studies of the Endometrial Cancer Association Consortium."; "PMID:24851142", "PMID:27135401", "PMID:40101186"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:456f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 520; "RENDOCAS patients operated for endometrial cancer in 2008-2011 in the ECAC profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3562/MediaObjects/41588_2016_BFng3562_MOESM301_ESM.pdf"; rdfs:comment "Patients (n=520) who underwent surgery for endometrial cancer at Karolinska University hospital Solna, Sweden between 2008 and 2011 were included in the study." . _:45702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RENDOCAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19753; , , , , , , , , , , , , , , , , , , , , , , ; "PGS002654", "PMID:38533953"; "A multicentre, international, phase 3, randomized, double-blind, placebo-controlled trial (ACTG A5332) of pitavastatin calcium for the primary prevention of major adverse cardiovascular events in adults with HIV on antiretroviral therapy and at low-to-moderate traditional cardiovascular risk, which enrolled participants from 2015 to 2019 at sites in 12 countries across five Global Burden of Disease regions."; 7769; "A5332", "REPRIEVE"; ; rdfs:label "Randomized Trial to Prevent Vascular Events in HIV"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19753 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19753; "HIV"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11979587/fullTextXML"; rdfs:comment "Relevant inclusion criteria include diagnosis of HIV; low-to-moderate risk of atherosclerotic cardiovascular disease (ASCVD); receipt of stable ART; CD4+ count >100 cells/μL; and satisfaction of laboratory thresholds including estimated glomerular filtration rate (eGFR) ≥60 mL/minute/1.73 m2." . _:45722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11979587/fullTextXML"; rdfs:comment "Sites were located in 5 global burden of disease (GBD) regions spanning 12 countries: high-income countries (Canada, United States excluding Puerto Rico, Spain); Latin America and Caribbean (Brazil, Haiti, Peru, Puerto Rico); sub-Saharan Africa (Botswana, South Africa, Uganda, Zimbabwe); Southeast Asia (Thailand); and South Asia (India)." . _:45732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002654"; "Polygenic Scores and Preclinical Cardiovascular Disease in Individuals With HIV: Insights From the REPRIEVE Trial."; "PMID:38533953" . _:45742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38533953"; "Polygenic Scores and Preclinical Cardiovascular Disease in Individuals With HIV: Insights From the REPRIEVE Trial."; "PMID:38533953", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38533953+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "PRSs for CAD (GPSMult) and lipid traits were calculated in a global cohort of people with HIV treated with antiretroviral therapy with low-to-moderate atherosclerotic cardiovascular disease risk enrolled in REPRIEVE (Randomized Trial to Prevent Vascular Events in HIV)." . _:45752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, international, phase 3, randomized, double-blind, placebo-controlled trial (ACTG A5332) of pitavastatin calcium for the primary prevention of major adverse cardiovascular events in adults with HIV on antiretroviral therapy and at low-to-moderate traditional cardiovascular risk, which enrolled participants from 2015 to 2019 at sites in 12 countries across five Global Burden of Disease regions."; "PMID:38533953", "PMID:39435321", "PMID:40207047"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7769; "REPRIEVE randomized people with HIV, 2015-2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11979587/fullTextXML"; rdfs:comment "Between March 2015 and July 2019, 7769 PWH were randomly allocated according to a 1:1 ratio to receive pitavastatin or placebo [21]." . _:45772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REPRIEVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19761, _:genid-371333f489424440b12a13b9d98ced822608-genid19763, _:genid-371333f489424440b12a13b9d98ced822608-genid19765; , , , , , , , , , ; ; "PMID:33178576"; "An international, prospective, observational cohort study, funded by the European Union's Seventh Framework Programme, that between April 2014 and March 2017 recruited patients with breast, prostate or lung cancer planned for potentially curative radiotherapy at 26 hospitals in eight countries in Europe and the United States. With standardised data collection across centres, it gathered pre-treatment blood samples, treatment and dosimetry data and physician- and patient-reported outcomes during follow-up of at least 12 (lung) or 24 (breast, prostate) months, in a centralised database and biobank with genotype data, as a resource for validating models and biomarkers, including genetic ones, that predict toxicity after radiotherapy."; 4438; "REQUITE", "REQUITE cohort study", "REQUITE study", "Validating Predictive Models and Biomarkers of Radiotherapy Toxicity to Reduce Side-Effects and Improve Quality of Life in Cancer Survivors", "validating pREdictive models and biomarkers of radiotherapy toxicity to reduce side effects and improve QUalITy of lifE in cancer survivors", "validating pREdictive models and biomarkers of radiotherapy toxicity to reduce side-effects and improve QUalITy of lifE in cancer survivors"; rdfs:label "REQUITE cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19761 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19763 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19765 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19761; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31146072+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Eligible patients had breast, prostate or lung cancer and planned potentially curable radiotherapy." . _:45792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19763; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31146072+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Eligible patients had breast, prostate or lung cancer and planned potentially curable radiotherapy." . _:457a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19765; "lung cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31146072+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Eligible patients had breast, prostate or lung cancer and planned potentially curable radiotherapy." . _:457b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7593843/fullTextXML"; rdfs:comment "Recruitment was at ten main sites in eight countries (Belgium, France, Germany, Italy, the Netherlands, Spain, UK, US)." . _:457c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33178576"; "A Deep Learning Approach Validates Genetic Risk Factors for Late Toxicity After Prostate Cancer Radiotherapy in a REQUITE Multi-National Cohort."; "PMID:33178576", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33178576+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A Deep Learning Approach Validates Genetic Risk Factors for Late Toxicity After Prostate Cancer Radiotherapy in a REQUITE Multi-National Cohort." . _:457d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international, prospective, observational cohort study, funded by the European Union's Seventh Framework Programme, that between April 2014 and March 2017 recruited patients with breast, prostate or lung cancer planned for potentially curative radiotherapy at 26 hospitals in eight countries in Europe and the United States. With standardised data collection across centres, it gathered pre-treatment blood samples, treatment and dosimetry data and physician- and patient-reported outcomes during follow-up of at least 12 (lung) or 24 (breast, prostate) months, in a centralised database and biobank with genotype data, as a resource for validating models and biomarkers, including genetic ones, that predict toxicity after radiotherapy."; "PMID:31146072", "PMID:33178576", "PMID:37862240"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:457e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4438; "breast, prostate and lung cancer patients recruited April 2014 to March 2017 (total patients in the cohort), 2014-2017"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7664984/unicode"; rdfs:comment "LeND ISE Cambridge REQUITE Total patients in cohort (n) 663 478 1144 4438" . _:457f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REQUITE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19772; , ; "PGS000350", "PMID:20835238"; "A population-based epidemiological study of eye disease, run by Icelandic and Japanese study groups, in which citizens of Reykjavik, Iceland, aged 50 years and older, randomly selected from the national population census, were given ophthalmological examinations to determine the prevalence of lens opacities, refractive error and visual acuity, and open-angle glaucoma."; 1045; "RES"; ; rdfs:label "Reykjavik Eye Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19772 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19772; "cataract"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11054002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A population-based cataract epidemiological study, the Reykjavik Eye Study, was conducted to determine the prevalence and characteristics of lens opacities in Iceland." . _:45812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11054002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A population-based cataract epidemiological study, the Reykjavik Eye Study, was conducted to determine the prevalence and characteristics of lens opacities in Iceland." . _:45822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:45832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20835238"; "Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma."; "PMID:20835238", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3222888/"; rdfs:comment "in 316 samples with IOP and CCT measurements without glaucoma from the Reykjavik Eye Study" . _:45842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based epidemiological study of eye disease, run by Icelandic and Japanese study groups, in which citizens of Reykjavik, Iceland, aged 50 years and older, randomly selected from the national population census, were given ophthalmological examinations to determine the prevalence of lens opacities, refractive error and visual acuity, and open-angle glaucoma."; "PMID:11054002", "PMID:11167223", "PMID:12928689"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1045; "randomly selected Reykjavik residents aged 50 and over who took part in the baseline examination"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11054002+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "1,635 randomly selected residents of Reykjavik, Iceland, were enrolled, and among them, 1,045 responded and took part in the study." . _:45862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19780; , ; "PGS000740", "PMID:28604730"; "A case-control study of lung cancer epidemiology run from Sheffield, England, since 2006, which recruits pathologically confirmed lung cancer cases diagnosed at age 60 or younger (or older with a family history of lung cancer) and family-matched controls through several cancer treatment centres, mostly in North Trent, collecting a lifestyle, occupational-exposure and family-history questionnaire and blood for DNA."; 689; 443; 1132; "RESOLUCENT", "ReSoLuCENT", "ReSoLucent", "Resolucent"; ; rdfs:label "The Resource for the Study of Lung Cancer Epidemiology in North Trent"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19780 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19780; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The study recruited pathologically confirmed lung cancer cases diagnosed at age 60 years or younger and family matched controls." . _:45882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "ReSoLucent ReSoLucent U. Sheffield, Woll UK Mixed CC 2005-2014" . _:45892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:458a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "The Resource for the Study of Lung Cancer Epidemiology in North Trent is an ongoing study conducted in Sheffield from 2006 and due to complete recruitment in 2016." . _:458b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of lung cancer epidemiology run from Sheffield, England, since 2006, which recruits pathologically confirmed lung cancer cases diagnosed at age 60 or younger (or older with a family history of lung cancer) and family-matched controls through several cancer treatment centres, mostly in North Trent, collecting a lifestyle, occupational-exposure and family-history questionnaire and blood for DNA."; "PMID:28604730"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:458c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 689; "unique ReSoLuCENT subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "ReSoLucent ReSoLucent U. Sheffield, Woll UK Mixed CC 2005-2014 689 443 1132" . _:458d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 443; "unique ReSoLuCENT subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "ReSoLucent ReSoLucent U. Sheffield, Woll UK Mixed CC 2005-2014 689 443 1132" . _:458e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1132; "unique ReSoLuCENT subjects submitted for OncoArray genotyping before quality control"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "ReSoLucent ReSoLucent U. Sheffield, Woll UK Mixed CC 2005-2014 689 443 1132" . _:458f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RESOLUCENT"; . _:45902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ReSoLuCENT"; . _:45912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ReSoLucent"; . _:45922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Resolucent"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19793; , , ; "PMID:32406072"; "A community-based prospective cohort in Taiwan made up of the participants of the REVEAL study who were seropositive for hepatitis B surface antigen: the REVEAL study enrolled residents aged 30 to 65 years from seven townships in Taiwan in 1991–1992, who gave blood samples, completed questionnaires and had health examinations at enrolment, and its HBsAg-seropositive participants were followed with blood collection and abdominal ultrasonography every 6–12 months and by linkage to the Taiwan National Cancer Registry and death certification, to study the risk factors for hepatocellular carcinoma in chronic hepatitis B virus carriers. Its sister cohort, REVEAL-HCV, followed the participants seropositive for antibodies to hepatitis C virus."; 4155; "REVEAL-HBV", "Risk Evaluation of Viral Load Elevation and Associated Liver Disease/Cancer-Hepatitis B Virus study"; rdfs:label "Risk Evaluation of Viral Load Elevation and Associated Liver Disease/Cancer-Hepatitis B Virus"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19793 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19793; "hepatocellular carcinoma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10548479/unicode"; rdfs:comment "To examine whether biomarkers of gut barrier dysfunction (i.e., anti-LPS, anti-flagellin, soluble CD14, and LPS-binding protein) are related to risk of HCC in chronic HBV and HCV carriers in an Asian population, we analyzed samples from the Risk Evaluation of Viral Load Elevation and Associated Liver Disease/Cancer (REVEAL)-HBV and -HCV cohorts of Taiwan." . _:45942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7529994/unicode"; rdfs:comment "Between 1991–1992, 23,820 participants aged 30 to 65 years old from seven townships in Taiwan enrolled in the study, completed questionnaires, and underwent health examinations." . _:45952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32406072"; "Prediagnostic concentrations of circulating bile acids and hepatocellular carcinoma risk: REVEAL-HBV and HCV studies."; "PMID:32406072", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7529994/unicode"; rdfs:comment "Thus, to examine circulating bile acids in relationship to risk of liver cancer, we leveraged the Risk Evaluation of Viral Load Elevation and Associated Liver Disease/Cancer (REVEAL)-HBV and -HCV cohorts from Taiwan." . _:45962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort in Taiwan made up of the participants of the REVEAL study who were seropositive for hepatitis B surface antigen: the REVEAL study enrolled residents aged 30 to 65 years from seven townships in Taiwan in 1991–1992, who gave blood samples, completed questionnaires and had health examinations at enrolment, and its HBsAg-seropositive participants were followed with blood collection and abdominal ultrasonography every 6–12 months and by linkage to the Taiwan National Cancer Registry and death certification, to study the risk factors for hepatocellular carcinoma in chronic hepatitis B virus carriers. Its sister cohort, REVEAL-HCV, followed the participants seropositive for antibodies to hepatitis C virus."; "PMID:29600553", "PMID:32406072", "PMID:36878686"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4155; "HBsAg-seropositive participants of the REVEAL community cohort enrolled 1991-1992 and followed as REVEAL-HBV"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10548479/unicode"; rdfs:comment "Of the study enrollees, 4,155 (17.4%) were hepatitis B virus surface antigen (HBsAg) seropositive and were followed as part of the REVEAL-HBV study." . _:45982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REVEAL-HBV"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19800; , ; "PGS000351", "PMID:20403914"; "A population-based case-control study of prostate cancer run by the Cancer Council Victoria, which in 1994-1997 recruited men resident in Melbourne and Perth, Australia, who were diagnosed with prostate cancer before age 70, through the state cancer registries, together with controls identified from government electoral rolls and frequency-matched to the cases by age."; 798; 527; "RFPCS", "Risk Factors for Prostate Cancer Study of the Victoria Cancer Council"; ; rdfs:label "Risk Factors for Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19800 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19800; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3877662/"; rdfs:comment "The Risk Factors for Prostate Cancer Study (RFPCS) is a population-based case-control study of prostate cancer in Australia." . _:459a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.450/MediaObjects/41588_2009_BFng450_MOESM22_ESM.pdf"; rdfs:comment "MCCS/RFPCS/EOPCFS: Cancer Council Victoria, Melbourne, Australia" . _:459b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000351"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:459c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20403914"; "Comprehensive analysis of the cytokine-rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk."; "PMID:20403914", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20403914+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped rs2243250 and 11 tag single-nucleotide polymorphisms (SNPs) spanning 200 kb across the 5q31.1 region on 825 cases and 732 controls from the Risk Factors for Prostate Cancer Study." . _:459d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of prostate cancer run by the Cancer Council Victoria, which in 1994-1997 recruited men resident in Melbourne and Perth, Australia, who were diagnosed with prostate cancer before age 70, through the state cancer registries, together with controls identified from government electoral rolls and frequency-matched to the cases by age."; "PMID:19767753", "PMID:24386513", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.450/MediaObjects/41588_2009_BFng450_MOESM22_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:459e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 798; "RFPCS subset analyzed for NKX3.1 and IGF-I (2013 report)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3877662/"; rdfs:comment "A total of 798 cases and 527 controls were analyzed." . _:459f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 527; "RFPCS subset analyzed for NKX3.1 and IGF-I (2013 report)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3877662/"; rdfs:comment "A total of 798 cases and 527 controls were analyzed." . _:45a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RFPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19809; , , ; "PMID:25429064"; "A case-control genome-wide association study of type 2 diabetes in Han Chinese at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, in Shanghai, China, whose cases were patients with type 2 diabetes recruited from the hospital's outpatient departments and whose healthy controls were drawn from a glucose survey in Youyi community, Baoshan district, Shanghai; its genome-wide data were one of the Stage 1 studies of the 2015 meta-analysis of genome-wide association studies of adult height in East Asians."; 998; 1002; "RJ", "RJ Study", "RJ study", "RJ_study", "RuiJin T2D study"; rdfs:label "RuiJin T2D Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19809 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19809; "type 2 diabetes"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; rdfs:comment "The GWAS genotyped 804 type 2 diabetic patients recruited from outpatient departments of Ruijin Hospital, and 907 healthy controls were selected one glucose survey in Youyi community, Baoshan district, Shanghai" . _:45a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3142153/fullTextXML"; rdfs:comment "Our study represents the first GWAS of T2D with both discovery and replication sample sets recruited from Han Chinese men and women residing in Mainland China." . _:45a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25429064"; "Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci."; "PMID:25429064", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4351379/"; rdfs:comment "RJ study (RuiJin T2D study): the Key Laboratory for Endocrine and Metabolic Diseases of Ministry of Health (No.1994DP131044), the Sector Funds of Ministry of Health (No. 201002002), the National Key New Drug Creation and Manufacturing Program of Ministry of Science and Technology (No. 2012ZX09303006-001) and the National Natural Science Foundation of China (No. 81270877)." . _:45a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genome-wide association study of type 2 diabetes in Han Chinese at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, in Shanghai, China, whose cases were patients with type 2 diabetes recruited from the hospital's outpatient departments and whose healthy controls were drawn from a glucose survey in Youyi community, Baoshan district, Shanghai; its genome-wide data were one of the Stage 1 studies of the 2015 meta-analysis of genome-wide association studies of adult height in East Asians."; "PMID:21799836", "PMID:25429064", "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:45a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 998; "type 2 diabetes patients (cases) and healthy controls genotyped in the Ruijin Hospital GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3142153/fullTextXML"; rdfs:comment "The GWAS genotyped 998 T2D patients recruited from outpatient departments of Ruijin Hospital, and 1002 healthy controls obtained from one glucose survey in Youyi community, Baoshan district, Shanghai [29]." . _:45a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1002; "type 2 diabetes patients (cases) and healthy controls genotyped in the Ruijin Hospital GWAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3142153/fullTextXML"; rdfs:comment "The GWAS genotyped 998 T2D patients recruited from outpatient departments of Ruijin Hospital, and 1002 healthy controls obtained from one glucose survey in Youyi community, Baoshan district, Shanghai [29]." . _:45a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RJ"; . _:45a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RJ_study"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. The same Royal Marsden Hospital ovarian cancer collection as the PGS Catalog's RMH-OCS (review name E965), which already bore the study's name. Replaced by COHO:0002322 (Royal Marsden Hospital Ovarian Cancer Study), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Royal Marsden Hospital Study"@en; owl:deprecated true . a owl:NamedIndividual, ; ; "RMH-BCC"; ; rdfs:label "Royal Marsden Hospital Breast Cancer Cases"@en . _:45a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RMH-BCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19819; , ; ; "PGS000082", "PMID:19648919"; "A hospital-based collection of women with invasive epithelial ovarian cancer ascertained at the Royal Marsden Hospital, London, United Kingdom, whose cases were genotyped in the UK stage of the first genome-wide association studies of ovarian cancer and in studies of the Ovarian Cancer Association Consortium."; 165; "RMH", "RMH-OCS", "Royal Marsden Hospital Study", "Royal Marsden Hospital study"; ; rdfs:label "Royal Marsden Hospital Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19819 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19819; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "RMH Royal Marsden Hospital Ovarian Cancer Study UK: London Hospital" . _:45ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "RMH Royal Marsden Hospital Ovarian Cancer Study UK: London Hospital" . _:45ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:45ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19648919"; "A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2."; "PMID:19648919", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.424/MediaObjects/41588_2009_BFng424_MOESM8_ESM.pdf"; rdfs:comment "Number of Subjects1 Study Name Study abbreviation Study population Study type cases controls STAGE1 SEARCH Cambridge UK SEA UK Population based 1156 (36) - UKOPS (United Kingdom Ovarian Cancer Population Study) UKO UK Population based 522 (16) - Cancer Research UK familial ovarian Cancer Register FOCR UK Familial cancer register 47 (3) - Royal Marsden Hospital study RMH UK Hospital based 165 (18) - UK 58 Birth cohort 58 BC UK Cohort - 1436 UK Colorectal control NSCR UK Population based - 917 Subtotal 1890 (73) 2353 STAGE 2 Australian Cancer Study (ovarian cancer); Australian Ovarian Cancer Study AUS Australia Population based 1139 (5) 1166 (5) Diseases of the Ovary and their Evaluation" . _:45ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based collection of women with invasive epithelial ovarian cancer ascertained at the Royal Marsden Hospital, London, United Kingdom, whose cases were genotyped in the UK stage of the first genome-wide association studies of ovarian cancer and in studies of the Ovarian Cancer Association Consortium."; "PMID:19648919", "PMID:23513043", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 165; "ovarian cancer cases in the stage 1 UK GWAS (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.424/MediaObjects/41588_2009_BFng424_MOESM8_ESM.pdf"; rdfs:comment "Royal Marsden Hospital study RMH UK Hospital based 165 (18) -" . _:45b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RMH"; . _:45b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RMH-OCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19828, _:genid-371333f489424440b12a13b9d98ced822608-genid19830; , ; "PGS000722", "PMID:19050702"; "A collection of DNA samples from people with cancer, among them colorectal cancer patients, and from healthy people who were the spouses or unrelated friends of patients with malignancies, recruited from 1999 through the Institute of Cancer Research and the Royal Marsden Hospital NHS Trust in the United Kingdom for genetic epidemiological studies of cancer susceptibility."; 708; "RMHT", "Royal Marsden Hospital NHS Trust Family History and DNA Registry"; ; rdfs:label "Royal Marsden Hospital Trust/Institute of Cancer Research Family History and DNA Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19828 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19830 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19828; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3034195/fullTextXML"; rdfs:comment "Five hundred and four CRC cases (298 male) were ascertained through the National Study of Colorectal Cancer (NSCCG; Penegar, et al., 2007) and the Royal Marsden Hospital NHS Trust Family History and DNA Registry (RMHNHST)." . _:45b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19830; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3034195/fullTextXML"; rdfs:comment "Five hundred and four CRC cases (298 male) were ascertained through the National Study of Colorectal Cancer (NSCCG; Penegar, et al., 2007) and the Royal Marsden Hospital NHS Trust Family History and DNA Registry (RMHNHST)." . _:45b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1925111/fullTextXML"; rdfs:comment "Healthy individuals were recruited at centers throughout the UK as part of the National Cancer Research Network Trial (1999–2002), the Royal Marsden Hospital Trust/Institute of Cancer Research Family History and DNA Registry (1999–2004), or the National Study of Colorectal Cancer Genetics Trial (2004), all established within the United Kingdom." . _:45b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000722"; "Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers."; "PMID:32596635" . _:45b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19050702"; "Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk."; "PMID:19050702", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2607223/fullTextXML"; rdfs:comment "A total of 2838 healthy individuals were recruited as part of ongoing National Cancer Research Network genetic epidemiological studies, NSCCG (1219), the Genetic Lung Cancer Predisposition Study (GELCAPS) (1999–2004; n=911), and the Royal Marsden Hospital Trust/Institute of Cancer Research Family History and DNA Registry (1999–2004; n=708)." . _:45b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of DNA samples from people with cancer, among them colorectal cancer patients, and from healthy people who were the spouses or unrelated friends of patients with malignancies, recruited from 1999 through the Institute of Cancer Research and the Royal Marsden Hospital NHS Trust in the United Kingdom for genetic epidemiological studies of cancer susceptibility."; "PMID:17615053", "PMID:19050702", "PMID:20949628", "PMID:22076443"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 708; "healthy controls drawn from the registry for one study (subset), 2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2607223/fullTextXML"; rdfs:comment "A total of 2838 healthy individuals were recruited as part of ongoing National Cancer Research Network genetic epidemiological studies, NSCCG (1219), the Genetic Lung Cancer Predisposition Study (GELCAPS) (1999–2004; n=911), and the Royal Marsden Hospital Trust/Institute of Cancer Research Family History and DNA Registry (1999–2004; n=708)." . _:45b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RMHT"; . a owl:NamedIndividual, ; ; "RNSHTS"; ; rdfs:label "Royal North Shore Hospital Twins Study"@en . _:45ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RNSHTS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19839, _:genid-371333f489424440b12a13b9d98ced822608-genid19841; , , ; "PMID:39968102"; "A population-based cohort study of osteoarthritis and osteoporosis in Japan, established in 2005 to build epidemiological indices for skeletal diseases, whose participants were recruited from resident registration listings in three communities (urban Itabashi in Tokyo, and mountainous Hidakagawa and coastal Taiji in Wakayama Prefecture) for a baseline survey in 2005–2007 with radiographic examinations and questionnaires, and have been re-examined in follow-up surveys since."; 3040; "ROAD", "ROAD study", "Research on Osteoarthritis Against Disability", "Research on Osteoarthritis Against Disability study", "Research on Osteoarthritis/Osteoporosis Against Disability study"; rdfs:label "Research on Osteoarthritis/Osteoporosis Against Disability"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19839 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19841 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19839; "osteoarthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11834036/fullTextXML"; rdfs:comment "In 2005, we established a large-scale population-based OA cohort study called the Research on Osteoarthritis/Osteoporosis Against Disability (ROAD) with the goal of establishing epidemiologic indices to evaluate clinical evidence for the development of a disease-modifying treatment for skeletal diseases [6,7]." . _:45bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19841; "osteoporosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11834036/fullTextXML"; rdfs:comment "In 2005, we established a large-scale population-based OA cohort study called the Research on Osteoarthritis/Osteoporosis Against Disability (ROAD) with the goal of establishing epidemiologic indices to evaluate clinical evidence for the development of a disease-modifying treatment for skeletal diseases [6,7]." . _:45bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11834036/fullTextXML"; rdfs:comment "The ROAD study was a prospective investigation of OA conducted among population-based cohorts in various cities across Japan." . _:45be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39968102"; "Trends in knee osteoarthritis prevalence over a 10-year period in Japan: The ROAD study 2005-2015."; "PMID:39968102", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11834036/fullTextXML"; rdfs:comment "This study aimed to reveal trends in the prevalence and distribution of knee OA and symptomatic knee OA using cohorts from the ROAD study at the baseline survey and the fourth survey, which was conducted 10 years after the initial survey." . _:45bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of osteoarthritis and osteoporosis in Japan, established in 2005 to build epidemiological indices for skeletal diseases, whose participants were recruited from resident registration listings in three communities (urban Itabashi in Tokyo, and mountainous Hidakagawa and coastal Taiji in Wakayama Prefecture) for a baseline survey in 2005–2007 with radiographic examinations and questionnaires, and have been re-examined in follow-up surveys since."; "PMID:19410032", "PMID:39968102"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3040; "residents enrolled at the baseline survey in three communities (2005-2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11834036/fullTextXML"; rdfs:comment "We initially enrolled 3040 participants (1061 men and 1979 women; mean age 70.3 years; range 23–95 years) during the baseline period and have since conducted multiple follow-up surveys since 2005." . _:45c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19848; , ; ; "PMID:20081857"; "An observational study of patients with diabetes mellitus and of non-diabetic controls with no personal or first-degree family history of diabetes and with normal fasting glucose, recruited and evaluated by the Diabetes Center of Massachusetts General Hospital and the Division of Endocrinology and Metabolism of Brigham and Women's Hospital in Boston, United States, and assembled with support from Roche; its participants were genotyped for glycaemic-trait and type 2 diabetes association studies of the MAGIC consortium."; 616; 895; "Partners/Roche", "Partners/Roche cohort", "ROCHE", "Roche", "Roche Study"; rdfs:label "Partners/Roche Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19848 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19848; "type 2 diabetes"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3927411/"; rdfs:comment "We obtained fasting blood samples and measured HbA1c, GA, and direct LDL-C, as well as other parameters, in a multi-ethnic population of 616 male and female patients with type 2 diabetes and 895 non-diabetic controls." . _:45c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3927411/"; rdfs:comment "Patients with diabetes mellitus and non-diabetic control subjects, with no personal history or family history of diabetes in first degree relatives and with normal (< 6.1 mmol/l or 110 mg/dl) fasting glucose levels, were recruited and evaluated by the Diabetes Center, Massachusetts General Hospital and the Division of Endocrinology and Metabolism, Brigham and Women's Hospital as part of an observational study of diabetic and pre-diabetic subjects." . _:45c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20081857"; "Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge."; "PMID:20081857", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.521/MediaObjects/41588_2010_BFng521_MOESM16_ESM.pdf"; rdfs:comment "Roche Study: Details of the sample have been previously described." . _:45c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational study of patients with diabetes mellitus and of non-diabetic controls with no personal or first-degree family history of diabetes and with normal fasting glucose, recruited and evaluated by the Diabetes Center of Massachusetts General Hospital and the Division of Endocrinology and Metabolism of Brigham and Women's Hospital in Boston, United States, and assembled with support from Roche; its participants were genotyped for glycaemic-trait and type 2 diabetes association studies of the MAGIC consortium."; "PMID:19465013", "PMID:24296717", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.521/MediaObjects/41588_2010_BFng521_MOESM16_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 616; "patients with type 2 diabetes and non-diabetic controls with stored fasting blood samples, in the paper that describes the sample"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3927411/"; rdfs:comment "We obtained fasting blood samples and measured HbA1c, GA, and direct LDL-C, as well as other parameters, in a multi-ethnic population of 616 male and female patients with type 2 diabetes and 895 non-diabetic controls." . _:45c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 895; "patients with type 2 diabetes and non-diabetic controls with stored fasting blood samples, in the paper that describes the sample"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3927411/"; rdfs:comment "We obtained fasting blood samples and measured HbA1c, GA, and direct LDL-C, as well as other parameters, in a multi-ethnic population of 616 male and female patients with type 2 diabetes and 895 non-diabetic controls." . _:45c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROCHE"; . _:45c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Roche"; . a owl:NamedIndividual, ; ; "An ovarian cancer study in Rotterdam, the Netherlands, listed among the study groups of the Ovarian Cancer Association Consortium under the study code EMC and funded by the Dutch Cancer Society."; "ROCS"; ; rdfs:label "Rotterdam Ovarian Cancer Study"@en . _:45ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ovarian cancer study in Rotterdam, the Netherlands, listed among the study groups of the Ovarian Cancer Association Consortium under the study code EMC and funded by the Dutch Cancer Society."; "PMID:30054336", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9949586/supplementaryFiles"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:45cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19859, _:genid-371333f489424440b12a13b9d98ced822608-genid19861; , ; "PGS004896", "PMID:31537649"; "A cross-sectional study of diabetic kidney disease in patients with type 1 diabetes, begun in 2010 in Romania as the pilot study of the International Diabetic Nephropathy Consortium (InterDiane, built on the FinnDiane protocol), which examined patients at two centres in Bucharest and one in Craiova between 2010 and 2012, assessing renal status from urinary albumin excretion."; "RomDiane"; ; rdfs:label "Romanian Diabetic Nephropathy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19859 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19861 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19859; "diabetic nephropathy"; "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The aim of the study is to identify risk factors for diabetic nephropathy and other chronic complications in patients with T1D." . _:45cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19861; "type 1 diabetes"; "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The aim of the study is to identify risk factors for diabetic nephropathy and other chronic complications in patients with T1D." . _:45ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The Romanian Diabetic Nephropathy Study (RomDiane) was initiated in 2010 in Romania as the pilot study of the InterDiane Consortium." . _:45cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004896"; "Albuminuria-Related Genetic Biomarkers: Replication and Predictive Evaluation in Individuals with and without Diabetes from the UK Biobank."; "PMID:37446387" . _:45d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31537649"; "Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen."; "PMID:31537649", "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; rdfs:comment "The Romanian Diabetic Nephropathy Study (RomDiane) was initiated in 2010 in Romania as the pilot study of the InterDiane Consortium." . _:45d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study of diabetic kidney disease in patients with type 1 diabetes, begun in 2010 in Romania as the pilot study of the International Diabetic Nephropathy Consortium (InterDiane, built on the FinnDiane protocol), which examined patients at two centres in Bucharest and one in Craiova between 2010 and 2012, assessing renal status from urinary albumin excretion."; "PMID:31537649", "https://cdn-links.lww.com/permalink/jsn/c/jsn_30_10_2022_12_07_salem_2019030218_sdc1.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RomDiane"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19868; , ; ; "PGS002269", "PMID:26691988"; "A clinic-based series of patients with advanced age-related macular degeneration (choroidal neovascularisation, geographic atrophy, or one in each eye), recruited through ophthalmology clinics in Rotterdam, ascertained by fundus examination and optical coherence tomography and graded with a Wisconsin/modified International system, which contributed advanced-AMD cases, without intermediate-AMD cases or controls, to the genome-wide association study of the International AMD Genomics Consortium."; 125; "RotES", "Rotterdam Eye Study"; ; rdfs:label "Rotterdam-Clinic study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19868 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19868; "advanced age-related macular degeneration"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "Rotterdam Clinic NA NA Yes NA NA OCT Wisconsin/modified Int." . _:45d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002269"; "Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data."; "PMID:35149155" . _:45d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26691988"; "A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants."; "PMID:26691988", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The Rotterdam-Clinic study was supported by ZoNMW project number: 170885606, MDfonds, Landelijke Stichting voor Blinden en Slechtzienden (LSBS)." . _:45d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based series of patients with advanced age-related macular degeneration (choroidal neovascularisation, geographic atrophy, or one in each eye), recruited through ophthalmology clinics in Rotterdam, ascertained by fundus examination and optical coherence tomography and graded with a Wisconsin/modified International system, which contributed advanced-AMD cases, without intermediate-AMD cases or controls, to the genome-wide association study of the International AMD Genomics Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 125; "advanced AMD patients of the study in the IAMDGC GWAS after quality control (it contributed no intermediate AMD cases or controls), 2016"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "Rotterdam 10 102 13 0 0 125" . _:45d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RotES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19875; , ; ; "PGS001778", "PMID:25855707"; "A biobank at Roswell Park Cancer Institute in Buffalo, New York, that collects blood samples before treatment, clinical data and an epidemiological questionnaire from patients newly diagnosed with cancer at the institute and, as controls, from people with no personal history of cancer (family members and friends of patients and community members), and supplies them to cancer research studies."; "DBBR", "Data Bank and BioRepository", "RPCI", "RPCI Data Bank and Biorepository", "RPCI DataBank and BioRepository", "Roswell Park Cancer Institute"; ; rdfs:label "Roswell Park Cancer Institute Data Bank and BioRepository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19875 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19875; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3433139/fullTextXML"; rdfs:comment "Newly diagnosed cancer patients are asked to contribute specimens and data to the DBBR prior to treatment, and non-patients (family members and friends of patients and community members) with no personal history of cancer are also asked to participate in the DBBR as controls." . _:45da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3433139/fullTextXML"; rdfs:comment "We conducted a cross-sectional study including 75 healthy women, between 20 and 80 years of age, who participated in the Data Bank and BioRepository (DBBR) program at Roswell Park Cancer Institute (RPCI), Buffalo, NY, USA." . _:45db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:45dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25855707"; "Prediction of breast cancer risk based on profiling with common genetic variants."; "PMID:25855707", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Triple negative invasive breast cancer cases from incident cases recruited to the RPCI Data Bank and Biorepository." . _:45dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank at Roswell Park Cancer Institute in Buffalo, New York, that collects blood samples before treatment, clinical data and an epidemiological questionnaire from patients newly diagnosed with cancer at the institute and, as controls, from people with no personal history of cancer (family members and friends of patients and community members), and supplies them to cancer research studies."; "PMID:16985014", "PMID:21386992", "PMID:22969801"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DBBR"; . _:45df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RPCI"; . a owl:NamedIndividual, ; , , ; "PMID:28134330"; "A population-based observational cohort study in Rugao, a city in Jiangsu province, China, with two arms: a longevity arm that in 2007–2008 recruited long-lived residents aged 95 years and over together with population controls drawn at random from the resident registry, and an ageing arm that in 2014 randomly recruited residents aged 70–84 years from rural communities of Jiang'an Township by age and sex strata and is followed up longitudinally, both examined with structured questionnaires, physical examinations and blood samples to study longevity and ageing."; "RuLAS", "Rugao Longevity and Aging Study", "The Rugao Longevity and Ageing Study"; rdfs:label "Rugao Longevity and Ageing Study"@en . _:45e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5278549/fullTextXML"; rdfs:comment "All data used in this study were obtained from the RuLAS, a population-based observational two-arm cohort study performed in Rugao, a typical medium-sized city of Jiangsu province, China." . _:45e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28134330"; "Associations of triglyceride levels with longevity and frailty: A Mendelian randomization analysis."; "PMID:28134330", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5278549/fullTextXML"; rdfs:comment "Based on data from the Rugao Longevity and Ageing Study (RuLAS), we used MR analysis to determine whether the observational associations of triglyceride levels with the two ageing phenotypes, longevity and frailty, are causal." . _:45e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based observational cohort study in Rugao, a city in Jiangsu province, China, with two arms: a longevity arm that in 2007–2008 recruited long-lived residents aged 95 years and over together with population controls drawn at random from the resident registry, and an ageing arm that in 2014 randomly recruited residents aged 70–84 years from rural communities of Jiang'an Township by age and sex strata and is followed up longitudinally, both examined with structured questionnaires, physical examinations and blood samples to study longevity and ageing."; "PMID:28134330", "PMID:31906855"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RuLAS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The KoGES rural cohort was renamed the Cardiovascular Disease Association Study: 'the Cardiovascular disease association study (CAVAS) cohort (formerly RURAL cohort)' (PMC7670174). Replaced by COHO:0000629 (Cardiovascular Disease Association Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Rural cohort"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. RUSHMAP is not the university: in the source GWAS (Okbay et al. 2016, SSGAC well-being, depressive symptoms and neuroticism) it is the Rush Memory and Aging Project, which COHO already has as COHO:0000810. The supplement names it 'Rush University Medical Center - Memory and Aging Project' and 'Rush MAP' and thanks 'the study participants of the Rush Memory and Aging Project'. It is not ROSMAP (COHO:0000400): the Religious Orders Study is not part of this id. Add RUSHMAP as an acronym and the Catalog's and the paper's spellings as synonyms of COHO:0000810. The placeholder COHO:0002333 is then a duplicate. No COHO term carries RUSHMAP or 'Rush MAP', so there is no clash. Replaced by COHO:0000810 (Rush Memory and Aging Project), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Rush University Medical Centre- Memory and Aging Project"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19887; , ; "PGS000740", "PMID:26590902"; "A hospital-based case-control study of several cancer sites in Russia, whose lung cancer cases and controls have been genotyped for studies of inherited lung cancer susceptibility."; 497; 477; 974; "RUSS", "Russian Multi-Cancer-Case-Control Study"; ; rdfs:label "Russian Multi-Cancer Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19887 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19887; "lung cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4715236/"; rdfs:comment "RUSS Hospital-based Russia 497 (51.0) 477 (49.0) 974 (9.0)" . _:45e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4715236/"; rdfs:comment "RUSS Hospital-based Russia 497 (51.0) 477 (49.0) 974 (9.0)" . _:45e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:45e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26590902"; "Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci."; "PMID:26590902", "https://europepmc.org/api/getPdf?pmcid=PMC4715236"; rdfs:comment "A large pooled sample was assembled consisting of 10 independent case–control studies (Table 1): Mount-Sinai Hospital-Princess Margaret (MSH-PMH), Multiethnic Cohort, Liverpool Lung Project, Nurses’ Health Study and National Physicians Health Study, the European Prospective Investigation into Cancer and Nutrition (EPIC) Lung (3), the Prostate, Lung and Ovarian Cancer Screening Trial, Carotene and Retinol Efficacy Trial, Russian Multi-Cancer Case-Control Study, Melbourne Collaborative Cohort Study and Harvard Lung Cancer Study." . _:45e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of several cancer sites in Russia, whose lung cancer cases and controls have been genotyped for studies of inherited lung cancer susceptibility."; "PMID:26590902", "PMID:32393777"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 497; "Russian study lung-cancer contribution in the 2015 pooled analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4715236/"; rdfs:comment "RUSS Hospital-based Russia 497 (51.0) 477 (49.0) 974 (9.0)" . _:45ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 477; "Russian study lung-cancer contribution in the 2015 pooled analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4715236/"; rdfs:comment "RUSS Hospital-based Russia 497 (51.0) 477 (49.0) 974 (9.0)" . _:45eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 974; "Russian study lung-cancer contribution in the 2015 pooled analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4715236/"; rdfs:comment "RUSS Hospital-based Russia 497 (51.0) 477 (49.0) 974 (9.0)" . _:45ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RUSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19897; , ; ; "PGS000733", "PMID:31226226"; "A prospective population-based cohort of healthy male volunteers enrolled in San Antonio and South Texas since 2000 by the San Antonio Center of Biomarkers of Risk for Prostate Cancer of the National Cancer Institute's Early Detection Research Network, screened annually or biannually by digital rectal examination and serum prostate-specific antigen, with prostate biopsy recommended after an abnormal result, to study prostate cancer risk and its biomarkers."; 3880; "SABOR", "San Antonio Biomarkers of Risk", "San Antonio Center for Biomarkers of Risk of Prostate Cancer"; ; rdfs:label "San Antonio Center of Biomarkers of Risk for Prostate Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19897 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19897; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6685438/"; rdfs:comment "The SABOR study is a National Cancer Institute Early Detection Research Network-sponsored Clinical and Epidemiologic Validation Center that includes a multi-ethnic cohort of 3880 men from San Antonio and South Texas area without prior diagnosis of PCa (https://edrn.nci.nih.gov/protocols/52-san-antonio-center-of-biomarkers-of-risk-for)." . _:45ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SABOR (n=211) San Antonio Center of Biomarkers of Risk for Prostate Cancer San Antonio, USA Population- based cohort" . _:45ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:45f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31226226"; "A genome-wide association study of prostate cancer in Latinos."; "PMID:31226226", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7028127/fullTextXML"; rdfs:comment "SABOR is a cohort study which has been enrolling healthy male volunteers in San Antonio and South Texas area since 2001.22, 23 Participants were examined annually/biannually by digital rectal exam and serum prostate‐specific antigen level, and prostate biopsy was recommended for men with positive results." . _:45f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of healthy male volunteers enrolled in San Antonio and South Texas since 2000 by the San Antonio Center of Biomarkers of Risk for Prostate Cancer of the National Cancer Institute's Early Detection Research Network, screened annually or biannually by digital rectal examination and serum prostate-specific antigen, with prostate biopsy recommended after an abnormal result, to study prostate cancer risk and its biomarkers."; "PMID:16835332", "PMID:17169636", "PMID:30385837", "PMID:31226226"; "GPT-6 (OpenAI), 2026-09" . _:45f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3880; "SABOR men without prior prostate cancer in the ongoing screening cohort"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6685438/"; rdfs:comment "The SABOR study is a National Cancer Institute Early Detection Research Network-sponsored Clinical and Epidemiologic Validation Center that includes a multi-ethnic cohort of 3880 men from San Antonio and South Texas area without prior diagnosis of PCa (https://edrn.nci.nih.gov/protocols/52-san-antonio-center-of-biomarkers-of-risk-for)." . _:45f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SABOR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19905; , ; ; "PMID:27039371"; "A family study of Mexican Americans in San Antonio, Texas, United States, begun in 1991 as the San Antonio Family Diabetes Study to identify susceptibility genes for type 2 diabetes, which recruited low-income Mexican Americans with type 2 diabetes identified in the San Antonio Heart Study and their extended families, examined them repeatedly, and at its second recall added a gallbladder disease component and further families; with the San Antonio Family Heart Study it makes up the San Antonio Family Studies."; 906; "SAFDGS", "SAFDS", "San Antonio Family Diabetes Study", "San Antonio Family Diabetes/Gallbladder study"; rdfs:label "San Antonio Family Diabetes/Gallbladder Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19905 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19905; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16123354+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Evidence was previously reported of linkage to diabetes on 10q with suggestive evidence on 3p and 9p in a genome-wide scan of 440 individuals from 27 pedigrees ascertained through a single diabetic proband." . _:45f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4145406/"; rdfs:comment "The GAW18 data set was drawn from T2D-GENES Project 2, a complex pedigree-based study designed to identify low-frequency or rare variants that influence susceptibility to type 2 diabetes using information from whole genome sequencing (WGS) of 1043 individuals from 20 Mexican American pedigrees enriched for type 2 diabetes from San Antonio, Texas." . _:45f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4145406/"; rdfs:comment "These family data were obtained from two studies: the San Antonio Family Heart Study (SAFHS) and the San Antonio Family Diabetes/Gallbladder Study (SAFDGS), which are together referred to as the San Antonio Family Studies (SAFS)." . _:45f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27039371"; "GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans."; "PMID:27039371", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4818944/"; rdfs:comment "As a follow up, we examined genome-wide single nucleotide polymorphism data in an extended cohort of 1281 Mexican Americans from multigenerational families of the San Antonio Family Heart Study and the San Antonio Family Diabetes/Gallbladder Study." . _:45f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Mexican Americans in San Antonio, Texas, United States, begun in 1991 as the San Antonio Family Diabetes Study to identify susceptibility genes for type 2 diabetes, which recruited low-income Mexican Americans with type 2 diabetes identified in the San Antonio Heart Study and their extended families, examined them repeatedly, and at its second recall added a gallbladder disease component and further families; with the San Antonio Family Heart Study it makes up the San Antonio Family Studies."; "PMID:16123354", "PMID:16400619", "PMID:25519314"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:45f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 906; "members of 39 extended Mexican American pedigrees after the study's expansion"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16123354+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Subsequently, the study was expanded to include 906 individuals from 39 extended Mexican-American pedigrees, two additional examination cycles approximately 5.3 and 7.6 years after baseline, and genotypes for a new set of genome-wide markers." . _:45fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAFDGS"; . _:45fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAFDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19914; , ; ; "PGS005354", "PMID:25519314"; "A family study of Mexican Americans in San Antonio, Texas, begun in 1991, that recruited low-income Mexican Americans aged 40 to 60, selected at random without regard to disease from Mexican American census tracts, together with their extended families, and followed them with repeated examinations to study the genetic and environmental contributions to cardiovascular disease risk factors. With the San Antonio Family Diabetes/Gallbladder Study it makes up the San Antonio Family Studies."; 1236; "SAFHS", "The San Antonio Family Heart Study"; ; rdfs:label "San Antonio Family Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19914 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:45fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19914; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8901667+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Among Mexican Americans from San Antonio (Tex), we quantified the relative contributions of both genetic and environmental influences to a large panel of cardiovascular risk factors, including serum levels of lipids, lipoproteins, glucose, hormones, adiposity, and blood pressure." . _:45fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4145406/fullTextXML"; rdfs:comment "The SAFHS began in 1991 with 40- to 60-year-old low-income Mexican Americans, selected at random without regard to presence or absence of disease, who were almost exclusively from Mexican American census tracts in San Antonio, Texas [1]." . _:45fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4145406/fullTextXML"; rdfs:comment "These family data were obtained from two studies: the San Antonio Family Heart Study (SAFHS) and the San Antonio Family Diabetes/Gallbladder Study (SAFDGS), which are together referred to as the San Antonio Family Studies (SAFS)." . _:45ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005354"; "Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries."; "PMID:40778152" . _:46002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25519314"; "Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries."; "PMID:25519314", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4145406/"; rdfs:comment "gene expression measures from the San Antonio Family Heart Study (not distributed as part of the GAW18 data) were used to identify genes whose mRNA levels were correlated with blood pressure." . _:46012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of Mexican Americans in San Antonio, Texas, begun in 1991, that recruited low-income Mexican Americans aged 40 to 60, selected at random without regard to disease from Mexican American census tracts, together with their extended families, and followed them with repeated examinations to study the genetic and environmental contributions to cardiovascular disease risk factors. With the San Antonio Family Diabetes/Gallbladder Study it makes up the San Antonio Family Studies."; "PMID:25519314", "PMID:8901667"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1236; "Relatives of randomly ascertained probands and spouses in the original SAFHS report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8901667+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Members of 42 extended families were studied, including 1236 first-, second-, and third-degree relatives of randomly ascertained probands and their spouses." . _:46032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAFHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19923, _:genid-371333f489424440b12a13b9d98ced822608-genid19925; , ; ; "PGS000037", "PMID:29273806"; "A population-based cohort of children born in the province of Manitoba, Canada, in 1995, whose families were surveyed in 2002 about the child's health and home environment, with linkage to the child's health care records, and from which children with asthma or allergy and a random sample of children with neither were invited to a nested case-control study of the early-life genetic and environmental origins of asthma. It is one of the Canadian cohorts of the ALLERGEN consortium."; "The acronym SAGE also denotes Study of Addiction: Genetics and Environment (COHO:0000793) and Study of African Americans, Asthma, Genes and Environments (COHO:0000794); this term is Study of Asthma, Genes and the Environment."@en; 16320; "Canadian Childhood Cohorts: Study of Asthma Genes and Environment", "SAGE", "SAGE.AST", "Study of Asthma Genes and Environment", "Study of Asthma Genes and Environment Study", "Study of Asthma, Genetics and Environment"; ; rdfs:label "Study of Asthma, Genes and the Environment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19923 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19925 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19923; "home environmental exposures"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=19416140&retmode=xml"; rdfs:comment "Nested within the birth cohort is a case-control study, which was created to collect information on home environmental exposures from detailed surveys and home dust sampling" . _:46052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19925; "asthma"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=19416140&retmode=xml"; rdfs:comment "It is a general population-based cohort, composed of children at high and low risk for asthma, living in urban and rural environments in Manitoba, Canada." . _:46062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Study of Asthma Genes and Environment Study (SAGE5 ) is a population‐based sample of 16,320 children, born in the province of Manitoba, Canada in the year of 1995." . _:46072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:46082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Study of Asthma Genes and Environment Study (SAGE5 ) is a population‐based sample of 16,320 children, born in the province of Manitoba, Canada in the year of 1995." . _:46092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of children born in the province of Manitoba, Canada, in 1995, whose families were surveyed in 2002 about the child's health and home environment, with linkage to the child's health care records, and from which children with asthma or allergy and a random sample of children with neither were invited to a nested case-control study of the early-life genetic and environmental origins of asthma. It is one of the Canadian cohorts of the ALLERGEN consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:460a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16320; "children born in Manitoba in 1995 (population-based birth cohort from administrative records), 1995 births"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "The Study of Asthma Genes and Environment Study (SAGE5 ) is a population‐based sample of 16,320 children, born in the province of Manitoba, Canada in the year of 1995." . _:460b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAGE"; . _:460c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAGE.AST"; . a owl:NamedIndividual, ; , ; "PMID:32469308"; "A longitudinal study of healthy ageing at Stanford University in which cognitively unimpaired older adults, recruited through advertisements in the Bay Area, undergo neuropsychological assessment, brain imaging and fluid biomarker sampling, with a focus on medial temporal lobe function and episodic memory."; 212; "SAMS", "Stanford Aging & Memory Study", "Stanford Aging Memory Study"; rdfs:label "Stanford Aging and Memory Study"@en . _:460d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7259949/fullTextXML"; rdfs:comment "We recruited widely in the bay area through ads in newspapers, newsletters, and online (e.g., Facebook), with the following inclusion criteria: native English speaking, right-handed, and MRI compatible." . _:460e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32469308"; "Hippocampal and cortical mechanisms at retrieval explain variability in episodic remembering in older adults."; "PMID:32469308", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7259949/fullTextXML"; rdfs:comment "One hundred and five cognitively healthy older adults (aged 60–82 years; 65 female) participated as part of the Stanford Aging and Memory Study." . _:460f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal study of healthy ageing at Stanford University in which cognitively unimpaired older adults, recruited through advertisements in the Bay Area, undergo neuropsychological assessment, brain imaging and fluid biomarker sampling, with a focus on medial temporal lobe function and episodic memory."; "PMID:32469308", "PMID:33408146", "PMID:39528825"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 212; "cognitively unimpaired older adults enrolled, as reported in 2021 (the study is ongoing)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8055319/"; rdfs:comment "This study includes data from 153 CU (table 1; aged 60–88 years) of an initial 212 enrolled in the Stanford Aging and Memory Study (SAMS; see figure e-1 for participant flowchart, doi:10.5061/dryad.ngf1vhhrp)." . _:46112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAMS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19939; , ; "PGS004241", "PMID:26732427"; "A hospital-based case-control study of bladder cancer in Santiago, Spain, whose cases and controls were genotyped with TaqMan assays in a 2016 follow-up of genome-wide association studies of bladder cancer risk in individuals of European ancestry."; 306; 339; "SANBCS"; ; rdfs:label "Santiago Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19939 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19939; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4817084/bin/supp_ddv492_ddv492supp_Data.docx"; rdfs:comment "TaqMan Santiago Bladder Cancer Study (SANBCS) Hospital-based 306 68 30 - 92 83.7 21.4 339 65.7 18-97 83.8 63.3 case-control, Santiago, Spain" . _:46132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4817084/bin/supp_ddv492_ddv492supp_Data.docx"; rdfs:comment "TaqMan Santiago Bladder Cancer Study (SANBCS) Hospital-based 306 68 30 - 92 83.7 21.4 339 65.7 18-97 83.8 63.3 case-control, Santiago, Spain" . _:46142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004241"; "Potential utility of risk stratification for multicancer screening with liquid biopsy tests."; "PMID:37087533" . _:46152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26732427"; "Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry."; "PMID:26732427", "https://pmc.ncbi.nlm.nih.gov/articles/instance/4817084/bin/supp_ddv492_ddv492supp_Data.docx"; rdfs:comment "TaqMan Santiago Bladder Cancer Study (SANBCS) Hospital-based 306 68 30 - 92 83.7 21.4 339 65.7 18-97 83.8 63.3 case-control, Santiago, Spain" . _:46162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer in Santiago, Spain, whose cases and controls were genotyped with TaqMan assays in a 2016 follow-up of genome-wide association studies of bladder cancer risk in individuals of European ancestry."; "PMID:26732427"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:46172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 306; "bladder cancer cases and controls of the study used in the 2016 bladder cancer GWAS follow-up (Table S1 of PMID:26732427)"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4817084/bin/supp_ddv492_ddv492supp_Data.docx"; rdfs:comment "TaqMan Santiago Bladder Cancer Study (SANBCS) Hospital-based 306 68 30 - 92 83.7 21.4 339 65.7 18-97 83.8 63.3 case-control, Santiago, Spain" . _:46182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 339; "bladder cancer cases and controls of the study used in the 2016 bladder cancer GWAS follow-up (Table S1 of PMID:26732427)"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4817084/bin/supp_ddv492_ddv492supp_Data.docx"; rdfs:comment "TaqMan Santiago Bladder Cancer Study (SANBCS) Hospital-based 306 68 30 - 92 83.7 21.4 339 65.7 18-97 83.8 63.3 case-control, Santiago, Spain" . _:46192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SANBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19948; , ; "PMID:25273948"; "A prospective study begun in 1999 in Salzburg, Austria, to investigate genetic and environmental factors contributing to atherosclerotic vascular diseases, whose participants, healthy unrelated adults aged 39–67 years, were recruited through health screening programmes in large companies in and around the city of Salzburg and examined with carotid ultrasonography and laboratory measurements."; 1770; "SAPHIR", "SAPHIR cohort", "SAPHIR study", "Salzburg Atherosclerosis Prevention Program in Subjects at High Individual Risk"; rdfs:label "Salzburg Atherosclerosis Prevention Program in subjects at High Individual Risk"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19948 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:461a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19948; "atherosclerotic vascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4411770/fullTextXML"; rdfs:comment "The Salzburg Atherosclerosis Prevention Program in subjects at High Individual Risk (the SAPHIR study) has been initiated in 1999 as a prospective study that investigates genetic and environmental factors contributing to atherosclerotic vascular diseases [20]." . _:461b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4411770/fullTextXML"; rdfs:comment "Study participants were recruited by health screening programs in large companies in and around the city of Salzburg, Austria." . _:461c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25273948"; "Genetic polymorphisms at SIRT1 and FOXO1 are associated with carotid atherosclerosis in the SAPHIR cohort."; "PMID:25273948", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4411770/fullTextXML"; rdfs:comment "Eleven SNPs at SIRT1 and FOXO1 gene loci were genotyped in the SAPHIR cohort (n = 1742)." . _:461d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective study begun in 1999 in Salzburg, Austria, to investigate genetic and environmental factors contributing to atherosclerotic vascular diseases, whose participants, healthy unrelated adults aged 39–67 years, were recruited through health screening programmes in large companies in and around the city of Salzburg and examined with carotid ultrasonography and laboratory measurements."; "PMID:15715680", "PMID:25273948"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:461e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1770; "Healthy unrelated SAPHIR participants in the study profile"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4411770/fullTextXML"; rdfs:comment "The study comprises 1770 healthy unrelated Caucasian subjects (663 females and 1107 males aged 39-67 years)." . _:461f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAPHIR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19955; , ; "PGS004239", "PMID:27807919"; "A nationwide multicentre research registry of patients with autoimmune Addison's disease in Sweden, with enrolment from 2008, whose patients are clinically and immunologically characterised and give samples for clinical, immunological and genetic studies of the disease."; 813; "SAR"; ; rdfs:label "Swedish Addison Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19955 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19955; "autoimmune Addison disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27870550+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A cross-sectional, population-based study that included 660 AAD patients from the Swedish Addison Registry (2008-2014)." . _:46212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004239"; "A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies."; "PMID:37151110" . _:46222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27807919"; "Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease."; "PMID:27807919", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27807919+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry." . _:46232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide multicentre research registry of patients with autoimmune Addison's disease in Sweden, with enrolment from 2008, whose patients are clinically and immunologically characterised and give samples for clinical, immunological and genetic studies of the disease."; "PMID:27807919", "PMID:27870550", "PMID:29069385", "PMID:33574239"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 813; "adult patients with autoimmune Addison's disease in the registry, to whom the 2021 questionnaire was sent"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36721983+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Questionnaires were sent out from April to October 2021 to 813 adult patients with AAD in the Swedish Addison Registry." . _:46252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAR"; . a owl:NamedIndividual, ; ; "Saudi"; ; rdfs:label "Saudi Newborn Cohort"@en . _:46262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Saudi"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19963; "PGS000016", "PMID:33185476"; "A phase 4, multinational, randomised, double-blind, placebo-controlled trial of the TIMI Study Group, conducted in 25 countries, that enrolled people aged 40 and older with type 2 diabetes mellitus and either established cardiovascular disease or multiple cardiovascular risk factors and randomised them to the DPP-4 inhibitor saxagliptin or matching placebo, to evaluate the drug's cardiovascular safety and efficacy with a primary endpoint of cardiovascular death, myocardial infarction or ischaemic stroke."; 16492; "SAVOR-TIMI 53", "SAVOR-TIMI_53", "Saxagliptin Assessment of Vascular Outcomes Recorded in Patients with Diabetes Mellitus", "The Saxagliptin Assessment of Vascular Outcomes Recorded in Patients with Diabetes Mellitus"; ; rdfs:label "Saxagliptin Assessment of Vascular Outcomes Recorded in Patients with Diabetes Mellitus-Thrombolysis in Myocardial Infarction 53"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19963 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19963; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23992601+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 16,492 patients with type 2 diabetes who had a history of, or were at risk for, cardiovascular events to receive saxagliptin or placebo and followed them for a median of 2.1 years." . _:46282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000016"; "A polygenic risk score predicts atrial fibrillation in cardiovascular disease."; "PMID:35980763" . _:46292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33185476"; "Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients With Cardiometabolic Disease."; "PMID:33185476", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33185476+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Subjects who had consented for genetic testing and who were of European ancestry from the ENGAGE AF-TIMI 48 (Effective Anticoagulation with Factor Xa Next Generation in Atrial Fibrillation), SOLID-TIMI 52 (Stabilization of Plaques Using Darapladib), SAVOR-TIMI 53 (Saxagliptin Assessment of Vascular Outcomes Recorded in Patients with Diabetes Mellitus), PEGASUS-TIMI 54 (Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin), and FOURIER (Further Cardiovascular Outcomes Research With PCSK9 Inhibition in Patients With Elevated Risk) trials were included in this analysis." . _:462a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A phase 4, multinational, randomised, double-blind, placebo-controlled trial of the TIMI Study Group, conducted in 25 countries, that enrolled people aged 40 and older with type 2 diabetes mellitus and either established cardiovascular disease or multiple cardiovascular risk factors and randomised them to the DPP-4 inhibitor saxagliptin or matching placebo, to evaluate the drug's cardiovascular safety and efficacy with a primary endpoint of cardiovascular death, myocardial infarction or ischaemic stroke."; "PMID:22093196", "PMID:36474045"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:462b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16492; "SAVOR-TIMI 53 randomized patients with type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23992601+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 16,492 patients with type 2 diabetes who had a history of, or were at risk for, cardiovascular events to receive saxagliptin or placebo and followed them for a median of 2.1 years." . _:462c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAVOR-TIMI 53"; . _:462d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAVOR-TIMI_53"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19971; , ; , , ; "PGS002284", "PMID:31049640"; "A combined sample of South African Zulu type 2 diabetes cases and controls from Durban, South Africa, formed for genetic studies by aggregating the Durban Diabetes Study, a population-based cross-sectional study of urban Black African adults of Zulu descent, with the Durban Diabetes Case Control study, which added cases of the same ethnic group and locality who had type 2 diabetes and attended a diabetes clinic."; 2804; "Durban Diabetes Study (DDS) and the Durban Diabetes Case Control study (DCC)", "SAZ", "SZC", "South African Zulu cohort"; ; rdfs:label "South African Zulu"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19971 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:462e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19971; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6560001/fullTextXML"; rdfs:comment "South African Zulu individuals were type 2 diabetes cases and controls from two studies: the Durban Diabetes Study (DDS) and the Durban Diabetes Case Control study (DCC)." . _:462f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6560001/fullTextXML"; rdfs:comment "South African Zulu individuals were type 2 diabetes cases and controls from two studies: the Durban Diabetes Study (DDS) and the Durban Diabetes Case Control study (DCC)." . _:46302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6560001/fullTextXML"; rdfs:comment "South African Zulu individuals were type 2 diabetes cases and controls from two studies: the Durban Diabetes Study (DDS) and the Durban Diabetes Case Control study (DCC)." . _:46312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6560001/fullTextXML"; rdfs:comment "DDS was a population-based cross-sectional study of non-pregnant urban black African adults of Zulu descent, aged >18 years, residing in Durban, South Africa [15, 16]." . _:46322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002284"; "Transferability of genetic risk scores in African populations."; "PMID:35654908" . _:46332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31049640"; "Genome-wide association study of type 2 diabetes in Africa."; "PMID:31049640", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6560001/fullTextXML"; rdfs:comment "South African Zulu individuals were type 2 diabetes cases and controls from two studies: the Durban Diabetes Study (DDS) and the Durban Diabetes Case Control study (DCC)." . _:46342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A combined sample of South African Zulu type 2 diabetes cases and controls from Durban, South Africa, formed for genetic studies by aggregating the Durban Diabetes Study, a population-based cross-sectional study of urban Black African adults of Zulu descent, with the Durban Diabetes Case Control study, which added cases of the same ethnic group and locality who had type 2 diabetes and attended a diabetes clinic."; "PMID:31049640"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2804; "individuals surveyed in the combined South African Zulu cohort (1,204 from DDS and 1,600 from DCC)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9205766/fullTextXML"; rdfs:comment "Of the 2,804 individuals surveyed, 1,204 were from the DDS and 1,600 were from the DCC; more detailed information on the study design and quality controls has been published previously21,22." . _:46362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAZ"; . _:46372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SZC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19982; , ; , ; "PGS001778", "PMID:21632523"; "A hospital-based case-control study of breast cancer in Sheffield, United Kingdom, that recruited women with histologically confirmed breast cancer from the surgical outpatient clinics of the Royal Hallamshire Hospital, Sheffield, and Rotherham District Hospital from 1998 to 2005, and as controls women aged 50 to 60 attending the Sheffield mammography screening service in 2000–2004 whose mammograms showed no breast lesions, all resident in the Sheffield area and of northern European ancestry, for studies of genetic susceptibility to and survival from breast cancer."; "The acronym SBCS also denotes Shanghai Breast Cancer Study (COHO:0000795) and Spanish Bladder Cancer Study (COHO:0000797); this term is Sheffield Breast Cancer Study."@en; 1011; 1024; "SBCS", "SBCS_b"; ; rdfs:label "Sheffield Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19982 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19982; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3700940/fullTextXML"; rdfs:comment "The Sheffield Breast Cancer Study (SBCS) recruited histologically confirmed breast cancer patients from surgical outpatient clinics in the Royal Hallamshire Hospital, Sheffield and Rotherham District Hospital from 1998 to 2005." . _:46392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2876119/"; rdfs:comment "SBCS UK Hospital-based Women with pathologically confirmed breast cancer recruited from surgical outpatient clinics at the Royal Hallamshire Hospital, Sheffield, 1998–2002; cases are a mixture of prevalent and incident disease" . _:463a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:463b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21632523"; "A role for XRCC2 gene polymorphisms in breast cancer risk and survival."; "PMID:21632523", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21632523+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study genotyped 12 XRCC2 tagging single nucleotide polymorphisms (SNPs) in 1131 breast cancer cases and 1148 controls from the Sheffield Breast Cancer Study (SBCS), and examined their associations with breast cancer risk and survival by estimating ORs and HRs, and their corresponding 95% CIs." . _:463c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in Sheffield, United Kingdom, that recruited women with histologically confirmed breast cancer from the surgical outpatient clinics of the Royal Hallamshire Hospital, Sheffield, and Rotherham District Hospital from 1998 to 2005, and as controls women aged 50 to 60 attending the Sheffield mammography screening service in 2000–2004 whose mammograms showed no breast lesions, all resident in the Sheffield area and of northern European ancestry, for studies of genetic susceptibility to and survival from breast cancer."; "PMID:20520800", "PMID:23844225"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:463d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1011; "cases and controls whose samples were available for genotyping in the 2013 ATR/CHEK1 study (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3700940/fullTextXML"; rdfs:comment "Samples from 1011 cases and 1024 controls were available for genotyping." . _:463e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1024; "cases and controls whose samples were available for genotyping in the 2013 ATR/CHEK1 study (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3700940/fullTextXML"; rdfs:comment "Samples from 1011 cases and 1024 controls were available for genotyping." . _:463f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBCS"; . _:46402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBCS_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid19992, _:genid-371333f489424440b12a13b9d98ced822608-genid19994; , , ; , , ; "PMID:31157323"; "A population-based cohort study of breast cancer survivors in urban Shanghai, China, which enrolled women aged 20 to 75 years with newly diagnosed breast cancer identified through the Shanghai Cancer Registry between March 2002 and April 2006, about six months after diagnosis, and followed them in person at 18 months and 3, 5 and 10 years after diagnosis for cancer outcomes, health status, lifestyle and medication use."; 5042; "SBCSS"; rdfs:label "Shanghai Breast Cancer Survival Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid19992 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid19994 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19992; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6527440/fullTextXML"; rdfs:comment "Briefly, 5042 patients with newly diagnosed breast cancer, aged 20 to 75 years, were identified from the Shanghai Cancer Registry between March 2002 and April 2006 and enrolled in the SBCSS approximately 6 months after cancer diagnosis." . _:46422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid19994; "soy food intake"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2874068/"; rdfs:comment "Our study is the largest population-based study of breast cancer survival to date and was specifically designed to evaluate the influence of soy food intake on breast cancer outcomes." . _:46432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18928393+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SUBJECTS/SETTING/LOCATION: Subjects were 5046 women who participated in the SBCSS, conducted in urban Shanghai, China." . _:46442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31157323"; "Soy Food Consumption, Exercise, and Body Mass Index and Osteoporotic Fracture Risk Among Breast Cancer Survivors: The Shanghai Breast Cancer Survival Study."; "PMID:31157323", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6527440/fullTextXML"; rdfs:comment "This study used data from the Shanghai Breast Cancer Survival Study (SBCSS), a large population-based longitudinal cohort of 5042 breast cancer survivors." . _:46452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of breast cancer survivors in urban Shanghai, China, which enrolled women aged 20 to 75 years with newly diagnosed breast cancer identified through the Shanghai Cancer Registry between March 2002 and April 2006, about six months after diagnosis, and followed them in person at 18 months and 3, 5 and 10 years after diagnosis for cancer outcomes, health status, lifestyle and medication use."; "PMID:18409069", "PMID:31157323"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5042; "women with newly diagnosed breast cancer enrolled 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6527440/fullTextXML"; rdfs:comment "Briefly, 5042 patients with newly diagnosed breast cancer, aged 20 to 75 years, were identified from the Shanghai Cancer Registry between March 2002 and April 2006 and enrolled in the SBCSS approximately 6 months after cancer diagnosis." . _:46472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBCSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20001; , ; "PMID:25420145"; "A collection of patients with cervical artery dissection in Barcelona, Spain, which contributed patients of European origin, meeting the inclusion criteria of the CADISP study, to the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection and, from Hospital Vall d'Hebron, patients and controls to its follow-up sample."; "SCADC", "Spanish cervical artery dissection collection"; rdfs:label "Spanish Cervical Artery Dissection Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20001 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20001; "cervical artery dissection"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "To increase the sample size for genetic analyses, an independent sample of 501 CeAD patients of European origin was recruited between 2008 and 2010, in some CADISP centers and additional 12 centers in 7 European countries and the United States (Supplementary Fig. 2), applying the same inclusion criteria as for the CADISP study (Supplementary Fig. 1)." . _:46492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "Spain Hospital Vall d'Hebron Barcelona 17" . _:464a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25420145"; "Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "The Spanish cervical artery dissection collection has received funding from Spanish government (PI10/01212 and CP12/03298) and the European Union's Seventh Framework Programme (FP7/2007- 2013) under grant agreements #201024 and #202213 (European Stroke Network)." . _:464b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with cervical artery dissection in Barcelona, Spain, which contributed patients of European origin, meeting the inclusion criteria of the CADISP study, to the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection and, from Hospital Vall d'Hebron, patients and controls to its follow-up sample."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:464c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCADC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20007; ; , ; , , ; "PGS000877", "PMID:23202125"; "A combined sample of two Swedish population-based case-control studies of myocardial infarction from Stockholm, the Stockholm Coronary Atherosclerosis Risk Factor (SCARF) study and the Stockholm Heart Epidemiology Program (SHEEP), whose cases had a first confirmed myocardial infarction and whose controls had no history of myocardial infarction, analysed together in genetic studies of coronary artery disease and cardiometabolic traits."; 1525; 1892; 3417; "SCARF-SHEEP", "SCARF/SHEEP", "SHEEP-SCARF", "SHEEP/SCARF"; ; rdfs:label "SCARFSHEEP"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20007 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:464d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20007; "myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SHEEP/SCARF are Swedish population based case‐control studies. Cases are patients with a first confirmed myocardial infarction, controls have no history of myocardial infarction." . _:464e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SHEEP/SCARF are Swedish population based case‐control studies." . _:464f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SHEEP/SCARF are Swedish population based case‐control studies." . _:46502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000877"; "Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance."; "PMID:27841877" . _:46512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23202125"; "Large-scale association analysis identifies new risk loci for coronary artery disease."; "PMID:23202125", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SHEEP/SCARF are Swedish population based case‐control studies." . _:46522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A combined sample of two Swedish population-based case-control studies of myocardial infarction from Stockholm, the Stockholm Coronary Atherosclerosis Risk Factor (SCARF) study and the Stockholm Heart Epidemiology Program (SHEEP), whose cases had a first confirmed myocardial infarction and whose controls had no history of myocardial infarction, analysed together in genetic studies of coronary artery disease and cardiometabolic traits."; "PMID:21925715", "PMID:9665570", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1525; "cases and controls of the combined SCARF and SHEEP sample in the CARDIoGRAMplusC4D stage 2 analysis (2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SCARF- SHEEP CAD/MI 3417 2458/959 1525/1892" . _:46542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1892; "cases and controls of the combined SCARF and SHEEP sample in the CARDIoGRAMplusC4D stage 2 analysis (2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SCARF- SHEEP CAD/MI 3417 2458/959 1525/1892" . _:46552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3417; "cases and controls of the combined SCARF and SHEEP sample in the CARDIoGRAMplusC4D stage 2 analysis (2013)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2480/MediaObjects/41588_2013_BFng2480_MOESM9_ESM.pdf"; rdfs:comment "SCARF- SHEEP CAD/MI 3417 2458/959 1525/1892" . _:46562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCARF-SHEEP"; . _:46572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCARF/SHEEP"; . _:46582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHEEP-SCARF"; . _:46592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHEEP/SCARF"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Singapore Cardiovascular Cohort Study 2 is published jointly with the Singapore Prospective Study Program as one study, SP2/SCCS2 (PMID:19914996, PMID:23405065). The bare name the Catalog gives, Singapore Cardiovascular Cohort Study, is that of the earlier cohort it re-examined and is not carried over. Replaced by COHO:0000481 (Singapore Prospective Study Program), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Singapore Cardiovascular Cohort Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20021, _:genid-371333f489424440b12a13b9d98ced822608-genid20023; , ; ; "PGS001775", "PMID:34541285"; "A prospective cohort study, with inclusion from June 2014, of consecutive patients with subjective cognitive decline, without major psychiatric or neurological disorders, who presented at the memory clinic of the Alzheimer Center of VU University Medical Center Amsterdam, the Netherlands. After the clinic's standardised dementia screening they are followed annually, with repeated blood and cerebrospinal fluid collection for biobanking and optional amyloid PET, to study clinical progression and the factors contributing to subjective cognitive decline."; 151; "SCIENCe", "SCIENCe project"; ; rdfs:label "Subjective Cognitive Impairment Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20021 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20023 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:465a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20021; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6080529/fullTextXML"; rdfs:comment "Main outcome measures are clinical progression to MCI or dementia and decline in cognitive functioning." . _:465b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20023; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6080529/fullTextXML"; rdfs:comment "Main outcome measures are clinical progression to MCI or dementia and decline in cognitive functioning." . _:465c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6080529/fullTextXML"; rdfs:comment "The Subjective Cognitive Impairment Cohort (SCIENCe) is a prospective cohort study including consecutive patients with SCD presenting at the Alzheimer Center of the VU University Medical Center Amsterdam." . _:465d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12185448/fullTextXML"; rdfs:comment "We included 329 participants with SCD from the Subjective Cognitive Impairment Cohort (SCIENCe), embedded within the Amsterdam Dementia Cohort at the Alzheimer Center Amsterdam, Amsterdam UMC for whom baseline amyloid status had been assessed using cerebrospinal fluid (CSF) or positron emission tomography (PET)." . _:465e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001775"; "Risk of dementia in APOE ε4 carriers is mitigated by a polygenic risk score."; "PMID:34541285" . _:465f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34541285"; "Risk of dementia in APOE ε4 carriers is mitigated by a polygenic risk score."; "PMID:34541285", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8438688/fullTextXML"; rdfs:comment "We retrospectively studied 829 cognitively normal individuals with SCD from the Amsterdam Dementia Cohort and SCIENCe project (Subjective Cognitive Impairment Cohort).20 We selected all individuals with a baseline SCD diagnosis with available array genotyping, and availability of either ATN biomarkers, and/or follow‐up information." . _:46602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort study, with inclusion from June 2014, of consecutive patients with subjective cognitive decline, without major psychiatric or neurological disorders, who presented at the memory clinic of the Alzheimer Center of VU University Medical Center Amsterdam, the Netherlands. After the clinic's standardised dementia screening they are followed annually, with repeated blood and cerebrospinal fluid collection for biobanking and optional amyloid PET, to study clinical progression and the factors contributing to subjective cognitive decline."; "PMID:30081935"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 151; "participants included in the first two years of inclusion (from June 2014); inclusion ongoing (2016)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6080529/fullTextXML"; rdfs:comment "In addition, we report results based on a selection of cross-sectional data of the first 151 SCIENCe participants." . _:46622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCIENCe"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20032, _:genid-371333f489424440b12a13b9d98ced822608-genid20034, _:genid-371333f489424440b12a13b9d98ced822608-genid20036, _:genid-371333f489424440b12a13b9d98ced822608-genid20038; , ; ; "PMID:18483556"; "A case-control study of skin cancer nested within the Nurses' Health Study in the United States, in which women of the cohort's blood subcohort (blood given in 1989-1990) with incident melanoma, squamous cell carcinoma or basal cell carcinoma diagnosed after blood collection, and no earlier skin cancer, were compared with a common series of controls randomly selected from blood donors free of diagnosed skin cancer and matched by year of birth, with pigmentation and sun exposure information collected by a retrospective supplementary questionnaire."; 218; 870; "SCNCCS", "Skin Cancer Nested Case-Control Study within the NHS", "skin cancer nested case-control study"; rdfs:label "Skin Cancer Nested Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20032 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20034 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20036 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20038 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20032; "squamous cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2699349/fullTextXML"; rdfs:comment "We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls." . _:46642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20034; "melanoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2699349/fullTextXML"; rdfs:comment "We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls." . _:46652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20036; "basal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2699349/fullTextXML"; rdfs:comment "We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls." . _:46662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20038; "sun exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16943234+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We examined the associations of constitutional risk factors and sun exposure with the risks of three types of skin cancer simultaneously and evaluated the interaction between constitutional susceptibility and sun exposure in a nested case-control study within the Nurses' Health Study [200 melanoma, 275 squamous cell carcinoma (SCC), and 283 basal cell carcinoma (BCC) cases, and 804 controls]." . _:46672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2367449/"; rdfs:comment "The NHS was established in 1976, when 121,700 female U.S. registered nurses between the ages of 30 and 55, residing in 11 larger U.S. states, completed and returned the initial self-administered questionnaire on their medical histories and baseline health-related exposures, forming the basis for the NHS cohort." . _:46682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2367449/"; rdfs:comment "The sample consisted of 870 controls of European ancestry from a nested case-control study of skin cancer within the Nurses' Health Study (NHS)." . _:46692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18483556"; "A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation."; "PMID:18483556", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2367449/"; rdfs:comment "The promising SNPs from the initial GWAS were further genotyped among 870 controls in the skin cancer nested case-control study within the NHS." . _:466a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of skin cancer nested within the Nurses' Health Study in the United States, in which women of the cohort's blood subcohort (blood given in 1989-1990) with incident melanoma, squamous cell carcinoma or basal cell carcinoma diagnosed after blood collection, and no earlier skin cancer, were compared with a common series of controls randomly selected from blood donors free of diagnosed skin cancer and matched by year of birth, with pigmentation and sun exposure information collected by a retrospective supplementary questionnaire."; "PMID:16943234", "PMID:19500394"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:466b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 218; "NHS skin-cancer nested study: melanoma cases and common controls in 2009"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2699349/fullTextXML"; rdfs:comment "We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls." . _:466c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 870; "NHS skin-cancer nested study: melanoma cases and common controls in 2009"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2699349/fullTextXML"; rdfs:comment "We evaluated the associations of four genetic variants in the FGFR2 gene highly related to breast cancer risk and the three common tag-SNPs in the FGFR4 gene with skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls." . _:466d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCNCCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. SCOOP-UK is the Severe Childhood Onset Obesity Project: the childhood obesity GWAS of PMID:22484627 heads its study description with the Catalog's full name. Replaced by COHO:0000331 (Severe Childhood Onset Obesity Project), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Severe Childhood Onset Obesity Project United Kingdom"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20047; , , ; "PMID:27780307"; "A school-based cohort study of myopia in Singapore children, begun in three Singapore schools in 1999–2001, which recruited children aged 7 to 9 years and examined them yearly in their schools, with cycloplegic autorefraction and ocular biometry, to study the risk factors for the onset and progression of myopia."; 1979; "SCORM", "SCORM study", "Singapore Cohort Of the Risk factors for Myopia", "Singapore Cohort Study of Risk Factors for Myopia", "Singapore Cohort Study of the Risk factors for Myopia study", "Singapore Cohort of Risk Factors for Myopia", "Singapore Cohort study Of the Risk factors for Myopia", "Singapore Cohort study Of the Risk factors for Myopia study"; rdfs:label "Singapore Cohort Study of the Risk Factors for Myopia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20047 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:466e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20047; "myopia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1772924/"; rdfs:comment "Children aged 7–9 years from three Singapore schools were invited to participate in the SCORM (Singapore Cohort study Of the Risk factors for Myopia) study." . _:466f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7726587/fullTextXML"; rdfs:comment "The SCORM study was initiated in three schools in Singapore from 1999 to 2001." . _:46702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27780307"; "The contribution of recently identified adult BMI risk loci to paediatric obesity in a Singaporean Chinese childhood dataset."; "PMID:27780307", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27780307+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated for paediatric obesity associations at these risk loci utilizing genome-wide data from Chinese childhood subjects in the Singapore Cohort study Of the Risk factors for Myopia study (N = 1006)." . _:46712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A school-based cohort study of myopia in Singapore children, begun in three Singapore schools in 1999–2001, which recruited children aged 7 to 9 years and examined them yearly in their schools, with cycloplegic autorefraction and ocular biometry, to study the risk factors for the onset and progression of myopia."; "PMID:16234459", "PMID:33344056"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1979; "children aged 7-9 who agreed to participate at baseline (1999-2001)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1772924/"; rdfs:comment "There were 1979 children who agreed to participate (participation rate = 70.2%): 665 myopic (spherical equivalent (SE) at least −0.5 dioptres) children and 1314 non-myopic children at baseline." . _:46732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCORM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20054, _:genid-371333f489424440b12a13b9d98ced822608-genid20056; , ; ; "PGS000733", "PMID:29117387"; "A population-based case-control study of prostate cancer in older African American and white men in South Carolina, United States, funded by the Centers for Disease Control and Prevention. Men aged 65–79 with incident, histologically confirmed prostate cancer diagnosed from October 1999 to September 2001 were identified through the South Carolina Central Cancer Registry, and controls of the same ages, frequency-matched on age, race and region, were sampled from the Medicare beneficiary file; both were interviewed by telephone by the University of South Carolina Survey Research Laboratory about lifestyle, diet, medical and family history and farm work."; 416; 429; 845; "SCPCS"; ; rdfs:label "South Carolina Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20056 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20054; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5521001/"; rdfs:comment "This population-based case–control study of prostate cancer among men aged 65–79 years was conducted between 2000 and 2002 in South Carolina." . _:46752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20056; "lifestyle"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5521001/"; rdfs:comment "We investigated the association between lifestyle and prostate cancer risk among Caucasian and African– American men, separately." . _:46762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16912087+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This population-based case-control study had information on farming-related activities for 405 incident prostate cancer cases and 392 controls matched for age, race and region in South Carolina, USA, from 1999 to 2001." . _:46772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:46782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29117387"; "Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry."; "PMID:29117387", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "SCPCS: SCPCS is funded by CDC grant S1135-19/19, and SCPCS sample preparation was conducted at the Epidemiology Biospecimen Core Lab that is supported in part by the Vanderbilt-Ingram Cancer Center (P30 CA68485)." . _:46792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of prostate cancer in older African American and white men in South Carolina, United States, funded by the Centers for Disease Control and Prevention. Men aged 65–79 with incident, histologically confirmed prostate cancer diagnosed from October 1999 to September 2001 were identified through the South Carolina Central Cancer Registry, and controls of the same ages, frequency-matched on age, race and region, were sampled from the Medicare beneficiary file; both were interviewed by telephone by the University of South Carolina Survey Research Laboratory about lifestyle, diet, medical and family history and farm work."; "PMID:15150583", "PMID:15280622", "PMID:16912087", "PMID:29117387"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:467a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 416; "eligible final case-control study sample after recruitment exclusions (2000–2002)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5521001/"; rdfs:comment "After eliminating 59 subjects (7 cases and 52 controls) who had prevalent prostate cancer and three subjects (2 cases and 1 control) who completed fewer than five questions, the final sample size was 845 subjects (416 cases, 429 controls)." . _:467b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 429; "eligible final case-control study sample after recruitment exclusions (2000–2002)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5521001/"; rdfs:comment "After eliminating 59 subjects (7 cases and 52 controls) who had prevalent prostate cancer and three subjects (2 cases and 1 control) who completed fewer than five questions, the final sample size was 845 subjects (416 cases, 429 controls)." . _:467c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 845; "eligible final case-control study sample after recruitment exclusions (2000–2002)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5521001/"; rdfs:comment "After eliminating 59 subjects (7 cases and 52 controls) who had prevalent prostate cancer and three subjects (2 cases and 1 control) who completed fewer than five questions, the final sample size was 845 subjects (416 cases, 429 controls)." . _:467d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20066; , , ; ; "PMID:22158537"; "A genome-wide association study of type 2 diabetes in Chinese women in Shanghai, contributed by Vanderbilt University and the Shanghai Cancer Institute, whose cases were incident type 2 diabetes cases from the Shanghai Women's Health Study and prevalent cases found among the controls of the Shanghai Breast Cancer Study, and whose controls were women from the general population free of cancer and diabetes, shared with the Shanghai Breast Cancer Genetics Study. Genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0, it has also been pooled with the Shanghai breast and endometrial cancer genetics studies for genetic analyses of other traits in women."; 1019; 1710; 2729; "SDGS", "Shanghai Diabetes GWAS", "Shanghai Diabetes Genetics Study", "Shanghai Diabetes Genome-Wide Association Study"; rdfs:label "Shanghai Diabetes Genetic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20066 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:467e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20066; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2940731/fullTextXML"; rdfs:comment "From 590,887 SNPs genotyped in 1,019 T2D cases and 1,710 controls selected from Chinese women in Shanghai, we selected the top 2,100 SNPs that were not in linkage disequilibrium (r2<0.2) with known T2D loci for in silico replication in three T2D GWAS conducted among European Americans, Koreans, and Singapore Chinese." . _:467f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3600840/"; rdfs:comment "This analysis included a total of 6929 women from Shanghai, China who are participants of three ongoing GWAS: (i) the Shanghai Breast Cancer Genetics Study (SBCGS) (Zheng et al., 2009), (ii) the Shanghai Endometrial Cancer Genetics Study (SECGS) (Delahanty et al., 2011; Long et al., 2012) and (iii) the Shanghai Diabetes Genetics Study (SDGS) (Shu et al., 2010)." . _:46802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22158537"; "Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians."; "PMID:22158537", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3582398/unicode"; rdfs:comment "These eight studies included 6,952 T2D cases and 11,865 controls from the Korea Association Resource Study (KARE), the Singapore Diabetes Cohort Study (SDCS), the Singapore Prospective Study Program (SP2), the Singapore Malay Eye Study (SiMES), the Japan Cardiometabolic Genome Epidemiology Network(CAGE), the Shanghai Diabetes Genetic Study (SDGS), the Taiwan T2D Study (TDS), and the Cebu Longitudinal Health and Nutritional Survey (CLHNS)." . _:46812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study of type 2 diabetes in Chinese women in Shanghai, contributed by Vanderbilt University and the Shanghai Cancer Institute, whose cases were incident type 2 diabetes cases from the Shanghai Women's Health Study and prevalent cases found among the controls of the Shanghai Breast Cancer Study, and whose controls were women from the general population free of cancer and diabetes, shared with the Shanghai Breast Cancer Genetics Study. Genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0, it has also been pooled with the Shanghai breast and endometrial cancer genetics studies for genetic analyses of other traits in women."; "PMID:20862305", "PMID:22158264", "PMID:23406970", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1019; "SDGS discovery genome-wide scan cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "VU/SCI SDGS Chinese 1019 1710 2729 Population-based" . _:46832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1710; "SDGS discovery genome-wide scan cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "VU/SCI SDGS Chinese 1019 1710 2729 Population-based" . _:46842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2729; "SDGS discovery genome-wide scan cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "VU/SCI SDGS Chinese 1019 1710 2729 Population-based" . _:46852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20075; , ; "PMID:26237428"; "A population-based case-control study of Barrett's oesophagus and reflux-related conditions in Brisbane, Australia, whose cases were residents of metropolitan Brisbane aged 18 to 79 with a new histologically confirmed diagnosis of Barrett's oesophagus, with or without dysplasia, between February 2003 and June 2006, identified through the pathology laboratories serving the city, and whose controls were people randomly selected from the Australian electoral roll and matched to the cases by age and sex, together with endoscopy patients whose biopsies showed only oesophageal inflammation consistent with reflux and no Barrett's oesophagus."; 393; "SDH"; rdfs:label "Study of Digestive Health"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20075 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20075; "Barrett's esophagus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4474428/fullTextXML"; rdfs:comment "Briefly, SDH included cases aged 18–79 years with newly diagnosed Barrett’s esophagus (confirmed by histology as specialized intestinal metaplasia in a biopsy from the tubular esophagus)." . _:46872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4474428/fullTextXML"; rdfs:comment "This study, entitled the Barrett’s Oesophagus Metabolic Study (BOMS), was nested within the Study of Digestive Health (SDH), a population-based study conducted in Brisbane, Australia between February 1, 2003 and June 30, 2006." . _:46882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26237428"; "Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma."; "PMID:26237428", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3373/MediaObjects/41588_2015_BFng3373_MOESM50_ESM.pdf"; rdfs:comment "691 Q-MEGA cases genotyped on the Omni1-Quad array were combined with 553 healthy controls genotyped on the same array from the Study of Digestive Health (SDH)" . _:46892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of Barrett's oesophagus and reflux-related conditions in Brisbane, Australia, whose cases were residents of metropolitan Brisbane aged 18 to 79 with a new histologically confirmed diagnosis of Barrett's oesophagus, with or without dysplasia, between February 2003 and June 2006, identified through the pathology laboratories serving the city, and whose controls were people randomly selected from the Australian electoral roll and matched to the cases by age and sex, together with endoscopy patients whose biopsies showed only oesophageal inflammation consistent with reflux and no Barrett's oesophagus."; "PMID:16284367", "PMID:22787114", "PMID:26090820"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:468a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 393; "Barrett's oesophagus cases who completed the study, 2003-2006 (no total or control count stated for the whole study)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3750988/"; rdfs:comment "Thus, 393 BE cases (285 nondysplastic, 108 dysplastic) completed the study." . _:468b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20082, _:genid-371333f489424440b12a13b9d98ced822608-genid20084; , , ; ; "PMID:22961080"; "The inpatient database of the Shanghai Diabetes Institute at Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China: Han Chinese inpatients of the hospital's Department of Endocrinology and Metabolism, recruited from 2001, with type 2 diabetes, type 1 diabetes or genetic syndromes related to diabetes, for whom detailed phenotypes of glucose and lipid metabolism, blood pressure, liver and kidney function and diabetic complications were collected. Its type 2 diabetes patients have served as cases, with controls from the community-based Shanghai Diabetes Studies, in genetic association studies of type 2 diabetes and its complications."; 5950; "SDIID", "SHDIID", "Shanghai DIabetes Inpatient Database", "Shanghai Diabetes Inpatient Database", "Shanghai Diabetes Institute inpatient database"; rdfs:label "Shanghai Diabetes Institute Inpatient Database"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20082 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20084 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:468c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20082; "type 1 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The current study included 5,950 patients of type 1 diabetes, T2D or some genetic syndromes related to diabetes (e.g., Parder Willi, Rabson Manderhall)." . _:468d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20084; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The current study included 5,950 patients of type 1 diabetes, T2D or some genetic syndromes related to diabetes (e.g., Parder Willi, Rabson Manderhall)." . _:468e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "All participants are Chinese Han ancestry residing in Shanghai area." . _:468f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22961080"; "A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans."; "PMID:22961080", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3526061/fullTextXML"; rdfs:comment "The stage 3 replication testing of 10 SNPs is carried out by de novo genotyping in 3,410 T2D patients and 3,412 nondiabetic control subjects from the Shanghai Diabetes Inpatient Database (SDIID) and the Shanghai Diabetes Study (SDS) and in silico replication in the AGEN-T2D GWAS datasets (6,952 T2D case and 11,865 control subjects)." . _:46902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The inpatient database of the Shanghai Diabetes Institute at Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China: Han Chinese inpatients of the hospital's Department of Endocrinology and Metabolism, recruited from 2001, with type 2 diabetes, type 1 diabetes or genetic syndromes related to diabetes, for whom detailed phenotypes of glucose and lipid metabolism, blood pressure, liver and kidney function and diabetic complications were collected. Its type 2 diabetes patients have served as cases, with controls from the community-based Shanghai Diabetes Studies, in genetic association studies of type 2 diabetes and its complications."; "PMID:19937226", "PMID:21911749", "PMID:22961080", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5950; "Patients in the SHDIID inpatient database described in the 2012 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "The current study included 5,950 patients of type 1 diabetes, T2D or some genetic syndromes related to diabetes (e.g., Parder Willi, Rabson Manderhall)." . _:46922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDIID"; . _:46932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHDIID"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. SdNM is the PGS Catalog's id for the Service de Neurologie Mazarin (neuro-oncology department) of the Pitié-Salpêtrière hospital group in Paris, the site through which the 1,495 glioma patients of the French GWAS were ascertained (PMID:28346443). The sources give the case series no name of its own, no recruitment design beyond ascertainment at the department, and no study identity apart from 'the French GWAS', whose controls come from a separate cohort (SU.VI.MAX). The id denotes a hospital department's unnamed set of patients, so it is not a cohort. No COHO term or review row covers it. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Service de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière Paris"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20092; , ; ; "PMID:35435501"; "A population-based prospective cohort of men and women aged 35–56 without previously diagnosed diabetes from five municipalities of Stockholm County, Sweden, surveyed at baseline in 1992–1994 (men) and 1996–1998 (women) with the sample enriched to about half with a family history of diabetes, and re-examined after 8–10 years and again in 2014–2017 with health examinations, oral glucose tolerance tests and questionnaires, set up at the Karolinska Institute to study the determinants of prediabetes and type 2 diabetes."; 7948; "SDPP", "Stockholm Diabetes Prevention Programme"; rdfs:label "Stockholm Diabetes Prevention Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20092 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20092; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12406920+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Type 2 diabetes is the most common type of diabetes, with a prevalence of at least 4% in Sweden. Aiming at primary prevention of the disease, the Stockholm Diabetes Prevention Program (SDPP) was developed as a joint program between the Departments of Endocrinology, Social Medicine and Epidemiology at the Karolinska Institute." . _:46952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9363331/fullTextXML"; rdfs:comment "To investigate the association between fruit and vegetable intake (FVI) and the risk of developing prediabetes and type 2 diabetes (T2D) in a Swedish prospective cohort study." . _:46962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35435501"; "Fruit and vegetable intake and risk of prediabetes and type 2 diabetes: results from a 20-year long prospective cohort study in Swedish men and women."; "PMID:35435501", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9363331/fullTextXML"; rdfs:comment "The present study is part of the Stockholm Diabetes Prevention Program (SDPP), a prospective cohort study that comprised men and women 35–56 years old at baseline, without previously diagnosed diabetes, from five municipalities in Stockholm County." . _:46972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of men and women aged 35–56 without previously diagnosed diabetes from five municipalities of Stockholm County, Sweden, surveyed at baseline in 1992–1994 (men) and 1996–1998 (women) with the sample enriched to about half with a family history of diabetes, and re-examined after 8–10 years and again in 2014–2017 with health examinations, oral glucose tolerance tests and questionnaires, set up at the Karolinska Institute to study the determinants of prediabetes and type 2 diabetes."; "PMID:12406920", "PMID:35435501"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7948; "men and women who came to the baseline survey (men 1992-1994, women 1996-1998)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9363331/fullTextXML"; rdfs:comment "The current study included all subjects who came to baseline (n = 7948)" . _:46992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20099; , ; "PMID:30821829"; "A randomised trial cohort of men and women aged 18–80 years with a history of myocardial infarction, recruited from 1998 through special clinics at 88 UK hospitals and coordinated by the Clinical Trial Service Unit in Oxford, which compared 80 mg with 20 mg simvastatin daily and, in a two-by-two factorial design, folic acid plus vitamin B12 with placebo, and whose participants also served for the identification of an SLCO1B1 variant associated with simvastatin-induced myopathy."; "The acronym SEARCH also denotes Study of Epidemiology and Risk Factors in Cancer Heredity (COHO:0000881) and SEARCH for Diabetes in Youth (COHO:0000882); this term is Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine."@en; 12064; "SEARCH", "SEARCH trial", "SEARCH_b", "Study Evaluating Additional Reduction in Cholesterol and Homocysteine", "Study of the effectiveness of additional reductions in cholesterol and homocysteine"; rdfs:label "Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20099 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:469a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20099; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2988223/fullTextXML"; rdfs:comment "12 064 individuals (10 012 men and 2052 women) with a history of myocardial infarction and an average age of 64·2 (SD 8·9) years, were randomly assigned to treatment groups." . _:469b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2988223/fullTextXML"; rdfs:comment "Medical collaborators from 88 UK hospitals appointed senior nurses to run special clinics for the study (see Acknowledgments)." . _:469c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30821829"; "Assessment of Vascular Event Prevention and Cognitive Function Among Older Adults With Preexisting Vascular Disease or Diabetes: A Secondary Analysis of 3 Randomized Clinical Trials."; "PMID:30821829", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30821829+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This secondary analysis of 3 randomized clinical trials in participants with preexisting occlusive vascular disease or diabetes included survivors to final in-trial follow-up in the Heart Protection Study (HPS), Study of the Effectiveness of Additional Reductions in Cholesterol and Homocysteine (SEARCH), and Treatment of HDL (High-Density Lipoprotein) to Reduce the Incidence of Vascular Events (HPS2-THRIVE) trials of lipid modification for prevention of cardiovascular events." . _:469d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial cohort of men and women aged 18–80 years with a history of myocardial infarction, recruited from 1998 through special clinics at 88 UK hospitals and coordinated by the Clinical Trial Service Unit in Oxford, which compared 80 mg with 20 mg simvastatin daily and, in a two-by-two factorial design, folic acid plus vitamin B12 with placebo, and whose participants also served for the identification of an SLCO1B1 variant associated with simvastatin-induced myopathy."; "PMID:21067805"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:469e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12064; "SEARCH randomized myocardial-infarction survivors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2988223/fullTextXML"; rdfs:comment "12 064 individuals (10 012 men and 2052 women) with a history of myocardial infarction and an average age of 64·2 (SD 8·9) years, were randomly assigned to treatment groups." . _:469f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEARCH"; . _:46a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEARCH_b"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20107; , ; ; ; "PGS000082", "PMID:20852632"; "The ovarian cancer arm of the SEARCH population-based case-control study in England, whose cases are women with ovarian cancer from the East Anglian, West Midlands and Trent regions identified through the regional cancer registries (prevalent cases diagnosed 1991-1998 and incident cases from 1998 onwards) and whose controls were drawn from the EPIC-Norfolk cohort, set up to study genetic susceptibility to ovarian cancer."; 1496; 6067; "SEA", "SEARCH (Studies of Epidemiology and Risk Factors in Cancer Heredity Ovarian Cancer Study)", "SEARCH-OCS", "Studies of Epidemiology and Risk Factors in Cancer Heredity Ovarian Cancer Study", "Studies of Epidemiology and Risk Factors in Cancer Heredity-Ovarian Cancer"; ; rdfs:label "UK SEARCH Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20107 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20107; "ovarian cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; rdfs:comment "SEARCH (Studies of Epidemiology and Risk Factors in Cancer Heredity Ovarian Cancer Study)" . _:46a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2661781/fullTextXML"; rdfs:comment "Cases from East Anglian West Midlands and Trent regions of England." . _:46a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3013232/unicode"; rdfs:comment "SEARCH (Studies of Epidemiology and Risk Factors in Cancer Heredity Ovarian Cancer Study)" . _:46a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:46a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20852632"; "A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24."; "PMID:20852632", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "Illumina iSelect 467 372 SEA+UKO UK SEARCH Ovarian Cancer Study; United Kingdom Ovarian Cancer Population Study (UKOPS) United Kingdom SEARCH cases <70 years from East Anglian, West Midlands & Trent regions of England." . _:46a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The ovarian cancer arm of the SEARCH population-based case-control study in England, whose cases are women with ovarian cancer from the East Anglian, West Midlands and Trent regions identified through the regional cancer registries (prevalent cases diagnosed 1991-1998 and incident cases from 1998 onwards) and whose controls were drawn from the EPIC-Norfolk cohort, set up to study genetic susceptibility to ovarian cancer."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2661781/fullTextXML", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4264456/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1496; "SEARCH ovarian cancer cases and controls passing genotyping QC in the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Study of Epidemiology and Risk Factors in Cancer Heredity SEA UK: East Anglia and West Midlands Population based/ Case-‐control 1496 6067 99.1 1372(572)" . _:46a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6067; "SEARCH ovarian cancer cases and controls passing genotyping QC in the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Study of Epidemiology and Risk Factors in Cancer Heredity SEA UK: East Anglia and West Midlands Population based/ Case-‐control 1496 6067 99.1 1372(572)" . _:46a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEA"; . _:46aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEARCH-OCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Seattle is a city: the PGS Catalog cohort id Seattle is a sample listed by city in the cervical cancer (PGS000784) and breast cancer (PGS000351) source studies, with no study name. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Seattle"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Seoul CRC Study is the Seoul colorectal cancer study of the Asia Colorectal Cancer Consortium, whose GWAS supplement heads its description with that name and the id Korea-Seoul (PMID:24836286). Replaced by COHO:0001979 (Seoul Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete The Seoul CRC Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20118; , , ; ; "PGS001778", "PMID:17301695"; "A population-based case-control study of endometrial cancer among Chinese women in urban Shanghai, China, conducted from 1997 to 2003, in which women aged 30-69 with newly diagnosed endometrial cancer, identified through the Shanghai Cancer Registry, and age frequency-matched controls randomly selected from the general population through the Shanghai Resident Registry were interviewed in person and gave blood or buccal cell samples, to study risk factors for endometrial cancer."; 1204; 1212; "SECS", "Shanghai endometrial cancer study"; ; rdfs:label "Shanghai Endometrial Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20118 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20118; "endometrial cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2238679/"; rdfs:comment "This study consisted of 1204 incident endometrial cancer cases diagnosed between 30 and 69 years of age and 1212 age frequency-matched community controls recruited from 1997 to 2003." . _:46ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17301695+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Shanghai Endometrial Cancer Study is a population-based case-control study conducted among Chinese women in Shanghai." . _:46ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:46ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17301695"; "Interaction of soy and 17beta-HSD1 gene polymorphisms in the risk of endometrial cancer."; "PMID:17301695", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17301695+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Shanghai Endometrial Cancer Study is a population-based case-control study conducted among Chinese women in Shanghai." . _:46af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of endometrial cancer among Chinese women in urban Shanghai, China, conducted from 1997 to 2003, in which women aged 30-69 with newly diagnosed endometrial cancer, identified through the Shanghai Cancer Registry, and age frequency-matched controls randomly selected from the general population through the Shanghai Resident Registry were interviewed in person and gave blood or buccal cell samples, to study risk factors for endometrial cancer."; "PMID:17301695", "PMID:17315164", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.318/MediaObjects/41588_2009_BFng318_MOESM9_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1204; "SECS incident cases and community controls recruited 1997-2003"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2238679/"; rdfs:comment "This study consisted of 1204 incident endometrial cancer cases diagnosed between 30 and 69 years of age and 1212 age frequency-matched community controls recruited from 1997 to 2003." . _:46b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1212; "SECS incident cases and community controls recruited 1997-2003"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2238679/"; rdfs:comment "This study consisted of 1204 incident endometrial cancer cases diagnosed between 30 and 69 years of age and 1212 age frequency-matched community controls recruited from 1997 to 2003." . _:46b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SECS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20127; , ; ; "PGS000037", "PMID:20860503"; "A collection of children and adults with severe or refractory asthma recruited through three specialist severe asthma clinics in England, the adult and paediatric clinics of the Royal Brompton Hospital, London, and the adult clinic of the Glenfield Hospital, Leicester, where they were characterised under the clinics' severe asthma protocols, assembled as the severe asthma group of the GABRIEL consortium's genome-wide association study of asthma."; 290; "SEVERE", "Severe asthma study"; ; rdfs:label "Severe Asthma Cohorts"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20127 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20127; "severe asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "SEVERE: Severe/refractory cases of asthma were recruited through three specialist severe asthma clinics; adult and childhood clinics based at the Royal Brompton Hospital, London and an adult clinic at the Glenfield Hospital, Leicester." . _:46b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "adult and childhood clinics based at the Royal Brompton Hospital, London and an adult clinic at the Glenfield Hospital, Leicester" . _:46b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:46b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20860503"; "A large-scale, consortium-based genomewide association study of asthma."; "PMID:20860503", "https://europepmc.org/api/getPdf?pmcid=PMC4260321"; rdfs:comment "We did find a suggestive association with rs1837253 on chromosome 5, situated within the TSLP gene, among patients with severe asthma in the SEVERE study (P = 3×10−6; odds ratio, 0.56), but this association was not replicated among patients with severe asthma in the AUGOSA (Asthma UK Genetics of Severe Asthma) study." . _:46b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of children and adults with severe or refractory asthma recruited through three specialist severe asthma clinics in England, the adult and paediatric clinics of the Royal Brompton Hospital, London, and the adult clinic of the Glenfield Hospital, Leicester, where they were characterised under the clinics' severe asthma protocols, assembled as the severe asthma group of the GABRIEL consortium's genome-wide association study of asthma."; "PMID:20860503", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 290; "severe asthma cases retained in the GABRIEL/TAGC GWAS after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "After QC a total of 290 subjects were retained in the GWAS analyses." . _:46b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEVERE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20135; , ; ; "PMID:19245865"; "A population-based colorectal cancer family registry in western Washington State, United States, one of the sites of the Colon Cancer Family Registry, which enrolled people aged 20 to 74 with incident colorectal cancer in three Washington State counties, identified through the Puget Sound SEER cancer registry, together with their first-degree relatives, and age- and sex-matched population controls recruited from driver's licence lists (under 65) and health care finance files (65 to 74), all of whom completed epidemiology and family-history questionnaires by telephone."; 2106; "SCCFR", "SFCCR", "Seattle CCFR", "Seattle Colon Cancer Family Registry", "Seattle Colorectal Cancer Family Registry", "Seattle Familial Colon Cancer Registry"; rdfs:label "Seattle Familial Colorectal Cancer Registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20135 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20135; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2739726/"; rdfs:comment "The Seattle Familial Colorectal Cancer Registry identified incident population-based CRC cases aged 20–74 in 3 Washington state counties through the Puget Sound SEER program; controls were recruited through drivers license lists (age, <65 y) and through health care finance files (age, 65–74 y)." . _:46bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3464867/fullTextXML"; rdfs:comment "The cases were recently diagnosed CRC cases reported to population complete cancer registries in the United States (Puget Sound, WA, USA) recruited by the Seattle Familial Colorectal Cancer Registry;" . _:46bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6888855/fullTextXML"; rdfs:comment "through NCI/NIH cooperative agreements with the following Colon Cancer Family Registry (CCFR) sites: Australasian Colorectal Cancer Family Registry (U01 CA074778 and U01/U24 CA097735), Mayo Colon Cancer Family Registry (U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (U01/U24 CA074783), Seattle Familial Colorectal Cancer Registry (U01/U24 CA074794)" . _:46bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19245865"; "Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study."; "PMID:19245865", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2739726/"; rdfs:comment "The Seattle Familial Colorectal Cancer Registry identified incident population-based CRC cases aged 20–74 in 3 Washington state counties through the Puget Sound SEER program; controls were recruited through drivers license lists (age, <65 y) and through health care finance files (age, 65–74 y)." . _:46be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based colorectal cancer family registry in western Washington State, United States, one of the sites of the Colon Cancer Family Registry, which enrolled people aged 20 to 74 with incident colorectal cancer in three Washington State counties, identified through the Puget Sound SEER cancer registry, together with their first-degree relatives, and age- and sex-matched population controls recruited from driver's licence lists (under 65) and health care finance files (65 to 74), all of whom completed epidemiology and family-history questionnaires by telephone."; "PMID:17618283", "PMID:19245865", "PMID:27253385"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2106; "Seattle registry CRC cases enrolled 1998-2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4890809/fullTextXML"; rdfs:comment "The population from which sample for this study was drawn included CRC cases enrolled 1998–2004 (N = 2,106 total)." . _:46c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCCFR"; . _:46c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SFCCR"; . _:46c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Seattle CCFR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20145; , ; , ; "PGS000733", "PMID:29117387"; "A population-based case-control study of advanced prostate cancer among non-Hispanic White and African American men aged 40-79 in the San Francisco Bay Area, California, United States, whose cases were diagnosed from 1997 to 2000 and identified through the Greater Bay Area Cancer Registry and whose controls, men without a history of prostate cancer, were found by random-digit dialling and from Health Care Financing Administration rosters and frequency matched to cases on race and age; participants were interviewed about lifetime sun exposure and other risk factors and gave biospecimens."; 450; 455; 905; "SFPCS"; ; rdfs:label "San Francisco Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20145 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20145; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15958597+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a population-based, case-control study of advanced prostate cancer among men ages 40 to 79 years from the San Francisco Bay area." . _:46c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15958597+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a population-based, case-control study of advanced prostate cancer among men ages 40 to 79 years from the San Francisco Bay area." . _:46c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:46c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29117387"; "Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry."; "PMID:29117387", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; rdfs:comment "San Francisco Prostate Cancer Study | SFPCS | ELLIPSE/OncoArray | 86 | 37 | 81 | 36 | Case-control in Bay Area, CA | Non-Hispanic African-American men ages 40-79 years diagnosed with advanced prostate cancer from 1997-2000. Cases were identified through the Greater Bay Area Cancer Registry. | Non-Hispanic African-American men ages 40-79 years without a history of prostate cancer | [PMID: 15958597]" . _:46c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of advanced prostate cancer among non-Hispanic White and African American men aged 40-79 in the San Francisco Bay Area, California, United States, whose cases were diagnosed from 1997 to 2000 and identified through the Greater Bay Area Cancer Registry and whose controls, men without a history of prostate cancer, were found by random-digit dialling and from Health Care Financing Administration rosters and frequency matched to cases on race and age; participants were interviewed about lifetime sun exposure and other risk factors and gave biospecimens."; "PMID:15958597", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448553/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 450; "Interviewed non-Hispanic White SFPCS subset in the own 2005 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15958597+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Interview data on lifetime sun exposure and other risk factors were collected for 905 non-Hispanic White men (450 cases and 455 controls)." . _:46c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 455; "Interviewed non-Hispanic White SFPCS subset in the own 2005 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15958597+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Interview data on lifetime sun exposure and other risk factors were collected for 905 non-Hispanic White men (450 cases and 455 controls)." . _:46ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 905; "Interviewed non-Hispanic White SFPCS subset in the own 2005 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15958597+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Interview data on lifetime sun exposure and other risk factors were collected for 905 non-Hispanic White men (450 cases and 455 controls)." . _:46cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SFPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20155, _:genid-371333f489424440b12a13b9d98ced822608-genid20157; , , ; , ; "PGS000344", "PMID:33901219"; "An ongoing multi-ethnic cohort of breast cancer patients aged 21 years and over who are citizens or permanent residents of Singapore, recruited from April 2010 at the National University Hospital and later at five other public tertiary hospitals in Singapore, with retrospective and prospective components, questionnaire, medical record and biospecimen data and follow-up through linkage with the Registry of Births and Deaths, established to identify genetic markers of breast cancer risk, prognosis and treatment response and to study ethnic differences in breast cancer risk and outcome in Asia."; 7768; 7768; "SGBCC"; ; rdfs:label "Singapore Breast Cancer Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20155 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20157 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20155; "breast carcinoma in situ"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8075208/fullTextXML"; rdfs:comment "Eligibility is assessed with the following criteria: (1) a diagnosis of breast carcinoma in situ or invasive breast cancer; (2) citizens or permanent residents of Singapore; and (3) aged 21 years and above." . _:46cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20157; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8075208/fullTextXML"; rdfs:comment "Eligibility is assessed with the following criteria: (1) a diagnosis of breast carcinoma in situ or invasive breast cancer; (2) citizens or permanent residents of Singapore; and (3) aged 21 years and above." . _:46ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33901219+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cohort comprises of breast cancer patients aged 21 years and above from six public hospitals which diagnose and treat nearly 76% breast cancer cases in Singapore." . _:46cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:46d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33901219"; "Cohort profile: The Singapore Breast Cancer Cohort (SGBCC), a multi-center breast cancer cohort for evaluation of phenotypic risk factors and genetic markers."; "PMID:33901219", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33901219+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This article aims to provide a detailed description of the Singapore Breast Cancer Cohort (SGBCC), an ongoing multi-ethnic cohort established with the overarching goal to identify genetic markers for breast cancer risk, prognosis and treatment response, as well as to understand the ethnic differences in disease risk and outcome in an Asian setting." . _:46d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing multi-ethnic cohort of breast cancer patients aged 21 years and over who are citizens or permanent residents of Singapore, recruited from April 2010 at the National University Hospital and later at five other public tertiary hospitals in Singapore, with retrospective and prospective components, questionnaire, medical record and biospecimen data and follow-up through linkage with the Registry of Births and Deaths, established to identify genetic markers of breast cancer risk, prognosis and treatment response and to study ethnic differences in breast cancer risk and outcome in Asia."; "PMID:33901219"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7768; "SGBCC breast cancer patients recruited as of 31 December 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8075208/fullTextXML"; rdfs:comment "As of 31 December 2016, 7,768 subjects have been recruited to the study with 76% subjects contributed bio-specimens." . _:46d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7768; "SGBCC breast cancer patients recruited as of 31 December 2016"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8075208/fullTextXML"; rdfs:comment "As of 31 December 2016, 7,768 subjects have been recruited to the study with 76% subjects contributed bio-specimens." . _:46d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGBCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20166; , ; ; "PMID:11424985"; "A family collection of the US National Institute of Mental Health Genetics Initiative, a multisite study set up as a national resource with a centralised clinical database and cell repository, in which Washington University, Harvard University and Columbia University ascertained, from 1991 to 1997, nuclear families of European and African ancestry with siblings affected by schizophrenia or schizoaffective disorder, for genetic linkage and association studies of schizophrenia; its cases later formed one of the three collections of the Molecular Genetics of Schizophrenia genome-wide association study."; 244; "NIMH Genetics Initiative on Schizophrenia", "NIMH-SGI", "National Institute of Mental Health (NIMH) Schizophrenia Genetics Initiative", "National Institute of Mental Health Schizophrenia Genetics Initiative", "SGI", "Schizophrenia Genetics Initiative"; rdfs:label "NIMH Schizophrenia Genetics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20166 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20166; "schizophrenia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature08192/MediaObjects/41586_2009_BFnature08192_MOESM270_ESM.pdf"; rdfs:comment "Briefly: SGI subjects (2.4%) were recruited by three research groups in the United States (see Acknowledgments) in a study designed to collect families with affected sibling pairs (and other affected members when available), ascertaining through probands with schizophrenia recruited through clinical settings." . _:46d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature08192/MediaObjects/41586_2009_BFnature08192_MOESM270_ESM.pdf"; rdfs:comment "Briefly: SGI subjects (2.4%) were recruited by three research groups in the United States (see Acknowledgments) in a study designed to collect families with affected sibling pairs (and other affected members when available), ascertaining through probands with schizophrenia recruited through clinical settings." . _:46d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:11424985"; "Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7)."; "PMID:11424985", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11424985+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The transmission/disequilibrium test was used for fine mapping of the linkage of schizophrenia to the chromosome 15q13-14 region, the site of a candidate gene, the alpha7 nicotinic acetylcholine receptor subunit gene (CHRNA7), in parent-child triads from the NIMH Schizophrenia Genetics Initiative families." . _:46d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family collection of the US National Institute of Mental Health Genetics Initiative, a multisite study set up as a national resource with a centralised clinical database and cell repository, in which Washington University, Harvard University and Columbia University ascertained, from 1991 to 1997, nuclear families of European and African ancestry with siblings affected by schizophrenia or schizoaffective disorder, for genetic linkage and association studies of schizophrenia; its cases later formed one of the three collections of the Molecular Genetics of Schizophrenia genome-wide association study."; "PMID:23936182", "PMID:9674971", "PMID:9674973", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000167.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 244; "members of the nuclear families of 92 affected sib pairs in the 1998 genome scan (analysed sample; the collection grew later)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9674971+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Millennium Schizophrenia Consortium has completed a genome-wide scan to detect susceptibility loci for schizophrenia in 244 individuals from the nuclear families of 92 independent pairs of schizophrenic sibs ascertained by the NIMH Genetics Initiative." . _:46da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NIMH-SGI"; . _:46db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGI"; . a owl:NamedIndividual, ; ; "SGPC"; ; rdfs:label "GPC Cohort / Sanger Institute"@en . _:46dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGPC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. Southern German Recurrent Depression is the name PMID:21521612 gives the southern German recurrent major depression case-control sample, citing the two papers the existing term is defined from. Replaced by COHO:0001182 (GSK Munich recurrent major depression case-control study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Southern German Recurrent Depression"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20175, _:genid-371333f489424440b12a13b9d98ced822608-genid20177, _:genid-371333f489424440b12a13b9d98ced822608-genid20179; , , , , ; , , ; "PGS000050", "PMID:27931260"; "A collection of the genome-wide genotyping of Chinese participants of population-based studies in Shanghai, China, run by Vanderbilt University with the Shanghai Cancer Institute and the Shanghai Institute of Preventive Medicine, that pools the scans of the Shanghai Breast Cancer Study, the Shanghai Breast Cancer Survival Study, the Shanghai Endometrial Cancer Study, the Shanghai Women's Health Study and the Shanghai Men's Health Study for genetic association studies of breast cancer and other traits such as body mass index."; 2311; 6936; "SGWAS", "Shanghai Genome Wide Associations Studies", "Shanghai Genome-wide Association Studies", "Shanghai genome-wide association studies"; ; rdfs:label "Shanghai Genome-Wide Association Studies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20175 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20177 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20179 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20175; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai genome-wide association studies (SGWAS) population-based 1) 2,895 breast cancer cases, 2) 828 endometrial cancer cases, 3) 886 type 2 diabetes cases, 4) 2,309 controls, all unrelated" . _:46de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20177; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai genome-wide association studies (SGWAS) population-based 1) 2,895 breast cancer cases, 2) 828 endometrial cancer cases, 3) 886 type 2 diabetes cases, 4) 2,309 controls, all unrelated" . _:46df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20179; "endometrial cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai genome-wide association studies (SGWAS) population-based 1) 2,895 breast cancer cases, 2) 828 endometrial cancer cases, 3) 886 type 2 diabetes cases, 4) 2,309 controls, all unrelated" . _:46e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The Shanghai genome-wide association studies include participants of the Shanghai Breast Cancer Study (SBCS), Shanghai Endometrial Cancer Study (SECS), Shanghai Breast Cancer Survival Study (SBCSS), and Shanghai Women’s Health Study (SWHS)." . _:46e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4168820/"; rdfs:comment "Participating studies (grant support) in the Shanghai Genome-Wide Association Studies (SGWAS) are as follows: Shanghai Women's Health Study (R37CA070867 to W.Z.), Shanghai Men′s Health Study (R01CA082729 to X.-O.S.), Shanghai Breast Cancer Study (R01CA064277 to X.-O.S.) and Shanghai Endometrial Cancer Study (R01CA092585 to X.-O.S.)." . _:46e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The Shanghai genome-wide association studies include participants of the Shanghai Breast Cancer Study (SBCS), Shanghai Endometrial Cancer Study (SECS), Shanghai Breast Cancer Survival Study (SBCSS), and Shanghai Women’s Health Study (SWHS)." . _:46e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The Shanghai genome-wide association studies include participants of the Shanghai Breast Cancer Study (SBCS), Shanghai Endometrial Cancer Study (SECS), Shanghai Breast Cancer Survival Study (SBCSS), and Shanghai Women’s Health Study (SWHS)." . _:46e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The Shanghai genome-wide association studies include participants of the Shanghai Breast Cancer Study (SBCS), Shanghai Endometrial Cancer Study (SECS), Shanghai Breast Cancer Survival Study (SBCSS), and Shanghai Women’s Health Study (SWHS)." . _:46e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5146840/fullTextXML"; rdfs:comment "data from 11 participating case–control studies from three sources: 12,893 women (6269 cases and 6624 controls) of East Asian origin participating in nine studies in the Breast Cancer Association Consortium (BCAC) that were conducted in China, Japan, South Korea, Thailand, and Malaysia; 5152 Chinese women (2867 cases and 2285 controls) from the Shanghai Genome-Wide Association Studies (SGWAS) who were participants in the Shanghai Breast Cancer Study (SBCS), the Shanghai Breast Cancer Survival Study (SBCSS), and the Shanghai Women’s Health Study (SWHS) (the SBCS is a population-based case–control study, and the SBCSS and SWHS are ongoing population-based, prospective cohort studies—all" . _:46e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000050"; "Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry."; "PMID:27931260" . _:46e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27931260"; "Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry."; "PMID:27931260", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5146840/fullTextXML"; rdfs:comment "data from 11 participating case–control studies from three sources: 12,893 women (6269 cases and 6624 controls) of East Asian origin participating in nine studies in the Breast Cancer Association Consortium (BCAC) that were conducted in China, Japan, South Korea, Thailand, and Malaysia; 5152 Chinese women (2867 cases and 2285 controls) from the Shanghai Genome-Wide Association Studies (SGWAS) who were participants in the Shanghai Breast Cancer Study (SBCS), the Shanghai Breast Cancer Survival Study (SBCSS), and the Shanghai Women’s Health Study (SWHS) (the SBCS is a population-based case–control study, and the SBCSS and SWHS are ongoing population-based, prospective cohort studies—all" . _:46e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of the genome-wide genotyping of Chinese participants of population-based studies in Shanghai, China, run by Vanderbilt University with the Shanghai Cancer Institute and the Shanghai Institute of Preventive Medicine, that pools the scans of the Shanghai Breast Cancer Study, the Shanghai Breast Cancer Survival Study, the Shanghai Endometrial Cancer Study, the Shanghai Women's Health Study and the Shanghai Men's Health Study for genetic association studies of breast cancer and other traits such as body mass index."; "PMID:22344219", "PMID:24861553", "PMID:27931260"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2311; "women included in the Shanghai genome-wide association studies as described for the 2012 East Asian BMI GWAS: breast cancer, endometrial cancer and diabetes case groups and a common control group"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The control group included 2,311 women (2,081 controls from the SBCS and 230 women from the SWHS) and served as the common control for three disease groups." . _:46ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6936; "women included in the Shanghai genome-wide association studies as described for the 2012 East Asian BMI GWAS: breast cancer, endometrial cancer and diabetes case groups and a common control group"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Thus, a total of 6,936 women were included in the Shanghai genome-wide association studies, of whom 6,918 women with BMI measurement are included in the current analysis." . _:46eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SGWAS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20193; , ; "PGS000769", "PMID:22792082"; "A genome-wide genotyping project of the NHLBI SNP Health Association Resource (SHARe) that collects children and adults with asthma who took part in NHLBI asthma clinical trials: children of the Childhood Asthma Management Program and of trials of the Childhood Asthma Research and Education (CARE) network, most of them with their parents as parent-child trios, and adults of trials of the Asthma Clinical Research Network (ACRN), for genetic studies of asthma and of response to asthma treatment."; "The acronym SHARe also denotes WHI SNP Health Association Resource (COHO:0000604), Sinai-Helmsley Alliance for Research Excellence (COHO:0000725) and Survey of Health, Ageing and Retirement in Europe (COHO:0002644); this term is SNP Health Association Asthma Resource Project."@en; "NHLBI SNP Health Association Resource (SHARe) Asthma Resource project", "SHARP", "SHARe", "SHARe Asthma Resource project", "SNP Health Associated Resource", "SNP Health Association Resource (SHARe) Asthma Resource project", "SNP Health Association Resource Asthma Resource Project", "Single-nucleotide polymorphism Health association-Asthma Resource Project"; ; rdfs:label "SNP Health Association Asthma Resource Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20193 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20193; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8073919/"; rdfs:comment "subsets of clinical trials within the Childhood Asthma Research and Education (CARE) network including individuals with mild to moderate asthma [21], and the Asthma Clinical Research Network (ACRN) participating in the NHLBI SNP Health Association Resource (SHARe) Asthma Resource project (SHARP), which included individuals with a range of asthma severity (mild to severely persistent) [22]." . _:46ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3185108/unicode"; rdfs:comment "The publically available SHARP data used were the trios from the Childhood Asthma Research and Education (CARE) network and the Childhood Asthma Management Program (CAMP) project." . _:46ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3185108/unicode"; rdfs:comment "The publically available SHARP data used were the trios from the Childhood Asthma Research and Education (CARE) network and the Childhood Asthma Management Program (CAMP) project." . _:46ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000769"; "Pharmacogenetic Polygenic Risk Score for Bronchodilator Response in Children and Adolescents with Asthma: Proof-of-Concept."; "PMID:33923870" . _:46f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22792082"; "Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene."; "PMID:22792082", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3390407/"; rdfs:comment "and subsets of clinical trials within the Childhood Asthma Research and Education (CARE) network [38], and the Asthma Clinical Research Network (ACRN) [39] participating in the NHLBI SNP Health Association Resource (SHARe) Asthma Resource project (SHARP)." . _:46f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide genotyping project of the NHLBI SNP Health Association Resource (SHARe) that collects children and adults with asthma who took part in NHLBI asthma clinical trials: children of the Childhood Asthma Management Program and of trials of the Childhood Asthma Research and Education (CARE) network, most of them with their parents as parent-child trios, and adults of trials of the Asthma Clinical Research Network (ACRN), for genetic studies of asthma and of response to asthma treatment."; "PMID:22792082", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000166.v2.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHARP"; . _:46f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHARe"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20202; , ; ; "PMID:24462138"; "A population-based case-control study of risk factors for a first myocardial infarction, whose study base was all Swedish citizens aged 45–70 years without a previous myocardial infarction living in Stockholm County, Sweden, in 1992–1994: cases were identified through the coronary and intensive care units of the catchment-area hospitals, hospital discharge records and death certificates, controls were drawn at random from the study base matched on age, sex and hospital catchment area, and the patients were followed for recurrent cardiovascular events and mortality."; 2246; 3206; "SHEEP", "SHEEP study", "Stockholm Heart epidemiology Program"; rdfs:label "Stockholm Heart Epidemiology Program"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20202 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20202; "myocardial infarction"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2465514/"; rdfs:comment "The SHEEP study is a population‐based case–control study of risk factors for incident myocardial infarction and has been described in detail elsewhere.27 The study base included all Swedish citizens aged 45–70 years, with no prior clinically diagnosed myocardial infarction event, living in Stockholm County during 1992–4." . _:46f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2465514/"; rdfs:comment "All Swedish citizens born during 1922–49 and living in Stockholm County during 1992–4." . _:46f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24462138"; "Association of interleukin 8 with myocardial infarction: results from the Stockholm Heart Epidemiology Program."; "PMID:24462138", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24462138+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate the association of IL8 serum levels with the risk of MI and the association of the IL8 (IL8) and IL8 receptors (CXCR1 and CXCR2) genetic variants with IL8 levels and MI risk in a large case control study, the Stockholm Heart Epidemiology Program." . _:46f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of risk factors for a first myocardial infarction, whose study base was all Swedish citizens aged 45–70 years without a previous myocardial infarction living in Stockholm County, Sweden, in 1992–1994: cases were identified through the coronary and intensive care units of the catchment-area hospitals, hospital discharge records and death certificates, controls were drawn at random from the study base matched on age, sex and hospital catchment area, and the patients were followed for recurrent cardiovascular events and mortality."; "PMID:17108306", "PMID:34551078"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2246; "SHEEP first-MI cases and controls included in 1992-1994"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2465514/"; rdfs:comment "In total, 2246 patients and 3206 controls were included." . _:46f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3206; "SHEEP first-MI cases and controls included in 1992-1994"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2465514/"; rdfs:comment "In total, 2246 patients and 3206 controls were included." . _:46fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHEEP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20210; , ; ; "PMID:42664632"; "A multicentre prospective cohort study of the US National Heart, Lung, and Blood Institute that enrolled adults aged 40 years or older in 1995–1998 from existing epidemiological cohorts (sites of the Atherosclerosis Risk in Communities Study and the Cardiovascular Health Study, the Framingham Offspring Cohort, the Strong Heart Study, the New York Hypertension Cohorts and two Tucson studies) and added an in-home polysomnogram at baseline and again in 2001–2003 to their data, to study obstructive sleep apnoea and other sleep-disordered breathing as risk factors for cardiovascular disease, hypertension and death."; 6441; "SHHS"; rdfs:label "Sleep Heart Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20210 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:46fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20210; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3498243/fullTextXML"; rdfs:comment "SHHS is a prospective cohort of 6,441 subjects who underwent polysomnography recruited from six established cohorts to study the effects of OSA on cardiovascular disease [29]." . _:46fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12649793/fullTextXML"; rdfs:comment "the study population consisted primarily of middle-aged and older adults from community-dwelling populations in the United States" . _:46fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42664632"; "Multidimensional sleep health and all-cause mortality: Counterfactual risk estimation and component-specific contributions in the sleep heart health study."; "PMID:42664632", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42664632+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We included 4382 adults from the Sleep Heart Health Study with baseline polysomnography, questionnaire-based sleep assessments, covariates, and mortality follow-up." . _:46fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre prospective cohort study of the US National Heart, Lung, and Blood Institute that enrolled adults aged 40 years or older in 1995–1998 from existing epidemiological cohorts (sites of the Atherosclerosis Risk in Communities Study and the Cardiovascular Health Study, the Framingham Offspring Cohort, the Strong Heart Study, the New York Hypertension Cohorts and two Tucson studies) and added an in-home polysomnogram at baseline and again in 2001–2003 to their data, to study obstructive sleep apnoea and other sleep-disordered breathing as risk factors for cardiovascular disease, hypertension and death."; "PMID:9493915", "https://biolincc.nhlbi.nih.gov/studies/shhs/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:46ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6441; "SHHS participants recruited for baseline polysomnography"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3498243/fullTextXML"; rdfs:comment "SHHS is a prospective cohort of 6,441 subjects who underwent polysomnography recruited from six established cohorts to study the effects of OSA on cardiovascular disease [29]." . _:47002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHHS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. SHMC is the PGS Catalog's id for the Chaim Sheba Medical Center (Tel Hashomer, Ramat Gan, Israel) as a CIMBA contributing site: the BRCA1 and BRCA2 pathogenic-variant carriers from its oncogenetics unit that entered the OCAC/CIMBA ovarian cancer GWAS (PMID:28346442) and CIMBA's PRS analyses (PMID:32665703). CIMBA's own lists name the study only after the hospital ('Sheba Medical Centre', 'SMC-CIMBA'), and no source gives it a name, design or recruitment of its own. This is the same case as LUHR (E651, Landspitali), so it is not a cohort. No COHO term covers it; CIMBA is COHO:0000901. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Sheba Medical Centre"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20217; ; , , ; "PMID:39051044"; "A population-based eye study of ethnic Indian and ethnic Chinese adults aged 40 years and older living in south-western Singapore, sampled by age-stratified random sampling from name lists provided by the Ministry of Home Affairs and examined with standardised interviews, eye examinations and laboratory investigations, with blood, tear and urine samples stored for genetic and proteomic studies, to quantify ethnic differences in the prevalence, risk factors and impact of major eye diseases; its Indian component is the Singapore Indian Eye Study, and together with the Singapore Malay Eye Study it covers Singapore's three main ethnic groups."; 6753; "SICC", "Singapore Indian Chinese Cohort (SICC) Eye Study", "Singapore Indian Chinese Cohort Eye Study", "Singapore Indian Chinese cohort eye study"; rdfs:label "Singapore Indian Chinese Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20217 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20217; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19995197+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In conjunction with the Singapore Malay Eye Study, the SICC study will permit an in-depth evaluation of the prevalence, risk factors, and impact of major eye diseases in Chinese, Indians and Malays, three distinct Asian ethnic groups, whose combined numbers represent half the world's population." . _:47022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19995197+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This report summarizes the rationale and study design of the Singapore Indian Chinese Cohort (SICC) Eye Study, a population-based study of ethnic South Asian (Indians) and East Asian (Chinese) older adults in Singapore." . _:47032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39051044"; "Contributions of Lipid-Related Metabolites and Complement Proteins to Early and Intermediate Age-Related Macular Degeneration."; "PMID:39051044", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11268342/fullTextXML"; rdfs:comment "The analyses were performed in a subset of the Singapore Indian Chinese Cohort (SICC) Eye Study." . _:47042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based eye study of ethnic Indian and ethnic Chinese adults aged 40 years and older living in south-western Singapore, sampled by age-stratified random sampling from name lists provided by the Ministry of Home Affairs and examined with standardised interviews, eye examinations and laboratory investigations, with blood, tear and urine samples stored for genetic and proteomic studies, to quantify ethnic differences in the prevalence, risk factors and impact of major eye diseases; its Indian component is the Singapore Indian Eye Study, and together with the Singapore Malay Eye Study it covers Singapore's three main ethnic groups."; "PMID:19995197", "PMID:23964661", "PMID:39051044"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6753; "Indian and Chinese adults aged 40 and over examined in the SICC Eye Study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11268342/fullTextXML"; rdfs:comment "The Singapore Indian Chinese Cohort is a prospective population-based study of 6753 subjects aged ≥40 years." . _:47062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SICC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20224; , , ; "PGS000770", "PMID:22344219"; "A hospital-based case-control genome-wide association study of hypertension among Han Chinese adults aged 37–84 living in the Shanghai metropolitan area, approved by the ethics committee of Ruijin Hospital. Its cases had hypertension diagnosed after age 30 and at least two family members with hypertension, and its controls were normotensive adults over 40; both groups had a BMI under 27 kg/m2 and cases had no diabetes."; 446; 455; 901; "SIH"; ; rdfs:label "Shanghai Institute of Hypertension GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20224 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20224; "hypertension"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai Institute of Hypertension (SIH) GWAS This is a case-control GWAS investigating the genetic variants associated with hypertension." . _:47082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The study included a total of 446 hypertension cases (224 men/222 women) and 455 controls (230 men, 225 women) aged 37-84 years, which were Chinese Han origin residing in the Shanghai metropolitan area and gave written informed consent to donating blood samples for genetic analysis and related assays." . _:47092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000770"; "The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study."; "PMID:31649740" . _:470a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22344219"; "Meta-analysis identifies common variants associated with body mass index in east Asians."; "PMID:22344219", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3288728/"; rdfs:comment "The SIH was supported by the Chinese National Key Program for Basic Research (Grant 973:2004CB518603) and Chinese National High Tech Program (Grant 863:2009AA022703)." . _:470b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control genome-wide association study of hypertension among Han Chinese adults aged 37–84 living in the Shanghai metropolitan area, approved by the ethics committee of Ruijin Hospital. Its cases had hypertension diagnosed after age 30 and at least two family members with hypertension, and its controls were normotensive adults over 40; both groups had a BMI under 27 kg/m2 and cases had no diabetes."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:470c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 446; "hypertension cases and normotensive controls in the GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai Institute of Hypertension (SIH) GWAS (N=901)" . _:470d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 455; "hypertension cases and normotensive controls in the GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai Institute of Hypertension (SIH) GWAS (N=901)" . _:470e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 901; "hypertension cases and normotensive controls in the GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "Shanghai Institute of Hypertension (SIH) GWAS (N=901)" . _:470f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIH"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. Sikh GWAS is the Punjabi Sikh type 2 diabetes GWAS sample of PMID:23300278, drawn from the Asian Indian Diabetic Heart Study, which the paper says is also named the Sikh Diabetes Study. The Catalog's name describes that analysis and is not carried over. Replaced by COHO:0001116 (Asian Indian Diabetic Heart Study/Sikh Diabetes Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Sikh GWAS"@en; owl:deprecated true . a owl:NamedIndividual, ; , , , , , , ; "PGS005204", "PMID:26188009"; "A collection of genetic and phenotypic data, gathered in 2010 by the scientific expedition Marco Polo (Marcopolo 2010), from healthy people in communities of the Terra Madre network along the Silk Road in Georgia, Armenia, Azerbaijan, Uzbekistan, Kazakhstan and Tajikistan (rural communities, and also cities in Uzbekistan and Kazakhstan), with ethics approval from the IRCCS Burlo Garofolo hospital in Trieste, Italy. It was used to study the genetics of the senses, such as taste, food preferences, hearing and vision, in these isolated populations."; "The acronym SR also denotes Stroke Registry (COHO:0002407); this term is Silk Road."@en; 496; "SR", "SR cohort", "Silk Road cohort"; ; rdfs:label "Silk Road"@en . _:47102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4267745/fullTextXML"; rdfs:comment "With the aim of studying the genetics of several phenotypes (e.g. food preferences, hearing and taste [9-12]), the Marco Polo scientific campaign, collected in 2010 genetic and phenotypic information of 411 individuals from six countries dwelling along the Silk Road (Georgia, Armenia, Azerbaijan, Uzbekistan, Kazakhstan and Tajikistan)." . _:47112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005204"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:47122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26188009"; "Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss."; "PMID:26188009", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4572074/fullTextXML"; rdfs:comment "These 223 SNPs were further analyzed by combining data from a completely independent cohort of isolated communities (Silk Road cohort, N = 481), resulting in a total sample size of 2636." . _:47132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of genetic and phenotypic data, gathered in 2010 by the scientific expedition Marco Polo (Marcopolo 2010), from healthy people in communities of the Terra Madre network along the Silk Road in Georgia, Armenia, Azerbaijan, Uzbekistan, Kazakhstan and Tajikistan (rural communities, and also cities in Uzbekistan and Kazakhstan), with ethics approval from the IRCCS Burlo Garofolo hospital in Trieste, Italy. It was used to study the genetics of the senses, such as taste, food preferences, hearing and vision, in these isolated populations."; "PMID:24626196", "PMID:25476266", "PMID:26188009"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 496; "people who took part in the Marco Polo 2010 expedition study"; "PMID:24626196"; rdfs:comment "A total of 496 subjects participated in the study (206 males and 290 females), coming from 20 different communities of six countries in the Caucasus and Central Asia: Georgia, Armenia, Azerbaijan, Uzbekistan, Kazakhstan and Tajikistan (Figure 1)." . _:47152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SR"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id Sisters is the NIEHS Sister Study: the ovarian cancer GWAS the id comes from (PMID:28346442) lists it as the OCAC study SIS, funded by the Sister Study's intramural grant Z01 ES044005. Replaced by COHO:0000660 (Sister Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Sisters Study"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The id is used for two different St. Jude samples: ALL patients on its Total Therapy trials (source GWAS) and SJLIFE survivors (sample set PSS003603). SJCRH is the PGS Catalog's id for St. Jude Children's Research Hospital (Memphis, Tennessee) as an institution. In the source GWAS of PGS000077/PGS000788 (PMID:19684603) it denotes the children with acute lymphoblastic leukaemia treated on St. Jude's Total Therapy XIIIB and XV trial protocols. That is a clinical-trial patient series with no cohort name of its own, and the supplement expands the tag only to the hospital's name. In the evaluation sample PSS003603 (PMID:34465587) the same id denotes survivors from the St. Jude Lifetime Cohort Study, which COHO has as COHO:0001120 (SJLIFE). Because the id means the hospital and covers two unrelated samples, it is not a cohort and should not be merged into SJLIFE wholesale. The curator may still add SJCRH as an acronym of COHO:0001120, since the PGS Catalog uses it for SJLIFE in PSS003603. If so, no shared-acronym note is needed, as no other COHO term carries SJCRH. The Children's Oncology Group patients in the same GWAS are tagged COG (COHO:0000771). Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete St. Jude Childrens Research Hospital"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. The PGS Catalog's id SJTU is only the name of Shanghai Jiao Tong University; the Catalog links it to no score or sample set, and the name-search papers are unrelated. In the East Asian diabetes GWAS where the abbreviation appears, SJTU is the contributing institution, not a sample: Hwang et al. 2015 (PMID:25187374) glosses 'SJTU, Shanghai Jiao Tong University; SJTUDS, Shanghai Jiao Tong University Diabetes Study', and the AGEN-T2D supplement (PMID:22158537) lists 'SJTU SJTUDS Chinese 190 198 388 Case-control' and 'SJTU SDIID/SDS' under the institution column. The id therefore names an institution with no study sample of its own. The named sample from there is SJTUDS (E1034 in this batch); the SDIID and SDS samples are separate review names (SDIID is placeholder COHO:0002358; note that the review mapped PGS 'SDS' \"Shanghai Diabetes Study\" to COHO:0001116, the Sikh Diabetes Study, which should be checked). COHO:0000153 'Shanghai Study' (gallbladder carcinoma) is unrelated. Recommend obsoleting placeholder COHO:0002384. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Shanghai Jiao Tong University"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20240; , , ; "PMID:22158537"; "A study of type 2 diabetes and glucose metabolism in Han Chinese run from the Shanghai Diabetes Institute of Shanghai Jiao Tong University. Its participants, probands of type 2 diabetes pedigrees diagnosed before age 40 with normoglycaemic controls over 50 without a family history of diabetes recruited at the institute, and people with normal glucose tolerance drawn from the community-based Shanghai Diabetes Study I and II, were genotyped for East Asian genome-wide association studies of type 2 diabetes and fasting glucose."; 190; 198; 388; "SJTUDS", "Shanghai Jiao Tong University Diabetes"; rdfs:label "Shanghai Jiao Tong University Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20240 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20240; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "Shanghai Jiao Tong University Diabetes Study (SJTUDS) The cases (n = 190) were probands of type 2 diabetic pedigrees with fasting plasma glucose ≥ 7.0 mmol/L and/or 2-h post plasma glucose ≥ 11.1 mmol/L and diagnosed before 40 years old." . _:47172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "All subjects were recruited from Shanghai Diabetes Institute of Shanghai Jiao Tong University." . _:47182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22158537"; "Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians."; "PMID:22158537", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3582398/unicode"; rdfs:comment "Stage 2 subjects included 5,843 cases and 4,574 controls from three independent GWA studies including the BioBank Japan Study (BBJ), the Health2 T2D Study (H2T2DS) and the Shanghai Jiao Tong University Diabetes Study (SJTUDS) for in silico replication analysis." . _:47192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of type 2 diabetes and glucose metabolism in Han Chinese run from the Shanghai Diabetes Institute of Shanghai Jiao Tong University. Its participants, probands of type 2 diabetes pedigrees diagnosed before age 40 with normoglycaemic controls over 50 without a family history of diabetes recruited at the institute, and people with normal glucose tolerance drawn from the community-based Shanghai Diabetes Study I and II, were genotyped for East Asian genome-wide association studies of type 2 diabetes and fasting glucose."; "PMID:25187374", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:471a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 190; "early-onset T2D probands and normoglycaemic controls in the AGEN-T2D GWAS (stage 2)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "SJTU SJTUDS Chinese 190 198 388 Case-control" . _:471b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 198; "early-onset T2D probands and normoglycaemic controls in the AGEN-T2D GWAS (stage 2)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "SJTU SJTUDS Chinese 190 198 388 Case-control" . _:471c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 388; "early-onset T2D probands and normoglycaemic controls in the AGEN-T2D GWAS (stage 2)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1019/MediaObjects/41588_2012_BFng1019_MOESM23_ESM.pdf"; rdfs:comment "SJTU SJTUDS Chinese 190 198 388 Case-control" . _:471d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SJTUDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20249; , ; , ; "PGS001778", "PMID:25855707"; "A hospital-based breast cancer study, supported by the German Cancer Research Center (DKFZ), of women diagnosed with primary in situ or invasive breast cancer at the Städtisches Klinikum Karlsruhe, Germany, from March 1993 to July 2005, with controls selected from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC); it contributes to the Breast Cancer Association Consortium."; 136; 168; "SKKDKFZ", "SKKDKFZS", "St_dtisches Klinikum Karlsruhe Deutsches Krebsforschungszentrum Study"; ; rdfs:label "Städtisches Klinikum Karlsruhe Deutsches Krebsforschungszentrum Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20249 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:471e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20249; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Germany Women diagnosed with primary in situ or invasive breast cancer at the Städtisches Klinikum Karlsruhe from March 1993 to July 2005." . _:471f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754625/supplementaryFiles"; rdfs:comment "Germany Women diagnosed with primary in situ or invasive breast cancer at the Städtisches Klinikum Karlsruhe from March 1993 to July 2005." . _:47202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:47212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25855707"; "Prediction of breast cancer risk based on profiling with common genetic variants."; "PMID:25855707", "https://europepmc.org/api/getPdf?pmcid=PMC4754625"; rdfs:comment "The Städtisches Klinikum Karlsruhe Deutsches Krebsforschungszentrum Study (SKKDKFZS) was supported by the Deutsches Krebsforschungszentrum (DKFZ)." . _:47222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based breast cancer study, supported by the German Cancer Research Center (DKFZ), of women diagnosed with primary in situ or invasive breast cancer at the Städtisches Klinikum Karlsruhe, Germany, from March 1993 to July 2005, with controls selected from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC); it contributes to the Breast Cancer Association Consortium."; "PMID:25855707", "https://europepmc.org/api/getPdf?pmcid=PMC4754625"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 136; "cases and controls genotyped on iCOGS (BCAC), post-QC; no total stated (2005)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Women diagnosed with primary in situ or invasive breast cancer at the Städtisches Klinikum Karlsruhe from March 1993 to July 2005. Cases were 21-93 years of age. Controls selected from GC-HBOC 136 168" . _:47242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 168; "cases and controls genotyped on iCOGS (BCAC), post-QC; no total stated (2005)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Women diagnosed with primary in situ or invasive breast cancer at the Städtisches Klinikum Karlsruhe from March 1993 to July 2005. Cases were 21-93 years of age. Controls selected from GC-HBOC 136 168" . _:47252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SKKDKFZ"; . _:47262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SKKDKFZS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20259; , , ; ; "PMID:28025329"; "A South Korean multi-centre lung cancer study that brings together three previously described case-control studies of ethnic Koreans, the Seoul National University study, the Korea University Medical Center study and the Kyungpook National University Hospital study, which recruited lung cancer patients at university hospitals and a lung cancer research centre and controls from hospital health check-up programmes; it takes part in the Female Lung Cancer Consortium in Asia as one study."; 546; 1082; "SKLCS"; rdfs:label "South Korea Multi-Center Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20259 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20259; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The SKLCS study of lung cancer in Korea consists of several studies conducted at multiple study centers, which have been previously described6-8 , as follows: The SNU study of lung cancer in Korea was conducted between 2001 and 2008 and is described in. The lung cancer patients were recruited from patients at Seoul National University Hospitals in Seoul and Bundang" . _:47282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "SKLCS South Korea 546 419 28 1082" . _:47292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28025329"; "Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations."; "PMID:28025329", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5856088/"; rdfs:comment "These 11 study centres include the Chinese Academy of Medical Sciences Cancer Hospital Study (CAMSCH), the Guangdong Study (GDS), the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC), the Hong Kong Study (HKS), the Hospital-based Epidemiologic Research Program at Aichi Cancer Center (HERPACC), the Japan National Cancer Center (NCC), the South Korea Multi-Center Lung Cancer Study (SKLCS- Korea University, Kyungpook University, Seoul National University Department of Preventive Medicine (SNUPM)), the Chonnam National University Lung Cancer Study (CNUCLS), and the Tianjin Lung Cancer Study (TLCS), which have all been previously described (4,10,38–44)." . _:472a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A South Korean multi-centre lung cancer study that brings together three previously described case-control studies of ethnic Koreans, the Seoul National University study, the Korea University Medical Center study and the Kyungpook National University Hospital study, which recruited lung cancer patients at university hospitals and a lung cancer research centre and controls from hospital health check-up programmes; it takes part in the Female Lung Cancer Consortium in Asia as one study."; "PMID:23143601", "PMID:28025329"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:472b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 546; "never-smoking female lung cancer cases and controls that SKLCS contributed to the 2012 FLCCA GWAS (Supplementary Table 1 columns: all cases, adenocarcinomas, squamous cell carcinomas, controls); no total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "SKLCS South Korea 546 419 28 1082 61.6(11.0) 61.6(10.7) 63.6(11.2) 51.1(14.7) NA*" . _:472c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1082; "never-smoking female lung cancer cases and controls that SKLCS contributed to the 2012 FLCCA GWAS (Supplementary Table 1 columns: all cases, adenocarcinomas, squamous cell carcinomas, controls); no total stated"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "SKLCS South Korea 546 419 28 1082 61.6(11.0) 61.6(10.7) 63.6(11.2) 51.1(14.7) NA*" . _:472d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SKLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20267; , ; ; "PMID:28947836"; "An observational cohort of healthy, singleton, term-born young children from the greater Copenhagen area, Denmark, run by the Department of Nutrition, Exercise and Sports at the University of Copenhagen, which followed them from 9 to 36 months of age: SKOT I enrolled infants selected at random from the Danish Civil Registry in 2007–2008 and examined them at 9, 18 and 36 months, and SKOT II enrolled, under the same protocol, infants of obese mothers from a trial of obese pregnant women at Hvidovre Hospital, to study diet, growth, body composition, development and early determinants of overweight."; 330; "Diet and Thriving in Young Children", "SKOT", "SKOT cohort", "Småbørns Kost Og Trivsel study", "Småbørns Kost og Trivsel"; rdfs:label "Småbørns Kost Og Trivsel"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20267 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:472e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20267; "complementary and young child feeding"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5493126/fullTextXML"; rdfs:comment "The SKOT study was funded by the Danish Directorate for Food, Fisheries and Agri Business (grant no. 3304-FSE-06-0503-1) as part of the project “Complementary and young child feeding (CYCF) – impact on short and long term development of health”." . _:472f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5493126/fullTextXML"; rdfs:comment "based on random selection from the National Danish Civil Registry of infants born in the greater Copenhagen area, 330 children were enrolled in the study between April 2007 and May 2008" . _:47302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28947836"; "Genetic predisposition to adiposity is associated with increased objectively assessed sedentary time in young children."; "PMID:28947836", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5765967/fullTextXML"; rdfs:comment "The participants of the study include 287 Danish children 3 years of age from the Småbørns Kost Og Trivsel I and II (SKOT I and II) studies" . _:47312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational cohort of healthy, singleton, term-born young children from the greater Copenhagen area, Denmark, run by the Department of Nutrition, Exercise and Sports at the University of Copenhagen, which followed them from 9 to 36 months of age: SKOT I enrolled infants selected at random from the Danish Civil Registry in 2007–2008 and examined them at 9, 18 and 36 months, and SKOT II enrolled, under the same protocol, infants of obese mothers from a trial of obese pregnant women at Hvidovre Hospital, to study diet, growth, body composition, development and early determinants of overweight."; "PMID:28666428", "PMID:29961064", "PMID:30887376"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 330; "children enrolled in SKOT I (April 2007 to May 2008), the first of SKOT's two recruitments; no number for SKOT I and II together is stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5493126/fullTextXML"; rdfs:comment "In short, based on random selection from the National Danish Civil Registry of infants born in the greater Copenhagen area, 330 children were enrolled in the study between April 2007 and May 2008 at age 8.5 months and examined at 9, 18, and 36 months." . _:47332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SKOT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20274; , , ; ; "PMID:33385923"; "A hospital-based case-control study of lung cancer in never-smoking ethnic Chinese women in Shenyang, Liaoning Province, northeast China, whose cases had histologically confirmed lung cancer and whose controls were non-smoking women with other lung diseases but free of cancer, frequency-matched to the cases on age; it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; 574; 1024; "SLCS"; rdfs:label "Shenyang Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20274 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20274; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Cases were never smoking females with histologically confirmed lung cancers." . _:47352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The SLCS was carried out in the Liaoning Province in Northeast China and has been previously described9 ." . _:47362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33385923"; "Sub-multiplicative interaction between polygenic risk score and household coal use in relation to lung adenocarcinoma among never-smoking women in Asia."; "PMID:33385923", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8378844/"; rdfs:comment "Our primary analysis included 1,472 lung adenocarcinoma cases and 1,497 controls from the Genetic Epidemiological Study of Lung Adenocarcinoma (GELAC) (Jou et al., 2009), the Shenyang Lung Cancer Study (SLCS) (Yin et al., 2009), and the Shanghai Women’s Health Study (SWHS) (Zhang et al., 2007; Zheng et al., 2005)." . _:47372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of lung cancer in never-smoking ethnic Chinese women in Shenyang, Liaoning Province, northeast China, whose cases had histologically confirmed lung cancer and whose controls were non-smoking women with other lung diseases but free of cancer, frequency-matched to the cases on age; it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; "PMID:20003391", "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 574; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "SLCS Mainland China 574 378 98 1024 56.7(11.7) 56.2(11.5) 58.4(11.1) 52.3(14.8) 487 226 60 37" . _:47392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1024; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "SLCS Mainland China 574 378 98 1024 56.7(11.7) 56.2(11.5) 58.4(11.1) 52.3(14.8) 487 226 60 37" . _:473a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20282; , , ; "PMID:21874001"; "A Sri Lankan type 2 diabetes case-control study whose cases came mostly from the Sri Lankan Young Diabetes Study of patients with early-onset diabetes recruited from the three largest hospitals in Sri Lanka, augmented with diabetes cases from the Sri Lankan Diabetes Cardiovascular Study, and whose controls were participants in the Sri Lankan Diabetes Cardiovascular Study, a cross-sectional nationally representative epidemiological investigation."; 1066; 1576; "SLDS", "Sri Lankan Diabetes Studies"; rdfs:label "Sri Lankan Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20282 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:473b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20282; "type 2 diabetes"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; rdfs:comment "T2D cases were mostly derived from the Sri Lankan Young Diabetes Study (SLYDS)." . _:473c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; rdfs:comment "A total of 992 patients with early onset diabetes (42.1% male) were recruited from the three largest hospitals in Sri Lanka in 2005-2006." . _:473d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21874001"; "Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci."; "PMID:21874001", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3773920/unicode"; rdfs:comment "Replication testing amongst South Asians was carried out amongst 13,170 T2D cases and 25,398 controls participants from the following studies: the Chennai Urban Rural Epidemiology Study (CURES) the COBRA study the Diabetes Genetics in Pakistan (DGP) and UK Asian Diabetes Study (UKADS), the Mauritius study, the Ragama Health Study (RHS), the Sikh Diabetes Study (SDS), the Singapore Consortium of Cohort Studies (SCCS), the Sri Lankan Diabetes Study (SLDS), and the LOLIPOP and PROMIS studies." . _:473e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Sri Lankan type 2 diabetes case-control study whose cases came mostly from the Sri Lankan Young Diabetes Study of patients with early-onset diabetes recruited from the three largest hospitals in Sri Lanka, augmented with diabetes cases from the Sri Lankan Diabetes Cardiovascular Study, and whose controls were participants in the Sri Lankan Diabetes Cardiovascular Study, a cross-sectional nationally representative epidemiological investigation."; "PMID:21874001", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:473f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1066; "Combined SLDS type 2 diabetes cases and SLDCS-derived controls available for genotyping"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; rdfs:comment "Additional exclusion criteria were applied to the combined cases set (GADA ≥ 14units/ml, age ≥80 years, and missing sex information) to generate a total of 1066 cases available for genotyping." . _:47402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1576; "Combined SLDS type 2 diabetes cases and SLDCS-derived controls available for genotyping"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.921/MediaObjects/41588_2011_BFng921_MOESM16_ESM.pdf"; rdfs:comment "DNA collection was only initiated midway through the SLDCS collection, limiting the number of control samples available for genotyping to 1576." . _:47412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20290; , ; "PMID:30326636"; "A longitudinal observational cohort study of systemic lupus erythematosus among the Gullah African Americans of the Sea Island region of South Carolina, United States, run from the Medical University of South Carolina, which enrols self-identified Gullah patients with lupus meeting the American College of Rheumatology classification criteria, their relatives, and unrelated unaffected Gullah controls, to study the genetic and environmental factors that contribute to lupus in this population. It is one of the community-engaged Sea Island Families Project studies."; 605; "SLE in Gullah Health", "SLE in Gullah Health Study", "SLE in Gullah Health study", "SLEIGH", "The Systemic Lupus Erythematosus in Gullah Health study"; rdfs:label "Systemic Lupus Erythematosus in Gullah Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20290 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20290; "systemic lupus erythematosus"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3658981/fullTextXML"; rdfs:comment "The Sea Island Gullah African American population enrolled in the SLE in Gullah Health (SLEIGH) study, an established cohort of African American patients with SLE, is an ideal cohort for defining genetic and environmental risk factors for SLE because of their genetic homogeneity with very low non-African genetic admixture and preserved family unit." . _:47432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8286328/fullTextXML"; rdfs:comment "All self‐identified Gullah African American participants and their parents were born and raised in the Sea Islands region of South Carolina, or South Carolina low country (along the coastal border and 30 miles inland)." . _:47442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30326636"; "An Analytic Approach Using Candidate Gene Selection and Logic Forest to Identify Gene by Environment Interactions (G × E) for Systemic Lupus Erythematosus in African Americans."; "PMID:30326636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6211136/fullTextXML"; rdfs:comment "The SLE study used a case control design, and subjects were selected from people participating in the SLE in Gullah Health (SLEIGH) Study, which began recruitment in 2003" . _:47452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal observational cohort study of systemic lupus erythematosus among the Gullah African Americans of the Sea Island region of South Carolina, United States, run from the Medical University of South Carolina, which enrols self-identified Gullah patients with lupus meeting the American College of Rheumatology classification criteria, their relatives, and unrelated unaffected Gullah controls, to study the genetic and environmental factors that contribute to lupus in this population. It is one of the community-engaged Sea Island Families Project studies."; "PMID:18438839", "PMID:22031537", "PMID:30326636", "PMID:34008864"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 605; "individuals in the SLEIGH cohort (lupus patients, relatives and unrelated controls) at the time of the quality-of-life study published in 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3535475/"; rdfs:comment "Of the 605 total individuals in the SLEIGH cohort, 128 female subjects (91 cases and 37 related controls) attempted the SF-36 with 96 completing the SF-36." . _:47472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLEIGH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20297; , ; "PMID:22504420"; "A cross-sectional, population-based study of osteoporosis in Ljubljana, Slovenia, created within projects funded by the Slovenian Research Agency, that included premenopausal women aged 35 to 50 years and postmenopausal women and men aged over 50 years in order to carry out genotype-phenotype association studies; it was one of the studies de novo genotyped for the replication stage of the 2012 GEFOS genome-wide meta-analysis of bone mineral density and fracture."; 716; "SLO-PREVAL", "Slo-preval"; rdfs:label "Prevalence of osteoporosis in Slovenia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20297 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20297; "osteoporosis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "34 SLO‐PREVAL Prevalence of osteoporosis in Slovenia Cross‐sectional Population‐based Slovenia Ljubljana Central European 716" . _:47492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "34 SLO‐PREVAL Prevalence of osteoporosis in Slovenia Cross‐sectional Population‐based Slovenia Ljubljana Central European 716" . _:474a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22504420"; "Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture."; "PMID:22504420", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "34 SLO‐PREVAL Prevalence of osteoporosis in Slovenia Cross‐sectional Population‐based Slovenia Ljubljana Central European 716" . _:474b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional, population-based study of osteoporosis in Ljubljana, Slovenia, created within projects funded by the Slovenian Research Agency, that included premenopausal women aged 35 to 50 years and postmenopausal women and men aged over 50 years in order to carry out genotype-phenotype association studies; it was one of the studies de novo genotyped for the replication stage of the 2012 GEFOS genome-wide meta-analysis of bone mineral density and fracture."; "PMID:30158200", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:474c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 716; "participants with DNA and BMD and/or fracture data available"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "34 SLO‐PREVAL Prevalence of osteoporosis in Slovenia Cross‐sectional Population‐based Slovenia Ljubljana Central European 716" . _:474d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SLO-PREVAL"; . _:474e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Slo-preval"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20305; , ; "PMID:19377074"; "A population-based case-control study from Leiden, the Netherlands, of men born in the Netherlands, comparing men younger than 70 years who had a first myocardial infarction between 1990 and 1996 with control men without a history of myocardial infarction, frequency-matched on 10-year age groups, used to study coagulation and fibrinolytic factors, their genetic variants and cardiovascular risk factors as risk factors for myocardial infarction."; 560; 646; "SMILE", "Study of Myocardial Infarction in LEiden"; rdfs:label "Study of Myocardial Infarctions Leiden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20305 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:474f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20305; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11123505+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A case-control study including 560 patients with a first myocardial infarction who had survived at least 6 months, plus 646 control subjects." . _:47502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9797027/"; rdfs:comment "In the Study of Myocardial Infarctions Leiden (SMILE), which was a case–control study of men born in the Netherlands, higher FIXc was associated with increased risk of a first MI among men aged < 70 years, with the highest risk being seen among men aged < 55 years [23]." . _:47512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19377074"; "Low thrombin activatable fibrinolysis inhibitor activity levels are associated with an increased risk of a first myocardial infarction in men."; "PMID:19377074", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2688572/"; rdfs:comment "We included 554 men under 70 years old with a first myocardial infarction and 643 controls participating in the Study of Myocardial Infarctions Leiden (SMILE), a case-control study." . _:47522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study from Leiden, the Netherlands, of men born in the Netherlands, comparing men younger than 70 years who had a first myocardial infarction between 1990 and 1996 with control men without a history of myocardial infarction, frequency-matched on 10-year age groups, used to study coagulation and fibrinolytic factors, their genetic variants and cardiovascular risk factors as risk factors for myocardial infarction."; "PMID:16931632", "PMID:17053057", "PMID:19377074", "PMID:28393470"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 560; "SMILE first-myocardial-infarction survivors and population controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11123505+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A case-control study including 560 patients with a first myocardial infarction who had survived at least 6 months, plus 646 control subjects." . _:47542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 646; "SMILE first-myocardial-infarction survivors and population controls"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A11123505+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A case-control study including 560 patients with a first myocardial infarction who had survived at least 6 months, plus 646 control subjects." . _:47552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SMILE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20313; , ; ; "PMID:22286212"; "A population-based series of patients with Hodgkin lymphoma in Scotland and northern England, collected through the Scotland and Newcastle Lymphoma Group, a clinical collaborative group that registered lymphoma patients in these regions prospectively on a shared database from 1979; the genetic series comprises the Scotland and Newcastle Epidemiological Study of Hodgkin's Disease, a case–control study conducted in 1993–1997, and a local case series collected prospectively in 1992–2008, and its cases were genotyped in European genome-wide association studies of classical Hodgkin lymphoma."; 282; 32; "SNLG", "Scotland and Newcastle Lymphoma Group series"; rdfs:label "Scotland and Newcastle Lymphoma Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20313 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20313; "Hodgkin lymphoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "The Scotland and Newcastle Lymphoma Group includes the Scotland and Newcastle Epidemiological Study of Hodgkin's Disease, which is a case–control study conducted in Scotland and Northern England between January 1993 and July 1997 (6), and the “local case series,” a prospectively collected series of patients within those regions between January 1992 and March 2008 (9)." . _:47572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "The Scotland and Newcastle Lymphoma Group includes the Scotland and Newcastle Epidemiological Study of Hodgkin's Disease, which is a case–control study conducted in Scotland and Northern England between January 1993 and July 1997 (6), and the “local case series,” a prospectively collected series of patients within those regions between January 1992 and March 2008 (9)." . _:47582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22286212"; "Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups."; "PMID:22286212", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "Genome-wide genotyping was performed on cHL case samples from five European-based HL studies: the EPILYMPH Study, the Scotland and Newcastle Lymphoma Group, the Young Adult Hodgkin’s Disease Case–Control Study, the Scandinavian Lymphoma Etiology Study, and the Northern Dutch Hodgkin Lymphoma Study (Table 1)." . _:47592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based series of patients with Hodgkin lymphoma in Scotland and northern England, collected through the Scotland and Newcastle Lymphoma Group, a clinical collaborative group that registered lymphoma patients in these regions prospectively on a shared database from 1979; the genetic series comprises the Scotland and Newcastle Epidemiological Study of Hodgkin's Disease, a case–control study conducted in 1993–1997, and a local case series collected prospectively in 1992–2008, and its cases were genotyped in European genome-wide association studies of classical Hodgkin lymphoma."; "PMID:15359994", "PMID:2069849", "PMID:22286212"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:475a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 282; "SNLG Hodgkin lymphoma replication contribution in the 2012 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "Scotland and Newcastle Lymphoma Group, 1992–2008‡ United Kingdom 81 167 34 282 NA 32" . _:475b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32; "SNLG Hodgkin lymphoma replication contribution in the 2012 GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "Scotland and Newcastle Lymphoma Group, 1992–2008‡ United Kingdom 81 167 34 282 NA 32" . _:475c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNLG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20321; , ; ; "PGS000742", "PMID:33623038"; "A hospital-based case-control study of prostate cancer at Ghent University Hospital, Belgium, whose cases are men treated with intensity-modulated radiotherapy as primary or postoperative treatment for prostate cancer at the hospital between 2000 and 2010, first genotyped to study genetic markers of radiation toxicity, and whose controls are employees of the hospital and members of social activity clubs without a history of any cancer."; 316; 135; 451; "RGC-UGhent cohort", "SNP Prostate Ghent (Belgium)", "SNP_Prostate_Ghent", "UGhent", "UGhent-PrCa"; ; rdfs:label "SNP Prostate Ghent"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20321 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:475d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20321; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SNP_Prostate_Ghent (n=451) SNP Prostate Ghent Ghent, Belgium Hospital- based, observational 135 316 243 1 451 0 0 393 0.5033 [0.2725, 0.7168] 65.4 [60.6, 70.3] 68.8 [62.8, 75.0]" . _:475e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SNP_Prostate_Ghent (n=451) SNP Prostate Ghent Ghent, Belgium" . _:475f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:47602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SNP_Prostate_Ghent (n=451) SNP Prostate Ghent Ghent, Belgium" . _:47612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of prostate cancer at Ghent University Hospital, Belgium, whose cases are men treated with intensity-modulated radiotherapy as primary or postoperative treatment for prostate cancer at the hospital between 2000 and 2010, first genotyped to study genetic markers of radiation toxicity, and whose controls are employees of the hospital and members of social activity clubs without a history of any cancer."; "PMID:22658438", "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 316; "SNP Prostate Ghent genetic sample in the 2021 study table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SNP_Prostate_Ghent (n=451) SNP Prostate Ghent Ghent, Belgium Hospital- based, observational 135 316 243 1 451 0 0 393 0.5033 [0.2725, 0.7168] 65.4 [60.6, 70.3] 68.8 [62.8, 75.0]" . _:47632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 135; "SNP Prostate Ghent genetic sample in the 2021 study table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SNP_Prostate_Ghent (n=451) SNP Prostate Ghent Ghent, Belgium Hospital- based, observational 135 316 243 1 451 0 0 393 0.5033 [0.2725, 0.7168] 65.4 [60.6, 70.3] 68.8 [62.8, 75.0]" . _:47642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 451; "SNP Prostate Ghent genetic sample in the 2021 study table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SNP_Prostate_Ghent (n=451) SNP Prostate Ghent Ghent, Belgium Hospital- based, observational 135 316 243 1 451 0 0 393 0.5033 [0.2725, 0.7168] 65.4 [60.6, 70.3] 68.8 [62.8, 75.0]" . _:47652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNP_Prostate_Ghent"; . _:47662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UGhent"; . _:47672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UGhent-PrCa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20333; , ; "PMID:20159113"; "A Finnish case-control sample of multiple sclerosis patients with both parents, or one parent and a family history of multiple sclerosis, from Southern Ostrobothnia, the internal isolate on the western coast of Finland with an increased prevalence and familial clustering of multiple sclerosis, and population-based controls, drawn from the Health 2000 project, matched to them by genome-wide identity-by-state sharing and parental birthplace, that formed the genome-wide association stage of a 2010 study of multiple sclerosis in that isolate."; 68; 136; "SO", "Southern Ostrobothnia (SO) isolate GWAS"; rdfs:label "Southern Ostrobothnia isolate GWAS"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20333 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20333; "multiple sclerosis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "We included in our GWAS 72 cases with either both parents from the high-risk isolate or one parent from the isolate and positive family history of MS and genotyped them with the Illumina HumanHap300 chip." . _:47692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "MS samples included in the genome-wide analysis originated from the MS high-risk isolate located on the western coast of Finland (Southern Ostrobothnia, SO) with ∼2-fold prevalence and higher familial clustering of MS compared to other regions of Finland." . _:476a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20159113"; "Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene."; "PMID:20159113", "https://europepmc.org/api/getPdf?pmcid=PMC2820168"; rdfs:comment "Southern Ostrobothnia (SO) isolate GWASa 68 136 Illumina HumanHap300 or Illumina Human610-quad" . _:476b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Finnish case-control sample of multiple sclerosis patients with both parents, or one parent and a family history of multiple sclerosis, from Southern Ostrobothnia, the internal isolate on the western coast of Finland with an increased prevalence and familial clustering of multiple sclerosis, and population-based controls, drawn from the Health 2000 project, matched to them by genome-wide identity-by-state sharing and parental birthplace, that formed the genome-wide association stage of a 2010 study of multiple sclerosis in that isolate."; "PMID:20159113"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:476c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 68; "multiple sclerosis cases and IBS-matched population controls of the final genome-wide set"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "We selected the two closest IBS-matched controls for each case, and the final GWAS set (isolate GWAS) consisted of 68 cases and 136 controls." . _:476d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 136; "multiple sclerosis cases and IBS-matched population controls of the final genome-wide set"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2820168/"; rdfs:comment "We selected the two closest IBS-matched controls for each case, and the final GWAS set (isolate GWAS) consisted of 68 cases and 136 controls." . _:476e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20341; , ; ; "PMID:23513043"; "A hospital-based, case-only series of women with epithelial ovarian cancer in the Wessex region of southern England, made up of consecutive patients who underwent primary surgery at hospitals in the region between 1993 and 1998, that takes part in the Ovarian Cancer Association Consortium under the study code SOC."; 295; 295; "SOC", "SOCS"; rdfs:label "Southampton Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20341 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:476f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20341; "epithelial ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; rdfs:comment "SOCS cases represent a sequential series of patients undergoing primary surgery or epithelial ovarian cancer at hospitals in the Wessex region of Southern England between 1993 and 1998" . _:47702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "SOC Southampton Ovarian Cancer Study United Kingdom, Wessex region Hospital" . _:47712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23513043"; "Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome."; "PMID:23513043", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "SOC Southampton Ovarian Cancer Study United Kingdom, Wessex region Hospital" . _:47722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based, case-only series of women with epithelial ovarian cancer in the Wessex region of southern England, made up of consecutive patients who underwent primary surgery at hospitals in the region between 1993 and 1998, that takes part in the Ovarian Cancer Association Consortium under the study code SOC."; "PMID:21639959", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.668/MediaObjects/41588_2010_BFng668_MOESM17_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 295; "SOC case-only subjects passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Southampton Ovarian Cancer Study SOC United Kingdom, Wessex region Case only/ Hospital based 295 0 97.2 266(102)" . _:47742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 295; "SOC case-only subjects passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Southampton Ovarian Cancer Study SOC United Kingdom, Wessex region Case only/ Hospital based 295 0 97.2 266(102)" . _:47752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOC"; . _:47762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20350; , ; "PMID:20719408"; "A case–control collection of Irish patients with sporadic amyotrophic lateral sclerosis, diagnosed by consultant neurologists by the El Escorial criteria and drawn from across the island of Ireland, and unrelated neurologically normal controls, all reporting Irish ancestry for at least three generations, assembled in Dublin (Beaumont Hospital, Trinity College and University College Dublin) for a genome-wide association study of susceptibility to sporadic ALS in the Irish population, and later used for whole-genome sequencing of an Irish control."; 221; 211; 432; "SIALS", "SoIA", "Study of Irish Amyotrophic", "study of Irish Amyotrophic Lateral Sclerosis"; rdfs:label "Study of Irish Amyotrophic Lateral Sclerosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20350 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20350; "sporadic amyotrophic lateral sclerosis"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000127.v2.p1"; rdfs:comment "This study utilized samples from Irish patients with sporadic ALS and Irish control individuals." . _:47782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000127.v2.p1"; rdfs:comment "All 221 cases were diagnosed by a Consultant neurologist in Ireland." . _:47792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20719408"; "No association between DNA repair gene XRCC1 and amyotrophic lateral sclerosis."; "PMID:20719408", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3005140/"; rdfs:comment "We examined the association between ALS risk and single nucleotide polymorphisms (SNPs) in the gene x-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1) utilizing data from a case-control study and two genome-wide association studies (the Study of Irish Amyotrophic Lateral Sclerosis and the NINDS genome-wide study in Amyotrophic Lateral Sclerosis and Neurologically Normal Controls)." . _:477a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control collection of Irish patients with sporadic amyotrophic lateral sclerosis, diagnosed by consultant neurologists by the El Escorial criteria and drawn from across the island of Ireland, and unrelated neurologically normal controls, all reporting Irish ancestry for at least three generations, assembled in Dublin (Beaumont Hospital, Trinity College and University College Dublin) for a genome-wide association study of susceptibility to sporadic ALS in the Irish population, and later used for whole-genome sequencing of an Irish control."; "PMID:20719408", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000127.v2.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:477b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 221; "consented subjects of the Irish sporadic ALS GWAS (SALS patients and neurologically normal controls)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000127.v2.p1"; rdfs:comment "Genotyping data are available on 221 SALS patients and 211 controls." . _:477c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 211; "consented subjects of the Irish sporadic ALS GWAS (SALS patients and neurologically normal controls)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000127.v2.p1"; rdfs:comment "Genotyping data are available on 221 SALS patients and 211 controls." . _:477d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 432; "consented subjects of the Irish sporadic ALS GWAS (SALS patients and neurologically normal controls)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000127.v2.p1"; rdfs:comment "Total number of consented subjects: 432" . _:477e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SIALS"; . _:477f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SoIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20360; "PGS000016", "PMID:33185476"; "A randomised, double-blind, placebo-controlled, multicentre trial that enrolled patients with an acute coronary syndrome in 36 countries between 2009 and 2011, to determine the clinical benefit of direct inhibition of lipoprotein-associated phospholipase A2 with darapladib versus placebo."; 13026; "SOLID-TIMI 52", "SOLID-TIMI_52", "Stabilization of Plaques Using Darapladib", "Stabilization of Plaques Using Darapladib-Thrombolysis in Myocardial Infarction 52", "The Stabilization of PLaques UsIng Darapladib-Thrombolysis in Myocardial Infarction 52 Trial", "The Stabilization of pLaques usIng Darapladib-Thrombolysis in Myocardial Infarction"; ; rdfs:label "Stabilization of pLaques usIng Darapladib-Thrombolysis in Myocardial Infarction"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20360 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20360; "acute coronary syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25173516+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SOLID-TIMI 52 was a multinational, double-blind, placebo-controlled trial that randomized 13,026 participants within 30 days of hospitalization with an ACS (non-ST-elevation or ST-elevation myocardial infarction [MI]) at 868 sites in 36 countries." . _:47812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000016"; "A polygenic risk score predicts atrial fibrillation in cardiovascular disease."; "PMID:35980763" . _:47822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33185476"; "Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients With Cardiometabolic Disease."; "PMID:33185476", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7856243/unicode"; rdfs:comment "We performed a genetic cohort analysis pooling individual patient-level data from five cardiovascular clinical trials: ENGAGE AF-TIMI 48, SOLID-TIMI 52, SAVOR-TIMI 53, PEGASUS-TIMI 54, and FOURIER." . _:47832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled, multicentre trial that enrolled patients with an acute coronary syndrome in 36 countries between 2009 and 2011, to determine the clinical benefit of direct inhibition of lipoprotein-associated phospholipase A2 with darapladib versus placebo."; "PMID:21982651", "PMID:25173516", "PMID:28077384"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:47842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13026; "SOLID-TIMI 52 randomized acute-coronary-syndrome patients"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25173516+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SOLID-TIMI 52 was a multinational, double-blind, placebo-controlled trial that randomized 13,026 participants within 30 days of hospitalization with an ACS (non-ST-elevation or ST-elevation myocardial infarction [MI]) at 868 sites in 36 countries." . _:47852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOLID-TIMI 52"; . _:47862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOLID-TIMI_52"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20368, _:genid-371333f489424440b12a13b9d98ced822608-genid20370, _:genid-371333f489424440b12a13b9d98ced822608-genid20372; , ; ; "PMID:23339562"; "A population-based case–control study of epithelial ovarian cancer in metropolitan Toronto and nearby areas of southern Ontario, Canada, which from 1989 to 1992 interviewed women aged 35–79 with newly diagnosed, histologically confirmed malignant or borderline epithelial ovarian tumours, identified through the Ontario Cancer Registry, and randomly selected population controls frequency-matched to them on age, about their reproductive history and diet. It is one of the case–control studies of the Ovarian Cancer Association Consortium."; 450; 564; "SON", "Southern Ontario Study of Reproduction, Diet and Health"; rdfs:label "Southern Ontario Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20368 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20370 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20372 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20368; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8072035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From the Ontario Cancer Registry, all histologically confirmed, primary malignant or borderline malignant epithelial ovarian tumors first diagnosed from November 1989 through October 1992 among study-area residents aged 35-79 years were determined." . _:47882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20370; "borderline malignant epithelial ovarian tumors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8072035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From the Ontario Cancer Registry, all histologically confirmed, primary malignant or borderline malignant epithelial ovarian tumors first diagnosed from November 1989 through October 1992 among study-area residents aged 35-79 years were determined." . _:47892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20372; "saturated fat intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8072035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our purpose was to evaluate whether saturated fat intake increases the risk of ovarian cancer development." . _:478a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7942759+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A case-control study of reproductive factors and cancer of the ovary was conducted during 1989-1992 in metropolitan Toronto and nearby areas of Southern Ontario, Canada." . _:478b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23339562"; "Recent alcohol consumption and risk of incident ovarian carcinoma: a pooled analysis of 5,342 cases and 10,358 controls from the Ovarian Cancer Association Consortium."; "PMID:23339562", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3568733/fullTextXML"; rdfs:comment "Daily alcohol intake was estimated using validated food frequency questionnaires (FFQs) in AUS [60], DOV [61], HAW [62], MAL, NEC [63], NJO [51] and SON [53]." . _:478c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case–control study of epithelial ovarian cancer in metropolitan Toronto and nearby areas of southern Ontario, Canada, which from 1989 to 1992 interviewed women aged 35–79 with newly diagnosed, histologically confirmed malignant or borderline epithelial ovarian tumours, identified through the Ontario Cancer Registry, and randomly selected population controls frequency-matched to them on age, about their reproductive history and diet. It is one of the case–control studies of the Ovarian Cancer Association Consortium."; "PMID:23339562", "PMID:36688720", "PMID:7942759", "PMID:8072035"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:478d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 450; "interviewed cases and population controls in the Southern Ontario study, 1989-1992"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8072035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In total, 631 eligible case subjects were identified, of whom 450 (71.3%) were interviewed concerning reproduction and diet; 564 randomly selected population control subjects were similarly interviewed." . _:478e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 564; "interviewed cases and population controls in the Southern Ontario study, 1989-1992"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A8072035+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In total, 631 eligible case subjects were identified, of whom 450 (71.3%) were interviewed concerning reproduction and diet; 564 randomly selected population control subjects were similarly interviewed." . _:478f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20380; , ; "PGS000866", "PMID:29280273"; "A prospective, controlled intervention study in Sweden in which severely obese adults aged 37 to 60, recruited between 1987 and 2001, either underwent bariatric surgery or received usual obesity care as a matched control group, and were followed long term for the effects of surgically induced weight loss."; 4047; "SOS", "Swedish Obese Subjects study"; ; rdfs:label "Swedish Obese Subjects Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20380 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20380; "severe obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5900872/fullTextXML"; rdfs:comment "The SOS is a prospective study comparing the effects of bariatric surgery and usual care in severely obese individuals in Sweden 22." . _:47912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5900872/fullTextXML"; rdfs:comment "The SOS is a prospective study comparing the effects of bariatric surgery and usual care in severely obese individuals in Sweden 22." . _:47922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000866"; "Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver."; "PMID:29280273" . _:47932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29280273"; "Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver."; "PMID:29280273", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29280273+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We evaluated complementary cohorts of at-risk individuals and individuals from the general population: 1515 from the liver biopsy cohort (LBC), 3329 from the Swedish Obese Subjects Study (SOS) and 4570 from the population-based Dallas Heart Study (DHS)." . _:47942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, controlled intervention study in Sweden in which severely obese adults aged 37 to 60, recruited between 1987 and 2001, either underwent bariatric surgery or received usual obesity care as a matched control group, and were followed long term for the effects of surgically induced weight loss."; "PMID:17715408", "PMID:29280273", "PMID:42001100"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4047; "individuals with obesity included 1987-2001 (surgery group and matched usual-care control group)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13093930/fullTextXML"; rdfs:comment "Between September 1, 1987, and January 31, 2001, a total of 4047 individuals with obesity were included in the study, which was conducted at 25 public surgical departments and 480 primary health-care centers across Sweden." . _:47962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SOS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20388; , ; "PGS000742", "PMID:33623038"; "A hospital-based, retrospective, observational case-control study of men from Guernsey, with prostate cancer cases and controls drawn from the island's population and the study run from Manchester and Southampton, UK, to look for serum proteomic biomarkers of aggressive prostate cancer."; 39; 172; 211; "SPAG"; ; rdfs:label "Serum Proteomic analysis for biomarkers of Aggressive prostate disease in the Guernsey population"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20388 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20388; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SPAG (n=211) Serum Proteomic analysis for biomarkers of Aggressive prostate disease in the Guernsey population Manchester / Southampton, UK Hospital- based, observational 172 39 30 1 210 1 0 10 0.4637 [0.2589, 0.658] 66.1 [62.1, 68.5] 68.6 [62.8, 74.4]" . _:47982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000742"; "Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer."; "PMID:33420416" . _:47992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SPAG (n=211) Serum Proteomic analysis for biomarkers of Aggressive prostate disease in the Guernsey population Manchester / Southampton, UK Hospital- based, observational" . _:479a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based, retrospective, observational case-control study of men from Guernsey, with prostate cancer cases and controls drawn from the island's population and the study run from Manchester and Southampton, UK, to look for serum proteomic biomarkers of aggressive prostate cancer."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41391-020-00311-2/MediaObjects/41391_2020_311_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:479b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 39; "SPAG genetic sample in the 2021 study table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SPAG (n=211) Serum Proteomic analysis for biomarkers of Aggressive prostate disease in the Guernsey population Manchester / Southampton, UK Hospital- based, observational 172 39 30 1 210 1 0 10 0.4637 [0.2589, 0.658] 66.1 [62.1, 68.5] 68.6 [62.8, 74.4]" . _:479c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 172; "SPAG genetic sample in the 2021 study table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SPAG (n=211) Serum Proteomic analysis for biomarkers of Aggressive prostate disease in the Guernsey population Manchester / Southampton, UK Hospital- based, observational 172 39 30 1 210 1 0 10 0.4637 [0.2589, 0.658] 66.1 [62.1, 68.5] 68.6 [62.8, 74.4]" . _:479d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 211; "SPAG genetic sample in the 2021 study table"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "SPAG (n=211) Serum Proteomic analysis for biomarkers of Aggressive prostate disease in the Guernsey population Manchester / Southampton, UK Hospital- based, observational 172 39 30 1 210 1 0 10 0.4637 [0.2589, 0.658] 66.1 [62.1, 68.5] 68.6 [62.8, 74.4]" . _:479e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPAG"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The paper's supplement (the likely source of the Catalog's full name) could not be downloaded, even through the watcher; the identification rests on the hospitals named, the paper's acknowledgement and the Catalog's cohort list. The PGS Catalog's 'Spain' ('The Spanish study (University Hospital of Bellvitge, Hospital of Leon)') is the colorectal cancer case-control study that COHO already has as CRCGEN (COHO:0000585, Colorectal Cancer Genetics & Genomics). CRCGEN's own paper (PMC8574048) says its second component 'was conducted in parallel in the University Hospital of Bellvitge and in the Hospital of León, León, during 2007–2015', exactly the two hospitals the Catalog names, and the PGS Catalog paper PMID:31866242 acknowledges 'CRCGEN: Colorectal Cancer Genetics & Genomics, Spanish study' (COHO:0000585 already carries that phrase as a synonym). The other Spanish sample in that score (EPICOLON, Hospital Clínic Barcelona) has its own Catalog id. Add the Catalog name as a synonym and 'Spain' as an acronym of COHO:0000585 (no other COHO term uses 'Spain' as an acronym, so no editor note is needed); obsolete placeholder COHO:0002403 in its favour. Replaced by COHO:0000585 (Colorectal Cancer Genetics & Genomics), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete The Spanish study (University Hospital of Bellvitge, Hospital of Leon)"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20397; , ; ; "PMID:35933486"; "A Spanish study of the molecular pathways and genetic predisposition behind the acute inflammatory response to SARS-CoV-2, run from the GENYO Centre for Genomics and Oncological Research in Granada, whose participants, patients with laboratory-confirmed SARS-CoV-2 infection whose blood was sampled on arrival at the emergency ward of the Hospital Clínico Universitario de Valladolid (from March 2020) or the Hospital Regional Universitario de Málaga (from August 2020), together with SARS-CoV-2 PCR-negative individuals, were genotyped on the Illumina Infinium Global Screening Array and profiled for whole-blood DNA methylation; it contributed to the COVID-19 Host Genetics Initiative."; 473; 101; "SPGRX", "SPGRX cohort", "SPGRX study"; rdfs:label "Determining the Molecular Pathways and Genetic Predisposition of the Acute Inflammatory Process Caused by SARS-CoV-2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20397 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:479f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20397; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9357033/fullTextXML"; rdfs:comment "Whole blood samples from SARS-CoV-2 RT-PCR negative (101) and positive lab tested individuals (473) were obtained from two clinical centers (Hospital Clínico Universitario de Valladolid, discovery cohort and Hospital Regional Universitario de Málaga, replication cohort)." . _:47a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10847137/fullTextXML"; rdfs:comment "In this study, we included a total of 3904 European COVID-19 patients recruited in Italy (GEN-COVID and, in part, Hostage series), Spain (Hostage and SPGRX), Sweden (SWECOVID) and Belgium (BelCovid) (Table 1)." . _:47a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35933486"; "Whole blood DNA methylation analysis reveals respiratory environmental traits involved in COVID-19 severity following SARS-CoV-2 infection."; "PMID:35933486", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9357033/fullTextXML"; rdfs:comment "The genotype data generated (SPGRX cohort) in this study have been deposited in the European Genome-phenome Archive (EGA) database under accession code EGAS00001005304." . _:47a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Spanish study of the molecular pathways and genetic predisposition behind the acute inflammatory response to SARS-CoV-2, run from the GENYO Centre for Genomics and Oncological Research in Granada, whose participants, patients with laboratory-confirmed SARS-CoV-2 infection whose blood was sampled on arrival at the emergency ward of the Hospital Clínico Universitario de Valladolid (from March 2020) or the Hospital Regional Universitario de Málaga (from August 2020), together with SARS-CoV-2 PCR-negative individuals, were genotyped on the Illumina Infinium Global Screening Array and profiled for whole-blood DNA methylation; it contributed to the COVID-19 Host Genetics Initiative."; "PMID:33846372", "PMID:34237774", "PMID:35933486"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 473; "SARS-CoV-2 RT-PCR positive (cases) and negative (controls) individuals sampled at the Valladolid (March-April 2020) and Málaga (August-October 2020) hospitals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9357033/fullTextXML"; rdfs:comment "Whole blood samples from SARS-CoV-2 RT-PCR negative (101) and positive lab tested individuals (473) were obtained from two clinical centers (Hospital Clínico Universitario de Valladolid, discovery cohort and Hospital Regional Universitario de Málaga, replication cohort)." . _:47a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 101; "SARS-CoV-2 RT-PCR positive (cases) and negative (controls) individuals sampled at the Valladolid (March-April 2020) and Málaga (August-October 2020) hospitals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9357033/fullTextXML"; rdfs:comment "Whole blood samples from SARS-CoV-2 RT-PCR negative (101) and positive lab tested individuals (473) were obtained from two clinical centers (Hospital Clínico Universitario de Valladolid, discovery cohort and Hospital Regional Universitario de Málaga, replication cohort)." . _:47a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPGRX"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. 'SPORE' is the PGS Catalog's id for prostate cancer cases drawn from the Pathology Core (tissue/biospecimen resource) of Northwestern University's Prostate Cancer Specialized Program of Research Excellence, an NCI-funded research programme, not a study. The Catalog's full name is the wording deCODE uses for its US (Chicago) replication sample (PMID:26740556: cases recruited from the Pathology Core May 2002 to May 2010, controls from University of Chicago and Northwestern genetic studies), which has no study name of its own. The Catalog links the id to no score. No COHO term matches (COHO:0000790 NUgene is Northwestern's biobank, a different resource; the review decided 'Chicago' as an institution label). Same reasoning as the review's decisions for Chicago, UPENN and MSKCC: recommend obsoleting placeholder COHO:0002405. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Northwestern Universitys Prostate Cancer Specialized Program of Research Excellence"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20405; , , , , , , , , , , ; "PGS000665", "PMID:20446946"; "A randomised, multicentre phase III secondary-prevention trial in patients with recent, MRI-confirmed symptomatic lacunar (small subcortical) stroke, recruited between 2003 and 2011 at clinical centres in North America, Latin America and Spain, which tested in a two-by-two factorial design aspirin plus clopidogrel against aspirin alone and a lower against a higher systolic blood-pressure target for preventing recurrent stroke."; 3020; "SPS3", "Secondary Prevention of Small Subcortical Strokes trial"; ; rdfs:label "Secondary Prevention of Small Subcortical Strokes"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20405 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20405; "small vessel ischaemic stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20446946+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SPS3 is an ongoing Phase III multicentre secondary prevention trial focused on preventing recurrent stroke in patients with small vessel ischaemic stroke, or lacunes." . _:47a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Argentina, 5sites(n =45)" . _:47a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Canada, 8 sites (n = 283)" . _:47a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Chile,2 sites(n =127)" . _:47aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Ecuador, 1site(n=171" . _:47ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Mexico, 4 sites (n = 165)" . _:47ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Peru, 1 site(n =186)" . _:47ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Spain, 10sites(n =366)" . _:47ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "United States, 50 sites (n=1677)" . _:47af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000665"; "Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients With Cardiometabolic Disease."; "PMID:33185476" . _:47b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20446946"; "The Levels of Inflammatory Markers in the Treatment of Stroke study (LIMITS): inflammatory biomarkers as risk predictors after lacunar stroke."; "PMID:20446946", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20446946+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "SPS3 is an ongoing Phase III multicentre secondary prevention trial focused on preventing recurrent stroke in patients with small vessel ischaemic stroke, or lacunes." . _:47b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, multicentre phase III secondary-prevention trial in patients with recent, MRI-confirmed symptomatic lacunar (small subcortical) stroke, recruited between 2003 and 2011 at clinical centres in North America, Latin America and Spain, which tested in a two-by-two factorial design aspirin plus clopidogrel against aspirin alone and a lower against a higher systolic blood-pressure target for preventing recurrent stroke."; "PMID:20446946", "PMID:22931315", "PMID:23726159"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3020; "SPS3 randomized participants with recent symptomatic MRI-defined lacunar infarcts (2011)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979302/"; rdfs:comment "Between 2003 and 2011, 3020 participants were entered from North America (n=1960; 65%), Latin America (n=694; 23%) and Spain (n=366; 12%) and followed for a mean of 3.7 (range 0–8.6; ±SD 2) years" . _:47b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPS3"; . a owl:NamedIndividual, ; ; "The acronym SR also denotes Silk Road (COHO:0002381); this term is Stroke Registry."@en; "SR"; ; rdfs:label "Stroke Registry"@en . _:47b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20421, _:genid-371333f489424440b12a13b9d98ced822608-genid20423; , , , ; ; "PMID:17925548"; "An international multicentre phase III randomised trial (SCOTROC1) of first-line docetaxel-carboplatin versus paclitaxel-carboplatin chemotherapy for stage Ic–IV epithelial ovarian or primary peritoneal cancer, coordinated through a clinical trials unit in Glasgow and recruiting patients in the United Kingdom, elsewhere in Europe, the United States and Australasia, whose patients were followed for progression-free and overall survival and whose DNA has been used in pharmacogenetic studies and in the Ovarian Cancer Association Consortium's studies of ovarian cancer outcome."; 1077; "SCOTROC I", "SCOTROC-1", "SCOTROC1", "SRO", "SRTOC", "Scottish Randomised Trial in Ovarian Cancer I", "Scottish Randomised Trial in Ovarian Cancer study"; rdfs:label "Scottish Randomised Trial in Ovarian Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20421 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20423 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20421; "epithelial ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15547181+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared the combination of docetaxel-carboplatin with the combination of paclitaxel-carboplatin as first-line chemotherapy for stage Ic-IV epithelial ovarian or primary peritoneal cancer." . _:47b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20423; "primary peritoneal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15547181+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared the combination of docetaxel-carboplatin with the combination of paclitaxel-carboplatin as first-line chemotherapy for stage Ic-IV epithelial ovarian or primary peritoneal cancer." . _:47b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16314640+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "One thousand seventy-seven patients were recruited (UK, n = 689; Europe, United States, and Australasia, n = 388)." . _:47b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17925548"; "Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer."; "PMID:17925548", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17925548+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We assessed 27 selected polymorphisms based on previously described associations or putative functional effects in 16 key genes from pathways that may influence cellular sensitivity to taxanes (ABCB1, ABCC1, ABCC2, ABCG2, CDKN1A, CYP1B1, CYP2C8, CYP3A4, CYP3A5, MAPT, and TP53) and platinum (ABCC2, ABCG2, ERCC1, ERCC2, GSTP1, MPO, and XRCC1) using polymerase chain reaction and Pyrosequencing in 914 ovarian cancer patients from the Scottish Randomised Trial in Ovarian Cancer phase III trial who were treated at presentation with carboplatin and taxane regimens after cytoreductive surgery." . _:47b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international multicentre phase III randomised trial (SCOTROC1) of first-line docetaxel-carboplatin versus paclitaxel-carboplatin chemotherapy for stage Ic–IV epithelial ovarian or primary peritoneal cancer, coordinated through a clinical trials unit in Glasgow and recruiting patients in the United Kingdom, elsewhere in Europe, the United States and Australasia, whose patients were followed for progression-free and overall survival and whose DNA has been used in pharmacogenetic studies and in the Ovarian Cancer Association Consortium's studies of ovarian cancer outcome."; "PMID:15547181", "PMID:16314640", "PMID:17925548", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; "GPT-6 (OpenAI), 2026-09" . _:47ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1077; "SCOTROC1 patients randomized to first-line chemotherapy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15547181+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 1077 patients to receive docetaxel at 75 mg/m2 of body surface area (1-hour intravenous infusion) or paclitaxel at 175 mg/m2 (3-hour intravenous infusion)." . _:47bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOTROC I"; . _:47bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOTROC-1"; . _:47bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SCOTROC1"; . _:47be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRO"; . _:47bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SRTOC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20434; , ; "PMID:22784820"; "A case-control study of ischaemic cerebrovascular disease in southern Stockholm, Sweden, whose stroke patients underwent clinical investigation and standardised blood tests and whose patients and controls were genotyped for 100 polymorphisms in 47 candidate susceptibility genes to study the genetic profile of ischaemic stroke and its subtypes."; 928; 602; "SSISS"; rdfs:label "South Stockholm Ischemic Stroke Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20434 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20434; "ischaemic cerebrovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22784820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the South Stockholm Ischemic Stroke Study, 928 ICVD patients and 602 controls were genotyped for 100 different gene polymorphisms." . _:47c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22784820"; "Ischemic stroke and patent foramen ovale: risk factors and genetic profile."; "PMID:22784820", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22784820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the South Stockholm Ischemic Stroke Study, 928 ICVD patients and 602 controls were genotyped for 100 different gene polymorphisms." . _:47c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of ischaemic cerebrovascular disease in southern Stockholm, Sweden, whose stroke patients underwent clinical investigation and standardised blood tests and whose patients and controls were genotyped for 100 polymorphisms in 47 candidate susceptibility genes to study the genetic profile of ischaemic stroke and its subtypes."; "PMID:22784820"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 928; "SSISS patients and controls genotyped for 100 polymorphisms in the 2012 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22784820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the South Stockholm Ischemic Stroke Study, 928 ICVD patients and 602 controls were genotyped for 100 different gene polymorphisms." . _:47c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 602; "SSISS patients and controls genotyped for 100 polymorphisms in the 2012 report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22784820+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the South Stockholm Ischemic Stroke Study, 928 ICVD patients and 602 controls were genotyped for 100 different gene polymorphisms." . _:47c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SSISS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20441; , ; ; "PMID:34237774"; "A COVID-19 pandemic-tracking study at Stanford Health Care in northern California that, from March to July 2020, collected the residual nasopharyngeal swab media of clinical SARS-CoV-2 tests from approximately consecutive SARS-CoV-2-positive and -negative patients, linked them to electronic health record data, and sequenced the patients' genomes at low coverage together with viral genomes and transcriptomes, to study host genetic, viral and clinical correlates of COVID-19 severity; it contributed its host genetic data to the COVID-19 Host Genetics Initiative."; 736; 313; 1049; "Stanford"; rdfs:label "Genomic epidemiology of SARS-Cov-2 and host genetics in Coronavirus Disease 2019 (COVID-19)"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20441 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20441; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9426371/fullTextXML"; rdfs:comment "We leverage a pandemic tracking strategy in which we sequence viral and host genomes and transcriptomes from nasopharyngeal swabs of 1049 individuals (736 SARS-CoV-2 positive and 313 SARS-CoV-2 negative) and integrate them with digital phenotypes from electronic health records from a diverse catchment area in Northern California." . _:47c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9426371/fullTextXML"; rdfs:comment "Residual viral transport media (VTM) from SARS-CoV-2 clinical diagnostic tests were prospectively collected from March 2020 to July 2020 from Stanford Health Care in northern California, USA." . _:47c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34237774"; "Mapping the human genetic architecture of COVID-19."; "PMID:34237774", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-03767-x/MediaObjects/41586_2021_3767_MOESM7_ESM.pdf"; rdfs:comment "Genomic epidemiology of SARS-Cov-2 and host genetics in Coronavirus Disease 2019 (COVID-19) Data Collection Lead" . _:47c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A COVID-19 pandemic-tracking study at Stanford Health Care in northern California that, from March to July 2020, collected the residual nasopharyngeal swab media of clinical SARS-CoV-2 tests from approximately consecutive SARS-CoV-2-positive and -negative patients, linked them to electronic health record data, and sequenced the patients' genomes at low coverage together with viral genomes and transcriptomes, to study host genetic, viral and clinical correlates of COVID-19 severity; it contributed its host genetic data to the COVID-19 Host Genetics Initiative."; "PMID:34237774", "PMID:36042219"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 736; "patients tested for SARS-CoV-2 at Stanford Health Care whose residual nasopharyngeal swabs were collected, March-July 2020 (positive and negative)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9426371/fullTextXML"; rdfs:comment "In total, 1327 NP swab residuals were collected from 1049 individuals (736 positive and 313 negative, Fig. 1A and S2)." . _:47cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 313; "patients tested for SARS-CoV-2 at Stanford Health Care whose residual nasopharyngeal swabs were collected, March-July 2020 (positive and negative)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9426371/fullTextXML"; rdfs:comment "In total, 1327 NP swab residuals were collected from 1049 individuals (736 positive and 313 negative, Fig. 1A and S2)." . _:47cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1049; "patients tested for SARS-CoV-2 at Stanford Health Care whose residual nasopharyngeal swabs were collected, March-July 2020 (positive and negative)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9426371/fullTextXML"; rdfs:comment "In total, 1327 NP swab residuals were collected from 1049 individuals (736 positive and 313 negative, Fig. 1A and S2)." . _:47cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stanford"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20450, _:genid-371333f489424440b12a13b9d98ced822608-genid20452, _:genid-371333f489424440b12a13b9d98ced822608-genid20454; , , ; ; "PMID:34319387"; "A population-based study of Chinese children aged 6 to 72 months living in south-western and western Singapore, recruited door to door from 2006 to 2008 with disproportionate random sampling in 6-month age bands, who had parental questionnaires and eye examinations including visual acuity, cycloplegic autorefraction, ocular biometry and retinal photography, to study strabismus, amblyopia and refractive error in preschool children; a family study in 2008-2010 added parents and siblings."; 3009; "STARS", "STARS study", "Strabismus, Amblyopia and Refractive Error Study", "Strabismus, Amblyopia and Refractive Error in Singaporean Children", "Strabismus, Amblyopia, and Refractive Error Study", "Strabismus, Amblyopia, and Refractive Error Study in Singaporean Chinese Preschoolers", "Strabismus, Amblyopia, and Refractive Error Study of Preschool Children", "Strabismus, Amblyopia, and Refractive Error in Singapore children Study", "Strabismus, Amblyopia, and Refractive Error in Young Singaporean Children Study"; rdfs:label "Strabismus, Amblyopia and Refractive Error Study in Singaporean Chinese Preschoolers"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20450 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20452 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20454 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20450; "amblyopia"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979485/"; rdfs:comment "The Strabismus, Amblyopia and Refractive Error in Singaporean Children (STARS) is a population-based study in southwest Singapore." . _:47cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20452; "strabismus"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979485/"; rdfs:comment "The Strabismus, Amblyopia and Refractive Error in Singaporean Children (STARS) is a population-based study in southwest Singapore." . _:47d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20454; "refractive error"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979485/"; rdfs:comment "The Strabismus, Amblyopia and Refractive Error in Singaporean Children (STARS) is a population-based study in southwest Singapore." . _:47d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8322707/fullTextXML"; rdfs:comment "Strabismus, Amblyopia, and Refractive Error Study (STARS) is a population-based survey of Chinese families with children aged 6 to 72 months residing in the southwestern and western region of Singapore." . _:47d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34319387"; "New Polygenic Risk Score to Predict High Myopia in Singapore Chinese Children."; "PMID:34319387", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34319387+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The PRS was generated from the Consortium for Refractive Error and Myopia genomewide association study (n = 542,934) and the Strabismus, Amblyopia, and Refractive Error in Singapore children Study (n = 500)." . _:47d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of Chinese children aged 6 to 72 months living in south-western and western Singapore, recruited door to door from 2006 to 2008 with disproportionate random sampling in 6-month age bands, who had parental questionnaires and eye examinations including visual acuity, cycloplegic autorefraction, ocular biometry and retinal photography, to study strabismus, amblyopia and refractive error in preschool children; a family study in 2008-2010 added parents and siblings."; "PMID:19426960", "PMID:19933197", "PMID:22064996", "PMID:23860760", "PMID:34319387"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3009; "Chinese children aged 6 to 72 months examined in the STARS population-based survey (2006-2008); the later family study added parents and siblings"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3979485/"; rdfs:comment "In total, of the 4162 children invited to participate, 3009 (72.3%) participated." . _:47d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STARS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20461, _:genid-371333f489424440b12a13b9d98ced822608-genid20463; , , ; "PMID:34103471"; "A five-year national flagship research programme on psychosis in Singapore, based at the Institute of Mental Health, made up of three linked studies: a genome-wide association and copy-number study of schizophrenia and its cognitive phenotypes, a prospective study of people at ultra-high risk of psychosis, and a randomized controlled trial to improve neurocognition in schizophrenia. Its schizophrenia study recruited outpatients and inpatients of Chinese ethnicity aged 21 to 55 with DSM-IV schizophrenia at the Institute of Mental Health from 2008 to 2011."; 975; "STCRP", "Singapore Translational & Clinical Research in Psychosis", "Singapore Translational and Clinical Research Psychosis", "The Singapore Translational and Clinical Research in Psychosis"; rdfs:label "Singapore Translational and Clinical Research in Psychosis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20461 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20463 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20461; "schizophrenia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22032547+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The second is a prospective study of a large group of individuals who are assessed to be at ultra-high risk of psychosis, and the third is a randomized controlled trial to improve neurocognition in patients with schizophrenia." . _:47d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20463; "psychosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22032547+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The second is a prospective study of a large group of individuals who are assessed to be at ultra-high risk of psychosis, and the third is a randomized controlled trial to improve neurocognition in patients with schizophrenia." . _:47d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9954179/fullTextXML"; rdfs:comment "Participants consisted of both outpatients and inpatients recruited as part of the Singapore Translational and Clinical Research Psychosis (STCRP) program at the Institute of Mental Health, Singapore." . _:47d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34103471"; "Genome wide study of tardive dyskinesia in schizophrenia."; "PMID:34103471", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8187404/fullTextXML"; rdfs:comment "Linear mixed models conducted via the GEMMA29 package revealed significant genome-wide association of TD at the level of the CATIE cohorts, but not the STCRP cohort (Supplementary Fig. 6)." . _:47da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A five-year national flagship research programme on psychosis in Singapore, based at the Institute of Mental Health, made up of three linked studies: a genome-wide association and copy-number study of schizophrenia and its cognitive phenotypes, a prospective study of people at ultra-high risk of psychosis, and a randomized controlled trial to improve neurocognition in schizophrenia. Its schizophrenia study recruited outpatients and inpatients of Chinese ethnicity aged 21 to 55 with DSM-IV schizophrenia at the Institute of Mental Health from 2008 to 2011."; "PMID:22032547", "PMID:36831758"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 975; "people with schizophrenia recruited to the programme's schizophrenia study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9954179/fullTextXML"; rdfs:comment "A total of 975 individuals diagnosed with schizophrenia were recruited." . _:47dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STCRP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20470; , ; "PGS000741", "PMID:33623038"; "A population-based cohort of men referred for prostate-specific antigen testing in laboratories in Stockholm County, Sweden, who were invited at the blood-sampling visit between 2010 and 2012, with prostate cancer diagnoses and biopsy results taken from the National Prostate Cancer Register and regional records; it supplied prostate cancer cases and controls to international genetic studies."; "The acronym STHM also denotes Stockholm-1 (COHO:0002710); this term is Stockholm 2."@en, "The name The Stockholm Study also denotes Stockholm-1 (COHO:0002710); this term is Stockholm 2."@en; 26712; "STHLM", "STHLM2", "STHM", "STHM1, STHM2, Stockholm-1, Stockholm-2, STHLM, STHLM2", "STHM2", "Stockholm-2", "The Stockholm Study"; ; rdfs:label "Stockholm 2"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20470 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20470; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4503229/"; rdfs:comment "Men referred to PSA-testing in laboratories in Stockholm County between 2010 and 2012 were invited to the population-based cohort STHLM2 at the blood sampling visit." . _:47de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "Cases were selected among men referred for PSA testing in laboratories in Stockholm County, Sweden, between 2010 and 2012." . _:47df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:47e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "STHM2 (n=4524) Stockholm 2 Stockholm, Sweden Population- based, observational" . _:47e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of men referred for prostate-specific antigen testing in laboratories in Stockholm County, Sweden, who were invited at the blood-sampling visit between 2010 and 2012, with prostate cancer diagnoses and biopsy results taken from the National Prostate Cancer Register and regional records; it supplied prostate cancer cases and controls to international genetic studies."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC4503229/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26712; "STHLM2 men enrolled over 22 months in 2010-2012"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4503229/"; rdfs:comment "A total of 26,712 men were included during the 22-month study period." . _:47e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHLM"; . _:47e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHLM2"; . _:47e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHM"; . _:47e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHM2"; . _:47e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Stockholm-2"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. STOLLERY_CC is the PGS Catalog's id for the pilot clinical sample of PMID:32790217: about 128 children referred to the coeliac clinic of the Stollery Children's Hospital (Edmonton, Alberta, Canada) with suspected coeliac disease, plus paediatric gastroenterology controls, used once to evaluate a coeliac genetic risk score (PSS000381). The paper and the Catalog describe it only as a 'pilot clinical cohort' at a tertiary paediatric clinic; it has no study name, design or recruitment beyond that one paper, so it is a clinic's patient sample, not a cohort. No COHO term matches. Recommend obsoleting placeholder COHO:0002414. If the curator prefers to keep one-paper clinical samples, reading the closed full text would be needed for recruitment dates. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Stollery Children’s Hospital Coeliac Clinic"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20482, _:genid-371333f489424440b12a13b9d98ced822608-genid20484; ; , ; "PMID:42448324"; "A randomised controlled trial in Turku, Finland, that enrolled infants and their parents at well-baby clinics between 1989 and 1992 and gave the intervention group individualised dietary counselling from age 7 months to 20 years, aimed at improving dietary fat quality to prevent cardiovascular disease, while the control group received routine care; participants have been followed into adulthood."; "The acronym STRIP also denotes Special Turku Coronary Risk Factor Intervention Project, Parents (COHO:0002703); this term is Special Turku Coronary Risk Factor Intervention Project."@en; 1062; "STRIP", "STRIP study", "Special Turku coronary Risk factor Intervention Project for babies"; rdfs:label "Special Turku Coronary Risk Factor Intervention Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20484 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20482; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "The intervention is unique in that it began in infancy and continued for 20 years, with personalized dietary counseling provided to children and their parents in the intervention group." . _:47e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20484; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "It aimed at improving fat quality and promoting healthy foods to prevent cardiovascular diseases." . _:47ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "The STRIP study was a prospective randomized controlled trial (RCT) conducted in Turku, Finland, starting in 1990." . _:47eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42448324"; "Effect of dietary counselling on educational disparities in cardiometabolic health from childhood to adulthood."; "PMID:42448324", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42448324+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study comprised 839 participants from the Special Turku Coronary Risk Factor Intervention Project (STRIP), in which the intervention group (n=417) received individualized dietary counselling during 20 years, while the control group (n=422) received routine care." . _:47ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised controlled trial in Turku, Finland, that enrolled infants and their parents at well-baby clinics between 1989 and 1992 and gave the intervention group individualised dietary counselling from age 7 months to 20 years, aimed at improving dietary fat quality to prevent cardiovascular disease, while the control group received routine care; participants have been followed into adulthood."; "PMID:16250721", "PMID:42011282"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1062; "Infants enrolled with their parents in the STRIP randomized trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "A total of 1062 7‐month‐old infants and their parents were enrolled in the trial." . _:47ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STRIP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20491; , ; ; "PGS000344", "PMID:38098086"; "An open-label, multicentre, randomised phase III trial in Germany that enrolled patients with HER2-positive, intermediate-to-high-risk early breast cancer between 2008 and 2011 and compared adjuvant chemotherapy of three cycles of fluorouracil, epirubicin and cyclophosphamide followed by three cycles of docetaxel with the same followed by three cycles of gemcitabine and docetaxel, all patients then receiving trastuzumab for a year."; 793; "SUCCESS B", "SUCCESS B study", "SUCCESS B trial", "SUCCESSB", "Simultaneous Study of Gemcitabine-Docetaxel Combination adjuvant treatment", "SuccessB"; ; rdfs:label "Simultaneous Study of Gemcitabine-Docetaxel Combination adjuvant treatment, as well as Biological Targeted Treatment"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20491 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20491; "HER2-positive breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "SUCCESS B was another open-label, multicenter, 1:1 randomized phase III study that enrolled 793 intermediate-to-high-risk breast cancer patients between June 2008 and September 2011. Study participants were positive for human epidermal growth factor receptors (HER2neu) and received the same adjuvant CHT as in the SUCCESS A study (i.e., FEC-Doc vs FEC-DocG)." . _:47f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "SuccessB Simultaneous Study of Gemcitabine-Docetaxel Combination adjuvant treatment Multicenter, prospective, randomized, open-label phase III study Germany" . _:47f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:47f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38098086"; "Effect of histological breast cancer subtypes invasive lobular versus non-special type on survival in early intermediate-to-high-risk breast carcinoma: results from the SUCCESS trials."; "PMID:38098086", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "SUCCESS B was another open-label, multicenter, 1:1 randomized phase III study that enrolled 793 intermediate-to-high-risk breast cancer patients between June 2008 and September 2011." . _:47f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open-label, multicentre, randomised phase III trial in Germany that enrolled patients with HER2-positive, intermediate-to-high-risk early breast cancer between 2008 and 2011 and compared adjuvant chemotherapy of three cycles of fluorouracil, epirubicin and cyclophosphamide followed by three cycles of docetaxel with the same followed by three cycles of gemcitabine and docetaxel, all patients then receiving trastuzumab for a year."; "PMID:38098086", "PMID:41711956"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 793; "SUCCESS B enrolled trial patients (2008–2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "SUCCESS B was another open-label, multicenter, 1:1 randomized phase III study that enrolled 793 intermediate-to-high-risk breast cancer patients between June 2008 and September 2011." . _:47f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESS B"; . _:47f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESSB"; . _:47f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SuccessB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20501, _:genid-371333f489424440b12a13b9d98ced822608-genid20503, _:genid-371333f489424440b12a13b9d98ced822608-genid20505; , ; ; "PGS000344", "PMID:28190761"; "An open-label, multicentre, randomised phase III trial at study sites in Germany that enrolled patients with HER2-negative early breast cancer between 2009 and 2011 and compared anthracycline-containing with anthracycline-free (docetaxel and cyclophosphamide) adjuvant chemotherapy, with a second randomisation of patients with a body mass index of 24 to 40 kg/m2 to an individualised two-year telephone lifestyle intervention aiming at moderate weight loss or to general lifestyle recommendations."; 3643; "SUCCESS C", "SUCCESS C study", "SUCCESS C trial", "SUCCESSC", "Simultaneous Study of Docetaxel Based Anthracycline Free Adjuvant Treatment Evaluation", "SuccessC"; ; rdfs:label "Simultaneous Study of Docetaxel Based Anthracycline Free Adjuvant Treatment Evaluation, as well as Life Style Intervention Strategies"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20501 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20503 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20505 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:47f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20501; "HER2neu negative early breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "The SUCCESS C trial was a multicenter, prospective randomized phase III study comprising 3643 patients with primary HER2neu negative early breast cancer that were enrolled between February 2009 and August 2011 at 231 German study sites." . _:47f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20503; "dietary changes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "The individualized lifestyle intervention program comprised a two-year standardized and structured telephone intervention aimed at moderate weight loss through dietary changes and physical activity, supported by educational materials and patient diary." . _:47fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20505; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "The individualized lifestyle intervention program comprised a two-year standardized and structured telephone intervention aimed at moderate weight loss through dietary changes and physical activity, supported by educational materials and patient diary." . _:47fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "The SUCCESS C trial was a multicenter, prospective randomized phase III study comprising 3643 patients with primary HER2neu negative early breast cancer that were enrolled between February 2009 and August 2011 at 231 German study sites." . _:47fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:47fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28190761"; "Prevalence of Circulating Tumor Cells After Adjuvant Chemotherapy With or Without Anthracyclines in Patients With HER2-negative, Hormone Receptor-positive Early Breast Cancer."; "PMID:28190761", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28190761+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Based on data suggesting a limited benefit of anthracyclines in human epidermal growth factor receptor 2 (HER2)-negative patients, the Simultaneous Study of Docetaxel Based Anthracycline Free Adjuvant Treatment Evaluation, as well as Life Style Intervention Strategies (SUCCESS) C study randomized patients to either anthracycline-containing or anthracycline-free chemotherapy." . _:47fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open-label, multicentre, randomised phase III trial at study sites in Germany that enrolled patients with HER2-negative early breast cancer between 2009 and 2011 and compared anthracycline-containing with anthracycline-free (docetaxel and cyclophosphamide) adjuvant chemotherapy, with a second randomisation of patients with a body mass index of 24 to 40 kg/m2 to an individualised two-year telephone lifestyle intervention aiming at moderate weight loss or to general lifestyle recommendations."; "PMID:38098086", "PMID:41711956"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:47ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3643; "SUCCESS C enrolled trial patients (2009–2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10722735/fullTextXML"; rdfs:comment "The SUCCESS C trial was a multicenter, prospective randomized phase III study comprising 3643 patients with primary HER2neu negative early breast cancer that were enrolled between February 2009 and August 2011 at 231 German study sites." . _:48002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESS C"; . _:48012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUCCESSC"; . _:48022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SuccessC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20515; , , ; ; "PMID:10577996"; "A population-based prospective cohort of residents of Suita, an urban city in Osaka, Japan, made up of two groups randomly selected from the general population by sex and 10-year age group (recruited in 1989 and 1998) and a volunteer group (recruited 1992-2006), who had a baseline health examination with questionnaire, clinical examination, blood and urine analysis and electrocardiogram at the National Cerebral and Cardiovascular Center and return there every two years for follow-up, to investigate risk factors for cardiovascular disease."; 7814; "Suita", "suita study"; rdfs:label "Suita Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20515 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20515; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12403414/fullTextXML"; rdfs:comment "As described elsewhere [20, 21], the Suita Study is a population-based study with a prospective cohort design, aimed at investigating CVD risk factors." . _:48042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12358252/fullTextXML"; rdfs:comment "We, therefore, used data from the Suita Study, a population-based prospective cohort study investigating people residing in an urban city in Osaka, Japan, to explore this association." . _:48052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:10577996"; "Human prostacyclin synthase gene and hypertension : the Suita Study."; "PMID:10577996", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10577996+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We then investigated the possible association of this repeat polymorphism with blood pressure in a large population-based sample (the Suita Study), which consisted of 4971 Japanese participants." . _:48062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of residents of Suita, an urban city in Osaka, Japan, made up of two groups randomly selected from the general population by sex and 10-year age group (recruited in 1989 and 1998) and a volunteer group (recruited 1992-2006), who had a baseline health examination with questionnaire, clinical examination, blood and urine analysis and electrocardiogram at the National Cerebral and Cardiovascular Center and return there every two years for follow-up, to investigate risk factors for cardiovascular disease."; "PMID:40383629", "PMID:40898037", "PMID:9056605"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7814; "participants of the Suita Study's two randomly selected cohorts, recruited 1989-1998; a volunteer group of 546 (1992-2006) is stated separately and no total is given"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12358252/fullTextXML"; rdfs:comment "The Suita Study population (two randomly selected cohorts including 7,814 participants recruited from 1989 to 1998 and a volunteer group including 546 participants recruited from 1992 to 2006)" . _:48082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Suita"; . a owl:NamedIndividual, ; , ; ; "PGS000781", "PMID:28346443"; "A randomised, double-blind, placebo-controlled primary-prevention trial in the general adult population of France, which in 1994 enrolled women aged 35 to 60 and men aged 45 to 60 and followed them for eight years to test whether daily supplementation with antioxidant vitamins (vitamin C, vitamin E and beta-carotene) and minerals (selenium and zinc) at nutritional doses reduces cancers and cardiovascular diseases."; 13017; "SU.VI.MAX", "SU.VI.MAX study", "SUVIMAX", "SUVIMAX study", "SUpplémentation en VItamines et Minéraux AntioXydants", "Supplementation en Vitamines et Mineraux Antioxydants", "Supplementation en Vitamines et Mineraux Antioxydants Study"; ; rdfs:label "SUpplementation en VItamines et Minéraux AntioXydants"@en . _:48092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9503043+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study involves 12,735 eligible subjects (women aged 35 to 60 years; men aged 45 to 60 years) included in 1994 in France." . _:480a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000781"; "A Weighted Genetic Risk Score of Adult Glioma Susceptibility Loci Associated with Pediatric Brain Tumor Risk."; "PMID:31792337" . _:480b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28346443"; "Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors."; "PMID:28346443", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5558246/"; rdfs:comment "French controls were taken from the SU.VI.MAX study." . _:480c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled primary-prevention trial in the general adult population of France, which in 1994 enrolled women aged 35 to 60 and men aged 45 to 60 and followed them for eight years to test whether daily supplementation with antioxidant vitamins (vitamin C, vitamin E and beta-carotene) and minerals (selenium and zinc) at nutritional doses reduces cancers and cardiovascular diseases."; "PMID:9503043", "PMID:9683310"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:480d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13017; "French adults (7,876 women aged 35-60 and 5,141 men aged 45-60) included in the trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15557412+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 13 017 French adults (7876 women aged 35-60 years and 5141 men aged 45-60 years) were included." . _:480e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SU.VI.MAX"; . _:480f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SUVIMAX"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20529; , , ; "PMID:24001895"; "A cross-sectional survey of hypertension carried out in 2010 in four urban communities and four rural villages of the Jinchang district of Suzhou, Jiangsu province, China, whose 3,061 participants were Han Chinese adults aged 30 years or older without end-organ damage, chronic renal disease, tumours or urinary tract infections, with questionnaire, anthropometric and blood pressure data. All its participants were genotyped as a de novo replication sample of the Asian Genetic Epidemiology Network's genome-wide association meta-analysis of mean arterial and pulse pressure."; 3061; "Suzhou", "Suzhou Study", "Suzhou study"; rdfs:label "Suzhou study on hypertension"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20529 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20529; "hypertension"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/3972802/bin/NIHMS514903-supplement-1.docx"; rdfs:comment "Conducted in 2010, the Suzhou study on hypertension (Suzhou study) was a cross-sectional survey of 4 urban communities and 4 rural villages in the Jinchang district of Suzhou in China’s Jiangsu province." . _:48112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/instance/3972802/bin/NIHMS514903-supplement-1.docx"; rdfs:comment "Conducted in 2010, the Suzhou study on hypertension (Suzhou study) was a cross-sectional survey of 4 urban communities and 4 rural villages in the Jinchang district of Suzhou in China’s Jiangsu province." . _:48122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24001895"; "Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci."; "PMID:24001895", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3972802/"; rdfs:comment "Suzhou Study 3,061 Chinese Standard mercury sphygmomanometer, 2 54.2 (10.5) 61.7 24.8 (3.6) 134.2 (19.8) 86.4 (10.2) 70.5 (9.9) 47.8 (14.3) 47.2 27.5" . _:48132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional survey of hypertension carried out in 2010 in four urban communities and four rural villages of the Jinchang district of Suzhou, Jiangsu province, China, whose 3,061 participants were Han Chinese adults aged 30 years or older without end-organ damage, chronic renal disease, tumours or urinary tract infections, with questionnaire, anthropometric and blood pressure data. All its participants were genotyped as a de novo replication sample of the Asian Genetic Epidemiology Network's genome-wide association meta-analysis of mean arterial and pulse pressure."; "PMID:24001895", "https://pmc.ncbi.nlm.nih.gov/articles/instance/3972802/bin/NIHMS514903-supplement-1.docx"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:48142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3061; "Han Chinese adults aged 30 or over taking part in the 2010 survey, all genotyped"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/3972802/bin/NIHMS514903-supplement-1.docx"; rdfs:comment "A total of 3,061 individuals who were ≥30 years of age, of Han ethnicity, had no evidence of end organ damage, chronic renal disease, tumors, or urinary tract infections were selected to participate in the study." . _:48152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Suzhou"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20536; , , ; ; "PMID:23263487"; "A colorectal cancer case-control study nested in two population-based cohorts in urban Shanghai, China, the Shanghai Women's Health Study and the Shanghai Men's Health Study, whose cases were colorectal cancer patients identified among the cohorts' participants and whose controls were cancer-free participants of the same cohorts frequency-matched to the cases by age and sex. Its samples, with additional community controls from the Shanghai Breast Cancer Study, were genotyped as the Shanghai-1 and Shanghai-2 sets of the discovery stage of the Asia Colorectal Cancer Consortium's genome-wide association study."; 777; 758; "SVCRCGP", "Shanghai-Vanderbilt Colorectal Cancer Genetics Project"; rdfs:label "Shanghai-Vanderbilt Colorectal Cancer Genetic Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20536 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20536; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "Colorectal cancer (CRC) cases for the project were derived from the Shanghai Women’s Health Study (SWHS) and the Shanghai Men’s Health Study (SMHS), both population-based cohort studies which are being conducted in urban Shanghai, China." . _:48172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "Colorectal cancer (CRC) cases for the project were derived from the Shanghai Women’s Health Study (SWHS) and the Shanghai Men’s Health Study (SMHS), both population-based cohort studies which are being conducted in urban Shanghai, China." . _:48182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "This study included 2,368 cases and 8,219 controls from three case- control collections, Shanghai-1, Shanghai-2 and Shanghai-3." . _:48192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23263487"; "Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer."; "PMID:23263487", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3679924/fullTextXML"; rdfs:comment "W.Z. conceived and directed the consortium as well as the Shanghai-Vanderbilt Colorectal Cancer Genetics Project." . _:481a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A colorectal cancer case-control study nested in two population-based cohorts in urban Shanghai, China, the Shanghai Women's Health Study and the Shanghai Men's Health Study, whose cases were colorectal cancer patients identified among the cohorts' participants and whose controls were cancer-free participants of the same cohorts frequency-matched to the cases by age and sex. Its samples, with additional community controls from the Shanghai Breast Cancer Study, were genotyped as the Shanghai-1 and Shanghai-2 sets of the discovery stage of the Asia Colorectal Cancer Consortium's genome-wide association study."; "PMID:23263487", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:481b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 777; "SVCRCGP cases and matched controls from SWHS/SMHS in the 2013 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "A total of 777 CRC cases with DNA available were identified in participants of the SWHS and SMHS and included in this study." . _:481c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 758; "SVCRCGP cases and matched controls from SWHS/SMHS in the 2013 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "A total of 758 cancer-free controls were derived from the SWHS/SMHS and frequency- matched to CRC cases by age and sex." . _:481d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SVCRCGP"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id SwBCS and its name, Swedish Bladder Cancer Study, are a transcription error for TWBCS, the Taiwanese Breast Cancer Study of the breast cancer GWAS the id comes from (PMID:22267197), which has no Swedish or bladder cancer study. The name is not carried over. Replaced by COHO:0002474 (Taiwanese Breast Cancer Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Swedish Bladder Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20545; , ; ; "PGS000082", "PMID:41266372"; "An ovarian cancer study in the western region of Sweden, a member study of the Ovarian Cancer Association Consortium, that contributed ovarian cancer cases and controls to the consortium's OncoArray genotyping project; it is funded by the Swedish Cancer Foundation, WeCanCureCancer and the årKampMotCancer foundation."; 105; 1667; "SWE"; ; rdfs:label "Sweden Western Region Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20545 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:481e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20545; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "SWE | 1667 | 13 | 7 | 6 | | 105 | 0 | 67 | 6 | 13 | 2 | 17" . _:481f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:48202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41266372"; "Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer."; "PMID:41266372", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12635163/fullTextXML"; rdfs:comment "SWE: Swedish Cancer foundation, WeCanCureCancer and årKampMotCancer foundation" . _:48212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ovarian cancer study in the western region of Sweden, a member study of the Ovarian Cancer Association Consortium, that contributed ovarian cancer cases and controls to the consortium's OncoArray genotyping project; it is funded by the Swedish Cancer Foundation, WeCanCureCancer and the årKampMotCancer foundation."; "PMID:28346442", "PMID:41266372", "http://web.archive.org/web/20190717092345/http://ocac.ccge.medschl.cam.ac.uk/study-groups/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 105; "SWE invasive ovarian cancer cases and controls in the 2017 OCAC OncoArray stratum"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "SWE | 1667 | 13 | 7 | 6 | | 105 | 0 | 67 | 6 | 13 | 2 | 17" . _:48232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1667; "SWE invasive ovarian cancer cases and controls in the 2017 OCAC OncoArray stratum"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM69_ESM.xlsx"; rdfs:comment "SWE | 1667 | 13 | 7 | 6 | | 105 | 0 | 67 | 6 | 13 | 2 | 17" . _:48242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20553, _:genid-371333f489424440b12a13b9d98ced822608-genid20555; , ; ; "PGS000004", "PMID:29058716"; "A cancer clinic-based study of carriers of pathogenic BRCA1 and BRCA2 variants in Sweden, run by collaborators at the university hospitals of Lund, Gothenburg (Sahlgrenska), Stockholm (Karolinska), Umeå, Uppsala and Linköping and supported by the Swedish Cancer Society, that contributes its carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; 188; 237; "SWE-BRCA", "SWEBCS", "Swedish BRCA1 and BRCA2 study"; ; rdfs:label "Swedish Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20553 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20555 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20553; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:48262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20555; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:48272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "SWE-BRCA | Swedish Breast Cancer Study | SWEDEN | 237 | 188 | | 52 | 38" . _:48282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:48292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "SWE-BRCA | Swedish Breast Cancer Study | SWEDEN | 237 | 188 | | 52 | 38" . _:482a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cancer clinic-based study of carriers of pathogenic BRCA1 and BRCA2 variants in Sweden, run by collaborators at the university hospitals of Lund, Gothenburg (Sahlgrenska), Stockholm (Karolinska), Umeå, Uppsala and Linköping and supported by the Swedish Cancer Society, that contributes its carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)."; "PMID:22768030", "PMID:28448241", "PMID:37173335"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:482b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 188; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "SWE-BRCA | Swedish Breast Cancer Study | SWEDEN | 237 | 188 | | 52 | 38" . _:482c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 237; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "SWE-BRCA | Swedish Breast Cancer Study | SWEDEN | 237 | 188 | | 52 | 38" . _:482d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWE-BRCA"; . _:482e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWEBCS"; . a owl:NamedIndividual, ; , ; "PMID:25648963"; "A genetic study of memory performance in healthy young Swiss adults aged 18 to 45 years, university students or age-matched employees and trainees recruited at the University of Zürich and the University of Basel, whose verbal episodic memory is measured by an unexpected delayed free recall of visually presented words and who are genotyped at the Biozentrum of the University of Basel."; 1561; "Swiss MGS", "Swiss_MGS"; rdfs:label "Swiss Memory Genetics Study"@en . _:482f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322314008920-mmc1.pdf"; rdfs:comment "Swiss Memory Genetics Study (Swiss MGS): A total of 1,561 healthy, young Swiss university students or age-matched employees/trainees (658 from the University of Zürich and 903 from the University of Basel) were recruited for a genetic study of memory performance." . _:48302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25648963"; "Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium."; "PMID:25648963", "https://ars.els-cdn.com/content/image/1-s2.0-S0006322314008920-mmc1.pdf"; rdfs:comment "Swiss Memory Genetics Study (Swiss MGS): A total of 1,561 healthy, young Swiss university students or age-matched employees/trainees (658 from the University of Zürich and 903 from the University of Basel) were recruited for a genetic study of memory performance." . _:48312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of memory performance in healthy young Swiss adults aged 18 to 45 years, university students or age-matched employees and trainees recruited at the University of Zürich and the University of Basel, whose verbal episodic memory is measured by an unexpected delayed free recall of visually presented words and who are genotyped at the Biozentrum of the University of Basel."; "PMID:22105620", "PMID:25648963", "https://ars.els-cdn.com/content/image/1-s2.0-S0006322314008920-mmc1.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1561; "healthy young Swiss adults recruited at the Universities of Zürich (658) and Basel (903), as described for the 2015 CHARGE memory GWAS"; "https://ars.els-cdn.com/content/image/1-s2.0-S0006322314008920-mmc1.pdf"; rdfs:comment "A total of 1,561 healthy, young Swiss university students or age-matched employees/trainees (658 from the University of Zürich and 903 from the University of Basel) were recruited for a genetic study of memory performance." . _:48332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Swiss MGS"; . _:48342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Swiss_MGS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id SWOG-SELECT denotes the Selenium and Vitamin E Cancer Prevention Trial, genotyped for prostate and colorectal cancer GWAS (PMID:29892016, PMID:30510241); the Catalog's name for it is the trial's name, misspelt. Replaced by COHO:0000693 (Selenium and Vitamin E Cancer Prevention Trial), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Selenium and Vitmain E Cancer Prevention Trial"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20571; , ; "PMID:37794016"; "A prospective mother-offspring cohort of non-pregnant women aged 20 to 34 years from the general population of Southampton, UK, recruited through their general practitioners between 1998 and 2002 and characterised before pregnancy; the women who later became pregnant were followed through pregnancy, and their children through infancy and childhood, to study how maternal characteristics and the children's prenatal and postnatal growth affect their development and their risk factors for chronic diseases."; 12579; "SWS", "Southampton Womens Survey"; rdfs:label "Southampton Women's Survey"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20571 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20571; "mother's diet before and during pregnancy"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4579566/"; rdfs:comment "The objectives of the Southampton Women’s Survey are: a)to characterise the influence of the mother’s own fetal growth and of her diet, body composition and endocrine profile before and during pregnancy on: 1) the early trajectory of fetal growth; 2) the maintenance of this growth trajectory in late gestation;" . _:48362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9542867/fullTextXML"; rdfs:comment "In brief, 12,583 non-pregnant women aged 20-34 years were recruited to the SWS between 1998 and 2002 from the general population of Southampton, UK, with no other exclusion criteria." . _:48372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37794016"; "European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation."; "PMID:37794016", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-023-41180-2/MediaObjects/41467_2023_41180_MOESM1_ESM.pdf"; rdfs:comment "Between 1998 and 2002 the Southampton Women’s Survey team interviewed 12,583 Southampton women aged 20 to 34 years." . _:48382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective mother-offspring cohort of non-pregnant women aged 20 to 34 years from the general population of Southampton, UK, recruited through their general practitioners between 1998 and 2002 and characterised before pregnancy; the women who later became pregnant were followed through pregnancy, and their children through infancy and childhood, to study how maternal characteristics and the children's prenatal and postnatal growth affect their development and their risk factors for chronic diseases."; "PMID:16195252", "PMID:35689423"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12579; "non-pregnant women aged 20-34 interviewed at recruitment, April 1998 to October 2002 (1998-2002)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4579566/"; rdfs:comment "Of those women contacted about the study, 12 579 (75%) agreed and were interviewed by a research nurse." . _:483a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SWS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20578; , ; ; "PGS001778", "PMID:32424353"; "A breast cancer case-control study in Szczecin, West Pomerania, Poland, run from the International Hereditary Cancer Center of the Pomeranian Medical University and a member study of the Breast Cancer Association Consortium, whose cases are prospectively ascertained patients with invasive breast cancer diagnosed at the Regional Oncology Hospital or the University Hospital in Szczecin in 2002–2007, and whose controls were drawn from a population-based study of the inhabitants of West Pomerania in 2003–2004, matched to cases for year of birth, sex and region."; 388; 182; "SZBCS"; ; rdfs:label "IHCC-Szczecin Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20578 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:483b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20578; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "SZBCS IHCC-Szczecin Breast Cancer Study155,156 Hospital based case-control study Poland 182 388 157 387 0 0" . _:483c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "Prospectively ascertained cases of invasive breast cancer patients diagnosed at the Regional Oncology Hospital (2002-2003 and 2006-2007) or the University Hospital (2002-2007), both in Szczecin, West Pomerania, Poland." . _:483d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001778"; "Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women."; "PMID:34572793" . _:483e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32424353"; "Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses."; "PMID:32424353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-020-0609-2/MediaObjects/41588_2020_609_MOESM1_ESM.pdf"; rdfs:comment "The SZBCS and IHCC were supported by Grant PBZ_KBN_122/P05/2004 and the program of the Minister of Science and Higher Education under the name \"Regional Initiative of Excellence\" in 2019- 2022 project number 002/RID/2018/19 amount of financing 12 000 000 PLN." . _:483f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A breast cancer case-control study in Szczecin, West Pomerania, Poland, run from the International Hereditary Cancer Center of the Pomeranian Medical University and a member study of the Breast Cancer Association Consortium, whose cases are prospectively ascertained patients with invasive breast cancer diagnosed at the Regional Oncology Hospital or the University Hospital in Szczecin in 2002–2007, and whose controls were drawn from a population-based study of the inhabitants of West Pomerania in 2003–2004, matched to cases for year of birth, sex and region."; "PMID:22267197", "PMID:23535729", "PMID:32424353"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 388; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "SZBCS IHCC-Szczecin Breast Cancer Study155,156 Hospital based case-control study Poland 182 388 157 387 0 0" . _:48412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 182; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "SZBCS IHCC-Szczecin Breast Cancer Study155,156 Hospital based case-control study Poland 182 388 157 387 0 0" . _:48422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SZBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20587, _:genid-371333f489424440b12a13b9d98ced822608-genid20589, _:genid-371333f489424440b12a13b9d98ced822608-genid20591, _:genid-371333f489424440b12a13b9d98ced822608-genid20593; , ; "PGS004608", "PMID:37178517"; "A naturalistic, longitudinal observational study run by the Laureate Institute for Brain Research in Tulsa, Oklahoma, United States, that recruited healthy controls and treatment-seeking individuals with mood, anxiety, substance use and eating disorders from the Tulsa metropolitan area from 2015 to 2018 and assessed them at levels from self-report, behaviour and physiology to neuroimaging, cells, molecules and genes, following the NIMH Research Domain Criteria, to predict symptom severity, treatment outcome and prognosis."; 1050; "T-1000", "T1000", "Tulsa 1000", "Tulsa-1000 study"; ; rdfs:label "Tulsa 1000 study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20589 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20591 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20593 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20587; "substance use disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5786129/fullTextXML"; rdfs:comment "The T-1000 is a naturalistic study that will recruit, assess and longitudinally follow 1000 participants, including healthy controls and treatment-seeking individuals with mood, anxiety, substance use and eating disorders." . _:48442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20589; "mood disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5786129/fullTextXML"; rdfs:comment "The T-1000 is a naturalistic study that will recruit, assess and longitudinally follow 1000 participants, including healthy controls and treatment-seeking individuals with mood, anxiety, substance use and eating disorders." . _:48452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20591; "eating disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5786129/fullTextXML"; rdfs:comment "The T-1000 is a naturalistic study that will recruit, assess and longitudinally follow 1000 participants, including healthy controls and treatment-seeking individuals with mood, anxiety, substance use and eating disorders." . _:48462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20593; "anxiety disorders"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5786129/fullTextXML"; rdfs:comment "The T-1000 is a naturalistic study that will recruit, assess and longitudinally follow 1000 participants, including healthy controls and treatment-seeking individuals with mood, anxiety, substance use and eating disorders." . _:48472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5786129/fullTextXML"; rdfs:comment "The study recruitment aims to generate a representative sample of a local Midwestern community in the USA" . _:48482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004608"; "Transdiagnostic behavioral and genetic contributors to repetitive negative thinking: A machine learning approach."; "PMID:37178517" . _:48492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37178517"; "Transdiagnostic behavioral and genetic contributors to repetitive negative thinking: A machine learning approach."; "PMID:37178517", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37178517+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We employed the Tulsa-1000 study, a large database of deeply phenotyped individuals recruited between 2015 and 2018." . _:484a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A naturalistic, longitudinal observational study run by the Laureate Institute for Brain Research in Tulsa, Oklahoma, United States, that recruited healthy controls and treatment-seeking individuals with mood, anxiety, substance use and eating disorders from the Tulsa metropolitan area from 2015 to 2018 and assessed them at levels from self-report, behaviour and physiology to neuroimaging, cells, molecules and genes, following the NIMH Research Domain Criteria, to predict symptom severity, treatment outcome and prognosis."; "PMID:29371263"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:484b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1050; "individuals recruited 2015-2018 (exploratory sample of the first 500 and confirmatory sample of the latter 550)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10281720/fullTextXML"; rdfs:comment "The T1000 study included a community-based sample of 1050 individuals recruited through radio, electronic media, treatment centre referrals and word of mouth." . _:484c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-1000"; . _:484d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T1000"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20602; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "GCST90492734", "PGS012530"; "An international initiative that assembled genome-wide association studies of type 2 diabetes from studies in six ancestry groups (African American, East Asian, European, Hispanic, South African and South Asian), among them the DIAMANTE Consortium and the Million Veteran Program, and meta-analysed them to characterise the genetic contribution to type 2 diabetes and its aetiological heterogeneity across populations."; 428452; 2107149; 2535601; "T2D-GGI", "T2DGGI"; ; rdfs:label "Type 2 Diabetes Global Genomics Initiative"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20602 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:484e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20602; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/fullTextXML"; rdfs:comment "Through the newly established Type 2 Diabetes Global Genomics Initiative, we present findings from a very large meta-analysis of T2D GWAS data, comprising more than 2.5 million individuals of diverse ancestry—an increase of nearly threefold in the effective sample size compared with previous efforts8,9." . _:484f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "ARIC | Atherosclerosis Risk in Communities Study | 2646917" . _:48502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CAGE-GWAS | Cardiometabolic Genome Epidemiology | 19262484" . _:48512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "KORA | Collaborative Health Research in the Region of Augsburg | 16032513" . _:48522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DDS/DCC | Durban Diabetes Study and Durban Diabetes Case Control | N/A" . _:48532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "ESTBB | Estonian Biobank | 24518929" . _:48542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GOMAP-TEENAGE | Genetic Overlap between Metabolic and Psychiatric traits, and TEENs of Attica: Genes and Environment | 29125842, 23399026" . _:48552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GODARTS | Genetics of Diabetes and Audit Research in Tayside Scotland | 9329309" . _:48562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "MESA | Multi-Ethnic Study of Atherosclerosis | 12397006" . _:48572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "PIVUS | Prospective Investigation of the Vasculature in Uppsala Seniors | 16141402" . _:48582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "RS | Rotterdam Study | 4690838, 4690839, 4690840" . _:48592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "TWT2D | Taiwan Type 2 Diabetes | 20174558" . _:485a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GOMAP-TEENAGE | Genetic Overlap between Metabolic and Psychiatric traits, and TEENs of Attica: Genes and Environment | 29125842, 23399026" . _:485b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "PROMIS | Pakistan Risk of Myocardial Infarction Study | 19404752" . _:485c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "UKBB | UK Biobank | 25826379" . _:485d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "WTCCC | Wellcome Trust Case Control Consortium | 17463249" . _:485e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GCKD | German Chronic Kidney Disease | 21862458" . _:485f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "ULSAM | Uppsala Longitudinal Study of Adult Men | 16030278" . _:48602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DC/SP2 | Diabetic Cohort and Singapore Prospective Study Program | 21490949" . _:48612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "MVP | VA Million Veteran Program | N/A" . _:48622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "BBJ | Biobank Japan | 34594039" . _:48632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "JHS | Jackson Heart Study | 16320381" . _:48642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "MGB | Mass General Brigham Biobank | 26784234" . _:48652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CHS | Cardiovascular Health Study | 1669507" . _:48662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "FHS | Framingham Heart Study | 14819398" . _:48672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HCHS/SOL | Hispanic Community Health Study/Study of Latinos | 28254843" . _:48682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "METSIM | Metabolic Syndrome in Men | 28119442" . _:48692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "FINNGEN | FinnGen Study | N/A" . _:486a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "WHI | Women’s Health Initiative | 9492970" . _:486b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "KBA | Korean Biobank Array from the Korean Genome and Epidemiology Study (KoGES) Consortium | 28938752, 30718733" . _:486c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "NEO | Netherlands Epidemiology of Obesity | 23576214" . _:486d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "BIOVU | BioVU Biobank | 18500243" . _:486e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CKB | China Kadoorie Biobank | 16131516" . _:486f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "BIOME | BioMe Biobank | 21573225" . _:48702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CARDIA | Coronary Artery Risk Development in Young Adults | 3204420" . _:48712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CFS | Cleveland Family Study | 7881656" . _:48722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DECODE | deCODE Genetics | 24464100" . _:48732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GERA | Resource for Genetic Epidemiology on Adult Health and Aging | 27189021" . _:48742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GENOA | Genetic Epidemiology Network of Arteriosclerosis | 15121494" . _:48752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HANDLS | Healthy Aging in Neighborhoods of Diversity across the Life Span Study | 20828101" . _:48762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HABC | Health, Aging, and Body Composition Study | 20338738" . _:48772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "MGI | Michigan Genomics Initiative | N/A" . _:48782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GENESTAR | Genetic Study of Atherosclerosis Risk | 21270820" . _:48792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "NHS | Nurses’ Health Study | 20418489" . _:487a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "PMBB | Penn Medicine Biobank | N/A" . _:487b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HUFS | Howard University Family Study | 19609347" . _:487c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DC/SP2 | Diabetic Cohort and Singapore Prospective Study Program | 21490949" . _:487d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "EMERGE | Electronic Medical Records and Genomics Network | 22101970, 21269473" . _:487e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HPFS | Health Professionals’ Follow-Up Study | 20418489" . _:487f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "KARE | Korean Association Resource | 22158537" . _:48802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "NAGAHAMA | Nagahama Study | 25823570" . _:48812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "PROSPER | PROspective Study of Pravastatin in the Elderly at Risk | 12457784" . _:48822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SBCS/SWHS | Shanghai Breast Cancer Study and Shanghai Women’s Health Study | N/A" . _:48832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CLHNS | Cebu Longitudinal Health and Nutrition Survey | 20507864" . _:48842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "LOLIPOP | London Life Sciences Prospective Population | 18454146" . _:48852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "FAMHS | Family Heart Study | 8651220" . _:48862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "EPIC-INTERACT | European Prospective Investigation into Cancer and Nutrition | 21717116" . _:48872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SCH | Starr County Health | 27266869" . _:48882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CHNS | China Health and Nutrition Survey | 19887509" . _:48892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SCHS | Singapore Chinese Health Study | 24520337" . _:488a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "FUSION | Finland-United States Investigation of NIDDM Genetics | 17463248" . _:488b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "MACAD | Mexican American Study of Coronary Artery Disease | 12865761, 25524916" . _:488c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "LALES | Los Angeles Latino Eye Study | 15234129" . _:488d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SIGMA | Slim Initiative in Genomic Medicine in the Americas | 24390345" . _:488e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "RHS | Ragama Health Study | 19476560" . _:488f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SCES | Singapore Chinese Eye Study | N/A" . _:48902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SINDI | Singapore Indian Eye Study | 21490949" . _:48912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "TAICHI-G | Taiwan Metabochip Consortium - Zhonghua | N/A" . _:48922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "NUGENE | Northwestern University Genetics | 21269473" . _:48932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SBCS/SWHS | Shanghai Breast Cancer Study and Shanghai Women’s Health Study | N/A" . _:48942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SIMES | Singapore Malay Eye Study | 21490949" . _:48952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "BES | Beijing Eye Study | 23697958" . _:48962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "AASC | Anti-aging Study Cohort | 23598421" . _:48972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DGI | Diabetes Genetics Initiative | 17463246" . _:48982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/fullTextXML"; rdfs:comment "we considered loci reported by the DIAMANTE Consortium, which contributed 39.5% of the effective sample size of the current study." . _:48992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HTNIR | Mexican American Hypertension and Insulin Resistance | 11136689, 11551876, 21613355" . _:489a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "WFSM | Wake Forest School of Medicine | 22238593, 15642484" . _:489b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "NIDDM | NIDDM-Atherosclerosis Study: Hispanic Cohorts | 25524916" . _:489c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CAGE-KING | Cardiometabolic Genome Epidemiology Kita-Nagoya Genomic Epidemiology | 19727657" . _:489d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "REGARDS | Sea Islands Genetic Network: Reasons for Geographic And Racial Differences in Stroke | 15990444" . _:489e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HKDR | Hong Kong Diabetes Registry | N/A" . _:489f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DGDG | Diabetes Gene Discovery Group | N/A" . _:48a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GOLDR | Genetics of Latinos Diabetic Retinopathy | 22330960" . _:48a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "INTERHEART | N/A | N/A" . _:48a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SNUH | Seoul National University Hospital | 22158537" . _:48a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "UCPH | Danish T2D case-control study | 23160641" . _:48a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CAGE-AMAGASKI | Cardiometabolic Genome Epidemiology | 19262484" . _:48a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GRCCDS | Genomic Research Cohort for CCMB Diabetes Study | 11285330, 17093941" . _:48a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "INDICO | Indian Diabetes Consortium | 23209189" . _:48a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "BPC | Bangladesh Population Cohort | 20646756, 16160703 | HbA1c ≥6.5%. | HbA1c <6.0%. | Bangladesh | SAS" . _:48a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CHNS | China Health and Nutrition Survey | 19887509 | HbA1c ≥6.5%, fasting blood glucose ≥126mg/dl, T2D diagnosis from a physician after the age of 20 or taking T2D medication. | Not fulfilling case criteria. | China | EAS" . _:48a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "UCPH | Danish T2D case-control study | 23160641 | Self-report, anti-diabetic treatment, fasting plasma glucose >7.0mmol/l or 2-hr plasma glucose >11.1mmol/l. | Fasting plasma glucose <6.1mmol/l and, if measured, 2-hr plasma glucose <7.8mmol/l. | Denmark | EUR" . _:48aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "ESTBB | Estonian Biobank | 24518929 | ICD-10 codes. | Not fulfilling case criteria. | Estonia | EUR" . _:48ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "FINNGEN | FinnGen Study | N/A | Exclude type 1 diabetes (ICD-10 E100-E109), include medicine purchase ATC A10B, and include type 2 diabetes (ICD-10 E110-E119). | Not fulfilling case criteria, and exclude type 1 diabetes (ICD-10 E100-E109). | Finland | EUR" . _:48ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DGDG | Diabetes Gene Discovery Group | N/A | Hospital diagnosis based on HbA1c and fasting glucose. | No self-reported use of medication to treat diabetes and fasting or non-fasting glucose <7.0mmol/l. | France | EUR" . _:48ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GCKD | German Chronic Kidney Disease | 21862458 | Anti-diabetic medication (ATC code A10*) or HbA1c ≥6.5%. | Not fulfilling case criteria. | Germany | EUR" . _:48ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GOMAP-TEENAGE | Genetic Overlap between Metabolic and Psychiatric traits, and TEENs of Attica: Genes and Environment | 29125842, 23399026 | Previous diagnosis of T2D with or without psychiatric disease. | Adolescent students from Athens, Greece (prospective cohort study). | Greece | EUR" . _:48af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "HKDR | Hong Kong Diabetes Registry | N/A | WHO 1998 criteria: patients with classic type 1 diabetes with acute ketotic presentation or continuous requirement of insulin within one year of diagnosis were excluded. | Free of diabetes (until 2014). | Hong Kong | EAS" . _:48b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DECODE | deCODE Genetics | 24464100 | Diagnostic fasting glucose or HbA1c levels, hospital discharge diagnosis, use of oral diabetes medication or self-report. | Not fulfilling case criteria. | Iceland | EUR" . _:48b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GRCCDS | Genomic Research Cohort for CCMB Diabetes Study | 11285330, 17093941 | History of T2D or medication for it, and diagnosis of T2D by OGTT WHO 1999 criteria. | No history of diabetes or medication for it, and fasting glucose <6.1mmol/l, and 2hr glucose <7.8mmol/l. | India | SAS" . _:48b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "AASC | Anti-aging Study Cohort | 23598421 | HbA1c ≥6.5%, fasting glucose level >125mg/dl. | Free of T2D. | Japan | EAS" . _:48b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "MC | Mexico City | 21573907 | Fasting plasma glucose ≥7.0mmol/l or OGTT ≥11.1mmol/l for the 2hr sample. | No family history of type 2 diabetes and plasma glucose <7.8mmol/l after an OGTT. | Mexico | HIS" . _:48b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "NEO | Netherlands Epidemiology of Obesity | 23576214 | Fasting glucose ≥7.0mmol/l, or physician-diagnosed diabetes, or on diabetes treatment. | Fasting glucose <7.0mmol/l, and no treatment of diabetes. | Netherlands | EUR" . _:48b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "PROMIS | Pakistan Risk of Myocardial Infarction Study | 19404752 | HbA1c > 6.5 / Fasting glucose > 125 | No self-report of diabetes, no prior history of use of glucose lowering medication, no prior medical diagnosis, normal HbA1c and fasting glucose levels | Pakistan | SAS" . _:48b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "CLHNS | Cebu Longitudinal Health and Nutrition Survey | 20507864 | Overnight fasting plasma glucose level ≥7.0mmol/l or currently on anti-diabetic medication. | Not fulfilling case criteria. | Philippines | EAS" . _:48b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SCES | Singapore Chinese Eye Study | N/A | Self-reported history of T2D or HbA1c ≥6.5%. | No prior history of T2D and HbA1c <6.5%. | Singapore | EAS" . _:48b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "DDS/DCC | Durban Diabetes Study and Durban Diabetes Case Control | N/A | At least 18 years old and any of: HbA1c ≥6.5; fasting plasma glucose ≥7.0 mmol/l; 2-hour plasma glucose ≥11.1mmol/l; health professional confirmed diabetes; or currently receiving insulin for diabetes. | Not fulfilling case criteria. | South Africa | SAF" . _:48b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "SMC | Samsung Medical Center | N/A | Hospital diagnosis based on HbA1c, fasting glucose and 2-hour glucose. | Free of diabetes. | Korea | EAS" . _:48ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "RHS | Ragama Health Study | 19476560 | Fasting plasma glucose ≥7.0mmol/l and HbA1c ≥6.5%. | No past history of glucose intolerance, HbA1c ≤5.6%, or fasting plasma glucose <6.1mmol/l, and age ≥55 years. | Sri Lanka | SAS" . _:48bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "ULSAM | Uppsala Longitudinal Study of Adult Men | 16030278 | Hospital discharge register-defined diabetes before 2002. | Free of diabetes. | Sweden | EUR" . _:48bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "TWT2D | Taiwan Type 2 Diabetes | 20174558 | Medical records and fasting plasma glucose levels using ADA criteria. | No prior history of T2D, and HbA1c ranging from 3.4% to 6%. | Taiwan | EAS" . _:48bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "UKBB | UK Biobank | 25826379 | Self-reported medical history and relevant medication. | Free of diabetes. | UK | EUR, SAS" . _:48be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/supplementaryFiles"; rdfs:comment "GERA | Resource for Genetic Epidemiology on Adult Health and Aging | 27189021 | ICD9 codes. | Not fulfilling case criteria. | USA | AFA, EUR" . _:48bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90492734"; "Genetic drivers of heterogeneity in type 2 diabetes pathophysiology."; "PMID:38374256", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/fullTextXML"; rdfs:comment "Through the newly established Type 2 Diabetes Global Genomics Initiative, we present findings from a very large meta-analysis of T2D GWAS data, comprising more than 2.5 million individuals of diverse ancestry—an increase of nearly threefold in the effective sample size compared with previous efforts8,9." . _:48c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS012530"; "Improving Genetic Risk Prediction of CAD in Chinese by Multi-ancestry and Multi-trait GWAS Integration."; "PMID:42152175" . _:48c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international initiative that assembled genome-wide association studies of type 2 diabetes from studies in six ancestry groups (African American, East Asian, European, Hispanic, South African and South Asian), among them the DIAMANTE Consortium and the Million Veteran Program, and meta-analysed them to characterise the genetic contribution to type 2 diabetes and its aetiological heterogeneity across populations."; "PMID:38374256"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 428452; "individuals in the GWAS assembled for the 2024 multi-ancestry meta-analysis (T2D cases and controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/fullTextXML"; rdfs:comment "We assembled GWAS data, including 428,452 cases of T2D and 2,107,149 controls" . _:48c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2107149; "individuals in the GWAS assembled for the 2024 multi-ancestry meta-analysis (T2D cases and controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/fullTextXML"; rdfs:comment "We assembled GWAS data, including 428,452 cases of T2D and 2,107,149 controls" . _:48c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2535601; "individuals in the GWAS assembled for the 2024 multi-ancestry meta-analysis (T2D cases and controls)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10937372/fullTextXML"; rdfs:comment "Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D." . _:48c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T2D-GGI"; . _:48c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T2DGGI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20724; , ; ; ; "PGS005203", "PMID:40691366"; "A genotyped case-control sample from the sixth wave of the Tromsø Study, the population-based health study of the municipality of Tromsø in Northern Norway, in which participants who reported headache in the past year meeting modified ICHD criteria for migraine, or who reported previous or current migraine, were taken as migraine cases and the other participants genotyped as controls, first used in the International Headache Genetics Consortium's genome-wide meta-analysis of migraine."; 660; 2407; "T-6M", "TromsoMig"; ; rdfs:label "Tromso-6 Migraine"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20724 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20724; "migraine"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3598/MediaObjects/41588_2016_BFng3598_MOESM73_ESM.pdf"; rdfs:comment "660 migraine cases and 2,407 controls were genotyped and in included in this study." . _:48c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3598/MediaObjects/41588_2016_BFng3598_MOESM73_ESM.pdf"; rdfs:comment "The Tromsø Study is a population based health study of the Tromsø municipality of Northern Norway." . _:48c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3598/MediaObjects/41588_2016_BFng3598_MOESM73_ESM.pdf"; rdfs:comment "In the 6th wave of the study, which was used in the current study, 19,762 residents were invited and 12,984 (65.7%) participated (53% women, age range 30–87 years)." . _:48ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:48cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "Tromso-6 Migraine (TromsoMig)" . _:48cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genotyped case-control sample from the sixth wave of the Tromsø Study, the population-based health study of the municipality of Tromsø in Northern Norway, in which participants who reported headache in the past year meeting modified ICHD criteria for migraine, or who reported previous or current migraine, were taken as migraine cases and the other participants genotyped as controls, first used in the International Headache Genetics Consortium's genome-wide meta-analysis of migraine."; "PMID:27322543", "PMID:40691366"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 660; "migraine cases and controls from the sixth wave of the Tromsø Study, genotyped"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3598/MediaObjects/41588_2016_BFng3598_MOESM73_ESM.pdf"; rdfs:comment "660 migraine cases and 2,407 controls were genotyped and in included in this study." . _:48ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2407; "migraine cases and controls from the sixth wave of the Tromsø Study, genotyped"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3598/MediaObjects/41588_2016_BFng3598_MOESM73_ESM.pdf"; rdfs:comment "660 migraine cases and 2,407 controls were genotyped and in included in this study." . _:48cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "T-6M"; . _:48d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TromsoMig"; . a owl:NamedIndividual, ; ; "TAC"; ; rdfs:label "Telomerase Activity Cohort"@en . _:48d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20736; , , ; ; "PMID:32499647"; "A hospital-based cohort of patients with angina pectoris and objective documentation of myocardial ischaemia who underwent diagnostic coronary angiography or revascularisation at National Taiwan University Hospital at any time after October 2000, with questionnaire data including cardiovascular medication, electronic medical records and fasting blood samples taken before cardiac catheterisation. Collected independently of the similar TCAGEN study at the same hospital, it is one of the seven Taiwan-based cohorts of the TAICHI consortium."; 173; "TACT"; rdfs:label "TAiwan Coronary and Transcatheter intervention"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20736 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20736; "angina pectoris"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TACT (TAiwan Coronary and Transcatheter intervention) cohort study enrolled patients with angina pectoris and objective documentation of myocardial ischemia who underwent diagnostic coronary angiography and/or revascularization any time after October 2000 at the National Taiwan University Hospital (NTUH)." . _:48d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TACT (TAiwan Coronary and Transcatheter intervention) cohort study enrolled patients with angina pectoris and objective documentation of myocardial ischemia who underwent diagnostic coronary angiography and/or revascularization any time after October 2000 at the National Taiwan University Hospital (NTUH)." . _:48d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32499647"; "Identification of type 2 diabetes loci in 433,540 East Asian individuals."; "PMID:32499647", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-020-2263-3/MediaObjects/41586_2020_2263_MOESM1_ESM.pdf"; rdfs:comment "4) TAiwan Coronary and Transcatheter intervention (TACT), a cohort study that enrolled patients with angina pectoris and objective documentation of myocardial ischemia who underwent diagnostic coronary angiography and/or revascularization any time after October 2000 at the National Taiwan University Hospital (NTUH);" . _:48d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based cohort of patients with angina pectoris and objective documentation of myocardial ischaemia who underwent diagnostic coronary angiography or revascularisation at National Taiwan University Hospital at any time after October 2000, with questionnaire data including cardiovascular medication, electronic medical records and fasting blood samples taken before cardiac catheterisation. Collected independently of the similar TCAGEN study at the same hospital, it is one of the seven Taiwan-based cohorts of the TAICHI consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-020-2263-3/MediaObjects/41586_2020_2263_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 173; "Contributing sample in the GLGC 2013 Metabochip study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TACT (TAICHI)a 173 31.2 64.1 (10.7) 34.3 (8.0) 103.5 (24.3) 180.1 (36.8) 130.0 (74.2) Yes F F Yes PLINK" . _:48d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TACT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20743; , ; "PGS000740", "PMID:28604730"; "A hospital-based case-control study of lung cancer run from Washington State University at the H. Lee Moffitt Cancer Center in Tampa, Florida, United States, whose cases were patients with histologically confirmed primary lung cancer identified at the centre in 1999–2002 and recruited within a year of diagnosis, and whose cancer-free controls, matched to cases on age, race and sex, were recruited at the centre's affiliated Lifetime Cancer Screening Center."; 511; 820; "Tampa", "TampaLC", "The Washington State University Lung Cancer Study", "WSULC"; ; rdfs:label "Tampa Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20743; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "This study is a hospital case-control study of 511 subjects with newly-diagnosed (within 1 year of diagnosis) lung cancer and 820 race-, sex- and age-matched controls." . _:48d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-15905-6/MediaObjects/41467_2020_15905_MOESM1_ESM.pdf"; rdfs:comment "Tampa Lung Cancer Study Washington State University USA Hosp. CC* 1999-2003" . _:48da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:48db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Tampa Tampa Lung Cancer Study WSU P. Lazarus USA Hosp. CC 1999-2003 403 400 803" . _:48dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of lung cancer run from Washington State University at the H. Lee Moffitt Cancer Center in Tampa, Florida, United States, whose cases were patients with histologically confirmed primary lung cancer identified at the centre in 1999–2002 and recruited within a year of diagnosis, and whose cancer-free controls, matched to cases on age, race and sex, were recruited at the centre's affiliated Lifetime Cancer Screening Center."; "PMID:28604730", "PMID:32393777"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 511; "Tampa study lung cancer cases and matched controls described in the 2017 study profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "This study is a hospital case-control study of 511 subjects with newly-diagnosed (within 1 year of diagnosis) lung cancer and 820 race-, sex- and age-matched controls." . _:48de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 820; "Tampa study lung cancer cases and matched controls described in the 2017 study profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "This study is a hospital case-control study of 511 subjects with newly-diagnosed (within 1 year of diagnosis) lung cancer and 820 race-, sex- and age-matched controls." . _:48df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tampa"; . _:48e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TampaLC"; . _:48e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WSULC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20754; , ; ; "PGS000741", "PMID:33623038"; "A population-based prostate cancer case–control study in Finland, run from Tampere, whose cases were identified through linkage to the Finnish Cancer Registry, patient records and the Finnish arm of the European Randomized Study of Screening for Prostate Cancer (ERSPC), and whose controls are ERSPC cohort participants without a cancer diagnosis; it contributes to the PRACTICAL consortium."; 2412; 1179; 3591; "TAMPERE", "Tampere University Hospital", "Tampere study"; ; rdfs:label "Finnish Genetic Predisposition to Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20754 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20754; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "TAMPERE Finnish Genetic Predisposition to Prostate Cancer Study Tampere Finland Case-control - Finland, Retrospective, Observational, Population-based Johanna Schleutker European 2544 1226 2409 1179 Identified through linkage to the Finnish Cancer Registry and patient records; and the Finnish arm of the ERSPC study Cohort participants without a diagnosis of cancer" . _:48e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "TAMPERE Finnish Genetic Predisposition to Prostate Cancer Study Tampere Finland Case-control - Finland, Retrospective, Observational, Population-based" . _:48e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:48e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "TAMPERE The Tampere (Finland) study was supported by the Academy of Finland (251074), The Finnish Cancer Organisations, Sigrid Juselius Foundation, and the Competitive Research Funding of the Tampere University Hospital (X51003)." . _:48e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prostate cancer case–control study in Finland, run from Tampere, whose cases were identified through linkage to the Finnish Cancer Registry, patient records and the Finnish arm of the European Randomized Study of Screening for Prostate Cancer (ERSPC), and whose controls are ERSPC cohort participants without a cancer diagnosis; it contributes to the PRACTICAL consortium."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2412; "OncoArray-genotyped cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "TAMPERE (n=3591) Finnish Genetic Predisposition to Prostate Cancer Study Tampere, Finland Population- based, case- control, observational 1179 2412" . _:48e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1179; "OncoArray-genotyped cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "TAMPERE (n=3591) Finnish Genetic Predisposition to Prostate Cancer Study Tampere, Finland Population- based, case- control, observational 1179 2412" . _:48e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3591; "OncoArray-genotyped cases and controls"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "TAMPERE (n=3591) Finnish Genetic Predisposition to Prostate Cancer Study Tampere, Finland Population- based, case- control, observational 1179 2412" . _:48ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TAMPERE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20764, _:genid-371333f489424440b12a13b9d98ced822608-genid20766, _:genid-371333f489424440b12a13b9d98ced822608-genid20768; , ; "PGS004590", "PMID:37198259"; "A genome sequencing study of Colombians with neurodegenerative disease, chiefly early-onset or autosomal dominant Alzheimer's disease, the frontotemporal lobar degeneration–motor neuron disease spectrum and other early-onset dementias, together with affected and healthy relatives and unrelated healthy participants, recruited or referred to the Grupo de Neurociencias de Antioquia of the University of Antioquia, Medellín, Colombia, with recruitment targeting early-onset dementia and families with several affected first-degree relatives, to study the admixture and rare disease-causing variants underlying neurodegeneration in Colombia."; 900; "TANGL", "The Admixture and Neurodegeneration Genomic Landscape Study"; ; rdfs:label "The Admixture and Neurodegeneration Genomic Landscape"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20764 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20766 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20768 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20764; "early-onset dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8902761/fullTextXML"; rdfs:comment "Genomes from 900 Colombian individuals with Alzheimer’s disease (AD) [n = 376], frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND) [n = 197], early-onset dementia not otherwise specified (EOD) [n = 73], and healthy participants [n = 254] were analyzed." . _:48ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20766; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8902761/fullTextXML"; rdfs:comment "Genomes from 900 Colombian individuals with Alzheimer’s disease (AD) [n = 376], frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND) [n = 197], early-onset dementia not otherwise specified (EOD) [n = 73], and healthy participants [n = 254] were analyzed." . _:48ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20768; "frontotemporal lobar degeneration-motor neuron disease continuum"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8902761/fullTextXML"; rdfs:comment "Genomes from 900 Colombian individuals with Alzheimer’s disease (AD) [n = 376], frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND) [n = 197], early-onset dementia not otherwise specified (EOD) [n = 73], and healthy participants [n = 254] were analyzed." . _:48ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8902761/fullTextXML"; rdfs:comment "Participants were recruited or referred to the “Grupo de Neurociencias de Antioquia,” University of Antioquia, Colombia for “The Admixture and Neurodegeneration Genomic Landscape” (TANGL) study." . _:48ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004590"; "Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease."; "PMID:37198259" . _:48f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37198259"; "Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease."; "PMID:37198259", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10615750/fullTextXML"; rdfs:comment "Whole genomes from the Colombian population were accessed from “The Admixture and Neurodegeneration Genomic Landscape” (TANGL) study and quality controlled as previously described [67]." . _:48f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome sequencing study of Colombians with neurodegenerative disease, chiefly early-onset or autosomal dominant Alzheimer's disease, the frontotemporal lobar degeneration–motor neuron disease spectrum and other early-onset dementias, together with affected and healthy relatives and unrelated healthy participants, recruited or referred to the Grupo de Neurociencias de Antioquia of the University of Antioquia, Medellín, Colombia, with recruitment targeting early-onset dementia and families with several affected first-degree relatives, to study the admixture and rare disease-causing variants underlying neurodegeneration in Colombia."; "PMID:35260199"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 900; "Colombian individuals from 566 families with high-quality whole-genome sequences (after sequencing quality control), 2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8902761/fullTextXML"; rdfs:comment "Nine hundred Colombian individuals with high-quality genome sequences were included in “The Admixture and Neurodegeneration Genomic Landscape” (TANGL) study." . _:48f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TANGL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20776; , , ; "PGS005402", "PMID:41851747"; "A multicentre randomised controlled trial of colorectal cancer screening at six study centres in five Chinese provinces (Jiangsu, Zhejiang, Anhui, Hunan and Yunnan), which from May 2018 recruited adults aged 50–74 years from community-based screening programmes and randomised them to one-time colonoscopy, annual faecal immunochemical testing or a risk-adapted strategy (colonoscopy for high-risk and faecal immunochemical testing for low-risk participants), over four annual screening rounds completed in 2023."; 19582; "TARGET-C", "TARGET-C colorectal cancer screening trial (China)", "TARGET-C study", "TARGET-C trial", "TARGETC"; ; rdfs:label "Comparative Evaluation of Novel Screening Strategies for Colorectal Cancer Screening"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20776 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:48f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20776; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12642085/fullTextXML"; rdfs:comment "We conducted a comprehensive multicenter RCT in China, the Comparative Evaluation of Novel Screening Strategies for Colorectal Cancer Screening (TARGET-C), to assess the feasibility, adherence, diagnostic yield, and costs associated with colonoscopy, fecal immunochemical testing (FIT), and a risk-adapted screening approach [10]." . _:48f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13123215/fullTextXML"; rdfs:comment "The TARGET-C study (Comparative Evaluation of Novel Screening Strategies for Colorectal Cancer Screening) is a multicenter randomized controlled trial conducted in six study centers across five provinces in China (Jiangsu, Zhejiang, Anhui, Hunan, and Yunnan)." . _:48f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005402"; "Optimizing colorectal cancer screening through polygenic risk score-based risk stratification: evidence from a population-based cohort and screening trial."; "PMID:41851747" . _:48f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41851747"; "Optimizing colorectal cancer screening through polygenic risk score-based risk stratification: evidence from a population-based cohort and screening trial."; "PMID:41851747", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13123215/fullTextXML"; rdfs:comment "A total of 2,821 participants were included from a population-based CRC screening trial (TARGET-C)" . _:48f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised controlled trial of colorectal cancer screening at six study centres in five Chinese provinces (Jiangsu, Zhejiang, Anhui, Hunan and Yunnan), which from May 2018 recruited adults aged 50–74 years from community-based screening programmes and randomised them to one-time colonoscopy, annual faecal immunochemical testing or a risk-adapted strategy (colonoscopy for high-risk and faecal immunochemical testing for low-risk participants), over four annual screening rounds completed in 2023."; "PMID:41851747"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19582; "Participants enrolled in TARGET-C"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12642085/fullTextXML"; rdfs:comment "The TARGET-C trial enrolled 19,582 participants aged 50–74 years from 6 centers in China, randomized in a 1:2:2 ratio into 3 groups." . _:48fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TARGET-C"; . _:48fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TARGETC"; . a owl:NamedIndividual, ; , ; ; "PMID:27325353"; "A population-based longitudinal cohort of community-dwelling people aged 60 to 85 randomly selected from the Southern Tasmanian electoral roll in Australia, examined in three phases between 2005 and 2012 with questionnaires, objective gait, cognitive and sensorimotor testing and brain magnetic resonance imaging, to study gait, cognition and brain structure in older people."; 431; "TASCOG", "TasCog", "Tasmanian study of cognition and gait"; rdfs:label "Tasmanian Study of Cognition and Gait"@en . _:48fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9434440/fullTextXML"; rdfs:comment "The Tasmanian Study of Cognition and Gait (TASCOG) is a population-based longitudinal cohort study of community-dwelling older individuals aged between 60 and 85 years who were randomly recruited from the Southern Tasmanian Electoral Roll, Australia between 2005 and 2012." . _:48fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27325353"; "GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium."; "PMID:27325353", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5013019/fullTextXML"; rdfs:comment "The discovery phase of this GWAS was conducted on 27 581 subjects from the following 14 participating studies of the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE); the Age, Gene/Environment Susceptibility Study (AGES); the Cardiovascular Health Study (CHS); the Framingham Heart Study (FHS); the Health, Aging, and Body Composition (Health ABC) Study; the Health and Retirement Study (HRS); the InCHIANTI Study; the Lothian Birth Cohort Studies (1921 and 1936); the Osteoporotic Fractures in Men Study (MrOS); Religious Order Study, Memory and Aging Project (MAP/ROS); the Study of Health in Pomerania (SHIP); the Study of Osteoporotic Fractures (SOF); the Tasmanian Study of Cognition and Gait (TasCog); and the Twins UK Study." . _:48fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of community-dwelling people aged 60 to 85 randomly selected from the Southern Tasmanian electoral roll in Australia, examined in three phases between 2005 and 2012 with questionnaires, objective gait, cognitive and sensorimotor testing and brain magnetic resonance imaging, to study gait, cognition and brain structure in older people."; "PMID:30618725", "PMID:31956917", "PMID:35363862"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:48ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 431; "community-dwelling adults aged 60-85 enrolled at baseline from the Southern Tasmanian electoral roll"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6305368/fullTextXML"; rdfs:comment "A community dwelling sample of adults aged between 60 and 85 years (n = 431) were randomly selected from the Southern Tasmanian electoral roll." . _:49002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TASCOG"; . _:49012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TasCog"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20791; , ; ; "PMID:33436325"; "The prostate cancer resource of the Menzies Institute for Medical Research, University of Tasmania, in Hobart, made up of the Tasmanian Familial Prostate Cancer Study, begun in the late 1990s, of prostate cancer families of Northern European descent identified through the Menzies Genealogical database, the Tasmanian Cancer Registry and local clinicians, and the population-based Tasmanian Prostate Cancer Case-Control Study, whose cases were ascertained through the Tasmanian Cancer Registry and whose male controls were selected at random from the Tasmanian electoral roll; it contributes to the PRACTICAL consortium."; 1963; "TASPRAC", "Tasprac", "Tasprac study", "University of Tasmania Prostate Cancer Study"; rdfs:label "TASPRAC Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20791 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20791; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8381233/supplementaryFiles"; rdfs:comment "TASPRAC The Tasmanian Familial Prostate Cancer Study and the Tasmanian Prostate Cancer Case Control study were funded by Cancer Australia, Cancer Council Tasmania, the Royal Hobart Hospital Research Foundation, Perpetual Trustees, the Mazda Foundation and the Max Bruce Trust." . _:49032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8381233/supplementaryFiles"; rdfs:comment "Population-based, familial & case-control studies, Tasmania, Australia" . _:49042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33436325"; "Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study."; "PMID:33436325", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8381233/supplementaryFiles"; rdfs:comment "TASPRAC The Tasmanian Familial Prostate Cancer Study and the Tasmanian Prostate Cancer Case Control study were funded by Cancer Australia, Cancer Council Tasmania, the Royal Hobart Hospital Research Foundation, Perpetual Trustees, the Mazda Foundation and the Max Bruce Trust." . _:49052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The prostate cancer resource of the Menzies Institute for Medical Research, University of Tasmania, in Hobart, made up of the Tasmanian Familial Prostate Cancer Study, begun in the late 1990s, of prostate cancer families of Northern European descent identified through the Menzies Genealogical database, the Tasmanian Cancer Registry and local clinicians, and the population-based Tasmanian Prostate Cancer Case-Control Study, whose cases were ascertained through the Tasmanian Cancer Registry and whose male controls were selected at random from the Tasmanian electoral roll; it contributes to the PRACTICAL consortium."; "PMID:33436325", "PMID:39001544"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1963; "individuals of the full Australian familial and case-control resources genotyped"; "PMID:39001544"; rdfs:comment "Rare DDR gene variants (predicted to be damaging and present in two or more family members) were identified and subsequently genotyped in 1963 individuals (700 familial and 459 sporadic PrCa cases, 482 unaffected relatives, and 322 screened controls), and association analyses accounting for relatedness (MQLS) undertaken." . _:49072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TASPRAC"; . _:49082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tasprac"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20799; , ; ; "PGS004241", "PMID:21750109"; "A hospital-based case-control study of bladder cancer in Torino (Turin), Italy, whose cases were men living in the Torino metropolitan area newly diagnosed with bladder cancer between 1994 and 2006 in the urology departments of the San Giovanni Battista Hospital, and whose controls were men from the same area treated in the same hospital for benign diseases."; "The acronym TBCS also denotes IARC-Thai Breast Cancer Study (COHO:0002718); this term is Torino Bladder Cancer Study."@en; 328; 389; "TBCS", "Torino Bladder Cancer Case Control Study", "Torino bladder cancer study"; ; rdfs:label "Torino Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20799 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20799; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "They were newly diagnosed between 1994 and 2006 with a histologically confirmed, invasive or in situ, bladder cancer." . _:490a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "TBCS Torino Bladder Cancer Study 401 379 100 Italy: hospital-based (48)" . _:490b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004241"; "Potential utility of risk stratification for multicancer screening with liquid biopsy tests."; "PMID:37087533" . _:490c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21750109"; "European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene."; "PMID:21750109", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The sources of cases for the Torino bladder cancer study were two urology departments of the main hospital in Torino, the San Giovanni Battista Hospital (32)." . _:490d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of bladder cancer in Torino (Turin), Italy, whose cases were men living in the Torino metropolitan area newly diagnosed with bladder cancer between 1994 and 2006 in the urology departments of the San Giovanni Battista Hospital, and whose controls were men from the same area treated in the same hospital for benign diseases."; "PMID:19706757", "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:490e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 328; "Torino participants in the own 1994–2006 cohort description reported in 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The participation rates were 90% for cases and 75% for controls, resulting in 328 cases and 389 controls." . _:490f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 389; "Torino participants in the own 1994–2006 cohort description reported in 2011"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The participation rates were 90% for cases and 75% for controls, resulting in 328 cases and 389 controls." . _:49102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20808; , ; ; "PGS000793", "PMID:23382860"; "A population-based case-control study of epithelial ovarian cancer run by the Moffitt Cancer Center in Tampa, Florida, United States, which since 2000 has recruited women newly diagnosed with ovarian cancer, through rapid case ascertainment in the two most populous counties of the Tampa Bay region, and control women, with data collected by interview."; 285; 205; "TBO", "TBOCS"; ; rdfs:label "Tampa Bay Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20808 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20808; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "TBO (35) USA Tampa Bay Ovarian Cancer Study 2000-present Population-based Interview 60.53 (10.85) 205 (41.8) 285 (58.2)" . _:49122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3108163/"; rdfs:comment "Tampa Bay Ovarian Cancer Study TBOCS TBO USA" . _:49132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000793"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:49142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23382860"; "Inherited variants in regulatory T cell genes and outcome of ovarian cancer."; "PMID:23382860", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3559692/"; rdfs:comment "In brief, participants were 2,167 self-reported white invasive ovarian cancer cases enrolled in the North Carolina Ovarian Cancer Study (NCO), the NCI Ovarian Case-Control Study in Poland (POL), the Royal Marsden Cancer Study (RMH), the UK Studies of Epidemiology and Risk Factors in Cancer Heredity Ovarian Cancer Study (SEA), the Tampa Bay Ovarian Cancer Study (TBO), and the UK Familial Ovarian Cancer Registry and the UK Ovarian Cancer Population Study (UKR+UKO)." . _:49152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer run by the Moffitt Cancer Center in Tampa, Florida, United States, which since 2000 has recruited women newly diagnosed with ovarian cancer, through rapid case ascertainment in the two most populous counties of the Tampa Bay region, and control women, with data collected by interview."; "PMID:22891074", "PMID:23047549", "PMID:36688720"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 285; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "TBO (35) USA Tampa Bay Ovarian Cancer Study 2000-present Population-based Interview 60.53 (10.85) 205 (41.8) 285 (58.2)" . _:49172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 205; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "TBO (35) USA Tampa Bay Ovarian Cancer Study 2000-present Population-based Interview 60.53 (10.85) 205 (41.8) 285 (58.2)" . _:49182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBO"; . _:49192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20818, _:genid-371333f489424440b12a13b9d98ced822608-genid20820; , , ; , ; "PMID:33976506"; "A hospital-based study of patients with cardiovascular disease receiving care at Taichung Veterans General Hospital in Taichung, Taiwan, chiefly people hospitalised for diagnostic and interventional coronary angiography and treatment, together with patients with a history of myocardial infarction or coronary revascularisation, whose angiographic and clinical records are used to study the severity and outcomes of stable coronary artery disease and whose DNA contributes to the TAICHI Consortium's genetic studies."; 2284; "TCAD", "Taichung CAD Study"; rdfs:label "Taichung CAD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20818 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20820 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:491a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20818; "cardiovascular diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3605054/supplementaryFiles"; rdfs:comment "TCAD (Taichung CAD study): the study includes patients with a variety of cardiovascular diseases receiving care at the Taichung Veterans General Hospital." . _:491b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20820; "coronary artery disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3605054/supplementaryFiles"; rdfs:comment "TCAD (Taichung CAD study): the study includes patients with a variety of cardiovascular diseases receiving care at the Taichung Veterans General Hospital." . _:491c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4794124/fullTextXML"; rdfs:comment "The TCAD was supported by grants from National Science Council (NSC 98-2314-B-075A-002-MY3) and Taichung Veterans General Hospital, Taichung, Taiwan (TCVGH-1013001C;TCVGH-1013002D)." . _:491d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33976506"; "Dyslipidemia, Not Inflammatory Markers or Adipokines, Contributes Significantly to a Higher SYNTAX Score in Stable Coronary Artery Disease (from the Taichung CAD Study)."; "PMID:33976506", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33976506+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Dyslipidemia, Not Inflammatory Markers or Adipokines, Contributes Significantly to a Higher SYNTAX Score in Stable Coronary Artery Disease (from the Taichung CAD Study)." . _:491e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based study of patients with cardiovascular disease receiving care at Taichung Veterans General Hospital in Taichung, Taiwan, chiefly people hospitalised for diagnostic and interventional coronary angiography and treatment, together with patients with a history of myocardial infarction or coronary revascularisation, whose angiographic and clinical records are used to study the severity and outcomes of stable coronary artery disease and whose DNA contributes to the TAICHI Consortium's genetic studies."; "PMID:25818243", "PMID:33976506", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3874/MediaObjects/41588_2017_BFng3874_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-020-2263-3/MediaObjects/41586_2020_2263_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:491f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2284; "TCAD participants with Metabochip genotypes and lipid data in the Global Lipids Genetics Consortium 2013 study (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TCAD (TAICHI)a 2284 23.3 65.8 (11.7) 44.0 (12.5) 112.3 (40.7) 182.6 (42.4) 133.2 (84.7) Yes F F Yes PLINK 17967444" . _:49202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20827, _:genid-371333f489424440b12a13b9d98ced822608-genid20829; , , ; ; "PMID:32499647"; "An ongoing hospital-based cohort of patients undergoing coronary angiography or percutaneous coronary intervention for stable angina pectoris or prior myocardial infarction at National Taiwan University Hospital, enrolling patients both in the north of Taiwan, where the main hospital is, and at a branch of the hospital in south-central Taiwan, with electronic medical records, fasting blood samples taken before cardiac catheterisation and blood collected in the catheter laboratory for DNA. It is one of the seven Taiwan-based cohorts of the TAICHI consortium."; 383; "TCAGEN"; rdfs:label "Taiwan Coronary Artery Disease GENetic study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20827 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20829 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20827; "angina pectoris"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TCAGEN (Taiwan Coronary Artery Disease GENetic) study is an ongoing cohort study that has been enrolling patients undergoing coronary angiography or percutaneous intervention at the National Taiwan University Hospital (NTUH) in the setting of either stable angina pectoris or prior myocardial infarction." . _:49222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20829; "myocardial infarction"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TCAGEN (Taiwan Coronary Artery Disease GENetic) study is an ongoing cohort study that has been enrolling patients undergoing coronary angiography or percutaneous intervention at the National Taiwan University Hospital (NTUH) in the setting of either stable angina pectoris or prior myocardial infarction." . _:49232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "Participants are not only from the north of Taiwan where the main NTU medical school/hospital is located, but also from Yulin branch of NTUH, located in south/central Taiwan." . _:49242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32499647"; "Identification of type 2 diabetes loci in 433,540 East Asian individuals."; "PMID:32499647", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-020-2263-3/MediaObjects/41586_2020_2263_MOESM1_ESM.pdf"; rdfs:comment "6) Taiwan Coronary Artery Disease GENetic (TCAGEN), a cohort study that enrolled patients undergoing coronary angiography or percutaneous intervention at the National Taiwan University Hospital (NTUH) in the setting of either stable angina pectoris or prior myocardial infarction;" . _:49252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing hospital-based cohort of patients undergoing coronary angiography or percutaneous coronary intervention for stable angina pectoris or prior myocardial infarction at National Taiwan University Hospital, enrolling patients both in the north of Taiwan, where the main hospital is, and at a branch of the hospital in south-central Taiwan, with electronic medical records, fasting blood samples taken before cardiac catheterisation and blood collected in the catheter laboratory for DNA. It is one of the seven Taiwan-based cohorts of the TAICHI consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3874/MediaObjects/41588_2017_BFng3874_MOESM1_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-020-2263-3/MediaObjects/41586_2020_2263_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 383; "Contributing sample in the GLGC 2013 Metabochip study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2797/MediaObjects/41588_2013_BFng2797_MOESM43_ESM.pdf"; rdfs:comment "TCAGEN (TAICHI)a 383 34.7 64.3 (13.3) 45.5 (17.7) 112.1 (37.0) 185.5 (44.6) 166.9 (131.6) Yes F F Yes PLINK" . _:49272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCAGEN"; . a owl:NamedIndividual, ; ; "TCCS"; ; rdfs:label "Toronto case-control study"@en . _:49282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCCS"; . a owl:NamedIndividual, ; , ; "PMID:30597647"; "A family-based, population-based genetic cohort in Tehran, Iran, designed by the Research Institute for Endocrine Sciences in collaboration with deCODE genetics, that genotyped participants of the Tehran Lipid and Glucose Study genome-wide and links their genotypes to the behavioural, biochemical and clinical data collected since 1999, later extended to participants of four ongoing studies with periodic follow-up, to identify genetic factors in cardiometabolic risk factors, cancers and other non-communicable diseases."; "The acronym TCGS also denotes Transcontinental COPD Genetics Study (COHO:0002446); this term is Tehran Cardiometabolic Genetic Study."@en; 20367; "TCGS", "Tehran cardiometabolic genetic study"; rdfs:label "Tehran Cardiometabolic Genetic Study"@en . _:49292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30597647+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS)." . _:492a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30597647"; "A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS)."; "PMID:30597647", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30597647+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS)." . _:492b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family-based, population-based genetic cohort in Tehran, Iran, designed by the Research Institute for Endocrine Sciences in collaboration with deCODE genetics, that genotyped participants of the Tehran Lipid and Glucose Study genome-wide and links their genotypes to the behavioural, biochemical and clinical data collected since 1999, later extended to participants of four ongoing studies with periodic follow-up, to identify genetic factors in cardiometabolic risk factors, cancers and other non-communicable diseases."; "PMID:28232301", "PMID:37169991"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:492c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20367; "TCGS participants selected from four ongoing source studies in the 2023 profile"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10175059/fullTextXML"; rdfs:comment "TCGS has created a comprehensive database comprising 20,367 participants born between 1911 and 2015 selected from four main ongoing studies in a family-based longitudinal framework." . _:492d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20842, _:genid-371333f489424440b12a13b9d98ced822608-genid20844; , , , , ; "PMID:22140090"; "A case-control genetic study of chronic obstructive pulmonary disease made up of two case-control studies, one in Poland, enrolled through the Institute of Tuberculosis and Lung Diseases in Warsaw, and one in Korea, at four university hospitals, which recruited smokers aged 40 to 80 with at least 10 pack-years of smoking: cases with severe to very severe airflow obstruction and controls with normal lung function."; "The acronym TCGS also denotes Tehran Cardiometabolic Genetic Study (COHO:0002445); this term is Transcontinental COPD Genetics Study."@en; "TCGS", "TCOPDGS"; rdfs:label "Transcontinental COPD Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20842 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20844 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:492e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20842; "cigarette smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5716321/fullTextXML"; rdfs:comment "All TCGS subjects were over the age of 40 with at least 10 pack-years of cigarette smoking history." . _:492f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20844; "chronic obstructive pulmonary disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5716321/fullTextXML"; rdfs:comment "We enrolled severe COPD subjects and smoker controls in Korea and Poland in the Transcontinental COPD Genetics Study (TCGS) and severe COPD cases in a study of frequent and infrequent exacerbators from the USA." . _:49302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5716321/fullTextXML"; rdfs:comment "We enrolled severe COPD subjects and smoker controls in Korea and Poland in the Transcontinental COPD Genetics Study (TCGS) and severe COPD cases in a study of frequent and infrequent exacerbators from the USA." . _:49312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22140090"; "Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP."; "PMID:22140090", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3284120/"; rdfs:comment "Subjects were participants in the Transcontinental COPD Genetics Study (TCGS) and were recruited at clinical centers throughout Poland." . _:49322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genetic study of chronic obstructive pulmonary disease made up of two case-control studies, one in Poland, enrolled through the Institute of Tuberculosis and Lung Diseases in Warsaw, and one in Korea, at four university hospitals, which recruited smokers aged 40 to 80 with at least 10 pack-years of smoking: cases with severe to very severe airflow obstruction and controls with normal lung function."; "PMID:22140090", "PMID:28166215", "PMID:29238186"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCGS"; . _:49342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCOPDGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20851, _:genid-371333f489424440b12a13b9d98ced822608-genid20853; , ; "PGS000801", "PMID:17354224"; "A colonoscopy-based case-control study of colorectal polyps conducted by Vanderbilt University Medical Center in Nashville, Tennessee, from 2003 to 2010, which enrolled patients undergoing colonoscopy at the Vanderbilt gastroenterology clinic and the Nashville Veterans Affairs medical centre, taking those found to have adenomatous or hyperplastic polyps as cases and polyp-free patients as controls, to study dietary, lifestyle and genetic risk factors for colorectal polyps."; 7621; "TCPS"; ; rdfs:label "Tennessee Colorectal Polyp Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20851 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20853 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20851; "adenomatous polyp"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17354224+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Included in this study were participants with adenomatous polyp only (n = 573), hyperplastic polyp only (n = 256), or both adenomatous and hyperplastic polyps (n = 199), and 1,544 polyp-free controls." . _:49362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20853; "hyperplastic polyp"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17354224+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Included in this study were participants with adenomatous polyp only (n = 573), hyperplastic polyp only (n = 256), or both adenomatous and hyperplastic polyps (n = 199), and 1,544 polyp-free controls." . _:49372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7266682/"; rdfs:comment "In brief, the TCPS was conducted from February 2003 to October 2010 and included 7621 participants recruited from colonoscopy clinics at Vanderbilt University Medical Center and the Tennessee Valley Veterans Affairs Medical Center (Supplemental Figure 1)." . _:49382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000801"; "Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies."; "PMID:31038671" . _:49392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:17354224"; "Meat and meat-mutagen intake, doneness preference and the risk of colorectal polyps: the Tennessee Colorectal Polyp Study."; "PMID:17354224", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17354224+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Meat and meat-mutagen intake, doneness preference and the risk of colorectal polyps: the Tennessee Colorectal Polyp Study." . _:493a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A colonoscopy-based case-control study of colorectal polyps conducted by Vanderbilt University Medical Center in Nashville, Tennessee, from 2003 to 2010, which enrolled patients undergoing colonoscopy at the Vanderbilt gastroenterology clinic and the Nashville Veterans Affairs medical centre, taking those found to have adenomatous or hyperplastic polyps as cases and polyp-free patients as controls, to study dietary, lifestyle and genetic risk factors for colorectal polyps."; "PMID:17354224", "PMID:39812514", "PMID:39977302"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:493b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7621; "TCPS participants recruited before colonoscopy, 2003-2010"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7266682/"; rdfs:comment "In brief, the TCPS was conducted from February 2003 to October 2010 and included 7621 participants recruited from colonoscopy clinics at Vanderbilt University Medical Center and the Tennessee Valley Veterans Affairs Medical Center (Supplemental Figure 1)." . _:493c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TCPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20861, _:genid-371333f489424440b12a13b9d98ced822608-genid20863, _:genid-371333f489424440b12a13b9d98ced822608-genid20865, _:genid-371333f489424440b12a13b9d98ced822608-genid20867; , , , , , ; "PGS000024", "PMID:32770166"; "A multicentre, multinational prospective birth cohort study, run from six clinical centres in the United States, Finland, Germany and Sweden, that screened newborns from the general population and first-degree relatives of people with type 1 diabetes for high-risk HLA genotypes, enrolled eligible children before four months of age and follows them to age 15, to identify infectious, dietary and other environmental exposures associated with islet autoimmunity and type 1 diabetes."; 8676; "TEDDY", "The Environmental Determinants of Diabetes in the Young", "The Environmental Determinants of Diabetes in the Young (TEDDY) Study", "The Environmental Determinants of Diabetes in the Young (TEDDY) study"; ; rdfs:label "The Environmental Determinants of Diabetes in the Young Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20861 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20863 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20865 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20867 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:493d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20861; "type 1 diabetes"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6415767/"; rdfs:comment "The Environmental Determinants of Diabetes in the Young (TEDDY) Study follows from birth 8676 children with T1D risk HLA-DR-DQ genotypes in the USA, Finland, Germany, and Sweden." . _:493e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20863; "infectious agents"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17850472+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The primary objective of this multicenter, multinational, epidemiological study is the identification of infectious agents, dietary factors, or other environmental exposures that are associated with increased risk of autoimmunity and type 1 diabetes mellitus (T1DM)." . _:493f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20865; "dietary factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17850472+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The primary objective of this multicenter, multinational, epidemiological study is the identification of infectious agents, dietary factors, or other environmental exposures that are associated with increased risk of autoimmunity and type 1 diabetes mellitus (T1DM)." . _:49402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20867; "other environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17850472+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The primary objective of this multicenter, multinational, epidemiological study is the identification of infectious agents, dietary factors, or other environmental exposures that are associated with increased risk of autoimmunity and type 1 diabetes mellitus (T1DM)." . _:49412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42361128+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Environmental Determinants of Diabetes in the Young (TEDDY) Study followed 7659 newborns with genetic susceptibility to T1D for 6 years in the USA, Finland, Germany, and Sweden." . _:49422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000024"; "A combined risk score enhances prediction of type 1 diabetes among susceptible children."; "PMID:32770166" . _:49432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32770166"; "A combined risk score enhances prediction of type 1 diabetes among susceptible children."; "PMID:32770166", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7556983/unicode"; rdfs:comment "The Environmental Determinants of Diabetes in the Young (TEDDY) study screened 425,000 children from the USA, Sweden, Germany and Finland and prospectively studied 8,676 from birth through age 15 years." . _:49442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, multinational prospective birth cohort study, run from six clinical centres in the United States, Finland, Germany and Sweden, that screened newborns from the general population and first-degree relatives of people with type 1 diabetes for high-risk HLA genotypes, enrolled eligible children before four months of age and follows them to age 15, to identify infectious, dietary and other environmental exposures associated with islet autoimmunity and type 1 diabetes."; "PMID:17850472", "PMID:32770166"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8676; "children with high-risk HLA-DR-DQ genotypes enrolled from birth, 2004-2010 (922 first-degree relatives of people with T1D, 7754 general-population children)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6415767/"; rdfs:comment "The Environmental Determinants of Diabetes in the Young (TEDDY) Study follows from birth 8676 children with T1D risk HLA-DR-DQ genotypes in the USA, Finland, Germany, and Sweden." . _:49462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TEDDY"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20875; , ; "PMID:20159242"; "A 3-year multicentre observational cohort study of patients aged 6 years or older with severe or difficult-to-treat asthma, enrolled from January to October 2001 by more than 400 pulmonologists and allergists in the United States and sponsored by Genentech and Novartis, with data on demographics, medical history, comorbidities, asthma control, health care use, medication use, lung function, IgE levels, asthma triggers and quality of life collected semiannually and annually to characterise the natural history of the disease."; 4756; "Epidemiology and Natural History of Asthma: Outcomes and Treatment Regimens", "TENOR", "TENOR I", "TENOR I study", "TENOR study", "The Epidemiology and Natural History of Asthma: Outcomes and Treatment Regimens (TENOR) study"; rdfs:label "The Epidemiology and Natural History of Asthma: Outcomes and Treatment Regimens"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20875 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20875; "severe or difficult-to-treat asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14756462+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The TENOR study is a 3-year, multicenter, observational study of patients with severe or difficult-to-treat asthma." . _:49482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14756462+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From January through October 2001, more than 400 US pulmonologists and allergists enrolled patients." . _:49492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20159242"; "Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions."; "PMID:20159242", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2824608/"; rdfs:comment "In this study, we performed GWAS of asthma in The Epidemiology and Natural History of Asthma: Outcomes and Treatment Regimens (TENOR) population of severe or difficult to treat asthmatics to search for novel genes and to confirm previously identified genes involved in asthma." . _:494a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A 3-year multicentre observational cohort study of patients aged 6 years or older with severe or difficult-to-treat asthma, enrolled from January to October 2001 by more than 400 pulmonologists and allergists in the United States and sponsored by Genentech and Novartis, with data on demographics, medical history, comorbidities, asthma control, health care use, medication use, lung function, IgE levels, asthma triggers and quality of life collected semiannually and annually to characterise the natural history of the disease."; "PMID:14756462", "PMID:20159242", "PMID:22694932"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:494b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4756; "patients with severe or difficult-to-treat asthma enrolled who completed a baseline visit (2001)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A14756462+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 4,756 patients enrolled and completed a baseline visit." . _:494c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TENOR"; . _:494d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TENOR I"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20883; , ; ; "PGS000350", "PMID:25173106"; "A study of the eyes of twins, begun in 2000 by the University of Tasmania and the Centre for Eye Research Australia, that recruited twins aged five years and over and some of their siblings, mostly in Tasmania, Australia, through earlier Tasmanian cohort studies, the Australian Twin Registry, schools and local publicity, and gave them ophthalmic examinations, to find genes for blinding eye diseases and quantitative eye traits."; "TEST", "Twin Eye Study in Tasmania", "Twins Eye Study Tasmania", "Twins eye study in Tasmania"; ; rdfs:label "Twins Eye Study in Tasmania"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20883 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:494e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20883; "eye diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19803772+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Unravelling the mechanisms underpinning important blinding diseases could allow preventative or curative steps to be implemented. Twin siblings provide a unique opportunity in biology to discover genes associated with numerous eye diseases and ocular biometry." . _:494f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-018-0127-7/MediaObjects/41588_2018_127_MOESM1_ESM.pdf"; rdfs:comment "TEST Australia population based twin study 267 46.10(12.25) 50.3 -0.54(1.99)" . _:49502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000350"; "Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis."; "PMID:31436842" . _:49512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25173106"; "Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma."; "PMID:25173106", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4177225/fullTextXML"; rdfs:comment "The discovery cohorts included 27,558 individuals of European ancestry from 14 studies (ALIENOR, BATS, BMES,29,30 ERF,31,32 Framingham Family Study,33 GHS1, GHS2, ORCADES,34 RAINE, 35-37 RS-I, RS-II, RS-III,38 TEST39 and TwinsUK40)." . _:49522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of the eyes of twins, begun in 2000 by the University of Tasmania and the Centre for Eye Research Australia, that recruited twins aged five years and over and some of their siblings, mostly in Tasmania, Australia, through earlier Tasmanian cohort studies, the Australian Twin Registry, schools and local publicity, and gave them ophthalmic examinations, to find genes for blinding eye diseases and quantitative eye traits."; "PMID:19803772"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TEST"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. 'Texas-GWA study' is the name other groups (ICR's UK lung cancer GWAS papers) gave to the MD Anderson lung cancer GWAS of Amos et al. 2008: 1,154 ever-smoking European-ancestry lung cancer cases and 1,137 frequency-matched controls from Houston. That is exactly COHO:0000874 'MD Anderson Cancer Center lung cancer study' (definition from PMID:18385676: 1,154 cases and 1,137 controls from Houston, Texas). Add 'Texas-GWA study' as a synonym and the Catalog id 'Texas' as an acronym (no other COHO term uses 'Texas' as an acronym). Obsolete placeholder COHO:0002451 in its favour. Note COHO:0000874 already shares the acronym MDACC with COHO:0000875 (melanoma). Replaced by COHO:0000874 (MD Anderson Cancer Center lung cancer study), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Texas-GWA study"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-29. Checked 2026-09-27: The id is tied to a GWAS but not to a named cohort. 'Twin families EBNA-1 genome-wide association study' is the EBNA-1 IgG GWAS of Zhou et al. 2016 (Mult Scler, PMID:26819262), done in 'an unselected twin family cohort' by a Menzies Institute (Tasmania) and QIMR (Brisbane) team and meta-analysed with the Mexican-American family GWAS (MAFEGWAS, E658). The paper is closed (the publisher returned 403 to the download) and neither its abstract nor the two conference abstracts of the same study name the twin family cohort, so I cannot say which QIMR twin sample it is (COHO has, among others, the Brisbane Longitudinal Twin Study COHO:0000744, the Australian Twin Registry COHO:0000015 and the Australian twin-family studies COHO:0000841). Reading the methods of PMID:26819262 should settle it. TFEGWAS denotes the twin-family half of the EBNA-1 IgG GWAS of Zhou et al. 2016: 'an unselected twin family cohort' studied by a Menzies Institute (Tasmania) and Queensland Institute of Medical Research (Brisbane) team, most probably one of QIMR's existing twin studies (the Brisbane Longitudinal Twin Study, COHO:0000744, is a candidate, but only a candidate). The texts I could read never name the cohort, so I leave the id unresolved rather than attach it to a COHO term by guess; its sister id MAFEGWAS (E658) is settled as the San Antonio Family Study. Completed 2026-09-29: Duplicate of COHO:0000744 (Brisbane Longitudinal Twin Study, also Brisbane Adolescent Twin Study, BATS/BLTS). The document that could not be read before, the full text of PMID:26819262 (now cached as https://doi.org/10.1177/1352458515626598), names the analysis and its cohort: 'Queensland Institute of Medical Research (QIMR) twin families EBNA-1 genome-wide association study (QTFEGWAS)' and '3760 individuals from 1020 families in the QIMR Twin Family Cohort Study were studied'. The Catalog's name is that analysis's name, so the id is identified. For the cohort's blood collection the paper cites two references, a QIMR genome scan for naevus count in 424 twin families (PMID:17063143, abstract read: '1024 twins and siblings, plus genotypes for 690 parents', the Brisbane twin naevus families) and 'Brisbane Adolescent Twin Study: Outline of study methods and research projects' (the BATS design paper, not in PubMed and not read), and its funding section thanks 'the Brisbane twins and their families'. Its sample (twins, siblings and 1,243 parents, genotyped on the Illumina 610-Quad) is the BLTS sample as other papers describe it ('The entire BLTS sample and 1,549 of their parents have GWAS data (Illumina 610k chip)', tp.2016.36 supplement). So TFEGWAS is an analysed subset of the BLTS families, not a cohort of its own, and is merged into COHO:0000744 as its sister id MAFEGWAS was merged into the San Antonio Family Study (COHO:0000649). The umbrella term is chosen over the Brisbane Twin Nevus Study (COHO:0001550, the BLTS twin mole study that the naevus reference describes), because the paper names the cohort as a whole and cites the BATS outline as well; the curator may prefer COHO:0001550 if the families are read as the naevus study's alone. Names: carry the PGS Catalog id TFEGWAS as an acronym and add the paper's name for the cohort, 'QIMR Twin Family Cohort Study', as a synonym; do not carry the Catalog's name, which names the GWAS (as the MAFEGWAS name was not carried), nor the paper's analysis acronym QTFEGWAS. Not the Queensland Twin Registry (COHO:0001226, founded 2006) or the Australian Twin Registry (COHO:0000015): the paper points to the Brisbane adolescent twins. The Catalog uses the id in no score. Replaced by COHO:0000744 (Brisbane Longitudinal Twin Study), which now carries this term's names. Found by the checks of the placeholders' names against their sources recorded in the pipeline repository, completed 2026-09-29."@en; rdfs:label "obsolete Twin families EBNA-1 genome-wide association study"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id TGS (The Gothenburg Study) names two cohorts, both already in COHO: MrOS Gothenburg in the scores from PMID:40691366 (COHO:0000892) and the Gothenburg H70 Birth Cohort Studies in the scores from PMID:42237039 (COHO:0000666). It is not one cohort; the id is an acronym of both terms. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete The Gothenburg Study"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The Taiwan Genome Wide Association Study (PMID:22344219) is the Academia Sinica type 2 diabetes case-control GWAS whose cases come from the Taiwan type 2 diabetes study and whose controls come from the Han Chinese Cell and Genome Bank: the collection COHO holds as the Taiwan Type 2 Diabetes Study. Replaced by COHO:0000161 (Taiwan Type 2 Diabetes Study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Taiwan Genome Wide Association Study"@en; owl:deprecated true . a owl:NamedIndividual, ; ; , , ; "PMID:31852448"; "A biobank of healthy Han Chinese people in Taiwan, recruited between October 2002 and January 2004 by stratified three-stage probability cluster sampling through the registries of the non-aboriginal townships and city districts of Taiwan, whose DNA has served as population controls for genetic association studies, among them the Taiwan Super Control Study."; 3300; "Han Chinese cell and genome bank in Taiwan", "Han-Chinese Cell and Genome Bank in Taiwan", "HanBKT", "THCCGB", "Taiwan Han Chinese Cell and Genome Bank"; rdfs:label "Han Chinese Cell and Genome Bank in Taiwan"@en . _:49542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The Han-Chinese Cell and Genome Bank in Taiwan21 includes more than 3,300 healthy controls who were recruited via a stratified, 3-staged probability clustering sampling scheme through a registry of all the 329 non-aboriginal townships or city districts in Taiwan." . _:49552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31852448"; "Genome-wide association study of morbid obesity in Han Chinese."; "PMID:31852448", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6921553/fullTextXML"; rdfs:comment "The first stage involved 575 patients, and 1729 sex- and age-matched controls from the Taiwan Han Chinese Cell and Genome Bank." . _:49562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biobank of healthy Han Chinese people in Taiwan, recruited between October 2002 and January 2004 by stratified three-stage probability cluster sampling through the registries of the non-aboriginal townships and city districts of Taiwan, whose DNA has served as population controls for genetic association studies, among them the Taiwan Super Control Study."; "PMID:31852448", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4284402/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3300; "healthy Han Chinese controls recruited 2002-2004 (stated as a lower bound, 'more than 3,300')"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1087/MediaObjects/41588_2012_BFng1087_MOESM24_ESM.pdf"; rdfs:comment "The Han-Chinese Cell and Genome Bank in Taiwan21 includes more than 3,300 healthy controls who were recruited via a stratified, 3-staged probability clustering sampling scheme through a registry of all the 329 non-aboriginal townships or city districts in Taiwan." . _:49582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HanBKT"; . _:49592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "THCCGB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20896; , , ; ; "PMID:21908515"; "A hospital-based case–control study of breast cancer in Tianjin, China, whose cases were women with histopathologically diagnosed primary breast cancer recruited consecutively from the Department of Breast Surgery of Tianjin Cancer Institute and Hospital, Tianjin Medical University, and whose controls were women without evidence of cancer who attended health screening at the same hospital, frequency-matched to the cases on age; all participants were unrelated ethnic Han Chinese women who were permanent residents of urban Tianjin. Its study period was 2004 to 2008, and it is one of the participating studies of the Asia Breast Cancer Consortium."; 1532; 1583; 3115; "Tianjin", "Tianjin study"; rdfs:label "Tianjin Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20896 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:495a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20896; "breast cancer"; "https://link.springer.com/article/10.1007/s10549-008-9998-0"; rdfs:comment "Patients were all histopathologically diagnosed with primary breast cancer and were consecutively recruited from the Department of Breast Surgery of Tianjin Cancer Institute and Hospital, Tianjin Medical University, China, between December 2004 and August 2005." . _:495b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3221542/"; rdfs:comment "Briefly, the consortium included 20 114 Chinese women from eight studies conducted in the following locations: Shanghai, China [n= 10 097; SBCS Phase I (SBCS-I) (7,28) and Phase II (SBCS-II) (7), Shanghai Breast Cancer Survival Study (SBCSS)/Shanghai Endometrial Cancer Study (SECS, only SECS controls were included in the current study) (7)], Tianjin, China [n= 3095 (29)]" . _:495c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21908515"; "Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium."; "PMID:21908515", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3221542/"; rdfs:comment "TaqMan genotyping assay reagents were provided to the investigators of the Tianjin study (Tianjin Cancer Institute and Hospital), Nanjing study (Nanjing Medical University), Guangzhou study (Sun Yat-sen University) and MEC study (University of Southern California), who conducted genotyping assays at their own laboratories." . _:495d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of breast cancer in Tianjin, China, whose cases were women with histopathologically diagnosed primary breast cancer recruited consecutively from the Department of Breast Surgery of Tianjin Cancer Institute and Hospital, Tianjin Medical University, and whose controls were women without evidence of cancer who attended health screening at the same hospital, frequency-matched to the cases on age; all participants were unrelated ethnic Han Chinese women who were permanent residents of urban Tianjin. Its study period was 2004 to 2008, and it is one of the participating studies of the Asia Breast Cancer Consortium."; "PMID:18629629", "PMID:21908515"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:495e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1532; "women of the Tianjin study (breast cancer cases and hospital controls) in the Asia Breast Cancer Consortium's 2010 GWAS replication"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2891809/"; rdfs:comment "Tianjin (Chinese) 1,532 51.7±11.4 1,583 51.9±10.5" . _:495f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1583; "women of the Tianjin study (breast cancer cases and hospital controls) in the Asia Breast Cancer Consortium's 2010 GWAS replication"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2891809/"; rdfs:comment "Tianjin (Chinese) 1,532 51.7±11.4 1,583 51.9±10.5" . _:49602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3115; "women of the Tianjin study (breast cancer cases and hospital controls) in the Asia Breast Cancer Consortium's 2010 GWAS replication"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2891809/"; rdfs:comment "Briefly, the consortium included 19,796 Chinese women from seven studies conducted in Shanghai [6], [9] (three studies, n = 10,497), Tianjin [10] (n = 3,115)" . _:49612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Tianjin"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20905; , , ; "PGS000718", "PMID:33012170"; "A prospective, single-blinded, multicentre randomised trial, run at centres in Switzerland and Germany from 2003 to 2008, in which patients aged 60 years or over with symptomatic congestive heart failure, a heart-failure hospitalisation within the previous year and raised NT-proBNP were randomised to NT-proBNP-guided (intensified) or symptom-guided (standard) medical therapy, to compare the two strategies in patients aged 75 or over and aged 60 to 74, with reduced or preserved ejection fraction."; 622; "TIME-CHF", "Trial of Intensified Versus Standard Medical Therapy in Elderly Patients with Congestive Heart Failure", "Trial of Intensified versus Standard Medical Therapy in Elderly Patients with Congestive Heart Failure", "Trial of Intensified vs Standard Medical Therapy in Elderly Patients With Congestive Heart Failure"; ; rdfs:label "Trial of Intensified versus standard Medical therapy in Elderly patients with Congestive Heart Failure"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20905 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20905; "congestive heart failure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A16644310+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Therefore, the TIME-CHF study was set up (1) to evaluate the medical management of very old patients (> or = 75 years) with CHF compared with younger patients (60-74 years), (2) to compare an intensified with a standard treatment approach, and (3) to differentiate between systolic and diastolic dysfunction (ejection fraction 45%)." . _:49632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7738407/unicode"; rdfs:comment "TIME-CHF was a randomized controlled trial that took place at 15 centers in Switzerland and Germany from January 2003 to June 2008 that enrolled a total of 622 patients." . _:49642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000718"; "Polygenic Score for β-Blocker Survival Benefit in European Ancestry Patients With Reduced Ejection Fraction Heart Failure."; "PMID:33012170" . _:49652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33012170"; "Polygenic Score for β-Blocker Survival Benefit in European Ancestry Patients With Reduced Ejection Fraction Heart Failure."; "PMID:33012170", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7738407/unicode"; rdfs:comment "TIME-CHF was a randomized controlled trial that took place at 15 centers in Switzerland and Germany from January 2003 to June 2008 that enrolled a total of 622 patients." . _:49662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, single-blinded, multicentre randomised trial, run at centres in Switzerland and Germany from 2003 to 2008, in which patients aged 60 years or over with symptomatic congestive heart failure, a heart-failure hospitalisation within the previous year and raised NT-proBNP were randomised to NT-proBNP-guided (intensified) or symptom-guided (standard) medical therapy, to compare the two strategies in patients aged 75 or over and aged 60 to 74, with reduced or preserved ejection fraction."; "PMID:16644310", "PMID:33012170"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 622; "TIME-CHF enrolled congestive-heart-failure patients (2008)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7738407/"; rdfs:comment "TIME-CHF was a randomized controlled trial that took place at 15 centers in Switzerland and Germany from January 2003 to June 2008 that enrolled a total of 622 patients." . _:49682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TIME-CHF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20913; , ; ; "PGS000740", "PMID:28604730"; "A hospital-based, case-only study of the molecular epidemiology of lung cancer survival at the H. Lee Moffitt Cancer Center in Tampa, Florida, United States, whose participants are lung cancer patients recruited from Moffitt's Thoracic Oncology Clinic between April 2006 and August 2010 under the centre's Total Cancer Care protocol, which collects self-reported, medical record and cancer registry data and blood samples."; 651; 651; "TLC", "Total Lung Cancer (TLC) Study", "Total Lung Cancer: Molecular Epidemiology of Lung Cancer Survival"; ; rdfs:label "Total Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20913 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20913; "lung cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC3810840"; rdfs:comment "The study included 651 lung cancer patients recruited for Moffitt Cancer Center’s Total Cancer Care™ protocol between April 2006 and August 2010." . _:496a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "TLC Total Lung Cancer: Molecular Epidemiology of Lung Cancer Survival Moffitt Cancer Center, Tampa, FL M.B. Schabath USA case only 2012--present" . _:496b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000740"; "Assessing Lung Cancer Absolute Risk Trajectory Based on a Polygenic Risk Model."; "PMID:33472890" . _:496c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28604730"; "Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes."; "PMID:28604730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3892/MediaObjects/41588_2017_BFng3892_MOESM1_ESM.pdf"; rdfs:comment "Molecular Epidemiology of Lung Cancer Survival: The Total Lung Cancer (TLC) Study is a hospital-based study that included 458 lung cancer patients recruited for Moffitt Cancer Center’s Total Cancer Care™ protocol between April 2006 and August 2010." . _:496d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based, case-only study of the molecular epidemiology of lung cancer survival at the H. Lee Moffitt Cancer Center in Tampa, Florida, United States, whose participants are lung cancer patients recruited from Moffitt's Thoracic Oncology Clinic between April 2006 and August 2010 under the centre's Total Cancer Care protocol, which collects self-reported, medical record and cancer registry data and blood samples."; "PMID:23839018", "PMID:28604730"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:496e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 651; "lung cancer patients recruited to the TLC survival study through Total Cancer Care, April 2006 to August 2010"; "https://europepmc.org/api/getPdf?pmcid=PMC3810840"; rdfs:comment "The study included 651 lung cancer patients recruited for Moffitt Cancer Center’s Total Cancer Care™ protocol between April 2006 and August 2010." . _:496f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 651; "lung cancer patients recruited to the TLC survival study through Total Cancer Care, April 2006 to August 2010"; "https://europepmc.org/api/getPdf?pmcid=PMC3810840"; rdfs:comment "The study included 651 lung cancer patients recruited for Moffitt Cancer Center’s Total Cancer Care™ protocol between April 2006 and August 2010." . _:49702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TLC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20922; , , ; ; "PMID:23143601"; "A case–control study of lung cancer in Tianjin, China, whose cases were patients with newly diagnosed, histologically confirmed primary non-small cell lung cancer at Tianjin Medical University Cancer Hospital, excluding those with a previous cancer or earlier radiotherapy or chemotherapy, and whose controls were people attending regular health check-ups in the same period who lived in the same or nearby neighbourhoods, frequency-matched to the cases on sex and age; all participants were ethnic Chinese. Its never-smoking women were genotyped genome-wide as one of the studies of the Female Lung Cancer Consortium in Asia."; 339; 237; "TLCS"; rdfs:label "Tianjin Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20922 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20922; "non-small cell lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The TLCS enrolled patients with newly diagnosed and histologically confirmed primary non- small cell lung cancer from Tianjin Medical University Cancer Hospital in Tianjin, China." . _:49722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The TLCS enrolled patients with newly diagnosed and histologically confirmed primary non- small cell lung cancer from Tianjin Medical University Cancer Hospital in Tianjin, China." . _:49732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23143601"; "Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia."; "PMID:23143601", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4169232/"; rdfs:comment "samples from CAMSCH, FLCS, GDS, SLCS, TLCS, and WLCS were genotyped on contract at Gene-Square Biotech, Inc. in Beijing using the Illumina 660W SNP microarray" . _:49742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case–control study of lung cancer in Tianjin, China, whose cases were patients with newly diagnosed, histologically confirmed primary non-small cell lung cancer at Tianjin Medical University Cancer Hospital, excluding those with a previous cancer or earlier radiotherapy or chemotherapy, and whose controls were people attending regular health check-ups in the same period who lived in the same or nearby neighbourhoods, frequency-matched to the cases on sex and age; all participants were ethnic Chinese. Its never-smoking women were genotyped genome-wide as one of the studies of the Female Lung Cancer Consortium in Asia."; "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 339; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "TLCS Mainland China 339 49 32 237 57.0( 9.7) 57.2(10.1) 57.1( 7.4) 57.2( 9.8) NA*" . _:49762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 237; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "TLCS Mainland China 339 49 32 237 57.0( 9.7) 57.2(10.1) 57.1( 7.4) 57.2( 9.8) NA*" . _:49772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20930, _:genid-371333f489424440b12a13b9d98ced822608-genid20932, _:genid-371333f489424440b12a13b9d98ced822608-genid20934; , ; "PMID:42488319"; "A community-based prospective study of a representative sample of residents of district 13 of Tehran, Iran, aged 3 years and over and selected by multistage stratified cluster random sampling, designed in 1997 and begun in 1999 as a cross-sectional survey of non-communicable disease risk factors; from 2002 it became a long-term longitudinal study, including a controlled community lifestyle intervention, with follow-up examinations about every three years."; 15005; "TLGS", "Tehran lipid and glucose study"; rdfs:label "Tehran Lipid and Glucose Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20930 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20932 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20934 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20930; "smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2656492/fullTextXML"; rdfs:comment "Interventional strategies were based on lifestyle modifications in diet, smoking and physical activity through face-to-face education, leaflets & brochures, school program alterations, training volunteers as health team and treating patients with NCD risk factors." . _:49792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20932; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2656492/fullTextXML"; rdfs:comment "Interventional strategies were based on lifestyle modifications in diet, smoking and physical activity through face-to-face education, leaflets & brochures, school program alterations, training volunteers as health team and treating patients with NCD risk factors." . _:497a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20934; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2656492/fullTextXML"; rdfs:comment "Interventional strategies were based on lifestyle modifications in diet, smoking and physical activity through face-to-face education, leaflets & brochures, school program alterations, training volunteers as health team and treating patients with NCD risk factors." . _:497b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2656492/fullTextXML"; rdfs:comment "The Tehran Lipid and Glucose Study (TLGS) is a large scale community based prospective study performed on a representative sample of residents of district-13 of Tehran, capital of Iran." . _:497c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42488319"; "Application of competing risks models in cardiovascular mortality research: findings from the Tehran lipid and glucose study."; "PMID:42488319", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42488319+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aimed to provide more accurate estimates of associations between risk factors and CVD mortality by applying competing risk models within the Tehran Lipid and Glucose Study cohort." . _:497d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective study of a representative sample of residents of district 13 of Tehran, Iran, aged 3 years and over and selected by multistage stratified cluster random sampling, designed in 1997 and begun in 1999 as a cross-sectional survey of non-communicable disease risk factors; from 2002 it became a long-term longitudinal study, including a controlled community lifestyle intervention, with follow-up examinations about every three years."; "PMID:19166627", "PMID:30584442"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:497e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15005; "TLGS baseline study population in the cohort profile"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6289309/fullTextXML"; rdfs:comment "The study population comprised 15005 Tehranian children, adolescents, and adults, 44% males and 56% females." . _:497f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TLGS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20941; , ; "PMID:18572229"; "A population-based cohort study of respiratory health that began in 1968 with a survey of the children born in 1961 who were attending school in Tasmania, Australia, and has followed these probands with repeated surveys and lung function testing from age 7 into their sixth decade, with their parents also surveyed."; 8583; "TAHS", "TLHS", "Tasmanian Longitudinal Health STUDY"; rdfs:label "Tasmanian Longitudinal Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20941 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20941; "respiratory disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19187325+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Tasmanian Longitudinal Health Study (TAHS) is a population-based cohort (n=8583) study of respiratory disease." . _:49812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12926821/fullTextXML"; rdfs:comment "Briefly, the baseline survey was carried out to assess the respiratory illnesses of 8583 offspring born in 1961, who were attending schools in Tasmania, Australia, in 1968." . _:49822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18572229"; "Childhood eczema and asthma incidence and persistence: a cohort study from childhood to middle age."; "PMID:18572229", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18572229+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were gathered from the 1968, 1974, and 2004 surveys of the Tasmanian Longitudinal Health Study." . _:49832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of respiratory health that began in 1968 with a survey of the children born in 1961 who were attending school in Tasmania, Australia, and has followed these probands with repeated surveys and lung function testing from age 7 into their sixth decade, with their parents also surveyed."; "PMID:19187325", "PMID:41736738", "PMID:42480573"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8583; "children born in 1961 and attending school in Tasmania, surveyed at baseline in 1968 (the probands)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12926821/fullTextXML"; rdfs:comment "Briefly, the baseline survey was carried out to assess the respiratory illnesses of 8583 offspring born in 1961, who were attending schools in Tasmania, Australia, in 1968." . _:49852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TAHS"; . _:49862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TLHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20949; , , , , , , , , , , , , , , , , , , , ; , , , , , , , , , , , ; ; "PGS000344", "PMID:21844186"; "An international consortium of case-control, cohort, case-only and tumour-collection studies of breast cancer in the United States, Australia and Europe that pools women with triple-negative (estrogen receptor-, progesterone receptor- and HER2-negative) breast cancer and controls to study inherited susceptibility to triple-negative breast cancer, and that contributes its case series to the Breast Cancer Association Consortium."; 2980; 4978; 7958; "TNBCC", "Triple Negative Breast Cancer Consortium Study", "Triple-negative Breast Cancer Consortium"; ; rdfs:label "Triple Negative Breast Cancer Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20949 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20949; "triple negative breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple negative breast cancer and 4,978 healthy controls." . _:49882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:498a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:498b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:498c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:498d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:498e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:498f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "Data from an ongoing GWAS of TN breast cancer, including cases and controls from several of the studies described above, and the TN cases from the HEBCS GWAS along with population control data (n=273) were also included (24)." . _:49952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2563/MediaObjects/41588_2013_BFng2563_MOESM7_ESM.pdf"; rdfs:comment "DEMOKRITOS, NBHS_TN, OSU and RPCI were additional non-BCAC studies included as part of the TNBCC." . _:49982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:49992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:499a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:499b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These included cases from the KBCP and POSH cohort studies, cases and controls from the MCCS cohort study, and cases and controls from established population-based breast cancer case-control studies (BBCS, GENICA, MARIE, SEARCH), hospital or clinic based case-control studies (ABCS, BIGGS, LMBC, MCBCS, OBCS, SBCS, and RPCI), case-only studies with geographically matched controls (BBCC, KARBAC, SKKDKFZS, FCCC), and unselected cases identified in tumor collections (DFCI, ABCTB, DEMOKRITOS)." . _:499c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "These subjects were ascertained by 22 studies in 10 different countries: United States, Australia, Great Britain, Finland, Germany, Netherlands, Greece, Ireland, and Sweden." . _:499d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:499e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21844186"; "Common breast cancer susceptibility loci are associated with triple-negative breast cancer."; "PMID:21844186", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "Here we report on the first TNBCC study of genetic susceptibility to TN breast cancer in which associations between 22 common breast cancer susceptibility loci and risk among 2,980 cases and 4,978 controls were evaluated." . _:499f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of case-control, cohort, case-only and tumour-collection studies of breast cancer in the United States, Australia and Europe that pools women with triple-negative (estrogen receptor-, progesterone receptor- and HER2-negative) breast cancer and controls to study inherited susceptibility to triple-negative breast cancer, and that contributes its case series to the Breast Cancer Association Consortium."; "PMID:21844186", "PMID:29058716"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2980; "cases and controls in the consortium's first pooled analysis (2011), including 3,593 controls from public GWAS data sets"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple negative breast cancer and 4,978 healthy controls." . _:49a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4978; "cases and controls in the consortium's first pooled analysis (2011), including 3,593 controls from public GWAS data sets"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple negative breast cancer and 4,978 healthy controls." . _:49a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7958; "cases and controls in the consortium's first pooled analysis (2011), including 3,593 controls from public GWAS data sets"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3327299/"; rdfs:comment "Total 25 21 - 93 (52) 18 - 92 (56) 1971 - 2010 2707 1385 4092 273 3593 3866 2980 4978 7958" . _:49a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNBCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20979; , ; "PMID:40061840"; "A prospective population-based cohort of community-dwelling men and women aged 50 to 79, selected at random in equal numbers by sex from the electoral roll of southern Tasmania, Australia, and enrolled between March 2002 and September 2004, with follow-up assessments, to identify environmental, genetic and biochemical factors in the development and progression of osteoarthritis at multiple sites."; 1099; "TASOAC", "TOAC", "TasOAC", "Tasmania Older Adult Cohort", "Tasmanian Older Adult Cohort", "Tasmanian older adult cohort study"; rdfs:label "Tasmanian Older Adult Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20979 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20979; "osteoarthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC552310/fullTextXML"; rdfs:comment "Tasmanian Older Adult Cohort Study (TASOAC), an ongoing prospective population-based study aimed at identifying the environmental, genetic, and biochemical factors associated with the development and progression of OA at multiple sites (hand, knee, hip, and spine), which commenced in 2002." . _:49a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10571432/fullTextXML"; rdfs:comment "The Tasmanian Older Adult Cohort (TASOAC) is a prospective study in southern Tasmania, Australia [19]." . _:49a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40061840"; "Predictive validity of consensus-based MRI definition of osteoarthritis plus radiographic osteoarthritis for the progression of knee osteoarthritis: A longitudinal cohort study."; "PMID:40061840", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40061840+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data were from the Tasmanian Older Adult Cohort." . _:49a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of community-dwelling men and women aged 50 to 79, selected at random in equal numbers by sex from the electoral roll of southern Tasmania, Australia, and enrolled between March 2002 and September 2004, with follow-up assessments, to identify environmental, genetic and biochemical factors in the development and progression of osteoarthritis at multiple sites."; "PMID:15720725", "PMID:37833699", "PMID:40061840"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1099; "community-dwelling older adults randomly chosen from the southern Tasmanian electoral roll and enrolled at baseline (2002-2004)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11889593/fullTextXML"; rdfs:comment "Between March 2002 and September 2004, 1099 individuals out of 1904 older adults were randomly chosen from the electoral roll in Southern Tasmania (population 229,000) and enrolled in this cohort, resulting in a response rate of 57 %." . _:49a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TASOAC"; . _:49aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOAC"; . _:49ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TasOAC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. Toronto Ovarian Cancer Study is the name the Ovarian Cancer Association Consortium's GWAS supplement of PMID:23535730 gives its study TOR, which the consortium's other tables name the Familial Ovarian Tumour Study (PMID:20852632, PMID:21639959). Replaced by COHO:0001738 (Familial Ovarian Tumor Study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete Toronto Ovarian Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20988; , ; ; "PGS000037", "PMID:29273806"; "A family study of asthma conducted from 1998 onwards by the Research Institute of Medical Genetics and Siberian State Medical University in Tomsk, Russia, which recruited nuclear families and extended pedigrees of Russian or mixed East Slavonic origin through probands with atopic bronchial asthma at hospitals in Tomsk and Irkutsk, with probands and relatives clinically examined for asthma and atopy."; 681; "TOMSK"; ; rdfs:label "Tomsk Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20988 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20988; "atopic bronchial asthma"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "Both nuclear families and extended pedigrees were recruited through atopic bronchial asthmatic probands." . _:49ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "TOMSK: Is a population‐based family study conducted by the Research Institute of Medical Genetics and Siberian State Medical University (Tomsk, Russia) from 1998 onwards.88,89 Both nuclear families and extended pedigrees were recruited through atopic bronchial asthmatic probands." . _:49ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:49af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "TOMSK: Is a population‐based family study conducted by the Research Institute of Medical Genetics and Siberian State Medical University (Tomsk, Russia) from 1998 onwards.88,89 Both nuclear families and extended pedigrees were recruited through atopic bronchial asthmatic probands." . _:49b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A family study of asthma conducted from 1998 onwards by the Research Institute of Medical Genetics and Siberian State Medical University in Tomsk, Russia, which recruited nuclear families and extended pedigrees of Russian or mixed East Slavonic origin through probands with atopic bronchial asthma at hospitals in Tomsk and Irkutsk, with probands and relatives clinically examined for asthma and atopy."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 681; "family-study members retained in the GABRIEL/TAGC GWAS after quality control (analysed subset)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "After QC a total of 681 subjects were retained in the GWAS analyses." . _:49b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOMSK"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-25. A misspelt duplicate of the Tohoku Medical Megabank Project (COHO:0000533); found when the IHCC Cohort Atlas's entry for the Tohoku Medical Megabank Organization was checked. Replaced by COHO:0000533 (Tohoku Medical Megabank Project), which now carries this term's names. Found by the IHCC Cohort Atlas review, 2026-09-25."@en; rdfs:label "obsolete The Tonhoku Medical Megabank Organisations"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid20996, _:genid-371333f489424440b12a13b9d98ced822608-genid20998; , ; , ; "PGS000823", "PMID:23150908"; "An ongoing study of schizophrenia and bipolar disorder based in Oslo, Norway, that since 2003 has recruited patients from in-patient and out-patient psychiatric units, diagnosed by structured clinical interview, together with healthy controls randomly selected from the population records of the same catchment areas."; "TOP", "TOP Study", "Thematically Organized Psychoses Research Study", "Thematically Organized Psychoses Study", "Thematically Organized Psychosis Study"; ; rdfs:label "Thematically Organized Psychosis Research Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid20996 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid20998 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20996; "bipolar disorder"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.943/MediaObjects/41588_2011_BFng943_MOESM29_ESM.pdf"; rdfs:comment "Subjects participated in a large ongoing study on schizophrenia and BD and were recruited from out-patient and in-patient psychiatric units in Norway, from May, 2003 through July, 2008." . _:49b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid20998; "schizophrenia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.943/MediaObjects/41588_2011_BFng943_MOESM29_ESM.pdf"; rdfs:comment "Subjects participated in a large ongoing study on schizophrenia and BD and were recruited from out-patient and in-patient psychiatric units in Norway, from May, 2003 through July, 2008." . _:49b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.943/MediaObjects/41588_2011_BFng943_MOESM29_ESM.pdf"; rdfs:comment "Subjects participated in a large ongoing study on schizophrenia and BD and were recruited from out-patient and in-patient psychiatric units in Norway, from May, 2003 through July, 2008." . _:49b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000823"; "The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study."; "PMID:29555425" . _:49b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23150908"; "Variant of TREM2 associated with the risk of Alzheimer's disease."; "PMID:23150908", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3677583/unicode"; rdfs:comment "Controls were recruited as a part of the Thematically Organized Psychosis study (enrolling 700 patients and 291 controls) and two Norwegian studies of attention deficit–hyperactivity disorder (enrolling 626 patients and 898 controls)." . _:49b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing study of schizophrenia and bipolar disorder based in Oslo, Norway, that since 2003 has recruited patients from in-patient and out-patient psychiatric units, diagnosed by structured clinical interview, together with healthy controls randomly selected from the population records of the same catchment areas."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.943/MediaObjects/41588_2011_BFng943_MOESM29_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOP"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. TOR is the PGS Catalog's id (PGS000030 evaluation, sample set PSS000041) for the PRACTICAL/OncoArray prostate cancer study that the Schumacher 2018 supplement lists only as 'Toronto': men undergoing prostate biopsy at the Princess Margaret Cancer Centre (University Health Network), Toronto, Canada, cases with positive biopsies and controls with negative biopsies, described as 'Prospective hospital-based biopsy cohort' (41588_2018_142_MOESM1_ESM.pdf, Supplementary Table 1). Its only design paper (PMID:24568896, Eur Urol 2014) calls it 'a large prostate biopsy cohort (in Toronto, Canada)'. The sample has no name of its own beyond the city and institution, so, like HZ and Poland, it is not a cohort. No COHO term or review row names a Toronto prostate biopsy cohort (checked coho_names.tsv and catalog_cohorts_review.tsv for Toronto, Princess Margaret, UHN). Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University Health Network, Toronto, Canada"@en; owl:deprecated true . a owl:NamedIndividual, ; ; "TPB"; ; rdfs:label "Telethon Parkinsons Bank"@en . _:49ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TPB"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Trinity is the PGS Catalog's id for 'Trinity College Dublin', a university. The Catalog lists the id in its cohort table but attaches it to no score or sample set, so there is no sample for it to denote, and nothing found by name is a study sample. It is an institution name, not a cohort. Samples from Trinity College Dublin that do have names are already covered elsewhere: the Trinity Student Study (COHO:0000627, which has its own PGS id TSS), the TCD/NUIG imaging sample (review row NUIG-TCD, judged not a cohort) and the MRC Genetic Resource for Alzheimer's disease site at Trinity College Dublin used by GERAD (COHO:0000646). None of these can be tied to the id Trinity, so it should not become a synonym of any of them. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Trinity College Dublin"@en; owl:deprecated true . a owl:NamedIndividual, ; , ; "PGS005096", "PMID:39483246"; "A collection of medico-legal autopsies performed at the Department of Forensic Medicine of the University of Tampere, Finland, on unselected individuals from Tampere and the surrounding regions who died out of hospital from any cause, used to study coronary atherosclerosis, brain pathology such as Lewy-related pathology, and other post-mortem tissue, with risk-factor data gathered by interviewing relatives of the deceased."; 660; "TSDS"; ; rdfs:label "Tampere Sudden Death Study"@en . _:49bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11713395/fullTextXML"; rdfs:comment "We performed immunohistochemical staining with the 5G4 antibody against alpha‐synuclein on brain tissue samples from the Tampere Sudden Death Study – a collection of forensic autopsies on individuals that lived outside hospital institutions in Tampere and the surrounding regions, Finland." . _:49bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005096"; "Genetic risk score for coronary artery calcification and its predictive ability for coronary artery disease."; "PMID:39483246" . _:49bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39483246"; "Genetic risk score for coronary artery calcification and its predictive ability for coronary artery disease."; "PMID:39483246", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11525111/fullTextXML"; rdfs:comment "The Tampere Sudden Death Study (TSDS) consists of cross-sectional population autopsy samples of deaths occurring out of hospital for any reason." . _:49be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of medico-legal autopsies performed at the Department of Forensic Medicine of the University of Tampere, Finland, on unselected individuals from Tampere and the surrounding regions who died out of hospital from any cause, used to study coronary atherosclerosis, brain pathology such as Lewy-related pathology, and other post-mortem tissue, with risk-factor data gathered by interviewing relatives of the deceased."; "PMID:31437200", "PMID:39483246", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11713395/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 660; "TSDS autopsy samples with genetic data and coronary measurements in 2024"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11525111/fullTextXML"; rdfs:comment "This study involved 660 cases who had both genetic data and coronary measurements available." . _:49c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TSDS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. The Tennessee Valley Healthcare System is a Veterans Affairs health-care system, an institution; no score in the PGS Catalog uses the id, and papers name it only as the setting of unrelated clinical studies. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Tennessee Valley Healthcare System"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21012; , ; "PGS005096", "PMID:39483246"; "A study of atherosclerosis at Tampere University Hospital, Finland, that collected arterial tissue from patients undergoing open vascular surgery (carotid or femoral endarterectomy, or aortic bypass, for occlusive atherosclerosis), with internal thoracic artery samples from coronary bypass patients as controls, and, in a second arm collected in 2008, whole blood and monocyte samples from patients with angiographically verified coronary artery disease and angiographically normal controls drawn from the patients given an exercise test at the hospital, for gene-expression and genetic studies."; "TVS"; ; rdfs:label "Tampere Vascular Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21012 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21012; "atherosclerosis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5270243/fullTextXML"; rdfs:comment "The atherosclerotic vascular samples used in this study were obtained from patients subjected to carotid (N = 29) and femoral (N = 24) endarterectomy or an abdominal aortic bypass (N = 15) procedure (i.e., aortobifemoral bypass) due to occlusive atherosclerosis." . _:49c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3324479/fullTextXML"; rdfs:comment "The samples were taken from patients subjected to open vascular surgical procedures at the Division of Vascular Surgery, Tampere University Hospital." . _:49c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005096"; "Genetic risk score for coronary artery calcification and its predictive ability for coronary artery disease."; "PMID:39483246" . _:49c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39483246"; "Genetic risk score for coronary artery calcification and its predictive ability for coronary artery disease."; "PMID:39483246", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11525111/fullTextXML"; rdfs:comment "We investigated the association of CAC GRSs with CAD and coronary calcification among the participants in the Ludwigshafen Risk and Cardiovascular Health study (LURIC) (n = 2742), the Tampere Vascular Study (TVS) (n = 133), and the Tampere Sudden Death Study (TSDS) (n = 660) using summary data from the largest multi-ancestry GWAS meta-analysis of CAC to date." . _:49c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of atherosclerosis at Tampere University Hospital, Finland, that collected arterial tissue from patients undergoing open vascular surgery (carotid or femoral endarterectomy, or aortic bypass, for occlusive atherosclerosis), with internal thoracic artery samples from coronary bypass patients as controls, and, in a second arm collected in 2008, whole blood and monocyte samples from patients with angiographically verified coronary artery disease and angiographically normal controls drawn from the patients given an exercise test at the hospital, for gene-expression and genetic studies."; "PMID:22509262", "PMID:28128285", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6180013/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TVS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21019; , , ; ; "PGS000004", "PMID:27931260"; "A hospital-based case-control study of breast cancer in Taiwan, conducted by the Institute of Biomedical Sciences, Academia Sinica, with the Tri-Service General Hospital in Taipei and supported by the Taiwan Biobank project, that recruited incident breast cancer cases diagnosed and treated at two major teaching hospitals and, as controls, women randomly selected from those attending health examinations at the same hospitals."; 563; 281; "BCST", "Breast Cancer Study in Taiwan", "Breast Cancer Study of Taiwan", "SwBCS", "TWBCS"; ; rdfs:label "Taiwanese Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21019 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21019; "breast cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "TWBCS Taiwanese Breast Cancer Study 43 Taiwan Incident cases diagnosed & treated at 2 major teaching hospitals in Taiwan between 2002-2005 Randomly selected women attending a health examination at same hospitals between 2002-2005" . _:49c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf"; rdfs:comment "TWBCS Taiwanese Breast Cancer Study 43 Taiwan Incident cases diagnosed & treated at 2 major teaching hospitals in Taiwan between 2002-2005 Randomly selected women attending a health examination at same hospitals between 2002-2005" . _:49c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk."; "PMID:33022221" . _:49ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27931260"; "Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry."; "PMID:27931260", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5146840/fullTextXML"; rdfs:comment "The TWBCS was supported by the Taiwan Biobank project of the Institute of Biomedical Sciences, Academia Sinica, Taiwan." . _:49cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in Taiwan, conducted by the Institute of Biomedical Sciences, Academia Sinica, with the Tri-Service General Hospital in Taipei and supported by the Taiwan Biobank project, that recruited incident breast cancer cases diagnosed and treated at two major teaching hospitals and, as controls, women randomly selected from those attending health examinations at the same hospitals."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.1049/MediaObjects/41588_2012_BFng1049_MOESM2_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3387216/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 563; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "TWBCS Taiwanese Breast Cancer Study157,158 Hospital-based case-control study Taiwan 281 563 0 0 256 551" . _:49cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 281; "cases and controls received for OncoArray genotyping in the 2017 breast cancer study, before QC"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature24284/MediaObjects/41586_2017_BFnature24284_MOESM1_ESM.pdf"; rdfs:comment "TWBCS Taiwanese Breast Cancer Study157,158 Hospital-based case-control study Taiwan 281 563 0 0 256 551" . _:49ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCST"; . _:49cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SwBCS"; . _:49d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TWBCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. UBNS ('University of Bergen Norway Study') is the PGS Catalog's id for OCAC's contributing study NOR: ovarian cancer cases and controls recruited in Norway in 2001–2010 at Haukeland University Hospital, Bergen. OCAC papers name it only by its institutions: 'The University of Bergen, Haukeland University Hospital, Norway study (NOR)' (PMID:29029385, PMC5630285, funding statement). No design paper or name of its own was found (Europe PMC and web searches for an OCAC NOR study description; the OCAC website did not respond). Like HZ and Poland, it is a site sample labelled by institution, so it is not a cohort. No COHO term matches (coho_names.tsv searched for Bergen, Haukeland and Norw*; the Hordaland Health Study COHO:0001351 and GenKOLS COHO:0001009 are other Bergen samples and unrelated). Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University of Bergen Norway Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21030; , ; "PMID:25420145"; "A collection of patients with cervical artery dissection at University Hospital, Salt Lake City, Utah, United States, one of the centres collaborating with the CADISP consortium that recruited patients of European origin, applying the inclusion criteria of the CADISP study, for the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection."; 26; "UCADC", "Utah cervical artery dissection collection"; rdfs:label "Utah Cervical Artery Dissection Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21030 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21030; "cervical artery dissection"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "To increase the sample size for genetic analyses, an independent sample of 501 CeAD patients of European origin was recruited between 2008 and 2010, in some CADISP centers and additional 12 centers in 7 European countries and the United States (Supplementary Fig. 2), applying the same inclusion criteria as for the CADISP study (Supplementary Fig. 1)." . _:49d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "CADISP-2: recruiting centers collaborating with the CADISP consortium for the genetics project, i.e. France, Nantes, Paris; Germany, Münster; Italy, Milan; Netherlands, Rotterdam; Spain, Barcelona; Switzerland, Lausanne; UK, London; USA, Salt Lake City - UT, Charlottesville – VA" . _:49d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25420145"; "Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "The Utah cervical artery dissection collection is supported by Award Number UL1TR000105-05 from the National Center for Research Resources by the Public Health Services (University Hospital, Salt Lake City, Utah)." . _:49d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with cervical artery dissection at University Hospital, Salt Lake City, Utah, United States, one of the centres collaborating with the CADISP consortium that recruited patients of European origin, applying the inclusion criteria of the CADISP study, for the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 26; "Utah cervical artery dissection patients among the 451 CADISP-2 patients included in the 2015 CeAD GWAS (analysed subset), 2008-2010"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "N=451 CeAD patients included in the present study, -Belgium: N=20 -France: N=16 -Germany: N=198 -Italy: N=33 -Netherlands: N=16 -Spain: N=9 -Switzerland: N=46 -UK: N=19 -USA: N=94 (Utah, N=26; Virginia, N=68)" . _:49d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCADC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21037; , ; ; "PMID:35650188"; "A cohort of young Dutch adults recruited online through a project website launched in 2006, who reported their cannabis use and psychotic-like experiences in a web-based survey; to increase power for gene-environment interaction, a genotyped subset combines participants from the general population with participants selected from the top or bottom quintile of psychotic-like experience scores who were either cannabis non-users or heavy users."; 17698; "CannabisQuest", "UCC", "Utrecht cannabis cohort"; rdfs:label "Utrecht Cannabis Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21037 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21037; "cannabis use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10106286/fullTextXML"; rdfs:comment "This is compared with the cross-sectional Utrecht cannabis cohort, which is a cohort that has been enriched for PLE and heavy cannabis use; heavy cannabis use being a particularly strong risk factor for development of psychosis and PLE." . _:49d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Ftp.2016.36/MediaObjects/41398_2016_BFtp201636_MOESM267_ESM.doc"; rdfs:comment "Utrecht: Utrecht Cannabis Cohort (CannabisQuest) –The Netherlands" . _:49d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35650188"; "Childhood maltreatment mediates the effect of the genetic background on psychosis risk in young adults."; "PMID:35650188", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9160238/fullTextXML"; rdfs:comment "The relationship between schizophrenia polygenetic risk, CM, and psychotic-like experiences (PLE) was investigated in participants from the Utrecht Cannabis Cohort (N = 1262) and replicated in the independent IMAGEN cohort (N = 1740)." . _:49da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of young Dutch adults recruited online through a project website launched in 2006, who reported their cannabis use and psychotic-like experiences in a web-based survey; to increase power for gene-environment interaction, a genotyped subset combines participants from the general population with participants selected from the top or bottom quintile of psychotic-like experience scores who were either cannabis non-users or heavy users."; "PMID:21592732", "PMID:35650188", "PMID:37310336", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Ftp.2016.36/MediaObjects/41398_2016_BFtp201636_MOESM267_ESM.doc"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17698; "young Dutch adults who completed the cohort's online assessment (CannabisQuest), of whom 1259 were then genotyped"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Ftp.2016.36/MediaObjects/41398_2016_BFtp201636_MOESM267_ESM.doc"; rdfs:comment "From the online data (N = 17,698), 1259 participants were included for subsequent genetic assessment in two waves." . _:49dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. UCC-SMART (Utrecht Cardiovascular Cohort - Second Manifestations of ARTerial disease) is the SMART cohort under its current name (PMID:37845353). Replaced by COHO:0000170 (Second Manifestations of ARTerial disease study), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Utrecht Cardiovascular Cohort - Second Manifestations of ARTerial disease"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21044; , ; ; "PGS000082", "PMID:36826816"; "A population-based case-control study of epithelial ovarian cancer run by the University of California, Irvine, that recruited women in Southern California (Orange, San Diego and Imperial Counties), United States, and contributed to the Ovarian Cancer Association Consortium."; 636; 614; "UC Irvine Ovarian Cancer Study", "UC Irvine Ovarian Cancer Study, California", "UCI", "UCIOCS", "University of California Irvine Ovarian Cancer Study", "University of California Irvine Ovarian Study"; ; rdfs:label "University of California, Irvine Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21044 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21044; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "UCI (37) USA University California Irvine Ovarian Study 1993-2005 Population-based Interview 54.29 (13.17) 614 (49.1) 636 (50.9)" . _:49de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3650102/unicode"; rdfs:comment "UCI University of California Irvine Ovarian Study USA: Southern California (Orange and San-Diego, Imperial Counties) Population 275 90 (33%) 968 144 63 (44%) 456" . _:49df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:49e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36826816"; "Association of Frequent Aspirin Use With Ovarian Cancer Risk According to Genetic Susceptibility."; "PMID:36826816", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9958519/fullTextXML"; rdfs:comment "The University of California, Irvine Ovarian Cancer Study was funded by grants R01 CA58860 and R01 CA92044 from the NCI and grant LVS-39420 from the Lon V Smith Foundation." . _:49e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of epithelial ovarian cancer run by the University of California, Irvine, that recruited women in Southern California (Orange, San Diego and Imperial Counties), United States, and contributed to the Ovarian Cancer Association Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3650102/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 636; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "UCI (37) USA University California Irvine Ovarian Study 1993-2005 Population-based Interview 54.29 (13.17) 614 (49.1) 636 (50.9)" . _:49e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 614; "cases and controls included in the 2023 OCAC lifetime ovulatory years analysis"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC10165492/"; rdfs:comment "UCI (37) USA University California Irvine Ovarian Study 1993-2005 Population-based Interview 54.29 (13.17) 614 (49.1) 636 (50.9)" . _:49e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCI"; . _:49e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCIOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21054; , ; "PMID:31748521"; "A multicentre case-control study in the Netherlands, started in 2011 as a collaboration between the University of California Los Angeles and University Medical Center Utrecht with other Dutch mental health care institutes, that collects genetic and phenotypic information on patients with bipolar I disorder, their first-degree relatives and controls, recruited through clinicians, the Dutch bipolar disorder patients' association, pharmacies, advertisements and earlier research studies."; 1396; "DB Cohort", "DBC", "Dutch Bipolar (DB) Cohort", "Dutch Bipolar cohort", "UCLA_NL_BP"; rdfs:label "Dutch Bipolar Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21054 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21054; "bipolar disorder type I"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9542330/"; rdfs:comment "DBC investigates genetic and phenotypic information of patients with bipolar disorder type I (BD‐I), their first‐degree relatives, and controls." . _:49e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6868237/"; rdfs:comment "The DB Cohort study, started in 2011, is a multicenter case–control study in the Netherlands, investigating genetic and phenotypic information of patients with BD type I, first-degree relatives, and controls." . _:49e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31748521"; "The association between antibodies to neurotropic pathogens and bipolar disorder : A study in the Dutch Bipolar (DB) Cohort and meta-analysis."; "PMID:31748521", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6868237/"; rdfs:comment "We, therefore, analyzed the seroprevalence and titer levels of IgG antibodies against several herpesviruses and Toxoplasma gondii (T. gondii) in plasma of 760 patients with a bipolar disorder, 144 first-degree matched relatives and 132 controls of the Dutch Bipolar (DB) Cohort using ELISA." . _:49e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre case-control study in the Netherlands, started in 2011 as a collaboration between the University of California Los Angeles and University Medical Center Utrecht with other Dutch mental health care institutes, that collects genetic and phenotypic information on patients with bipolar I disorder, their first-degree relatives and controls, recruited through clinicians, the Dutch bipolar disorder patients' association, pharmacies, advertisements and earlier research studies."; "PMID:31748521", "PMID:34821429"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1396; "patients with bipolar I disorder in the cohort; its first-degree relatives and controls are not counted and no total is stated"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31449716+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the Dutch Bipolar Cohort, stages according to models A and B were assigned to all patients with bipolar-I-disorder (BD-I; N = 1396)." . _:49eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DBC"; . _:49ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCLA_NL_BP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21062; , ; ; "PGS000026", "PMID:19734902"; "A naturalistic, prospective cohort of people with Alzheimer's disease and their carers in London and the South East Region of the UK, run from University College London, recruited in 2002-2003 through community mental health teams, memory clinics, care homes, day hospitals and the voluntary sector to be representative of people with Alzheimer's disease in the community by sex, living setting and severity, and followed for up to 54 months to study the progression, characteristics and costs of the disease and the problems of carers."; 224; "LASER", "LASER-AD", "LASER-AD study", "London and South-East Region Alzheimer's Disease Study", "London and the South East Region AD project", "London and the South East Region Alzheimer's disease project", "UCL-LASER"; ; rdfs:label "London and the South East Region Alzheimer's Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21062 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21062; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24423220+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "An overview of the LASER-AD study: a longitudinal epidemiological study of people with Alzheimer's disease." . _:49ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4360590/fullTextXML"; rdfs:comment "We calculated National Health Service (NHS) and personal social services (PSS) costs associated with different levels of agitation using data from a naturalistic prospective cohort study of people with AD, covering the London and the South East Region of the UK (LASER-AD study)." . _:49ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000026"; "Polygenic risk and hazard scores for Alzheimer's disease prediction."; "PMID:30911569" . _:49f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19734902"; "Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease."; "PMID:19734902", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "LASER-AD was funded by Lundbeck SA." . _:49f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A naturalistic, prospective cohort of people with Alzheimer's disease and their carers in London and the South East Region of the UK, run from University College London, recruited in 2002-2003 through community mental health teams, memory clinics, care homes, day hospitals and the voluntary sector to be representative of people with Alzheimer's disease in the community by sex, living setting and severity, and followed for up to 54 months to study the progression, characteristics and costs of the disease and the problems of carers."; "PMID:24423220", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.440/MediaObjects/41588_2009_BFng440_MOESM9_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4360590/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 224; "people with Alzheimer's disease recruited July 2002 to January 2003 (their carers were also interviewed but are not counted), 2002-2003"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4360590/fullTextXML"; rdfs:comment "Two hundred and twenty-four people were recruited between July 2002 and January 2003 and followed up to 54 months." . _:49f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LASER"; . _:49f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LASER-AD"; . _:49f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCL-LASER"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21072; , ; ; "PGS000026", "PMID:19734902"; "A collection of patients recruited by the MRC Prion Unit and the Department of Neurodegenerative Disease at University College London, UK, with support from the UCLH/UCL Biomedical Centre, from which patients with Alzheimer's disease were contributed as cases to the GERAD genome-wide association studies of Alzheimer's disease."; 278; "MRC Prion Unit/University College London Department of Neurodegenerative Disease collection", "UCL-PRION"; ; rdfs:label "MRC Prion Unit/UCL Department of Neurodegenerative Disease collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21072 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21072; "Alzheimer's disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.440/MediaObjects/41588_2009_BFng440_MOESM9_ESM.pdf"; rdfs:comment "TOTAL MRC § ART WASHU || UCL: PRION UCL: LASER NIMH BONN MAYO ¶ 1958BC CORIELL KORA F4 HNR ALS Geographical Region UK/Ire UK USA UK UK USA Germany USA UK USA Germany Germany UK/USA Illumina Chip 610 610 610 610 610 610 610 300 550 550 550 550 300 AD Cases n, total 4957 1221 1223 503 278 53 155 680 844" . _:49f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK" . _:49f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000026"; "Polygenic risk and hazard scores for Alzheimer's disease prediction."; "PMID:30911569" . _:49f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19734902"; "Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease."; "PMID:19734902", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; rdfs:comment "Patient recruitment for the MRC Prion Unit/UCL Department of Neurodegenerative Disease collection was supported by the UCLH/UCL Biomedical Centre." . _:49fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients recruited by the MRC Prion Unit and the Department of Neurodegenerative Disease at University College London, UK, with support from the UCLH/UCL Biomedical Centre, from which patients with Alzheimer's disease were contributed as cases to the GERAD genome-wide association studies of Alzheimer's disease."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.440/MediaObjects/41588_2009_BFng440_MOESM9_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2845877/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:49fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 278; "Alzheimer's disease cases the collection contributed to the GERAD stage 1 GWAS (211 passed QC); an analysed subset, as no source states the size of the whole collection (2009)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.440/MediaObjects/41588_2009_BFng440_MOESM9_ESM.pdf"; rdfs:comment "TOTAL MRC § ART WASHU || UCL: PRION UCL: LASER NIMH BONN MAYO ¶ 1958BC CORIELL KORA F4 HNR ALS Geographical Region UK/Ire UK USA UK UK USA Germany USA UK USA Germany Germany UK/USA Illumina Chip 610 610 610 610 610 610 610 300 550 550 550 550 300 AD Cases n, total 4957 1221 1223 503 278 53 155 680 844" . _:49fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCL-PRION"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21080; , ; ; "PGS005200", "PMID:40691366"; "A case set of patients with atrial fibrillation, drawn from the roughly 1,000 patients who came to the University of California San Francisco electrophysiology laboratory for electrophysiology procedures and are held within the UCSF Cardiovascular Research Institute Resource in Arteriosclerosis and Metabolic Disease, San Francisco, United States. Participants were densely phenotyped for electrophysiological characteristics, by interview and review of medical records, with biospecimens collected from intra- and extra-cardiac chambers, for genetic studies of atrial fibrillation; its early-onset cases were whole-genome sequenced in the NHLBI TOPMed programme."; 113; "The University of California San Francisco Atrial Fibrillation Study", "UCS-AF", "UCSF Atrial Fibrillation Study", "UCSF-AF"; ; rdfs:label "University of California San Francisco Atrial Fibrillation Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21080 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:49fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21080; "atrial fibrillation"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001933.v2.p1"; rdfs:comment "A subset of 113 participants with early-onset atrial fibrillation underwent WGS as a part of the TOPMed Program." . _:49fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001933.v2.p1"; rdfs:comment "The University of California San Francisco (UCSF) Cardiovascular Research Institute (CVRI) Resource in Arteriosclerosis and Metabolic Disease is an ongoing multi-ethnic study of adults ≥ 18 years of age which was started in 1989 and now includes 28,000 participants recruited from the UCSF medical system." . _:49ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005200"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:4a002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "Broad Bayer UCSF-AF (AFR) The University of California San Francisco Atrial Fibrillation Study" . _:4a012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case set of patients with atrial fibrillation, drawn from the roughly 1,000 patients who came to the University of California San Francisco electrophysiology laboratory for electrophysiology procedures and are held within the UCSF Cardiovascular Research Institute Resource in Arteriosclerosis and Metabolic Disease, San Francisco, United States. Participants were densely phenotyped for electrophysiological characteristics, by interview and review of medical records, with biospecimens collected from intra- and extra-cardiac chambers, for genetic studies of atrial fibrillation; its early-onset cases were whole-genome sequenced in the NHLBI TOPMed programme."; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001933.v2.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 113; "consented early-onset AF subjects in the dbGaP/TOPMed case set"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001933.v2.p1"; rdfs:comment "Total number of consented subjects: 113" . _:4a032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCS-AF"; . _:4a042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCSF-AF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21089; , ; ; "PGS002269", "PMID:26691988"; "A clinic-based case-control collection for genetic studies of age-related macular degeneration, run by the Department of Ophthalmology of the University of California, San Diego, of white patients with age-related macular degeneration and controls aged 60 or over without drusen, enrolled at the Shiley Eye Center, University of California, San Diego, and the Moran Eye Center, University of Utah, examined by visual acuity, slit-lamp biomicroscopy, fundus photography and optical coherence tomography and graded by the Age-Related Eye Disease Study criteria."; 2049; 3482; "UCSD"; ; rdfs:label "UCSD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21089 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21089; "age-related macular degeneration"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4134685/unicode"; rdfs:comment "The remaining 1121 white study participants, including 744 patients with advanced AMD and 377 healthy controls, were enrolled at the Moran Eye Center at the University of Utah and the Shiley Eye Center at the University of California, San Diego." . _:4a062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4134685/unicode"; rdfs:comment "The remaining 1121 white study participants, including 744 patients with advanced AMD and 377 healthy controls, were enrolled at the Moran Eye Center at the University of Utah and the Shiley Eye Center at the University of California, San Diego." . _:4a072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002269"; "Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data."; "PMID:35149155" . _:4a082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26691988"; "A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants."; "PMID:26691988", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The UCSD study was supported by grants from NIH (grants EY014428, EY018660, P30EY022589), 863 Program (2014AA021604), and Research to Prevent Blindness." . _:4a092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case-control collection for genetic studies of age-related macular degeneration, run by the Department of Ophthalmology of the University of California, San Diego, of white patients with age-related macular degeneration and controls aged 60 or over without drusen, enrolled at the Shiley Eye Center, University of California, San Diego, and the Moran Eye Center, University of Utah, examined by visual acuity, slit-lamp biomicroscopy, fundus photography and optical coherence tomography and graded by the Age-Related Eye Disease Study criteria."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4134685/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2049; "unrelated advanced and intermediate AMD cases and controls of the study in the IAMDGC GWAS after quality control (2016)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "UCSD 72 1,040 172 149 2,049 3,482" . _:4a0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3482; "unrelated advanced and intermediate AMD cases and controls of the study in the IAMDGC GWAS after quality control (2016)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "UCSD 72 1,040 172 149 2,049 3,482" . _:4a0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UCSD"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. same cohort as review name E897. UDP ('Universita di Pisa') is the PGS Catalog's id for the CIMBA consortium's Pisa study of BRCA1/BRCA2 mutation carriers, which the Phelan 2017 ovarian cancer GWAS names only by its university (study code PBCS, 'Università di Pisa' in its Supplementary Table 1). The same CIMBA study appears in Barnes et al. 2020 (PMID:32665703) as 'Pisa Breast Cancer Study (PBCS)', run under the Azienda Ospedaliera Pisana ethics committee and funded by AIRC and the Tuscany Institute for Tumors ('PBCS: Italian Association of Cancer Research (AIRC) [IG 2013 N.14477] and Tuscany Institute for Tumors (ITT) grant 2014-2015-2016.', PMC7521995 supplementary files). The PGS Catalog gives that paper's sample the id PiBCS, which is review row E897 (placeholder COHO:0002256, 'Pisa Breast Cancer Study'). So UDP and PiBCS are two PGS ids for one study. Whoever curates E897 should add UDP as an acronym. 'Università di Pisa' is added as a synonym only because the GWAS's study-name column uses it; drop it if an institution name is unwanted. Do not add the acronym PBCS without an editor note: it is also the Polish Breast Cancer Study's (COHO:0000930). Replaced by COHO:0002256 (Pisa Breast Cancer Study), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Universita di Pisa"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21098; , ; ; "PGS000037", "PMID:29273806"; "A case-control study of asthma in the Volga-Ural region of Russia, in which patients with physician-diagnosed asthma and healthy controls matched on age and sex, of Russian, Tatar and Bashkir origin, were recruited at the Hospital of the Bashkir Medical State University and Ufa Municipal Hospital No. 21 between 1999 and 2007."; 358; 369; "UFA", "UFA region study"; ; rdfs:label "UFA Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21098 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21098; "bronchial asthma"; "https://link.springer.com/article/10.1134/S0026893311060057"; rdfs:comment "The study involved 358 unrelated patients with physician-diagnosed bronchial asthma and 369 disease-free control subjects of different ethnicity (Russians, Tatars, and Bashkirs)." . _:4a0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "Subjects are of different ethnic origins (Russians, Tatars and Bashkirs) from Volga‐Ural region of Russian Federation." . _:4a0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000037"; "Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study."; "PMID:24429243" . _:4a102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29273806"; "Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks."; "PMID:29273806", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-017-0014-7/MediaObjects/41588_2017_14_MOESM1_ESM.pdf"; rdfs:comment "UFA:Isapopulation‐basedcase‐controlstudyofasthmacasesandcontrolsmatchedonageandsex.Cases are unrelated patients with physician‐diagnosed asthma and controls disease‐free." . _:4a112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of asthma in the Volga-Ural region of Russia, in which patients with physician-diagnosed asthma and healthy controls matched on age and sex, of Russian, Tatar and Bashkir origin, were recruited at the Hospital of the Bashkir Medical State University and Ufa Municipal Hospital No. 21 between 1999 and 2007."; "PMID:20860503", "PMID:29273806"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 358; "patients with asthma and disease-free controls in the study's GWAS sample (before quality control), 2011 report"; "https://link.springer.com/article/10.1134/S0026893311060057"; rdfs:comment "The study involved 358 unrelated patients with physician-diagnosed bronchial asthma and 369 disease-free control subjects of different ethnicity (Russians, Tatars, and Bashkirs)." . _:4a132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 369; "patients with asthma and disease-free controls in the study's GWAS sample (before quality control), 2011 report"; "https://link.springer.com/article/10.1134/S0026893311060057"; rdfs:comment "The study involved 358 unrelated patients with physician-diagnosed bronchial asthma and 369 disease-free control subjects of different ethnicity (Russians, Tatars, and Bashkirs)." . _:4a142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UFA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21107; , ; "PGS000022", "PMID:29540798"; "A cross-sectional collection of serum and genomic DNA from people with type 1 diabetes, their first- and second-degree relatives, islet autoantibody-positive at-risk individuals and unaffected controls, recruited from the general population and from outpatient clinics at the University of Florida in Gainesville, Nemours Children's Hospital in Orlando and Emory University in Atlanta, United States, and banked by the University of Florida Diabetes Institute for studies of type 1 diabetes genetic risk and biomarkers."; "UFDI", "UFDI Study Bank", "UFDI cohort", "University of Florida Diabetes Institute", "University of Florida Diabetes Institute cohort"; ; rdfs:label "University of Florida Diabetes Institute Study Bank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21107 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21107; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5852207/fullTextXML"; rdfs:comment "We determined the capacity for a combined genetic risk score (GRS) to discriminate disease-risk subgroups in a racially and ethnically diverse cohort from the southeastern U.S. including 637 T1D patients, 46 at-risk relatives having two or more T1D-related autoantibodies (≥2AAb+), 790 first-degree relatives (≤1AAb+), 68 second-degree relatives (≤1 AAb+), and 405 controls." . _:4a162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5852207/fullTextXML"; rdfs:comment "Informed consent was obtained from subjects enrolled from outpatient clinics of the University of Florida, Gainesville, Florida; Nemours Children’s Hospital, Orlando, Florida; and Emory University, Atlanta, Georgia, under Institutional Review Board (IRB)-approval at each facility (IRB #201400709)." . _:4a172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000022"; "Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling."; "PMID:29540798" . _:4a182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29540798"; "Application of a Genetic Risk Score to Racially Diverse Type 1 Diabetes Populations Demonstrates the Need for Diversity in Risk-Modeling."; "PMID:29540798", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5852207/fullTextXML"; rdfs:comment "Genomic DNA and serum samples were collected and stored at −20 °C from 1,946 research participants together termed the University of Florida Diabetes Institute (UFDI) cohort." . _:4a192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional collection of serum and genomic DNA from people with type 1 diabetes, their first- and second-degree relatives, islet autoantibody-positive at-risk individuals and unaffected controls, recruited from the general population and from outpatient clinics at the University of Florida in Gainesville, Nemours Children's Hospital in Orlando and Emory University in Atlanta, United States, and banked by the University of Florida Diabetes Institute for studies of type 1 diabetes genetic risk and biomarkers."; "PMID:29540798", "PMID:39755561"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UFDI"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. UGhent is the Radiogenomics Consortium's Ghent cohort of men treated with radiotherapy for prostate cancer at Ghent University Hospital (PMID:31095341), whose patients are the cases of the PRACTICAL study SNP_Prostate_Ghent. Replaced by COHO:0002395 (SNP Prostate Ghent (Belgium)), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete RGC-UGhent cohort"@en; owl:deprecated true . a owl:NamedIndividual, ; ; "UGO"; ; rdfs:label "Umea Genetics of Obesity"@en . _:4a1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UGO"; . a owl:NamedIndividual, ; ; , ; "PMID:27389768"; "A community-based prospective cohort study in Leidsche Rijn, a newly developed residential area of the city of Utrecht, the Netherlands, in which all new inhabitants are invited by their general practitioner to take part, receive a baseline individual health profile from research nurses, and are followed up through continuous linkage with the general practitioners' electronic medical records."; 6542; "LRGP", "Leidsche Rijn Gezondheids Project", "Leidsche Rijn Gezondheidsproject", "UHP"; rdfs:label "Utrecht Health Project"@en . _:4a1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://link.springer.com/article/10.1007/s10654-004-5689-2"; rdfs:comment "This formed the basis for a new study initiated in a newly developed large residential area in Leidsche Rijn, part of the city of Utrecht, the Netherlands." . _:4a1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27389768"; "Exome Array Analysis of Susceptibility to Pneumococcal Meningitis."; "PMID:27389768", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27389768+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We performed a genetic association study in 469 community-acquired pneumococcal meningitis cases and 2072 population-based controls from the Utrecht Health Project in order to find genetic variants associated with pneumococcal meningitis susceptibility." . _:4a1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort study in Leidsche Rijn, a newly developed residential area of the city of Utrecht, the Netherlands, in which all new inhabitants are invited by their general practitioner to take part, receive a baseline individual health profile from research nurses, and are followed up through continuous linkage with the general practitioners' electronic medical records."; "PMID:15921047", "PMID:16887835"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6542; "participants of the Utrecht Health Project, aged 17 to 85, as its population was described in 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6788348/fullTextXML"; rdfs:comment "The population of this study consists of 6,542 participants with ages ranging from 17 to 85 years." . _:4a202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LRGP"; . _:4a212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UHP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21121; , ; ; "PMID:24390345"; "A type 2 diabetes case-control study of Mexican-mestizo adults in Mexico City, whose cases were recruited at the outpatient diabetes clinic of the Department of Endocrinology and Metabolism of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ) and whose normoglycaemic controls were recruited from a cohort of adults aged 45 years or older among government employees, blue-collar workers and people seeking attention in medical units."; 1953; "UIDS", "UNAM/INCMNSZ diabetes study", "Universidad Nacional Autónoma de México/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán diabetes study"; rdfs:label "UNAM/INCMNSZ Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21121 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21121; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9140925/fullTextXML"; rdfs:comment "Diagnosis of T2D was made following the ADA criteria, i.e., fasting plasma glucose values of ≥126 mg/dL, current treatment with a hypoglycemic agent, or casual glucose values of ≥200 mg/dL." . _:4a232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4127086/"; rdfs:comment "UNAM/INCMNSZ Diabetes Study (UIDS) Mexico City, Mexico Prospective Cohort" . _:4a242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24390345"; "Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico."; "PMID:24390345", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature12828/MediaObjects/41586_2014_BFnature12828_MOESM230_ESM.pdf"; rdfs:comment "In order to analyze the association between age of onset and SNP rs13342692, we analyzed cases from DMS, UIDS and MCDS cohorts (age of onset was not available in MEC cohort)." . _:4a252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A type 2 diabetes case-control study of Mexican-mestizo adults in Mexico City, whose cases were recruited at the outpatient diabetes clinic of the Department of Endocrinology and Metabolism of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ) and whose normoglycaemic controls were recruited from a cohort of adults aged 45 years or older among government employees, blue-collar workers and people seeking attention in medical units."; "PMID:24390345", "PMID:35627158", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature12828/MediaObjects/41586_2014_BFnature12828_MOESM230_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1953; "UIDS participants in the 2014 SIGMA individual-cohort association analysis"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fnature12828/MediaObjects/41586_2014_BFnature12828_MOESM230_ESM.pdf"; rdfs:comment "UIDS (n=1,953) 0.72 (0.60-0.87) 4.8×10-4 -0.15 (-0.22 to -0.08) 6.2×10-5" . _:4a272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UIDS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. UK2 GCC is the UK Type 2 Diabetes Genetics Consortium collection, whose subjects all lived in Tayside, Scotland (PMID:17767157): the case-control collection of the Genetics of Diabetes Audit and Research in Tayside Scotland, funded by the same grant. Replaced by COHO:0000082 (Genetics of diabetes Audit and Research), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete UK Type 2 Diabetes Genetics Consortium"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21128; , ; "PMID:21294771"; "A study of patients with type 2 diabetes in general practices in Birmingham and Coventry, United Kingdom, carried out in 2004-2007, made up of a community-based cluster randomised controlled trial of a culturally sensitive enhanced care package for patients of south Asian origin and a parallel cohort study of cardiovascular risk factors in south Asian and white European patients; its south Asian participants have also contributed to genetic association studies of type 2 diabetes."; 1978; "U.K. Asian Diabetes study", "UK Asian Diabetes Study", "UKADS"; rdfs:label "United Kingdom Asian Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21128 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21128; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4060842/fullTextXML"; rdfs:comment "The EuroQol EQ-5D measure was administered to 1,978 patients with type 2 diabetes in the UK Asian Diabetes Study (UKADS): 1,486 of south Asian origin (Indian, Pakistani, Bangladeshi or other south Asian) and 492 of white European origin." . _:4a292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4060842/fullTextXML"; rdfs:comment "This research used data collected by the UK Asian Diabetes Study (UKADS), which comprised of a community-based, cluster randomized controlled trial that evaluated the effectiveness of a culturally sensitive enhanced care package in UK general practice in improving cardiovascular risk factors in south Asian patients with type 2 diabetes, plus a parallel cohort study of cardiovascular risk factors in south Asian and white European patients with type 2 diabetes[3]." . _:4a2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21294771"; "An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumference."; "PMID:21294771", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21294771+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analysed rs9939609 in two studies of Pakistani individuals: 1666 adults aged ≥40 years from the Karachi population-based Control of Blood Pressure and Risk Attenuation (COBRA) study and 2745 individuals of Punjabi ancestry who were part of a Type 2 diabetes case-control study (UK Asian Diabetes Study/Diabetes Genetics in Pakistan; UKADS/DGP)." . _:4a2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of patients with type 2 diabetes in general practices in Birmingham and Coventry, United Kingdom, carried out in 2004-2007, made up of a community-based cluster randomised controlled trial of a culturally sensitive enhanced care package for patients of south Asian origin and a parallel cohort study of cardiovascular risk factors in south Asian and white European patients; its south Asian participants have also contributed to genetic association studies of type 2 diabetes."; "PMID:18502301", "PMID:21294771", "PMID:24902492"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1978; "UKADS type 2 diabetes participants in the main 2004-2007 cohort"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4060842/fullTextXML"; rdfs:comment "The EuroQol EQ-5D measure was administered to 1,978 patients with type 2 diabetes in the UK Asian Diabetes Study (UKADS): 1,486 of south Asian origin (Indian, Pakistani, Bangladeshi or other south Asian) and 492 of white European origin." . _:4a2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKADS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21135; , ; "PGS000004", "PMID:32785646"; "A national population-based case-control study of male breast cancer in England and Wales, set up at the Institute of Cancer Research, London, in 2007 to investigate the aetiology of breast cancer in men, whose cases are men resident in England and Wales diagnosed with invasive or in situ breast cancer at ages 18–79 from 2005 onwards, found through regional cancer registries and consultants, and whose controls are male non-blood relatives of cases and male spouses of women in the Generations Study."; 1210; 264; "BCN Male Breast Cancer Study", "UK Breast Cancer Now Male Breast Cancer Study", "UK-BCN-MBCS"; ; rdfs:label "Breast Cancer Now Male Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21135 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21135; "male breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8023850/fullTextXML"; rdfs:comment "Cases for discovery analysis were primarily from the Breast Cancer Now Male Breast Cancer Study, a population-based case-control study of MBC in England and Wales (UK-BCN-MBCS, n = 1210)." . _:4a2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8023850/fullTextXML"; rdfs:comment "Cases for discovery analysis were primarily from the Breast Cancer Now Male Breast Cancer Study, a population-based case-control study of MBC in England and Wales (UK-BCN-MBCS, n = 1210)." . _:4a302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Common Susceptibility Loci for Male Breast Cancer."; "PMID:32785646" . _:4a312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32785646"; "Common Susceptibility Loci for Male Breast Cancer."; "PMID:32785646", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8023850/fullTextXML"; rdfs:comment "Cases for discovery analysis were primarily from the Breast Cancer Now Male Breast Cancer Study, a population-based case-control study of MBC in England and Wales (UK-BCN-MBCS, n = 1210)." . _:4a322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national population-based case-control study of male breast cancer in England and Wales, set up at the Institute of Cancer Research, London, in 2007 to investigate the aetiology of breast cancer in men, whose cases are men resident in England and Wales diagnosed with invasive or in situ breast cancer at ages 18–79 from 2005 onwards, found through regional cancer registries and consultants, and whose controls are male non-blood relatives of cases and male spouses of women in the Generations Study."; "PMID:32785646", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8023850/supplementaryFiles"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1210; "UK-BCN-MBCS native male cases and controls in the 2020 discovery analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8023850/fullTextXML"; rdfs:comment "Cases for discovery analysis were primarily from the Breast Cancer Now Male Breast Cancer Study, a population-based case-control study of MBC in England and Wales (UK-BCN-MBCS, n = 1210)." . _:4a342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 264; "UK-BCN-MBCS native male cases and controls in the 2020 discovery analysis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8023850/fullTextXML"; rdfs:comment "To estimate autosomal SNP genotype frequencies from the general population, we used male and female controls from the 1958 British Birth Cohort (UK-58BC, n = 2663), male controls from the UK-BCN-MBCS (n = 264), and female controls from the UK Generations Study (UK-GS, n = 698) (Supplementary Table 1, available online) (8)." . _:4a352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK-BCN-MBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21144; , ; ; "PMID:28166215"; "A sub-cohort of UK Biobank participants of European ancestry chosen from the middle and the extremes of the distribution of forced expiratory volume in 1 second among heavy smokers and among never smokers, sampled equally by sex, for nested case-control studies of the genetics of lung function, smoking behaviour and chronic obstructive pulmonary disease, and genotyped on the custom UK BiLEVE Axiom array."; 50008; "UK BiLEVE", "UK BiLEVE Cohort Information", "UK BiLEVE study", "UKBiLEVE"; rdfs:label "UK Biobank Lung Exome Variant Evaluation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21144 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21144; "heavy smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4593935/fullTextXML"; rdfs:comment "We sampled individuals of European ancestry from UK Biobank, from the middle and extremes of the forced expiratory volume in 1 s (FEV1) distribution among heavy smokers (mean 35 pack-years) and never smokers." . _:4a372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4593935/fullTextXML"; rdfs:comment "UK Biobank is the largest European biobank available at present and represents an extensive resource from which to sample phenotypic extremes in the UK population." . _:4a382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3752/MediaObjects/41588_2017_BFng3752_MOESM1_ESM.pdf"; rdfs:comment "UK BiLEVE is a subset of UK Biobank and is described in detail elsewhere62." . _:4a392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28166215"; "Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis."; "PMID:28166215", "https://pmc.ncbi.nlm.nih.gov/articles/PMC5381275/"; rdfs:comment "An overall meta-analysis across the Stage 1 and Stage 2 (UK BiLEVE) cohorts was performed and variants with P < 5×10−8 were considered genome-wide significant (Figure 1)." . _:4a3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-cohort of UK Biobank participants of European ancestry chosen from the middle and the extremes of the distribution of forced expiratory volume in 1 second among heavy smokers and among never smokers, sampled equally by sex, for nested case-control studies of the genetics of lung function, smoking behaviour and chronic obstructive pulmonary disease, and genotyped on the custom UK BiLEVE Axiom array."; "PMID:26423011", "PMID:28166215", "PMID:30305743"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50008; "UK Biobank participants selected for the study (unique samples), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4593935/fullTextXML"; rdfs:comment "We selected 50 008 unique samples: 10 002 individuals with low FEV1, 10 000 with average FEV1, and 5002 with high FEV1 from each of the heavy smoker and never smoker groups." . _:4a3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UK BiLEVE"; . _:4a3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBiLEVE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21153; , ; "PMID:24121790"; "A United Kingdom study, funded by a Medical Research Council programme grant, of people with Barrett's oesophagus identified at endoscopy with a histopathologically confirmed diagnosis of intestinal metaplasia and recruited across the UK excluding Northern Ireland, whose cases have been used in genetic association studies of Barrett's oesophagus and oesophageal adenocarcinoma."; 882; "UK Barrett's Esophagus Gene Study", "UK Barrett's oesophagus gene study", "UK Barretts Oesophagus Gene Study", "UK Gene Study", "UKBOGS"; rdfs:label "UK Barrett's Oesophagus Gene Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21153 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21153; "Barrett's esophagus"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3840115/"; rdfs:comment "Barrett’s esophagus cases were identified at endoscopy with a confirmed histopathological diagnosis of intestinal metaplasia from the UK Barrett’s Oesophagus Gene Study." . _:4a3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2796/MediaObjects/41588_2013_BFng2796_MOESM2_ESM.pdf"; rdfs:comment "UK-wide excluding Northern Ireland (UK Gene Study)" . _:4a402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24121790"; "A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus."; "PMID:24121790", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3840115/"; rdfs:comment "Of these, 87 were genotyped in 874 histologically confirmed esophageal adenocarcinoma cases from the Stomach and Oesophageal Cancer Study (SOCS), 759 histologically confirmed Barrett’s esophagus cases from the UK Barrett’s Oesophagus Gene Study (UK Gene Study) and 6,911 controls, of which 1,711 were from the SEARCH Study and 5,200 from the Welcome Trust Case Control Consortium 2 (WTCCC2)." . _:4a412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A United Kingdom study, funded by a Medical Research Council programme grant, of people with Barrett's oesophagus identified at endoscopy with a histopathologically confirmed diagnosis of intestinal metaplasia and recruited across the UK excluding Northern Ireland, whose cases have been used in genetic association studies of Barrett's oesophagus and oesophageal adenocarcinoma."; "PMID:24121790", "PMID:29551738"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 882; "Barrett's oesophagus patients from the study in the pooled BEACON gene-environment dataset of 2018 (analysed subset; no total of the study is stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6162842/fullTextXML"; rdfs:comment "The pooled dataset also included an additional 1,003 EA patients and 882 BE patients from the United Kingdom Stomach and Oesophageal Cancer Study and the UK Barrett’s Esophagus Gene Study, respectively." . _:4a432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKBOGS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. UKBonn ('Universitäts Klinikum Bonn') is the PGS Catalog's id for the Lynch syndrome carriers from the University Hospital of Bonn in the Dueñas 2023 polygenic-score study: 547 people with genetically confirmed Lynch syndrome from 392 families, index patients and relatives found by cascade testing at Bonn's Institute of Human Genetics. The paper names them only by the hospital ('the UKB LS cohort'). No study name, design paper or registry name is given, and the paper does not say whether they come from the German HNPCC Consortium registry. It is a hospital's patient series, so, like HZ, it is not a cohort. No COHO term for a Bonn Lynch syndrome series (the Bonn terms in COHO are COVID, OMNI and psychiatric studies). The Spanish half, ICO (E522, placeholder COHO:0001901, 'the ICO LS cohort' from the Catalan Institute of Oncology's Lynch Syndrome Database), is a separate row. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Universitäts Klinikum Bonn"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21160; , , ; "PMID:18413818"; "A multicentre, randomised, double-blind, placebo-controlled trial in the United Kingdom and Denmark of aspirin (300 mg/day) and folic acid (0.5 mg/day) in a 2 x 2 factorial design for the prevention of colorectal adenoma recurrence, in patients who had had a colorectal adenoma removed in the six months before recruitment and who were followed up with a second colonoscopy after about three years; DNA from its participants has been used in genetic studies of adenoma risk and recurrence."; 945; "UKCAP", "UKCAP trial", "United Kingdom Colorectal Adenoma Prevention", "ukCAP", "ukCAP trial"; rdfs:label "United Kingdom Colorectal Adenoma Prevention trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21160 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21160; "colorectal adenoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18022173+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "All patients had an adenoma (>/=0.5 cm) removed in the 6 months before recruitment and were followed-up at 4-month intervals with a second colonoscopy after approximately 3 years." . _:4a452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10641704/fullTextXML"; rdfs:comment "Three studies were conducted in the US (AFPPS, NHS/HPFS and the trial by Jaszewski et al.) and one in the UK and Denmark (UkCAP)." . _:4a462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18413818"; "Ornithine decarboxylase G316A genotype is prognostic for colorectal adenoma recurrence and predicts efficacy of aspirin chemoprevention."; "PMID:18413818", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18413818+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped ODC G316A in 546 individuals in the United Kingdom Colorectal Adenoma Prevention trial of aspirin for CRA recurrence prevention and pooled our findings with data from two other randomized intervention trials." . _:4a472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, randomised, double-blind, placebo-controlled trial in the United Kingdom and Denmark of aspirin (300 mg/day) and folic acid (0.5 mg/day) in a 2 x 2 factorial design for the prevention of colorectal adenoma recurrence, in patients who had had a colorectal adenoma removed in the six months before recruitment and who were followed up with a second colonoscopy after about three years; DNA from its participants has been used in genetic studies of adenoma risk and recurrence."; "PMID:17971770", "PMID:18022173", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10641704/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 945; "Patients recruited to UKCAP"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18022173+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 945 patients were recruited into the study, of whom 853 (90.3%) underwent a second colonoscopy." . _:4a492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKCAP"; . _:4a4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ukCAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21168; , , ; , ; "PGS000077", "PMID:24292274"; "The two UK case-control genome-wide association studies of chronic lymphocytic leukaemia led by the Institute of Cancer Research: UK-CLL-1, whose cases came from the International CLL Linkage Consortium and the Leukaemia Research Fund CLL4 trial, and UK-CLL-2, whose cases came from a UK national study of CLL genetics coordinated by the Institute of Cancer Research and from the Newcastle CLL Consortium; both used publicly available genotypes of UK controls from the Wellcome Trust Case Control Consortium, the 1958 Birth Cohort and the UK Blood Service."; 1739; 5199; "CLL-UK1", "CLL-UK2", "UK-CLL-1", "UK-CLL-2", "UK-CLL1", "UK-CLL2"; ; rdfs:label "UK-CLL"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21168 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21168; "chronic lymphocytic leukaemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24292274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls." . _:4a4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253627/fullTextXML"; rdfs:comment "For the UK controls, we used publicly accessible data generated by the Wellcome Trust Case Control Consortium (WTCCC), the 1958 Birth Cohort (also known as the National Child Development Study) and UK Blood Service76." . _:4a4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253627/fullTextXML"; rdfs:comment "For the UK controls, we used publicly accessible data generated by the Wellcome Trust Case Control Consortium (WTCCC), the 1958 Birth Cohort (also known as the National Child Development Study) and UK Blood Service76." . _:4a4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253627/fullTextXML"; rdfs:comment "The CLL-UK1 GWAS comprised 517 cases: (i) 155 cases (95 male; mean age at diagnosis: 59 years) from ICLLLC; and (ii) 362 cases (269 male; mean age at diagnosis: 63 years) from the Leukaemia Research CLL-4 trial." . _:4a4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5253627/fullTextXML"; rdfs:comment "1,111 cases collected through a UK national study of CLL genetics coordinated by the ICR" . _:4a502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000077"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:4a512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24292274"; "A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia."; "PMID:24292274", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2843/MediaObjects/41588_2014_BFng2843_MOESM31_ESM.pdf"; rdfs:comment "Odds ratios and P-values shown are derived from the harmonised UK-CLL-2 and UK-CLL-1 datasets." . _:4a522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The two UK case-control genome-wide association studies of chronic lymphocytic leukaemia led by the Institute of Cancer Research: UK-CLL-1, whose cases came from the International CLL Linkage Consortium and the Leukaemia Research Fund CLL4 trial, and UK-CLL-2, whose cases came from a UK national study of CLL genetics coordinated by the Institute of Cancer Research and from the Newcastle CLL Consortium; both used publicly available genotypes of UK controls from the Wellcome Trust Case Control Consortium, the 1958 Birth Cohort and the UK Blood Service."; "PMID:24292274", "PMID:28112199", "PMID:28165464"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1739; "UK-CLL discovery meta-analysis in the own 2014 paper"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24292274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls." . _:4a542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5199; "UK-CLL discovery meta-analysis in the own 2014 paper"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24292274+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls." . a owl:NamedIndividual, ; , ; "PGS000082", "PMID:19648919"; "A set of population-based controls from the United Kingdom, taken from a national colorectal cancer genetics study and genotyped on the Illumina HumanHap550 array for a colorectal cancer genome-wide association study, whose existing genotypes were reused as controls in the first stage of an ovarian cancer genome-wide association study."; 917; "NSCR", "UKCRC"; ; rdfs:label "UK Colorectal control"@en . _:4a552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.424/MediaObjects/41588_2009_BFng424_MOESM8_ESM.pdf"; rdfs:comment "UK Colorectal control NSCR UK Population based - 917" . _:4a562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:4a572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19648919"; "A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2."; "PMID:19648919", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2844110/unicode"; rdfs:comment "Existing data from two sets of controls, genotyped on the Infinium 550k array, were used in stage 1 analyses: the Welcome Trust Case-Control Consortium 1958 birth cohort, and a national colorectal control study using Illumina platform Hap550 array." . _:4a582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A set of population-based controls from the United Kingdom, taken from a national colorectal cancer genetics study and genotyped on the Illumina HumanHap550 array for a colorectal cancer genome-wide association study, whose existing genotypes were reused as controls in the first stage of an ovarian cancer genome-wide association study."; "PMID:19011631", "PMID:19648919"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 917; "NSCR population controls reused in stage 1 of the 2009 ovarian GWAS"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.424/MediaObjects/41588_2009_BFng424_MOESM8_ESM.pdf"; rdfs:comment "UK Colorectal control NSCR UK Population based - 917" . _:4a5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NSCR"; . _:4a5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKCRC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The women of the UK Collaborative Trial of Ovarian Cancer Screening, whose samples the only paper the PGS Catalog records the id in uses (PMID:29730597), are the UKCTOCS Longitudinal Women's Cohort. Replaced by COHO:0002688 (UKCTOCS Longitudinal Women's Cohort), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete UK Collaborative Trial of Ovarian Cancer Screening"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21186; , , , , , , , , , , , , , ; "PMID:24795349"; "A pooled sample of four European cardiovascular studies with leukocyte telomere length measures: the HIFMECH study (male survivors of a first myocardial infarction and population controls from four centres in Sweden, England, France and Italy), the Simon Broome study (patients with heterozygous familial hypercholesterolaemia from six UK lipid clinics), the University College London Diabetes and Cardiovascular disease Study (UDACS, patients of the diabetes clinic at UCL Hospitals) and the European Atherosclerosis Research Study II (young men whose fathers had a myocardial infarction before the age of 55, and age-matched controls). Under this name its 2,952 myocardial infarction patients and healthy controls of European ancestry were the Stage 2 replication sample of a 2014 genome-wide association study of leukocyte telomere length in Punjabi Sikhs."; 2952; rdfs:label "UKCVD"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21186 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21186; "myocardial infarction"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4106467/"; rdfs:comment "For Stage 2 replication, we directly genotyped 3 lead SNPs representing 2 top novel independent (r2<0.25) association signals (CSNK2A2 and FER) in a UK CVD cohort available with RTL measures on 2,952 MI patients and healthy controls." . _:4a5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4106467/bin/NIHMS595180-supplement-000412_-_Supplemental_Material.pdf"; rdfs:comment "The HIFMECH study comprises Caucasian male survivors of a first MI aged <60 years (excluding patients with FH and insulin‐dependent diabetes mellitus) and population‐based individuals of the same age and region recruited from four centres in Europe: Stockholm, Sweden and London, England for the North and Marseille, France and San Giovanni Retondo, Italy representing the South" . _:4a5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4106467/bin/NIHMS595180-supplement-000412_-_Supplemental_Material.pdf"; rdfs:comment "The subjects were recruited from 14 European university student populations from 11 European countries, which were divided into 4 regions: Baltic (Estonia and Finland); United Kingdom; Middle Europe (Belgium, Denmark, Germany, and Switzerland); and South Europe (Greece, Italy, Portugal and Spain)." . _:4a5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4106467/bin/NIHMS595180-supplement-000412_-_Supplemental_Material.pdf"; rdfs:comment "The Simon Broome study is a cross‐sectional study comprising 410 Caucasian patients with treated heterozygous FH aged 18 years recruited from 6 lipid clinics in the UK." . _:4a602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24795349"; "Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort."; "PMID:24795349", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4106467/"; rdfs:comment "Combined AIDHS/SDS and UKCVD meta-analysis revealed rs74019828 (CSNK2A2) and rs112020835 (FER) to be significantly associated with RTL (Figure 6, Supplementary Table 11)." . _:4a612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pooled sample of four European cardiovascular studies with leukocyte telomere length measures: the HIFMECH study (male survivors of a first myocardial infarction and population controls from four centres in Sweden, England, France and Italy), the Simon Broome study (patients with heterozygous familial hypercholesterolaemia from six UK lipid clinics), the University College London Diabetes and Cardiovascular disease Study (UDACS, patients of the diabetes clinic at UCL Hospitals) and the European Atherosclerosis Research Study II (young men whose fathers had a myocardial infarction before the age of 55, and age-matched controls). Under this name its 2,952 myocardial infarction patients and healthy controls of European ancestry were the Stage 2 replication sample of a 2014 genome-wide association study of leukocyte telomere length in Punjabi Sikhs."; "PMID:24795349", "https://pmc.ncbi.nlm.nih.gov/articles/instance/4106467/bin/NIHMS595180-supplement-000412_-_Supplemental_Material.pdf"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2952; "people of European ancestry (myocardial infarction patients and healthy controls) pooled as the Stage 2 replication sample of the 2014 telomere length GWAS"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4106467/"; rdfs:comment "We further tested 3 top variants by genotyping in UKCVD (Caucasians n=2,952) for Stage 2." . a owl:NamedIndividual, ; ; "UKFBCS"; ; rdfs:label "UK Familial Breast Cancer Study"@en . _:4a632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKFBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21195, _:genid-371333f489424440b12a13b9d98ced822608-genid21197; , ; ; "PGS000082", "PMID:19648919"; "A register of families in the United Kingdom in which at least two people have been diagnosed with ovarian cancer, begun in 1991 as the UKCCCR study of familial ovarian cancer and supported by Cancer Research UK and the University of Cambridge, which recruited until 2009 and collected medical information, family histories and, from some members, blood and tissue samples to study familial risk factors for ovarian cancer."; 47; "Cancer Research UK familial ovarian Cancer Register", "FOCR", "UK Familial Ovarian Cancer Registry", "UKCCCR study of familial ovarian cancer", "UKFOCR", "UKR", "United Kingdom Familial Ovarian Cancer Registries", "familial ovarian cancer register"; ; rdfs:label "UK Familial Ovarian Cancer Register"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21195 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21197 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21195; "breast cancer"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=10861460&retmode=xml"; rdfs:comment "We have estimated these risks in women from families with 2 or more confirmed ovarian cancers in first-degree relatives using data from the UKCCCR Familial Ovarian Cancer Register." . _:4a652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21197; "ovarian cancer"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=10861460&retmode=xml"; rdfs:comment "We have estimated these risks in women from families with 2 or more confirmed ovarian cancers in first-degree relatives using data from the UKCCCR Familial Ovarian Cancer Register." . _:4a662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://web.archive.org/web/20230402084624/https://www.cancerresearchuk.org/about-cancer/find-a-clinical-trial/a-study-looking-at-family-history-and-ovarian-cancer"; rdfs:comment "This study started in 1991 as the UKCCCR study of familial ovarian cancer. It later became the UK Familial Ovarian Cancer Register (FOCR)." . _:4a672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:4a682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19648919"; "A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2."; "PMID:19648919", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.424/MediaObjects/41588_2009_BFng424_MOESM8_ESM.pdf"; rdfs:comment "Cancer Research UK familial ovarian Cancer Register FOCR UK Familial cancer register 47 (3)" . _:4a692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A register of families in the United Kingdom in which at least two people have been diagnosed with ovarian cancer, begun in 1991 as the UKCCCR study of familial ovarian cancer and supported by Cancer Research UK and the University of Cambridge, which recruited until 2009 and collected medical information, family histories and, from some members, blood and tissue samples to study familial risk factors for ovarian cancer."; "PMID:19648919", "https://web.archive.org/web/20230402084624/https://www.cancerresearchuk.org/about-cancer/find-a-clinical-trial/a-study-looking-at-family-history-and-ovarian-cancer"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 47; "Familial UK ovarian-cancer cases contributed to stage 1 of the 2009 GWAS before genotype exclusions"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.424/MediaObjects/41588_2009_BFng424_MOESM8_ESM.pdf"; rdfs:comment "Cancer Research UK familial ovarian Cancer Register FOCR UK Familial cancer register 47 (3)" . _:4a6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FOCR"; . _:4a6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKFOCR"; . _:4a6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21207; , ; "PMID:24586183"; "The patients with Graves' disease of the United Kingdom's national DNA collection for autoimmune thyroid disease (the AITD National Collection), a multicentre collection of Caucasian patients with Graves' disease or Hashimoto's thyroiditis and their family members, recruited at hospitals across the United Kingdom with clinical and biochemical data collected prospectively under a common protocol and funded by the Wellcome Trust. Its Graves' disease patients have served as cases in genetic association studies of Graves' disease, analysed against British 1958 Birth Cohort controls."; 2478; "UK Graves' disease cohort", "UKGDC", "United Kingdom Graves disease cohort"; rdfs:label "United Kingdom Graves' disease cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21207 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21207; "Graves' disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3937134/fullTextXML"; rdfs:comment "For the Graves' disease analyses, cases were recruited from the United Kingdom Graves' disease cohort and controls from the British 1958 Birth Cohort." . _:4a6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3937134/fullTextXML"; rdfs:comment "For the Graves' disease analyses, cases were recruited from the United Kingdom Graves' disease cohort and controls from the British 1958 Birth Cohort." . _:4a702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24586183"; "Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease."; "PMID:24586183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3937134/fullTextXML"; rdfs:comment "For the Graves' disease analyses, cases were recruited from the United Kingdom Graves' disease cohort and controls from the British 1958 Birth Cohort." . _:4a712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The patients with Graves' disease of the United Kingdom's national DNA collection for autoimmune thyroid disease (the AITD National Collection), a multicentre collection of Caucasian patients with Graves' disease or Hashimoto's thyroiditis and their family members, recruited at hospitals across the United Kingdom with clinical and biochemical data collected prospectively under a common protocol and funded by the Wellcome Trust. Its Graves' disease patients have served as cases in genetic association studies of Graves' disease, analysed against British 1958 Birth Cohort controls."; "PMID:16968788", "PMID:17952073", "PMID:24586183"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2478; "patients with Graves' disease in the cohort, as described for the 2014 TPOAb study"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1004123.s015"; rdfs:comment "The United Kingdom (UK) Graves’ disease cases consisted of 2478 patients, with a mean age of 32 years and consisted of 82% females [92]." . _:4a732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKGDC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21214; , ; ; "PGS003415", "PMID:25595936"; "A multi-institutional, longitudinal observational study of prostate cancer in the United Kingdom, conducted through the Royal Marsden NHS Foundation Trust, that since 1992 has recruited men with histologically confirmed prostate cancer in a population-based arm and in arms enriched for young age at onset or a family history of the disease, together with cancer-free men from its clinics as controls, collecting baseline and follow-up clinical data to study inherited susceptibility to prostate cancer and its outcomes."; 16633; "UKGPCS", "Uk genetic prostate cancer study"; ; rdfs:label "UK Genetic Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21214 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21214; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9928632/"; rdfs:comment "We used data on the families of 16,633 European ancestry probands recruited from 1993 to 2017." . _:4a752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36493335+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We developed a risk model using a kin-cohort comprising individuals from 16,633 PCa families ascertained in the United Kingdom from 1993 to 2017 from the UK Genetic Prostate Cancer Study, and complex segregation analysis adjusting for ascertainment." . _:4a762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003415"; "CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer."; "PMID:36493335" . _:4a772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25595936"; "Prevalence of the HOXB13 G84E germline mutation in British men and correlation with prostate cancer risk, tumour characteristics and clinical outcomes."; "PMID:25595936", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25595936+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped 8652 men diagnosed with PrCa within the UK Genetic Prostate Cancer Study (UKGPCS) and 5252 healthy men from the UK ProtecT study." . _:4a782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-institutional, longitudinal observational study of prostate cancer in the United Kingdom, conducted through the Royal Marsden NHS Foundation Trust, that since 1992 has recruited men with histologically confirmed prostate cancer in a population-based arm and in arms enriched for young age at onset or a family history of the disease, together with cancer-free men from its clinics as controls, collecting baseline and follow-up clinical data to study inherited susceptibility to prostate cancer and its outcomes."; "PMID:31089142", "PMID:36493335", "PMID:36528478"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16633; "European ancestry UKGPCS probands selected for the 2023 model"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9928632/"; rdfs:comment "We used data on the families of 16,633 European ancestry probands recruited from 1993 to 2017." . _:4a7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKGPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21222, _:genid-371333f489424440b12a13b9d98ced822608-genid21224; , ; , , , ; ; "PGS000004", "PMID:29058716"; "The combined contribution to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) of two registries of families with ovarian cancer, the UK Familial Ovarian Cancer Register and the Gilda Radner Familial Ovarian Cancer Registry of Buffalo, New York, providing women carrying BRCA1 or BRCA2 mutations from registered families in the United Kingdom and the United States."; 13; 40; "UKGRFOCR"; ; rdfs:label "UK and Gilda Radner Familial Ovarian Cancer Registries"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21222 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21224 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21222; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:4a7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21224; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:4a7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-20496-3/MediaObjects/41467_2020_20496_MOESM1_ESM.pdf"; rdfs:comment "UKGRFOCR UK and Gilda Radner Familial Ovarian Cancer Registries UK/USA" . _:4a7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-20496-3/MediaObjects/41467_2020_20496_MOESM1_ESM.pdf"; rdfs:comment "UKGRFOCR UK and Gilda Radner Familial Ovarian Cancer Registries UK/USA" . _:4a7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-020-20496-3/MediaObjects/41467_2020_20496_MOESM1_ESM.pdf"; rdfs:comment "UKGRFOCR UK and Gilda Radner Familial Ovarian Cancer Registries UK/USA" . _:4a802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants."; "PMID:32665703" . _:4a812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "UKGRFOCR | UK and Gilda Radner Familial Ovarian Cancer Registries | UK | 40 | 13 | | 5 | 0" . _:4a822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The combined contribution to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) of two registries of families with ovarian cancer, the UK Familial Ovarian Cancer Register and the Gilda Radner Familial Ovarian Cancer Registry of Buffalo, New York, providing women carrying BRCA1 or BRCA2 mutations from registered families in the United Kingdom and the United States."; "PMID:19648919", "PMID:28346442", "PMID:32665703", "PMID:33597508"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "UKGRFOCR | UK and Gilda Radner Familial Ovarian Cancer Registries | UK | 40 | 13 | | 5 | 0" . _:4a842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 40; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "UKGRFOCR | UK and Gilda Radner Familial Ovarian Cancer Registries | UK | 40 | 13 | | 5 | 0" . _:4a852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKGRFOCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21235, _:genid-371333f489424440b12a13b9d98ced822608-genid21237, _:genid-371333f489424440b12a13b9d98ced822608-genid21239; , ; "PMID:28067908"; "A genome-wide association study sample of the UK IBD Genetics Consortium, analysed in a 2017 genome-wide association study of inflammatory bowel disease: British patients with Crohn's disease, ulcerative colitis or unclassified inflammatory bowel disease, diagnosed by accepted endoscopic, histopathological and radiological criteria and genotyped on the Human Core Exome v12.1, with population controls from the Understanding Society project (the UK Household Longitudinal Study) genotyped on the Human Core Exome v12.0."; 11758; 10484; 22242; "UKHCEIBD"; rdfs:label "UK HumanCoreExome genotyped IBD study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21235 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21237 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21239 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21235; "Crohn's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5289481/fullTextXML"; rdfs:comment "After quality control, data were available for 4,474 Crohn’s disease, 4,173 ulcerative colitis, 592 IBD-unclassified cases and 9,500 controls for 296,203 variants." . _:4a872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21237; "ulcerative colitis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5289481/fullTextXML"; rdfs:comment "After quality control, data were available for 4,474 Crohn’s disease, 4,173 ulcerative colitis, 592 IBD-unclassified cases and 9,500 controls for 296,203 variants." . _:4a882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21239; "inflammatory bowel disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5289481/fullTextXML"; rdfs:comment "After quality control, data were available for 4,474 Crohn’s disease, 4,173 ulcerative colitis, 592 IBD-unclassified cases and 9,500 controls for 296,203 variants." . _:4a892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5289481/fullTextXML"; rdfs:comment "Following ethical approval by Cambridge MREC (reference: 03/5/012), 11,768 British IBD cases, diagnosed using accepted endoscopic, histopathological and radiological criteria, were consented into the study and genotyped on the Human Core Exome v12.1." . _:4a8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28067908"; "Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease."; "PMID:28067908", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3760/MediaObjects/41588_2017_BFng3760_MOESM275_ESM.xlsx"; rdfs:comment "UK HumanCoreExome genotyped IBD study | Samples | 5695 | 4474 | 4264 | 5299 | 4173 | 4072 | 11758 | 9239 | 8860 | 10484 | 9500 | 9495 | 22242 | 18739 | 18355" . _:4a8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genome-wide association study sample of the UK IBD Genetics Consortium, analysed in a 2017 genome-wide association study of inflammatory bowel disease: British patients with Crohn's disease, ulcerative colitis or unclassified inflammatory bowel disease, diagnosed by accepted endoscopic, histopathological and radiological criteria and genotyped on the Human Core Exome v12.1, with population controls from the Understanding Society project (the UK Household Longitudinal Study) genotyped on the Human Core Exome v12.0."; "PMID:28067908"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 11758; "British IBD cases and Understanding Society population controls genotyped on the Human Core Exome, before quality control (the table's Total columns)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3760/MediaObjects/41588_2017_BFng3760_MOESM275_ESM.xlsx"; rdfs:comment "UK HumanCoreExome genotyped IBD study | Samples | 5695 | 4474 | 4264 | 5299 | 4173 | 4072 | 11758 | 9239 | 8860 | 10484 | 9500 | 9495 | 22242 | 18739 | 18355" . _:4a8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10484; "British IBD cases and Understanding Society population controls genotyped on the Human Core Exome, before quality control (the table's Total columns)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3760/MediaObjects/41588_2017_BFng3760_MOESM275_ESM.xlsx"; rdfs:comment "UK HumanCoreExome genotyped IBD study | Samples | 5695 | 4474 | 4264 | 5299 | 4173 | 4072 | 11758 | 9239 | 8860 | 10484 | 9500 | 9495 | 22242 | 18739 | 18355" . _:4a8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22242; "British IBD cases and Understanding Society population controls genotyped on the Human Core Exome, before quality control (the table's Total columns)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3760/MediaObjects/41588_2017_BFng3760_MOESM275_ESM.xlsx"; rdfs:comment "UK HumanCoreExome genotyped IBD study | Samples | 5695 | 4474 | 4264 | 5299 | 4173 | 4072 | 11758 | 9239 | 8860 | 10484 | 9500 | 9495 | 22242 | 18739 | 18355" . _:4a8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKHCEIBD"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. UK National Health Service Trusts are the organisations that run NHS services, an organisational setting, not a study; no score in the PGS Catalog uses the id. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete UK National Health Service Trusts"@en; owl:deprecated true . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. UK National MND DNA is the start of 'the UK National MND DNA bank', as PMID:20801717, the paper the existing term is defined from, names it. Replaced by COHO:0000196 (Motor Neuron Disease Biobank study), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete UK National MND DNA"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21248; , ; , ; "PGS000344", "PMID:23360124"; "A population-based case-control study of ovarian cancer run from University College London at hospitals in England, Wales and Northern Ireland, whose cases are women with an adnexal mass suspicious of ovarian cancer about to undergo surgery or with a confirmed or probable diagnosis of primary invasive or borderline ovarian cancer, and whose controls are women with a possibly benign or borderline adnexal mass and apparently healthy women from the multimodal screening arm of UKCTOCS, set up to find genetic risk factors, markers to add to CA125 and early symptoms of ovarian cancer."; 718; 1123; "UKO", "UKOPS", "United Kingdom Ovarian Cancer Population Study"; ; rdfs:label "UK Ovarian Cancer Population Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21248 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21248; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "United Kingdom Ovarian Cancer Population Study UKO United Kingdom (England, Wales and Northern Ireland) Population based/ Case-‐control 718 1123 98.1 702(353)" . _:4a912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; rdfs:comment "UKO United Kingdom Ovarian Cancer Population Study United Kingdom (England, Wales and Northern Ireland) Population" . _:4a922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000344"; "European polygenic risk score for prediction of breast cancer shows similar performance in Asian women."; "PMID:32737321" . _:4a932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23360124"; "Microarray Glycoprofiling of CA125 improves differential diagnosis of ovarian cancer."; "PMID:23360124", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23360124+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a blinded cohort study of patients with an elevated CA125 levels (30-500 kU/L) and a pelvic mass from the UK Ovarian Cancer Population Study (UKOPS), we measured STn-CA125, ST-CA125 and STn-CA15-3." . _:4a942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of ovarian cancer run from University College London at hospitals in England, Wales and Northern Ireland, whose cases are women with an adnexal mass suspicious of ovarian cancer about to undergo surgery or with a confirmed or probable diagnosis of primary invasive or borderline ovarian cancer, and whose controls are women with a possibly benign or borderline adnexal mass and apparently healthy women from the multimodal screening arm of UKCTOCS, set up to find genetic risk factors, markers to add to CA125 and early symptoms of ovarian cancer."; "PMID:23513043", "https://www.mrcctu.ucl.ac.uk/studies/all-studies/u/ukops"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 718; "UKOPS cases and controls passing genotyping QC in the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "United Kingdom Ovarian Cancer Population Study UKO United Kingdom (England, Wales and Northern Ireland) Population based/ Case-‐control 718 1123 98.1 702(353)" . _:4a962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1123; "UKOPS cases and controls passing genotyping QC in the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "United Kingdom Ovarian Cancer Population Study UKO United Kingdom (England, Wales and Northern Ireland) Population based/ Case-‐control 718 1123 98.1 702(353)" . _:4a972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKO"; . _:4a982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKOPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21258; , ; "PMID:2097090"; "A multicentre randomised intervention trial in the United Kingdom, begun in 1977 and expanded to 23 centres by 1987, of patients aged 25–65 years with newly diagnosed type 2 diabetes, who after initial diet treatment were randomly allocated to intensive blood-glucose control (with a sulphonylurea or insulin, or metformin for overweight patients) or to conventional diet-based treatment, with the Hypertension in Diabetes Study nested in a factorial design comparing tight with less tight blood-pressure control; its participants were followed for diabetic complications and death for decades after the intervention ended."; 4209; "UKPDS", "United Kingdom Prospective Diabetes Study"; rdfs:label "UK Prospective Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21258 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21258; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1778353+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The UK Prospective Diabetes Study (UKPDS) is a multi-centre, prospective, randomised, intervention trial of 5100 newly-diagnosed patients with Type 2 (non-insulin-dependent) diabetes mellitus which aims to determine whether improved blood glucose control will prevent complications and reduce the associated morbidity and mortality." . _:4a9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:2097090"; "UK Prospective Diabetes Study 6. Complications in newly diagnosed type 2 diabetic patients and their association with different clinical and biochemical risk factors."; "PMID:2097090", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A2097090+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The patients entered into the UK Prospective Diabetes Study were aged between 25 and 65 (mean age 52 yr) and 33% had either an abnormal ECG or retinopathy." . _:4a9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre randomised intervention trial in the United Kingdom, begun in 1977 and expanded to 23 centres by 1987, of patients aged 25–65 years with newly diagnosed type 2 diabetes, who after initial diet treatment were randomly allocated to intensive blood-glucose control (with a sulphonylurea or insulin, or metformin for overweight patients) or to conventional diet-based treatment, with the Hypertension in Diabetes Study nested in a factorial design comparing tight with less tight blood-pressure control; its participants were followed for diabetic complications and death for decades after the intervention ended."; "PMID:1778353", "PMID:40485651", "PMID:9742976"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4a9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4209; "UKPDS participants randomized to glycaemic-control policies (1991)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38772405+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "5102 patients enrolled between 1977 and 1991, of whom 4209 (82·5%) participants were originally randomly allocated to receive either intensive glycaemic control (sulfonylurea or insulin, or if overweight, metformin) or conventional glycaemic control (primarily diet)." . _:4a9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKPDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21264; , ; "PMID:20453842"; "A collection of adult patients with rheumatoid arthritis fulfilling the 1987 American College of Rheumatology criteria, and of healthy controls, assembled for genetic studies by the UK Rheumatoid Arthritis Genetics consortium, a collaboration of six UK rheumatology research groups. Cases were recruited in Manchester, Aberdeen, Leeds, Sheffield, London and Oxford, mostly from NHS rheumatology clinics but also from the Arthritis Research Campaign National Repository of Family Material and the Norfolk Arthritis Register, and controls in five of these centres; its samples were used to replicate and extend rheumatoid arthritis susceptibility loci from genome-wide association studies."; 5063; 3849; "UK Rheumatoid Arthritis Genetics", "UK Rheumatoid Arthritis Genetics Consortium", "UK Rheumatoid Arthritis Genetics Group", "UKRAG"; rdfs:label "United Kingdom Rheumatoid Arthritis Genetics"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21264 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4a9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21264; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2978888/fullTextXML"; rdfs:comment "DNA samples for 3,838 RA cases and 2,719 healthy unrelated controls were made available from the UK Rheumatoid Arthritis Genetics (UKRAG) consortium, a collaboration of six UK rheumatology research groups." . _:4a9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2978888/fullTextXML"; rdfs:comment "DNA samples for 3,838 RA cases and 2,719 healthy unrelated controls were made available from the UK Rheumatoid Arthritis Genetics (UKRAG) consortium, a collaboration of six UK rheumatology research groups." . _:4aa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20453842"; "Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci."; "PMID:20453842", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4243840/unicode"; rdfs:comment "(7) CCP or RF positive cases recruited at multiple sites in the United Kingdom by the United Kingdom Rheumatoid Arthritis Genetics (UKRAG) collaboration" . _:4aa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of adult patients with rheumatoid arthritis fulfilling the 1987 American College of Rheumatology criteria, and of healthy controls, assembled for genetic studies by the UK Rheumatoid Arthritis Genetics consortium, a collaboration of six UK rheumatology research groups. Cases were recruited in Manchester, Aberdeen, Leeds, Sheffield, London and Oxford, mostly from NHS rheumatology clinics but also from the Arthritis Research Campaign National Repository of Family Material and the Norfolk Arthritis Register, and controls in five of these centres; its samples were used to replicate and extend rheumatoid arthritis susceptibility loci from genome-wide association studies."; "PMID:17982455", "PMID:19898481", "PMID:20852893"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4aa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5063; "rheumatoid arthritis cases and healthy controls of the six-centre UK validation cohort, the UKRAG collection as described in detail in 2007 (2007 report)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2674282/"; rdfs:comment "SNPs at these loci were genotyped in an independent cohort of 5,063 rheumatoid arthritis cases and 3,849 healthy controls" . _:4aa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3849; "rheumatoid arthritis cases and healthy controls of the six-centre UK validation cohort, the UKRAG collection as described in detail in 2007 (2007 report)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2674282/"; rdfs:comment "SNPs at these loci were genotyped in an independent cohort of 5,063 rheumatoid arthritis cases and 3,849 healthy controls" . _:4aa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKRAG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21272; , ; ; "PMID:9853437"; "A multicentre, open, randomised trial at university and general hospitals across the United Kingdom that allocated patients aged 60–76 years with symptomless abdominal aortic aneurysms 4.0–5.5 cm in diameter to early elective open surgical repair or to ultrasonographic surveillance, comparing mortality, health service costs and quality of life, and following the natural history of small aneurysms in the surveillance group."; 1090; "U.K. Small Aneurysm Trial", "UKSAT", "United Kingdom Small Aneurysm Trial"; rdfs:label "UK Small Aneurysm Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21272 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4aa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21272; "abdominal aortic aneurysm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9853436+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 1090 patients aged 60-76 years, with symptomless abdominal aortic aneurysms 4.0-5.5 cm in diameter to undergo early elective open surgery (n=563) or ultrasonographic surveillance (n=527)." . _:4aa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7664011+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "University and general hospitals across the UK." . _:4aa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:9853437"; "Health service costs and quality of life for early elective surgery or ultrasonographic surveillance for small abdominal aortic aneurysms. UK Small Aneurysm Trial Participants."; "PMID:9853437", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9853437+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The UK Small Aneurysm Trial showed that surveillance and early prophylactic elective surgical repair had similar survival benefits." . _:4aa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre, open, randomised trial at university and general hospitals across the United Kingdom that allocated patients aged 60–76 years with symptomless abdominal aortic aneurysms 4.0–5.5 cm in diameter to early elective open surgical repair or to ultrasonographic surveillance, comparing mortality, health service costs and quality of life, and following the natural history of small aneurysms in the surveillance group."; "PMID:7664011", "PMID:9853436", "PMID:9853437"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4aa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1090; "patients with small symptomless abdominal aortic aneurysms randomised to early elective surgery (563) or ultrasonographic surveillance (527)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9853436+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 1090 patients aged 60-76 years, with symptomless abdominal aortic aneurysms 4.0-5.5 cm in diameter to undergo early elective open surgery (n=563) or ultrasonographic surveillance (n=527)." . _:4aaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKSAT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21279; , ; "PGS000086", "PMID:26503584"; "The testicular germ cell tumour case series coordinated at the Institute of Cancer Research in the United Kingdom, drawn from a UK study of familial testicular cancer and a national collection of testicular germ cell tumour cases treated in the UK, whose cases were recruited over about 20 years through the UK Testicular Cancer Collaboration, a group of oncologists and surgeons treating the disease across the UK, and used in genome-wide association studies of testicular cancer susceptibility."; 4009; "UKTCC"; ; rdfs:label "UK Testicular Cancer Collaboration"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21279 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4aab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21279; "testicular germ cell tumour"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4846317/fullTextXML"; rdfs:comment "For these 12 loci, we conducted a replication study (stage 3), genotyping an additional 4,009 TGCT cases and 4,066 controls." . _:4aac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2635/MediaObjects/41588_2013_BFng2635_MOESM33_ESM.pdf"; rdfs:comment "Cases were recruited via the UK Testicular Cancer Collaboration (see below), a group of oncologists and surgeons treating TGCT in the UK." . _:4aad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000086"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:4aae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26503584"; "Identification of four new susceptibility loci for testicular germ cell tumour."; "PMID:26503584", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4846317/fullTextXML"; rdfs:comment "Case recruitment was via the UK Testicular Cancer Collaboration, a group of oncologists and surgeons treating TGCT in the UK (Supplementary Note 1)." . _:4aaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The testicular germ cell tumour case series coordinated at the Institute of Cancer Research in the United Kingdom, drawn from a UK study of familial testicular cancer and a national collection of testicular germ cell tumour cases treated in the UK, whose cases were recruited over about 20 years through the UK Testicular Cancer Collaboration, a group of oncologists and surgeons treating the disease across the UK, and used in genome-wide association studies of testicular cancer susceptibility."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2635/MediaObjects/41588_2013_BFng2635_MOESM33_ESM.pdf", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4846317/fullTextXML"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ab02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4009; "UKTCC testicular germ-cell tumour cases in the 2015 replication stage"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4846317/fullTextXML"; rdfs:comment "For these 12 loci, we conducted a replication study (stage 3), genotyping an additional 4,009 TGCT cases and 4,066 controls." . _:4ab12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKTCC"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. The PGS Catalog id ULM is the Ulm prostate cancer case-control study of the PRACTICAL consortium (PMID:29892016, PMID:33623038). Every score that uses it is a cancer score, so the Catalog's name for it, Center of Excellence-Baden-Wuerttemberg Type 2 Diabetes Cohort, is wrong and is not carried over. Replaced by COHO:0002517 (Familial Prostate Cancer Study Ulm), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Center of Excellence-Baden-Wuerttemberg Type 2 Diabetes Cohort"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21287; , ; "PGS000733", "PMID:26387087"; "A prostate cancer case-control study run by the Institute of Human Genetics and the Department of Urology of Ulm University Hospital, Germany. Familial cases were identified through family-history questionnaires sent by collaborating urologists throughout Germany, sporadic cases came from radical prostatectomy series at the Ulm urology clinic, and controls were men from Ulm without prostate cancer. It is used for linkage and association studies of inherited prostate cancer susceptibility and contributes to the PRACTICAL consortium."; 702; 995; "Familial Prostate Cancer Study, University Hopsital of Ulm, Germany", "Prostate Cancer Genetics Project of Ulm", "ULM", "ULM_FPCS"; ; rdfs:label "Familial Prostate Cancer Study Ulm"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21287 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ab22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21287; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "familial cases (n=162): identified through questionnaires for family history by collaborating urologists all over Germany" . _:4ab32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "familial cases (n=162): identified through questionnaires for family history by collaborating urologists all over Germany" . _:4ab42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:4ab52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26387087"; "The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium."; "PMID:26387087", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4596899/fullTextXML"; rdfs:comment "Familial Prostate Cancer Study Ulm (ULM); UTAH Study (UTAH)" . _:4ab62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prostate cancer case-control study run by the Institute of Human Genetics and the Department of Urology of Ulm University Hospital, Germany. Familial cases were identified through family-history questionnaires sent by collaborating urologists throughout Germany, sporadic cases came from radical prostatectomy series at the Ulm urology clinic, and controls were men from Ulm without prostate cancer. It is used for linkage and association studies of inherited prostate cancer susceptibility and contributes to the PRACTICAL consortium."; "PMID:22457820", "PMID:26387087", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ab72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 702; "cases and population controls from Ulm used in a 2012 association study (analysed subset)"; "https://europepmc.org/api/getPdf?pmcid=PMC3311578"; rdfs:comment "controls Ulm 995 18 (1.8%) 1 (0.1%) 19 (1.9%) 976 (98.1%) ref. cases Ulmb 702 13 (1.9%) 0 (0%) 13 (1.9%) 689 (98.1%) 0.97 (0.44–2.08) 1.00" . _:4ab82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 995; "cases and population controls from Ulm used in a 2012 association study (analysed subset)"; "https://europepmc.org/api/getPdf?pmcid=PMC3311578"; rdfs:comment "controls Ulm 995 18 (1.8%) 1 (0.1%) 19 (1.9%) 976 (98.1%) ref. cases Ulmb 702 13 (1.9%) 0 (0%) 13 (1.9%) 689 (98.1%) 0.97 (0.44–2.08) 1.00" . _:4ab92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ULM"; . _:4aba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ULM_FPCS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The id is ambiguous in PGS005391: there the Catalog lists UM among ADGC datasets (next to UPITT, NIA-LOAD, TARCC, GENADA), and the source paper (PMID:42237039) uses 'UM' only for the University of Miami ('the University of Miami (UM)/Case Western Reserve University (CWRU)/Mt. Sinai School of Medicine (MSSM)'). That paper's own Munich sample is called 'The PAGES study', never UM. So in PGS005391 UM may be the Catalog's reuse of its Munich id for PAGES, or a mis-tag of UM/CWRU/MSSM (placeholder COHO:0002521). This could not be settled from the paper. UM ('University of Munich') is not the university but, in PGS000823's source GWAS (Jonsson et al. 2013, TREM2), the Munich sample of Alzheimer's disease patients from the memory clinic of the Department of Psychiatry, University of Munich (LMU), with population controls randomly selected from Munich. The 2026 consensus meta-analysis supplement describes exactly this sample, in the same sentences, as 'The PAGES study'. COHO already has PAGES as COHO:0000720 'Phenomics and Genomics Sample', whose definition already includes 'Alzheimer's disease patients from the psychiatric memory clinic' and Munich controls. So UM should become an acronym of COHO:0000720. 'University of Munich' is not added as a synonym: it is the institution's name. No other COHO term carries the acronym UM. PAGES is already shared with COHO:0000721 (Paediatric Asthma Gene Environment Study), which is unaffected. See problems for the PGS005391 ambiguity: if the curator reads that use as the University of Miami datasets, the UM tag there belongs with UM/VU/MSSM (COHO:0002521), with a shared-acronym note on both terms. Replaced by COHO:0000720 (Phenomics and Genomics Sample), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University of Munich"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. UMC ('University Medical Center Utrecht') is the PGS Catalog's id for samples that came from UMC Utrecht without a study name, and it covers at least two different sets. In the bladder cancer GWAS it is a pooled Dutch control group: companions of neurology outpatients and controls from a schizophrenia GWAS. In the intracranial aneurysm scores it is the Utrecht intracranial aneurysm patients (UMC Utrecht biobank data). Neither is a cohort with a name or recruitment of its own; the id is the hospital, so it is not a cohort. None of the COHO matches in the evidence is this sample: ALS Utrecht (COHO:0000506) is a 158-person MRI sample, and the Nijmegen Biomedical Study (COHO:0000128, acronym NBS) is the other Dutch control set in the bladder GWAS, which the UMC controls extended but are not part of. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University Medical Center Utrecht"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. UMN is the PGS Catalog's id for the systemic lupus erythematosus cases and controls that the University of Minnesota contributed to the multi-ancestry LLAS2 sample of PMID:22523428. The paper's Supplementary Table S1 gives the source only as \"UMN (University of Minnesota, USA)\" (https://ars.els-cdn.com/content/image/1-s2.0-S000349672418630X-mmc1.pdf), with no study name, design or recruitment of its own; it is one institution among some twenty sample sources. The two Europe PMC hits for 'University of Minnesota study' (a 1978 surgical follow-up and the Colon Cancer Control Study) have nothing to do with the id. Not a cohort; no COHO term matches. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University of Minnesota study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21297; , ; ; "PGS000823", "PMID:21460841"; "A case-control collection of late-onset Alzheimer's disease, whose cases met NINCDS-ADRDA criteria for probable or definite Alzheimer's disease with onset after age 60 and whose controls are cognitively healthy, unrelated people from the same catchment areas frequency-matched by age and sex, ascertained at the University of Miami, Vanderbilt University (later Case Western Reserve University) and Mount Sinai School of Medicine, including autopsy-confirmed cases and controls mainly from Mount Sinai; it is one of the datasets of the Alzheimer's Disease Genetics Consortium."; 1177; 1126; "UM/CWRU/MSSM", "UM/VU/MSSM", "UMVUMSS", "University of Miami Hussman Institute for Human Genomics/Vanderbilt University Center for Human Genetics Research/Mount Sinai School of Medicine"; ; rdfs:label "University of Miami/Vanderbilt University/Mt. Sinai School of Medicine"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21297 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4abb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21297; "Alzheimer's disease"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "Each affected individual met NINCDS-ADRDA criteria for probably or definite Alzheimer’s disease (G. McKhann et al., 1984; G. M. McKhann et al., 2011) with age at onset greater than 60 years" . _:4abc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2802/MediaObjects/41588_2013_BFng2802_MOESM27_ESM.pdf"; rdfs:comment "The UM/VU/MSSM dataset contains 1,186 cases and 1,135 CNEs (new and previously published) [15, 16, 17, 18] ascertained at the University of Miami, Vanderbilt University and Mt. Sinai School of Medicine, including 409 autopsy-confirmed cases and 136 controls, primarily from the Mt. Sinai School of Medicine [19]." . _:4abd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000823"; "The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study."; "PMID:29555425" . _:4abe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21460841"; "Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease."; "PMID:21460841", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.801/MediaObjects/41588_2011_BFng801_MOESM5_ESM.pdf"; rdfs:comment "University of Miami/Vanderbilt University/Mt. Sinai School of Medicine (UM/VU/MSSM): The UM/VU/MSSM dataset contains 1,186 cases and 1,135 CNEs (new and previously published)15-18 ascertained at the University of Miami, Vanderbilt University and Mt. Sinai School of Medicine, including 409 autopsy-confirmed cases and 136 controls, primarily from the Mt. Sinai School of Medicine" . _:4abf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control collection of late-onset Alzheimer's disease, whose cases met NINCDS-ADRDA criteria for probable or definite Alzheimer's disease with onset after age 60 and whose controls are cognitively healthy, unrelated people from the same catchment areas frequency-matched by age and sex, ascertained at the University of Miami, Vanderbilt University (later Case Western Reserve University) and Mount Sinai School of Medicine, including autopsy-confirmed cases and controls mainly from Mount Sinai; it is one of the datasets of the Alzheimer's Disease Genetics Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2802/MediaObjects/41588_2013_BFng2802_MOESM27_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ac02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1177; "late-onset Alzheimer's disease cases and cognitively normal elderly controls of the dataset, as the ADGC described it in 2024 (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "The UM/CWRU/MSSM dataset (formerly UM/VU/MSSM (Beecham et al., 2009; Edwards et al., 2010; Najet al.,2010; Scott etal., 2001)⁠) contains 1,177 cases and 1,126 CNEs ascertained at the University of Miami, Case Western Reserve University and Mt. Sinai School of Medicine, including 409 autopsy-confirmed cases and 136 controls, primarily from the Mt. Sinai School of Medicine" . _:4ac12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1126; "late-onset Alzheimer's disease cases and cognitively normal elderly controls of the dataset, as the ADGC described it in 2024 (no total stated)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41380-024-02838-5/MediaObjects/41380_2024_2838_MOESM1_ESM.pdf"; rdfs:comment "The UM/CWRU/MSSM dataset (formerly UM/VU/MSSM (Beecham et al., 2009; Edwards et al., 2010; Najet al.,2010; Scott etal., 2001)⁠) contains 1,177 cases and 1,126 CNEs ascertained at the University of Miami, Case Western Reserve University and Mt. Sinai School of Medicine, including 409 autopsy-confirmed cases and 136 controls, primarily from the Mt. Sinai School of Medicine" . _:4ac22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UM/CWRU/MSSM"; . _:4ac32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UM/VU/MSSM"; . _:4ac42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UMVUMSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21308; , ; ; "PGS000801", "PMID:25105248"; "The North Carolina site of the Cancer Care Outcomes Research and Surveillance (CanCORS) Consortium, run by the University of North Carolina at Chapel Hill: a prospective population-based cohort of patients with colorectal cancer diagnosed between April 2003 and January 2005 in counties of central and eastern North Carolina, United States, identified by rapid case ascertainment through the North Carolina Central Cancer Registry."; 1013; "UNC-CanCORS", "UNCCanCORS", "UNC_CanCORS"; ; rdfs:label "University of North Carolina CanCORS study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21308 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ac52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21308; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "UNC_CanCORS assembled a prospective population-based cohort of colorectal cancer patients from a 33-county area in North Carolina diagnosed between April 2003 and January 2005." . _:4ac62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf"; rdfs:comment "UNC_CanCORS assembled a prospective population-based cohort of colorectal cancer patients from a 33-county area in North Carolina diagnosed between April 2003 and January 2005." . _:4ac72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000801"; "Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies."; "PMID:31038671" . _:4ac82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25105248"; "Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A."; "PMID:25105248", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4180879/fullTextXML"; rdfs:comment "The second GWAS of African American samples (n = 6,597) (Supplementary Table 2) were identified from the MEC, CCFR, the Southern Community Cohort Study (SCCS), the MD Anderson Cancer Center, the University of North Carolina CanCORS study (UNCCanCORS) and Rectal Cancer Study (UNC-Rectal), and from the Prostate, Lung, Colorectal and Ovarian Cancer Screening (PLCO) Trial." . _:4ac92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The North Carolina site of the Cancer Care Outcomes Research and Surveillance (CanCORS) Consortium, run by the University of North Carolina at Chapel Hill: a prospective population-based cohort of patients with colorectal cancer diagnosed between April 2003 and January 2005 in counties of central and eastern North Carolina, United States, identified by rapid case ascertainment through the North Carolina Central Cancer Registry."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms5613/MediaObjects/41467_2014_BFncomms5613_MOESM440_ESM.pdf", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3654676/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4aca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1013; "colorectal cancer patients enrolled at the UNC CanCORS site (Table 2), 2005"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3654676/unicode"; rdfs:comment "North Carolina (UNC)22 eastern/central counties‡ University of North Carolina* -- 1013" . _:4acb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UNC-CanCORS"; . _:4acc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UNCCanCORS"; . _:4acd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UNC_CanCORS"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. UNC-Rectal is the North Carolina Rectal Cancer Study. This is phase II of the North Carolina Colon Cancer Study (NCCCS-II), which COHO already has as COHO:0000597. That term's definition covers phase II: sigmoid, rectosigmoid and rectal cancer cases, May 2001 to September 2006. The two descriptions match point for point. NCCCS-II (https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3111915/unicode): \"The North Carolina Colon Cancer Study-Phase II (NCCCS-II) was a population-based case-control study of incident distal large bowel cancer (rectal, recto-sigmoid, or sigmoid cancer) in 33 counties in the central and eastern part of North Carolina.\", with cases \"identified through the rapid case ascertainment system of the North Carolina Central Cancer Registry between May 2001 and September 2006\". UNC-Rectal (E1177.17-E1177.18): the same 33-county area, the same three tumour sites, the same registry, the same dates, and controls from motor-vehicle and Medicare records. Add the catalog's name (typo 'Noth' included, as the catalog tags it) and the study's own names as synonyms, and UNC-Rectal as an acronym. PMID:26683305 also abbreviates this study as 'UNC'. That abbreviation is a paper's shorthand, not the study's acronym or a catalog tag, and COHO:0001179 already carries it, so it is not proposed. The placeholder COHO:0002523 is then a duplicate of COHO:0000597. Replaced by COHO:0000597 (North Carolina Colon Cancer Study), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University of Noth Carolina Rectal Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21318; , ; ; "PMID:25031287"; "A cohort study of patients with non-disabling cerebral ischaemia of arterial origin referred to the University Medical Center Utrecht, the Netherlands, and included between 1994 and 2009 in the SMART study or the Utrecht Stroke Database, whose patients were genotyped with the Illumina Immunochip and followed up for new vascular events in order to test whether genetic information improves prognostic models for new ischaemic and haemorrhagic events. Its genotyped patients were also the Utrecht Immunochip case sample of genetic association studies of ischaemic stroke."; 1125; "PROMISe", "PROMISe Study", "PROMISe study", "UNISS", "Utrecht ImmunoChip Study", "Utrecht, The Netherlands ImmunoChip Study Samples"; rdfs:label "Prognostic Modelling in Ischaemic Stroke study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21318 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ace2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21318; "cerebral ischemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4408031/fullTextXML"; rdfs:comment "We therefore included only patients with cerebral ischemia of arterial origin." . _:4acf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4408031/fullTextXML"; rdfs:comment "We collected data of patients with non-disabling cerebral ischemia of arterial origin, who were referred to the University Medical Center Utrecht, The Netherlands and were included in the SMART (Second Manifestations of Arterial disease) study, or the Utrecht Stroke Database (USDB)." . _:4ad02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25031287"; "Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12."; "PMID:25031287", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4150131/fullTextXML"; rdfs:comment "Participating centers were based in Belgium, Germany, the Netherlands (the PROMISe Study), Poland, Sweden, and the UK (2 cohorts, one from London [Imperial College; the BRAINS study] and one from Glasgow)." . _:4ad12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort study of patients with non-disabling cerebral ischaemia of arterial origin referred to the University Medical Center Utrecht, the Netherlands, and included between 1994 and 2009 in the SMART study or the Utrecht Stroke Database, whose patients were genotyped with the Illumina Immunochip and followed up for new vascular events in order to test whether genetic information improves prognostic models for new ischaemic and haemorrhagic events. Its genotyped patients were also the Utrecht Immunochip case sample of genetic association studies of ischaemic stroke."; "PMID:18264013", "PMID:25031287", "PMID:25906364", "PMID:26708676"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ad22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1125; "PROMISe patients available in the 1994-2009 cohort for the 2015 prognostic study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4408031/fullTextXML"; rdfs:comment "For the current study, the data of 1125 patients were available." . _:4ad32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROMISe"; . _:4ad42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UNISS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. UOF is the PGS Catalog's id for 145 African-ancestry DNA samples (61 with type 1 diabetes, 54 controls, 30 with type 2 diabetes) from the University of Florida Diabetes Institute. PMID:30659077 used them as its independent replication group, and PGS sample set PSS000031 carries only this id. The paper names the source only as the University of Florida (E1179.7, E1179.13) and gives no study name, design or recruitment period. The paper's named collections (T1DGC, SEARCH, GoKinD, Barbara Davis Center) are separate sources. Not a cohort. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete University of Florida"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21326; , ; "PGS003972", "PMID:37845353"; "A prospective population-based case-control study of abdominal aortic aneurysm in Uppsala, Sweden, in which all 65-year-old men identified through the National Population Registry were invited to an ultrasound examination; it aims to find biomarkers for the cause and progression of abdominal aortic aneurysm and to investigate how people with and without an aneurysm experience their health."; 247; "UppsalaAAA"; ; rdfs:label "Uppsala Abdominal Aortic Aneurysm Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21326 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ad52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21326; "abdominal aortic aneurysm"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; rdfs:comment "A prospective population-based case-control study which aims to find biomarkers for the cause and progression of AAA and investigate how persons with or without an AAA experience their health." . _:4ad62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; rdfs:comment "Additional validation cohorts for PRS: Additional AAA case cohorts from Oxford (UK), Uppsala (Sweden) and Utrecht (Netherlands) became available during the conduct of the study." . _:4ad72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS003972"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353" . _:4ad82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37845353"; "Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target."; "PMID:37845353", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; rdfs:comment "UppsalaAAA: Uppsala Abdominal Aortic Aneurysm Cohort Study, part of the collection Swedish Cohort Consortium (Cohorts.se)." . _:4ad92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based case-control study of abdominal aortic aneurysm in Uppsala, Sweden, in which all 65-year-old men identified through the National Population Registry were invited to an ultrasound examination; it aims to find biomarkers for the cause and progression of abdominal aortic aneurysm and to investigate how people with and without an aneurysm experience their health."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ada2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 247; "AAA cases from UppsalaAAA genotyped for PRS validation set 1 of one GWAS (analysed subset, cases only)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-023-01510-y/MediaObjects/41588_2023_1510_MOESM1_ESM.pdf"; rdfs:comment "This set includes 808 cases from UKAGS and 4 cases from VIVA that were not used in the meta-analysis, 247 cases from UppsalaAAA, 71 cases from OxAAA, and 31 5810 controls from UKBB." . _:4adb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UppsalaAAA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21334; , ; "PMID:40029246"; "A prospective, multicentre observational study of late radiotherapy toxicity that recruited men with prostate cancer without distant metastases who were scheduled for curative-intent radiotherapy (external beam radiotherapy with or without a brachytherapy boost, or brachytherapy alone) between April 2016 and March 2019 at two hospitals in the United States, the University of Rochester Wilmot Cancer Institute and the Medical College of Wisconsin; participants were enrolled before or in the first week of radiotherapy, followed with patient-reported outcomes (the Expanded Prostate Index Composite with added radiation-related questions) at the end of radiotherapy, at 6 months and yearly for up to four years, and genotyped genome-wide, to validate predictive models and biomarkers of toxicity such as hematuria."; 256; "RGC-URWCI cohort", "URWCI"; rdfs:label "URWCI study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21334 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4adc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21334; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8986577/"; rdfs:comment "The URWCI study recruited patients with prostate cancer between April 2016 and March 2019 from two hospitals in the United States (University of Rochester Wilmot Cancer Institute and the Medical College of Wisconsin)." . _:4add2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8986577/"; rdfs:comment "The URWCI study recruited patients with prostate cancer between April 2016 and March 2019 from two hospitals in the United States (University of Rochester Wilmot Cancer Institute and the Medical College of Wisconsin)." . _:4ade2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40029246"; "A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer."; "PMID:40029246", "https://pmc.ncbi.nlm.nih.gov/articles/PMC12048210/"; rdfs:comment "We show that it is associated with susceptibility to development of hematuria and other cystitis symptoms in the prospective, multicenter REQUITE and URWCI studies whose primary aim was to validate predictive models and biomarkers of late toxicity in patients treated with curative radiotherapy." . _:4adf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, multicentre observational study of late radiotherapy toxicity that recruited men with prostate cancer without distant metastases who were scheduled for curative-intent radiotherapy (external beam radiotherapy with or without a brachytherapy boost, or brachytherapy alone) between April 2016 and March 2019 at two hospitals in the United States, the University of Rochester Wilmot Cancer Institute and the Medical College of Wisconsin; participants were enrolled before or in the first week of radiotherapy, followed with patient-reported outcomes (the Expanded Prostate Index Composite with added radiation-related questions) at the end of radiotherapy, at 6 months and yearly for up to four years, and genotyped genome-wide, to validate predictive models and biomarkers of toxicity such as hematuria."; "PMID:35077710", "PMID:40029246"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ae02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 256; "men with prostate cancer enrolled in the URWCI study as counted in the 2022 ACE-inhibitor analysis (the only count stated; possibly the analysed subset)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC8986577/"; rdfs:comment "Prostate cancer patients undergoing potentially-curative radiotherapy were enrolled onto two multi-center observational studies, URWCI (N=256) and REQUITE (N=1,437)." . _:4ae12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "URWCI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21341; , ; ; "PMID:40059621"; "A prospective observational cohort, enrolling since 1986, of consenting United States military members, retirees and beneficiaries aged 18 years or older with HIV, who are seen about every six months at participating US military treatment facilities, with systematic collection of demographic characteristics, medication use, laboratory data and medically confirmed clinical events."; "The acronym NHS also denotes Nurses' Health Study (COHO:0000456); this term is US Military HIV Natural History Study."@en; 5758; "Department of Defense Human Immunodeficiency Virus Natural History Study", "NHS", "U.S. Military HIV Natural History Study", "US military HIV Natural History Study", "US-HIV-NHS"; rdfs:label "US Military HIV Natural History Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21341 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ae22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21341; "HIV infection"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6886375/"; rdfs:comment "Since that time, active-duty members diagnosed with HIV infection and evaluated at participating military treatment facilities (MTFs) are offered enrollment in the NHS, an Institutional Review Board-approved protocol with written informed consent." . _:4ae32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3119192/fullTextXML"; rdfs:comment "Individuals are seen approximately every 6 months at participating United States military treatment facilities." . _:4ae42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40059621"; "Antiretroviral Therapy Within 2 Years of HIV Acquisition Is Associated With Fewer Viral Blips: A Retrospective Analysis of More Than 20 Years of Data From the US Military HIV Natural History Study."; "PMID:40059621", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40059621+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We analyzed participants from the US Military HIV Natural History Study with an estimated human immunodeficiency virus (HIV) seroconversion date, viral suppression ≤400 copies/mL within 1 year after starting ART, and at least 3 HIV RNA measurements after suppression." . _:4ae52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective observational cohort, enrolling since 1986, of consenting United States military members, retirees and beneficiaries aged 18 years or older with HIV, who are seen about every six months at participating US military treatment facilities, with systematic collection of demographic characteristics, medication use, laboratory data and medically confirmed clinical events."; "PMID:21575228"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ae62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5758; "subjects enrolled in the NHS from 1986 through 2015 (1986-2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31778201+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 5,758 subjects were enrolled between 1986 and 2015, of whom 92% were male with a median age of 28 years, and 45% were African-American, 42% Caucasian, and 13% Hispanic/other." . _:4ae72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHS"; . _:4ae82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "US-HIV-NHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21349; , ; "PGS000722", "PMID:22113997"; "A population-based case-control study of renal cell carcinoma run by the US National Cancer Institute in the Chicago (Cook County) and Detroit (Wayne, Macomb and Oakland counties) metropolitan areas, chosen for their high proportion of African American residents. Cases were residents aged 20 to 79 newly diagnosed with histologically confirmed renal cell carcinoma between 2002 and 2007; controls were drawn from motor vehicle and Medicare records and frequency-matched to the cases by age, race and sex, and participants were interviewed about their medical history, tobacco use, occupation, diet, family history of cancer and other factors."; 1217; 1235; "National Cancer Institue U.S. Kidney Cancer Study", "National Cancer Institute United States Kidney Cancer Study", "USKC", "United States Kidney Cancer"; ; rdfs:label "US Kidney Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21349 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ae92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21349; "renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2883149/fullTextXML"; rdfs:comment "In a population-based case–control study, unconditional logistic regression was used to calculate the association between RCC risk and a family history of cancer among 1217 RCC cases and 1235 controls." . _:4aea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; rdfs:comment "National Cancer Institute United States Kidney Cancer Study (USKC) This population-based case-control study of RCC was conducted in the metropolitan areas of Chicago (Cook County) and Detroit (Wayne, Macomb and Oakland counties), two areas of the United States with a high proportion of African American residents." . _:4aeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000722"; "Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers."; "PMID:32596635" . _:4aec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22113997"; "The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma."; "PMID:22113997", "https://europepmc.org/api/getPdf?pmcid=PMC3277315"; rdfs:comment "We genotyped 59 tagged SNPs in 2278 RCC cases and 3719 controls from two nested case–control studies [the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial and the Alpha- Tocopherol, Beta-Carotene Cancer Prevention (ATBC) study in Finland], a hospital-based Central and Eastern European RCC (CEERCC) case–control study and Caucasians from the United States Kidney Cancer (USKC) population-based case–control study (see Materials and Methods and Fig. 1)." . _:4aed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based case-control study of renal cell carcinoma run by the US National Cancer Institute in the Chicago (Cook County) and Detroit (Wayne, Macomb and Oakland counties) metropolitan areas, chosen for their high proportion of African American residents. Cases were residents aged 20 to 79 newly diagnosed with histologically confirmed renal cell carcinoma between 2002 and 2007; controls were drawn from motor vehicle and Medicare records and frequency-matched to the cases by age, race and sex, and participants were interviewed about their medical history, tobacco use, occupation, diet, family history of cancer and other factors."; "https://europepmc.org/api/getPdf?pmcid=PMC3277315", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.723/MediaObjects/41588_2011_BFng723_MOESM3_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4aee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1217; "Participants recruited to the US Kidney Cancer Study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2883149/fullTextXML"; rdfs:comment "Thus, 1217 cases (77.5% of those we attempted to recruit) participated in the study." . _:4aef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1235; "Participants recruited to the US Kidney Cancer Study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2883149/fullTextXML"; rdfs:comment "Thus, 1235 eligible controls (54.4% of those we attempted to recruit) participated." . _:4af02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "USKC"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-27. US PA GWAS dataset is the label the aneurysm meta-GWAS of PMID:27899403 gives its US discovery dataset of Geisinger patients with MyCode controls, not a named study. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete US PA GWAS dataset"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21358; , ; "PGS000788", "PMID:26956414"; "A case-control study of chronic lymphocytic leukaemia in Utah, United States, whose prevalent cases came from the Huntsman Cancer Hospital's haematology clinics or were identified in the Utah Cancer Registry and verified by medical records and pathology reports, and whose controls, from the same area, were frequency-matched to the cases by sex and birth cohort using the Utah Population Database; it was genotyped genome-wide for studies of genetic susceptibility to the disease."; "The acronym UTAH also denotes UTAH Study (COHO:0002533); this term is Utah Chronic Lymphocytic Leukemia Study."@en; 355; 420; "UTAH", "Utah Chronic Lymphocytic Leukemia GWAS"; ; rdfs:label "Utah Chronic Lymphocytic Leukemia Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21358 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4af12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21358; "chronic lymphocytic leukemia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah Chronic Lymphocytic Leukemia Study UTAH 355 420 Mixed: clinic- and population- based cases and controls, USA Prevalent cases from Huntsman Cancer Hospital's Hematology Clinics" . _:4af22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah Chronic Lymphocytic Leukemia Study UTAH 355 420 Mixed: clinic- and population- based cases and controls, USA" . _:4af32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000788"; "Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction."; "PMID:33247094" . _:4af42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26956414"; "Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia."; "PMID:26956414", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4786871/unicode"; rdfs:comment "Our discovery meta-analysis included four CLL GWAS of European ancestry: National Cancer Institute NHL GWAS (NCI GWAS), Utah Chronic Lymphocytic Leukemia GWAS (UTAH), Genetic Epidemiology of CLL Consortium GWAS (GEC), and Molecular Epidemiology of Non-Hodgkin Lymphoma GWAS (UCSF)." . _:4af52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of chronic lymphocytic leukaemia in Utah, United States, whose prevalent cases came from the Huntsman Cancer Hospital's haematology clinics or were identified in the Utah Cancer Registry and verified by medical records and pathology reports, and whose controls, from the same area, were frequency-matched to the cases by sex and birth cohort using the Utah Population Database; it was genotyped genome-wide for studies of genetic susceptibility to the disease."; "PMID:28165464", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4af62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 355; "CLL cases and controls with DNA available"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah Chronic Lymphocytic Leukemia Study UTAH 355 420 Mixed: clinic- and population- based cases and controls, USA" . _:4af72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 420; "CLL cases and controls with DNA available"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah Chronic Lymphocytic Leukemia Study UTAH 355 420 Mixed: clinic- and population- based cases and controls, USA" . _:4af82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UTAH"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21367; , , , ; "PMID:23770605"; "A collaborative case-control study of chronic lymphocytic leukemia with sites in Utah, USA, and Sheffield, UK, whose prevalent cases came from the hematology clinics of the Huntsman Cancer Hospital and the Utah Cancer Registry, verified by medical records and pathology reports, and from National Health Service hospitals in the North Trent region of the UK, and whose controls were ascertained from the Utah Population Database; its cases and controls, genotyped at the University of Utah, were a replication series of the genome-wide association studies of chronic lymphocytic leukemia published in 2013 and 2016."; 236; 227; "UTAH-SHEFFIELD", "Utah-Sheffield", "Utah/Sheffield Chronic Lymphocytic Leukemia study"; rdfs:label "Utah/Sheffield Chronic Lymphocytic Leukemia Collaborative Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21367 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4af92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21367; "chronic lymphocytic leukemia"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah/Sheffield Chronic Lymphocytic Leukemia Collaborative Study UTAH- SHEFFIELD 236 227 Mixed: clinic- and population- based cases and controls UTAH: Prevalent cases from Huntsman Cancer Hospital's Hematology Clinics and Prevalent cases identified in the Utah Cancer Registry, verified by medical records and pathology report. SHEFFIELD: Prevalent cases from National Health Service Hospitals in the North Trent region of the UK Controls ascertained from the Utah Population Database" . _:4afa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2652/MediaObjects/41588_2013_BFng2652_MOESM1_ESM.pdf"; rdfs:comment "Partial support for data collection in Sheffield, UK was made possible by funds from Yorkshire Cancer Research." . _:4afb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2652/MediaObjects/41588_2013_BFng2652_MOESM1_ESM.pdf"; rdfs:comment "Partial support for data collection at the Utah site was made possible by the Utah Population Database (UPDB) and the Utah Cancer Registry (UCR)." . _:4afc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23770605"; "Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia."; "PMID:23770605", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3729927/"; rdfs:comment "In stage 3, 10 SNPs in the most promising loci and one SNP from an established locus were taken forward for de novo replication in an additional 392 cases and 4561 controls from the NCI replication study (NCI Rep) and from the Utah/Sheffield Chronic Lymphocytic Leukemia study (Utah-Sheffield) (Supplementary Table 1)." . _:4afd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative case-control study of chronic lymphocytic leukemia with sites in Utah, USA, and Sheffield, UK, whose prevalent cases came from the hematology clinics of the Huntsman Cancer Hospital and the Utah Cancer Registry, verified by medical records and pathology reports, and from National Health Service hospitals in the North Trent region of the UK, and whose controls were ascertained from the Utah Population Database; its cases and controls, genotyped at the University of Utah, were a replication series of the genome-wide association studies of chronic lymphocytic leukemia published in 2013 and 2016."; "PMID:23770605", "PMID:26956414", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2652/MediaObjects/41588_2013_BFng2652_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4afe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 236; "Utah/Sheffield CLL cases and controls with DNA available in 2016"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah/Sheffield Chronic Lymphocytic Leukemia Collaborative Study UTAH- SHEFFIELD 236 227 Mixed: clinic- and population- based cases and controls UTAH: Prevalent cases from Huntsman Cancer Hospital's Hematology Clinics and Prevalent cases identified in the Utah Cancer Registry, verified by medical records and pathology report. SHEFFIELD: Prevalent cases from National Health Service Hospitals in the North Trent region of the UK Controls ascertained from the Utah Population Database" . _:4aff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 227; "Utah/Sheffield CLL cases and controls with DNA available in 2016"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fncomms10933/MediaObjects/41467_2016_BFncomms10933_MOESM1570_ESM.pdf"; rdfs:comment "Utah/Sheffield Chronic Lymphocytic Leukemia Collaborative Study UTAH- SHEFFIELD 236 227 Mixed: clinic- and population- based cases and controls UTAH: Prevalent cases from Huntsman Cancer Hospital's Hematology Clinics and Prevalent cases identified in the Utah Cancer Registry, verified by medical records and pathology report. SHEFFIELD: Prevalent cases from National Health Service Hospitals in the North Trent region of the UK Controls ascertained from the Utah Population Database" . _:4b002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UTAH-SHEFFIELD"; . _:4b012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Utah-Sheffield"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21377; , ; ; "PGS000733", "PMID:26387087"; "A prostate cancer case-control study from Utah, United States, and part of the PRACTICAL consortium. Its cases are prostate cancer cases sampled from extended Utah high-risk pedigrees, chosen so that no two are closely related. Its controls come from other high-risk pedigree studies and have no cancer, no link to a prostate cancer kindred and no first-degree relative with prostate cancer."; "The acronym UTAH also denotes Utah Chronic Lymphocytic Leukemia Study (COHO:0002531); this term is UTAH Study."@en; 455; 256; "The Utah Study", "UTAH", "UTAHSTUD"; ; rdfs:label "UTAH Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21377; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "All 455 prostate cancer cases were drawn from the set of sampled prostate cancer cases belonging to extended Utah high-risk pedigrees." . _:4b032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4596899/"; rdfs:comment "UTAH USA 245 440 62.6 – – 51.4 16.1 – 4.7" . _:4b042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:4b052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26387087"; "The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium."; "PMID:26387087", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4596899/"; rdfs:comment "UTAH USA 245 440 62.6 – – 51.4 16.1 – 4.7" . _:4b062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prostate cancer case-control study from Utah, United States, and part of the PRACTICAL consortium. Its cases are prostate cancer cases sampled from extended Utah high-risk pedigrees, chosen so that no two are closely related. Its controls come from other high-risk pedigree studies and have no cancer, no link to a prostate cancer kindred and no first-degree relative with prostate cancer."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4596899/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 455; "UTAH prostate pedigree cases and controls in the 2014 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "All 455 prostate cancer cases were drawn from the set of sampled prostate cancer cases belonging to extended Utah high-risk pedigrees." . _:4b082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 256; "UTAH prostate pedigree cases and controls in the 2014 profile"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3094/MediaObjects/41588_2014_BFng3094_MOESM58_ESM.pdf"; rdfs:comment "The 256 controls were selected from other high-risk pedigree studies as: 1) not related to a prostate kindred, 2) not having cancer, 3) not having a first degree relative with prostate cancer." . _:4b092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UTAH"; . _:4b0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UTAHSTUD"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. UVRIGPC is the MRC/UVRI General Population Cohort of Kyamulibwa, Uganda, as the lipids consortium's study table lists it (PMID:24097068). Replaced by COHO:0000345 (Uganda General Population Cohort), which now carries this term's names. Found by a search for the cohorts behind placeholder names with no known paper, 2026-09-27."@en; rdfs:label "obsolete UVRIGPC"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21387; , ; ; "PGS002269", "PMID:26691988"; "A combined age-related macular degeneration case-control sample contributed by the UWA, LEI & Flinders study group to the International AMD Genomics Consortium. Its participants were recruited from the population (UWA) and from ophthalmology clinics (LEI and Flinders), and AMD was graded with the international classification system."; 2493; 3967; "UWALF"; ; rdfs:label "UWA, LEI & Flinders"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21387 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21387; "age-related macular degeneration"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4886254/"; rdfs:comment "AMD cases were drawn from patients presenting to ophthalmology clinics across Australia (in particular the Lions Eye Institute, Western Australia; the Launceston Eye Institute, Tasmania; and the Flinders Medical Centre, South Australia) as well as from the population-based Blue Mountains Eye Study (BMES)6,30." . _:4b0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4886254/"; rdfs:comment "AMD cases were drawn from patients presenting to ophthalmology clinics across Australia (in particular the Lions Eye Institute, Western Australia; the Launceston Eye Institute, Tasmania; and the Flinders Medical Centre, South Australia) as well as from the population-based Blue Mountains Eye Study (BMES)6,30." . _:4b0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002269"; "Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data."; "PMID:35149155" . _:4b0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26691988"; "A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants."; "PMID:26691988", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "The UWA, LEI & Flinders group acknowledges financial support for participant recruitment and sample processing provided by the National Health and Medical Research Council (NHMRC) of Australia (#1023911), the Ophthalmic Research Institute of Australia, the BrightFocus Foundation and a Ramaciotti Establishment Grant." . _:4b0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A combined age-related macular degeneration case-control sample contributed by the UWA, LEI & Flinders study group to the International AMD Genomics Consortium. Its participants were recruited from the population (UWA) and from ophthalmology clinics (LEI and Flinders), and AMD was graded with the international classification system."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2493; "unrelated advanced AMD cases and controls of the study in the IAMDGC GWAS after quality control (2016)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "UWA, LEI & Flinders 2 1,040 432 0 2,493 3,967" . _:4b112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3967; "unrelated advanced AMD cases and controls of the study in the IAMDGC GWAS after quality control (2016)"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3448/MediaObjects/41588_2016_BFng3448_MOESM1_ESM.pdf"; rdfs:comment "UWA, LEI & Flinders 2 1,040 432 0 2,493 3,967" . _:4b122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UWALF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21396, _:genid-371333f489424440b12a13b9d98ced822608-genid21398; , ; ; "PMID:35170738"; "A randomized, placebo-controlled smoking cessation trial of the University of Wisconsin Transdisciplinary Tobacco Use Research Center, run at the University of Wisconsin Center for Tobacco Research and Intervention with participants recruited in Madison and Milwaukee, Wisconsin, United States, in which adults who smoked 10 or more cigarettes a day and were motivated to quit were randomly assigned to placebo, nicotine patch, nicotine lozenge, sustained-release bupropion or a combination, and whose genotyped participants are used in genetic studies of nicotine dependence and smoking cessation."; 1504; "TTURC", "TTURC study", "Transdisciplinary Tobacco Use Research Centers Study", "UW-TTURC", "UW-TTURC trial", "University of Wisconsin Transdisciplinary Tobacco Use Research Center", "University of Wisconsin-Transdisciplinary Tobacco Use Research Cente", "University of Wisconsin-Transdisciplinary Tobacco Use Research Center", "Wisconsin TTURC Cessation Trial"; rdfs:label "University of Wisconsin Transdisciplinary Tobacco Use Research Center Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21396 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21398 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21396; "cigarette smoking"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35170738+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Study participants came from the Transdisciplinary Tobacco Use Research Centers (TTURCs) Study (1091 smokers of European descent), and the Genetically Informed Smoking Cessation Trial (GISC) Study (501 smokers of European descent)." . _:4b142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21398; "nicotine dependence"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4930126/fullTextXML"; rdfs:comment "UW-TTURC participants were recruited for nicotine dependence and smoking cessation treatment clinical trials in Madison and Milwaukee, Wisconsin beginning in 2001" . _:4b152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4930126/fullTextXML"; rdfs:comment "UW-TTURC participants were recruited for nicotine dependence and smoking cessation treatment clinical trials in Madison and Milwaukee, Wisconsin beginning in 2001" . _:4b162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35170738"; "The Promise of Polygenic Risk Prediction in Smoking Cessation: Evidence From Two Treatment Trials."; "PMID:35170738", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9575976/"; rdfs:comment "Study participants came from the Transdisciplinary Tobacco Use Research Centers (TTURCs) Study (1091 smokers of European descent), and the Genetically Informed Smoking Cessation Trial (GISC) Study (501 smokers of European descent)." . _:4b172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized, placebo-controlled smoking cessation trial of the University of Wisconsin Transdisciplinary Tobacco Use Research Center, run at the University of Wisconsin Center for Tobacco Research and Intervention with participants recruited in Madison and Milwaukee, Wisconsin, United States, in which adults who smoked 10 or more cigarettes a day and were motivated to quit were randomly assigned to placebo, nicotine patch, nicotine lozenge, sustained-release bupropion or a combination, and whose genotyped participants are used in genetic studies of nicotine dependence and smoking cessation."; "PMID:26440539", "PMID:35170738", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3433845/unicode"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1504; "adults randomised in the trial"; "PMID:19884613"; rdfs:comment "One thousand five hundred four adults who smoked at least 10 cigarettes per day during the past 6 months and reported being motivated to quit smoking." . _:4b192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TTURC"; . _:4b1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UW-TTURC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21406, _:genid-371333f489424440b12a13b9d98ced822608-genid21408; , ; ; "PMID:39715278"; "A population-based SARS-CoV-2 study in the Gardena valley (Val Gardena/Gröden) of South Tyrol, Italy, one of the areas most afflicted early in the COVID-19 pandemic, that invited a random sample of the inhabitants of its main municipalities (Ortisei, Santa Cristina and Selva), stratified by municipality, sex and age group, to answer a questionnaire and undergo a nasopharyngeal swab test and a serological antibody test between 26 May and 8 June 2020, towards the end of the first wave, and stored their biological samples at the Eurac Research Biobank; funded by the Healthcare System of the Autonomous Province of Bolzano/Bozen, it later contributed genotyped participants to the COVID-19 Host Genetics Initiative and participants with confirmed infection to a whole-genome sequencing study of COVID-19 host genetics built on the German COVID-19 Omics Initiative."; 2244; "TOPMed_Gardena", "Val Gardena", "Val Gardena cohort", "Val Gardena/Gröden study", "Val_Gardena", "topmed_gardena"; rdfs:label "Val Gardena COVID-19 study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21406 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21408 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21406; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8387688/fullTextXML"; rdfs:comment "At the end of May 2020, we surveyed 2244 inhabitants of the Gardena valley representative of the local population, measured antibody test response to SARS-CoV-2 and related that response to symptoms, prior conditions and serum neutralisation capacity." . _:4b1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21408; "SARS-CoV-2 infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8387688/fullTextXML"; rdfs:comment "At the end of May 2020, we surveyed 2244 inhabitants of the Gardena valley representative of the local population, measured antibody test response to SARS-CoV-2 and related that response to symptoms, prior conditions and serum neutralisation capacity." . _:4b1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8387688/fullTextXML"; rdfs:comment "During the initial phase of the SARS-CoV-2 pandemic, the Gardena valley, a well-known winter tourism destination located in South Tyrol (Italy), became one of the European regions most afflicted by the coronavirus disease 2019 (COVID-19)." . _:4b1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39715278"; "Systematic assessment of COVID-19 host genetics using whole genome sequencing data."; "PMID:39715278", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11706450/fullTextXML"; rdfs:comment "the Healthcare System of the Autonomous Province of Bolzano/Bozen (Val Gardena cohort)" . _:4b1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based SARS-CoV-2 study in the Gardena valley (Val Gardena/Gröden) of South Tyrol, Italy, one of the areas most afflicted early in the COVID-19 pandemic, that invited a random sample of the inhabitants of its main municipalities (Ortisei, Santa Cristina and Selva), stratified by municipality, sex and age group, to answer a questionnaire and undergo a nasopharyngeal swab test and a serological antibody test between 26 May and 8 June 2020, towards the end of the first wave, and stored their biological samples at the Eurac Research Biobank; funded by the Healthcare System of the Autonomous Province of Bolzano/Bozen, it later contributed genotyped participants to the COVID-19 Host Genetics Initiative and participants with confirmed infection to a whole-genome sequencing study of COVID-19 host genetics built on the German COVID-19 Omics Initiative."; "PMID:34237774", "PMID:34645534", "PMID:39715278"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2244; "inhabitants of the Gardena valley's three main municipalities (stratified random sample of 2958 invited) who joined the 2020 serosurvey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8387688/fullTextXML"; rdfs:comment "Of 2958 invited individuals, 2244 (75.9%) joined the study." . _:4b212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOPMed_Gardena"; . _:4b222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Val_Gardena"; . _:4b232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "topmed_gardena"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21417; , ; "PMID:20522523"; "A population-based study of the oldest old in Finland that includes all people aged 85 years or over who were living in the city of Vantaa, in southern Finland, on 1 April 1991, whose dementia status was assessed at baseline and at three follow-ups in 1994–99 and who underwent general and neuropathological autopsy whenever possible; its genotyped participants have been used in genetic studies of Alzheimer disease and other neuropathology of very old age and as Finnish controls in genome-wide association studies."; 601; "Vantaa 85+", "Vantaa 85+ study", "Vantaa85+", "Vantaa85+ study"; rdfs:label "Vantaa 85+ Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21417 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21417; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5338150/fullTextXML"; rdfs:comment "We have addressed this question by performing a population‐based and prospective neuropathological study on very elderly subjects (Vantaa 85+ study), to analyze the frequency and co‐occurrence of common old‐age‐associated neuropathologies and their impact on the development of clinical dementia." . _:4b252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11706281/fullTextXML"; rdfs:comment "The population-based Vantaa 85+ study cohort includes all 601 individuals aged ≥85 years who were living in Vantaa, Finland in 1991." . _:4b262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20522523"; "Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study."; "PMID:20522523", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2892941/fullTextXML"; rdfs:comment "Finnish control data from the Vantaa85+ study were received in Beadstudio files and processed using the same protocol." . _:4b272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of the oldest old in Finland that includes all people aged 85 years or over who were living in the city of Vantaa, in southern Finland, on 1 April 1991, whose dementia status was assessed at baseline and at three follow-ups in 1994–99 and who underwent general and neuropathological autopsy whenever possible; its genotyped participants have been used in genetic studies of Alzheimer disease and other neuropathology of very old age and as Finnish controls in genome-wide association studies."; "PMID:20522523", "PMID:22911860", "PMID:26401513", "PMID:29379882", "PMID:36510334", "PMID:38938199"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 601; "all persons aged 85 or over living in Vantaa on 1 April 1991 (the study population)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4574809/fullTextXML"; rdfs:comment "The Vantaa 85+ study includes all 601 persons aged 85 years or over who were living in the city of Vantaa (Southern Finland), on 1 April 1991." . _:4b292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vantaa85+"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. VARI is the PGS Catalog's id for a case series in the renal cell carcinoma GWAS of PMID:28598434. It holds about 1,050 kidney cancer patients treated at Spectrum Health Hospital in Grand Rapids, Michigan, and at hospitals of the Cooperative Human Tissue Network, with germline DNA extracted from normal kidney tissue next to the tumour. The supplement calls it only a 'Van Andel Research Institute Case series' (E1193.7), with no study name, recruitment period or design beyond that. Not a cohort. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Van Andel Research Institute"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21424; , ; "PMID:22055160"; "A single-centre randomised controlled trial of screening for abdominal aortic aneurysm in Viborg County, Denmark, which randomised all men born in 1921–29 who lived in the county in 1994, and those who turned 65 in 1995–98, either to an invitation to abdominal ultrasound screening or to a control group; men found to have an aneurysm of 30–49 mm were offered annual surveillance."; 12639; "VCAAA", "Viborg Country AAA screening program", "Viborg Study", "Viborg study"; rdfs:label "Viborg Aneurysm Screening Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21424 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21424; "abdominal aortic aneurysm"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC555873/"; rdfs:comment "Consequently, we carried out a randomised controlled trial to determine whether screening Danish men aged 64-73 for abdominal aortic aneurysms reduces mortality." . _:4b2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC555873/"; rdfs:comment "In 1994 we randomised all men born during 1921-9 who lived in Viborg County, Denmark." . _:4b2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22055160"; "Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1."; "PMID:22055160", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3213391/"; rdfs:comment "A follow-up study of SNPs demonstrating association with AAA in the replication studies was performed in independent samples (11,090 controls and 1491 AAA) from the Copenhagen City Heart Study and the Viborg Country AAA screening program and samples collected by two of the contributing centers during the conduct of the discovery and replication studies." . _:4b2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre randomised controlled trial of screening for abdominal aortic aneurysm in Viborg County, Denmark, which randomised all men born in 1921–29 who lived in the county in 1994, and those who turned 65 in 1995–98, either to an invitation to abdominal ultrasound screening or to a control group; men found to have an aneurysm of 30–49 mm were offered annual surveillance."; "PMID:15757960", "PMID:32158272"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12639; "men randomised to invitation to screening (6333) or to the control group (6306), 1994-1998"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC555873/"; rdfs:comment "We randomised all 12 639 men aged 64-73 (mean age 67.7 years) living in Viborg County, Denmark (fig 1)." . _:4b2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VCAAA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21431; , ; "PMID:25420145"; "A collection of patients with cervical artery dissection at the University of Virginia, Charlottesville, United States, which contributed patients of European origin, meeting the inclusion criteria of the CADISP study, to the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection and, with controls from the Ischemic Stroke Genetics Study and the Siblings with Ischemic Stroke Study, to its follow-up sample."; "VCAD", "Virginia Cervical Artery Dissection", "Virginia cervical artery dissection collection"; rdfs:label "Virginia Cervical Artery Dissection Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21431 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21431; "cervical artery dissection"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "To increase the sample size for genetic analyses, an independent sample of 501 CeAD patients of European origin was recruited between 2008 and 2010, in some CADISP centers and additional 12 centers in 7 European countries and the United States (Supplementary Fig. 2), applying the same inclusion criteria as for the CADISP study (Supplementary Fig. 1)." . _:4b312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "USA University of Virginia Charlottesville (VA) 48" . _:4b322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25420145"; "Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; rdfs:comment "The Virginia cervical artery dissection collection was supported by the NIH/NHGRI \"Genomics and Randomized Trials Network (GARNET)\" HG005160 grant." . _:4b332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of patients with cervical artery dissection at the University of Virginia, Charlottesville, United States, which contributed patients of European origin, meeting the inclusion criteria of the CADISP study, to the second sample (CADISP-2) of the 2015 genome-wide association study of cervical artery dissection and, with controls from the Ischemic Stroke Genetics Study and the Siblings with Ischemic Stroke Study, to its follow-up sample."; "PMID:25420145", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3154/MediaObjects/41588_2015_BFng3154_MOESM24_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VCAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21437, _:genid-371333f489424440b12a13b9d98ced822608-genid21439; , ; ; "PGS005203", "PMID:40691366"; "A regional diabetes case-control biobank in Vejle, Denmark, established from 2007 to 2010, holding blood, DNA and urine samples and examination, questionnaire and interview data from patients with diabetes and an age- and sex-matched control population aged 25 to 75, linked to the Danish Civil Registration System, National Patient Registry and National Prescription Registry, for studies of the causes of diabetes and its comorbidities."; "The acronym VDB also denotes Mayo Vascular Disease Biorepository (COHO:0001370); this term is Vejle Diabetes Biobank."@en; 3320; 4255; "VDB", "Vejle", "Vejle Biobank"; ; rdfs:label "Vejle Diabetes Biobank"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21437 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21439 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21437; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5085288/fullTextXML"; rdfs:comment "In total, 4,255 control persons with no diabetes and 3,320 patients with diabetes, hereof 2,721 T2D patients and 599 T1D patients, were included from March 1, 2007 to May 1, 2010." . _:4b362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21439; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5085288/fullTextXML"; rdfs:comment "In total, 4,255 control persons with no diabetes and 3,320 patients with diabetes, hereof 2,721 T2D patients and 599 T1D patients, were included from March 1, 2007 to May 1, 2010." . _:4b372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27799821+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Vejle Diabetes Biobank represents one of the largest open diabetes case-control cohorts in Denmark." . _:4b382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005203"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:4b392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "The Vejle Diabetes Biobank was supported by The Danish Research Council for Independent Research and by Region of Southern Denmark." . _:4b3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A regional diabetes case-control biobank in Vejle, Denmark, established from 2007 to 2010, holding blood, DNA and urine samples and examination, questionnaire and interview data from patients with diabetes and an age- and sex-matched control population aged 25 to 75, linked to the Danish Civil Registration System, National Patient Registry and National Prescription Registry, for studies of the causes of diabetes and its comorbidities."; "PMID:27799821"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:4b3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3320; "Vejle Diabetes Biobank final diabetes and nondiabetic control recruits, 2007-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5085288/fullTextXML"; rdfs:comment "In total, 4,255 control persons with no diabetes and 3,320 patients with diabetes, hereof 2,721 T2D patients and 599 T1D patients, were included from March 1, 2007 to May 1, 2010." . _:4b3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4255; "Vejle Diabetes Biobank final diabetes and nondiabetic control recruits, 2007-2010"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5085288/fullTextXML"; rdfs:comment "In total, 4,255 control persons with no diabetes and 3,320 patients with diabetes, hereof 2,721 T2D patients and 599 T1D patients, were included from March 1, 2007 to May 1, 2010." . _:4b3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VDB"; . _:4b3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vejle"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-27. Vejle is the Vejle Diabetes Biobank of the lipids GWAS the id comes from (PMID:34887591). Replaced by COHO:0002542 (Vejle Diabetes Biobank), which now carries this term's names. Found by a check of the placeholders against the papers the PGS Catalog links to them or found by their names, 2026-09-25."@en; rdfs:label "obsolete Vejle Biobank"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21449, _:genid-371333f489424440b12a13b9d98ced822608-genid21451, _:genid-371333f489424440b12a13b9d98ced822608-genid21453; , ; "PGS000765", "PMID:11953844"; "A population-based, statewide study of patients with newly diagnosed cancers of various sites in Saarland, Germany, identified in the late 1990s by their treating physicians at the hospitals of Saarland and adjacent counties and interviewed about the diagnostic process, to study diagnostic delay and late-stage diagnosis; conducted by epidemiologists of the University of Ulm and the German Centre for Research on Ageing with the Saarland Cancer Registry. It is distinct from the ESTHER cohort, with which consortia pool it as ESTHER/VERDI."; 908; "VERDI", "VERDI study", "Verlauf der diagnotischen Abklärung bei Krebspatienten", "Verlauf der diagnotischen Abklärung bei Krebspatienten"; ; rdfs:label "Verlauf der diagnostischen Abklärung"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21449 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21451 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21453 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21449; "gastric cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC2375093"; rdfs:comment "Briefly, residents of Saarland with a first diagnosis of colorectal cancer (CRC), gastric cancer and breast cancer below age 80 between November 1996 and February 1998 were recruited." . _:4b402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21451; "colorectal cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC2375093"; rdfs:comment "Briefly, residents of Saarland with a first diagnosis of colorectal cancer (CRC), gastric cancer and breast cancer below age 80 between November 1996 and February 1998 were recruited." . _:4b412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21453; "breast cancer"; "https://europepmc.org/api/getPdf?pmcid=PMC2375093"; rdfs:comment "Briefly, residents of Saarland with a first diagnosis of colorectal cancer (CRC), gastric cancer and breast cancer below age 80 between November 1996 and February 1998 were recruited." . _:4b422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2364177/fullTextXML"; rdfs:comment "A population-based, statewide study on diagnostic delay and late stage diagnosis was conducted among patients with various forms of cancer in Saarland, a state with about 1 million inhabitants in Western Germany (Verlauf der diagnostischen Abklärung, VERDI)." . _:4b432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000765"; "Discovery of common and rare genetic risk variants for colorectal cancer."; "PMID:30510241" . _:4b442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:11953844"; "Patient delay and stage of diagnosis among breast cancer patients in Germany -- a population based study."; "PMID:11953844", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2364177/fullTextXML"; rdfs:comment "A population-based, statewide study on diagnostic delay and late stage diagnosis was conducted among patients with various forms of cancer in Saarland, a state with about 1 million inhabitants in Western Germany (Verlauf der diagnostischen Abklärung, VERDI)." . _:4b452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based, statewide study of patients with newly diagnosed cancers of various sites in Saarland, Germany, identified in the late 1990s by their treating physicians at the hospitals of Saarland and adjacent counties and interviewed about the diagnostic process, to study diagnostic delay and late-stage diagnosis; conducted by epidemiologists of the University of Ulm and the German Centre for Research on Ageing with the Saarland Cancer Registry. It is distinct from the ESTHER cohort, with which consortia pool it as ESTHER/VERDI."; "PMID:11953844", "PMID:27140836"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 908; "Saarland residents with a first diagnosis of colorectal (439), gastric (82) or breast (387) cancer enrolled November 1996 to February 1998 (1996-1998)"; "https://europepmc.org/api/getPdf?pmcid=PMC2375093"; rdfs:comment "Overall, 908 patients (439 patients with CRC, 82 patients with gastric cancer and 387 patients with breast cancer) living in Saarland were enrolled." . _:4b472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VERDI"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21461, _:genid-371333f489424440b12a13b9d98ced822608-genid21463; , ; ; "PGS000004", "PMID:29058716"; "A cancer clinic-based study of carriers of pathogenic BRCA1 and BRCA2 variants in Victoria, Australia, assembled by the Victorian Familial Cancer Trials Group under the ethics approval of the Peter MacCallum Cancer Centre, which contributes carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of breast and ovarian cancer risk."; 103; 104; "VFCTG", "VFCTG study"; ; rdfs:label "Victorian Familial Cancer Trials Group"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21461 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21463 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21461; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:4b492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21463; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5612337/"; rdfs:comment "Eligibility in CIMBA is restricted to females aged 18 years or older with pathogenic variants in BRCA1 or BRCA2." . _:4b4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "VFCTG | Victorian Familial Cancer Trials Group | AUSTRALIA | 104 | 103 | | 2 | 1" . _:4b4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores."; "PMID:34320204" . _:4b4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29058716"; "Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer."; "PMID:29058716", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "VFCTG | Victorian Familial Cancer Trials Group | AUSTRALIA | 104 | 103 | | 2 | 1" . _:4b4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cancer clinic-based study of carriers of pathogenic BRCA1 and BRCA2 variants in Victoria, Australia, assembled by the Victorian Familial Cancer Trials Group under the ethics approval of the Peter MacCallum Cancer Centre, which contributes carriers to the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for studies of genetic modifiers of breast and ovarian cancer risk."; "PMID:28448241", "PMID:37173335"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 103; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "VFCTG | Victorian Familial Cancer Trials Group | AUSTRALIA | 104 | 103 | | 2 | 1" . _:4b4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 104; "BRCA1-carrier OncoArray breast-cancer affected and unaffected contribution in PMID:29058716"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3785/MediaObjects/41588_2017_BFng3785_MOESM3_ESM.xlsx"; rdfs:comment "VFCTG | Victorian Familial Cancer Trials Group | AUSTRALIA | 104 | 103 | | 2 | 1" . _:4b502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VFCTG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21472; , ; "PGS000349", "PMID:30646800"; "An ongoing regional study at the university hospital of Verona, Italy, of adults from the Verona district who underwent coronary angiography, comprising patients with angiographically documented coronary artery disease and coronary artery disease-free subjects angiographed for other reasons (mainly valvular heart disease), with cross-sectional and prospective designs, to search for new risk factors for coronary artery disease and myocardial infarction."; 807; 213; 1020; "VHS", "Verona Heart Project"; ; rdfs:label "Verona Heart Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21472 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21472; "coronary artery disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6497332/"; rdfs:comment "The VHS is an ongoing survey that uses cross‐sectional and prospective designs aimed to search for new risk factors for CAD in patients using objective, angiographic documentation of their coronary vessels." . _:4b522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6497332/fullTextXML"; rdfs:comment "The ethics committee of our institution (Azienda Ospedaliera Universitaria Integrata, Verona, Italy) approved the study." . _:4b532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000349"; "Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study."; "PMID:32912153" . _:4b542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30646800"; "Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease."; "PMID:30646800", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6497332/"; rdfs:comment "The population for this study was selected from the cohort of the VHS (Verona Heart Study)." . _:4b552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing regional study at the university hospital of Verona, Italy, of adults from the Verona district who underwent coronary angiography, comprising patients with angiographically documented coronary artery disease and coronary artery disease-free subjects angiographed for other reasons (mainly valvular heart disease), with cross-sectional and prospective designs, to search for new risk factors for coronary artery disease and myocardial infarction."; "PMID:18253477", "PMID:30646800"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 807; "VHS patients with prospective data in the 2019 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6497332/"; rdfs:comment "On the basis of an angiographic evaluation, the patients were classified as CAD‐free (n=213, individuals who underwent coronary angiography for reasons other than suspected CAD, primarily valvular heart disease) and patients with CAD (n=807 individuals with at least 1 of the major epicardial coronary arteries [left anterior descending, circumflex, and right] affected by ≥1 significant stenosis [≥50% lumen reduction])." . _:4b572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 213; "VHS patients with prospective data in the 2019 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6497332/"; rdfs:comment "On the basis of an angiographic evaluation, the patients were classified as CAD‐free (n=213, individuals who underwent coronary angiography for reasons other than suspected CAD, primarily valvular heart disease) and patients with CAD (n=807 individuals with at least 1 of the major epicardial coronary arteries [left anterior descending, circumflex, and right] affected by ≥1 significant stenosis [≥50% lumen reduction])." . _:4b582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1020; "VHS patients with prospective data in the 2019 study"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6497332/"; rdfs:comment "A total of 1020 patients (723 men and 297 women) who lived in the District of Verona and for whom prospective data were available were included in this study." . _:4b592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21482; , ; "PGS000074", "PMID:22634755"; "A phase III, placebo-controlled randomized trial of the COX-2 inhibitor rofecoxib (Vioxx) in patients from throughout the United Kingdom who had undergone potentially curative surgery and completed adjuvant therapy for stage II or III colorectal cancer, testing whether rofecoxib reduced recurrence and improved survival; it was terminated early by the worldwide withdrawal of rofecoxib. Its patients, together with those of the QUASAR2 trial, form the VQ58 case series of colorectal cancer genome-wide association studies."; 2434; "VICTOR", "VICTOR trial"; ; rdfs:label "Vioxx in Colorectal Cancer Therapy: Definition of Optimal Regime"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21482 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21482; "colorectal cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4747430/"; rdfs:comment "The VQ58 GWAS comprised 1,800 CRC cases from the UK-based VICTOR and QUASAR2 adjuvant chemotherapy clinical trials." . _:4b5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5098601/fullTextXML"; rdfs:comment "In order to augment our ability to detect additional CRC loci, we have undertaken a further GWA analysis of a set of cases from the VICTOR and QUASAR2 clinical trials of adjuvant therapy in potentially curable colorectal carcinoma These trials recruited patients from throughout the United Kingdom." . _:4b5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000074"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:4b5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22634755"; "Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk."; "PMID:22634755", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4747430/"; rdfs:comment "The VQ58 GWAS comprised 1,800 CRC cases from the UK-based VICTOR and QUASAR2 adjuvant chemotherapy clinical trials." . _:4b5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A phase III, placebo-controlled randomized trial of the COX-2 inhibitor rofecoxib (Vioxx) in patients from throughout the United Kingdom who had undergone potentially curative surgery and completed adjuvant therapy for stage II or III colorectal cancer, testing whether rofecoxib reduced recurrence and improved survival; it was terminated early by the worldwide withdrawal of rofecoxib. Its patients, together with those of the QUASAR2 trial, form the VQ58 case series of colorectal cancer genome-wide association studies."; "PMID:20837956", "PMID:20972440", "PMID:22634755", "PMID:24062397"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2434; "Patients entered into the VICTOR trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20837956+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Two thousand four hundred thirty-four patients were entered onto the study." . _:4b602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VICTOR"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Checked 2026-09-23: The id is on the PGS Catalog's cohort reference list but has no released score, sample set or publication (REST record empty, no papers in cohort_papers.json), so there is no PGS paper to read. VIO is the PGS Catalog's reference-list entry for the Valencia Institute of Oncology (Fundación Instituto Valenciano de Oncología, Valencia, Spain), a cancer hospital. No released PGS score, sample set or publication uses it. The only literature under this name is clinical case series and affiliations of the institute's clinicians. Its melanoma patients appear in consortium genetics papers as part of the MelaNostrum Consortium ('Spain (Valencia, Barcelona)'), not as a named study. Nothing shows a defined, named collection behind the id, so the name denotes only the institution. Not a cohort. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Valencia Institute of Oncology"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21490; ; , ; ; "PGS000030", "PMID:35396534"; "An ongoing population-based cohort study initiated in 1985 in which all residents of Västerbotten County, Sweden, are invited to a health examination at ages 40, 50 and 60, with blood drawn for cryopreservation; one of the three sub-surveys of the Northern Sweden Health and Disease Study, used for nested case–control studies of cancer and cardiovascular disease and for evaluating polygenic risk scores."; 86242; "VIP", "VIP study", "Västerbotten Intervention Program"; ; rdfs:label "Västerbotten Intervention Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21490 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21490; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8438896/fullTextXML"; rdfs:comment "The programme was initiated in parts of the county in 1985 as a community-level and individual-level programme to reduce the morbidity and mortality from CVD in Northern Sweden." . _:4b622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8993880/fullTextXML"; rdfs:comment "The VIP is an ongoing population-based cohort study initiated in 1985 in which all residents of Västerbotten County, Sweden, are invited to receive a health examination at ages 40, 50, and 60 with blood drawn for cryopreservation." . _:4b632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12807872/supplementaryFiles"; rdfs:comment "The Northern Sweden Health and Disease Study (NSHDS) comprises three sub-surveys, the Västerbotten Intervention Program (VIP), the Northerns Sweden MONICA study and the Mammography Screening Program (MSP), whereof VIP and MONICA are actively recruiting." . _:4b642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000030"; "Prostate cancer polygenic risk score and prediction of lethal prostate cancer."; "PMID:35396534" . _:4b652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35396534"; "Prostate cancer polygenic risk score and prediction of lethal prostate cancer."; "PMID:35396534", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8993880/fullTextXML"; rdfs:comment "Herein, PRS for incident prostate cancer was evaluated in two population-based cohorts of unscreened middle-aged men linked to cancer and death registries: the Västerbotten Intervention Project (VIP) and the Malmö Diet and Cancer study (MDC)." . _:4b662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing population-based cohort study initiated in 1985 in which all residents of Västerbotten County, Sweden, are invited to a health examination at ages 40, 50 and 60, with blood drawn for cryopreservation; one of the three sub-surveys of the Northern Sweden Health and Disease Study, used for nested case–control studies of cancer and cardiovascular disease and for evaluating polygenic risk scores."; "PMID:35396534", "PMID:41419686"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:4b672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 86242; "individuals who had participated in the VIP health examinations since inception (2007)"; "PMID:20339479"; rdfs:comment "Between inception through 2007, a total of 86,242 individuals have participated with almost 27,000 participating twice." . _:4b682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21499; , , , ; "PGS000013", "PMID:30586733"; "An observational, multiethnic cohort study of young adults with acute myocardial infarction, aged 18 to 55, enrolled with more women than men at hospitals across the United States and Spain from 2008, to study sex differences in the presentation, treatment and outcomes of AMI."; 3501; "IM-JOVEN", "IMJOVEN", "Infarto de miocardio en la Mujer Joven", "VIRGO"; ; rdfs:label "Variation in Recovery: Role of Gender on Outcomes of Young AMI Patients"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21499 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21499; "acute myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21081748+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Variation in Recovery: Role of Gender on Outcomes of Young AMI Patients (VIRGO) is a large, observational study of the presentation, treatment, and outcomes of young women and men with AMI." . _:4b6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25512442+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The prospective, longitudinal Variation in Recovery: Role of Gender on Outcomes of Young AMI Patients (VIRGO) study, conducted at 127 hospitals in the United States and Spain, was designed, in part, to evaluate gender differences in baseline sexual activity, function, and patient experience with physician counseling about sexual activity after an AMI." . _:4b6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000013"; "Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction."; "PMID:30586733" . _:4b6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30586733"; "Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction."; "PMID:30586733", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6433484/unicode"; rdfs:comment "We performed whole genome sequencing in 2,081 patients presenting to U.S. hospital with early-onset myocardial infarction from the multiethnic Variation in Recovery: Role of Gender on Outcomes of Young AMI Patients (VIRGO) study." . _:4b6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational, multiethnic cohort study of young adults with acute myocardial infarction, aged 18 to 55, enrolled with more women than men at hospitals across the United States and Spain from 2008, to study sex differences in the presentation, treatment and outcomes of AMI."; "PMID:21081748", "PMID:25512442", "PMID:30586733"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:4b6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3501; "patients aged 18-55 hospitalised with AMI in the VIRGO cohort (2,349 women, 1,152 men), US and Spain, 2008-2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25862743+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 3501 AMI patients (67% women) 18 to 55 years of age were enrolled from 103 US and 24 Spanish hospitals." . _:4b6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IM-JOVEN"; . _:4b702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMJOVEN"; . _:4b712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VIRGO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21509; , ; "PMID:20520574"; "A population-based observational study of middle-aged residents of Vobarno, a small town between Brescia and Lake Garda in northern Italy, randomly selected from the electoral rolls and examined with clinic and 24-hour ambulatory blood pressure measurement, cardiac and carotid ultrasound, aortic stiffness and blood sampling for biochemistry and DNA extraction, to relate cardiac and vascular structure and function to blood pressure; participants were followed for about 25 years for cardiovascular morbidity and mortality."; 600; "Vobarno"; rdfs:label "Vobarno Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21509 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21509; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33988330+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Vobarno Study represents the first observational study aimed to assess in a general population sample the relationship between parameters of cardiac and vascular structure (and function) and blood pressure values, measured in the clinic and during the 24 hours." . _:4b732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33988330+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the frame of The Vobarno Study blood samples for hematochemistry and DNA extraction, clinic and 24-hour blood pressure measurements, cardiac and carotid ultrasound, and aortic stiffness were measured in all subjects, living in a small town (Vobarno) between Brescia and the Garda Lake (Italy), and randomly selected from electoral roles." . _:4b742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20520574"; "Pulse wave velocity and cardiovascular risk stratification in a general population: the Vobarno study."; "PMID:20520574", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20520574+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Pulse wave velocity and cardiovascular risk stratification in a general population: the Vobarno study." . _:4b752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based observational study of middle-aged residents of Vobarno, a small town between Brescia and Lake Garda in northern Italy, randomly selected from the electoral rolls and examined with clinic and 24-hour ambulatory blood pressure measurement, cardiac and carotid ultrasound, aortic stiffness and blood sampling for biochemistry and DNA extraction, to relate cardiac and vascular structure and function to blood pressure; participants were followed for about 25 years for cardiovascular morbidity and mortality."; "PMID:33988330", "PMID:8621195"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 600; "about 600 individuals, the Vobarno Study population as a 2009 congress abstract gives it (approximate)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7101653/fullTextXML"; rdfs:comment "We have examined about 600 individuals (Vobarno Study population), who have been characterized for traditional cardiovascular risk factors, including cigarette smoking." . _:4b772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Vobarno"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21516; , ; "PMID:30845926"; "A population-based cohort study of the epidemiology of pulmonary diseases in adults of Dutch descent from the general population of Vlagtwedde and Vlaardingen, the Netherlands, who from 1965 until the last survey in 1989/1990 had medical examinations with a respiratory questionnaire and spirometry every three years, and whose vital status was later updated; its genotyped participants have been used in genetic studies of lung function, airflow obstruction and respiratory symptoms."; 8465; "VVC", "Vlagtwedde-Vlaardingen", "Vlagtwedde-Vlaardingen cohort", "Vlagtwedde-Vlaardingen cohort study", "Vlagtwedde-Vlaardingen study", "Vlagtwedde/Vlaardingen Cohort study", "Vlagtwedde/Vlaardingen cohort study"; rdfs:label "Vlagtwedde/Vlaardingen study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21516 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21516; "pulmonary diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4824471/fullTextXML"; rdfs:comment "The Vlagtwedde-Vlaardingen study is a general population based study on the epidemiology of pulmonary diseases in a general population of exclusively white individuals of Dutch descent [18,19]." . _:4b792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5362243/fullTextXML"; rdfs:comment "Controls were derived from Vlagtwedde/Vlaardingen cohort study, a population-based cohort of adult subjects of European ancestry in the Netherlands, recruited from 1965 with a follow-up of over 25 years." . _:4b7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30845926"; "Limited overlap in significant hits between genome-wide association studies on two airflow obstruction definitions in the same population."; "PMID:30845926", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6407273/fullTextXML"; rdfs:comment "To study the overlap between the two airflow obstruction definitions, all subjects with available genotypic data were included from the Dutch LifeLines Cohort Study (discovery sample) and the Vlagtwedde-Vlaardingen study (replication sample) [17–19]." . _:4b7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort study of the epidemiology of pulmonary diseases in adults of Dutch descent from the general population of Vlagtwedde and Vlaardingen, the Netherlands, who from 1965 until the last survey in 1989/1990 had medical examinations with a respiratory questionnaire and spirometry every three years, and whose vital status was later updated; its genotyped participants have been used in genetic studies of lung function, airflow obstruction and respiratory symptoms."; "PMID:23054033", "PMID:27055053", "PMID:28073367", "PMID:28273074", "PMID:30845926"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8465; "all subjects of the Vlagtwedde/Vlaardingen study, 1965-1990, whose vital status was assessed in 2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23054033+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Vital status of all 8,465 subjects on December 31st, 2008 was assessed." . _:4b7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VVC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21523; , ; ; "PGS000020", "PMID:16753056"; "A collection, funded by Diabetes UK, of people with type 2 diabetes and their relatives recruited from across the United Kingdom for genetic studies of type 2 diabetes, comprising probands of affected sibships (sib pairs), parent-offspring trios and duos, and a later collection of cases diagnosed at 35 to 65 years who were not selected for a family history of diabetes."; 1520; "Diabetes UK Warren 2 repository", "W2C", "WARREN 2", "WARREN2", "Warren 2", "Warren 2 Cases", "Warren 2 Cohort", "Warren 2 Consortium"; ; rdfs:label "Diabetes UK Warren 2 Repository"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21523 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21523; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2873325/fullTextXML"; rdfs:comment "The case-control dataset included 1520 cases from the Diabetes UK Warren 2 Sib Pair Repository (61.5% males) and 2570 control samples from the 1958 British birth cohort (n = 2027, 50.6% males) [29], and the HRC control collection (n = 543, 49.9% males) derived from UK blood donors and available from the European Centre for Cell Culture (ECACC, CAMR, Salisbury, UK)." . _:4b7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1534014/fullTextXML"; rdfs:comment "Subjects for the family-based analysis were recruited as part of a Warren 2 cohort from across the UK and were independent of subjects in the case-control analysis." . _:4b802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000020"; "Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores."; "PMID:27513194" . _:4b812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16753056"; "The functional \"KL-VS\" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians."; "PMID:16753056", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1534014/fullTextXML"; rdfs:comment "Cases were recruited from three sources, as described previously [10,11]: a collection of young-onset subjects (YT2D; age at diagnosis 18–45 years; n = 256); probands from type 2 diabetic sibships from the Diabetes UK Warren 2 repository (W2SP; n = 499) [12,13]; and a more recent collection of cases with type 2 diabetes from the Diabetes UK Warren 2 repository (W2C; age at diagnosis 35–65 years; not selected for having a family history of diabetes; n = 1038)." . _:4b822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection, funded by Diabetes UK, of people with type 2 diabetes and their relatives recruited from across the United Kingdom for genetic studies of type 2 diabetes, comprising probands of affected sibships (sib pairs), parent-offspring trios and duos, and a later collection of cases diagnosed at 35 to 65 years who were not selected for a family history of diabetes."; "PMID:16753056", "PMID:19672314", "PMID:20459604"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1520; "Diabetes UK repository cases analysed in the 2010 TNF/LTA study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2873325/fullTextXML"; rdfs:comment "The case-control dataset included 1520 cases from the Diabetes UK Warren 2 Sib Pair Repository (61.5% males) and 2570 control samples from the 1958 British birth cohort (n = 2027, 50.6% males) [29], and the HRC control collection (n = 543, 49.9% males) derived from UK blood donors and available from the European Centre for Cell Culture (ECACC, CAMR, Salisbury, UK)." . _:4b842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "W2C"; . _:4b852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WARREN2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21532; , ; "PMID:21738491"; "A randomised, double-blind, placebo-controlled 2x2x2 factorial trial of vitamin C, vitamin E and beta carotene for the prevention of cardiovascular events among female health professionals in the United States aged 40 or older with a history of cardiovascular disease or at least three cardiovascular risk factors, randomised from June 1995 to October 1996, to which a folic acid, vitamin B6 and vitamin B12 component was added in 1998; participants were followed up by questionnaire to 2005."; 8171; "WACS", "Womens Antioxidant Cardiovascular Study"; rdfs:label "Women's Antioxidant Cardiovascular Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21532 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21532; "cardiovascular disease"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2034519/"; rdfs:comment "Briefly, women were eligible if they were aged 40 years or older, postmenopausal or had no intention of becoming pregnant, had a self-reported history of CVD, or had at least three cardiac risk factors." . _:4b872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15006283+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In a factorial design, 8171 U.S. female health professionals aged >or=40 years were randomized to vitamin E, vitamin C, beta-carotene, or placebos." . _:4b882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21738491"; "Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals."; "PMID:21738491", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3128111/fullTextXML"; rdfs:comment "The SCD cases from the Physicians' Health Study (PHS I and II), the Nurses' Health Study (NHS), the Health Professionals Follow-up Study (HPFS), and the Women's Antioxidant Cardiovascular Study (WACS) were included in the present analysis." . _:4b892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, double-blind, placebo-controlled 2x2x2 factorial trial of vitamin C, vitamin E and beta carotene for the prevention of cardiovascular events among female health professionals in the United States aged 40 or older with a history of cardiovascular disease or at least three cardiovascular risk factors, randomised from June 1995 to October 1996, to which a folic acid, vitamin B6 and vitamin B12 component was added in 1998; participants were followed up by questionnaire to 2005."; "PMID:15006283", "PMID:17698683"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8171; "WACS randomized women at increased cardiovascular risk (1996)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2034519/"; rdfs:comment "8,171 women were willing and eligible, were compliant during a 12-week run-in, and were randomized into the trial from June, 1995, through October, 1996 (Figure 1)." . _:4b8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WACS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21539; , ; ; "PMID:10930144"; "A prospective, single-centre, population-based observational study of the natural history of HIV disease among people with HIV attending the tertiary HIV service in Perth, Western Australia, whose clinical data, HIV sequences and host HLA and genome-wide genotypes have been used to study HIV immune escape, host genetic control of the virus, and prospective HLA-B*5701 screening to prevent abacavir hypersensitivity."; "WAHCS", "West Australian HIV cohort Study", "Western Australia HIV Cohort Study", "Western Australian HIV Cohort study", "Western Australian HIV Study Cohort", "Western Australian HIV cohort study"; rdfs:label "Western Australian HIV Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21539 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21539; "HIV infection"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3173576/fullTextXML"; rdfs:comment "The 125 subjects used for all cellular studies were enrolled into the WAHCS which is a prospective, observational study of HIV-infected individuals established in 1983 and approved by the Royal Perth Hospital Ethics Committee and conforms to the provisions of the Declaration of Helsinki." . _:4b8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9586648+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Western Australian HIV Cohort Study, Perth, Australia." . _:4b8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:10930144"; "Contribution of nucleoside analogue reverse transcriptase inhibitors to subcutaneous fat wasting in patients with HIV infection."; "PMID:10930144", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A10930144+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Longitudinal cohort study involving 277 participants of the Western Australian HIV Cohort Study." . _:4b8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, single-centre, population-based observational study of the natural history of HIV disease among people with HIV attending the tertiary HIV service in Perth, Western Australia, whose clinical data, HIV sequences and host HLA and genome-wide genotypes have been used to study HIV immune escape, host genetic control of the virus, and prospective HLA-B*5701 screening to prevent abacavir hypersensitivity."; "PMID:16758424", "PMID:19690614", "PMID:22498169", "PMID:24171102", "PMID:7802978", "PMID:9586648"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WAHCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21545; , ; ; "PGS000004", "PMID:34101481"; "A multi-site case-control study of breast cancer in African American and European American women in metropolitan New York City and New Jersey, with cases ascertained through hospitals and the New Jersey State Cancer Registry and controls identified first through random digit dialing and later also through community-based recruitment, recruited from bases at Mount Sinai School of Medicine and the Cancer Institute of New Jersey with data and biospecimens processed at Roswell Park Cancer Institute, to investigate genetic and lifestyle risk factors for aggressive (high-grade, estrogen receptor-negative) breast cancer and its earlier onset in African American women."; 1751; 1673; "WCHS", "Womens Circle of Health Study"; ; rdfs:label "Women's Circle of Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21545 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21545; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7505987/fullTextXML"; rdfs:comment "Study participants were breast cancer cases based on the Women’s Circle of Health Study (WCHS), a multi-site case-control study in New York City and New Jersey designed to investigate genetic and lifestyle risk factors for aggressive breast cancer." . _:4b922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2766507/fullTextXML"; rdfs:comment "Because of the large, racially mixed population of women in metropolitan New York City (NYC) and eastern New Jersey (NJ), we are currently conducting a case-control study, the Women's Circle of Health Study (WCHS), with the goal of accruing 1200 AA and 1200 EA women with breast cancer and an equal number of controls, to specifically address these questions." . _:4b932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000004"; "Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry."; "PMID:33769540" . _:4b942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34101481"; "Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score."; "PMID:34101481", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8330969/"; rdfs:comment "The two population-based case-control studies are the Women's Circle of Health Study" . _:4b952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-site case-control study of breast cancer in African American and European American women in metropolitan New York City and New Jersey, with cases ascertained through hospitals and the New Jersey State Cancer Registry and controls identified first through random digit dialing and later also through community-based recruitment, recruited from bases at Mount Sinai School of Medicine and the Cancer Institute of New Jersey with data and biospecimens processed at Roswell Park Cancer Institute, to investigate genetic and lifestyle risk factors for aggressive (high-grade, estrogen receptor-negative) breast cancer and its earlier onset in African American women."; "PMID:19865486", "PMID:24113797", "PMID:29073238", "PMID:33024820"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1751; "breast cancer cases and controls who had completed the interview by the time of the 2013 analysis, African American and European American women (no total stated; enrolment continued afterwards)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3886722/"; rdfs:comment "A total of 1,751 cases (979 AA and 772 EA) and 1,673 controls (958 AA and 715 EA) completed the interview." . _:4b972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1673; "breast cancer cases and controls who had completed the interview by the time of the 2013 analysis, African American and European American women (no total stated; enrolment continued afterwards)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3886722/"; rdfs:comment "A total of 1,751 cases (979 AA and 772 EA) and 1,673 controls (958 AA and 715 EA) completed the interview." . _:4b982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WCHS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. WCPSOCCI is the PGS Catalog's id for OCAC's study LAX: ovarian cancer patients of the Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, collected since 1989 with data taken from medical records (PMC5625672 Table 1; PMID:28346442). OCAC names it only by the programme and the acronym LAX. It has no study name, design or defined recruitment of its own beyond being the programme's patients, so it is an unnamed institutional collection. Not a cohort. The CIMBA group from the same programme is E1212 (WCRI). Cedars-Sinai's MIRIAD IBD biobank (COHO:0000716) is unrelated. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Womens Cancer Program at the Samuel Oschin Comprehensive Cancer Institute"@en; owl:deprecated true . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. WCRI is the PGS Catalog's id for CIMBA's group WCP: BRCA1 and BRCA2 mutation carriers from the Women's Cancer Program at Cedars-Sinai Medical Center, Los Angeles (PMID:32665703 supplement; PMID:28346442; PMID:29058716). CIMBA names the group only by the clinical programme, with no study name or recruitment protocol of its own. That matches how other CIMBA institution groups in this review were decided (UPENN, UCSF, MSKCC, FCCC, KUMC and OUH are all 'not a cohort'). Not a cohort. The same programme's OCAC contribution is E1211 (WCPSOCCI). Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Womens Cancer Research Institute - Cedars-Sinai Medical Center"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21554; , , ; "PMID:20862305"; "A hospital-based case-control study of type 2 diabetes in Han Chinese in Wuhan, China, whose cases were men and women aged 30 or older with newly diagnosed type 2 diabetes (by American Diabetes Association and World Health Organization criteria, using fasting and 2-hour oral glucose tolerance test glucose), recruited consecutively from the endocrinology outpatient clinics of Tongji Medical College Hospital, and whose controls were people with normal glucose tolerance from an unselected population attending routine health check-ups at the same hospital between December 2004 and November 2007. It has been used for replication genotyping in genetic association studies of type 2 diabetes and obesity."; 1063; 1408; 2471; "WDS"; rdfs:label "Wuhan Diabetes Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21554 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4b992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21554; "type 2 diabetes"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1001127.s008"; rdfs:comment "The study includes 2,471 participants, 1,063 newly diagnosed T2D patients and 1,408 normal glucose tolerance (NGT) individuals." . _:4b9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2940731/fullTextXML"; rdfs:comment "Four of these SNPs (rs10906115, rs1359790, rs10751301, and rs1436955) were selected for the final stage of de novo genotyping replication in two independent Chinese studies, the Wuhan Diabetes Study (WDS; 1,063 cases and 1,408 controls) and the Nutrition and Health of Aging Population in China (NHAPC) study (424 cases and 1,908 controls)." . _:4b9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20862305"; "Identification of new genetic risk variants for type 2 diabetes."; "PMID:20862305", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2940731/fullTextXML"; rdfs:comment "Four of these SNPs (rs10906115, rs1359790, rs10751301, and rs1436955) were selected for the final stage of de novo genotyping replication in two independent Chinese studies, the Wuhan Diabetes Study (WDS; 1,063 cases and 1,408 controls) and the Nutrition and Health of Aging Population in China (NHAPC) study (424 cases and 1,908 controls)." . _:4b9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of type 2 diabetes in Han Chinese in Wuhan, China, whose cases were men and women aged 30 or older with newly diagnosed type 2 diabetes (by American Diabetes Association and World Health Organization criteria, using fasting and 2-hour oral glucose tolerance test glucose), recruited consecutively from the endocrinology outpatient clinics of Tongji Medical College Hospital, and whose controls were people with normal glucose tolerance from an unselected population attending routine health check-ups at the same hospital between December 2004 and November 2007. It has been used for replication genotyping in genetic association studies of type 2 diabetes and obesity."; "PMID:20862305", "PMID:22109280", "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1001127.s008"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4b9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1063; "WDS newly diagnosed T2D patients and normal-glucose-tolerance controls in the original profile (2007)"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1001127.s008"; rdfs:comment "The study includes 2,471 participants, 1,063 newly diagnosed T2D patients and 1,408 normal glucose tolerance (NGT) individuals." . _:4b9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1408; "WDS newly diagnosed T2D patients and normal-glucose-tolerance controls in the original profile (2007)"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1001127.s008"; rdfs:comment "The study includes 2,471 participants, 1,063 newly diagnosed T2D patients and 1,408 normal glucose tolerance (NGT) individuals." . _:4b9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2471; "WDS newly diagnosed T2D patients and normal-glucose-tolerance controls in the original profile (2007)"; "https://journals.plos.org/plosgenetics/article/file?type=supplementary&id=10.1371/journal.pgen.1001127.s008"; rdfs:comment "The study includes 2,471 participants, 1,063 newly diagnosed T2D patients and 1,408 normal glucose tolerance (NGT) individuals." . _:4ba02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21563, _:genid-371333f489424440b12a13b9d98ced822608-genid21565; , , ; "PMID:39699891"; "An ongoing prospective cohort that since August 2019 has recruited pregnant women aged 18 years or older with gestational diabetes at 24–28 weeks' gestation from the Hangzhou Maternity and Child Health Care Hospital in Hangzhou, China, who intend to deliver there and to stay in Hangzhou with their children for at least four years; it was approved by the institutional review board of Westlake University and integrates multi-omics with precision nutrition research on gestational diabetes."; 1902; "WeBirth", "WeBirth cohort", "WeBirth study", "Westlake Precision Birth Cohort study"; rdfs:label "Westlake Precision Birth Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21563 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21565 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ba12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21563; "gestational diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11659911/fullTextXML"; rdfs:comment "Inclusion criteria for WeBirth involved pregnant women (1) who were aged 18 years or older and had received a diagnosis of GD, and with a gestational age ranging from 24 to 28 weeks; and (2) who intended to deliver at Hangzhou Women’s Hospital and remain in Hangzhou with their children for 4 or more years." . _:4ba22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21565; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12751878/fullTextXML"; rdfs:comment "To date, there are no prediction models based on large Chinese general population data, though the Westlake Precision Birth Cohort study aimed to develop personalized dietary recommendations for Chinese women with gestational diabetes mellitus [17]." . _:4ba32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11659911/fullTextXML"; rdfs:comment "This cohort study was based on the data from the Westlake Precision Birth Cohort (WeBirth) in Hangzhou, China." . _:4ba42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39699891"; "Physical Activity During Pregnancy and Preterm Birth Among Women With Gestational Diabetes."; "PMID:39699891", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11659911/fullTextXML"; rdfs:comment "This cohort study was based on the data from the Westlake Precision Birth Cohort (WeBirth) in Hangzhou, China." . _:4ba52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective cohort that since August 2019 has recruited pregnant women aged 18 years or older with gestational diabetes at 24–28 weeks' gestation from the Hangzhou Maternity and Child Health Care Hospital in Hangzhou, China, who intend to deliver there and to stay in Hangzhou with their children for at least four years; it was approved by the institutional review board of Westlake University and integrates multi-omics with precision nutrition research on gestational diabetes."; "PMID:39699891"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ba62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1902; "pregnant women with gestational diabetes recruited August 2019 to August 2023 (2019-2023)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11659911/fullTextXML"; rdfs:comment "Up to August 2023, a total of 1902 participants with GD were recruited in the WeBirth study." . _:4ba72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WeBirth"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21572; , , ; "PGS000832", "PMID:37492423"; "A genetic study of type 2 diabetes in India, funded in part by the Wellcome Trust, whose participants are people with type 2 diabetes treated at the Diabetes Unit of the King Edward Memorial (KEM) Hospital and Research Centre in Pune and associated clinics, with clinical, anthropometric and biochemical measurements made in that unit and genome-wide genotyping performed at the Centre for Cellular and Molecular Biology, Hyderabad."; 3111; "WellGen", "WellGen cohort", "WellGen study", "Wellcome Genetic collection", "Wellcome Trust Genetic Study"; ; rdfs:label "Wellcome Genetics study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21572 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ba82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21572; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10363502/fullTextXML"; rdfs:comment "People with T2D (n = 3111) being treated at the Diabetes Unit, KEM Hospital (Pune, India) and associated clinics were included in the WellGen cohort." . _:4ba92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10363502/fullTextXML"; rdfs:comment "People with T2D (n = 3111) being treated at the Diabetes Unit, KEM Hospital (Pune, India) and associated clinics were included in the WellGen cohort." . _:4baa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000832"; "Polygenic scores of diabetes-related traits in subgroups of type 2 diabetes in India: a cohort study."; "PMID:37492423" . _:4bab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37492423"; "Polygenic scores of diabetes-related traits in subgroups of type 2 diabetes in India: a cohort study."; "PMID:37492423", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37492423+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We previously validated four of the non-autoimmune subgroups in people with young-onset type 2 diabetes (T2D) from the Indian WellGen study." . _:4bac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of type 2 diabetes in India, funded in part by the Wellcome Trust, whose participants are people with type 2 diabetes treated at the Diabetes Unit of the King Edward Memorial (KEM) Hospital and Research Centre in Pune and associated clinics, with clinical, anthropometric and biochemical measurements made in that unit and genome-wide genotyping performed at the Centre for Cellular and Molecular Biology, Hyderabad."; "PMID:37492423"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3111; "people with type 2 diabetes treated at the KEM Hospital Diabetes Unit, Pune, and associated clinics"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10363502/fullTextXML"; rdfs:comment "People with T2D (n = 3111) being treated at the Diabetes Unit, KEM Hospital (Pune, India) and associated clinics were included in the WellGen cohort." . _:4bae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WellGen"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21580; , ; "PMID:21696813"; "A UK family-based collection of white families recruited from the Southampton area, each with at least two biological siblings aged 5 to 21 years with a current physician's diagnosis of asthma who were taking asthma medication regularly, originally recruited in collaboration with Genome Therapeutics Corporation and Schering-Plough for the study that identified ADAM33 as an asthma gene, and later used to test asthma genetic associations by transmission disequilibrium tests."; 1481; "Wessex", "Wessex Family Cohort", "Wessex Family-Based Study"; rdfs:label "Wessex family study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21580 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4baf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21580; "asthma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3185108/"; rdfs:comment "Briefly, the Wessex population consisted of families with at least two biologic siblings with a current physician’s diagnosis of asthma." . _:4bb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3185108/"; rdfs:comment "Isle of Wight 1989–1990 Birth Cohort (IOW) Wessex family study Childhood Asthma Management Program (CAMP) Childhood Asthma Research and Education (CARE) Genetics of Asthma in Latino Americans (GALA) Mexico Childhood Asthma Study International Consortium for SLE Genetics (SLEGEN) Wellcome Trust Case Control Consortium (WTCCC) Location UK UK" . _:4bb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21696813"; "Identification of ATPAF1 as a novel candidate gene for asthma in children."; "PMID:21696813", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3185108/"; rdfs:comment "Transmission disequilibrium tests (TDT) in the Wessex replication population confirmed the association of rs2275380 with asthma diagnosis (Table II)." . _:4bb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK family-based collection of white families recruited from the Southampton area, each with at least two biological siblings aged 5 to 21 years with a current physician's diagnosis of asthma who were taking asthma medication regularly, originally recruited in collaboration with Genome Therapeutics Corporation and Schering-Plough for the study that identified ADAM33 as an asthma gene, and later used to test asthma genetic associations by transmission disequilibrium tests."; "PMID:12728163", "PMID:21696813"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1481; "individuals in the 341 families"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3185108/"; rdfs:comment "341 families; 1,481 individuals" . _:4bb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wessex"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21587; , ; ; "PGS005378", "PMID:21852243"; "A hospital-based breast cancer case-control study at Wake Forest University Health Sciences (Winston-Salem, North Carolina, United States) that from November 1998 enrolled women newly diagnosed with breast cancer, before any therapy, at the Wake Forest University Breast Care Center, and as controls, frequency-matched to cases on age and race, women with normal mammograms and no history of cancer from those attending routine mammography at its Breast Screening and Diagnostic Center; its African-American participants, recruited up to December 2008, were contributed to the African American Breast Cancer Consortium."; 820; 859; "WFBC"; ; rdfs:label "Wake Forest University Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21587 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21587; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3196889/"; rdfs:comment "African-American breast cancer cases and controls in WFBC were recruited at Wake Forest University Health Sciences from November 1998 through December 2008 (51)." . _:4bb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3196889/"; rdfs:comment "African-American breast cancer cases and controls in WFBC were recruited at Wake Forest University Health Sciences from November 1998 through December 2008 (51)." . _:4bb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005378"; "Improved polygenic risk prediction models for breast cancer subtypes in women of African ancestry."; "PMID:41629673" . _:4bb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21852243"; "Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans."; "PMID:21852243", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3196889/"; rdfs:comment "African-American breast cancer cases and controls in WFBC were recruited at Wake Forest University Health Sciences from November 1998 through December 2008 (51)." . _:4bb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based breast cancer case-control study at Wake Forest University Health Sciences (Winston-Salem, North Carolina, United States) that from November 1998 enrolled women newly diagnosed with breast cancer, before any therapy, at the Wake Forest University Breast Care Center, and as controls, frequency-matched to cases on age and race, women with normal mammograms and no history of cancer from those attending routine mammography at its Breast Screening and Diagnostic Center; its African-American participants, recruited up to December 2008, were contributed to the African American Breast Cancer Consortium."; "PMID:18701435", "PMID:21852243"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 820; "cases and controls enrolled in the ongoing case-control study by 1 July 2008"; "https://europepmc.org/api/getPdf?pmcid=PMC2722862"; rdfs:comment "First, this study is part of our second phase of the genotyping effort from an ongoing breast cancer case–control study (820 cases and 859 controls as of 1 July 2008)." . _:4bbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 859; "cases and controls enrolled in the ongoing case-control study by 1 July 2008"; "https://europepmc.org/api/getPdf?pmcid=PMC2722862"; rdfs:comment "First, this study is part of our second phase of the genotyping effort from an ongoing breast cancer case–control study (820 cases and 859 controls as of 1 July 2008)." . _:4bbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WFBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21596; , ; ; "PGS000741", "PMID:33623038"; "A hospital-based case-control study of prostate cancer at Wake Forest University School of Medicine in North Carolina, United States, whose cases and controls (men with normal PSA and digital rectal examination, or with abnormal findings but a negative biopsy) were recruited with blood samples from its Departments of Urology and Internal Medicine between 1998 and 2005; prostate cancer genetics consortia also list it as the Miami-Wake Forest Prostate Cancer Study (MIAMI-WFPCS)."; 488; 524; "MIAMI (WFPCS)", "MIAMI-WFPCS", "Miami-Wake Forest Prostate Cancer Study", "WFPCS", "Wake Forest Prostate Cancer Study"; ; rdfs:label "Wake Forest University Prostate Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21596 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21596; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15342424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The first study used genomic DNA samples from an ongoing, clinic-based case-control study (488 cases and 524 controls) to show that a higher percentage of the CaP cases carried the ADPRT 762 AA genotype than controls (4% versus 2%)." . _:4bbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "MIAMI-WFPCS (n=108) Miami-Wake Forest Prostate Cancer Study North Carolina, USA Case-control" . _:4bbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:4bc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41467-021-21287-0/MediaObjects/41467_2021_21287_MOESM1_ESM.pdf"; rdfs:comment "MIAMI-WFPCS (n=108) Miami-Wake Forest Prostate Cancer Study North Carolina, USA Case-control" . _:4bc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of prostate cancer at Wake Forest University School of Medicine in North Carolina, United States, whose cases and controls (men with normal PSA and digital rectal examination, or with abnormal findings but a negative biopsy) were recruited with blood samples from its Departments of Urology and Internal Medicine between 1998 and 2005; prostate cancer genetics consortia also list it as the Miami-Wake Forest Prostate Cancer Study (MIAMI-WFPCS)."; "PMID:21602798", "PMID:33623038", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001391.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 488; "WFPCS ongoing clinic case-control sample reported in 2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15342424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The first study used genomic DNA samples from an ongoing, clinic-based case-control study (488 cases and 524 controls) to show that a higher percentage of the CaP cases carried the ADPRT 762 AA genotype than controls (4% versus 2%)." . _:4bc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 524; "WFPCS ongoing clinic case-control sample reported in 2004"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15342424+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The first study used genomic DNA samples from an ongoing, clinic-based case-control study (488 cases and 524 controls) to show that a higher percentage of the CaP cases carried the ADPRT 762 AA genotype than controls (4% versus 2%)." . _:4bc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MIAMI-WFPCS"; . _:4bc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WFPCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21606; , , ; "PMID:25429064"; "A case-control genome-wide association study sample of Chinese adults that combines participants of the Dongfeng-Tongji cohort study, a cohort of retired employees of a state-owned automobile enterprise in China, with patients with oesophageal squamous-cell carcinoma recruited at the Cancer Hospital of the Chinese Academy of Medical Sciences in Beijing; it was one of the Stage 1 studies of the 2015 meta-analysis of genome-wide association studies of adult height in East Asians."; 1964; 3425; "WHBJ", "Wuhan-beijing GWA study"; rdfs:label "Wuhan-Beijing GWA study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21606 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21606; "esophageal squamous-cell cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; rdfs:comment "The Wuhan-Beijing GWA study (WHBJ) includes 1,461 subjects from the Dongfeng-tongji cohort study and 1,964 subjects with esophageal squamous-cell cancer from Beijing, China." . _:4bc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; rdfs:comment "The Wuhan-Beijing GWA study (WHBJ) includes 1,461 subjects from the Dongfeng-tongji cohort study and 1,964 subjects with esophageal squamous-cell cancer from Beijing, China." . _:4bc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25429064"; "Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci."; "PMID:25429064", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4351379/"; rdfs:comment "WHBJ (Wuhan-Beijing GWA study): This work was supported by grants from the National Basic Research Program grant (2011CB503800)" . _:4bc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control genome-wide association study sample of Chinese adults that combines participants of the Dongfeng-Tongji cohort study, a cohort of retired employees of a state-owned automobile enterprise in China, with patients with oesophageal squamous-cell carcinoma recruited at the Cancer Hospital of the Chinese Academy of Medical Sciences in Beijing; it was one of the Stage 1 studies of the 2015 meta-analysis of genome-wide association studies of adult height in East Asians."; "PMID:25429064", "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1964; "subjects genotyped in the WHBJ GWAS scan (Dongfeng-Tongji cohort members and Beijing oesophageal squamous-cell carcinoma patients)"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; rdfs:comment "The Wuhan-Beijing GWA study (WHBJ) includes 1,461 subjects from the Dongfeng-tongji cohort study and 1,964 subjects with esophageal squamous-cell cancer from Beijing, China." . _:4bcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3425; "subjects genotyped in the WHBJ GWAS scan (Dongfeng-Tongji cohort members and Beijing oesophageal squamous-cell carcinoma patients)"; "https://pmc.ncbi.nlm.nih.gov/articles/instance/4351379/bin/supp_ddu583_ddu583supp.doc"; rdfs:comment "In total, we genotyped 906,703 SNPs among 3,425 subjects." . _:4bcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHBJ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21614; ; , ; ; "PMID:36797788"; "The randomised clinical trial component of the Women's Health Initiative, in which postmenopausal women aged 50 to 79 enrolled from 1993 to 1998 at the 40 WHI clinical centres in the United States were randomised in three distinct interventions: menopausal hormone therapy versus placebo, calcium and vitamin D supplementation versus placebo, and a low-fat eating pattern versus usual diet, tested for the prevention of coronary heart disease, breast and colorectal cancer, and fractures."; 68132; "WHI CT", "WHI Clinical Trial", "WHI-CT", "Women's Health Initiative Clinical Trials", "Womens Health Initiative - randomized clinical trial"; rdfs:label "Women's Health Initiative Clinical Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21614 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21614; "low-fat eating pattern"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A9492970+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The CT is designed to allow randomized controlled evaluation of three distinct interventions: a low-fat eating pattern, hypothesized to prevent breast cancer and colorectal cancer and, secondarily, coronary heart disease;" . _:4bce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9933300/fullTextXML"; rdfs:comment "The Women Health Initiative (WHI) study is the US nationwide, long-term health study in postmenopausal women, with fragility fracture as one of the major outcomes." . _:4bcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9933300/fullTextXML"; rdfs:comment "From 1993 to 1998, the WHI enrolled 161,808 women aged 50 to 79 in randomized clinical trials (CT) or an observational study (OS)." . _:4bd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36797788"; "Genome-wide polygenic risk score for major osteoporotic fractures in postmenopausal women using associated single nucleotide polymorphisms."; "PMID:36797788", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9933300/fullTextXML"; rdfs:comment "WHI CT examined the effects of menopausal hormone therapy (HT) vs. placebo, calcium and vitamin D supplementation vs. placebo, and low-fat eating patterns vs. usual eating patterns." . _:4bd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The randomised clinical trial component of the Women's Health Initiative, in which postmenopausal women aged 50 to 79 enrolled from 1993 to 1998 at the 40 WHI clinical centres in the United States were randomised in three distinct interventions: menopausal hormone therapy versus placebo, calcium and vitamin D supplementation versus placebo, and a low-fat eating pattern versus usual diet, tested for the prevention of coronary heart disease, breast and colorectal cancer, and fractures."; "PMID:36797788", "PMID:9492970"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 68132; "women enrolled and randomised in the WHI Clinical Trial, 1993-1998"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2608/MediaObjects/41588_2013_BFng2608_MOESM1_ESM.pdf"; rdfs:comment "There are two major components of WHI: (1) a Clinical Trial (CT) that enrolled and randomized 68,132 women ages 50 – 79 into at least one of three placebo-control clinical trials (hormone therapy, dietary modification, and calcium/vitamin D); and (2) an Observational Study (OS) that enrolled 93,676 women of the same age range into a parallel prospective cohort study." . _:4bd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI CT"; . _:4bd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-CT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21623; , ; ; "PMID:22504420"; "A genetic study of hip fracture and bone mineral density within the Women's Health Initiative in the United States, made up of a case-control sample in which all hip fractures in the WHI Clinical Trial and Observational Study up to August 2007 were matched to controls, and a subsample of the WHI bone mineral density cohort, measured at three of the 40 WHI clinical centres, in which women with the best or worst hip bone density Z-scores and physical functioning scores were selected."; 2166; 2490; 4656; "GeCHIP", "Genetic Components of HIP Fracture", "Genetic Components of Hip Fracture", "WHI GeCHIP", "WHI-GeCHIP", "Women's Health Initiative Genetic Components of HIP Fracture (GeCHIP) Consortium", "Womens Health Initiative GeCHIP"; rdfs:label "Women's Health Initiative Genetic Components of HIP Fracture Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21623 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21623; "hip fracture"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "All hip fractures in the WHI Clinical Trial (CT) and Observational Study (OS) through Aug2007 were selected and matched to controls." . _:4bd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "Measurements were made at 3 of 40 US clinical centers (Pittsburgh PA, Birmingham AL, and Tucson/Phoenix AZ)." . _:4bd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "This is a case control sample from the Women's Health Initiative." . _:4bd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22504420"; "Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture."; "PMID:22504420", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "36 WHI GeCHIP ‐ BMD Women's Health Initiative Genetic Components of HIP Fracture (GeCHIP) Consortium ‐ BMD Quasi‐case‐ control." . _:4bd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A genetic study of hip fracture and bone mineral density within the Women's Health Initiative in the United States, made up of a case-control sample in which all hip fractures in the WHI Clinical Trial and Observational Study up to August 2007 were matched to controls, and a subsample of the WHI bone mineral density cohort, measured at three of the 40 WHI clinical centres, in which women with the best or worst hip bone density Z-scores and physical functioning scores were selected."; "PMID:22504420", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2166; "women in the hip fracture case-control GWAS portion of GeCHIP with genotype and fracture data"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "5 WHI GeCHIP ‐ Hip Fracture GWAS All fractures Medical records NA NA 2,166 2,490" . _:4bdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2490; "women in the hip fracture case-control GWAS portion of GeCHIP with genotype and fracture data"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "5 WHI GeCHIP ‐ Hip Fracture GWAS All fractures Medical records NA NA 2,166 2,490" . _:4bdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4656; "women in the hip fracture case-control GWAS portion of GeCHIP with genotype and fracture data"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2249/MediaObjects/41588_2012_BFng2249_MOESM26_ESM.pdf"; rdfs:comment "4,656 Hip fracture portion of GeCHIP. This is a case control sample from the Women's Health Initiative." . _:4bdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GeCHIP"; . _:4bde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI GeCHIP"; . _:4bdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-GeCHIP"; . a owl:NamedIndividual, ; ; , ; ; "PGS000043", "PMID:31676865"; "The hormone therapy component of the Women's Health Initiative: two randomized, double-blind, placebo-controlled trials in which postmenopausal women aged 50 to 79 years were enrolled between 1993 and 1998 at 40 clinical centers across the United States and randomized to estrogen alone (women without a uterus) or estrogen plus progestin versus placebo; the estrogen plus progestin and estrogen-alone trials were stopped early in 2002 and 2004, and participants were then followed without intervention."; 27347; "WHI Hormone Therapy Trials", "WHI-HT", "WHI-HT trials", "Women's Health Initiative Hormone Therapy study", "Womens Health Initiative Hormone Therapy Trial"; ; rdfs:label "Women's Health Initiative Hormone Therapy Trials"@en . _:4be02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3059994/fullTextXML"; rdfs:comment "In this study, we examined the association between PM and VTE and interaction between PM and hormone therapy in a randomized, placebo-controlled trial of estrogen (E) or estrogen plus progestin (E + P) among a large geographically and ethnically diverse population of postmenopausal women living in the United States." . _:4be12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12171572/supplementaryFiles"; rdfs:comment "The WHI Clinical Trials (CT; N=68,132) includes three overlapping components, each a randomized controlled comparison: the Hormone Therapy Trials (HT), Dietary Modification Trial, and Calcium and Vitamin D Trial." . _:4be22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000043"; "Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease."; "PMID:31676865" . _:4be32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31676865"; "Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease."; "PMID:31676865", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6858581/unicode"; rdfs:comment "In total, among 10,975 European women prospectively followed for up to 25 years in the WHI-HT, 690 incident VTE events were identified among participants with genetic data." . _:4be42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The hormone therapy component of the Women's Health Initiative: two randomized, double-blind, placebo-controlled trials in which postmenopausal women aged 50 to 79 years were enrolled between 1993 and 1998 at 40 clinical centers across the United States and randomized to estrogen alone (women without a uterus) or estrogen plus progestin versus placebo; the estrogen plus progestin and estrogen-alone trials were stopped early in 2002 and 2004, and participants were then followed without intervention."; "PMID:21036692", "PMID:31676865"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4be52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27347; "postmenopausal women randomized in the two hormone therapy trials (estrogen plus progestin, estrogen alone), 1993-1998"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6858581/unicode"; rdfs:comment "The WHI-HT initially comprised 27,347 postmenopausal women who were randomized to receive either estrogen plus progestin or estrogen alone versus placebo until the trials were stopped early in July 2002 and March 2004, respectively." . _:4be62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-HT"; . a owl:NamedIndividual, ; , ; ; "PGS000043", "PMID:31676865"; "An ancillary study of the Women's Health Initiative that between March 2012 and May 2013 made a one-time in-person home visit to women of the WHI Extension Study, then aged 63 to 99, to collect a blood sample, a brief clinical assessment, blood pressure, anthropometry and objective physical-function measures; the women added when its study population was expanded in 2012 were genotyped genome-wide as the WHI-LLS GWAS sub-study."; "The acronym LLS also denotes Leiden Longevity Study (COHO:0000107); this term is Women's Health Initiative Long Life Study."@en; 7875; "LLS", "Long Life Study", "WHI LLS", "WHI Long Life Study", "WHI-LLS", "Womens Health Initiative Long Life Study"; ; rdfs:label "Women's Health Initiative Long Life Study"@en . _:4be72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9434234/"; rdfs:comment "In brief, multiethnic postmenopausal women aged 50–79 years were recruited in 40 clinical centers nationwide between 1993 and 1998." . _:4be82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC9434234/"; rdfs:comment "The study population consisted of 7,875 women over 70 years old who enrolled in the WHI-LLS, an ancillary study to the WHI." . _:4be92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000043"; "Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease."; "PMID:31676865" . _:4bea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31676865"; "Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease."; "PMID:31676865", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6858581/unicode"; rdfs:comment "Data used in this analysis included genetic data from WHI-HT participants derived from three separate GWAS sub-studies: 1) the WHI Genomics and Randomized Trials Network study (WHI-GARNET, 457 incident VTE events among 4,233 participants), (2) the WHI Memory Study (WHIMS, 180 incident VTE events among 5,637 participants), and (3) the WHI Long Life Study (WHI-LLS, 53 incident VTE events among 1,105 participants)." . _:4beb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ancillary study of the Women's Health Initiative that between March 2012 and May 2013 made a one-time in-person home visit to women of the WHI Extension Study, then aged 63 to 99, to collect a blood sample, a brief clinical assessment, blood pressure, anthropometry and objective physical-function measures; the women added when its study population was expanded in 2012 were genotyped genome-wide as the WHI-LLS GWAS sub-study."; "PMID:32680817", "PMID:35522983", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-019-0519-3/MediaObjects/41588_2019_519_MOESM1_ESM.pdf"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7875; "women aged 63 to 99 who provided measures at the 2012-2013 home visit"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC7566285/unicode"; rdfs:comment "A total of 7,875 women between the ages of 63 and 99 years provided measures for the WHI-LLS." . _:4bed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LLS"; . _:4bee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI LLS"; . _:4bef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHI-LLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21651, _:genid-371333f489424440b12a13b9d98ced822608-genid21653; , ; ; "PGS000867", "PMID:29047167"; "A population-based prospective birth cohort of healthy newborns from Leidsche Rijn, a residential area near Utrecht in the Netherlands, begun in December 2001 from the University Medical Center Utrecht and embedded in the Utrecht Health Project, with infant and parental lung function, DNA, questionnaires and primary-care records collected to study the determinants of wheezing illnesses; in 2007 it was extended with vascular measurements (WHISTLER-Cardio)."; 2996; "WHISTLER", "WHeezing-Illnesses-STudy-LEidsche-Rijn", "Wheezing-Illnesses-Study-Leidsche-Rijn"; ; rdfs:label "Wheezing Illnesses Study Leidsche Rijn"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21651 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21653 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4bf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21651; "endotoxin exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15499901+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In particular, WHISTLER will provide a well-balanced view on the prognostic power of neonatal lung function and genetic and environmental factors (including viral infections and endotoxin exposure) to predict wheezing illnesses from birth to young adulthood and beyond." . _:4bf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21653; "wheezing illnesses"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15499901+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The aims of WHISTLER are to investigate determinants for wheezing illnesses (including neonatal lung function, viral infections, asthma-susceptibility genes and endotoxin exposure) and to derive a comprehensive risk score, that is appropriate for use in primary health care and allows for efficient planning of early preventive strategies." . _:4bf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10503770/unicode"; rdfs:comment "The study population live in a residential area near the city of Utrecht, the Netherlands, and include those from diverse social, cultural and socioeconomic backgrounds." . _:4bf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A15499901+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Based on actual neonatal care practice and embedded in a larger epidemiological study, the Utrecht Health Project, WHISTLER will provide an unique framework to address issues in childhood respiratory disease that are currently insufficiently understood." . _:4bf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000867"; "The association between a genetic risk score for allergy and the risk of developing allergies in childhood-Results of the WHISTLER cohort."; "PMID:29047167" . _:4bf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29047167"; "The association between a genetic risk score for allergy and the risk of developing allergies in childhood-Results of the WHISTLER cohort."; "PMID:29047167", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A29047167+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The GRS was tested in children who participated in a population-based newborn cohort (WHISTLER) and were followed from birth to school age." . _:4bf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective birth cohort of healthy newborns from Leidsche Rijn, a residential area near Utrecht in the Netherlands, begun in December 2001 from the University Medical Center Utrecht and embedded in the Utrecht Health Project, with infant and parental lung function, DNA, questionnaires and primary-care records collected to study the determinants of wheezing illnesses; in 2007 it was extended with vascular measurements (WHISTLER-Cardio)."; "PMID:15499901", "PMID:37713433"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2996; "healthy newborns enrolled in the birth cohort from 2001 (2023)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC10503770/unicode"; rdfs:comment "This study was part of the WHeezing-Illnesses-STudy-LEidsche-Rijn (WHISTLER) prospective birth cohort of 2996 healthy newborns that commenced in 2001." . _:4bf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHISTLER"; . a owl:NamedIndividual, ; , ; , ; "PGS000814", "PMID:23433573"; "A prospective occupational cohort of British civil servants, men and women aged 35 to 55 working in 20 London-based civil service departments, recruited in 1985–1988 with a clinical examination and questionnaire and re-examined in repeated phases since, set up to investigate the mechanisms, notably psychosocial stress, underlying socioeconomic inequalities in disease."; 10308; "WHII", "Whitehall", "Whitehall II", "Whitehall II study", "Whitehall Study"; ; rdfs:label "Whitehall II Study"@en . _:4bf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3281313/unicode"; rdfs:comment "Setting Civil service departments in London, United Kingdom." . _:4bfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000814"; "Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study."; "PMID:23433573" . _:4bfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23433573"; "Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study."; "PMID:23433573", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23433573+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In November, 2011, we assembled a sample of patients with familial hypercholesterolaemia from three UK-based sources and compared them with a healthy control sample from the UK Whitehall II (WHII) study." . _:4bfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective occupational cohort of British civil servants, men and women aged 35 to 55 working in 20 London-based civil service departments, recruited in 1985–1988 with a clinical examination and questionnaire and re-examined in repeated phases since, set up to investigate the mechanisms, notably psychosocial stress, underlying socioeconomic inequalities in disease."; "PMID:22223828", "PMID:23843750", "PMID:28642251"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4bfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10308; "civil servants aged 35-55 recruited at phase 1 (1985-1988)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5480222/unicode"; rdfs:comment "A total of 10 308 people (6895 men and 3413 women, aged 35-55) were recruited over the years 1985 to 1988." . _:4bfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHII"; . _:4bff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Whitehall"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21669, _:genid-371333f489424440b12a13b9d98ced822608-genid21671, _:genid-371333f489424440b12a13b9d98ced822608-genid21673, _:genid-371333f489424440b12a13b9d98ced822608-genid21675, _:genid-371333f489424440b12a13b9d98ced822608-genid21677, _:genid-371333f489424440b12a13b9d98ced822608-genid21679; , , ; "PGS004323", "PMID:26636906"; "A community-based prospective cohort of residents aged 18 to 80 of sampled communities in Wuhan (Hubei province) and Zhuhai (Guangdong province), China, who had lived there for more than five years, recruited in April–May 2011 in Wuhan and May 2012 in Zhuhai with questionnaires, physical examination, spirometry and blood and urine samples, and followed up every three years to study how exposure to air particulate matter and other environmental pollutants affects the respiratory and cardiovascular systems."; 4812; "WHZH", "Wuhan Zhuhai cohort", "Wuhan-Zhuhai Cohort Study", "Wuhan-Zhuhai cohort", "Wuhan-Zhuhai cohort study"; ; rdfs:label "Wuhan-Zhuhai Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21669 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21675 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21677 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21679 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21669; "particulate air pollution"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "The Wuhan-Zhuhai (WHZH) cohort study, an ongoing community-based cohort study, is designed to investigate the association between long-term particulate air pollution exposure and its components and physiological or pathological reactions or health damages on respiratory and cardiovascular system." . _:4c012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21671; "dyslipidemia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "As the study endpoints, lung function declined, changes of heart rate variability (HRV), hypertension, dyslipidemia, cardiovascular diseases, COPD, and asthma will be studied." . _:4c022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21673; "asthma"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "As the study endpoints, lung function declined, changes of heart rate variability (HRV), hypertension, dyslipidemia, cardiovascular diseases, COPD, and asthma will be studied." . _:4c032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21675; "cardiovascular diseases"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "As the study endpoints, lung function declined, changes of heart rate variability (HRV), hypertension, dyslipidemia, cardiovascular diseases, COPD, and asthma will be studied." . _:4c042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21677; "COPD"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "As the study endpoints, lung function declined, changes of heart rate variability (HRV), hypertension, dyslipidemia, cardiovascular diseases, COPD, and asthma will be studied." . _:4c052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21679; "hypertension"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "As the study endpoints, lung function declined, changes of heart rate variability (HRV), hypertension, dyslipidemia, cardiovascular diseases, COPD, and asthma will be studied." . _:4c062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26636906+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Lung function and 12 urinary PAH metabolites were measured in 2,747 participants from the Wuhan-Zhuhai cohort in China." . _:4c072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004323"; "Gene-environment interaction in long-term effects of polychlorinated biphenyls exposure on glucose homeostasis and type 2 diabetes: The modifying effects of genetic risk and lifestyle."; "PMID:37276697" . _:4c082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26636906"; "Urinary Polycyclic Aromatic Hydrocarbon Metabolites and Altered Lung Function in Wuhan, China."; "PMID:26636906", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26636906+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Lung function and 12 urinary PAH metabolites were measured in 2,747 participants from the Wuhan-Zhuhai cohort in China." . _:4c092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based prospective cohort of residents aged 18 to 80 of sampled communities in Wuhan (Hubei province) and Zhuhai (Guangdong province), China, who had lived there for more than five years, recruited in April–May 2011 in Wuhan and May 2012 in Zhuhai with questionnaires, physical examination, spirometry and blood and urine samples, and followed up every three years to study how exposure to air particulate matter and other environmental pollutants affects the respiratory and cardiovascular systems."; "PMID:25252923"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4812; "residents aged 18-80 enrolled at baseline in Wuhan (2011) and Zhuhai (2012), 2011-2012"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4247123/unicode"; rdfs:comment "The cohort is a community-based prospective study that includes 4812 individuals aged 18–80 years." . _:4c0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHZH"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. WICR is the PGS Catalog's id for the Westmead Institute for Cancer Research, a research institute of the University of Sydney at Westmead (Sydney, Australia). The Catalog records no score or sample set for it, no GWAS Catalog study uses it, and in the literature 'WICR' labels the institute itself: an author affiliation in breast and ovarian cancer genetics papers, and the code of the Sydney/Westmead melanoma-family group in GenoMEL (PMID:18394881). No study or collection is named after it, so it denotes an institution, not a cohort. Samples from Westmead enter named cohorts that COHO already has, such as the Australian Ovarian Cancer Study (COHO:0000014), the Australian Melanoma Family Study (COHO:0001277) and GenoMEL (COHO:0001335), but no source ties the id WICR to any one of them. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete Westmead Institute for Cancer Research"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21687, _:genid-371333f489424440b12a13b9d98ced822608-genid21689; , ; ; "PMID:24096698"; "A population-based pair of case-control studies, one of endometrial cancer and one of breast cancer, among white and African American women aged 50 to 79 in the Philadelphia area of Pennsylvania and New Jersey, United States, examining exogenous hormone use, parity and estrogen-related genes: cases diagnosed between July 1999 and June 2002 were identified through hospitals and the Pennsylvania Cancer Registry, and controls from the same area by random-digit dialling. Its endometrial cancer study is one of the studies of the Epidemiology of Endometrial Cancer Consortium."; "WISE", "Women's Insights and Shared Experiences", "Women's Insights and Shared Experiences study", "Womens Insights and Shared Experiences study"; rdfs:label "Women's Insights and Shared Experiences Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21687 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21689 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21687; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2654370/"; rdfs:comment "The current report represents a subanalysis of the Women's Insights and Shared Experiences Study, a pair of case-control studies examining associations between exogenous hormone use, parity, estrogen-related genes, and endometrial or breast cancer." . _:4c0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21689; "endometrial cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2654370/"; rdfs:comment "The current report represents a subanalysis of the Women's Insights and Shared Experiences Study, a pair of case-control studies examining associations between exogenous hormone use, parity, estrogen-related genes, and endometrial or breast cancer." . _:4c0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/api/getPdf?pmcid=PMC3035652"; rdfs:comment "WISE (Women’s Insights and Shared Experiences) Pennsylvania, USA Population based case-control" . _:4c0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24096698"; "Genome-wide association study of endometrial cancer in E2C2."; "PMID:24096698", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3898362/fullTextXML"; rdfs:comment "The fast-track replication was conducted in a multiethnic sample of 2,294 cases and 3,395 controls from two cohorts [MEC and the Prevention Study II (CPSII) Nutrition cohort] and five case–control studies [the Alberta Health Services (AHS) study, FHCRC, Estrogen, Diet, Genetics, and Endometrial Cancer (EDGE) study, Turin, and Women’s Insights and Shared Experiences (WISE)] (Table 1)." . _:4c102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based pair of case-control studies, one of endometrial cancer and one of breast cancer, among white and African American women aged 50 to 79 in the Philadelphia area of Pennsylvania and New Jersey, United States, examining exogenous hormone use, parity and estrogen-related genes: cases diagnosed between July 1999 and June 2002 were identified through hospitals and the Pennsylvania Cancer Registry, and controls from the same area by random-digit dialling. Its endometrial cancer study is one of the studies of the Epidemiology of Endometrial Cancer Consortium."; "PMID:18757329", "PMID:19028704", "PMID:19124504"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WISE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21695; , ; "PMID:28540026"; "A combination of Californian autism spectrum disorder collections, namely the UCSF/Weiss trios and cases, the UCSF/Hendren cases, the USC/Levitt cases and controls, trios, cases and controls from the CHARGE study at UC Davis and cases and controls of the Autism Phenome Project of the UC Davis MIND Institute, whose samples were genotyped by the laboratory of L. A. Weiss at the University of California, San Francisco, on Affymetrix Axiom EUR arrays, and which contributed its European-American participants to the Psychiatric Genomics Consortium autism GWAS."; "WLAC", "Weiss Laboratory Autism Collections"; rdfs:label "Weiss Laboratory Autism Collection"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21695 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21695; "autism spectrum disorder"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13229-017-0137-9/MediaObjects/13229_2017_137_MOESM1_ESM.docx"; rdfs:comment "The Weiss Laboratory Autism Collections are a combination of Californian cohorts including the UCSF/Weiss (42 trios, 13 cases), UCSF/Hendren" . _:4c132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13229-017-0137-9/MediaObjects/13229_2017_137_MOESM1_ESM.docx"; rdfs:comment "The Weiss Laboratory Autism Collections are a combination of Californian cohorts including the UCSF/Weiss (42 trios, 13 cases), UCSF/Hendren" . _:4c142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28540026"; "Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia."; "PMID:28540026", "https://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13229-017-0137-9/MediaObjects/13229_2017_137_MOESM1_ESM.docx"; rdfs:comment "The contributing Discovery Cohorts are; Autism Centre of Excellence (Geschwind Laboratory) Autism Genome Project (AGP) Autism Genetic Resource Exchange Finnish Autism Collection NIMH Repository and Montreal/Boston Collection Population-based Autism Genetics and Environment Study (PAGES) Simons Simplex Collection (SSC) Weiss Laboratory Autism Collection" . _:4c152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A combination of Californian autism spectrum disorder collections, namely the UCSF/Weiss trios and cases, the UCSF/Hendren cases, the USC/Levitt cases and controls, trios, cases and controls from the CHARGE study at UC Davis and cases and controls of the Autism Phenome Project of the UC Davis MIND Institute, whose samples were genotyped by the laboratory of L. A. Weiss at the University of California, San Francisco, on Affymetrix Axiom EUR arrays, and which contributed its European-American participants to the Psychiatric Genomics Consortium autism GWAS."; "PMID:28540026", "https://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13229-017-0137-9/MediaObjects/13229_2017_137_MOESM1_ESM.docx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WLAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21701; , , ; ; "PMID:20700438"; "A hospital-based case–control study of lung cancer in Wuhan, China, whose cases were consecutive patients with lung cancer at Wuhan Zhongnan Hospital, without restriction on age, sex or histology but excluding those with a previous cancer or an unknown history of radiotherapy or chemotherapy, and whose controls were cancer-free outpatients of other clinics of the same hospital in the same period, frequency-matched to the cases on age, sex and urban or rural residence; all participants were ethnic Chinese. Its never-smoking women were genotyped genome-wide as one of the studies of the Female Lung Cancer Consortium in Asia."; 79; 343; "WHLCS", "WLCS", "Wuhan lung cancer study"; rdfs:label "Wuhan Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21701 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21701; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The WLCS study was carried out in Wuhan, China and has been described elsewhere13 . Cases were consecutively recruited from the Wuhan Zhongnan Hospital." . _:4c182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The WLCS study was carried out in Wuhan, China" . _:4c192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20700438"; "The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia."; "PMID:20700438", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2916850/"; rdfs:comment "The additional replication studies included the Chinese Academy of Medical Sciences Cancer Hospital study (CAMSCH) [16], Wuhan lung cancer study (WHLCS) [17], Seoul National University study (SNU) [18], Korea University Medical Center study (KUMC) [19], Kyungpook National University Hospital study (KNUH) [20] and Shanghai Women's Health Cohort Study (SWHS) [21], [22] (Table 1)." . _:4c1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of lung cancer in Wuhan, China, whose cases were consecutive patients with lung cancer at Wuhan Zhongnan Hospital, without restriction on age, sex or histology but excluding those with a previous cancer or an unknown history of radiotherapy or chemotherapy, and whose controls were cancer-free outpatients of other clinics of the same hospital in the same period, frequency-matched to the cases on age, sex and urban or rural residence; all participants were ethnic Chinese. Its never-smoking women were genotyped genome-wide as one of the studies of the Female Lung Cancer Consortium in Asia."; "PMID:20700438", "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 79; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "WLCS Mainland China 79 0 14 343 57.8(10.7) NA* 58.6(12.4) 59.7( 7.9) NA*" . _:4c1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 343; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "WLCS Mainland China 79 0 14 343 57.8(10.7) NA* 58.6(12.4) 59.7( 7.9) NA*" . _:4c1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WHLCS"; . _:4c1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WLCS"; . a owl:NamedIndividual, ; , , ; "PGS005202", "PMID:40691366"; "A collection of Tibetans recruited at two sites about 4,100 m above sea level on the Tibetan Plateau in Sichuan, western China: at Seda, among people studying or working at the Seda Larong Wuming Buddhist Institute who came from diverse regions of the plateau, and at Litang, among nomadic people who had lived in the area for generations; their blood DNA was genotyped on the Illumina CoreExome array for a study of high-altitude adaptation, and the genotype and phenotype data are held by the Wenzhou Medical University biobank."; 3008; "WMUB", "WMUB-T"; ; rdfs:label "Wenzhou Medical University Biobank - Tibetans"@en . _:4c1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5402460/"; rdfs:comment "The subjects were recruited at two separate sites (Seda and Litang) of the TP in Sichuan, western China" . _:4c202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005202"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:4c212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12443623/supplementaryFiles"; rdfs:comment "Wenzhou Medical University Biobank - Tibetans (WMUB-T) The WMUB-T gratefully acknowledges the contributions of the participants and of the study staff." . _:4c222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of Tibetans recruited at two sites about 4,100 m above sea level on the Tibetan Plateau in Sichuan, western China: at Seda, among people studying or working at the Seda Larong Wuming Buddhist Institute who came from diverse regions of the plateau, and at Litang, among nomadic people who had lived in the area for generations; their blood DNA was genotyped on the Illumina CoreExome array for a study of high-altitude adaptation, and the genotype and phenotype data are held by the Wenzhou Medical University biobank."; "PMID:28373541", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-022-05275-y/MediaObjects/41586_2022_5275_MOESM3_ESM.xlsx"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3008; "Tibetans retained after genotype quality control (analysed subset), 2017"; "https://europepmc.org/api/getPdf?pmcid=PMC5402460"; rdfs:comment "As described above, there were 3,008 Ti- betan and 373 Han subjects collected from the TP after QC." . _:4c242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WMUB"; . _:4c252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WMUB-T"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21717; , ; ; "PGS000082", "PMID:23535730"; "A clinic-based case–control study of ovarian cancer in Warsaw and central Poland, supported by the Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology in Warsaw, whose cases and controls contribute to the genome-wide association studies of the Ovarian Cancer Association Consortium."; 204; 204; "WOC", "WOCS"; ; rdfs:label "Warsaw Ovarian Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21717 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21717; "ovarian cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Warsaw Ovarian Cancer Study WOC Poland: Warsaw and central Poland Case-‐control 204 204 100 202(132)" . _:4c272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Warsaw Ovarian Cancer Study WOC Poland: Warsaw and central Poland Case-‐control 204 204 100 202(132)" . _:4c282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000082"; "Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts."; "PMID:33579919" . _:4c292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23535730"; "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer."; "PMID:23535730", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Warsaw Ovarian Cancer Study WOC Poland: Warsaw and central Poland Case-‐control 204 204 100 202(132)" . _:4c2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A clinic-based case–control study of ovarian cancer in Warsaw and central Poland, supported by the Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology in Warsaw, whose cases and controls contribute to the genome-wide association studies of the Ovarian Cancer Association Consortium."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.3826/MediaObjects/41588_2017_BFng3826_MOESM68_ESM.pdf", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3650102/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 204; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Warsaw Ovarian Cancer Study WOC Poland: Warsaw and central Poland Case-‐control 204 204 100 202(132)" . _:4c2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 204; "cases and controls passing genotyping quality control for the 2013 OCAC study"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2564/MediaObjects/41588_2013_BFng2564_MOESM8_ESM.pdf"; rdfs:comment "Warsaw Ovarian Cancer Study WOC Poland: Warsaw and central Poland Case-‐control 204 204 100 202(132)" . _:4c2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WOC"; . _:4c2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WOCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21727; , ; "PGS000667", "PMID:7572679"; "A primary-prevention trial of men aged 45 to 64 with raised plasma cholesterol, recruited in Scotland and randomised to pravastatin or placebo to test whether lowering serum cholesterol reduces fatal and non-fatal myocardial infarction."; 6595; "WOSCOPS"; ; rdfs:label "West of Scotland Coronary Prevention Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21727 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21727; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1624967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The principal aim is to test the hypothesis that reduction of serum cholesterol by treatment with pravastatin [a competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase--a regulatory enzyme in cholesterol synthesis] over an average period of 5 yr will lead to a reduction in fatal and non-fatal myocardial infarction." . _:4c302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A1624967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This paper describes the design of the West of Scotland Coronary Prevention Study (WOSCOPS) which is a primary prevention trial involving men aged 45-64 yr with raised plasma cholesterol levels." . _:4c312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000667"; "Clinical Utility of Lipoprotein(a) and LPA Genetic Risk Score in Risk Prediction of Incident Atherosclerotic Cardiovascular Disease."; "PMID:33021622" . _:4c322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:7572679"; "The West of Scotland Coronary Prevention Study: a trial of cholesterol reduction in Scottish men."; "PMID:7572679", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7572679+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The West of Scotland Coronary Prevention Study is a primary prevention trial designed to test the hypothesis that reduction of serum cholesterol with pravastatin (a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor) over an average of 5 years will reduce the incidence of fatal and nonfatal myocardial infarction." . _:4c332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A primary-prevention trial of men aged 45 to 64 with raised plasma cholesterol, recruited in Scotland and randomised to pravastatin or placebo to test whether lowering serum cholesterol reduces fatal and non-fatal myocardial infarction."; "PMID:1624967", "PMID:7572679"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:4c342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6595; "WOSCOPS randomized men with raised cholesterol and no previous MI"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A7572679+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "At entry, 6,595 men aged 45-64 years were randomized to treatment with either pravastatin (40 mg/day) or placebo." . _:4c352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WOSCOPS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21735, _:genid-371333f489424440b12a13b9d98ced822608-genid21737, _:genid-371333f489424440b12a13b9d98ced822608-genid21739, _:genid-371333f489424440b12a13b9d98ced822608-genid21741, _:genid-371333f489424440b12a13b9d98ced822608-genid21743, _:genid-371333f489424440b12a13b9d98ced822608-genid21745; , ; "PGS002308", "PMID:35710995"; "A prospective inception cohort of adults starting chronic warfarin therapy with a target INR of 2–3 for venous thromboembolism, stroke or transient ischaemic attack, atrial fibrillation, myocardial infarction or peripheral arterial disease, enrolled at anticoagulation clinics by the University of Alabama at Birmingham and followed at monthly clinic visits for warfarin dose, INR, medications and outcomes, to study genetic and clinical determinants of warfarin response in African American and European American patients."; 1326; "WPC", "Warfarin Pharmacogenetics Cohort"; ; rdfs:label "Warfarin Pharmacogenomics Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21735 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21737 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21739 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21741 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21743 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21745 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21735; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9241245/fullTextXML"; rdfs:comment "Warfarin therapy requiring a target international normalized ratio (INR) range of 2-3 was initiated in patients with venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21737; "myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9241245/fullTextXML"; rdfs:comment "Warfarin therapy requiring a target international normalized ratio (INR) range of 2-3 was initiated in patients with venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21739; "stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9241245/fullTextXML"; rdfs:comment "Warfarin therapy requiring a target international normalized ratio (INR) range of 2-3 was initiated in patients with venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21741; "transient ischemic attacks"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9241245/fullTextXML"; rdfs:comment "Warfarin therapy requiring a target international normalized ratio (INR) range of 2-3 was initiated in patients with venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21743; "peripheral arterial disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9241245/fullTextXML"; rdfs:comment "Warfarin therapy requiring a target international normalized ratio (INR) range of 2-3 was initiated in patients with venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21745; "venous thromboembolism"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9241245/fullTextXML"; rdfs:comment "Warfarin therapy requiring a target international normalized ratio (INR) range of 2-3 was initiated in patients with venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5657532/unicode"; rdfs:comment "The study was conducted under the approval of the Institutional Review Boards of the University of Alabama at Birmingham and Emory University." . _:4c3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002308"; "Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations."; "PMID:35765100" . _:4c3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35710995"; "Genome-wide polygenic score to predict chronic kidney disease across ancestries."; "PMID:35710995", "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC9329233/unicode"; rdfs:comment "WPC is a prospective cohort of first-time warfarin users aged 19 years or older starting anticoagulation for venous thromboembolism, stroke/transient ischemic attacks, atrial fibrillation, myocardial infarction, and/or peripheral arterial disease." . _:4c3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective inception cohort of adults starting chronic warfarin therapy with a target INR of 2–3 for venous thromboembolism, stroke or transient ischaemic attack, atrial fibrillation, myocardial infarction or peripheral arterial disease, enrolled at anticoagulation clinics by the University of Alabama at Birmingham and followed at monthly clinic visits for warfarin dose, INR, medications and outcomes, to study genetic and clinical determinants of warfarin response in African American and European American patients."; "PMID:28806200", "PMID:35765100", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000708.v1.p1"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1326; "warfarin users of the inception cohort analysed in its 2017 paper (African and European Americans)"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5657532/unicode"; rdfs:comment "Baseline characteristics of the 1326 participants (mean age 61.0 years; standard deviation (SD) ± 15.8) are presented in Table 1." . _:4c412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WPC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21753; , ; "PMID:36786861"; "A regional hospital-based register of patients admitted with acute stroke to cooperating hospitals in Westphalia, north-west Germany, with departments of neurology, internal medicine and geriatric medicine taking part, which records a standardised data set of sociodemographic and clinical characteristics, diagnostic and treatment procedures, complications and status at discharge; its case ascertainment was part of the German Competence Net Stroke, and consecutive consenting ischaemic stroke patients recruited through it have been used in genetic studies of stroke."; 12410; "WSR"; rdfs:label "Westphalian Stroke Register"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21753 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21753; "acute stroke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12721875+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data of 12,410 patients from the Westphalian Stroke Register for the years 2000 and 2001." . _:4c432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10130117/fullTextXML"; rdfs:comment "We recruited in a completely anonymized fashion consecutive consenting ischemic stroke patients from hospitals in northwest Germany through the regional Westphalian Stroke Register and from the University Hospital of Greifswald in northeast Germany." . _:4c442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36786861"; "Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke."; "PMID:36786861", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10130117/fullTextXML"; rdfs:comment "We recruited in a completely anonymized fashion consecutive consenting ischemic stroke patients from hospitals in northwest Germany through the regional Westphalian Stroke Register and from the University Hospital of Greifswald in northeast Germany." . _:4c452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A regional hospital-based register of patients admitted with acute stroke to cooperating hospitals in Westphalia, north-west Germany, with departments of neurology, internal medicine and geriatric medicine taking part, which records a standardised data set of sociodemographic and clinical characteristics, diagnostic and treatment procedures, complications and status at discharge; its case ascertainment was part of the German Competence Net Stroke, and consecutive consenting ischaemic stroke patients recruited through it have been used in genetic studies of stroke."; "PMID:12721875", "PMID:15685490", "PMID:23041239", "PMID:36786861"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 12410; "Westphalian Stroke Register records from 2000-2001"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12721875+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We used data of 12,410 patients from the Westphalian Stroke Register for the years 2000 and 2001." . _:4c472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WSR"; . a owl:NamedIndividual; ; rdfs:comment "Obsoleted 2026-09-24. same cohort as review name E1086. WSULC is the PGS Catalog's id for the study the OncoArray lung cancer paper (PMID:28604730) describes under the heading 'The Washington State University Lung Cancer Study' and lists in its study table as the 'Tampa Lung Cancer Study' (acronym Tampa, institution WSU, PI P. Lazarus, hospital case-control 1999-2003): a Moffitt Cancer Center (Tampa, Florida) case-control study run by an investigator now at Washington State University. That study is the placeholder TampaLC (E1086, COHO:0002434, 'Tampa Lung Cancer Study'), so WSULC is the same sample. When E1086 is curated, 'The Washington State University Lung Cancer Study' should be added as a synonym and WSULC as an acronym. Not the Total Lung Cancer Study (TLC, E-row COHO:0002458), which is a separate Moffitt study described next to it. Replaced by COHO:0002434 (Tampa Lung Cancer Study), which now carries this term's names. Found by a check of the placeholder names flagged as institutions or places against their sources, 2026-09-24."@en; rdfs:label "obsolete The Washington State University Lung Cancer Study"@en; owl:deprecated true . a owl:NamedIndividual, ; ; "WT2"; ; rdfs:label "WT2-United Kingdom"@en . _:4c482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WT2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21761; , ; "PGS000733", "PMID:33623038"; "A hospital-based case series of men diagnosed with and managed for prostate cancer, identified through the university clinics of Washington University in St. Louis, Missouri, United States, and recruited from 2004 to 2011, which contributes genotyped cases to the prostate cancer genetic studies of the PRACTICAL consortium."; 1901; "WUGS", "WUPCS"; ; rdfs:label "Washington University Genetics Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21761 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21761; "prostate cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "WUGS (n=898) Washington University Genetics Study St. Louis, USA Case series, hospital-based" . _:4c4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0142-8/MediaObjects/41588_2018_142_MOESM1_ESM.pdf"; rdfs:comment "WUGS/WUPCS Washington University Genetics Study St. Louis USA Cases Series, USA" . _:4c4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000733"; "African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer."; "PMID:32930425" . _:4c4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33623038"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7902617/supplementaryFiles"; rdfs:comment "WUGS (n=898) Washington University Genetics Study St. Louis, USA Case series, hospital-based" . _:4c4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case series of men diagnosed with and managed for prostate cancer, identified through the university clinics of Washington University in St. Louis, Missouri, United States, and recruited from 2004 to 2011, which contributes genotyped cases to the prostate cancer genetic studies of the PRACTICAL consortium."; "PMID:29321194", "PMID:29892016", "PMID:33623038"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1901; "men with newly diagnosed prostate cancer in the hospital-based series, treated August 2004 to August 2011"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf"; rdfs:comment "A hospital-based series of 1901 patients with newly diagnosed prostate cancer, who were treated for prostate cancer" . _:4c4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WUGS"; . _:4c502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WUPCS"; . a owl:NamedIndividual, ; , , ; "PGS004225", "PMID:37432247"; "A population-based cohort of adults aged 30 or older established in Wuxi city, Jiangsu Province, China, in April to June 2007 through random cluster sampling of residents of two communities, with a baseline questionnaire, physical measurements and blood sampling for DNA extraction, followed prospectively to study risk factors for non-communicable diseases such as type 2 diabetes."; 10858; "Wuxi NCDs", "Wuxi NCDs cohort", "Wuxi Non-Communicable Disease cohort"; ; rdfs:label "Wuxi Non-Communicable Diseases cohort"@en . _:4c512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10181480/fullTextXML"; rdfs:comment "The Wuxi Non-Communicable Diseases cohort (Wuxi NCDs cohort) was established from April to June 2007 (baseline) in Wuxi city, Jiangsu Province, China." . _:4c522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004225"; "Polygenic Risk Score, Lifestyles, and Type 2 Diabetes Risk: A Prospective Chinese Cohort Study."; "PMID:37432247" . _:4c532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37432247"; "Polygenic Risk Score, Lifestyles, and Type 2 Diabetes Risk: A Prospective Chinese Cohort Study."; "PMID:37432247", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37432247+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We genotyped 80 genetic variants among 5024 participants without non-communicable diseases at baseline in the Wuxi Non-Communicable Diseases cohort (Wuxi NCDs cohort)." . _:4c542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adults aged 30 or older established in Wuxi city, Jiangsu Province, China, in April to June 2007 through random cluster sampling of residents of two communities, with a baseline questionnaire, physical measurements and blood sampling for DNA extraction, followed prospectively to study risk factors for non-communicable diseases such as type 2 diabetes."; "PMID:37432247"; "Claude Opus 5.5 (Anthropic), 2026-09", "Claude Sonnet 5 (Anthropic), 2026-09" . _:4c552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 10858; "adults aged 30 or older recruited at baseline (April-June 2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10181480/fullTextXML"; rdfs:comment "A total of 10,858 adults aged ≥30 years old were recruited with random cluster sampling from 2 communities." . _:4c562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Wuxi NCDs"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21776; , ; "PGS004865", "PMID:34101481"; "A series of population-based case–control studies of breast cancer run at the University of Wisconsin, whose cases are Wisconsin women with incident breast cancer reported to the statewide cancer registry and whose controls are women without breast cancer randomly selected from lists of licensed drivers and, for women aged 65 or over until 2003, of Medicare beneficiaries, all interviewed by telephone about reproductive history, family cancer history and lifestyle, to study lifestyle and genetic risk factors for breast cancer; it is the Wisconsin part of the Collaborative Breast Cancer Study, which recruited Wisconsin cases from 1988 to 2008."; 16076; 16795; "WWHS", "Wisconsin Womens Health Study", "Wisconsin women's health study"; ; rdfs:label "Wisconsin Women's Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21776 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21776; "breast cancer"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC3645306/unicode"; rdfs:comment "This analysis used data from the breast cancer cases enrolled in the Wisconsin women’s health study (WWHS), a federally funded population-based case–control study designed to examine the associations of lifestyle factors and genetics with breast cancer risk." . _:4c582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC5819606/unicode"; rdfs:comment "The Wisconsin Women’s Health Study was a series of population based case control studies at the University of Wisconsin." . _:4c592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004865"; "Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score."; "PMID:34101481" . _:4c5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34101481"; "Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score."; "PMID:34101481", "https://pmc.ncbi.nlm.nih.gov/articles/PMC8330969/"; rdfs:comment "The two population-based case-control studies are the Women's Circle of Health Study24 and the Wisconsin Women's Health Study.25" . _:4c5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A series of population-based case–control studies of breast cancer run at the University of Wisconsin, whose cases are Wisconsin women with incident breast cancer reported to the statewide cancer registry and whose controls are women without breast cancer randomly selected from lists of licensed drivers and, for women aged 65 or over until 2003, of Medicare beneficiaries, all interviewed by telephone about reproductive history, family cancer history and lifestyle, to study lifestyle and genetic risk factors for breast cancer; it is the Wisconsin part of the Collaborative Breast Cancer Study, which recruited Wisconsin cases from 1988 to 2008."; "PMID:22490319", "PMID:24647890", "PMID:29439783"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16076; "breast cancer cases and controls of the five case-control studies enrolled 1988-2004 (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35772615+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We develop a method to identify geographic patterns of breast cancer odds using the Wisconsin Women's Health Study, a series of 5 population-based case-control studies of female Wisconsin residents aged 20-79 enrolled in 1988-2004 (cases=16,076, controls=16,795)." . _:4c5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16795; "breast cancer cases and controls of the five case-control studies enrolled 1988-2004 (no total stated)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A35772615+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We develop a method to identify geographic patterns of breast cancer odds using the Wisconsin Women's Health Study, a series of 5 population-based case-control studies of female Wisconsin residents aged 20-79 enrolled in 1988-2004 (cases=16,076, controls=16,795)." . _:4c5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WWHS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21785; , , ; ; "PGS005202", "PMID:40691366"; "A Korean genetic study of Avellino corneal dystrophy (granular corneal dystrophy type 2) at the Corneal Dystrophy Research Institute of Yonsei University College of Medicine, Seoul, whose genome-wide genotyped participants have contributed to multi-ancestry meta-analyses of blood lipid levels and body mass index."; 150; "ACD", "YACDS"; ; rdfs:label "Yonsei Avellino Corneal Dystrophy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21785 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21785; "Avellino corneal dystrophy"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "Yonsei Avellino Corneal Dystrophy Study (ACD)" . _:4c602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41586-021-04064-3/MediaObjects/41586_2021_4064_MOESM4_ESM.xlsx"; rdfs:comment "ACD | ACD | South Korea | EAS | 150" . _:4c612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS005202"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366" . _:4c622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM1_ESM.pdf"; rdfs:comment "Yonsei Avellino Corneal Dystrophy Study (ACD)" . _:4c632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Korean genetic study of Avellino corneal dystrophy (granular corneal dystrophy type 2) at the Corneal Dystrophy Research Institute of Yonsei University College of Medicine, Seoul, whose genome-wide genotyped participants have contributed to multi-ancestry meta-analyses of blood lipid levels and body mass index."; "PMID:34887591", "PMID:40691366"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 150; "participants in the GIANT BMI GWAS (Nmax), an analysed subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "ACD | Yonsei Avellino Corneal Dystrophy Study | EAS | 150" . _:4c652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACD"; . _:4c662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YACDS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21794; , ; ; "PMID:21037568"; "A UK population-based case-control study of Hodgkin's disease in young adults aged 16 to 24 years, whose cases were those newly diagnosed between October 1991 and May 1995 in the Yorkshire, Wessex and South West Family Health Service Authority areas and parts of Cumbria and Lancashire, ascertained by the methods of the Leukaemia Research Fund Data Collection Study, and whose controls, two per case, were randomly selected from people registered with general practitioners in the study area and matched on sex, year of birth and area of residence. It was set up to test the late host response model of young adult Hodgkin's disease and whether it differs between Epstein-Barr virus-positive and -negative disease, and its cases were later genotyped for genome-wide association studies of classical Hodgkin lymphoma, among them the European Collaborative Study."; 118; 237; "YAHD", "YHCCS", "Young Adult Hodgkin Case-Control Study", "Young Adult Hodgkin Disease Case-Control Study", "Young Adult Hodgkins Disease Case_Control Study", "Young adult Hodgkin Case-Control Study"; rdfs:label "Young Adult Hodgkin's Disease Case-Control Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21794 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21794; "Hodgkin's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2374437/fullTextXML"; rdfs:comment "A UK population-based case–control study of Hodgkin's disease (HD) in young adults (16–24 years) included 118 cases and 237 controls matched on year of birth, gender and county of residence." . _:4c682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3274508/"; rdfs:comment "The Young Adult Hodgkin’s Disease Case–Control Study is a case–control study of HL in adolescents and young adults (aged 16–24 years) conducted in the United Kingdom in the regions of Yorkshire, Wessex, Southwest Family Health Service Authority areas, and parts of Cumbria and Lancashire between October 1991 and May 1995 (13)." . _:4c692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21037568"; "A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)."; "PMID:21037568", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4268499/fullTextXML"; rdfs:comment "The UK-replication series comprised 524 cHL cases (ICD10 C81.0-3; 290 male, mean AOD=38, SD=16) ascertained from the Scotland and Newcastle Epidemiological Study of Hodgkin Disease (SNEHD), the Young adult Hodgkin Case-Control Study (YHCCS) and the Epidemiology & Genetics Lymphoma Case-Control Study (ELCCS; www.elccs.info)." . _:4c6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK population-based case-control study of Hodgkin's disease in young adults aged 16 to 24 years, whose cases were those newly diagnosed between October 1991 and May 1995 in the Yorkshire, Wessex and South West Family Health Service Authority areas and parts of Cumbria and Lancashire, ascertained by the methods of the Leukaemia Research Fund Data Collection Study, and whose controls, two per case, were randomly selected from people registered with general practitioners in the study area and matched on sex, year of birth and area of residence. It was set up to test the late host response model of young adult Hodgkin's disease and whether it differs between Epstein-Barr virus-positive and -negative disease, and its cases were later genotyped for genome-wide association studies of classical Hodgkin lymphoma, among them the European Collaborative Study."; "PMID:10737396", "PMID:20308568", "PMID:22286212", "PMID:24920014"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 118; "YAHD participants in its own young-adult case-control report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2374437/fullTextXML"; rdfs:comment "A UK population-based case–control study of Hodgkin's disease (HD) in young adults (16–24 years) included 118 cases and 237 controls matched on year of birth, gender and county of residence." . _:4c6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 237; "YAHD participants in its own young-adult case-control report"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2374437/fullTextXML"; rdfs:comment "A UK population-based case–control study of Hodgkin's disease (HD) in young adults (16–24 years) included 118 cases and 237 controls matched on year of birth, gender and county of residence." . _:4c6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YAHD"; . _:4c6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YHCCS"; . a owl:NamedIndividual; rdfs:comment "Obsoleted 2026-09-24. Yale is a university: the PGS Catalog cohort id Yale is the pancreatic cancer consortium’s site label for the Yale case-control sample in the PanScan scores of Graff et al. 2021 and Shi et al. 2019, not a named cohort. Found by the review of 2026-09-24."@en; rdfs:label "obsolete Yale"@en; owl:deprecated true . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21803; , , ; ; "PMID:25516442"; "A case-control study of lung cancer in never-smoking ethnic Chinese women in Yunnan Province, China, that enrolled incident lung cancer cases and controls without a history of cancer, all aged at least 18; it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; 562; 642; "YLCS"; rdfs:label "Yunnan Lung Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21803 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21803; "lung cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "Incident lung cancer cases and controls without history of cancer were enrolled." . _:4c702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "The YLCS enrolled never smoking female cases and never smoking female controls in the Yunnan Province of China." . _:4c712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25516442"; "Genetic variants associated with longer telomere length are associated with increased lung cancer risk among never-smoking women in Asia: a report from the female lung cancer consortium in Asia."; "PMID:25516442", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4733320/"; rdfs:comment "YLCS: Yunnan Lung Cancer Study" . _:4c722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A case-control study of lung cancer in never-smoking ethnic Chinese women in Yunnan Province, China, that enrolled incident lung cancer cases and controls without a history of cancer, all aged at least 18; it is one of the studies pooled in the Female Lung Cancer Consortium in Asia."; "PMID:23143601"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 562; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "YLCS Mainland China 562 179 330 642 54.4(10.8) 51.9(10.2) 56.5(10.7) 54.9(11.2) 534 598 24 40" . _:4c742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 642; "never-smoking female cases and controls in the 2012 FLCCA GWAS subset"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2456/MediaObjects/41588_2012_BFng2456_MOESM34_ESM.pdf"; rdfs:comment "YLCS Mainland China 562 179 330 642 54.4(10.8) 51.9(10.2) 56.5(10.7) 54.9(11.2) 534 598 24 40" . _:4c752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YLCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21811; , , ; "PMID:21771975"; "A multicentre study run from Academia Sinica, Taiwan, of Han Chinese patients with young-onset essential hypertension, first diagnosed between the ages of 20 and 51, with secondary hypertension, diabetes and a body mass index of 35 kg/m2 or more excluded. Lymphoblastoid cell lines were established for its patients, who, with normotensive controls from other Taiwanese studies, have been used in genome-wide association, gene-expression and candidate-gene studies of hypertension, blood pressure, adiponectin and ACE activity."; 1023; "Academia Sinica Multi-Center YOH Genetic Study", "Academia Sinica Multi-Center Young-Onset Hypertension Genetic Study", "Academia Sinica young-onset hypertension multi-center study", "YOHG"; rdfs:label "Academia Sinica Multicentered Young-Onset Hypertension Genetic Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21811 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21811; "young-onset hypertension"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2674219/fullTextXML"; rdfs:comment "We obtained complete genotypic and phenotypic data from 1,008 YOH individuals and established immortalized cell lines from their lymphocytes for the Academia Sinica Multi-Center YOH Genetic Study." . _:4c772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5789005/fullTextXML"; rdfs:comment "Young-onset hypertensive patients were selected from “Academia Sinica Multi-Center Young-Onset Hypertension Genetic Study”, which had recruited 1023 non-aboriginal Taiwanese individuals with essential hypertension aged 20 to 50." . _:4c782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21771975"; "A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes."; "PMID:21771975", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3161336/fullTextXML"; rdfs:comment "In this study, we included 941 hypertensive subjects recruited by the Academia Sinica Multicentered Young-Onset Hypertension Genetic Study: 382 in the first-stage genome-wide scan and 559 in the second-stage confirmatory study." . _:4c792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre study run from Academia Sinica, Taiwan, of Han Chinese patients with young-onset essential hypertension, first diagnosed between the ages of 20 and 51, with secondary hypertension, diabetes and a body mass index of 35 kg/m2 or more excluded. Lymphoblastoid cell lines were established for its patients, who, with normotensive controls from other Taiwanese studies, have been used in genome-wide association, gene-expression and candidate-gene studies of hypertension, blood pressure, adiponectin and ACE activity."; "PMID:19421330", "PMID:21771975", "PMID:23469169", "PMID:29379041"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1023; "Academia Sinica multicenter young-onset hypertension patients in the ACE activity replication study"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3587614/fullTextXML"; rdfs:comment "To confirm the association between ACE activity and ACE variants, ACE activity was measured for another 1023 young-onset hypertension patients from the Academia Sinica young-onset hypertension multi-center study [20], which adopted the same inclusion criteria as described above except for a different age of onset (<50 years)." . _:4c7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YOHG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21818; , ; "PMID:20972438"; "A hospital-based case–control study of urinary bladder cancer in Zaragoza, Spain, whose cases were patients with histologically proven urothelial cell carcinoma of the bladder recruited from the urology and oncology departments of Zaragoza Hospital from 2007 to 2009 and whose controls were individuals who had attended the University Hospital in Zaragoza for diseases other than cancer from 2001 to 2007."; 246; 890; "ZBCS"; rdfs:label "Zaragoza Bladder Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21818 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21818; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "A total of 246 patients with histologically proven urothelial cell carcinoma of the bladder were enrolled (response 77%)." . _:4c7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.687/MediaObjects/41588_2010_BFng687_MOESM14_ESM.pdf"; rdfs:comment "Zaragoza Bladder Cancer Study (ZBCS) 245 1,305 Hospital-based case-control, Zaragoza, Spain" . _:4c7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20972438"; "A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci."; "PMID:20972438", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.687/MediaObjects/41588_2010_BFng687_MOESM14_ESM.pdf"; rdfs:comment "Zaragoza Bladder Cancer Study (ZBCS) 245 1,305 Hospital-based case-control, Zaragoza, Spain" . _:4c7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case–control study of urinary bladder cancer in Zaragoza, Spain, whose cases were patients with histologically proven urothelial cell carcinoma of the bladder recruited from the urology and oncology departments of Zaragoza Hospital from 2007 to 2009 and whose controls were individuals who had attended the University Hospital in Zaragoza for diseases other than cancer from 2001 to 2007."; "PMID:20972438", "PMID:21750109"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 246; "Zaragoza bladder cases enrolled 2007–2009 and paired hospital control collection"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "A total of 246 patients with histologically proven urothelial cell carcinoma of the bladder were enrolled (response 77%)." . _:4c812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 890; "Zaragoza bladder cases enrolled 2007–2009 and paired hospital control collection"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3188988/"; rdfs:comment "The 890 Spanish control individuals were part of a larger collection of control samples obtained from individuals who had attended the University Hospital in Zaragoza, Spain, for diseases other than cancer between November 2001 and May 2007." . _:4c822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ZBCS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21826; , , ; "PGS004912", "PMID:38872215"; "A Chinese genetic sample for colorectal neoplasia drawn from the population-based colorectal cancer screening programme of Jiashan County, Zhejiang Province, made up of a one-to-one matched case-control study conducted from 2015 to 2022 and a cross-sectional colonoscopy screening study performed in 2014, whose participants were genotyped on the Illumina Asian Screening Array."; 1814; 1814; 5980; "ZJCRC", "Zhejiang Colorectal Cancer set"; ; rdfs:label "Zhejiang colorectal cancer set"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21826 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21826; "advanced colorectal neoplasm"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11170922/fullTextXML"; rdfs:comment "A total of 1814 patients with advanced colorectal neoplasm (including 1622 advanced adenoma and 192 cancer cases) and 1814 lesion-free controls were finally included in this study." . _:4c842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11170922/fullTextXML"; rdfs:comment "Participants were recruited from a one-to-one matched case–control study conducted from 2015 to 2022 based on an ongoing population-based CRC screening program running in Jiashan County, Zhejiang Province, China." . _:4c852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS004912"; "Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies."; "PMID:38872215" . _:4c862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38872215"; "Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies."; "PMID:38872215", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A38872215+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Then, the performance of each PRS was assessed and validated in two independent cross-sectional screening sets, including 4600 patients with advanced colorectal neoplasm, 4495 patients with non-advanced adenoma, and 21,199 normal individuals from the ZJCRC (Zhejiang colorectal cancer set; EAS) and PLCO (the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial; European, EUR) studies." . _:4c872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A Chinese genetic sample for colorectal neoplasia drawn from the population-based colorectal cancer screening programme of Jiashan County, Zhejiang Province, made up of a one-to-one matched case-control study conducted from 2015 to 2022 and a cross-sectional colonoscopy screening study performed in 2014, whose participants were genotyped on the Illumina Asian Screening Array."; "PMID:38872215"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4c882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1814; "5980 ZJCRC subjects genotyped; 1814 cases and 1814 controls in its case-control component"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11170922/fullTextXML"; rdfs:comment "A total of 1814 patients with advanced colorectal neoplasm (including 1622 advanced adenoma and 192 cancer cases) and 1814 lesion-free controls were finally included in this study." . _:4c892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1814; "5980 ZJCRC subjects genotyped; 1814 cases and 1814 controls in its case-control component"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11170922/fullTextXML"; rdfs:comment "A total of 1814 patients with advanced colorectal neoplasm (including 1622 advanced adenoma and 192 cancer cases) and 1814 lesion-free controls were finally included in this study." . _:4c8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5980; "5980 ZJCRC subjects genotyped; 1814 cases and 1814 controls in its case-control component"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11170922/fullTextXML"; rdfs:comment "Five thousand nine hundred eighty subjects from ZJCRC case–control set and ZJCRC cross-sectional screening set were genotyped using the Illumina™ Asian Screening Array (ASA) system (Additional file 2: Figure S1, Additional file 1: Table S7)." . _:4c8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ZJCRC"; . a owl:NamedIndividual, ; , ; "GCST90292534"; "An umbrella of three prospective cohorts of nurses: the original Nurses' Health Study established in 1976, Nurses' Health Study II, and Nurses' Health Study 3, which is still enrolling nurses and nursing students in the United States or Canada; together they count more than 275,000 participants and are among the largest prospective investigations into the risk factors for major chronic diseases in women."; 275000; ; rdfs:label "Nurses' Health Studies"@en . _:4c8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://nurseshealthstudy.org/about-nhs/history"; rdfs:comment "The Nurses' Health Study (NHS) and the Nurses' Health Study II (NHS II) are among the largest prospective investigations into the risk factors for major chronic diseases in women." . _:4c8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://nurseshealthstudy.org/about-nhs/history"; rdfs:comment "The Nurses' Health Study (NHS) and the Nurses' Health Study II (NHS II) are among the largest prospective investigations into the risk factors for major chronic diseases in women." . _:4c8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST90292534"; "Sex differences in the polygenic architecture of hearing problems in adults."; "PMID:37165447", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37165447+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Leveraging the UK Biobank, the Nurses' Health Studies (I and II), the Health Professionals Follow-up Study, and the Million Veteran Program, we conducted a comprehensive genome-wide investigation of HP in 748,668 adult participants" . _:4c8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An umbrella of three prospective cohorts of nurses: the original Nurses' Health Study established in 1976, Nurses' Health Study II, and Nurses' Health Study 3, which is still enrolling nurses and nursing students in the United States or Canada; together they count more than 275,000 participants and are among the largest prospective investigations into the risk factors for major chronic diseases in women."; "PMID:40619433", "https://nurseshealthstudy.org/about-nhs", "https://nurseshealthstudy.org/about-nhs/history"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:4c902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 275000; "participants of NHS, NHS II and NHS3 together (stated as more than 275,000)"; "https://nurseshealthstudy.org/about-nhs" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21841; , , , , ; "PMID:27028160"; "A collaboration of Australian and American investigators to identify genes associated with liability for heroin dependence, using a case–control design in which cases met lifetime DSM-IV criteria for heroin dependence and controls were assessed individuals without heroin dependence or unassessed general population controls, with cases and controls drawn from several investigations including the Comorbidity and Trauma Study, Heroin Dependence in Western Australia, the OZ-ALC Study, a twin study of mole development in adolescence and genetic studies of substance dependence at Yale; its data, collected from 2004 to 2009, are held in dbGaP as phs000277."; 6488; "ICGHD"; rdfs:label "International Consortium on the Genetics of Heroin Dependence"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21841 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21841; "heroin dependence"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; rdfs:comment "The project uses a case-control design in which cases met lifetime DSM-IV criteria for heroin dependence." . _:4c922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; rdfs:comment "This collaboration of Australian and American investigators aims to identify genes associated with liability for heroin dependence. The project uses a case-control design in which cases met lifetime DSM-IV criteria for heroin dependence. Controls included assessed individuals who did not meet DSM-IV heroin dependence criteria and unassessed general population controls. Cases and controls were obtained from the several large investigations including: The Comorbidity and Trauma Study, Heroin Dependence in Western Australia, the OZ-ALC Study, a Twin Study of Mole Development in Adolescence, and ongoing genetic studies of substance dependence conducted by investigators at Yale and collaborating institutions." . _:4c932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; rdfs:comment "This collaboration of Australian and American investigators aims to identify genes associated with liability for heroin dependence. The project uses a case-control design in which cases met lifetime DSM-IV criteria for heroin dependence. Controls included assessed individuals who did not meet DSM-IV heroin dependence criteria and unassessed general population controls. Cases and controls were obtained from the several large investigations including: The Comorbidity and Trauma Study, Heroin Dependence in Western Australia, the OZ-ALC Study, a Twin Study of Mole Development in Adolescence, and ongoing genetic studies of substance dependence conducted by investigators at Yale and collaborating institutions." . _:4c942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5656555/"; rdfs:comment "The ICGHD data set consisted of three subsets (CIDR: Center for Inherited Disease Research; RATRP: Research on Alcohol and Tobacco Related Phenotypes; and ARC: Alcohol Related Conditions) that were genotyped using three different arrays." . _:4c952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5656555/"; rdfs:comment "The ICGHD data set consisted of three subsets (CIDR: Center for Inherited Disease Research; RATRP: Research on Alcohol and Tobacco Related Phenotypes; and ARC: Alcohol Related Conditions) that were genotyped using three different arrays." . _:4c962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC5656555/"; rdfs:comment "The ICGHD data set consisted of three subsets (CIDR: Center for Inherited Disease Research; RATRP: Research on Alcohol and Tobacco Related Phenotypes; and ARC: Alcohol Related Conditions) that were genotyped using three different arrays." . _:4c972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27028160"; "Genome-wide Association Study of Cannabis Dependence Severity, Novel Risk Variants, and Shared Genetic Risks."; "PMID:27028160", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27028160+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This genome-wide association study for DSM-IV CAD criterion count was performed in 3 independent substance dependence cohorts (the Yale-Penn Study, Study of Addiction: Genetics and Environment [SAGE], and International Consortium on the Genetics of Heroin Dependence [ICGHD])." . _:4c982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaboration of Australian and American investigators to identify genes associated with liability for heroin dependence, using a case–control design in which cases met lifetime DSM-IV criteria for heroin dependence and controls were assessed individuals without heroin dependence or unassessed general population controls, with cases and controls drawn from several investigations including the Comorbidity and Trauma Study, Heroin Dependence in Western Australia, the OZ-ALC Study, a twin study of mole development in adolescence and genetic studies of substance dependence at Yale; its data, collected from 2004 to 2009, are held in dbGaP as phs000277."; "PMID:27028160", "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:4c992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6488; "consented subjects in the dbGaP study phs000277 (cases and controls)"; "https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000277.v2.p1"; rdfs:comment "Total number of consented subjects: 6488" . _:4c9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICGHD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21852, _:genid-371333f489424440b12a13b9d98ced822608-genid21854, _:genid-371333f489424440b12a13b9d98ced822608-genid21856; ; , ; "PMID:34497075"; "A pooling of four population-based cohorts from Stockholm County, Sweden (the Stockholm Diabetes Prevention Programme, a random sample of 60-year-olds known as SIXTY, the Stockholm-resident participants of the Screening Across the Lifespan Twin study, and the Swedish National Study on Aging and Care in Kungsholmen), recruited between 1992 and 2004 and analysed together to study long-term exposure to ambient air pollution and noise as risk factors for cardiovascular disease."; 22314; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CEANS"; "CEANS", "Cardiovascular Effects of Air Pollution and Noise Study", "Cardiovascular Effects of Air Pollution and Noise in Stockholm study", "Cardiovascular Effects of Air pollution and Noise Study"; ; rdfs:label "Cardiovascular Effects of Air Pollution and Noise in Stockholm"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21852 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21854 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21856 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4c9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21852; "ambient air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8438896/fullTextXML"; rdfs:comment "Recruiting individuals from Stockholm County the Cardiovascular Effects of Air pollution and Noise Study (CEANS) cohort was included." . _:4c9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21854; "noise"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8438896/fullTextXML"; rdfs:comment "Recruiting individuals from Stockholm County the Cardiovascular Effects of Air pollution and Noise Study (CEANS) cohort was included." . _:4c9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21856; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8438896/fullTextXML"; rdfs:comment "Recruiting individuals from Stockholm County the Cardiovascular Effects of Air pollution and Noise Study (CEANS) cohort was included." . _:4c9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8909720/fullTextXML"; rdfs:comment "The four CEANS subcohorts (SNAC-K, SALT, 60 y, and SDPP) were partially funded by the Swedish Environmental Protection Agency" . _:4c9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5817954/fullTextXML"; rdfs:comment "Pooled data from the 4 cohorts from Stockholm, Sweden: SNAC-K, SALT/Twin gene, 60 y/IMPROVE, and SDPP." . _:4ca02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34497075"; "Long-term exposure to particulate air pollution and black carbon in relation to natural and cause-specific mortality: a multicohort study in Sweden."; "PMID:34497075", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8438896/fullTextXML"; rdfs:comment "Recruiting individuals from Stockholm County the Cardiovascular Effects of Air pollution and Noise Study (CEANS) cohort was included." . _:4ca12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A pooling of four population-based cohorts from Stockholm County, Sweden (the Stockholm Diabetes Prevention Programme, a random sample of 60-year-olds known as SIXTY, the Stockholm-resident participants of the Screening Across the Lifespan Twin study, and the Swedish National Study on Aging and Care in Kungsholmen), recruited between 1992 and 2004 and analysed together to study long-term exposure to ambient air pollution and noise as risk factors for cardiovascular disease."; "PMID:29016987", "PMID:34497075", "PMID:35270332"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ca22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22314; "CEANS participants in the pooled 2021 mortality analysis (analysed set of the four sub-cohorts)"; "https://europepmc.org/api/getPdf?pmcid=PMC8438896"; rdfs:comment "Gothenburg, MONICA Gothenburg, PPS Stockholm, CEANS Umeå, VIP Participants (n) 4 500 5 850 22314 42580" . _:4ca32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CEANS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21864, _:genid-371333f489424440b12a13b9d98ced822608-genid21866, _:genid-371333f489424440b12a13b9d98ced822608-genid21868; , ; "PMID:38062070"; "A cohort of adult Danish residents who, since June 2021, have consented through a web application run by Statens Serum Institut to donate the digital receipts of their consumer purchases, linked through their personal identification number to national health registers, to study how purchases, diet and household lifestyle exposures affect health."; 459; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CON"; "CON", "Mine Indkøb", "Mine indkøb kohorten", "My Purchases", "My purchases cohort"; ; rdfs:label "My Purchases cohort"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21864 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21866 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21868 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ca42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21864; "household chemicals"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CON"; rdfs:comment "This project aims to investigate how what we buy, and thus our diet, affects health, by analyzing purchase patterns and health information over time." . _:4ca52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21866; "household lifestyle exposures"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CON"; rdfs:comment "This project aims to investigate how what we buy, and thus our diet, affects health, by analyzing purchase patterns and health information over time." . _:4ca62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21868; "diet from consumer purchases"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CON"; rdfs:comment "This project aims to investigate how what we buy, and thus our diet, affects health, by analyzing purchase patterns and health information over time." . _:4ca72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10703931/fullTextXML"; rdfs:comment "All Danish residents 18 years and older with a valid digital signature (MitID) and an account with the digital receipt solution can donate information about their purchases for research purposes." . _:4ca82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38062070"; "Assessing household lifestyle exposures from consumer purchases, the My Purchases cohort."; "PMID:38062070", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10703931/fullTextXML"; rdfs:comment "The My Purchases cohort has had ongoing recruitment since June 2021." . _:4ca92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of adult Danish residents who, since June 2021, have consented through a web application run by Statens Serum Institut to donate the digital receipts of their consumer purchases, linked through their personal identification number to national health registers, to study how purchases, diet and household lifestyle exposures affect health."; "PMID:38062070", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CON"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4caa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 459; "participants recruited June 2021 to July 2023"; "PMID:38062070"; rdfs:comment "The cohort included 459 participants as of July 03, 2023." . _:4cab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CON"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21875; , ; "PMID:32414410"; "A prospective cohort of persons aged 45 to 64 years in the Netherlands, stratified by age and employment status, followed from 2010 by the Netherlands Organisation for Applied Scientific Research TNO through online questionnaires on work characteristics, health, employment transitions, work ability and productivity, to study sustainable work participation of older workers; a second group was recruited in 2015."; 15118; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/STREAM"; "STREAM", "Study on TRansitions in Employment, Ability and Motivation"; ; rdfs:label "Study on Transitions in Employment, Ability and Motivation"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21875 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21875; "work characteristics"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7227258/fullTextXML"; rdfs:comment "From the inception of the cohort in 2010 (T1) onwards, participants completed an online questionnaire on topics such as work characteristics, health, employment status and transitions, work ability, and work productivity." . _:4cad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7227258/fullTextXML"; rdfs:comment "STREAM is an ongoing prospective cohort among persons aged 45 to 64 years in the Netherlands stratified by age and employment status." . _:4cae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:32414410"; "Long-term sickness absence in a working population: development and validation of a risk prediction model in a large Dutch prospective cohort."; "PMID:32414410", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7227258/fullTextXML"; rdfs:comment "Data from 11,221 working persons included in the prospective Study on Transitions in Employment, Ability and Motivation (STREAM) conducted in the Netherlands were used to develop a multivariable risk prediction model for LTSA lasting ≥28 accumulated working days in the coming year." . _:4caf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of persons aged 45 to 64 years in the Netherlands, stratified by age and employment status, followed from 2010 by the Netherlands Organisation for Applied Scientific Research TNO through online questionnaires on work characteristics, health, employment transitions, work ability and productivity, to study sustainable work participation of older workers; a second group was recruited in 2015."; "PMID:32414410", "PMID:42615545"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15118; "persons in the first STREAM cohort at baseline (T1, 2010)"; "PMID:32414410"; rdfs:comment "This cohort comprised 15,118 persons who participated in STREAM of which 82.2% responded at T2 (N = 12,430)." . _:4cb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STREAM"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21882; , ; "PMID:40205852"; "A cohort of women screened for human papillomavirus and cervical abnormalities in the capital region of Sweden, in the organised screening programme and in non-organised testing, enrolled from 2011 by the Center for Cervical Cancer Elimination at Karolinska Institutet and Karolinska University Hospital, with biobanked cervical samples and individual screening data updated from the Swedish National Cervical Screening Registry (NKCx), for long-term follow-up studies of cervical cancer and other diseases."; 673257; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CSC"; "CSC", "Cervical Screening Cohort", "Cervical screening cohort", "Swedish cervical screening cohort"; ; rdfs:label "Swedish Cervical Screening Cohort"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21882 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21882; "cervical cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11208431/fullTextXML"; rdfs:comment "The Cervical Screening Cohort enrols women screened for human papillomavirus (HPV) and cervical abnormalities within the capital region of Sweden from the organised screening program and the non-organised testing of cervical samples." . _:4cb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11208431/fullTextXML"; rdfs:comment "The CSC contains stored cervical cells from almost the entire screening population of women in the capital region of Stockholm, Sweden." . _:4cb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40205852"; "HPV-KITE: sequence analysis software for rapid HPV genotype detection."; "PMID:40205852", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11982018/fullTextXML"; rdfs:comment "the TCGA dataset and the Swedish cervical screening cohort" . _:4cb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women screened for human papillomavirus and cervical abnormalities in the capital region of Sweden, in the organised screening programme and in non-organised testing, enrolled from 2011 by the Center for Cervical Cancer Elimination at Karolinska Institutet and Karolinska University Hospital, with biobanked cervical samples and individual screening data updated from the Swedish National Cervical Screening Registry (NKCx), for long-term follow-up studies of cervical cancer and other diseases."; "PMID:38926412"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 673257; "women with biobanked cervical samples, 2011 to end of 2021"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11208431/"; rdfs:comment "Number of women with samples Number of samples (from different sampling dates) 23–30 214,575 317,020 31–49 359,743 632,641 50–70 191,906 279,008 All 673,257 (663,387 in above age groups)" . _:4cb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21889; , ; "PMID:39349457"; "A historical birth cohort of singletons born alive and at term in the Wilhelmina Gasthuis in Amsterdam, the Netherlands, around the time of the 1944–1945 Dutch famine (1943–1947), traced and studied by Amsterdam UMC since 1994 through repeated interviews, examinations, biological samples, imaging and registry linkage, to investigate the effects of acute maternal undernutrition during specific stages of gestation on later health, particularly cardiovascular and metabolic disease, ageing and mental health."; 2414; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/DFBC"; "DFBC", "Dutch Famine Birth Cohort study", "Dutch famine birth cohort", "Dutch famine birth cohort study", "Hongerwinter Onderzoek"; ; rdfs:label "Dutch Famine Birth Cohort"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21889 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21889; "acute maternal undernutrition during the 1944-1945 Dutch famine", "prenatal famine exposure"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/DFBC"; rdfs:comment "The cohort was set up to investigate the effects of acute maternal undernutrition during specific stages of gestation on the offspring’s adult health." . _:4cb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=DOI:%2210.1136/bmjopen-2020-042078%22&format=json"; rdfs:comment "Cohort profile: the Dutch famine birth cohort (DFBC)- a prospective birth cohort study in the Netherlands." . _:4cba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39349457"; "Prenatal exposure to undernutrition is associated with a specific lipid profile predicting future brain aging."; "PMID:39349457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11442854/fullTextXML"; rdfs:comment "801 plasma samples of members of the Dutch famine birth cohort were assessed for lipidomics and leptin at age 58." . _:4cbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A historical birth cohort of singletons born alive and at term in the Wilhelmina Gasthuis in Amsterdam, the Netherlands, around the time of the 1944–1945 Dutch famine (1943–1947), traced and studied by Amsterdam UMC since 1994 through repeated interviews, examinations, biological samples, imaging and registry linkage, to investigate the effects of acute maternal undernutrition during specific stages of gestation on later health, particularly cardiovascular and metabolic disease, ageing and mental health."; "PMID:33664071", "https://www.hongerwinter.nl/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2414; "singletons born alive at term in the Wilhelmina Gasthuis 1943-1947 whose birth records were kept"; "PMID:33664071"; rdfs:comment "The Dutch famine birth cohort consists of 2414 singletons born alive and at term in the Wilhelmina Gasthuis in Amsterdam around the time of the Dutch famine (1943–1947) whose birth records have been kept." . _:4cbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21896; , ; "PMID:29752553"; "A prospective, population-based cohort of children born in Skåne, Sweden, between September 2000 and August 2004 who were screened as newborns for risk of type 1 diabetes, with children at increased risk followed with yearly capillary blood samples for islet autoantibodies from two to 15 years of age or until diabetes onset, to investigate the genetic and environmental factors contributing to or triggering type 1 diabetes."; 35683; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/DiPiS"; "DiPiS", "DiPiS study", "Diabetes Prediction in Skåne study"; ; rdfs:label "Diabetes Prediction in Skåne"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21896 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21896; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6060880/fullTextXML"; rdfs:comment "The Diabetes Prediction in Skåne (DiPiS) study is a prospective follow-up of children at risk of T1D in southern Sweden." . _:4cbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30109365%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "The aim of this study was to analyse glycaemic control over a longer period, past the period of partial remission, after diagnosis in children followed before diagnosis in the Swedish Diabetes Prediction in Skåne (DiPiS) study compared with children of equal age not enrolled in pre-diabetes follow-up, receiving equivalent diabetes care." . _:4cc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29752553"; "Influence of early-life parental severe life events on the risk of type 1 diabetes in children: the DiPiS study."; "PMID:29752553", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6060880/fullTextXML"; rdfs:comment "influence the risk of developing type 1 diabetes (T1D) using data from the prospective Diabetes Prediction in Skåne (DiPiS) study." . _:4cc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, population-based cohort of children born in Skåne, Sweden, between September 2000 and August 2004 who were screened as newborns for risk of type 1 diabetes, with children at increased risk followed with yearly capillary blood samples for islet autoantibodies from two to 15 years of age or until diabetes onset, to investigate the genetic and environmental factors contributing to or triggering type 1 diabetes."; "PMID:29752553", "PMID:40664750"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 35683; "newborns screened with cord blood samples at birth, 2000-2004"; "PMID:29752553"; rdfs:comment "35,683 cord blood samples were collected at birth along with basic demographic data." . _:4cc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DiPiS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21903; , ; "PMID:38172606"; "The first French national birth cohort, of children recruited at birth in 2011 in a random sample of maternity units in metropolitan France during 25 selected days spread over the year and followed by the French Institute for Demographic Studies (Ined), Inserm and the French Blood Agency, to study the determinants of development, health and socialisation of children from birth to adulthood through a multidisciplinary approach."; 18329; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELFE"; "ELFE", "ELFE cohort", "Elfe", "Etude Longitudinale Française depuis l'Enfance", "Etude Longitudinale Française depuis l'Enfance\" (French longitudinal study of children)", "French Longitudinal Study of Children", "French Longitudinal Study since Childhood", "French longitudinal study of children", "French national cohort of children"; ; rdfs:label "Étude Longitudinale Française depuis l'Enfance"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21903 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21903; "emerging exogenous pollutants", "environmental contaminants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7266552/fullTextXML"; rdfs:comment "The priority research themes selected for ELFE were:aspects of children's environment that have undergone the most striking changes over recent decades including: modification of nutritional intake; reduction of physical activity; exposure to emerging exogenous pollutants;" . _:4cc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7266552/fullTextXML"; rdfs:comment "A total of 349 maternity units were randomly selected in metropolitan France and the children were recruited at birth from the 320 maternity units that agreed to participate." . _:4cc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38172606"; "Associations between screen viewing at 2 and 3.5 years and drawing ability at 3.5 years among children from the French nationwide Elfe birth cohort."; "PMID:38172606", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:38172606%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Associations between screen viewing at 2 and 3.5 years and drawing ability at 3.5 years among children from the French nationwide Elfe birth cohort." . _:4cc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The first French national birth cohort, of children recruited at birth in 2011 in a random sample of maternity units in metropolitan France during 25 selected days spread over the year and followed by the French Institute for Demographic Studies (Ined), Inserm and the French Blood Agency, to study the determinants of development, health and socialisation of children from birth to adulthood through a multidisciplinary approach."; "PMID:31747017", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELFE"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 18329; "children recruited at birth in 2011"; "PMID:31747017"; rdfs:comment "A total of 18 329 children were recruited at birth in a random sample of maternity units in metropolitan France during 25 selected days of 2011 spread over the year." . _:4cc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELFE"; . _:4cca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Elfe"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21911, _:genid-371333f489424440b12a13b9d98ced822608-genid21913; , ; "MTBLS1684", "PMID:41196593"; "A prospective, population-based birth cohort of mother–newborn pairs recruited at delivery since February 2010 at East-Limburg Hospital (Ziekenhuis Oost-Limburg) in Genk, in the province of Limburg, Belgium, with umbilical cord blood collected at birth and follow-up of the children at 4 to 6 years of age at Hasselt University, to study how environmental exposures in early life influence the biology of human ageing."; 2400; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ENVIRONAGE"; "ENVIRONAGE", "Environmental Influence on Ageing in Early Life", "Environmental Influence on Early Aging", "Limburgs Geboortecohort"; , ; rdfs:label "ENVIRonmental influence ON early AGEing"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21911 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21913 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ccb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21911; "air pollution"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ENVIRONAGE"; rdfs:comment "Within the ongoing population-based prospective birth cohort study ENVIRONAGE we explore new dimensions in the current understanding of human ageing and its interaction with the environment" . _:4ccc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21913; "early-life environmental exposures"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ENVIRONAGE"; rdfs:comment "Within the ongoing population-based prospective birth cohort study ENVIRONAGE we explore new dimensions in the current understanding of human ageing and its interaction with the environment" . _:4ccd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12593129/fullTextXML"; rdfs:comment "The study includes children from a population-based cohort in Belgium recruited between January 1, 2010, and December 31, 2016, with available cord blood appetite hormone levels and participating in follow-up visits." . _:4cce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS1684"; "A multi-omic analysis of birthweight in newborn cord blood reveals new underlying mechanisms related to cholesterol metabolism."; "PMID:32553738", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS1684"; rdfs:comment "Since the results of the omics integration indicated the central role of cholesterol metabolism, we explored the association of cholesterol levels in cord blood with birthweight in the ENVIRONAGE cohort (n=1,097), finding that higher birthweight was associated with increased high-density lipoprotein cholesterol and that high-density lipoprotein cholesterol was lower in small versus large for gestational age newborns." . _:4ccf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41196593"; "Cord Blood Appetite Hormones and Early-Life Growth and Childhood Adiposity in the ENVIRONAGE Cohort."; "PMID:41196593", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12593129/fullTextXML"; rdfs:comment "This prospective birth cohort study was conducted within the Environmental Influence on Early Aging (ENVIRONAGE) birth cohort, with follow-up data collected at 4 to 6 years of age." . _:4cd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, population-based birth cohort of mother–newborn pairs recruited at delivery since February 2010 at East-Limburg Hospital (Ziekenhuis Oost-Limburg) in Genk, in the province of Limburg, Belgium, with umbilical cord blood collected at birth and follow-up of the children at 4 to 6 years of age at Hasselt University, to study how environmental exposures in early life influence the biology of human ageing."; "PMID:41106326", "PMID:41196593", "https://limburgsgeboortecohort.be/", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ENVIRONAGE"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2400; "participants (mother-newborn pairs) enrolled since February 2010, stated as more than 2400"; "https://limburgsgeboortecohort.be/"; rdfs:comment "De studie werd opgestart in februari 2010 in samenwerking met Ziekenhuis Oost-Limburg en kent momenteel al meer dan 2400 deelnemers!" . _:4cd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENVIRONAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21921; , ; "PMID:40205852"; "The participants of a community-randomised phase IV trial in which early adolescents born 1992–1995 and resident in 33 Finnish communities were invited in 2007–2009 and assigned by community to gender-neutral HPV16/18 vaccination, HPV16/18 vaccination of girls with hepatitis B vaccination of boys, or gender-neutral hepatitis B vaccination, and followed up with cervicovaginal sampling from 18.5 years of age, to compare the overall and herd effects of gender-neutral and girls-only HPV vaccination."; 32175; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HPV"; "HPV", "HPV vaccination cohort", "HPV-Rokotiitus", "NCT00534638"; ; rdfs:label "Finnish HPV vaccination cohort"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21921 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21921; "HPV infection"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HPV"; rdfs:comment "Community-randomized HPV vaccination trial cohort: gender-neutral HPV16/18 vaccination arm, girls-only HPV16/18 vaccination and hepatitis B-virus (HBV) vaccination of boys arm, and arm gender-neutral HBV vaccination arm." . _:4cd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:34097688%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "Human papillomavirus seroprevalence in pregnant women following gender-neutral and girls-only vaccination programs in Finland: A cross-sectional cohort analysis following a cluster randomized trial." . _:4cd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40205852"; "HPV-KITE: sequence analysis software for rapid HPV genotype detection."; "PMID:40205852", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11982018/fullTextXML"; rdfs:comment "from the Finnish HPV vaccination cohort" . _:4cd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of a community-randomised phase IV trial in which early adolescents born 1992–1995 and resident in 33 Finnish communities were invited in 2007–2009 and assigned by community to gender-neutral HPV16/18 vaccination, HPV16/18 vaccination of girls with hepatitis B vaccination of boys, or gender-neutral hepatitis B vaccination, and followed up with cervicovaginal sampling from 18.5 years of age, to compare the overall and herd effects of gender-neutral and girls-only HPV vaccination."; "PMID:25593103", "PMID:29055031", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HPV"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 32175; "early adolescents (20,514 girls, 11,661 boys) enrolled in the trial, 2007-2010"; "PMID:25593103"; rdfs:comment "Recruitment resulted in equal enrolment of four birth cohorts (born 1992-1995) comprising altogether 32,175 (40% response) early adolescents: 20,514 girls (50.5-53.0% response by arm) and 11,661 boys (21.9-31.6%% response by arm)." . _:4cd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HPV"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21928; , ; "PMID:39808632"; "An Italian internet-based birth cohort of children born to pregnant women who volunteered through the study website, started as a pilot in Turin in July 2005 and extended to the rest of Italy, with recruitment until 2016 and online questionnaires completed by the mothers during pregnancy and repeatedly through the child's childhood and adolescence, set up to investigate the effects of pre-natal and early post-natal exposures on infant, child and adult health."; 7423; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NINFEA"; "NINFEA", "NINFEA birth cohort", "NINFEA cohort", "NINFEA project", "NINFEA study", "Nascita e INFanzia gli Effetti dell’Ambiente", "Nascita e Infanzia: gli Effetti dell’Ambiente", "Nascita ed INFanzia: gli Effetti dell'Ambiente", "Progetto NINFEA"; ; rdfs:label "Nascita e INFanzia: gli Effetti dell'Ambiente"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21928 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21928; "early life exposures", "pre-natal and early post-natal exposures"; "https://link.springer.com/article/10.1007/s10654-007-9194-2"; rdfs:comment "The NINFEA cohort is an Internet-based birth cohort established in Italy with the aim of investigating the effects of early life exposures on the health of newborns, infants, adolescents and adults." . _:4cda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4526937/fullTextXML"; rdfs:comment "The NINFEA cohort started as a pilot study in the city of Turin, Italy, in July 2005 and has been gradually extended to the rest of Italy." . _:4cdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39808632"; "Maternal occupational exposures during early stages of pregnancy and adverse birth outcomes in the NINFEA birth-cohort."; "PMID:39808632", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11731713/fullTextXML"; rdfs:comment "The study included 3938 nulliparous women from the Italian NINFEA mother-child cohort." . _:4cdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Italian internet-based birth cohort of children born to pregnant women who volunteered through the study website, started as a pilot in Turin in July 2005 and extended to the rest of Italy, with recruitment until 2016 and online questionnaires completed by the mothers during pregnancy and repeatedly through the child's childhood and adolescence, set up to investigate the effects of pre-natal and early post-natal exposures on infant, child and adult health."; "PMID:17955333", "PMID:26071071", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NINFEA", "https://www.progettoninfea.it/index_en"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7423; "participants (pregnant women) recruited 2005-2016"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NINFEA"; rdfs:comment "Number of participants 7423" . _:4cde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NINFEA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21935, _:genid-371333f489424440b12a13b9d98ced822608-genid21937; , ; "PMID:33407552"; "A population-based mother-child cohort of pregnant women living in the prefecture of Heraklion, Crete, Greece, recruited at their first major ultrasound examination around week 12 of gestation at four prenatal clinics in Heraklion from February 2007 to February 2008, and of their children, followed from early pregnancy towards young adulthood to study how environmental, dietary and other early-life exposures affect the health of mothers and children, with a focus on childhood obesity."; 1458; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RHEA"; "Mother-Child Cohort in Crete, Greece", "RHEA", "RHEA - Mother Child Cohort in Crete, Greece", "Rhea cohort", "Rhea mother-child cohort", "Rhea pregnancy cohort", "Rhea project"; ; rdfs:label "Rhea Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21935 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21937 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21935; "Mediterranean diet"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RHEA"; rdfs:comment "The uniqueness of this cohort is that it takes place in the island of Crete where the beneficial effect of the Mediterranean diet was first described during the Seven Countries Study of Cardiovascular Diseases, started at the end of the 1950s." . _:4ce02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21937; "childhood obesity"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RHEA"; rdfs:comment "This has changed dramatically over the last 50 years, and the Rhea cohort was created in response to the rising concerns about the high rates of childhood obesity in Greece" . _:4ce12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4430416/fullTextXML"; rdfs:comment "The present study is part of the “Rhea” project, a pregnancy cohort which examines prospectively a population-based cohort of pregnant women and their children at the prefecture of Heraklion, Crete, Greece" . _:4ce22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33407552"; "Prenatal metal mixtures and child blood pressure in the Rhea mother-child cohort in Greece."; "PMID:33407552", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7789252/fullTextXML"; rdfs:comment "The current study included 176 mother-child pairs from the Rhea Study in Heraklion, Greece" . _:4ce32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based mother-child cohort of pregnant women living in the prefecture of Heraklion, Crete, Greece, recruited at their first major ultrasound examination around week 12 of gestation at four prenatal clinics in Heraklion from February 2007 to February 2008, and of their children, followed from early pregnancy towards young adulthood to study how environmental, dietary and other early-life exposures affect the health of mothers and children, with a focus on childhood obesity."; "PMID:25970502", "PMID:33407552", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RHEA"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ce42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1458; "participants (catalogue entry; unit not stated)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RHEA"; rdfs:comment "Number of participants 1458" . _:4ce52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RHEA"; . a owl:NamedIndividual, ; , ; ; "PMID:31638273"; "The third cohort of the Rotterdam Study, a prospective population-based cohort of inhabitants of Ommoord, a suburb of Rotterdam in the Netherlands, aged 45 and over who had not already been examined in the study (mainly people aged 45 to 54), enrolled from 2006 to 2008 and re-examined periodically to study the causes and course of chronic diseases in mid-life and late life."; 3932; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/RS3"; "RS-III", "RS3", "RSIII", "Rotterdam Study cohort III", "Rotterdam Study third cohort", "Rotterdam Study, third cohort", "third cohort of the Rotterdam Study"; ; rdfs:label "Rotterdam Study III"@en; rdfs:seeAlso . _:4ce62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7250962/fullTextXML"; rdfs:comment "The Rotterdam Study is an ongoing prospective cohort study that started in 1990 in the city of Rotterdam, The Netherlands." . _:4ce72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7250962/fullTextXML"; rdfs:comment "RS-III; third cohort of the Rotterdam Study" . _:4ce82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31638273"; "The cardiovascular risk profile of middle-aged women with polycystic ovary syndrome."; "PMID:31638273", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7003818/fullTextXML"; rdfs:comment "We selected 200 women included in the third cohort of the Rotterdam Study." . _:4ce92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The third cohort of the Rotterdam Study, a prospective population-based cohort of inhabitants of Ommoord, a suburb of Rotterdam in the Netherlands, aged 45 and over who had not already been examined in the study (mainly people aged 45 to 54), enrolled from 2006 to 2008 and re-examined periodically to study the causes and course of chronic diseases in mid-life and late life."; "PMID:31638273", "PMID:32367290"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3932; "subjects aged 45-54 included in the 2006 extension (RS-III), 2006-2008"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7250962/fullTextXML"; rdfs:comment "In 2006, a further extension of the cohort was initiated in which 3932 subjects were included, aged 45–54 years, out of 6057 invited, living in the Ommoord district." . _:4ceb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS-III"; . _:4cec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RS3"; . _:4ced2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RSIII"; . _:4cee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Rotterdam Study third cohort"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21953, _:genid-371333f489424440b12a13b9d98ced822608-genid21955, _:genid-371333f489424440b12a13b9d98ced822608-genid21957; , ; "PMID:34435564"; "A French couple-child cohort of pregnant women, their partners and their children, recruited between July 2014 and July 2017 at eight obstetric ultrasonography practices in the Grenoble area, set up by Inserm, CNRS and University Grenoble Alpes as a research platform with repeated personal exposure measurements and biological sampling during pregnancy and early life, to study the effects of air pollutants, non-persistent endocrine disruptors and other exposures on child growth, respiratory health and neurodevelopment and the biological pathways involved."; 484; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Sepages"; "Assessment of air pollution exposure during pregnancy and effect on health", "SEPAGES", "SEPAGES cohort", "SEPAGES couple-child cohort", "SEPAGES mother-child cohort", "Sepages", "Suivi de l'Exposition à la Pollution Atmosphérique et Effet sur la santé", "Suivi de l’Exposition à la Pollution Atmosphérique durant la Grossesse et Effets sur la Santé"; ; rdfs:label "Suivi de l'Exposition à la Pollution Atmosphérique durant la Grossesse et Effets sur la Santé"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid21953 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21955 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21957 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21953; "air pollution exposure during pregnancy"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Sepages"; rdfs:comment "(1) characterize finely environmental exposures during pregnancy and early life ; (2) evaluate the impact of the environment on mother-child health, focusing on three main outcomes: growth, respiratory health and neurodevelopment" . _:4cf02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21955; "phthalates and DINCH"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Sepages"; rdfs:comment "(1) characterize finely environmental exposures during pregnancy and early life ; (2) evaluate the impact of the environment on mother-child health, focusing on three main outcomes: growth, respiratory health and neurodevelopment" . _:4cf12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21957; "non-persistent endocrine disruptors"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Sepages"; rdfs:comment "(1) characterize finely environmental exposures during pregnancy and early life ; (2) evaluate the impact of the environment on mother-child health, focusing on three main outcomes: growth, respiratory health and neurodevelopment" . _:4cf22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8444084/fullTextXML"; rdfs:comment "The SEPAGES cohort is a French couple-child cohort that recruited 484 pregnant women between July 2014 and July 2017" . _:4cf32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34435564"; "Pre- and early post-natal exposure to phthalates and DINCH in a new type of mother-child cohort relying on within-subject pools of repeated urine samples."; "PMID:34435564", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8444084/fullTextXML"; rdfs:comment "Women of the French SEPAGES mother-child cohort were asked to collect three urine samples per day over seven consecutive days, twice during their pregnancy" . _:4cf42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French couple-child cohort of pregnant women, their partners and their children, recruited between July 2014 and July 2017 at eight obstetric ultrasonography practices in the Grenoble area, set up by Inserm, CNRS and University Grenoble Alpes as a research platform with repeated personal exposure measurements and biological sampling during pregnancy and early life, to study the effects of air pollutants, non-persistent endocrine disruptors and other exposures on child growth, respiratory health and neurodevelopment and the biological pathways involved."; "PMID:31615055", "PMID:34435564"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cf52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 484; "pregnant women (families) recruited July 2014 - July 2017 (2014-2017)"; "PMID:31615055"; rdfs:comment "A total of 484 pregnant women were recruited, with excellent compliance to the repeated urine sampling protocol (median, 43 urine samples per woman during pregnancy)." . _:4cf62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SEPAGES"; . _:4cf72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sepages"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid21965, _:genid-371333f489424440b12a13b9d98ced822608-genid21967, _:genid-371333f489424440b12a13b9d98ced822608-genid21969; , ; "PMID:25874636"; "A 12-week randomised controlled dietary intervention trial of men and women aged 40 to 70 with impaired glucose metabolism and other features of the metabolic syndrome, recruited in 2007–2008 in the Kuopio area of Finland and run by the Department of Clinical Nutrition of the University of Eastern Finland, comparing a healthy Nordic-type diet rich in whole grain products, fatty fish and bilberries and a whole-grain-enriched diet with a control diet for effects on glucose and lipid metabolism, inflammation and endothelial function."; 131; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SYSDIMET"; "Dietary Modulation of Gene Expression and Metabolic Pathways in Glucose Metabolism", "Health Grain intervention", "SYSDIMET", "Sysdimet", "Sysdimet Study", "Systems Biology Approach to Understand Dietary Modulation of Gene Expression and Metabolic Pathways in Subjects With Abnormal Glucose Metabolism"; ; rdfs:label "Sysdimet study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid21965 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21967 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid21969 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4cf82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21965; "cardiovascular disease"; "https://link.springer.com/article/10.1007/s00125-011-2285-3"; rdfs:comment "We recruited individuals with impaired glucose metabolism and features of the metabolic syndrome into a 12 week, parallel design, dietary intervention trial conducted at the Department of Clinical Nutrition, University of Eastern Finland (Kuopio, Finland)." . _:4cf92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21967; "type 2 diabetes"; "https://link.springer.com/article/10.1007/s00125-011-2285-3"; rdfs:comment "We recruited individuals with impaired glucose metabolism and features of the metabolic syndrome into a 12 week, parallel design, dietary intervention trial conducted at the Department of Clinical Nutrition, University of Eastern Finland (Kuopio, Finland)." . _:4cfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid21969; "a diet high in fatty fish, bilberries and wholegrain products", "whole-grain-enriched diet"; "https://link.springer.com/article/10.1007/s00125-011-2285-3"; rdfs:comment "We evaluated whether a diet high in fatty fish, bilberries and wholegrain products (Healthy Diet) improves biomarkers reflecting inflammation and endothelial dysfunction in individuals with impaired glucose metabolism." . _:4cfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3938672/fullTextXML"; rdfs:comment "The trial was conducted at the Department of Clinical Nutrition, University of Eastern Finland (Kuopio, Finland)." . _:4cfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25874636"; "CMPF does not associate with impaired glucose metabolism in individuals with features of metabolic syndrome."; "PMID:25874636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4398480/fullTextXML"; rdfs:comment "In this Sysdimet study, 106 men and women were randomized into three groups" . _:4cfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A 12-week randomised controlled dietary intervention trial of men and women aged 40 to 70 with impaired glucose metabolism and other features of the metabolic syndrome, recruited in 2007–2008 in the Kuopio area of Finland and run by the Department of Clinical Nutrition of the University of Eastern Finland, comparing a healthy Nordic-type diet rich in whole grain products, fatty fish and bilberries and a whole-grain-enriched diet with a control diet for effects on glucose and lipid metabolism, inflammation and endothelial function."; "PMID:21870174", "PMID:24587337", "https://clinicaltrials.gov/study/NCT00573781"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4cfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 131; "individuals randomised to the three diets"; "PMID:21870174"; rdfs:comment "Altogether, 131 individuals were assigned to either the Healthy Diet (n = 44), a whole-grain-enriched diet (WGED) (n = 42) or a control (n = 45) diet, and 104 participants (mean ± SD: age 59 ± 7 years; BMI 31.1 ± 3.5 kg/m(2)) who had completed the study, were analysed (Healthy Diet n = 36, WGED n = 34 and control diet n = 34)." . _:4cff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SYSDIMET"; . _:4d002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sysdimet"; . a owl:NamedIndividual, ; , ; ; "PMID:37196097"; "A nationwide population-based biobank cohort of the women in Finland who have been pregnant since 1983, made up of the first-trimester serum samples left over from the screening for congenital infections offered to all pregnant women, now held by the Northern Finland Biobank Borealis and linkable to national health registers such as the Finnish Cancer Registry and the Medical Birth Register, as a resource for epidemiological, biomarker and surveillance studies of cancer and other diseases."; 1000000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MAT"; "FMC", "Finnish Maternity Cohort Serum Bank", "MAT", "Maternity cohort"; , ; rdfs:label "Finnish Maternity Cohort"@en; rdfs:seeAlso , . _:4d012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5727241/fullTextXML"; rdfs:comment "Because the FMC is nationwide and contains samples from 94% of all Finnish pregnant women 11, very large‐scale over‐generation studies can be designed by linking the identities of the mothers to their offspring and/or relatives 13." . _:4d022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37196097"; "Sexually Transmitted Infections and Risk of Epithelial Ovarian Cancer: Results From the Finnish Maternity Cohort."; "PMID:37196097", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10681868/fullTextXML"; rdfs:comment "We measured antibodies (Abs) to CT, MG, HSV-2, and HPV-16/18 in serum samples in a nested case-control study in the Finnish Maternity Cohort (N = 484 cases 1:1 matched to controls)." . _:4d032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based biobank cohort of the women in Finland who have been pregnant since 1983, made up of the first-trimester serum samples left over from the screening for congenital infections offered to all pregnant women, now held by the Northern Finland Biobank Borealis and linkable to national health registers such as the Finnish Cancer Registry and the Medical Birth Register, as a resource for epidemiological, biomarker and surveillance studies of cancer and other diseases."; "PMID:29071810", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MAT"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1000000; "women with stored serum samples (about 1 million; 2.0 million samples), 2016"; "PMID:29071810"; rdfs:comment "At the end of 2016 the FMC comprised 2.0 million serum samples from about 1 million women." . _:4d052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FMC"; . _:4d062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Finnish Maternity Cohort Serum Bank"; . _:4d072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAT"; . a owl:NamedIndividual, ; , ; "PMID:28626626"; "A prospective community-based cohort of volunteer men and women aged 45–64 years recruited in 2010–2011 from the city of Kielce and its surrounding rural area in south-eastern Poland, with questionnaires and stored blood and urine samples, set up with support from the Polish-Norwegian Research Fund to study health, health-related behaviours and risk factors for chronic diseases and premature mortality."; 13172; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PONS"; "PONS", "PONS cohort", "PONS study", "Polish Norwegian Study"; ; rdfs:label "Polish-Norwegian Study"@en . _:4d082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A25948663+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The PONS cohort is a longitudinal observational regional study collecting information on health and health-related behaviours in the south-eastern part of Poland." . _:4d092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28626626"; "Television viewing time among statin users and non-users. The Polish Norwegian Study (PONS)."; "PMID:28626626", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5466582/fullTextXML"; rdfs:comment "This analysis is based on the cross-sectional, baseline data of the PONS study, from which we excluded participants with incomplete information on relevant covariates (n = 418, 0.3%)." . _:4d0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective community-based cohort of volunteer men and women aged 45–64 years recruited in 2010–2011 from the city of Kielce and its surrounding rural area in south-eastern Poland, with questionnaires and stored blood and urine samples, set up with support from the Polish-Norwegian Research Fund to study health, health-related behaviours and risk factors for chronic diseases and premature mortality."; "PMID:25948663", "PMID:28626626"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 13172; "individuals aged 45-64 in the 2010-11 baseline (2010-2011)"; "PMID:25948663"; rdfs:comment "The baseline data collection contains records for 13 172 individuals (2010-11), between 45 and 64 years of age, from the city of Kielce and surrounding rural area." . _:4d0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PONS"; . a owl:NamedIndividual, ; ; , ; "PMID:22194890"; "A population-based study of men and women aged 20–65 years drawn as random samples of the populations of Amsterdam, Maastricht and Doetinchem in the Netherlands, whose cardiovascular and other chronic disease risk factors were measured by the Municipal Health Services in 1993–1997 in a project supported by the Dutch Ministry of Health, Welfare and Sport and the National Institute for Public Health and the Environment, and who were followed for disease through linkage with national registers."; 22769; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MORGEN"; "MORGEN", "MORGEN Study", "MORGEN-cohort", "MORGEN-project", "MORGEN-study", "Monitoring Project on Chronic Disease Risk Factors", "Monitoring Project on Risk Factors and Chronic Diseases in the Netherlands"; ; rdfs:label "Monitoring Project on Risk Factors for Chronic Diseases"@en . _:4d0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3241680/fullTextXML"; rdfs:comment "The project was carried out in random population samples of Amsterdam (respons rate 33%), Maastricht (43%) and Doetinchem (68%) in the Netherlands." . _:4d0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22194890"; "Paternal and maternal history of myocardial infarction and cardiovascular diseases incidence in a Dutch cohort of middle-aged persons."; "PMID:22194890", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3241680/fullTextXML"; rdfs:comment "In the Monitoring Project on Chronic Disease Risk Factors (MORGEN-project), baseline cardiovascular risk factor data were collected in 1993–1997 in 22 769 men and women aged 20–65 years [23], [24]." . _:4d0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of men and women aged 20–65 years drawn as random samples of the populations of Amsterdam, Maastricht and Doetinchem in the Netherlands, whose cardiovascular and other chronic disease risk factors were measured by the Municipal Health Services in 1993–1997 in a project supported by the Dutch Ministry of Health, Welfare and Sport and the National Institute for Public Health and the Environment, and who were followed for disease through linkage with national registers."; "PMID:22194890"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 22769; "men and women aged 20-65 examined at baseline 1993-1997"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3241680/fullTextXML"; rdfs:comment "In the Monitoring Project on Chronic Disease Risk Factors (MORGEN-project), baseline cardiovascular risk factor data were collected in 1993–1997 in 22 769 men and women aged 20–65 years [23], [24]." . _:4d112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MORGEN"; . a owl:NamedIndividual, ; , ; "PMID:41762673"; "A population-based prospective cohort in Rotterdam, the Netherlands, of women enrolled from August 2017 before conception or during pregnancy, with their partners and children, followed from preconception and fetal life onwards by the Generation R group at Erasmus MC to study the growth, development and health of a new generation of children and their parents."; 3604; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GenR%20Next"; "GenR Next", "Generation R Next", "Generation R Next - Optimaal Opgroeien"; ; rdfs:label "Generation R Next Study"@en; rdfs:seeAlso . _:4d122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11802838/fullTextXML"; rdfs:comment "Participants were enrolled in a population-based prospective cohort, the Generation R Next Study, from fetal life until adulthood in Rotterdam, the Netherlands." . _:4d132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41762673"; "Pregnancy-specific Reference Intervals for TSH and FT4: Novel Insights From Preconception-gestation Longitudinal Data."; "PMID:41762673", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13368358/fullTextXML"; rdfs:comment "This study was embedded within Generation R Next, a population-based prospective cohort from preconception through postpartum in Rotterdam." . _:4d142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort in Rotterdam, the Netherlands, of women enrolled from August 2017 before conception or during pregnancy, with their partners and children, followed from preconception and fetal life onwards by the Generation R group at Erasmus MC to study the growth, development and health of a new generation of children and their parents."; "PMID:39915565", "PMID:41762673", "https://generationr.nl/next", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GenR%20Next"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3604; "participants (women) in the catalogue entry; recruitment ongoing"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GenR%20Next"; rdfs:comment "Number of participants 3604" . _:4d162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenR Next"; . a owl:NamedIndividual, ; , ; "PMID:42241480"; "A register-based cohort of all children born in Finland from 1987 onwards, identified from the Finnish Medical Birth Register and linked with other national health, social and population registers and with data on their parents, held by the University of Oulu (earlier by the Finnish Institute for Health and Welfare) to study how preterm birth, pregnancy disorders and other early-life factors predict health, well-being and societal outcomes from childhood to adulthood, and the intergenerational transmission of health."; 2100000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NORDCAP"; "Keskosina syntyneet lapset ja aikuiset - yhteispohjoismainen tutkimushanke", "NORDCAP", "NORDCAP project", "NORDCAP study", "Nordic Children and Adolescents Born Preterm"; ; rdfs:label "Nordic Children and Adults Born Preterm"@en; rdfs:seeAlso . _:4d172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.oulu.fi/en/projects/nordic-children-and-adults-born-preterm-nordcap"; rdfs:comment "The Finnish study population includes all births in Finland during 1987–2023, identified from the Finnish Medical Birth Register, THL (approximately 2 100 000 children)." . _:4d182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42241480"; "Prognostic Factors for Adulthood Psychosis in Adolescent Psychiatry Services: A Longitudinal Total Birth Cohort Study."; "PMID:42241480", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13235725/fullTextXML"; rdfs:comment "We conducted a longitudinal, register-based total birth cohort study using data from the Nordic Children and Adolescents Born Preterm (NORDCAP) study, governed by the Finnish Institute for Health and Welfare." . _:4d192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A register-based cohort of all children born in Finland from 1987 onwards, identified from the Finnish Medical Birth Register and linked with other national health, social and population registers and with data on their parents, held by the University of Oulu (earlier by the Finnish Institute for Health and Welfare) to study how preterm birth, pregnancy disorders and other early-life factors predict health, well-being and societal outcomes from childhood to adulthood, and the intergenerational transmission of health."; "PMID:42241480", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NORDCAP", "https://www.oulu.fi/en/projects/nordic-children-and-adults-born-preterm-nordcap"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2100000; "all births in Finland 1987-2023 (approximate)"; "https://www.oulu.fi/en/projects/nordic-children-and-adults-born-preterm-nordcap"; rdfs:comment "The Finnish study population includes all births in Finland during 1987–2023, identified from the Finnish Medical Birth Register, THL (approximately 2 100 000 children)." . _:4d1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NORDCAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22004; , ; "PMID:34909561"; "A longitudinal cohort of healthy pregnant and non-pregnant women in Finland, enrolled by the University of Oulu from 2022 within the EU Human Exposome Assessment Platform (HEAP) project and followed for at least four months with wearable personal exposome monitors and repeated biological sampling (blood, saliva, sweat, urine), to pilot personal profiling of chemical and biological exposures."; 100; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/WDC"; "HEAP wearable sensor cohort", "Monitoring exposures during pregnancy with a wearable device", "WDC"; ; rdfs:label "Wearable data collection study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22004 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22004; "exposome estimated from blood, saliva, sweat and personal aerosols", "multiple exposures monitored with wearable exposure sensors"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/WDC"; rdfs:comment "Longitudinal cohort of pregnant and non-pregnant women for exposome estimation from blood, saliva, sweat and personal aerosols." . _:4d1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://api.datacite.org/dois/10.5281/zenodo.7499101"; rdfs:comment "This improved PEM will be used for longitudinal monitoring of pregnant women from the Finnish Maternity Cohort (FMC), which collects data and samples from all pregnant women in Finland." . _:4d1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34909561"; "Human exposome assessment platform."; "PMID:34909561", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8663864/fullTextXML"; rdfs:comment "Some of the pregnant women in the HPV vaccination Cohort (~100 pregnant women) will be followed using an innovative wearable exposure sensors system for the monitoring of multiple exposures and health measurements, to investigate how the exposome influences the health of the mother and the baby." . _:4d1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal cohort of healthy pregnant and non-pregnant women in Finland, enrolled by the University of Oulu from 2022 within the EU Human Exposome Assessment Platform (HEAP) project and followed for at least four months with wearable personal exposome monitors and repeated biological sampling (blood, saliva, sweat, urine), to pilot personal profiling of chemical and biological exposures."; "PMID:34909561", "https://api.datacite.org/dois/10.5281/zenodo.10707225", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/WDC"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100; "healthy pregnant and non-pregnant women"; "https://api.datacite.org/dois/10.5281/zenodo.10707225"; rdfs:comment "The wearablesensor cohort in HEAP consists of healthy pregnant and non-pregnant women (N=100)followed up for at least four months with systematic longitudinal sampling using wearablesdevices and urine sampling." . _:4d212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WDC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22011; , ; "PMID:30011827"; "A prospective population-based cohort of a random, sex- and age-stratified 1% sample of residents of Brno, Czech Republic, aged 25–64 years, drawn from health insurance registries in 2013 and examined at St Anne's University Hospital in Brno, to study how biological, psychosocial, environmental, behavioural and economic factors relate to cardiovascular disease and its outcomes in a Central European urban population."; 2160; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/KARDIOVIZE"; "KARDIOVIZE", "Kardiovize", "Kardiovize Brno 2030 Project", "Kardiovize Brno 2030 study", "Kardiovize Brno cohort", "Kardiovize study"; ; rdfs:label "Kardiovize Brno 2030"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22011 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22011; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A28812915+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Kardiovize Brno 2030 study was designed as a prospective cohort study to investigate the complex relationships of cardiovascular disease and outcomes with a range of biological, psychosocial, environmental, behavioral, and economic factors in an urban population of the Czech Republic." . _:4d232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6073665/fullTextXML"; rdfs:comment "In this cross-sectional study, we used data from the Kardiovize Brno 2030 cohort which included a random sample of residents from the city of Brno, Czech Republic [17]." . _:4d242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30011827"; "Association of Dietary Patterns with Metabolic Syndrome: Results from the Kardiovize Brno 2030 Study."; "PMID:30011827", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6073665/fullTextXML"; rdfs:comment "To explore the complex association of biological, environmental and behavioral risk factors with cardiovascular diseases (CVD), we recently designed the Kardiovize Brno 2030 study, which recruited a randomly-selected sample of residents in an urban population of Brno, Czech Republic [17]." . _:4d252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of a random, sex- and age-stratified 1% sample of residents of Brno, Czech Republic, aged 25–64 years, drawn from health insurance registries in 2013 and examined at St Anne's University Hospital in Brno, to study how biological, psychosocial, environmental, behavioural and economic factors relate to cardiovascular disease and its outcomes in a Central European urban population."; "PMID:28812915", "PMID:34631132"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2160; "participants enrolled at baseline (2013-2014)"; "PMID:28812915"; rdfs:comment "Results The study enrolled 2160 participants (54.8% women), with a mean age of 47 ± 11.3 years." . _:4d272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KARDIOVIZE"; . a owl:NamedIndividual, ; , ; "PMID:42528938"; "A longitudinal birth cohort of the people born in England, Scotland and Wales in a single week of 1970, which began as the British Births Survey and has followed its members' health, physical, educational and social development and economic circumstances through childhood and adult life; it is managed by the Centre for Longitudinal Studies at University College London and core funded by the Economic and Social Research Council."; 17000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BCS%201970"; "1970 British birth cohort", "BCS 1970", "BCS70", "British Births Survey"; ; rdfs:label "1970 British Cohort Study"@en; rdfs:seeAlso . _:4d282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244059/fullTextXML"; rdfs:comment "The 1970 British Cohort Study (BCS70) is an ongoing, multidisciplinary, longitudinal study of a cohort of over 17 000 births in England, Scotland and Wales." . _:4d292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42528938"; "The relationship between resistance exercise and cardiometabolic health: a cross-sectional analysis of the 1970 British cohort study."; "PMID:42528938", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13415302/fullTextXML"; rdfs:comment "This research was conducted using data from the 1970 British Cohort Study (BCS70)." . _:4d2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A longitudinal birth cohort of the people born in England, Scotland and Wales in a single week of 1970, which began as the British Births Survey and has followed its members' health, physical, educational and social development and economic circumstances through childhood and adult life; it is managed by the Centre for Longitudinal Studies at University College London and core funded by the Economic and Social Research Council."; "PMID:35849349", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BCS%201970"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17000; "births in a single week of 1970 (stated as over 17 000)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10244059/fullTextXML"; rdfs:comment "The 1970 British Cohort Study (BCS70) is an ongoing, multidisciplinary, longitudinal study of a cohort of over 17 000 births in England, Scotland and Wales." . _:4d2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCS 1970"; . _:4d2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BCS70"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22024, _:genid-371333f489424440b12a13b9d98ced822608-genid22026; , ; "PMID:36151579"; "A population-based longitudinal cohort of women aged 55 years at recruitment from the industrialised Ruhr Area and rural areas north of it (Borken, Dülmen) in North Rhine-Westphalia, Germany, examined at baseline between 1985 and 1994 and followed up from 2006 onwards; initiated by the State Government of North Rhine-Westphalia to study the health effects of air pollution in women, and run by the IUF – Leibniz Research Institute for Environmental Medicine, Düsseldorf."; 4874; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SALIA"; "SALIA", "Study on Air pollution, Lung function, Inflammation, and Aging", "Study on the influence of Air pollution on Lung function, Inflammation and Aging", "Study on the influence of Air pollution on lung function inflammation and ageing", "Study on the influence of air pollution on lung function, inflammation and ageing"; ; rdfs:label "Study on the influence of Air pollution on Lung function, Inflammation and Ageing"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22024 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22026 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22024; "long-term exposure to particulate matter and NO2 from traffic and industry"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4000047/fullTextXML"; rdfs:comment "The SALIA study was initiated in the early 1980s by the State Government of North-Rhine Westphalia to investigate the health effects of air pollution exposure in women." . _:4d2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22026; "air pollution exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4000047/fullTextXML"; rdfs:comment "The SALIA study was initiated in the early 1980s by the State Government of North-Rhine Westphalia to investigate the health effects of air pollution exposure in women." . _:4d302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4000047/fullTextXML"; rdfs:comment "The study population consists of women from the industrialized Ruhr Area in Germany (Dortmund, Duisburg, Herne, Gelsenkirchen, Essen) and two non-industrialized rural areas north of the Ruhr area (Borken, Dülmen)." . _:4d312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36151579"; "Chronic air pollution-induced subclinical airway inflammation and polygenic susceptibility."; "PMID:36151579", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9508765/fullTextXML"; rdfs:comment "We used data from 296 women (69–79 years) enrolled in the population-based SALIA cohort (Study on the influence of Air pollution on Lung function, Inflammation and Aging)." . _:4d322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based longitudinal cohort of women aged 55 years at recruitment from the industrialised Ruhr Area and rural areas north of it (Borken, Dülmen) in North Rhine-Westphalia, Germany, examined at baseline between 1985 and 1994 and followed up from 2006 onwards; initiated by the State Government of North Rhine-Westphalia to study the health effects of air pollution in women, and run by the IUF – Leibniz Research Institute for Environmental Medicine, Düsseldorf."; "PMID:24645673"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4874; "women aged 55 examined at baseline 1985-1994"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4000047/fullTextXML"; rdfs:comment "Between 1985 and 1994 baseline examinations were conducted in 4874 women who were 55 years of age at time of recruitment." . _:4d342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SALIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22033, _:genid-371333f489424440b12a13b9d98ced822608-genid22035; , ; "PMID:40510537"; "The participants of an 8-week double-blind randomised controlled dietary intervention trial run from 2012 to 2014 by the University of Oslo and the Oslo and Akershus University College of Applied Sciences, Norway, in which adults with moderately elevated cholesterol ate commercial food items in which saturated fat had been replaced by polyunsaturated fat, or control items, to study effects on blood lipids, immune-cell gene expression and blood metabolites."; 115; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NOMA"; "Effect of fat quality on blood lipids and immune response", "Fat quality on blood lipids and immune response", "NOMA", "NOMA study", "NoMa"; ; rdfs:label "NoMa study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22033 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22035 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22033; "moderate hypercholesterolemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6499508/fullTextXML"; rdfs:comment "We recently conducted an 8-wk, double-blind, randomized controlled trial replacing SFAs with PUFAs in healthy subjects with moderate hypercholesterolemia (n = 99)." . _:4d362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22035; "replacing saturated fat with polyunsaturated fat in commercial food items"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NOMA"; rdfs:comment "This randomized controlled trial aimed to investigate the health effects of replacing food items with a high content of saturated fatty acids with food items where a large portion of the saturated fat had been replaced with polyunsaturated fat." . _:4d372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6499508/fullTextXML"; rdfs:comment "We conducted an 8-wk, double-blind, randomized controlled dietary intervention study at the Oslo and Akershus University College of Applied Sciences and the University of Oslo, Norway, from July 2012 until April 2014." . _:4d382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40510537"; "Exposure to fine particulate matter in adults is associated with immune cell gene expression related to inflammation, the electron transport chain, and cell cycle regulation."; "PMID:40510537", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12159804/fullTextXML"; rdfs:comment "This study is a part of the LongITools project and includes cross-sectional data from the Rotterdam Study, a population-based cohort study, and NoMa, a randomized controlled trial." . _:4d392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of an 8-week double-blind randomised controlled dietary intervention trial run from 2012 to 2014 by the University of Oslo and the Oslo and Akershus University College of Applied Sciences, Norway, in which adults with moderately elevated cholesterol ate commercial food items in which saturated fat had been replaced by polyunsaturated fat, or control items, to study effects on blood lipids, immune-cell gene expression and blood metabolites."; "PMID:31051508", "https://www.med.uio.no/imb/english/research/projects/noma/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 115; "subjects randomly assigned (2012-2014)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6499508/fullTextXML"; rdfs:comment "In short, 701 subjects were assessed for eligibility, 115 were randomly assigned, 100 completed the study, and 99 were analyzed independent of the compliance (Supplemental Figure 1)." . _:4d3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NOMA"; . _:4d3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NoMa"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22043, _:genid-371333f489424440b12a13b9d98ced822608-genid22045; , ; "PMID:41664457"; "A cross-sectional national health examination and nutrition survey of a representative sample of adults aged 18 years and over in Greece, drawn by two-stage stratified random sampling across all prefectures and examined between June 2013 and December 2014 by the Hellenic Health Foundation, following European Health Examination Survey and EFSA methodology, to describe the population's dietary intake, nutritional status and health."; 4011; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HYDRIA"; "Greek HYDRIA survey", "HYDRIA", "HYDRIA 2013–2014 National Health and Nutrition study", "HYDRIA survey", "National Health and Nutrition Survey -HYDRIA"; ; rdfs:label "National Health and Nutrition Survey – HYDRIA"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22043 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22045 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22043; "adherence to the Mediterranean diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8949101/fullTextXML"; rdfs:comment "The study design for the HYDRIA survey followed the recommendations of the European Health Examination Survey (EHES) [18] and the European Food Safety Authority (EFSA) [19] for the collection of health and dietary data at a national level, allowing for intercountry comparisons." . _:4d3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22045; "dietary intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8949101/fullTextXML"; rdfs:comment "The study design for the HYDRIA survey followed the recommendations of the European Health Examination Survey (EHES) [18] and the European Food Safety Authority (EFSA) [19] for the collection of health and dietary data at a national level, allowing for intercountry comparisons." . _:4d3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13423517/fullTextXML"; rdfs:comment "As part of the HYDRIA 2013–2014 National Health and Nutrition study, a cross-sectional survey of a nationally representative sample of adults in Greece, serum ferritin levels (SFL) were measured in participants aged ≥ 55 years, and dietary intake was assessed using two non-consecutive 24-h dietary recalls per participant." . _:4d402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8949101/fullTextXML"; rdfs:comment "The HYDRIA survey sampling frame covered all the 51 prefectures of the 13 regions of the country [3]." . _:4d412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41664457"; "Serum ferritin levels in a sample of older participants in the Greek HYDRIA survey: associations with sociodemographic and lifestyle parameters including dietary iron intake and Mediterranean diet score."; "PMID:41664457", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13423517/fullTextXML"; rdfs:comment "As part of the HYDRIA 2013–2014 National Health and Nutrition study, a cross-sectional survey of a nationally representative sample of adults in Greece, serum ferritin levels (SFL) were measured in participants aged ≥ 55 years, and dietary intake was assessed using two non-consecutive 24-h dietary recalls per participant." . _:4d422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional national health examination and nutrition survey of a representative sample of adults aged 18 years and over in Greece, drawn by two-stage stratified random sampling across all prefectures and examined between June 2013 and December 2014 by the Hellenic Health Foundation, following European Health Examination Survey and EFSA methodology, to describe the population's dietary intake, nutritional status and health."; "PMID:35334847"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4011; "adults aged 18+ who took part in the 2013-2014 survey"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13423517/fullTextXML"; rdfs:comment "HYDRIA is a large nationally representative Greek survey that investigated food, macronutrient and micronutrient intakes in a sample of 4011 adults over 18 years of age, providing observations and conclusions on population health in relation to the nutritional status of the population." . _:4d442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HYDRIA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22053, _:genid-371333f489424440b12a13b9d98ced822608-genid22055; , ; "PMID:25370913"; "The participants of a randomised crossover dietary intervention trial started in 2011 by the University of Eastern Finland with VTT Technical Research Centre of Finland, within the FIBREFECTS project, in which adults with self-reported gastrointestinal symptoms after eating grain products ate white wheat bread during a run-in and then wholegrain rye bread and wheat bread enriched with bioprocessed rye bran, to study the effects of modified cereal fibre on glucose metabolism, gut fermentation and gut-mediated health."; 23; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/FEF"; "FEF", "FIBREFECTS", "Fibrefects", "Fibrefects - Grain fibre modification for gut-mediated health effects", "Grain Fibre Modification for Gut-Mediated Health Effects", "Grain Fibre and Gut Health", "Grain fiber modification for gut mediated health effects", "Grain fibre modification for gut-mediated health effects", "NCT03550365"; ; rdfs:label "Grain Fibre Modification for Gut-mediated Health Effects"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22053 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22055 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22053; "wholegrain rye bread"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4230797/fullTextXML"; rdfs:comment "The aim was to investigate whether the white wheat bread enriched with bioprocessed rye bran (BRB + WW) promotes similar effects to WGR on glucose metabolism and plasma levels of SCFAs in healthy subjects with self-reported gastrointestinal symptoms." . _:4d462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22055; "wheat bread enriched with bioprocessed rye bran"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4230797/fullTextXML"; rdfs:comment "The aim was to investigate whether the white wheat bread enriched with bioprocessed rye bran (BRB + WW) promotes similar effects to WGR on glucose metabolism and plasma levels of SCFAs in healthy subjects with self-reported gastrointestinal symptoms." . _:4d472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4230797/fullTextXML"; rdfs:comment "The study was approved by the Ethics Committee of the Hospital District of Northern Savo." . _:4d482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25370913"; "Postprandial glucose metabolism and SCFA after consuming wholegrain rye bread and wheat bread enriched with bioprocessed rye bran in individuals with mild gastrointestinal symptoms."; "PMID:25370913", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4230797/fullTextXML"; rdfs:comment "This study was carried out as a part of the FIBREFECTS (Grain fiber modification for gut mediated health effects) funded mainly by TEKES – The Finnish Funding Agency for Technology and Innovation – and to a smaller extent by Oy Karl Fazer Ab, Vaasan Oy, and Ravintoraisio Oy." . _:4d492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of a randomised crossover dietary intervention trial started in 2011 by the University of Eastern Finland with VTT Technical Research Centre of Finland, within the FIBREFECTS project, in which adults with self-reported gastrointestinal symptoms after eating grain products ate white wheat bread during a run-in and then wholegrain rye bread and wheat bread enriched with bioprocessed rye bran, to study the effects of modified cereal fibre on glucose metabolism, gut fermentation and gut-mediated health."; "PMID:25370913", "https://clinicaltrials.gov/study/NCT03550365"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23; "subjects recruited (21 completed)"; "https://europepmc.org/api/getPdf?pmcid=PMC4230797"; rdfs:comment "Twenty-one (12 women) of 23 recruited subjects completed an intervention with a four-week run-in and two four-week test periods in cross-over design." . _:4d4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FEF"; . _:4d4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FIBREFECTS"; . _:4d4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Fibrefects"; . _:4d4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCT03550365"; . a owl:NamedIndividual, ; , ; "PMID:36191030"; "An Italian multicentre prospective birth cohort of newborns recruited from October 2011 to March 2015 in six maternity units in Florence, Rome, Trieste, Turin and Viareggio, with maternal blood, cord blood and other samples stored in a biobank at the Istituto Superiore di Sanità and follow-up by questionnaires through childhood, set up to study the effects of environmental exposures, parental conditions and social factors in pre- and early post-natal life on child health and development."; 3358; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Piccolipiù"; "Piccolipiù", "Piccolipiù Italian birth cohort", "Piccolipiù cohort", "Piccolipiù study", "Progetto Piccolipiù"; ; rdfs:label "Piccolipiù birth cohort"@en . _:4d4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3926689/fullTextXML"; rdfs:comment "Piccolipiù is a prospective cohort of expected 3000 newborns, who will be recruiting in six maternity units of five Italian cities (Florence, Rome, Trieste, Turin and Viareggio) since October 2011." . _:4d502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36191030"; "Unintentional injuries and potential determinants of falls in young children: Results from the Piccolipiù Italian birth cohort."; "PMID:36191030", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9529104/fullTextXML"; rdfs:comment "Piccolipiù is the name of a birth cohort of 3,358 children enrolled in six maternity wards located in five Italian cities (Florence, Rome, Trieste, Turin, and Viareggio) between October 2011 and March 2015 [26]." . _:4d512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An Italian multicentre prospective birth cohort of newborns recruited from October 2011 to March 2015 in six maternity units in Florence, Rome, Trieste, Turin and Viareggio, with maternal blood, cord blood and other samples stored in a biobank at the Istituto Superiore di Sanità and follow-up by questionnaires through childhood, set up to study the effects of environmental exposures, parental conditions and social factors in pre- and early post-natal life on child health and development."; "PMID:24506846", "PMID:36191030"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3358; "children enrolled October 2011 - March 2015 (2011-2015)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9529104/fullTextXML"; rdfs:comment "Piccolipiù is the name of a birth cohort of 3,358 children enrolled in six maternity wards located in five Italian cities (Florence, Rome, Trieste, Turin, and Viareggio) between October 2011 and March 2015 [26]." . _:4d532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Piccolipiù"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22070, _:genid-371333f489424440b12a13b9d98ced822608-genid22072, _:genid-371333f489424440b12a13b9d98ced822608-genid22074; , ; "PMID:38826077"; "The participants of a randomised controlled weight-management trial run from 2008 to 2010 by the Institute of Public Health and Clinical Nutrition, University of Kuopio (now University of Eastern Finland), Finland, in which adults aged 30–65 with obesity followed a very-low-energy diet and were then randomised to weight-maintenance diets containing foods of higher or lower predetermined satiety value, to study whether food satiety value affects self-regulation of food intake and weight management."; 99; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELIPA"; "ELIPA", "Elintarvikkeita Painonhallintaan", "Elintarvikkeita painonhallintaan", "Foods for Weight Maintenance", "Foods for weight management (Elintarvikkeita painonhallintaan)", "Foods for weight management: a randomized controlled trial", "ISRCTN67529475"; ; rdfs:label "Foods for weight management"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22070 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22072 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22074 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22070; "obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3389694/fullTextXML"; rdfs:comment "Originally 99 (28 males, 71 females) obese (inclusion criteria being body mass index (BMI) 30–40 kg/m2, age 30–65 years) subjects were recruited into the intervention study." . _:4d552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22072; "very-low-energy diet"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELIPA"; rdfs:comment "This study aimed to investigate factors associated with weight management, especially whether satiety value of food as a part of a weight-maintenance diet would affect self-regulation of food intake and weight management." . _:4d562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22074; "satiety value of foods in a weight-maintenance diet"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELIPA"; rdfs:comment "This study aimed to investigate factors associated with weight management, especially whether satiety value of food as a part of a weight-maintenance diet would affect self-regulation of food intake and weight management." . _:4d572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3389694/fullTextXML"; rdfs:comment "They were recruited by an announcement in a local newspaper and among the eligible subjects who had participated previously in the studies performed at the University of Kuopio, Kuopio, Finland (currently University of Eastern Finland)." . _:4d582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38826077"; "Association between whole-grain consumption, tryptophan metabolism and psychological distress: a secondary analysis of a randomised controlled trial."; "PMID:38826077", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11473202/fullTextXML"; rdfs:comment "The study was registered in isrctn.org with the identifier 67529475." . _:4d592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of a randomised controlled weight-management trial run from 2008 to 2010 by the Institute of Public Health and Clinical Nutrition, University of Kuopio (now University of Eastern Finland), Finland, in which adults aged 30–65 with obesity followed a very-low-energy diet and were then randomised to weight-maintenance diets containing foods of higher or lower predetermined satiety value, to study whether food satiety value affects self-regulation of food intake and weight management."; "PMID:22792447", "https://www.isrctn.com/ISRCTN67529475"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 99; "obese subjects recruited (28 men, 71 women)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3389694/fullTextXML"; rdfs:comment "Originally 99 (28 males, 71 females) obese (inclusion criteria being body mass index (BMI) 30–40 kg/m2, age 30–65 years) subjects were recruited into the intervention study." . _:4d5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELIPA"; . _:4d5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISRCTN67529475"; . a owl:NamedIndividual, ; , ; , , ; "PMID:42006753"; "A French general-purpose population-based cohort of adults aged 18–69 years at inclusion, randomly sampled from people covered by the national health insurance fund (CNAMTS) and included from the end of 2012 through health examinations at selected Health Screening Centres across France, with yearly questionnaires, periodic examinations, a biobank and linkage to national social and health databases; run by Inserm as a research infrastructure with a focus on occupational and social factors, chronic diseases and ageing."; 220000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CONSTANCES"; "CONSTANCES", "CONSTANCES cohort", "Cohorte des Consultants des Centres d’Examens de Santé", "French CONSTANCES population-based cohort"; , ; rdfs:label "Constances"@en; rdfs:seeAlso , . _:4d5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4690834/fullTextXML"; rdfs:comment "Thanks to our partnership with CNAMTS, we are including the cohort participants in 22 selected HSCs located in 19 “départements” in different regions of France (Fig." . _:4d5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42006753"; "Prevalence and profiles of adverse childhood experiences: a French nationwide study using the CONSTANCES cohort."; "PMID:42006753", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:42006753%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "A cross-sectional observational study was conducted using retrospective data from the CONSTANCES cohort, a large population-based cohort study in France, including adults aged 18 to 69 years at enrolment." . _:4d5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French general-purpose population-based cohort of adults aged 18–69 years at inclusion, randomly sampled from people covered by the national health insurance fund (CNAMTS) and included from the end of 2012 through health examinations at selected Health Screening Centres across France, with yearly questionnaires, periodic examinations, a biobank and linkage to national social and health databases; run by Inserm as a research infrastructure with a focus on occupational and social factors, chronic diseases and ageing."; "PMID:26520638"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 220000; "adults aged 18-69 enrolled 2012-2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13084877/fullTextXML"; rdfs:comment "We used data from Constances, a prospective cohort study of the French population, that includes 220 000 participants aged 18 to 69 at enrolment between 2012 and 2020." . _:4d612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CONSTANCES"; . a owl:NamedIndividual, ; , ; "PMID:34046850"; "A prospective birth cohort of children born between June 2003 and October 2004 in two hospitals in Rome, Italy, to mothers resident in the district of the Local Health Unit RME, followed up through childhood as a pilot for a national Italian birth cohort, to study genetic and environmental influences on child health."; 719; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GASPII"; "GASPII", "GASPII birth cohort", "IT-GASPII", "gene and environment prospective study on infancy in Italy"; ; rdfs:label "Gene and Environment: Prospective Study on Infancy in Italy"@en . _:4d622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3888562/fullTextXML"; rdfs:comment "GASPII (Gene and Environment: Prospective Study on Infancy in Italy) is a prospective birth cohort of children born during 2003–2004 in Rome, Italy" . _:4d632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34046850"; "Prenatal and postnatal exposure to acetaminophen in relation to autism spectrum and attention-deficit and hyperactivity symptoms in childhood: Meta-analysis in six European population-based cohorts."; "PMID:34046850", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8542535/fullTextXML"; rdfs:comment "We included six European population-based birth cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC), DNBC, Gene and Environment: Prospective Study on Infancy in Italy (GASPII), the Generation R Study, INMA (including four subcohorts), and the Mother–Child Cohort in Crete (RHEA) (Methods S1)." . _:4d642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of children born between June 2003 and October 2004 in two hospitals in Rome, Italy, to mothers resident in the district of the Local Health Unit RME, followed up through childhood as a pilot for a national Italian birth cohort, to study genetic and environmental influences on child health."; "PMID:18326421", "PMID:24149084"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 719; "children enrolled at birth 2003-2004 (with 704 mothers)"; "PMID:18326421"; rdfs:comment "The cohort consisted of 704 women (54% of the contacted) and 719 children." . _:4d662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GASPII"; . _:4d672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IT-GASPII"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22093, _:genid-371333f489424440b12a13b9d98ced822608-genid22095; , ; "PMID:27067890"; "A prospective birth cohort of pregnant women living in Kaunas municipality, Lithuania, recruited in the first trimester at four prenatal care clinics of the Kaunas University of Medicine hospitals from 2007, first as the Kaunas cohort of the EU HiWATE project on drinking-water contaminants and pregnancy outcomes, and their children, later followed up in childhood and within the HELIX exposome project."; 3294; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/KANC"; "HiWATE cohort study", "KANC", "KANC cohort", "KANC newborns cohort study"; ; rdfs:label "Kaunas cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22093 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22095 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22093; "drinking water disinfection by-products during pregnancy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "Concentrations of drinking water disinfection by-products (DBPs) during pregnancy were estimated from water company concentration and distribution data as part of the water contaminants and stillbirth, congenital anomalies, birth weight, preterm delivery (HiWate) project in four of the cohorts (BiB, KANC, INMA, RHEA)." . _:4d692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22095; "early-life exposome (HELIX)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6144482/fullTextXML"; rdfs:comment "Concentrations of drinking water disinfection by-products (DBPs) during pregnancy were estimated from water company concentration and distribution data as part of the water contaminants and stillbirth, congenital anomalies, birth weight, preterm delivery (HiWate) project in four of the cohorts (BiB, KANC, INMA, RHEA)." . _:4d6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2672398/fullTextXML"; rdfs:comment "Within a prospective cohort study in Kaunas (Lithuania), a nested case-control study on LBW and IUGR occurrence among 646 women with genotyping of GSTT1 and GSTM1 polymorphisms who delivered live singletons was conducted." . _:4d6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27067890"; "Associations between neighbourhood greenness and asthma in preschool children in Kaunas, Lithuania: a case-control study."; "PMID:27067890", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4838715/fullTextXML"; rdfs:comment "In 2012–2013, we invited the KANC cohort of 3294 mothers and their 4−6-year-old children to participate in this study." . _:4d6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of pregnant women living in Kaunas municipality, Lithuania, recruited in the first trimester at four prenatal care clinics of the Kaunas University of Medicine hospitals from 2007, first as the Kaunas cohort of the EU HiWATE project on drinking-water contaminants and pregnancy outcomes, and their children, later followed up in childhood and within the HELIX exposome project."; "PMID:19440446", "PMID:30206078"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3294; "mothers in the KANC newborn cohort (with their children), 2012"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4838715/fullTextXML"; rdfs:comment "In 2012–2013, we invited the KANC cohort of 3294 mothers and their 4−6-year-old children to participate in this study." . _:4d6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KANC"; . a owl:NamedIndividual, ; , ; ; "PMID:38820320"; "A follow-up study, begun in 2019 at Masaryk University in Brno, Czech Republic, of the young adults born in 1991 and 1992 who took part in the Czech arm of the European Longitudinal Study of Pregnancy and Childhood, joined by their siblings and partners and by others born in those years, who are examined clinically, give blood, urine and buccal samples and answer questionnaires, to study how lifestyle, social and environmental factors relate to early signs of chronic disease."; 967; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CELSPAC-YA"; "CELSPAC-YA", "CELSPAC: YA"; ; rdfs:label "Central European Longitudinal Studies of Parents and Children: Young Adults"@en . _:4d6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11142448/fullTextXML"; rdfs:comment "Young Adults cohort is an on-going follow-up study of the Czech part of the ELSPAC birth cohort (European Longitudinal Study of Pregnancy and Childhood) that was initiated in 1991–1992 in the Czech Republic, in Brno and Znojmo region." . _:4d702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11142448/fullTextXML"; rdfs:comment "Young Adults cohort is an on-going follow-up study of the Czech part of the ELSPAC birth cohort (European Longitudinal Study of Pregnancy and Childhood) that was initiated in 1991–1992 in the Czech Republic, in Brno and Znojmo region." . _:4d712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38820320"; "Association between muscle strength and depression in a cohort of young adults."; "PMID:38820320", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11142448/fullTextXML"; rdfs:comment "This observational population-based study originates from the Central European Longitudinal Studies of Parents and Children: Young Adults (CELSPAC: YA)." . _:4d722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A follow-up study, begun in 2019 at Masaryk University in Brno, Czech Republic, of the young adults born in 1991 and 1992 who took part in the Czech arm of the European Longitudinal Study of Pregnancy and Childhood, joined by their siblings and partners and by others born in those years, who are examined clinically, give blood, urine and buccal samples and answer questionnaires, to study how lifestyle, social and environmental factors relate to early signs of chronic disease."; "PMID:38820320", "https://www.celspac.cz/youngadults"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 967; "analysed subset: participants examined 2019-2023 with surveys and knee strength testing"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11142448/fullTextXML"; rdfs:comment "From a total of 967 participants, 909 young adult participants meet the inclusion criteria and were retained and analyzed in this study." . _:4d742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CELSPAC-YA"; . _:4d752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CELSPAC: YA"; . a owl:NamedIndividual, ; ; , ; "PMID:41444967"; "The Czech arm of the European Longitudinal Study of Pregnancy and Childhood initiated by the WHO Regional Office for Europe: a population-based prospective birth cohort of children born in 1991 and 1992 in the Brno and Znojmo regions of South Moravia, Czech Republic, and their parents, followed from pregnancy into early adulthood by questionnaires, medical records and examinations to study biological, psychosocial, economic and environmental influences on pregnancy, delivery, child development and health, and now held by RECETOX at Masaryk University."; 7589; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ELSPAC"; "Czech ELSPAC study", "ELSPAC", "ELSPAC-CZ", "European Longitudinal Cohort Study of Pregnancy and Childhood"; ; rdfs:label "European Longitudinal Study of Pregnancy and Childhood"@en . _:4d762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837270/fullTextXML"; rdfs:comment "The birth cohort consists of children born in the Brno and Znojmo regions (South Moravia, Czech Republic) in 1991 and 1992." . _:4d772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41444967"; "Adverse childhood experiences and adolescent externalizing and internalizing problems in the ELSPAC-CZ cohort."; "PMID:41444967", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12849584/fullTextXML"; rdfs:comment "Data were obtained from the Czech arm of the European Longitudinal Study of Pregnancy and Childhood (ELSPAC-CZ), a multi-site population-based birth cohort." . _:4d782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Czech arm of the European Longitudinal Study of Pregnancy and Childhood initiated by the WHO Regional Office for Europe: a population-based prospective birth cohort of children born in 1991 and 1992 in the Brno and Znojmo regions of South Moravia, Czech Republic, and their parents, followed from pregnancy into early adulthood by questionnaires, medical records and examinations to study biological, psychosocial, economic and environmental influences on pregnancy, delivery, child development and health, and now held by RECETOX at Masaryk University."; "PMID:27380795"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7589; "children born 1991-1992 with medical-record data at baseline"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5837270/fullTextXML"; rdfs:comment "Information on 7589 children (5738 children from Brno and 1851 children from Znojmo regions, including 81 twins and one set of triplets) was collected from medical records during the first study wave (96% of all eligible births)." . _:4d7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELSPAC"; . _:4d7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELSPAC-CZ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22115, _:genid-371333f489424440b12a13b9d98ced822608-genid22117, _:genid-371333f489424440b12a13b9d98ced822608-genid22119; , ; "PMID:21367690"; "A mother-child cohort set up by INSERM in Rennes of pregnant women enrolled before the 19th week of gestation by gynaecologists, obstetricians and ultrasonographers in three départements of Brittany, France, between 2002 and 2006, whose children are followed from birth through childhood into young adulthood, to study the effects of prenatal and childhood exposure to environmental and occupational chemicals such as pesticides on pregnancy, fertility and child development."; 3421; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PELAGIE"; "PELAGIE", "PELAGIE birth cohort", "PELAGIE mother-child cohort", "Perturbateurs endocriniens: Étude Longitudinale sur les Anomalies de la Grossesse, l’Infertilité et l’Enfance", "PÉLAGIE"; ; rdfs:label "Perturbateurs Endocriniens: Étude Longitudinale sur les Anomalies de la Grossesse, l’Infertilité et l’Enfance"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22115 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22117 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22119 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22115; "prenatal exposure to environmental and occupational chemicals"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PELAGIE"; rdfs:comment "The PELAGIE mother-child cohort was set up with the aim to study the effect of prenatal exposure to environmental and occupational chemicals on reproduction and child development." . _:4d7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22117; "pesticides (triazine and chloroacetanilide herbicides)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PELAGIE"; rdfs:comment "The PELAGIE mother-child cohort was set up with the aim to study the effect of prenatal exposure to environmental and occupational chemicals on reproduction and child development." . _:4d7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22119; "endocrine disruptors"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PELAGIE"; rdfs:comment "The PELAGIE mother-child cohort was set up with the aim to study the effect of prenatal exposure to environmental and occupational chemicals on reproduction and child development." . _:4d7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3222984/fullTextXML"; rdfs:comment "This study used a case-cohort design nested in a prospective birth cohort conducted in the Brittany region of France from 2002 through 2006." . _:4d802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21367690"; "Urinary biomarkers of prenatal atrazine exposure and adverse birth outcomes in the PELAGIE birth cohort."; "PMID:21367690", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3222984/fullTextXML"; rdfs:comment "The PELAGIE cohort included 3,421 pregnant women from Brittany from 2002 through February 2006." . _:4d812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A mother-child cohort set up by INSERM in Rennes of pregnant women enrolled before the 19th week of gestation by gynaecologists, obstetricians and ultrasonographers in three départements of Brittany, France, between 2002 and 2006, whose children are followed from birth through childhood into young adulthood, to study the effects of prenatal and childhood exposure to environmental and occupational chemicals such as pesticides on pregnancy, fertility and child development."; "PMID:21367690", "http://www.pelagie-inserm.fr/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3421; "pregnant women enrolled 2002-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3222984/fullTextXML"; rdfs:comment "The PELAGIE cohort included 3,421 pregnant women from Brittany from 2002 through February 2006." . _:4d832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PELAGIE"; . _:4d842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PÉLAGIE"; . a owl:NamedIndividual, ; , ; "PMID:41874644"; "A prospective population-based birth cohort of infants born between April 2005 and August 2006 in all the public maternity units of the Porto Metropolitan Area, Portugal, and their families, set up at the University of Porto and followed through childhood and adolescence to study how pregnancy and early-life characteristics relate to later growth, health and risk of chronic disease."; 8647; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/G21"; "G21", "Generation 21", "Generation XXI birth cohort", "Geração 21", "Geração XXI"; ; rdfs:label "Generation XXI"@en; rdfs:seeAlso . _:4d852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13013234/fullTextXML"; rdfs:comment "Data were drawn from Generation XXI, a prospective population-based birth cohort study assembled in Porto, Portugal" . _:4d862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41874644"; "Trajectories of appetitive traits and dietary patterns from childhood to adolescence: findings from the Generation XXI birth cohort."; "PMID:41874644", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13013234/fullTextXML"; rdfs:comment "We included 5040 participants from the Generation XXI cohort (Porto, Portugal)." . _:4d872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based birth cohort of infants born between April 2005 and August 2006 in all the public maternity units of the Porto Metropolitan Area, Portugal, and their families, set up at the University of Porto and followed through childhood and adolescence to study how pregnancy and early-life characteristics relate to later growth, health and risk of chronic disease."; "PMID:41874644", "https://www.geracao21.com/en/project"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8647; "liveborn infants enrolled 2005-2006"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13013234/fullTextXML"; rdfs:comment "Between April 2005 and August 2006, 8647 liveborn infants were enrolled in all the public maternity wards in the Porto Metropolitan Area." . _:4d892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "G21"; . a owl:NamedIndividual, ; , ; "PMID:39010980"; "A population-based cohort of men and women aged 35 years or more living in the Molise region of southern Italy, randomly sampled with their family members from the city registries of Molise towns and recruited between 2005 and 2010, examined at baseline with a biobank of their samples and followed by linkage to regional health and mortality registries and a recall examination, to study genetic and environmental risk factors for cardiovascular, cancer and neurodegenerative diseases."; 24325; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Moli-sani"; "MOLI-SANI", "MOLI-SANI Study", "Moli-sani", "Moli-sani Project", "Moli-sani cohort study", "Progetto Moli-sani"; ; rdfs:label "Moli-sani Study"@en; rdfs:seeAlso . _:4d8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11247150/fullTextXML"; rdfs:comment "We utilized data from the Moli-sani Study, a population-based cohort established between 2005 and 2010, comprising 24,325 men and women aged ≥35 years residing in the Southern Italian region of Molise." . _:4d8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39010980"; "The association between hypoalbuminemia and risk of death due to cancer and vascular disease in individuals aged 65 years and older: findings from the prospective Moli-sani cohort study."; "PMID:39010980", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11247150/fullTextXML"; rdfs:comment "Serum albumin levels were measured in the population-based, prospective cohort of the Moli-sani study, established between 2005 and 2010." . _:4d8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of men and women aged 35 years or more living in the Molise region of southern Italy, randomly sampled with their family members from the city registries of Molise towns and recruited between 2005 and 2010, examined at baseline with a biobank of their samples and followed by linkage to regional health and mortality registries and a recall examination, to study genetic and environmental risk factors for cardiovascular, cancer and neurodegenerative diseases."; "PMID:39010980", "https://www.moli-sani.org/?page_id=423"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 24325; "adults aged 35+ enrolled 2005-2010"; "https://www.moli-sani.org/?page_id=423"; rdfs:comment "From 2005, 24,325 participants were enrolled, with a participation rate of 70%." . _:4d8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MOLI-SANI"; . _:4d8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Moli-sani"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22138; , ; "PMID:39500766"; "A prospective birth cohort run by RECETOX at Masaryk University with University Hospital Brno, Czech Republic, which enrolled pregnant women from 2017 (after a 2015-2016 pilot) and follows them and their children from pregnancy through early childhood, collecting biological samples and questionnaires, to study exposome factors such as environment, lifestyle, nutrition, genetics and the gut microbiome behind chronic diseases and developmental disorders in children."; 3200; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CELSPAC-TNG"; "CELSPAC-TNG", "CELSPAC: TNG", "Central European Longitudinal Study of Parents and Children: The Next Generation", "TNG", "The Next Generation"; ; rdfs:label "Central European Longitudinal Studies of Parents and Children: The Next Generation"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22138 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22138; "exposome factors (environment, lifestyle, nutrition) in pregnancy and early childhood"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CELSPAC-TNG"; rdfs:comment "This prospective birth cohort is designed to follow up 7000 children from their prenatal period to adolescence with the aim of assessing EXPOSOME factors potentially affecting children health." . _:4d912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11303690/fullTextXML"; rdfs:comment "The mothers (age ≥18 years) were recruited in their 38th week of pregnancy at University Hospital Brno, Czech Republic, in 2015 and 2016." . _:4d922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39500766"; "Fecal tryptophan metabolite profiling in newborns in relation to microbiota and antibiotic treatment."; "PMID:39500766", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11538234/fullTextXML"; rdfs:comment "Infants’ meconium and stool samples were collected between day 1 and day 4 from birth from 134 neonates (20 delivered via caesarean section and 114 delivered vaginally) at the University Hospital Brno within the CELSPAC: TNG cohort study (Central European Longitudinal Study of Parents and Children: The Next Generation)." . _:4d932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort run by RECETOX at Masaryk University with University Hospital Brno, Czech Republic, which enrolled pregnant women from 2017 (after a 2015-2016 pilot) and follows them and their children from pregnancy through early childhood, collecting biological samples and questionnaires, to study exposome factors such as environment, lifestyle, nutrition, genetics and the gut microbiome behind chronic diseases and developmental disorders in children."; "PMID:39107353", "https://www.celspac.cz/tng"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3200; "mothers and children who joined 2017-2026 (more than; website, in Czech)"; "https://www.celspac.cz/tng"; rdfs:comment "Celkem do ní vstoupilo více než 3 200 maminek a dětí." . _:4d952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CELSPAC-TNG"; . _:4d962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CELSPAC: TNG"; . _:4d972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TNG"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22147; , ; "PMID:42044183"; "The Cypriot site of the CHILDREN_FIRST multi-country prospective exposome cohort: children in the first grade of randomly selected public primary schools in Cyprus, recruited from October 2023 by the Cyprus University of Technology with the biobank of the University of Cyprus and assessed every year until the end of primary school with questionnaires, urine and saliva samples and home and school environmental measurements, to study how the exposome shapes early risk of cardiometabolic, neurodevelopmental and respiratory disease."; 350; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHILDREN%20FIRST"; "CHILDREN FIRST", "CHILDREN HEALTH AND ENVIRONMENT OBSERVATORY", "CHILDREN_FIRST", "Κυπριακό Παρατηρητήριο Υγείας και Περιβάλλοντος Παιδιών"; ; rdfs:label "Cypriot Children's Health and Environment Observatory"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22147 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22147; "children's exposome (molecular biomarkers, sensors and questionnaires across the three exposome domains)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13119864/fullTextXML"; rdfs:comment "The CHILDREN_FIRST international cohort observatory study aims to investigate how the spatio-temporal evolution of the children’s exposome profiles in the Mediterranean region influences early-life programming of chronic disease risk during the critical window of susceptibility in primary school years (6–11 years of age)." . _:4d992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13119864/fullTextXML"; rdfs:comment "In Cyprus, participant recruitment took place between October 2023 and January 2024 and data collection for the baseline assessment was conducted from January 2024 to June 2024." . _:4d9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42044183"; "Designing a children's health exposomics study protocol: The CHILDREN_FIRST multi-country prospective cohort using multi-omics and personalized prevention approaches."; "PMID:42044183", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13119864/fullTextXML"; rdfs:comment "In Cyprus, participant recruitment took place between October 2023 and January 2024 and data collection for the baseline assessment was conducted from January 2024 to June 2024." . _:4d9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Cypriot site of the CHILDREN_FIRST multi-country prospective exposome cohort: children in the first grade of randomly selected public primary schools in Cyprus, recruited from October 2023 by the Cyprus University of Technology with the biobank of the University of Cyprus and assessed every year until the end of primary school with questionnaires, urine and saliva samples and home and school environmental measurements, to study how the exposome shapes early risk of cardiometabolic, neurodevelopmental and respiratory disease."; "PMID:42044183", "https://web.cut.ac.cy/childrenfirstcy/about"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4d9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 350; "participating children (more than), 22 primary schools (2024)"; "https://web.cut.ac.cy/childrenfirstcy/" . _:4d9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHILDREN FIRST"; . _:4d9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHILDREN_FIRST"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22155; , ; "PMID:36581944"; "A nationwide population-based study of adults living in the Grand Duchy of Luxembourg, run by the Luxembourg Institute of Health, whose first wave (2007-2009) examined a random sample of residents and whose second wave (2016-2018) re-examined them together with new participants from the civil registry, another national health examination survey and volunteers, with questionnaires, clinical measurements and blood, urine and hair samples, to describe the prevalence and evolution of cardiovascular risk factors."; 1558; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ORISCAV-LUX-II"; "ORISCAV-LUX", "ORISCAV-LUX 2", "ORISCAV-LUX-II", "ORISCAV-LUX2", "Observation des Risques et de la Santé Cardio-Vasculaire au Luxembourg", "Observation of Cardiovascular Risk Factors in Luxembourg", "Observation of cardiovascular risk factors in Luxembourg"; ; rdfs:label "Observation of Cardiovascular Risks and Health in Luxembourg"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22155 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4d9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22155; "cardiovascular disease"; "https://www.lih.lu/en/oriscav-lux/"; rdfs:comment "ORISCAV-LUX (Observation des Risques et de la Santé Cardio-Vasculaire au Luxembourg = Observation of Cardiovascular Risks and Health in Luxembourg) was the first nationwide epidemiological study aimed at establishing an objective picture of the prevalence of lifestyle-related risk factors for cardiovascular disease in the general population residing in the Grand Duchy of Luxembourg." . _:4da02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.lih.lu/en/oriscav-lux/"; rdfs:comment "ORISCAV-LUX (Observation des Risques et de la Santé Cardio-Vasculaire au Luxembourg = Observation of Cardiovascular Risks and Health in Luxembourg) was the first nationwide epidemiological study aimed at establishing an objective picture of the prevalence of lifestyle-related risk factors for cardiovascular disease in the general population residing in the Grand Duchy of Luxembourg." . _:4da12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36581944"; "Device-measured physical activity and sedentary time in a national sample of Luxembourg residents: the ORISCAV-LUX 2 study."; "PMID:36581944", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9798598/fullTextXML"; rdfs:comment "Data were from the ORISCAV-LUX 2 study, a national cross-sectional survey of cardiovascular risk factors in the Luxembourgish adult population" . _:4da22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based study of adults living in the Grand Duchy of Luxembourg, run by the Luxembourg Institute of Health, whose first wave (2007-2009) examined a random sample of residents and whose second wave (2016-2018) re-examined them together with new participants from the civil registry, another national health examination survey and volunteers, with questionnaires, clinical measurements and blood, urine and hair samples, to describe the prevalence and evolution of cardiovascular risk factors."; "PMID:30717671", "https://www.lih.lu/en/oriscav-lux/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4da32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1558; "participants of wave 2 (2016-2018)"; "https://www.lih.lu/en/oriscav-lux/"; rdfs:comment "The ORISCAV-LUX study was carried out by the Luxembourg Institute of Health (LIH) within the Department of Precision Health in 2007–2009 (Wave 1, 1432 participants) and in 2016-2018 (Wave 2, 1558 participants." . _:4da42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORISCAV-LUX"; . _:4da52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORISCAV-LUX 2"; . _:4da62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORISCAV-LUX-II"; . _:4da72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ORISCAV-LUX2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22165; , ; "PMID:42051041"; "An exposome birth cohort of pregnant women enrolled between October 2018 and April 2021 at three tertiary university hospitals in Barcelona, Spain (Hospital Sant Joan de Déu, Hospital de la Santa Creu i Sant Pau and Hospital Clínic de Barcelona) and their primary healthcare centres, and of their children, followed from the first trimester of pregnancy through delivery into childhood to study the socio-environmental and genetic determinants of foetal and child health, growth and development and of maternal mental and physical health during and after pregnancy."; 1080; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BiSC"; "BiSC", "BiSC Project"; ; rdfs:label "Barcelona Life Study Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22165 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4da82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22165; "socio-environmental exposome during pregnancy and childhood"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BiSC"; rdfs:comment "The Barcelona Life Study Cohort (BiSC) is an exposome cohort, aiming to comprehensively evaluate the socio-environmental and genetic determinants (i) of foetal and child health, growth, and development towards adult life and (ii) of maternal mental and physical health and wellbeing during pregnancy and afterwards, while shedding light on the underlying biological mechanisms." . _:4da92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://projectebisc.org/en/bisc-project/"; rdfs:comment "The enrolment of the BiSC participants (n=1080) was carried out between October 2018 and April 2021 at three tertiary university hospitals in Barcelona, Spain, including Hospital Sant Joan de Déu, Hospital de la Santa Creu i Sant Pau, and Hospital Clínic de Barcelona, and their corresponding primary healthcare centres." . _:4daa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42051041"; "Maternal Chrono-Nutrition and Placental DNA Methylation: The BiSC Study."; "PMID:42051041", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42051041+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Data came from 389 pregnant women in the Barcelona Life Study Cohort (BiSC)." . _:4dab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An exposome birth cohort of pregnant women enrolled between October 2018 and April 2021 at three tertiary university hospitals in Barcelona, Spain (Hospital Sant Joan de Déu, Hospital de la Santa Creu i Sant Pau and Hospital Clínic de Barcelona) and their primary healthcare centres, and of their children, followed from the first trimester of pregnancy through delivery into childhood to study the socio-environmental and genetic determinants of foetal and child health, growth and development and of maternal mental and physical health during and after pregnancy."; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BiSC", "https://projectebisc.org/en/bisc-project/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4dac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1080; "pregnant women enrolled 2018-2021"; "https://projectebisc.org/en/bisc-project/"; rdfs:comment "The enrolment of the BiSC participants (n=1080) was carried out between October 2018 and April 2021 at three tertiary university hospitals in Barcelona, Spain, including Hospital Sant Joan de Déu, Hospital de la Santa Creu i Sant Pau, and Hospital Clínic de Barcelona, and their corresponding primary healthcare centres." . _:4dad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BiSC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22172, _:genid-371333f489424440b12a13b9d98ced822608-genid22174; , ; ; "PMID:36601007"; "A multicentre longitudinal follow-up in Spain (Santiago de Compostela, Córdoba, Zaragoza and Granada) of children who had taken part in the GENOBOX study before puberty and were re-examined after reaching puberty, grouped by obesity and insulin resistance status, to study the progression of metabolic syndrome and cardiometabolic risk factors from prepuberty to puberty and to find biomarkers and epigenetic marks of metabolic complications during puberty."; 191; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PUBMEP"; "PUBMEP", "PUBMEP study"; ; rdfs:label "Puberty and metabolic risk in obese children. Epigenetic alterations and pathophysiological and diagnostic implications"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22172 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22174 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4dae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22172; "obesity"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PUBMEP"; rdfs:comment "Children were allocated into five experimental groups according to their obesity and insulin resistance (IR) status before and after the onset of puberty." . _:4daf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22174; "metabolic syndrome"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PUBMEP"; rdfs:comment "Children were allocated into five experimental groups according to their obesity and insulin resistance (IR) status before and after the onset of puberty." . _:4db02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9806164/fullTextXML"; rdfs:comment "Hence, the PUBMEP study aimed to evaluate the prevalence of MetS and the progression of cardiometabolic risk factors related to it from prepuberty to puberty in a cohort of Spanish children." . _:4db12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9806164/fullTextXML"; rdfs:comment "The PUBMEP is a longitudinal study based on the follow-up of a cohort of children who had previously participated in the GENOBOX study (22–29)." . _:4db22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36601007"; "Progression of metabolic syndrome and associated cardiometabolic risk factors from prepuberty to puberty in children: The PUBMEP study."; "PMID:36601007", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9806164/fullTextXML"; rdfs:comment "Hence, the PUBMEP study aimed to evaluate the prevalence of MetS and the progression of cardiometabolic risk factors related to it from prepuberty to puberty in a cohort of Spanish children." . _:4db32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre longitudinal follow-up in Spain (Santiago de Compostela, Córdoba, Zaragoza and Granada) of children who had taken part in the GENOBOX study before puberty and were re-examined after reaching puberty, grouped by obesity and insulin resistance status, to study the progression of metabolic syndrome and cardiometabolic risk factors from prepuberty to puberty and to find biomarkers and epigenetic marks of metabolic complications during puberty."; "PMID:36601007", "https://uceens.ugr.es/en/proyecto/puberty-and-metabolic-risk-in-obese-children-epigenetic-alterations-and-pathophysiological-and-diagnostic-implications/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4db42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 191; "children followed from prepuberty to puberty"; "PMID:36601007"; rdfs:comment "Longitudinal study based on the follow-up until puberty of a cohort of 191 prepubertal Spanish boys and girls without congenital, chronic, or inflammatory diseases: undernutrition: or intake of any drug that could alter blood glucose, blood pressure, or lipid metabolism." . _:4db52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PUBMEP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22182, _:genid-371333f489424440b12a13b9d98ced822608-genid22184, _:genid-371333f489424440b12a13b9d98ced822608-genid22186; , ; "PMID:40777557"; "A prospective cohort set up in 2008 of children living in the agricultural (floricultural) community of Pedro Moncayo County, Pichincha, Ecuador, recruited to include a balanced mix of children who did and did not live with a floricultural or agricultural worker and followed with repeated examinations into adolescence and adulthood, run by the University of California San Diego with Fundación Cimas del Ecuador to study the health effects of pesticide and other agrochemical exposures from childhood to adulthood."; 746; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ESPINA"; "ESPINA", "ESPINA Study", "ESPINA study", "Secondary Exposure to Pesticides Among Children, Adolescents, and Adults (ESPINA) study", "Study of Secondary Exposures to Pesticides Across Childhood, Adolescence and Adulthood", "Study of secondary exposure to pesticides among children, adolescents, and adults"; ; rdfs:label "Study of Secondary Exposure to Pesticides among Children, Adolescents, and Adults"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22182 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22184 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22186 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4db62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22182; "secondary (take-home and residential) pesticide exposure in a floricultural community"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329275/fullTextXML"; rdfs:comment "ESPINA is a prospective cohort established in 2008 that aims to investigate the impacts of pesticide exposure on development from childhood to adulthood in individuals living within the agricultural community of Pedro Moncayo, Pichincha, Ecuador." . _:4db72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22184; "agrochemicals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329275/fullTextXML"; rdfs:comment "ESPINA is a prospective cohort established in 2008 that aims to investigate the impacts of pesticide exposure on development from childhood to adulthood in individuals living within the agricultural community of Pedro Moncayo, Pichincha, Ecuador." . _:4db82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22186; "PFAS, PCBs, PBDEs, DEET"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329275/fullTextXML"; rdfs:comment "ESPINA is a prospective cohort established in 2008 that aims to investigate the impacts of pesticide exposure on development from childhood to adulthood in individuals living within the agricultural community of Pedro Moncayo, Pichincha, Ecuador." . _:4db92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329275/fullTextXML"; rdfs:comment "ESPINA is a prospective cohort established in 2008 that aims to investigate the impacts of pesticide exposure on development from childhood to adulthood in individuals living within the agricultural community of Pedro Moncayo, Pichincha, Ecuador." . _:4dba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40777557"; "Urinary pesticide biomarkers from adolescence to young adulthood in an agricultural setting in Ecuador: Study of secondary exposure to pesticides among children, adolescents, and adults (ESPINA) 2016 and 2022 examination data."; "PMID:40777557", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12329275/fullTextXML"; rdfs:comment "This article presents urinary pesticide metabolite concentrations for 665 participants in the “Study of Secondary Exposure to Pesticides among Children, Adolescents, and Adults” (ESPINA)" . _:4dbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort set up in 2008 of children living in the agricultural (floricultural) community of Pedro Moncayo County, Pichincha, Ecuador, recruited to include a balanced mix of children who did and did not live with a floricultural or agricultural worker and followed with repeated examinations into adolescence and adulthood, run by the University of California San Diego with Fundación Cimas del Ecuador to study the health effects of pesticide and other agrochemical exposures from childhood to adulthood."; "PMID:40777557", "https://espina.ucsd.edu/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4dbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 746; "analysed subset: participants with AChE measured at eight exams over 16 years (2024)"; "PMID:41904267"; rdfs:comment "We measured AChE activity in fresh fingerstick blood from 746 participants ages 4 to 26 years who resided in an agricultural county in Ecuador, totaling 3119 observations." . _:4dbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ESPINA"; . a owl:NamedIndividual, ; , ; "PMID:35641005"; "An administrative cohort of the residents of Rome, Italy, enrolled from population census returns (the 2001 census and the census of 9 October 2011) linked to the municipal population registry, and followed by record linkage with administrative health databases, with baseline residential addresses linked to environmental exposures such as air pollution, temperature and greenness. It is run by the Department of Epidemiology of the Lazio Regional Health Service (ASL Roma 1) to study social, occupational and environmental determinants of health."; 2000000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ROLS"; "ROLS", "RoLS", "Rome longitudinal study"; ; rdfs:label "Rome Longitudinal Study"@en . _:4dbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37944432+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We enrolled 1,739,277 individuals 30 + years from the 2011 census in Rome, Italy, and followed them up until 2019." . _:4dbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35641005"; "Differences in mortality between temporary and permanent workers: results from the Rome Longitudinal Study."; "PMID:35641005", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9157355/fullTextXML"; rdfs:comment "We used the Rome Longitudinal Study, the administrative cohort of residents in Rome who filled in the 2001 population census." . _:4dc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An administrative cohort of the residents of Rome, Italy, enrolled from population census returns (the 2001 census and the census of 9 October 2011) linked to the municipal population registry, and followed by record linkage with administrative health databases, with baseline residential addresses linked to environmental exposures such as air pollution, temperature and greenness. It is run by the Department of Epidemiology of the Lazio Regional Health Service (ASL Roma 1) to study social, occupational and environmental determinants of health."; "PMID:35641005", "PMID:37944432", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ROLS"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4dc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2000000; "residents of all ages enrolled at the 2011 census (more than)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ROLS"; rdfs:comment "Rome Longitudinal Study: administrative cohort of >2 million individuals all ages, enrolled at Census date (Oct. 9 2011) and followed up until 2019 (to be updated)." . _:4dc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROLS"; . _:4dc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RoLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22199; , ; "PMID:30199412"; "An occupational cohort of the employees of employers in Belgium that chose IDEWE as their External Service for Prevention and Protection at Work, followed from 1993 through the records of their legally required occupational health surveillance. IDEWE pools the records in a data warehouse for research on work-related diseases and sector-specific health problems."; 773900; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Precube"; "PRECUBE", "Precube", "Prevention Cube: data warehouse for detection and evaluation of trends of occupational diseases", "Prevention Cube: data warehouse for detection and evaluation of trends of occupational diseases (Precube)"; ; rdfs:label "Prevention Cube"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22199 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4dc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22199; "occupational exposures across employment sectors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A26503980+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To build a 'data warehouse' to make OHS data available for research and to investigate sector-specific health problems." . _:4dc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30199412+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated work and health's associations in a specific sector: the agricultural sector and for a specific and frequent health complaint: sore throat; using PRECUBE dataset of the Belgian Occupational Health and Safety, containing 381.615 occupational health observations." . _:4dc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:30199412"; "Observational Surveillance Approach to Detect Novel Work-Related Diseases and Hazards: An Application to a Belgian Occupational Health and Safety Database."; "PMID:30199412", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30199412+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated work and health's associations in a specific sector: the agricultural sector and for a specific and frequent health complaint: sore throat; using PRECUBE dataset of the Belgian Occupational Health and Safety, containing 381.615 occupational health observations." . _:4dc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An occupational cohort of the employees of employers in Belgium that chose IDEWE as their External Service for Prevention and Protection at Work, followed from 1993 through the records of their legally required occupational health surveillance. IDEWE pools the records in a data warehouse for research on work-related diseases and sector-specific health problems."; "PMID:26503980", "PMID:42615545", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Precube"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4dc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 773900; "employees under IDEWE surveillance, 1993-2025 (catalogue field)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Precube"; rdfs:comment "Number of participants 773900" . _:4dc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PRECUBE"; . _:4dca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Precube"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22207, _:genid-371333f489424440b12a13b9d98ced822608-genid22209; , ; ; "PMID:23113606"; "The Czech Republic cohort of the HAPIEE study: a random sample of men and women aged 45-69 years, stratified by sex and age and selected from population registers in six Czech towns (Havířov/Karviná, Hradec Králové, Jihlava, Kroměříž, Liberec and Ústí nad Labem), examined at baseline in 2002-2005 and followed through re-examinations (most recently in 2023-2024) and linkage to national health registers, with geocoded addresses linked to exposome and census data. The aim is to study psychosocial, behavioural and environmental risk factors for cardiovascular and other chronic diseases and for ageing outcomes."; 8856; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HAPIEE-CZ"; "Czech HAPIEE cohort", "Czech HAPIEE study", "HAPIEE-CZ", "Health, Alcohol and Psychosocial factors In Eastern Europe"; ; rdfs:label "Czech Health, Alcohol and Psychosocial factors In Eastern Europe study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22207 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22209 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4dcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22207; "alcohol"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17049075+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main hypotheses of the HAPIEE study relate to the role of alcohol, nutrition and psychosocial factors." . _:4dcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22209; "nutrition"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A17049075+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The main hypotheses of the HAPIEE study relate to the role of alcohol, nutrition and psychosocial factors." . _:4dcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1626086/fullTextXML"; rdfs:comment "The HAPIEE (Health, Alcohol and Psychosocial factors In Eastern Europe) study consists of three cohorts in Novosibirsk (Russia), Krakow (Poland) and six centres in the Czech Republic (Havirov/Karvina, Hradec Kralove, Jihlava, Kromeriz, Liberec and Usti nad Labem)." . _:4dce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1626086/fullTextXML"; rdfs:comment "The HAPIEE (Health, Alcohol and Psychosocial factors In Eastern Europe) study consists of three cohorts in Novosibirsk (Russia), Krakow (Poland) and six centres in the Czech Republic (Havirov/Karvina, Hradec Kralove, Jihlava, Kromeriz, Liberec and Usti nad Labem)." . _:4dcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23113606"; "Lack of an association between left-handedness and APOE polymorphism in a large sample of adults: results of the Czech HAPIEE study."; "PMID:23113606", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23113606+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Lack of an association between left-handedness and APOE polymorphism in a large sample of adults: results of the Czech HAPIEE study." . _:4dd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The Czech Republic cohort of the HAPIEE study: a random sample of men and women aged 45-69 years, stratified by sex and age and selected from population registers in six Czech towns (Havířov/Karviná, Hradec Králové, Jihlava, Kroměříž, Liberec and Ústí nad Labem), examined at baseline in 2002-2005 and followed through re-examinations (most recently in 2023-2024) and linkage to national health registers, with geocoded addresses linked to exposome and census data. The aim is to study psychosocial, behavioural and environmental risk factors for cardiovascular and other chronic diseases and for ageing outcomes."; "PMID:17049075", "https://europepmc.org/article/PPR/PPR1175525", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HAPIEE-CZ"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4dd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8856; "men and women aged 45-69 at baseline 2002-2005"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/HAPIEE-CZ"; rdfs:comment "Four representative urban cohorts of middle-aged men and women were established in the Czech Republic (n = 8,856), Poland (n = 10,727), Lithuania (n = 10,940), and Russia (n = 9,363) in the early 2000s." . _:4dd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HAPIEE-CZ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22217, _:genid-371333f489424440b12a13b9d98ced822608-genid22219, _:genid-371333f489424440b12a13b9d98ced822608-genid22221; , , ; "PMID:41775864"; "The participants of a randomised, single-blind controlled trial in rural Malawi (Mangochi, University of Malawi College of Medicine with Tampere University), part of the International Lipid-Based Nutrient Supplements (iLiNS) Project: pregnant women enrolled from 2011, and later their infants. The women received small-quantity lipid-based nutrient supplements, multiple micronutrients or iron-folic acid during pregnancy and lactation, and the infants were followed to test effects on birth size, child growth and development, with a later follow-up of the children at 9 years."; 1391; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/iLiNS%20DOSE%20iLiNS%20DYAD"; "International Lipid‑Based Nutrient Supplements Project", "iLINS-DYAD-M", "iLiNS DOSE iLiNS DYAD", "iLiNS-DYAD-M", "iLiNS-DYAD-Malawi"; ; rdfs:label "International Lipid-Based Nutrient Supplements Project-DYAD-Malawi"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22217 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22219 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22221 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4dd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22217; "small-quantity lipid-based nutrient supplements"; "https://clinicaltrials.gov/api/v2/studies/NCT01239693"; rdfs:comment "A Research Plan for a Randomised, Single-blind, Parallel Group Controlled Trial in Rural Malawi, Testing the Health Effects of Supplementing Maternal Diet During Pregnancy and Lactation and Infant Diet From 6 to 18 Months of Age With High-energy, Micronutrient Fortified Lipid-based Nutrient Supplements (LNS)" . _:4dd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22219; "multiple micronutrients"; "https://clinicaltrials.gov/api/v2/studies/NCT01239693"; rdfs:comment "A Research Plan for a Randomised, Single-blind, Parallel Group Controlled Trial in Rural Malawi, Testing the Health Effects of Supplementing Maternal Diet During Pregnancy and Lactation and Infant Diet From 6 to 18 Months of Age With High-energy, Micronutrient Fortified Lipid-based Nutrient Supplements (LNS)" . _:4dd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22221; "iron-folic acid"; "https://clinicaltrials.gov/api/v2/studies/NCT01239693"; rdfs:comment "A Research Plan for a Randomised, Single-blind, Parallel Group Controlled Trial in Rural Malawi, Testing the Health Effects of Supplementing Maternal Diet During Pregnancy and Lactation and Infant Diet From 6 to 18 Months of Age With High-energy, Micronutrient Fortified Lipid-based Nutrient Supplements (LNS)" . _:4dd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://clinicaltrials.gov/api/v2/studies/NCT01239693"; rdfs:comment "A Research Plan for a Randomised, Single-blind, Parallel Group Controlled Trial in Rural Malawi, Testing the Health Effects of Supplementing Maternal Diet During Pregnancy and Lactation and Infant Diet From 6 to 18 Months of Age With High-energy, Micronutrient Fortified Lipid-based Nutrient Supplements (LNS)" . _:4dd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41775864"; "Early-life immunological and microbial differences between East African and North European children."; "PMID:41775864", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41775864+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "children from rural Africa (participants from the iLINS-DYAD-M study conducted in Malawi)" . _:4dd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of a randomised, single-blind controlled trial in rural Malawi (Mangochi, University of Malawi College of Medicine with Tampere University), part of the International Lipid-Based Nutrient Supplements (iLiNS) Project: pregnant women enrolled from 2011, and later their infants. The women received small-quantity lipid-based nutrient supplements, multiple micronutrients or iron-folic acid during pregnancy and lactation, and the infants were followed to test effects on birth size, child growth and development, with a later follow-up of the children at 9 years."; "PMID:25646337", "https://clinicaltrials.gov/study/NCT01239693", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/iLiNS%20DOSE%20iLiNS%20DYAD"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4dd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1391; "pregnant women enrolled and randomised from 2011"; "PMID:25646337"; rdfs:comment "We enrolled 1391 women with uncomplicated pregnancies" . _:4dda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iLINS-DYAD-M"; . _:4ddb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iLiNS DOSE iLiNS DYAD"; . _:4ddc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "iLiNS-DYAD-M"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22230, _:genid-371333f489424440b12a13b9d98ced822608-genid22232; , ; ; "PMID:27825389"; "A prospective longitudinal cohort of pregnant women enrolled since 2009 at prenatal clinics in the Concord and Lebanon regions of New Hampshire, USA, by the Geisel School of Medicine at Dartmouth, and of their children, followed from early pregnancy into childhood to study how environmental contaminants, such as arsenic from private well water, affect the health of pregnant women and their children."; 1500; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/NHBCS"; "NH Birth Cohort Study", "NHBCS", "New Hampshire birth cohort study"; ; rdfs:label "New Hampshire Birth Cohort Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22230 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22232 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ddd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22230; "environmental contaminants"; "https://www.protectkidshealth.com/about"; rdfs:comment "The New Hampshire Birth Cohort Study is a research project that is investigating how various factors such as contaminants in the environment affect the health of pregnant women and their children." . _:4dde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22232; "arsenic from private well water"; "https://www.protectkidshealth.com/about"; rdfs:comment "The New Hampshire Birth Cohort Study is a research project that is investigating how various factors such as contaminants in the environment affect the health of pregnant women and their children." . _:4ddf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.protectkidshealth.com/about"; rdfs:comment "Beginning in 2009, with the help of medical providers in New Hampshire, the study staff at the Geisel School of Medicine at Dartmouth, began enrolling pregnant women at clinics in the Concord and Lebanon regions of New Hampshire." . _:4de02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27825389"; "Maternal arsenic exposure and gestational diabetes and glucose intolerance in the New Hampshire birth cohort study."; "PMID:27825389", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A27825389+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We investigated the association between As exposure and risk of glucose intolerance and GDM among 1151 women enrolled in the New Hampshire Birth Cohort Study." . _:4de12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective longitudinal cohort of pregnant women enrolled since 2009 at prenatal clinics in the Concord and Lebanon regions of New Hampshire, USA, by the Geisel School of Medicine at Dartmouth, and of their children, followed from early pregnancy into childhood to study how environmental contaminants, such as arsenic from private well water, affect the health of pregnant women and their children."; "PMID:27825389", "https://www.protectkidshealth.com/about"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4de22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1500; "women enrolled (more than), with over 1,500 children"; "https://www.protectkidshealth.com/about"; rdfs:comment "Today our study has over 1,500 women and 1,500 children from New Hampshire and Vermont participating in this important study." . _:4de32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NHBCS"; . a owl:NamedIndividual, ; , , ; "PMID:41606232"; "A community-based open cohort of residents aged 65 and older of the Dapu (Dapuqiao) neighbourhood of Huangpu District in central Shanghai, China, recruited through the Shanghai Municipal Annual Physical Examination Program for older residents and examined in three waves in 2019, 2022 and 2024, mostly as repeated cross-sectional samples with a small longitudinal subset, to study health, lifestyle and cognition in an ageing urban population."; 2287; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SDACS"; "SDACS"; ; rdfs:label "Shanghai Dapuqiao Aging and Cognition Study"@en . _:4de42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12910095/fullTextXML"; rdfs:comment "The population-based cross-sectional community study, which was carried out in conjunction with the elderly medical examination program, recruited 2287 adults (including males and females, aged 60 years and older) from Dapuqiao Street, Huangpu District, Shanghai, China, from March 2019 to November 2019." . _:4de52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41606232"; "The association of Alzheimer's disease-related SNPs with mild cognitive impairment susceptibility in the Chinese population."; "PMID:41606232", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12910095/fullTextXML"; rdfs:comment "The population-based cross-sectional community study, which was carried out in conjunction with the elderly medical examination program, recruited 2287 adults (including males and females, aged 60 years and older) from Dapuqiao Street, Huangpu District, Shanghai, China, from March 2019 to November 2019." . _:4de62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A community-based open cohort of residents aged 65 and older of the Dapu (Dapuqiao) neighbourhood of Huangpu District in central Shanghai, China, recruited through the Shanghai Municipal Annual Physical Examination Program for older residents and examined in three waves in 2019, 2022 and 2024, mostly as repeated cross-sectional samples with a small longitudinal subset, to study health, lifestyle and cognition in an ageing urban population."; "PMID:41606232", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SDACS"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4de72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2287; "eligible participants of wave 1 (2019)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SDACS"; rdfs:comment "Data were collected across three examination waves in 2019, 2022, and 2024, with 2287, 1518, and 3554 eligible participants included after exclusions, respectively." . _:4de82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SDACS"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "PMID:20731877"; "A multidisciplinary, cross-nationally harmonised longitudinal panel survey of people aged 50 and older, begun in 2004 in eleven European countries and Israel and extended to all EU member states and Switzerland, run as a European Research Infrastructure Consortium (SHARE-ERIC, coordinated from Munich and later Berlin), that collects data on health, biomarkers, cognition, employment, socio-economic status and social and family networks to study the effects of health, social, economic and environmental policies over the life course."; "The acronym SHARE also denotes WHI SNP Health Association Resource (COHO:0000604), Sinai-Helmsley Alliance for Research Excellence (COHO:0000725) and SNP Health Association Asthma Resource Project (COHO:0002374); this term is Survey of Health, Ageing and Retirement in Europe."@en; 140000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SHARE"; "SHARE"; ; rdfs:label "Survey of Health, Ageing and Retirement in Europe"@en . _:4de92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-6"; rdfs:comment "Additionally, Croatia participated in SHARE Wave 6 for the first time." . _:4dea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-7"; rdfs:comment "In 2017, the main data collection of Wave 7 took place in 28 countries - full coverage of the EU was achieved by including 8 new countries in SHARE: Finland, Lithuania, Latvia, Slovakia, Romania, Bulgaria, Malta and Cyprus." . _:4deb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-1"; rdfs:comment "They constitute a balanced representation of the various regions in Europe, ranging from Scandinavia (Denmark and Sweden) through Central Europe (Austria, France, Germany, Switzerland, Belgium, and the Netherlands) to the Mediterranean (Spain, Italy and Greece)." . _:4dec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-1"; rdfs:comment "Israel joined the SHARE framework in late 2004, being the first country in the Middle East to initiate a systematic study of its aging population." . _:4ded2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-5"; rdfs:comment "The following countries collected data and are part of the scientific release: Austria, Belgium, Switzerland, Czech Republic, Germany, Denmark, Estonia, Spain, France, Israel, Italy, Luxembourg, Netherlands, Sweden, and Slovenia." . _:4dee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-2"; rdfs:comment "Two 'new' EU member states - the Czech Republic and Poland - as well as Ireland joined SHARE in 2006 and participated in the second wave of data collection in 2006-07." . _:4def2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://share-eric.eu/data/data-documentation/waves-overview/wave-4"; rdfs:comment "In 2010, Estonia, Hungary, Portugal and Slovenia joined SHARE Wave 4, which is the third regular panel wave of the survey following the SHARELIFE life history questionnaire." . _:4df02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20731877"; "A frailty instrument for primary care: findings from the Survey of Health, Ageing and Retirement in Europe (SHARE)."; "PMID:20731877", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2939541/fullTextXML"; rdfs:comment "A Frailty Instrument for primary care: findings from the Survey of Health, Ageing and Retirement in Europe (SHARE)" . _:4df12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multidisciplinary, cross-nationally harmonised longitudinal panel survey of people aged 50 and older, begun in 2004 in eleven European countries and Israel and extended to all EU member states and Switzerland, run as a European Research Infrastructure Consortium (SHARE-ERIC, coordinated from Munich and later Berlin), that collects data on health, biomarkers, cognition, employment, socio-economic status and social and family networks to study the effects of health, social, economic and environmental policies over the life course."; "PMID:23778574", "https://share-eric.eu/data/data-documentation/waves-overview/wave-1", "https://share-eric.eu/data/data-documentation/waves-overview/wave-7", "https://share-eric.eu/infrastructure"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4df22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 140000; "people aged 50+ interviewed since 2004 (all waves, 28 countries and Israel)"; "https://share-eric.eu/infrastructure"; rdfs:comment "From 2004 until today, 530,000 in-depth interviews with 140,000 people aged 50 or older from 28 European countries and Israel have been conducted." . _:4df32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SHARE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22255; , , ; "PMID:40838581"; "A nationally representative in-depth study of late-life cognition and dementia in India, led from the University of Southern California with Indian partners, that recruited a sub-sample of Longitudinal Aging Study in India (LASI) respondents aged 60 and older, oversampling those at high risk of cognitive impairment, from 18 states and union territories in 2017–2019 and 22 in 2022–2024, and assessed them with the Harmonized Cognitive Assessment Protocol, informant interviews, geriatric assessments, blood biomarkers, neuroimaging, genomics and environmental exposure measures."; 4635; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/LASI-DAD"; "Diagnostic Assessment of Dementia for the Longitudinal Aging Study in India", "Harmonized Diagnostic Assessment for the Longitudinal Aging Study in India", "Harmonized Diagnostic Assessment of Dementia for the Longitudinal Aging study in India", "LASI-DAD", "Longitudinal Aging Study in India-Diagnostic Assessment of Dementia"; ; rdfs:label "Harmonized Diagnostic Assessment of Dementia for the Longitudinal Aging Study in India"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22255 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4df42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22255; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12497661/fullTextXML"; rdfs:comment "LASI-DAD is a representative subsample of LASI that has a focus on cognitive aging and dementia among persons aged 60 and over in India, with an oversampling of those at a higher risk of cognitive impairment." . _:4df52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39482079+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "A total of 4635 participants were recruited between 2022 and 2024 from 22 states and union territories of India, accounting for 97.9% of the population in India." . _:4df62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40838581"; "Association of blood-based neurodegenerative biomarkers with cognitive functioning and dementia in India (LASI-DAD) and the United States (HRS)."; "PMID:40838581", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12497661/fullTextXML"; rdfs:comment "LASI-DAD is a representative subsample of LASI that has a focus on cognitive aging and dementia among persons aged 60 and over in India, with an oversampling of those at a higher risk of cognitive impairment." . _:4df72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationally representative in-depth study of late-life cognition and dementia in India, led from the University of Southern California with Indian partners, that recruited a sub-sample of Longitudinal Aging Study in India (LASI) respondents aged 60 and older, oversampling those at high risk of cognitive impairment, from 18 states and union territories in 2017–2019 and 22 in 2022–2024, and assessed them with the Harmonized Cognitive Assessment Protocol, informant interviews, geriatric assessments, blood biomarkers, neuroimaging, genomics and environmental exposure measures."; "PMID:39482079", "https://lasi-dad.org/about/overview", "https://lasi-dad.org/study-design"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4df82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4635; "participants of Wave 2 (follow-up plus refresher sample), 2022-2024"; "PMID:39482079"; rdfs:comment "A total of 4635 participants were recruited between 2022 and 2024 from 22 states and union territories of India, accounting for 97.9% of the population in India." . _:4df92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LASI-DAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22262, _:genid-371333f489424440b12a13b9d98ced822608-genid22264, _:genid-371333f489424440b12a13b9d98ced822608-genid22266; , , ; "PMID:31812162"; "An ongoing prospective birth cohort study run by the Center for Environmental and Health Sciences of Hokkaido University, Japan, made up of the Sapporo cohort, recruited in pregnancy at one Sapporo hospital in 2002–2005, and the Hokkaido cohort, recruited in the first trimester at clinics and hospitals across Hokkaido Prefecture in 2003–2012, that follows the children to study the effects of prenatal and postnatal exposure to environmental chemicals on birth outcomes, birth defects, growth, allergies, infections and neurodevelopment, and genetic susceptibility to them."; 20926; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Hokkaido%20Study"; "Hokkaido Birth Cohort Study on Environment and Children's Health", "Hokkaido Study", "Hokkaido Study on Environment and Children’s Health", "Hokkaido Study on Environment and Children’s Health: Malformation, Development, and Allergy", "Hokkaido birth cohort study on environment and children’s health"; ; rdfs:label "Hokkaido Study on Environment and Children's Health"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22264 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22266 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4dfa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22262; "low-level environmental chemical exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34022817+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our primary objectives are to (1) examine the effects that low-level environmental chemical exposures have on birth outcomes, including birth defects and growth retardation;" . _:4dfb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22264; "tobacco smoke"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34022817+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our primary objectives are to (1) examine the effects that low-level environmental chemical exposures have on birth outcomes, including birth defects and growth retardation;" . _:4dfc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22266; "PFAS"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34022817+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our primary objectives are to (1) examine the effects that low-level environmental chemical exposures have on birth outcomes, including birth defects and growth retardation;" . _:4dfd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8141139/fullTextXML"; rdfs:comment "(2) The Hokkaido cohort recruited pregnant women during their first trimester from the entirety of Hokkaido Prefecture, Japan, during 2003-2012." . _:4dfe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31812162"; "Prenatal tobacco exposure and ADHD symptoms at pre-school age: the Hokkaido Study on Environment and Children's Health."; "PMID:31812162", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6898952/fullTextXML"; rdfs:comment "This study was a follow-up study of a prospective birth cohort study, the Hokkaido Study on Environment and Children’s Health." . _:4dff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing prospective birth cohort study run by the Center for Environmental and Health Sciences of Hokkaido University, Japan, made up of the Sapporo cohort, recruited in pregnancy at one Sapporo hospital in 2002–2005, and the Hokkaido cohort, recruited in the first trimester at clinics and hospitals across Hokkaido Prefecture in 2003–2012, that follows the children to study the effects of prenatal and postnatal exposure to environmental chemicals on birth outcomes, birth defects, growth, allergies, infections and neurodevelopment, and genetic susceptibility to them."; "PMID:34022817", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Hokkaido%20Study"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20926; "pregnant women of the Hokkaido cohort only (the larger of the two sub-cohorts), 2003-2012"; "PMID:34022817"; rdfs:comment "This cohort consists of 20,926 pregnant women." . _:4e012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Hokkaido Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22273, _:genid-371333f489424440b12a13b9d98ced822608-genid22275, _:genid-371333f489424440b12a13b9d98ced822608-genid22277; , ; "PMID:24862831"; "The children of the German birth cohorts GINIplus (born 1995–1998) and LISAplus (born 1997–1999) recruited in the rural study area of Wesel, near the industrial Ruhr area in western Germany, whose data are pooled because the two cohorts have nearly identical designs and analysed as one study population, as in the ESCAPE and EXPANSE air pollution and exposome consortia, separately from the urban Munich participants (GINI/LISA South)."; 3390; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI/LISA%20North"; "GINI/LISA North", "GINIplus (German Infant Nutritional Intervention plus environmental and genetic influences on allergy development)/LISA (Influence of Lifestyle factors on the development of the Immune System and Allergies) North"; ; rdfs:label "GINIplus/LISA North"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22273 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22275 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22277 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22273; "infant nutritional intervention"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI/LISA%20North"; rdfs:comment "The GINIplus (German Infant Nutritional Intervention plus environmental and genetic influences on allergy development) and LISA (Influence of Lifestyle factors on the development of the Immune System and Allergies) studies are prospective population-based birth cohorts from East and West Germany." . _:4e032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22275; "environmental and lifestyle influences on allergy development"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI/LISA%20North"; rdfs:comment "The GINIplus (German Infant Nutritional Intervention plus environmental and genetic influences on allergy development) and LISA (Influence of Lifestyle factors on the development of the Immune System and Allergies) studies are prospective population-based birth cohorts from East and West Germany." . _:4e042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22277; "allergy"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI/LISA%20North"; rdfs:comment "The GINIplus (German Infant Nutritional Intervention plus environmental and genetic influences on allergy development) and LISA (Influence of Lifestyle factors on the development of the Immune System and Allergies) studies are prospective population-based birth cohorts from East and West Germany." . _:4e052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4112441/fullTextXML"; rdfs:comment "GINI/LISA North covers the rural area near the industrial Ruhr area in Germany" . _:4e062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24862831"; "Greenness and allergies: evidence of differential associations in two areas in Germany."; "PMID:24862831", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4112441/fullTextXML"; rdfs:comment "Longitudinal associations were assessed per study area (GINI/LISA South and GINI/LISA North) using generalised estimation equations adjusted for host and environmental covariates." . _:4e072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The children of the German birth cohorts GINIplus (born 1995–1998) and LISAplus (born 1997–1999) recruited in the rural study area of Wesel, near the industrial Ruhr area in western Germany, whose data are pooled because the two cohorts have nearly identical designs and analysed as one study population, as in the ESCAPE and EXPANSE air pollution and exposome consortia, separately from the urban Munich participants (GINI/LISA South)."; "PMID:24149084", "PMID:24862831", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI/LISA%20North"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3390; "children of GINIplus and LISA in the Wesel (North) area, as listed by the catalogue"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GINI%2FLISA%20North"; rdfs:comment "Number of participants 3390" . _:4e092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GINI/LISA North"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22284; , ; "PMID:35960396"; "A multi-school, population-based, parallel-group randomised controlled trial of healthy adolescents aged 11 to 16 attending schools in Barcelona, Spain, run by researchers of ISGlobal in 2016–2017, that tested whether eating 30 g of walnuts a day for six months improves neuropsychological and socio-emotional development, with cognitive, behavioural, lifestyle and environmental assessments and blood and urine samples from part of the participants."; 771; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/WALNUTs"; "WALNUTs", "WALNUTs study", "WSS", "Walnuts, Long-Chain Polyunsaturated Fatty Acids, and Adolescent Brain Development"; ; rdfs:label "Walnuts Smart Snack Dietary Intervention Trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22284 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22284; "walnut intake (omega-3 fatty acids)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10576734/fullTextXML"; rdfs:comment "a randomized controlled trial aimed to evaluate whether dietary supplementation with four walnuts per day (30 kernel grams) for 6 months improved brain neuropsychological and socio-emotional development compared to a control group (abstention from walnuts) in healthy teenagers (11–16 years old)" . _:4e0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8217431/fullTextXML"; rdfs:comment "Thus, we designed the WALNUTs study (WSS), a population-based randomized controlled trial conducted in adolescents in Barcelona, Spain." . _:4e0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35960396"; "Red blood cell omega-3 fatty acids and attention scores in healthy adolescents."; "PMID:35960396", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10576734/fullTextXML"; rdfs:comment "This is a cross-sectional study using baseline data from the Walnuts Smart Snack Dietary Intervention Trial, a randomized controlled trial aimed to evaluate whether dietary supplementation with four walnuts per day (30 kernel grams) for 6 months improved brain neuropsychological and socio-emotional development compared to a control group (abstention from walnuts) in healthy teenagers (11–16 years old)" . _:4e0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multi-school, population-based, parallel-group randomised controlled trial of healthy adolescents aged 11 to 16 attending schools in Barcelona, Spain, run by researchers of ISGlobal in 2016–2017, that tested whether eating 30 g of walnuts a day for six months improves neuropsychological and socio-emotional development, with cognitive, behavioural, lifestyle and environmental assessments and blood and urine samples from part of the participants."; "PMID:34169045", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/WALNUTs"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 771; "adolescents randomised (2015-2016)"; "PMID:34169045"; rdfs:comment "After data collection, 771 participants were equally randomized in two groups (386/385), but because of some exclusions post-randomization, 748 were finally included." . _:4e0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WALNUTs"; . _:4e102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "WSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22292; ; , ; "PMID:33171599"; "A multicentre hospital-based case–control study of children and adolescents in Spain, recruited at the university hospitals of Santiago de Compostela (Hospital Clínico Universitario de Santiago), Zaragoza (Hospital Clínico Universitario Lozano Blesa) and Córdoba (Hospital Universitario Reina Sofía): cases attending hospital with suspected overweight or obesity, and controls attending for minor disorders or common infections that were not confirmed, studied to understand the pathophysiology and cardiometabolic, inflammatory and oxidative-stress risk factors of childhood obesity."; 1775; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GENOBOX"; "GENOBOX", "GENOBOX clinic cohort", "GENOBOX cohort", "Genobox", "Genobox cohort"; ; rdfs:label "GENOBOX study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22292 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22292; "childhood obesity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9180328/fullTextXML"; rdfs:comment "The case group was recruited from children who came to the hospitals to confirm the diagnosis of overweight or obesity or for identification of minor gastrointestinal disorders that were discarded after clinical and laboratory tests." . _:4e122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7695147/fullTextXML"; rdfs:comment "The GENOBOX study was carried out in three hospitals from cities located in different Spanish areas: Hospital Clínico Universitario de Santiago (Santiago de Compostela), Hospital Clínico Universitario Lozano Blesa (Zaragoza), and Hospital Universitario Reina Sofía (Córdoba)." . _:4e132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33171599"; "Dietary Patterns and Their Association with Body Composition and Cardiometabolic Markers in Children and Adolescents: Genobox Cohort."; "PMID:33171599", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7695147/fullTextXML"; rdfs:comment "A total of 793 children from those recruited in the GENOBOX clinic cohort participated in this study after applying the inclusion and exclusion criteria." . _:4e142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre hospital-based case–control study of children and adolescents in Spain, recruited at the university hospitals of Santiago de Compostela (Hospital Clínico Universitario de Santiago), Zaragoza (Hospital Clínico Universitario Lozano Blesa) and Córdoba (Hospital Universitario Reina Sofía): cases attending hospital with suspected overweight or obesity, and controls attending for minor disorders or common infections that were not confirmed, studied to understand the pathophysiology and cardiometabolic, inflammatory and oxidative-stress risk factors of childhood obesity."; " PMID:35596598 ", " https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GENOBOX", "PMID:33171599 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1775; "children and adolescents in the cohort, as listed in the catalogue (1998-2015)"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/GENOBOX"; rdfs:comment "Number of participants 1775" . _:4e162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENOBOX"; . _:4e172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Genobox"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22300, _:genid-371333f489424440b12a13b9d98ced822608-genid22302, _:genid-371333f489424440b12a13b9d98ced822608-genid22304, _:genid-371333f489424440b12a13b9d98ced822608-genid22306; , ; "PMID:35409976"; "A hospital-based prospective birth cohort of pregnant women aged 16 or over living in the city of Rio de Janeiro, Brazil, and their children born at the Maternity School of the Federal University of Rio de Janeiro, coordinated by the university's Institute for Studies in Collective Health with Fiocruz, in which mothers and children are followed with interviews, examinations and biological samples from pregnancy to age four to study the effects of prenatal and early-life exposure to metals, pesticides and plasticisers on child health and development; a pilot phase ran from September 2017 to August 2018."; 142; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PIPA"; "Birth Cohort Study of Environmental Exposure and Childhood Development – PIPAUFRJ Project", "Birth Cohort Study of Environmental Exposure and Childhood Development – PIPAUFRJ Project", "PIPA", "PIPA Project", "PIPA Study", "PIPA UFRJ", "PIPA project", "PIPA study", "PIPA/UFRJ", "PIPAUFRJ", "Projeto Infância e Poluentes Ambientais", "Rio Birth Cohort", "Rio Birth Cohort Study", "Rio Birth Cohort Study of Environmental Exposure and Childhood Development", "Rio Birth Cohort Study on Environmental Exposure and Child Development", "Rio birth cohort"; ; rdfs:label "Rio Birth Cohort Study on Environmental Exposure and Childhood Development"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22300 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22302 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22304 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22306 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22300; "pesticides"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7292139/fullTextXML"; rdfs:comment "The Rio Birth Cohort Study (PIPA project) is a prospective maternal-infant health study, hosted in the city of Rio de Janeiro (Southeastern Brazil), designed to investigate separate and combined effects of environmental chemical pollutants, as well as the interactions between these exposures and sociocultural environment and epigenetic patterns." . _:4e192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22302; "environmental chemical pollutants"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7292139/fullTextXML"; rdfs:comment "The Rio Birth Cohort Study (PIPA project) is a prospective maternal-infant health study, hosted in the city of Rio de Janeiro (Southeastern Brazil), designed to investigate separate and combined effects of environmental chemical pollutants, as well as the interactions between these exposures and sociocultural environment and epigenetic patterns." . _:4e1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22304; "metals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7292139/fullTextXML"; rdfs:comment "The Rio Birth Cohort Study (PIPA project) is a prospective maternal-infant health study, hosted in the city of Rio de Janeiro (Southeastern Brazil), designed to investigate separate and combined effects of environmental chemical pollutants, as well as the interactions between these exposures and sociocultural environment and epigenetic patterns." . _:4e1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22306; "plasticizers"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7292139/fullTextXML"; rdfs:comment "The Rio Birth Cohort Study (PIPA project) is a prospective maternal-infant health study, hosted in the city of Rio de Janeiro (Southeastern Brazil), designed to investigate separate and combined effects of environmental chemical pollutants, as well as the interactions between these exposures and sociocultural environment and epigenetic patterns." . _:4e1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7292139/fullTextXML"; rdfs:comment "The Rio Birth Cohort Study (PIPA project) is a prospective maternal-infant health study, hosted in the city of Rio de Janeiro (Southeastern Brazil), designed to investigate separate and combined effects of environmental chemical pollutants, as well as the interactions between these exposures and sociocultural environment and epigenetic patterns." . _:4e1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35409976"; "Prenatal Exposure to Metals and Neurodevelopment in Infants at Six Months: Rio Birth Cohort Study of Environmental Exposure and Childhood Development (PIPA Project)."; "PMID:35409976", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8998578/fullTextXML"; rdfs:comment "The PIPA Project is a prospective birth cohort study based in Rio de Janeiro, Brazil, whose pilot study was carried out between October 2017 and August 2018." . _:4e1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based prospective birth cohort of pregnant women aged 16 or over living in the city of Rio de Janeiro, Brazil, and their children born at the Maternity School of the Federal University of Rio de Janeiro, coordinated by the university's Institute for Studies in Collective Health with Fiocruz, in which mothers and children are followed with interviews, examinations and biological samples from pregnancy to age four to study the effects of prenatal and early-life exposure to metals, pesticides and plasticisers on child health and development; a pilot phase ran from September 2017 to August 2018."; " https://pipaufrj.me.ufrj.br/sobre/", "PMID:32566487 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 142; "pregnant women enrolled in the pilot phase only (135 children born), 2017-2018"; "PMID:35409976"; rdfs:comment "A pilot study (PIPA Pilot study) was carried out between September 2017 and August 2018, with 142 pregnant women enrolled in and 135 children born at the Federal University of Rio de Janeiro Maternity School [24]." . _:4e202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIPA"; . _:4e212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIPA UFRJ"; . _:4e222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIPA/UFRJ"; . _:4e232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIPAUFRJ"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22316, _:genid-371333f489424440b12a13b9d98ced822608-genid22318, _:genid-371333f489424440b12a13b9d98ced822608-genid22320; , ; "PMID:42225914"; "A prospective birth cohort of pregnant women receiving prenatal care through the Mexican Social Security Institute (IMSS) in Mexico City, recruited from July 2007 to February 2010, and their children, run by the Icahn School of Medicine at Mount Sinai, Harvard University and Mexico's National Institute of Public Health, and followed to study how prenatal and early-life exposure to metals, air pollution and phthalates, together with chronic psychosocial stress, affects child neurodevelopment, growth and metabolic health."; "The acronym PROGRESS also denotes PROGReSS study (COHO:0002284); this term is Programming Research in Obesity, Growth, Environment and Social Stressors."@en; 948; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROGRESS"; "PROGRESS", "PROGRESS cohort", "PROGRESS study", "Programming Research in Obesity, Growth, Environment, and Social Stressors"; ; rdfs:label "Programming Research in Obesity, Growth, Environment and Social Stressors"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22316 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22318 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22320 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22316; "air pollution"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROGRESS"; rdfs:comment "PROGRESS is a longitudinal birth cohort study conducted in Mexico that investigates prenatal exposure to mixtures of metals, air pollution, and phthalates." . _:4e252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22318; "metals"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROGRESS"; rdfs:comment "PROGRESS is a longitudinal birth cohort study conducted in Mexico that investigates prenatal exposure to mixtures of metals, air pollution, and phthalates." . _:4e262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22320; "phthalates"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROGRESS"; rdfs:comment "PROGRESS is a longitudinal birth cohort study conducted in Mexico that investigates prenatal exposure to mixtures of metals, air pollution, and phthalates." . _:4e272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13522492/fullTextXML"; rdfs:comment "In the PROGRESS cohort (n = 434) in Mexico City, we modeled ambient PM2.5 exposure during pregnancy and the first year of life." . _:4e282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42225914"; "Inhibitory control mediates the association between perinatal PM2.5 exposure and childhood obesity in children in the PROGRESS cohort, Mexico City."; "PMID:42225914", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13522492/fullTextXML"; rdfs:comment "The Programming Research in Obesity, Growth, Environment, and Social Stressors (PROGRESS) study recruited pregnant women who received prenatal care through the Mexican Social Security System (Instituto Mexicano del Seguro Social, IMSS) between July 2007 and February 2010." . _:4e292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of pregnant women receiving prenatal care through the Mexican Social Security Institute (IMSS) in Mexico City, recruited from July 2007 to February 2010, and their children, run by the Icahn School of Medicine at Mount Sinai, Harvard University and Mexico's National Institute of Public Health, and followed to study how prenatal and early-life exposure to metals, air pollution and phthalates, together with chronic psychosocial stress, affects child neurodevelopment, growth and metabolic health."; " https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROGRESS", " https://mountsinaiexposomics.org/progress/ ", "PMID:42225914 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 948; "mothers enrolled in pregnancy who gave birth to a live child (2007-2010)"; "PMID:42225914"; rdfs:comment "A total of 948 mothers were enrolled in pregnancy and gave birth to a live child." . _:4e2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROGRESS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22327, _:genid-371333f489424440b12a13b9d98ced822608-genid22329; , , ; "PMID:29847083"; "A prospective community-based birth cohort of pregnant women aged 15 or over living in 40 villages of Matina County, Limón, Costa Rica, within 5 km of large-scale banana plantations where the fungicide mancozeb is sprayed from the air, enrolled from March 2010 to June 2011 by the Central American Institute for Studies on Toxic Substances (IRET) of the Universidad Nacional, and their children, followed to study the effects of prenatal pesticide and manganese exposure on children's growth, neurodevelopment and respiratory health and on the mothers' health."; 451; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ISA"; "ISA", "ISA birth cohort study", "ISA cohort", "ISA study", "Infantes y Salud Ambiental", "Infants' Environmental Health (ISA) Study", "Infants’ Environmental Health Study"; ; rdfs:label "Infants' Environmental Health Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22327 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22329 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22327; "prenatal pesticide exposure (aerially sprayed mancozeb, ETU)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4256696/fullTextXML"; rdfs:comment "The Infants’ Environmental Health Study [Infantes y Salud Ambiental (ISA)] is a prospective community-based birth cohort study in Matina County, Limón, Costa Rica, aimed at examining possible effects of prenatal pesticide and manganese exposure on children’s growth and neurodevelopment." . _:4e2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22329; "manganese"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4256696/fullTextXML"; rdfs:comment "The Infants’ Environmental Health Study [Infantes y Salud Ambiental (ISA)] is a prospective community-based birth cohort study in Matina County, Limón, Costa Rica, aimed at examining possible effects of prenatal pesticide and manganese exposure on children’s growth and neurodevelopment." . _:4e2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4256696/fullTextXML"; rdfs:comment "The Infants’ Environmental Health Study [Infantes y Salud Ambiental (ISA)] is a prospective community-based birth cohort study in Matina County, Limón, Costa Rica, aimed at examining possible effects of prenatal pesticide and manganese exposure on children’s growth and neurodevelopment." . _:4e2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29847083"; "Prenatal Mancozeb Exposure, Excess Manganese, and Neurodevelopment at 1 Year of Age in the Infants' Environmental Health (ISA) Study."; "PMID:29847083", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6072008/fullTextXML"; rdfs:comment "We measured urinary ETU, hair Mn, and blood Mn concentrations in samples collected 1–3 times during pregnancy from mothers enrolled in the Infants’ Environmental Health (ISA) study." . _:4e302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective community-based birth cohort of pregnant women aged 15 or over living in 40 villages of Matina County, Limón, Costa Rica, within 5 km of large-scale banana plantations where the fungicide mancozeb is sprayed from the air, enrolled from March 2010 to June 2011 by the Central American Institute for Studies on Toxic Substances (IRET) of the Universidad Nacional, and their children, followed to study the effects of prenatal pesticide and manganese exposure on children's growth, neurodevelopment and respiratory health and on the mothers' health."; " PMID:29847083 ", " https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ISA", "PMID:25198283 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 451; "pregnant women enrolled (2010-2011)"; "PMID:25198283"; rdfs:comment "We enrolled 451 pregnant women from Matina County, Costa Rica, which has large-scale banana production." . _:4e322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ISA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22336, _:genid-371333f489424440b12a13b9d98ced822608-genid22338; , , , , , , , ; "PMID:42251497"; "A multicentre cohort of people with Alzheimer's disease or frontotemporal dementia and cognitively unimpaired controls, recruited at memory clinics and other clinical and community sites in Argentina, Brazil, Chile, Colombia, Mexico and Peru by the Multi-Partner Consortium to Expand Dementia Research in Latin America with the University of California San Francisco Memory and Aging Center, and assessed under a harmonised protocol (clinical, cognitive, genetic, neuroimaging and EEG data, and a questionnaire on lifelong social exposures) to study how genetic, social and environmental factors shape dementia and brain health in Latin America compared with the United States."; 5834; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ReDLat"; "Multi-partner consortium to expand dementia research in Latin America", "Multi‐Partner Consortium to Expand Dementia Research in Latin America", "ReD-Lat", "ReDLat", "ReDLat Study", "ReDLat cohort", "ReDLat consortium", "ReDLat project", "RedLat"; ; rdfs:label "Multi-Partner Consortium to Expand Dementia Research in Latin America"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22336 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22338 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22336; "Alzheimer's disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12827047/fullTextXML"; rdfs:comment "The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat) recruited 2162 participants with AD, FTD, or healthy controls from six countries: Argentina, Brazil, Chile, Colombia, Mexico, and Peru." . _:4e342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22338; "frontotemporal dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12827047/fullTextXML"; rdfs:comment "The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat) recruited 2162 participants with AD, FTD, or healthy controls from six countries: Argentina, Brazil, Chile, Colombia, Mexico, and Peru." . _:4e352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12827047/fullTextXML"; rdfs:comment "The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat) recruited 2162 participants with AD, FTD, or healthy controls from six countries: Argentina, Brazil, Chile, Colombia, Mexico, and Peru." . _:4e362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42251497"; "Social vulnerability shapes deep clinical phenotypes and brain health in aging and dementia across Latin America."; "PMID:42251497", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13242611/fullTextXML"; rdfs:comment "The large, diverse, and well‐characterized ReDLat cohort, drawn from six Latin American countries, increases the generalizability of results across varied cultural and clinical contexts." . _:4e372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multicentre cohort of people with Alzheimer's disease or frontotemporal dementia and cognitively unimpaired controls, recruited at memory clinics and other clinical and community sites in Argentina, Brazil, Chile, Colombia, Mexico and Peru by the Multi-Partner Consortium to Expand Dementia Research in Latin America with the University of California San Francisco Memory and Aging Center, and assessed under a harmonised protocol (clinical, cognitive, genetic, neuroimaging and EEG data, and a questionnaire on lifelong social exposures) to study how genetic, social and environmental factors shape dementia and brain health in Latin America compared with the United States."; " PMID:41586258 ", " PMID:42251497 ", " https://red-lat.com/en-the-project/", "PMID:33776890 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5834; "participants enrolled (retrospective and prospective cohorts) as of 17 August 2024"; "PMID:41586258"; rdfs:comment "As of August 17, 2024, a total of 5834 participants had been enrolled in the study (Fig. 1)." . _:4e392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ReD-Lat"; . _:4e3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ReDLat"; . _:4e3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RedLat"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22347; , , , , , , , , , , , , ; "PMID:37838044"; "A cross-sectional field study of the EU Horizon 2020 SPRINT project in which, during the 2021 growing season, conventional and organic farmers and their families, neighbours living next to or near agricultural fields, and consumers living farther away were recruited at ten case study sites in Europe and one in Argentina, and gave urine, blood, faeces and nasal swabs and wore silicone wristbands (with indoor dust sampled in their homes), to measure their exposure to pesticide mixtures for exposure modelling and health risk assessment."; 792; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SPRINT"; "SPRINT", "SPRINT project", "Sustainable Plant Protection Transition", "Sustainable Plant-Protection Transition"; ; rdfs:label "Sustainable plant protection transition: a global health approach"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22347 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22347; "pesticide mixtures (plant protection products) among farmers, neighbours of agricultural fields and consumers"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SPRINT"; rdfs:comment "Cross-sectional study performed in 2021 to assess differences in exposure of farmers (organic and non-organic practises), neighbours (people living close to agricultural fields) and controls ('consumers' living away from agricultural fields) to pesticides." . _:4e3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8592492/fullTextXML"; rdfs:comment "An additional study site in Argentina will inform the impact of PPP use on growing soybean which is an important European protein-source in animal feed." . _:4e3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/cshr"; rdfs:comment "The case study area is located on the largest peninsula of the Republic of Croatia in the northern part of the Adriatic coast, Istria (Figure 1)." . _:4e3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/cscz"; rdfs:comment "The case study is realised in the Czech Republic located in the Central Europe (see Fig. 1)." . _:4e402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/csdk"; rdfs:comment "The farms within the Case study area in Denmark are located in North and Central Jutland, in the western part of Denmark (Figure 1)." . _:4e412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/csfr"; rdfs:comment "The case study is located in Southwestern France, near the Atlantic Coast, in the Nouvelle Aquitaine Region (Figure 1)." . _:4e422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/csit"; rdfs:comment "The Po Valley is the largest plain of southern Europe, with an extension of around 650 km from the Western Alps to the Adriatic Sea; it is located in Northern Italy" . _:4e432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/csnl"; rdfs:comment "The study site is located in the northern part of The Netherlands, enclosed by the Waddensea in the north (Figure 1)." . _:4e442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/cspt"; rdfs:comment "The case study is located in the central littoral of Portugal" . _:4e452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/cssi"; rdfs:comment "The Case study of Central Slovenia (2.555 km2) is located in the central part of Slovenia (300 m - 2.400 m altitude)." . _:4e462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/cses"; rdfs:comment "The Campo de Cartagena basin is located in the southeast of Spain (Figure 1)." . _:4e472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://sprint-h2020.eu/case-studies/csch"; rdfs:comment "CSS4 is located in Canton Bern close to the university of Bern." . _:4e482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37838044"; "Occurrence of pesticide residues in indoor dust of farmworker households across Europe and Argentina."; "PMID:37838044", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37838044+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the present study, part of the Horizon 2020 funded SPRINT project, the presence of 198 pesticide residues was assessed in 128 indoor dust samples from both conventional and organic farmworker households across Europe, and in Argentina." . _:4e492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional field study of the EU Horizon 2020 SPRINT project in which, during the 2021 growing season, conventional and organic farmers and their families, neighbours living next to or near agricultural fields, and consumers living farther away were recruited at ten case study sites in Europe and one in Argentina, and gave urine, blood, faeces and nasal swabs and wore silicone wristbands (with indoor dust sampled in their homes), to measure their exposure to pesticide mixtures for exposure modelling and health risk assessment."; " https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SPRINT", "PMID:34780516 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 792; "subjects of the 2021 field study, as listed in the catalogue"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SPRINT"; rdfs:comment "Number of participants 792" . _:4e4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SPRINT"; . a owl:NamedIndividual, ; , ; ; "PMID:39343441"; "A population-based prospective cohort of adults aged 38 to 74 years living in the agricultural county of Molina, in the Maule Region of central Chile, identified through a household census and enrolled from December 2014 by the Advanced Center for Chronic Diseases (ACCDiS) of the Universidad de Chile and the Pontificia Universidad Católica de Chile, with questionnaires, physical examinations, ultrasound and a biobank of blood, urine and saliva, and followed with repeat visits and surveillance of hospital events to study the natural history and environmental, lifestyle and social determinants of chronic diseases such as cardiometabolic diseases and cancer."; 9462; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MAUCO"; "MAUCO", "MAUCO cohort", "Maule Cohort Study", "Maule cohort"; , ; rdfs:label "Maule Cohort"@en; rdfs:seeAlso . _:4e4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4743396/fullTextXML"; rdfs:comment "Maule Cohort (MAUCO), a Chilean cohort study, seeks to analyze the natural history of chronic diseases in the agricultural county of Molina (40,000 inhabitants) in the Maule Region, Chile." . _:4e4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39343441"; "Sex disparities in gallstone disease: insights from the MAUCO prospective population-based cohort study."; "PMID:39343441", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11440185/fullTextXML"; rdfs:comment "8948 MAUCO participants (aged 38–74 years) underwent abdominal ultrasound at baseline (2015–2019); 4385 received follow-up ultrasound at years 2 or 4." . _:4e4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of adults aged 38 to 74 years living in the agricultural county of Molina, in the Maule Region of central Chile, identified through a household census and enrolled from December 2014 by the Advanced Center for Chronic Diseases (ACCDiS) of the Universidad de Chile and the Pontificia Universidad Católica de Chile, with questionnaires, physical examinations, ultrasound and a biobank of blood, urine and saliva, and followed with repeat visits and surveillance of hospital events to study the natural history and environmental, lifestyle and social determinants of chronic diseases such as cardiometabolic diseases and cancer."; " https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MAUCO", "PMID:26847446 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9462; "adults recruited 2014-2020"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/MAUCO"; rdfs:comment "The study recruited 9,462 adults aged 35–74 years between 2014 and 2020." . _:4e502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MAUCO"; . a owl:NamedIndividual, ; , ; "PMID:31607766"; "A population-based cross-sectional national survey of community-dwelling adults aged 60 years and over in urban and rural areas of Colombia, carried out in 2015 for the Colombian Ministry of Health and Social Protection by the University of Caldas and the Universidad del Valle with the design of the Latin American and Caribbean Survey on Health, Well-Being, and Aging (SABE), to study health, active ageing and the social determinants of health inequities in older people."; 23694; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/SABE"; "SABE", "SABE (Health, Wellbeing, and Aging) Colombia project", "SABE Colombia", "SABE Colombia 2015", "SABE-2015 Colombia"; ; rdfs:label "Survey on Health, Well-Being, and Aging in Colombia"@en . _:4e512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5124445/fullTextXML"; rdfs:comment "This is a cross-sectional study of community-dwelling elderly individuals living in urban and rural areas of Colombia." . _:4e522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31607766"; "Frailty in older adults and their association with social determinants of Health. The SABE Colombia Study."; "PMID:31607766", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31607766+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The SABE (Health, Wellbeing, and Aging) Colombia project is a cross-sectional study, carried out in 2014-2015, involving 24,553 men and women aged 60 years and older who live in the community in Colombia." . _:4e532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cross-sectional national survey of community-dwelling adults aged 60 years and over in urban and rural areas of Colombia, carried out in 2015 for the Colombian Ministry of Health and Social Protection by the University of Caldas and the Universidad del Valle with the design of the Latin American and Caribbean Survey on Health, Well-Being, and Aging (SABE), to study health, active ageing and the social determinants of health inequities in older people."; "PMID:27956896", "PMID:31607769"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23694; "older adults surveyed (effective surveys) in 244 municipalities (2015)"; "PMID:31607769"; rdfs:comment "A total of 36,153 older adults were found, of these 23,694 surveys were carried out, for a percentage of national effective response of 66% in 244 municipalities (Table 2)." . _:4e552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SABE"; . _:4e562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SABE Colombia"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22375, _:genid-371333f489424440b12a13b9d98ced822608-genid22377; , ; "PMID:35070447"; "A repeated nationally representative cross-sectional household survey of the nutritional situation of the population of Colombia, conducted by the Colombian Institute for Family Welfare (ICBF) with the Ministry of Health in 2005, 2010 and 2015, covering people aged 0 to 64 years and pregnant women, that measures nutritional status, dietary intake, food security, breastfeeding and physical activity to inform public food and nutrition policy."; 151343; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ENSIN"; "015National Nutrition Survey (ENSIN in Spanish)", "2015 National Nutrition Survey", "ENSIN", "ENSIN 2005", "ENSIN 2010", "ENSIN 2015", "ENSIN-2015", "Encuesta Nacional de Situación Nutricional de Colombia", "Encuesta Nacional de la Situación Nutricional en Colombia", "National Nutrition Survey"; ; rdfs:label "Encuesta Nacional de Situación Nutricional"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22375 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22377 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22375; "dietary intake"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8776471/fullTextXML"; rdfs:comment "The ENSIN-2015 estimated dietary intake using the 24-hour recall method (24 HR) [13, 14]." . _:4e582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22377; "nutritional situation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8776471/fullTextXML"; rdfs:comment "The ENSIN-2015 estimated dietary intake using the 24-hour recall method (24 HR) [13, 14]." . _:4e592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8776471/fullTextXML"; rdfs:comment "In Colombia, South America, the Colombian Institute for Family Wellbeing (ICBF in Spanish) along with the Ministry of Health (MinSalud) conducted the ENSIN-2015, which is representative of 99% of the Colombian population" . _:4e5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35070447"; "Intake of Animal Protein and Dietary Sources in the Colombian Population: Results of the National Nutrition Survey (ENSIN-2015)."; "PMID:35070447", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8776471/fullTextXML"; rdfs:comment "This study was based on data gathered from the 2015 National Nutrition Survey (ENSIN in Spanish)." . _:4e5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A repeated nationally representative cross-sectional household survey of the nutritional situation of the population of Colombia, conducted by the Colombian Institute for Family Welfare (ICBF) with the Ministry of Health in 2005, 2010 and 2015, covering people aged 0 to 64 years and pregnant women, that measures nutritional status, dietary intake, food security, breastfeeding and physical activity to inform public food and nutrition policy."; "PMID:35070447", "https://www.icbf.gov.co/bienestar/nutricion/encuesta-nacional-situacion-nutricional"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 151343; "people interviewed in the 2015 round (44,202 households), 2015-2016"; "https://www.icbf.gov.co/bienestar/nutricion/encuesta-nacional-situacion-nutricional"; rdfs:comment "La tercera Encuesta Nacional de Situación Nutricional de Colombia (ENSIN) 2015 es una operación estadística poblacional realizada entre noviembre de 2015 a diciembre de 2016, en la cual, se entrevistaron 151.343 personas de 44.202 hogares en 295 municipios del país." . _:4e5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENSIN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22384; ; , , , , , , , , , , , , , , ; "PMID:42724639"; "A consortium of population-based cohort studies from countries of Latin America and the Caribbean, set up with Wellcome Trust funding and run from Imperial College London with a regional network of researchers, that harmonises and pools individual-level data on cardio-metabolic risk factors and fatal and non-fatal cardiovascular outcomes to produce regional risk estimates and tools for cardiovascular prevention."; 174180; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CC-LAC"; "CC-LAC", "The Cohorts Consortium of Latin America and the Caribbean (CC-LAC)"; ; rdfs:label "Cohorts Consortium of Latin America and the Caribbean"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22384 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22384; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7746413/fullTextXML"; rdfs:comment "The main aim of the CC-LAC is to start a collaborative cohort data pooling in LAC to examine the association between cardio-metabolic risk factors (e.g. blood pressure, glucose and lipids) and non-fatal and fatal cardiovascular outcomes (e.g. stroke or myocardial infarction)." . _:4e5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://europepmc.org/article/PMC/PMC7746413"; rdfs:comment "The aforementioned 7 cohorts that have not been pooled because cardiovascular outcomes are not yet available include: CRONICAS Cohort Study (Peru), 27 Mexican Health & Aging Study (Mexico), 28 Puerto Rican Elderly Health Conditions (Puerto Rico), 29 Costa Rican Longevity and Healthy Aging Study (CRELES) 1945–1955 Retirement Cohort (Costa Rica), 30 Influence of Biopsychosocial Factors on the Survival of the Elderly in Northeast Brazil—A Prospective Study (Brazil), 31 Baependi Heart Study (Brazil) 32 and MONICA-VITÓRIA study (Brazil)." . _:4e602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7746413/fullTextXML"; rdfs:comment "The aforementioned 7 cohorts that have not been pooled because cardiovascular outcomes are not yet available include: CRONICAS Cohort Study (Peru),27 Mexican Health & Aging Study (Mexico),28 Puerto Rican Elderly Health Conditions (Puerto Rico),29 Costa Rican Longevity and Healthy Aging Study (CRELES) 1945–1955 Retirement Cohort (Costa Rica),30 Influence of Biopsychosocial Factors on the Survival of the Elderly in Northeast Brazil—A Prospective Study (Brazil),31 Baependi Heart Study (Brazil)32 and MONICA-VITÓRIA study (Brazil)." . _:4e612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7746413/fullTextXML"; rdfs:comment "Among those cohorts we currently have pooled, there are two multi-country studies: Centro de Excelencia en Salud Cardiovascular para América del Sur (CESCAS) Cohort (Argentina, Chile and Uruguay)24 and the 10/66 Study (Cuba, Dominican Republic, Peru, Venezuela, Mexico and Puerto Rico),25,26 whereas the other cohort studies were based in only one country." . _:4e622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42724639"; "Visceral adipose tissue and incident cardiovascular disease among individuals without diabetes: an analysis of 15 prospective cohorts from 7 countries in Latin America."; "PMID:42724639", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A42724639+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Here, we evaluated the association between estimated VAT (eVAT) and incident CVD among individuals without diabetes and estimated its population-attributable fraction (PAF) using data from the Cohorts Consortium of Latin America and the Caribbean (CC-LAC)." . _:4e632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium of population-based cohort studies from countries of Latin America and the Caribbean, set up with Wellcome Trust funding and run from Imperial College London with a regional network of researchers, that harmonises and pools individual-level data on cardio-metabolic risk factors and fatal and non-fatal cardiovascular outcomes to produce regional risk estimates and tools for cardiovascular prevention."; "PMID:32888015", "PMID:39687239"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 174180; "individuals pooled from 32 cohorts at the first datalock (29 March 2020)"; "PMID:32888015"; rdfs:comment "At the time of the first datalock, data from 174 180 individuals have been pooled: 171 937 (98.7%) have complete follow-up or were censored (e.g. lost-to follow-up or death by other causes), 578 (0.3%) have had a first non-fatal cardiovascular event and 1665 (1.0%) have experienced a fatal cardiovascular event (Table 1)." . _:4e652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CC-LAC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22393, _:genid-371333f489424440b12a13b9d98ced822608-genid22395, _:genid-371333f489424440b12a13b9d98ced822608-genid22397, _:genid-371333f489424440b12a13b9d98ced822608-genid22399; , ; "PMID:24587469"; "A prospective birth cohort of newborns recruited from 2006 to 2009 at the hospital serving the rural district of Quinindé, Esmeraldas Province, in tropical coastal Ecuador, run by the Laboratorio de Investigaciones FEPIS with St George's, University of London, that follows the children through childhood to study how soil-transmitted helminth infections and other early-life microbial and environmental exposures affect immune development, atopy, allergic disease and asthma."; 2404; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ECUAVIDA"; "ECUAVIDA", "ECUAVIDA birth cohort", "ECUAVIDA cohort", "Ecuador Life study"; ; rdfs:label "Ecuador Life"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22393 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22395 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22397 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22399 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22393; "early-life microbial exposures", "soil-transmitted helminth (STH) parasites"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4681103/fullTextXML"; rdfs:comment "The ECUAVIDA birth cohort is studying the impact of exposures to soil-transmitted helminth (STH) parasites and early-life microbial exposures on the development of atopy, allergic diseases and immune responses in childhood." . _:4e672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22395; "asthma"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ECUAVIDA"; rdfs:comment "What for -The main goal is to investigate the origins of allergic diseases, asthma, and atopy in low- and middle-income tropical settings." . _:4e682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22397; "atopy"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ECUAVIDA"; rdfs:comment "What for -The main goal is to investigate the origins of allergic diseases, asthma, and atopy in low- and middle-income tropical settings." . _:4e692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22399; "allergic diseases"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ECUAVIDA"; rdfs:comment "What for -The main goal is to investigate the origins of allergic diseases, asthma, and atopy in low- and middle-income tropical settings." . _:4e6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4681103/fullTextXML"; rdfs:comment "A total of 2404 newborns were recruited between 2006 and 2009 in a public hospital serving the rural district of Quininde, Esmeraldas Province, in a tropical region of coastal Ecuador." . _:4e6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24587469"; "Risk factors for soil-transmitted helminth infections during the first 3 years of life in the tropics; findings from a birth cohort."; "PMID:24587469", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24587469+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To investigate risk factors for infection in early childhood, we analysed data prospectively collected in the ECUAVIDA birth cohort in Ecuador." . _:4e6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of newborns recruited from 2006 to 2009 at the hospital serving the rural district of Quinindé, Esmeraldas Province, in tropical coastal Ecuador, run by the Laboratorio de Investigaciones FEPIS with St George's, University of London, that follows the children through childhood to study how soil-transmitted helminth infections and other early-life microbial and environmental exposures affect immune development, atopy, allergic disease and asthma."; "PMID:24990475"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2404; "newborns recruited 2006-2009"; "PMID:24990475"; rdfs:comment "A total of 2404 newborns were recruited between 2006 and 2009 in a public hospital serving the rural district of Quininde, Esmeraldas Province, in a tropical region of coastal Ecuador." . _:4e6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECUAVIDA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22406; , ; "PMID:39264897"; "The donors of the Terry Fox National Tumour Bank, the biobank of the Instituto Nacional de Cancerología in Bogotá, Colombia: people with cancer, people without cancer and cancer survivors who gave informed consent, answered an epidemiological questionnaire on clinical, sociodemographic, risk-factor, family cancer and lifestyle information, and donated blood and, at surgery, tumour and adjacent non-tumour tissue, stored for health research with an emphasis on cancer."; 2065; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BNTTF"; "BNTTF", "Banco Nacional de Tumores Terry Fox (BNTTF)", "Banco nacional de tumores terry fox (BNTTF)", "National Tumor Biobank Terry Fox", "Terry Fox National Tumor Bank"; ; rdfs:label "Banco Nacional de Tumores Terry Fox"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22406 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22406; "cancer"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BNTTF"; rdfs:comment "Entre 2011 y 2013 se captaron donantes con cáncer-(DC), donantes sin cáncer-(DCS) y supervivientes, quienes fi rmaron consentimiento informado-(CI) aprobado por el comité de ética institucional" . _:4e702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11392417/fullTextXML"; rdfs:comment "We included 38 patients diagnosed with BC and treated at the National Cancer Institute between 2007 and 2017, who consented to donate their samples to the Terry Fox National Tumor Bank in Bogota, Colombia" . _:4e712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39264897"; "Mutational spectrum of breast cancer by shallow whole-genome sequencing of cfDNA and tumor gene panel analysis."; "PMID:39264897", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11392417/fullTextXML"; rdfs:comment "We included 38 patients diagnosed with BC and treated at the National Cancer Institute between 2007 and 2017, who consented to donate their samples to the Terry Fox National Tumor Bank in Bogota, Colombia" . _:4e722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The donors of the Terry Fox National Tumour Bank, the biobank of the Instituto Nacional de Cancerología in Bogotá, Colombia: people with cancer, people without cancer and cancer survivors who gave informed consent, answered an epidemiological questionnaire on clinical, sociodemographic, risk-factor, family cancer and lifestyle information, and donated blood and, at surgery, tumour and adjacent non-tumour tissue, stored for health research with an emphasis on cancer."; "PMID:39264897", "PMID:40065011", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BNTTF"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2065; "donors recruited 2011-2013, as listed in the catalogue"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BNTTF"; rdfs:comment "Number of participants 2065" . _:4e742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BNTTF"; . a owl:NamedIndividual, ; , , ; "PMID:31816882"; "A nationally representative longitudinal survey of community-dwelling people aged 45 years and older in China and their spouses, run from the National School of Development of Peking University, with a 2008 pilot in two provinces and a national baseline in 2011-2012 drawn by multistage probability sampling from 150 counties in 28 provinces, followed up every two years and harmonised with the Health and Retirement Study, to study the health, social and economic consequences of population ageing."; 17708; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/CHARLS"; "CHARLS"; ; rdfs:label "China Health and Retirement Longitudinal Study"@en . _:4e752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A23243115+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The China Health and Retirement Longitudinal Study (CHARLS) is a nationally representative longitudinal survey of persons in China 45 years of age or older and their spouses, including assessments of social, economic, and health circumstances of community-residents." . _:4e762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31816882"; "Public Health Insurance, Non-Farm Labor Supply, and Farmers' Income: Evidence from New Rural Cooperative Medical Scheme."; "PMID:31816882", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31816882+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our dataset comprised of 8273 people, aged 45 or above, from the China Health and Retirement Longitudinal Study (CHARLS) conducted in 2011 and 2013." . _:4e772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationally representative longitudinal survey of community-dwelling people aged 45 years and older in China and their spouses, run from the National School of Development of Peking University, with a 2008 pilot in two provinces and a national baseline in 2011-2012 drawn by multistage probability sampling from 150 counties in 28 provinces, followed up every two years and harmonised with the Health and Retirement Study, to study the health, social and economic consequences of population ageing."; "PMID:23243115"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17708; "respondents in the 2011-2012 national baseline"; "PMID:23243115"; rdfs:comment "The national baseline survey for the study was conducted between June 2011 and March 2012 and involved 17 708 respondents." . _:4e792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CHARLS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22418; , ; "PMID:41159539"; "A national cohort in England of people who took part in the REal-time Assessment of Community Transmission programme of Imperial College London, which from 2020 sent random samples of people aged 5 years and older, drawn from National Health Service general practice registers, SARS-CoV-2 swab tests (REACT-1) and antibody self-tests (REACT-2) for the Department of Health and Social Care, and who consented to recontact and linkage to their health records, used to study the longer-term effects of the COVID-19 pandemic and other factors on health and wellbeing."; 3000000; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/REACT"; "REACT", "REACT Cohort", "REACT Study", "REACT programme", "Real-time Assessment of Community Transmission", "Real-time Assessment of Community Transmission (REACT) Study"; ; rdfs:label "REal-time Assessment of Community Transmission"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22418 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22418; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36893367+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The REal-time Assessment of Community Transmission-1 (REACT-1) Study was funded by the Department of Health and Social Care in England to provide reliable and timely estimates of prevalence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection over time, by person and place." . _:4e7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36893367+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study team (researchers from Imperial College London and its logistics partner Ipsos) wrote to named individuals aged 5 years and older in random cross-sections of the population of England, using the National Health Service list of patients registered with a general practitioner (near-universal coverage) as a sampling frame." . _:4e7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41159539"; "\"I Put a Lot of Emphasis on Work Because I Want to Keep My Job\": A Population-Based Interview Study of Long Covid and Employment Changes in England."; "PMID:41159539", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A41159539+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a qualitative analysis of data from the Real-time Assessment of Community Transmission (REACT) Study." . _:4e7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national cohort in England of people who took part in the REal-time Assessment of Community Transmission programme of Imperial College London, which from 2020 sent random samples of people aged 5 years and older, drawn from National Health Service general practice registers, SARS-CoV-2 swab tests (REACT-1) and antibody self-tests (REACT-2) for the Department of Health and Social Care, and who consented to recontact and linkage to their health records, used to study the longer-term effects of the COVID-19 pandemic and other factors on health and wellbeing."; "PMID:36893367", "PMID:37733993", "https://www.imperial.ac.uk/medicine/research-and-impact/groups/react-study/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3000000; "people consenting to recontact and/or health-data linkage (stated as 'over 3 million')"; "https://www.imperial.ac.uk/medicine/research-and-impact/groups/react-study/"; rdfs:comment "REACT Cohort is now made up of over 3 million people who have consented to follow-up by providing permission for us to contact them future research and/or to link to their health data." . _:4e7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REACT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22425; , ; "PMID:36006149"; "A local birth cohort of children born between 2010 and 2015 to mothers living in the neighbouring rural municipalities of Dessel, Mol and Retie in Flanders, Belgium, run by the Flemish Institute for Technological Research (VITO) and co-financed by the Belgian radioactive waste agency and local consultation bodies, that follows the children with human biomonitoring and questionnaires, alongside the municipalities' disease and mortality registers, to monitor the effects of environmental and lifestyle exposures on health."; 301; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/3xG"; "3XG", "3XG study", "3xG", "3xG study (Gezondheid, Gemeenten, Geboorten)", "Gezondheid, Gemeenten, Geboorten", "Health—Municipalities—Birth"; ; rdfs:label "3xG study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22425 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22425; "environmental and lifestyle exposure", "environmental exposures via biomonitoring"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10058482/fullTextXML"; rdfs:comment "The aim of the 3xG study is to follow-up the health and development of growing children as a sentinel population and to study the influence of environmental exposures via biomonitoring." . _:4e812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10058482/fullTextXML"; rdfs:comment "The 3xG study (Health—Municipalities—Birth, translated from Gezondheid, Gemeenten, Geboorten) is a birth cohort study that monitors and promotes health of the inhabitants of three bordering rural communities (Dessel, Mol, and Retie) in Flanders, Belgium." . _:4e822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36006149"; "Glyphosate and AMPA in Human Urine of HBM4EU Aligned Studies: Part A Children."; "PMID:36006149", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9415901/fullTextXML"; rdfs:comment "The urinary data on Gly and AMPA were obtained from Germany (GerES V-sub; 2015–2017), Cyprus (ORGANIKO; 2017), Slovenia (SLO CRP; 2018), France (ESTEBAN; 2014–2016) and Belgium (3XG; 2019–2020)." . _:4e832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A local birth cohort of children born between 2010 and 2015 to mothers living in the neighbouring rural municipalities of Dessel, Mol and Retie in Flanders, Belgium, run by the Flemish Institute for Technological Research (VITO) and co-financed by the Belgian radioactive waste agency and local consultation bodies, that follows the children with human biomonitoring and questionnaires, alongside the municipalities' disease and mortality registers, to monitor the effects of environmental and lifestyle exposures on health."; "PMID:36976969", "https://studie3xg.be/nl"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 301; "children followed in the cohort"; "https://studie3xg.be/nl"; rdfs:comment "Dit gebeurt door onderzoek bij 301 opgroeiende kinderen uit de regio en door verwerking van de ziekte- en sterfteregisters van de drie gemeenten." . _:4e852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3XG"; . _:4e862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "3xG"; . a owl:NamedIndividual, ; , ; "PMID:37656714"; "A nationally representative longitudinal birth cohort of children born in Hungary between March 2018 and April 2019 and their parents, recruited in pregnancy and run by the Hungarian Demographic Research Institute of the Hungarian Central Statistical Office, to study the circumstances of childbearing and childrearing and the parental, family and social factors that shape children's development."; 8287; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Cohort18"; "Cohort '18", "Cohort '18 -Growing Up in Hungary", "Cohort ’18", "Cohort18", "Growing Up In Hungary, HCSO Hungarian Demographic Research Institute", "Growing Up in Hungary", "Kohorsz '18", "Kohorsz ‘18 Magyar Születési Kohorszvizsgálat", "Kohorsz ’18"; ; rdfs:label "Cohort ’18, Growing Up in Hungary"@en . _:4e872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37656714+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "It is based on a nationwide representative sample of pregnant women who gave birth between March 2018 and April 2019." . _:4e882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37656714"; "Socio-economic differences among low-birthweight infants in Hungary. Results of the Cohort '18 -Growing Up in Hungary birth cohort study."; "PMID:37656714", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37656714+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Source of data is the first and second wave of the Cohort '18 -Growing Up in Hungary longitudinal birth cohort study (n = 8185)." . _:4e892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationally representative longitudinal birth cohort of children born in Hungary between March 2018 and April 2019 and their parents, recruited in pregnancy and run by the Hungarian Demographic Research Institute of the Hungarian Central Statistical Office, to study the circumstances of childbearing and childrearing and the parental, family and social factors that shape children's development."; "PMID:37656714", "https://kohorsz18.hu/en/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8287; "pregnant women who joined in the prenatal wave (2018-2019)"; "https://kohorsz18.hu/en/about-the-study/research-waves.html"; rdfs:comment "By the end of this wave of our data collection, 8,287 expectants joined our study." . _:4e8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohort '18"; . _:4e8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohort ’18"; . _:4e8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Cohort18"; . _:4e8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kohorsz '18"; . _:4e8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Kohorsz ’18"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22442, _:genid-371333f489424440b12a13b9d98ced822608-genid22444, _:genid-371333f489424440b12a13b9d98ced822608-genid22446; , ; "PMID:40814824"; "A nationwide community-based survey of adults in Tuvalu, on Funafuti and the eight outer islands, run in waves since 2020 and funded jointly by the Taiwan International Cooperation and Development Fund and the Tuvalu government, studying diet, lifestyle behaviours, climate-related exposures and obesity and other non-communicable diseases; from 2025 it is being continued as a longitudinal cohort with repeated surveys, clinical assessments and biomonitoring."; 1030; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/COMBAT"; "COMBAT", "COMmunity-based Behaviour and Attitude Study in Tuvalu", "Community Behavior and Attitude Survey in Tuvalu", "Community-based Behaviour and Attitude Study in Tuvalu"; ; rdfs:label "COMmunity-based Behavior and Attitude survey in Tuvalu"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22442 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22444 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22446 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4e902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22442; "lifestyle behaviors"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/COMBAT"; rdfs:comment "The COMBAT cohort is a longitudinal, community-based study in Tuvalu examining lifestyle behaviors, environmental exposures, and health outcomes." . _:4e912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22444; "food consumption patterns"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/COMBAT"; rdfs:comment "The COMBAT cohort is a longitudinal, community-based study in Tuvalu examining lifestyle behaviors, environmental exposures, and health outcomes." . _:4e922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22446; "climate change"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/COMBAT"; rdfs:comment "The COMBAT cohort is a longitudinal, community-based study in Tuvalu examining lifestyle behaviors, environmental exposures, and health outcomes." . _:4e932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10862406/fullTextXML"; rdfs:comment "The COMmunity-based Behavior and Attitude survey in Tuvalu (COMBAT) collected data between February and May 2022 from 1030 adults (985 with complete data) from Funafuti, the main island, and the other 8 outlying islands [17]." . _:4e942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40814824"; "Associations between home gardening and obstructive sleep apnoea: role of behavioural factors in the COMmunity-based Behaviour and Attitude Study in Tuvalu (COMBAT)."; "PMID:40814824", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A40814824+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "ConclusionsIn the COMBAT study, home gardening was associated with lower OSA probability among subgroups with specific lifestyle factors." . _:4e952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide community-based survey of adults in Tuvalu, on Funafuti and the eight outer islands, run in waves since 2020 and funded jointly by the Taiwan International Cooperation and Development Fund and the Tuvalu government, studying diet, lifestyle behaviours, climate-related exposures and obesity and other non-communicable diseases; from 2025 it is being continued as a longitudinal cohort with repeated surveys, clinical assessments and biomonitoring."; "PMID:38351973", "PMID:38810531", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/COMBAT"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1030; "adults surveyed in the 2022 wave"; "PMID:38351973"; rdfs:comment "The COMmunity-based Behavior and Attitude survey in Tuvalu (COMBAT) collected data between February and May 2022 from 1030 adults (985 with complete data) from Funafuti, the main island, and the other 8 outlying islands [17]." . _:4e972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "COMBAT"; . a owl:NamedIndividual, ; , ; "PMID:33952246"; "A prospective birth cohort of babies born at the University Hospital of the University of São Paulo School of Medicine between April 2012 and March 2014 to mothers living in the Butantã-Jaguaré area of São Paulo's Western Region, Brazil, followed to study how social and environmental factors, including toxic stress, affect early childhood development in a low-income urban setting."; 6207; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ROC"; "ROC", "ROC-Cohort", "Região Oeste Coorte", "São Paulo Western Region Birth Cohort (ROC)", "Western Region Birth Cohort"; ; rdfs:label "São Paulo Western Region Birth Cohort"@en . _:4e982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8097258/fullTextXML"; rdfs:comment "This study was conducted in the municipality of São Paulo, Brazil." . _:4e992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33952246"; "Associations between neighborhood violence during pregnancy and birth outcomes: evidence from São Paulo's Western Region Birth Cohort."; "PMID:33952246", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33952246+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Using geocoded birth records from the ongoing Western Region Birth Cohort (Região Oeste Coorte - ROC-Cohort) of infants born between 2012 and 2014 and geocoded crime reports, we assessed the associations between exposure to violent crimes during pregnancy within a 1-km radius of the mother's residence and low birth weight, preterm delivery, and being born small-for-gestational-age." . _:4e9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective birth cohort of babies born at the University Hospital of the University of São Paulo School of Medicine between April 2012 and March 2014 to mothers living in the Butantã-Jaguaré area of São Paulo's Western Region, Brazil, followed to study how social and environmental factors, including toxic stress, affect early childhood development in a low-income urban setting."; "PMID:33952246", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/ROC"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4e9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6207; "mother-child pairs enrolled (births April 2012 - March 2014), 2012-2014"; "PMID:33952246"; rdfs:comment "A total of 7066 births occurred in the period, and 6207 mother-child pairs who resided in the studied setting were enrolled in the cohort." . _:4e9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROC"; . _:4e9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ROC-Cohort"; . a owl:NamedIndividual, ; , ; "PMID:39679959"; "A national longitudinal cohort of people born in 1989-90 who were in Year 9 of secondary school in England in 2004, sampled through schools with over-sampling of deprived schools and ethnic minorities, begun by the Department for Education and run since 2013 by the Centre for Longitudinal Studies at University College London, following their education, work, economic circumstances, family life, health and wellbeing."; 16122; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Next%20Steps"; "LSYPE", "Longitudinal Study of Young People in England", "Longitudinal Study of Young People in England: Next Steps"; ; rdfs:label "Next Steps"@en . _:4e9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11561396/fullTextXML"; rdfs:comment "Next Steps (previously known as the Longitudinal Study of Young People in England, LSYPE) is an ongoing, multidisciplinary, longitudinal study following 16 122 people who were in secondary school in England and were born in 1989–90." . _:4e9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39679959"; "A Longitudinal Analysis Comparing the Mental Health of Children By Level of Young Carer Status."; "PMID:39679959", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A39679959+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The study utilized the Longitudinal Study of Young People in England: Next Steps (LSYPE), a cohort study of over 12,500 children aged 13 in 2004." . _:4ea02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national longitudinal cohort of people born in 1989-90 who were in Year 9 of secondary school in England in 2004, sampled through schools with over-sampling of deprived schools and ethnic minorities, begun by the Department for Education and run since 2013 by the Centre for Longitudinal Studies at University College London, following their education, work, economic circumstances, family life, health and wellbeing."; "PMID:39540417"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ea12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 16122; "cohort members who ever took part (2004-2023), including the Sweep 4 ethnic minority boost"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC11561396/"; rdfs:comment "The total number of cohort members who have ever participated in the study is 16 122, including 352 Black Caribbean and Black African pupils who joined the study at Sweep 4 as part of an ethnic minority boost." . _:4ea22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LSYPE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22464, _:genid-371333f489424440b12a13b9d98ced822608-genid22466, _:genid-371333f489424440b12a13b9d98ced822608-genid22468, _:genid-371333f489424440b12a13b9d98ced822608-genid22470, _:genid-371333f489424440b12a13b9d98ced822608-genid22472; , ; "PMID:36662732"; "A prospective cohort of children under five years old insured by a single health insurance company in Bogotá and Medellín, Colombia, enrolled from 2021 and followed for one year to study how the external exposome, above all particulate matter air pollution, contributes to acute respiratory infections, asthma and early DNA damage."; 506; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROMESA"; "Characterization of the external exposome and its contribution to the clinical respiratory and early biological effects in children: The PROMESA cohort study", "Origin of particulate matter and its effect on children's health", "PROMESA", "PROMESA study"; ; rdfs:label "PROMESA cohort study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22464 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22466 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22468 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22470 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22472 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ea32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22464; "particulate matter (PM2.5)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36662732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aims to characterize the external exposome (ambient and indoor exposures) and its contribution to clinical respiratory and early biological effects in children." . _:4ea42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22466; "NO2"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36662732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aims to characterize the external exposome (ambient and indoor exposures) and its contribution to clinical respiratory and early biological effects in children." . _:4ea52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22468; "external exposome (ambient and indoor exposures)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36662732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This study aims to characterize the external exposome (ambient and indoor exposures) and its contribution to clinical respiratory and early biological effects in children." . _:4ea62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22470; "asthma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36662732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Enrolled children will be followed monthly (phone call) and at months 6 and 12 (in person) post-enrolment with upper and lower Acute Respiratory Infections (ARI) examinations, asthma development, asthma control, and genotoxic damage." . _:4ea72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22472; "acute respiratory infections"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36662732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Enrolled children will be followed monthly (phone call) and at months 6 and 12 (in person) post-enrolment with upper and lower Acute Respiratory Infections (ARI) examinations, asthma development, asthma control, and genotoxic damage." . _:4ea82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9858469/fullTextXML"; rdfs:comment "SettingThe PROMESA study will be conducted in Bogotá and Medellín, the two largest cities in Colombia, as both cities report, in their monitoring network records, that PM2.5 is the pollutant that most deteriorates air quality (Fig 1)." . _:4ea92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36662732"; "Characterization of the external exposome and its contribution to the clinical respiratory and early biological effects in children: The PROMESA cohort study protocol."; "PMID:36662732", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36662732+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Characterization of the external exposome and its contribution to the clinical respiratory and early biological effects in children: The PROMESA cohort study protocol." . _:4eaa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of children under five years old insured by a single health insurance company in Bogotá and Medellín, Colombia, enrolled from 2021 and followed for one year to study how the external exposome, above all particulate matter air pollution, contributes to acute respiratory infections, asthma and early DNA damage."; "PMID:36662732", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROMESA"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4eab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 506; "children, as the cohort's catalogue entry gives it"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/PROMESA"; rdfs:comment "Number of participants 506" . _:4eac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PROMESA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22479, _:genid-371333f489424440b12a13b9d98ced822608-genid22481, _:genid-371333f489424440b12a13b9d98ced822608-genid22483; , , ; "PMID:36178051"; "A population-based prospective mother-child cohort of pregnant women living in the Butajira Health and Demographic Surveillance Site, Meskan and Mareko district, Ethiopia, enrolled from 2017-2018 by the School of Public Health of Addis Ababa University and followed through pregnancy and after birth to study how maternal nutrition, mycotoxin exposure and mental health affect prenatal and postnatal growth and development."; 1024; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BUNMAP"; "BUNMAP", "BUNMAP pregnancy cohort", "Butajira Nutrition, Mental Health, and Pregnancy", "Butajira Nutrition, Mental health, and Pregnancy Project"; ; rdfs:label "Butajira Nutrition, Mental Health, and Pregnancy Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22479 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22481 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22483 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ead2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22479; "mycotoxin exposure"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BUNMAP"; rdfs:comment "Butajira Nutrition, Mental Health, and Pregnancy (BUNMAP) Study, a population-based prospective cohort study aimed at evaluating the role of maternal nutrition, mycotoxin exposure, and mental health on prenatal and postnatal growth and development that was conducted between October 2017 and November 2020 in the Butajira Health and Demographic Surveillance Site under Addis Ababa University, Ethiopia." . _:4eae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22481; "aflatoxin"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BUNMAP"; rdfs:comment "Butajira Nutrition, Mental Health, and Pregnancy (BUNMAP) Study, a population-based prospective cohort study aimed at evaluating the role of maternal nutrition, mycotoxin exposure, and mental health on prenatal and postnatal growth and development that was conducted between October 2017 and November 2020 in the Butajira Health and Demographic Surveillance Site under Addis Ababa University, Ethiopia." . _:4eaf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22483; "maternal nutrition"; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BUNMAP"; rdfs:comment "Butajira Nutrition, Mental Health, and Pregnancy (BUNMAP) Study, a population-based prospective cohort study aimed at evaluating the role of maternal nutrition, mycotoxin exposure, and mental health on prenatal and postnatal growth and development that was conducted between October 2017 and November 2020 in the Butajira Health and Demographic Surveillance Site under Addis Ababa University, Ethiopia." . _:4eb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10464298/fullTextXML"; rdfs:comment "We conducted a prospective community-based cohort study among pregnant women in Butajira, Health and Demographic Surveillance System (HDSS) in Meskanena Mareko District of Ethiopia." . _:4eb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36178051"; "Chronic aflatoxin exposure during pregnancy is associated with lower fetal growth trajectories: a prospective cohort from the Butajira Nutrition, Mental Health, and Pregnancy (BUNMAP) Study in rural Ethiopia."; "PMID:36178051", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A36178051+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Chronic aflatoxin exposure during pregnancy is associated with lower fetal growth trajectories: a prospective cohort from the Butajira Nutrition, Mental Health, and Pregnancy (BUNMAP) Study in rural Ethiopia." . _:4eb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective mother-child cohort of pregnant women living in the Butajira Health and Demographic Surveillance Site, Meskan and Mareko district, Ethiopia, enrolled from 2017-2018 by the School of Public Health of Addis Ababa University and followed through pregnancy and after birth to study how maternal nutrition, mycotoxin exposure and mental health affect prenatal and postnatal growth and development."; "PMID:37620778", "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/BUNMAP"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4eb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1024; "pregnant women enrolled (2017-2019), 2018-2019"; "PMID:37620778"; rdfs:comment "Out of the 1,024 women who were enrolled in the study, 196 women exited from the study." . _:4eb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BUNMAP"; . a owl:NamedIndividual, ; , ; "PMID:34257407"; "The participants of a randomised controlled trial run by the University of São Paulo Medical School from 2015 of Primeiros Laços, a nurse home visiting programme from early pregnancy to the child's age of two years, in low-income first-time pregnant adolescents aged 14-19 recruited through primary healthcare units in the western region of São Paulo, Brazil, and their children, followed to test the programme's effects on child development, maternal and home environment outcomes."; 80; "https://molgeniscatalogue.org/Global%20Exposome%20Cohorts/collections/Primeiros%20Laços"; "First Ties Program", "The Effect of the Young Pregnant Women's Home Visiting Program on Child Development: A Pilot Study", "The Effects on Early Brain Development of a Nurse Home Visitation Program for Pregnant Youth and Their Families Living in a Poor Urban Area in Sao Paulo, Brazil", "YCMP", "Young Caregiving Mothers Program", "Young Caregiving Mothers Program (YCMP)", "Young Caring Mothers Programme"; ; rdfs:label "Primeiros Laços"@en . _:4eb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34257407+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We conducted a randomized controlled trial to test the efficacy of Primeiros Laços, a nurse HVP for adolescent mothers living in a poor urban area of São Paulo, Brazil." . _:4eb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34257407"; "A randomized controlled trial testing the efficacy of a Nurse Home Visiting Program for Pregnant Adolescents."; "PMID:34257407", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34257407+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Eighty adolescent mothers were included and randomized to receive either Primeiros Laços (intervention group, n = 40) or healthcare as usual (control group, n = 40)." . _:4eb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The participants of a randomised controlled trial run by the University of São Paulo Medical School from 2015 of Primeiros Laços, a nurse home visiting programme from early pregnancy to the child's age of two years, in low-income first-time pregnant adolescents aged 14-19 recruited through primary healthcare units in the western region of São Paulo, Brazil, and their children, followed to test the programme's effects on child development, maternal and home environment outcomes."; "PMID:34257407"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4eb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 80; "pregnant adolescents randomised (40 intervention, 40 usual care), 2015-2016"; "PMID:34257407"; rdfs:comment "Eighty adolescent mothers were included and randomized to receive either Primeiros Laços (intervention group, n = 40) or healthcare as usual (control group, n = 40)." . _:4eb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YCMP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22495, _:genid-371333f489424440b12a13b9d98ced822608-genid22497, _:genid-371333f489424440b12a13b9d98ced822608-genid22499, _:genid-371333f489424440b12a13b9d98ced822608-genid22501, _:genid-371333f489424440b12a13b9d98ced822608-genid22503, _:genid-371333f489424440b12a13b9d98ced822608-genid22505; , ; , ; "PMID:37781157"; "A population-based prospective cohort of adults aged 40 to 75 years enrolled between 2004 and 2008 from rural and urban areas of Golestan province in northeast Iran, set up to study oesophageal cancer and followed for cancers and other outcomes, including those attributable to opium use and smoking."; 50045; "GCS", "Golestan cohort study"; ; rdfs:label "Golestan Cohort Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22495 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22497 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22499 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22501 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22503 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22505 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4eba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22495; "alcohol use"; "https://europepmc.org/api/getPdf?pmcid=PMC3709199"; rdfs:comment "The primary aims of the GCS are: (i) To identify risk factors for OC by a comprehensive assessment of ethnicity, occupational history, socio-economic status, past medical history, family history of cancers, gastrointestinal symp- toms and signs, tobacco, opium and alcohol use, oral health, anthropometric characteristics, physi- cal activity and tea drinking habits, including tea temperature." . _:4ebb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22497; "occupational history"; "https://europepmc.org/api/getPdf?pmcid=PMC3709199"; rdfs:comment "The primary aims of the GCS are: (i) To identify risk factors for OC by a comprehensive assessment of ethnicity, occupational history, socio-economic status, past medical history, family history of cancers, gastrointestinal symp- toms and signs, tobacco, opium and alcohol use, oral health, anthropometric characteristics, physi- cal activity and tea drinking habits, including tea temperature." . _:4ebc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22499; "tea drinking habits, including tea temperature"; "https://europepmc.org/api/getPdf?pmcid=PMC3709199"; rdfs:comment "The primary aims of the GCS are: (i) To identify risk factors for OC by a comprehensive assessment of ethnicity, occupational history, socio-economic status, past medical history, family history of cancers, gastrointestinal symp- toms and signs, tobacco, opium and alcohol use, oral health, anthropometric characteristics, physi- cal activity and tea drinking habits, including tea temperature." . _:4ebd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22501; "opium use"; "https://europepmc.org/api/getPdf?pmcid=PMC3709199"; rdfs:comment "The primary aims of the GCS are: (i) To identify risk factors for OC by a comprehensive assessment of ethnicity, occupational history, socio-economic status, past medical history, family history of cancers, gastrointestinal symp- toms and signs, tobacco, opium and alcohol use, oral health, anthropometric characteristics, physi- cal activity and tea drinking habits, including tea temperature." . _:4ebe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22503; "tobacco"; "https://europepmc.org/api/getPdf?pmcid=PMC3709199"; rdfs:comment "The primary aims of the GCS are: (i) To identify risk factors for OC by a comprehensive assessment of ethnicity, occupational history, socio-economic status, past medical history, family history of cancers, gastrointestinal symp- toms and signs, tobacco, opium and alcohol use, oral health, anthropometric characteristics, physi- cal activity and tea drinking habits, including tea temperature." . _:4ebf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22505; "oesophageal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19332502+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Cohort Profile: The Golestan Cohort Study--a prospective study of oesophageal cancer in northern Iran." . _:4ec02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10541463/fullTextXML"; rdfs:comment "Briefly, GCS is a prospective study of 50,045 adults, aged 40–75 years, who were enrolled between 2004 and 2008, from 329 rural and urban areas of the Golestan province in northeast Iran." . _:4ec12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37781157"; "Incident cancers attributable to using opium and smoking cigarettes in the Golestan cohort study."; "PMID:37781157", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10541463/fullTextXML"; rdfs:comment "Incident cancers attributable to using opium and smoking cigarettes in the Golestan cohort study" . _:4ec22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of adults aged 40 to 75 years enrolled between 2004 and 2008 from rural and urban areas of Golestan province in northeast Iran, set up to study oesophageal cancer and followed for cancers and other outcomes, including those attributable to opium use and smoking."; " PMID:19332502", "PMID:37781157 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ec32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50045; "adults aged 40-75 enrolled 2004-2008"; "PMID:37781157"; rdfs:comment "Briefly, GCS is a prospective study of 50,045 adults, aged 40–75 years, who were enrolled between 2004 and 2008, from 329 rural and urban areas of the Golestan province in northeast Iran." . _:4ec42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCS"; . a owl:NamedIndividual, ; , ; ; "PMID:34650201"; "A register-based cohort of everyone in Norway who took part in the national censuses from 1960 to 2001, in which family members are linked through personal identity numbers and household and family information from the 1960 census and further linked to health registers and surveys, for multigenerational life-course research in public health."; 6272827; "NFLC", "Norwegian Family Based Life Course (NFLC) study", "Norwegian family based life course study"; ; rdfs:label "Norwegian Family Based Life Course Study"@en . _:4ec52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22735991%20AND%20SRC:MED&resultType=core&format=json"; rdfs:comment "All Norwegians participating in censuses from 1960 to 2001 were included." . _:4ec62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:34650201"; "The role of family factors in the association between early adulthood BMI and risk of cardiovascular disease. An intergenerational study of BMI in early adulthood and cardiovascular mortality in parents, aunts and uncles."; "PMID:34650201", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7612210/fullTextXML"; rdfs:comment "Data from the Armed Forces Personnel Data Base (1985-2012) were linked with data from the Norwegian Population Registry, generational data from the Norwegian Family Based Life Course Study (NFLC), National Educational Registry and the Cause of Death Registry using the unique national personal identification numbers." . _:4ec72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A register-based cohort of everyone in Norway who took part in the national censuses from 1960 to 2001, in which family members are linked through personal identity numbers and household and family information from the 1960 census and further linked to health registers and surveys, for multigenerational life-course research in public health."; "PMID:22735991"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ec82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6272827; "individuals in the 1960-2001 censuses with a personal identity number"; "https://doi.org/10.1007/s00038-012-0379-4"; rdfs:comment "This comprises in all 6,272,827 individuals." . _:4ec92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NFLC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22517; , ; ; "PMID:40399555"; "A nationwide multicentre cohort of adults with confirmed SARS-CoV-2 infection, from asymptomatic to fatal, recruited from September 2020 into 2021 through nine recruitment centres in seven regions of Chile by a network of Chilean universities and health centres coordinated by the University of Chile's Biobank of Tissue and Fluids, with blood samples and clinical data banked for multi-omics studies of host genetics and COVID-19 severity, and recontacted for long COVID follow-up; the network behind it became the COVID-19 Genomics Network (C19-GenoNet)."; 2262; "C19-GenoNet", "COVID-19 Genomics Network", "Chilean COVID-19 Genomics Network Biorepository", "RED GENÓMICA COVID-19"; ; rdfs:label "Chilean COVID-19 Biorepository"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22517 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4eca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22517; "COVID-19"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11593408/fullTextXML"; rdfs:comment "Adults with confirmed SARS-CoV-2 infection provided broad informed consent." . _:4ecb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11593408/fullTextXML"; rdfs:comment "This paper reports the articulation of a network across Chile and the creation of the Chilean COVID-19 Biorepository, the first nationwide multicenter repository built under biobanking standards to ensure the high quality, reproducibility, and interoperability of samples and data as a resource for collaborative multi-omics research." . _:4ecc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40399555"; "Genome-wide association study of long COVID."; "PMID:40399555", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12165857/fullTextXML"; rdfs:comment "For the replication of the FOXP4 lead variants, we obtained data from the following nine additional studies: COVID-19 cohort at LGDB (LatviaGDB), COVID-19 Genomics Network (C19-GenoNet), COVID-19 Host Immune Response Pathogenesis Study (CHIRP), Estonian Biobank (EstBB), Fondazione Genomics SARS-CoV-2 Study (FoGS), GENCOV Study (GENCOV), Mass General Brigham Biobank (MGB), The Post-hospitalization COVID-19 study (PHOSP-COVID) and VA MVP." . _:4ecd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide multicentre cohort of adults with confirmed SARS-CoV-2 infection, from asymptomatic to fatal, recruited from September 2020 into 2021 through nine recruitment centres in seven regions of Chile by a network of Chilean universities and health centres coordinated by the University of Chile's Biobank of Tissue and Fluids, with blood samples and clinical data banked for multi-omics studies of host genetics and COVID-19 severity, and recontacted for long COVID follow-up; the network behind it became the COVID-19 Genomics Network (C19-GenoNet)."; " https://biobanco.uchile.cl/proyecto-c19-genonet-2/", "PMID:39596552 "; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ece2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2262; "adults with confirmed SARS-CoV-2 infection enrolled (2020-2021)"; "PMID:39596552"; rdfs:comment "In five months, 2262 participants were enrolled, pseudonymized, and sorted by disease severity." . _:4ecf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "C19-GenoNet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22524; , ; , ; "PMID:42167794"; "A population-based prospective cohort of women aged 50–64 years in the United Kingdom, recruited in 1996–2001 when invited to routine mammography by the National Health Service Breast Screening Programme at centres in England and Scotland and coordinated by the Cancer Epidemiology Unit of the University of Oxford, set up to study the effects of hormone replacement therapy on breast cancer and other outcomes and followed for the effects of many other factors on women's health as they age."; 1300000; ; rdfs:label "Million Women Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22524 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4ed02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22524; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13913/fullTextXML"; rdfs:comment "The main purpose of the Million Women Study is to examine the relationship between breast cancer and use of HRT, in a context where use of hormonal therapy is recorded as reliably as possible and breast cancers are diagnosed as uniformly and consistently as possible." . _:4ed12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13913/fullTextXML"; rdfs:comment "Women are asked to join the Million Women Study when they are invited to routine screening for breast cancer at 61 of the screening centres of the UK National Health Service Breast Screening Programme (NHSBSP)." . _:4ed22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42167794"; "Risk factors for multimorbidity of cardiovascular diseases in the prospective Million Women Study."; "PMID:42167794", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13202100/fullTextXML"; rdfs:comment "The Million Women Study is a population-based cohort study of 1.3 million UK women." . _:4ed32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of women aged 50–64 years in the United Kingdom, recruited in 1996–2001 when invited to routine mammography by the National Health Service Breast Screening Programme at centres in England and Scotland and coordinated by the Cancer Epidemiology Unit of the University of Oxford, set up to study the effects of hormone replacement therapy on breast cancer and other outcomes and followed for the effects of many other factors on women's health as they age."; "PMID:11056681", "https://www.ceu.ox.ac.uk/research/the-million-women-study"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ed42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1300000; "women aged 50-64 recruited 1996-2001 (rounded figure as stated)"; "PMID:42167794"; rdfs:comment "1.3 million women aged 50–64 years were recruited into the Million Women Study in 1996–2001." . a owl:NamedIndividual, ; , ; ; "PMID:33194979"; "A population-based biobank of Saudi nationals aged 10 years and over, recruited since 2017 by the Saudi Biobank Center of King Abdullah International Medical Research Center in Riyadh, in person at Ministry of National Guard Health Affairs hospitals and clinics and at community sites such as blood donation centres, with questionnaires, biological samples and linked electronic health records, to support genetic and epidemiological research on common and rare diseases in Saudi Arabia."; 60000; "National Saudi Biobank", "SBB", "SNB", "Saudi National Biobank"; ; rdfs:label "Saudi Biobank"@en . _:4ed52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.biobanking.org/biobanks/view/462"; rdfs:comment "The Saudi Biobank is one of the important medical research projects in the Kingdom of Saudi Arabia to study the impact of a healthy lifestyle, genes and the environment in the Saudi population." . _:4ed62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33194979"; "Predictors of Seatbelt Use Among Saudi Adults: Results From the National Biobank Project."; "PMID:33194979", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7649265/fullTextXML"; rdfs:comment "This cross-sectional study was performed using data from the Saudi National Biobank (SNB)." . _:4ed72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based biobank of Saudi nationals aged 10 years and over, recruited since 2017 by the Saudi Biobank Center of King Abdullah International Medical Research Center in Riyadh, in person at Ministry of National Guard Health Affairs hospitals and clinics and at community sites such as blood donation centres, with questionnaires, biological samples and linked electronic health records, to support genetic and epidemiological research on common and rare diseases in Saudi Arabia."; "PMID:33194979", "PMID:41721974", "https://www.biobanking.org/biobanks/view/462"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ed82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60000; "participants enrolled to date (lower bound, 'more than 60,000'), recruitment ongoing (2026)"; "PMID:41721974"; rdfs:comment "With more than 60,000 participants enrolled to date—and a target of 200,000 participants—the Biobank integrates rich datasets, including EHRs, self-reported information, and diverse biospecimens [3]." . _:4ed92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SBB"; . _:4eda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SNB"; . _:4edb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Saudi National Biobank"; . a owl:NamedIndividual, ; , ; ; "PMID:42467699"; "An ongoing nationwide population-based prospective cohort of adults aged 35–70 years living in 18 regions of Iran chosen to cover its ethnic, environmental and socioeconomic diversity, enrolled since 2014 through a network of Iranian medical universities coordinated by the Digestive Diseases Research Institute of Tehran University of Medical Sciences, with a biobank, to study environmental, lifestyle and genetic determinants of non-communicable diseases."; 170564; "PERSIAN", "PERSIAN Cohort", "PERSIAN Cohort Study", "PERSIAN cohort study", "Prospective Epidemiological Research Studies in IrAN"; ; rdfs:label "Prospective Epidemiological Research Studies in Iran"@en; rdfs:seeAlso . _:4edc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12645788/fullTextXML"; rdfs:comment "The adult cohort includes Iranian residents aged 35–70 from 18 diverse regions, capturing the country’s ethnic, environmental, and socioeconomic diversity." . _:4edd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42467699"; "Epidemiology and determinants of dyslipidemia in Iranian population: Results from the PERSIAN cohort."; "PMID:42467699", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13379098/fullTextXML"; rdfs:comment "The current study used the data of a very large cross-sectional survey, Prospective Epidemiological Research Studies in IrAN (PERSIAN), including 163,770 Iranians aged 35–70 years from 18 distinct areas across Iran, between 2014 and 2020." . _:4ede2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An ongoing nationwide population-based prospective cohort of adults aged 35–70 years living in 18 regions of Iran chosen to cover its ethnic, environmental and socioeconomic diversity, enrolled since 2014 through a network of Iranian medical universities coordinated by the Digestive Diseases Research Institute of Tehran University of Medical Sciences, with a biobank, to study environmental, lifestyle and genetic determinants of non-communicable diseases."; "PMID:41286709", "https://persiancohort.com/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4edf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 170564; "adults aged 35-70 enrolled at baseline across 18 districts, 2014-2020"; "PMID:41286709"; rdfs:comment "Between 2014 and 2020, the PERSIAN Cohort enrolled 170,564 adults across 18 study districts." . _:4ee02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PERSIAN"; . _:4ee12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PERSIAN Cohort Study"; . a owl:NamedIndividual, ; , ; ; "PMID:42005644"; "A whole-population birth and parent cohort open to all children born in the state of Victoria, Australia, between October 2021 and October 2023 and their parents, recruited from December 2020 (an Advance Cohort, then newborns at Victorian maternity services and later remote and ongoing enrolment) and led from the Murdoch Children's Research Institute, which combines linked administrative and clinical data, biosamples and phenotypic waves as a platform for discovery and intervention research on child and adult health."; 123516; "GenV", "Generation Victoria (GenV)"; ; rdfs:label "Generation Victoria"@en; rdfs:seeAlso . _:4ee22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13016905/fullTextXML"; rdfs:comment "All children living in Victoria, Australia, born between 4 October 2021 and 3 October 2023 and their parents/guardians are eligible for GenV’s ‘Cohort 2020s’." . _:4ee32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:42005644"; "Measuring Environmental Noise for Babies in Special Care Nurseries and Neonatal Intensive Care Units on a Large Scale: Research Methods."; "PMID:42005644", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13087638/fullTextXML"; rdfs:comment "For our current study—Generation Victoria (GenV) [18], the ethical approval is in place (Royal Children's Hospital Human Research Ethics Committee (HREC)‐2019/11), including consent to access clinical data." . _:4ee42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A whole-population birth and parent cohort open to all children born in the state of Victoria, Australia, between October 2021 and October 2023 and their parents, recruited from December 2020 (an Advance Cohort, then newborns at Victorian maternity services and later remote and ongoing enrolment) and led from the Murdoch Children's Research Institute, which combines linked administrative and clinical data, biosamples and phenotypic waves as a platform for discovery and intervention research on child and adult health."; "PMID:39754130", "PMID:41844214"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4ee52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 123516; "children and parents/guardians enrolled (Cohort 2020s plus Advance Cohort), 2020-2023"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13016905/"; rdfs:comment "A further 5833 children and 9122 parents/guardians were recruited to the Advance Cohort, bringing the total participants enrolled to 123 516 (49 686 children, 73 830 parents/guardians)." . _:4ee62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GenV"; . _:4ee72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Generation Victoria (GenV)"; . a owl:NamedIndividual, ; , , , , , ; ; "PMID:38071311"; "A population-based study of adults aged 18 years and over of South Asian ethnicity, recruited from 2018 at non-communicable disease surveillance sites centred on primary community health care units in Bangladesh, India, Pakistan and Sri Lanka by a partnership of centres in those countries and the United Kingdom led from Imperial College London, with standardised health assessments, environmental mapping and biological samples, to identify the genetic and environmental causes of type 2 diabetes, cardiovascular and other non-communicable diseases in South Asians."; 149051; "SAB", "South Asia Biobank Study"; ; rdfs:label "South Asia Biobank"@en . _:4ee82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8271208/fullTextXML"; rdfs:comment "SAB is a cross-sectional population-based study that recruited participants from 118 surveillance sites that were centred on local primary community health care units in five study regions: Bangladesh, South India, North India, Pakistan and Sri Lanka." . _:4ee92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38071311"; "Smokeless and combustible tobacco use among 148,944 South Asian adults: a cross-sectional study of South Asia Biobank."; "PMID:38071311", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10709928/fullTextXML"; rdfs:comment "Using large-scale population data from the South Asia Biobank (SAB) Study, comprising 148,944 male and female adults from Bangladesh, India, Pakistan, and Sri Lanka, we aimed to (1) describe patterns of SLT and combustible tobacco product use stratified by country and sex, and (2) assess the associations of SLT with attempts to quit smoking, smoking cessation, and smoking intensity among men." . _:4eea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based study of adults aged 18 years and over of South Asian ethnicity, recruited from 2018 at non-communicable disease surveillance sites centred on primary community health care units in Bangladesh, India, Pakistan and Sri Lanka by a partnership of centres in those countries and the United Kingdom led from Imperial College London, with standardised health assessments, environmental mapping and biological samples, to identify the genetic and environmental causes of type 2 diabetes, cardiovascular and other non-communicable diseases in South Asians."; "PMID:34143882"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4eeb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 149051; "adults whose data were collected 2018-2022 (as used by the example study)"; "PMID:38071311"; rdfs:comment "The data from 149,051 adults ages 18 years and above used for the present study were collected between 2018 and 2022." . _:4eec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAB"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22554, _:genid-371333f489424440b12a13b9d98ced822608-genid22556; , , , , , , , , , , , , , , , , , , ; , ; ; "PMID:38506636"; "A platform established by the UK Medical Research Council to accelerate the development of new treatments for dementia, run from the University of Oxford, whose Data Portal, launched in 2017, brings together data from independent population and clinical cohorts, most of them in the United Kingdom, in a shared remote-access environment for collaborative and multi-cohort research on dementia and neurodegeneration."; 3370929; "DPUK", "DPUK Data Portal", "Dementias Platform UK Data Portal"; ; rdfs:label "Dementias Platform UK"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22554 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22556 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4eed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22554; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11095482/fullTextXML"; rdfs:comment "Dementias Platform UK (DPUK; https://www.dementiasplatform.uk/) brings together a wide range of cohorts in the DPUK Data Portal to facilitate collaborative research opportunities and answer important questions about dementia." . _:4eee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22556; "neurodegenerative diseases"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11095482/fullTextXML"; rdfs:comment "Dementias Platform UK (DPUK; https://www.dementiasplatform.uk/) brings together a wide range of cohorts in the DPUK Data Portal to facilitate collaborative research opportunities and answer important questions about dementia." . _:4eef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "ALSPAC Children [38]" . _:4ef02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "EPIC Norfolk [44]" . _:4ef12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "NICOLA [48]" . _:4ef22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "ELSA [24]" . _:4ef32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "UK Biobank [54]" . _:4ef42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "DIAN [43]" . _:4ef52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "SABRE [53]" . _:4ef62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "Generation Scotland [27]" . _:4ef72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "Airwave [15]" . _:4ef82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "LBC1936 [46]" . _:4ef92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "Memento [30]" . _:4efa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "OPDC Discovery [32]" . _:4efb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "NSHD [49]" . _:4efc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "CamPaIGN [18]" . _:4efd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "BDR [40]" . _:4efe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "CaPS [19]" . _:4eff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "EXTEND [26]" . _:4f002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "PICNICS [33]" . _:4f012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7320955/fullTextXML"; rdfs:comment "Million Women [47]" . _:4f022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:38506636"; "Dementias Platform UK: Bringing genetics into life."; "PMID:38506636", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11095482/fullTextXML"; rdfs:comment "For this project we used DPUK cohorts that agreed to participate in sharing the individual‐level genotype data with the main aim of merging and processing the datasets together." . _:4f032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A platform established by the UK Medical Research Council to accelerate the development of new treatments for dementia, run from the University of Oxford, whose Data Portal, launched in 2017, brings together data from independent population and clinical cohorts, most of them in the United Kingdom, in a shared remote-access environment for collaborative and multi-cohort research on dementia and neurodegeneration."; "PMID:32328990", "PMID:38506636"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3370929; "individuals across the 42 cohorts of the DPUK Data Portal (2020)"; "PMID:32328990"; rdfs:comment "The Dementias Platform UK Data Portal is a data repository facilitating access to data for 3 370 929 individuals in 42 cohorts." . _:4f052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DPUK"; . a owl:NamedIndividual, ; , , ; ; "PMID:40018598"; "A health and demographic surveillance system following the largely rural population of villages in the Iganga and Mayuge districts of eastern Uganda, established in the mid-2000s by Makerere University with the two districts and Karolinska Institutet and run by the Makerere University Centre for Health and Population Research, which records pregnancies, births, deaths and other events in census rounds and links household data with health facility records, as a platform for population health research and research training."; 95000; "IM-HDSS", "IMHDSS", "IMHDSS, Uganda", "Iganga Mayuge HDSS", "Iganga Mayuge HDSS, Makerere University Centre for Health and Population Research (MUCHAP)", "Iganga-Mayuge HDSS", "Iganga-Mayuge Health and Demographic Surveillance Sites", "Iganga-Mayuge health and demographic surveillance site"; ; rdfs:label "Iganga-Mayuge Health and Demographic Surveillance Site"@en; rdfs:seeAlso . _:4f062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9012358/fullTextXML"; rdfs:comment "IM-HDSS is in Eastern Uganda and covers the districts of Iganga and Mayuge managed by the Makerere University Centre for health and population research (MUCHAP)." . _:4f072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40018598"; "Understanding the demographic and socioeconomic determinants of morbidity in Eastern Uganda: a retrospective analysis of the Iganga-Mayuge health and demographic surveillance data."; "PMID:40018598", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11816860/fullTextXML"; rdfs:comment "The study was conducted within the population cohort of Iganga-Mayuge Health and Demographic Surveillance Sites (IMHDSS) located in eastern Uganda." . _:4f082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A health and demographic surveillance system following the largely rural population of villages in the Iganga and Mayuge districts of eastern Uganda, established in the mid-2000s by Makerere University with the two districts and Karolinska Institutet and run by the Makerere University Centre for Health and Population Research, which records pregnancies, births, deaths and other events in census rounds and links household data with health facility records, as a platform for population health research and research training."; "PMID:28799450", "PMID:35427403", "PMID:40018598"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 95000; "population under surveillance (rounded)"; "PMID:40018598"; rdfs:comment "The IMHDSS cohort covers a catchment area of 155 km2 with a population of 95 000 individuals and is served by 23 health facilities." . _:4f0a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IM-HDSS"; . _:4f0b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMHDSS"; . _:4f0c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iganga Mayuge HDSS"; . _:4f0d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iganga Mayuge HDSS, Makerere University Centre for Health and Population Research (MUCHAP)"; . _:4f0e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Iganga-Mayuge HDSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22590, _:genid-371333f489424440b12a13b9d98ced822608-genid22592; , ; ; ; "PMID:40879407"; "A sub-study of the fourth wave (HUNT4, 2017–2019) of the Trøndelag Health Study in which all inhabitants aged 70 years and older in the northern Trøndelag region of Norway were invited to detailed assessments of cognition and health, used to study the prevalence and incidence of dementia and mild cognitive impairment."; 9956; "HUNT 70+", "HUNT 70+ study", "HUNT 70+, The HUNT Study", "HUNT4 70+ study"; ; rdfs:label "HUNT4 70+"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22590 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22592 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f0f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22590; "dementia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12678644/fullTextXML"; rdfs:comment "Participants from the HUNT4 70+ sub-study were re-evaluated four years later, which offers a unique opportunity to investigate the incidence of dementia and progression from MCI to dementia within this representative cohort." . _:4f102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22592; "mild cognitive impairment"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12678644/fullTextXML"; rdfs:comment "Participants from the HUNT4 70+ sub-study were re-evaluated four years later, which offers a unique opportunity to investigate the incidence of dementia and progression from MCI to dementia within this representative cohort." . _:4f112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12678644/fullTextXML"; rdfs:comment "A longitudinal cohort design was used, with baseline assessment in the Norwegian HUNT4 70+ study (2017–19) and at follow-up four years later (2021–23)." . _:4f122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12678644/fullTextXML"; rdfs:comment "The fourth wave of the study, referred to as HUNT4, was conducted from 2017 to 2019. Within this wave, a sub-study, HUNT4 70+, focused on individuals aged 70 and older." . _:4f132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40879407"; "Incidence of dementia among individuals 70 years and older in Norway: A HUNT study."; "PMID:40879407", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12678644/fullTextXML"; rdfs:comment "In HUNT4 70+, all inhabitants aged 70+ were invited (N = 19,403), with 9956 (51.3%) participating (Figure 1)." . _:4f142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A sub-study of the fourth wave (HUNT4, 2017–2019) of the Trøndelag Health Study in which all inhabitants aged 70 years and older in the northern Trøndelag region of Norway were invited to detailed assessments of cognition and health, used to study the prevalence and incidence of dementia and mild cognitive impairment."; "PMID:40879407"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9956; "inhabitants aged 70+ who took part in HUNT4 70+ (2017-2019)"; "PMID:40879407"; rdfs:comment "In HUNT4 70+, all inhabitants aged 70+ were invited (N = 19,403), with 9956 (51.3%) participating (Figure 1)." . _:4f162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUNT 70+"; . _:4f172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HUNT 70+, The HUNT Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22601; , ; "PMID:35922517"; "A cohort of volunteers recruited online from 2020 by the MRC Human Genetics Unit at the University of Edinburgh who shared genotype data from direct-to-consumer genetic testing services and completed questionnaires on their health, lifestyle and COVID-19 symptoms, to identify genes that influence the risk and severity of COVID-19."; "Coronagenes study", "Coronagenes/University of Edinburgh"; ; rdfs:label "Coronagenes"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22601 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22601; "COVID-19"; "http://web.archive.org/web/20241104022517/https://www.ed.ac.uk/coronagenes/about/coronagenes-study"; rdfs:comment "We plan to look for genes influencing the risk of catching severe acute respiratory syndrome coronavirus 2 SARS-CoV-2 and developing COVID-19." . _:4f192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35922517"; "A first update on mapping the human genetic architecture of COVID-19."; "PMID:35922517", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9352569/supplementaryFiles"; rdfs:comment "Coronagenes Cases and Controls 58.42 years West Midlands Research Ethics Commitee Individuals uploaded raw genotype information from direct-to-consumer DNA genotyping companies, including 23andMe, Ancestry, MyHeritage, and FTDNA." . _:4f1a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of volunteers recruited online from 2020 by the MRC Human Genetics Unit at the University of Edinburgh who shared genotype data from direct-to-consumer genetic testing services and completed questionnaires on their health, lifestyle and COVID-19 symptoms, to identify genes that influence the risk and severity of COVID-19."; "http://web.archive.org/web/20241104022517/https://www.ed.ac.uk/coronagenes/about/coronagenes-study", "https://institute-genetics-cancer.ed.ac.uk/news-and-events/news-2020/home-dna-test-data-wanted-boost-coronavirus-fight"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f1b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Coronagenes/University of Edinburgh"; . a owl:NamedIndividual, ; , ; ; "PMID:37533684"; "A multidisciplinary population-based prospective cohort of men and women aged 19 to 74 years drawn at random from the general population and examined between 2014 and 2019 at 18 study centres across Germany, with interviews, questionnaires, biomedical examinations, biosamples and whole-body magnetic resonance imaging in a subsample, followed up by questionnaires, record linkage and re-examination, to investigate the causes, early detection and prevention of common chronic and infectious diseases."; 205415; "GNC", "German National Cohort (NAKO)", "German National Cohort health study", "NAKO", "NAKO Gesundheitsstudie", "NAKO Health Study"; ; rdfs:label "German National Cohort"@en; rdfs:seeAlso . _:4f1c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9581448/fullTextXML"; rdfs:comment "Between 2014 and 2019, a total of 205,415 men and women aged 19–74 years were recruited and examined in 18 study centres in Germany." . _:4f1d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37533684"; "Associations of Migration, Socioeconomic Position and Social Relations With Depressive Symptoms - Analyses of the German National Cohort Baseline Data."; "PMID:37533684", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:37533684%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "The German National Cohort health study (NAKO) is a prospective multicenter cohort study (N = 204,878)." . _:4f1e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A multidisciplinary population-based prospective cohort of men and women aged 19 to 74 years drawn at random from the general population and examined between 2014 and 2019 at 18 study centres across Germany, with interviews, questionnaires, biomedical examinations, biosamples and whole-body magnetic resonance imaging in a subsample, followed up by questionnaires, record linkage and re-examination, to investigate the causes, early detection and prevention of common chronic and infectious diseases."; "PMID:36260190"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f1f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 205415; "men and women aged 19-74 recruited and examined at baseline, 2014-2019"; "PMID:36260190"; rdfs:comment "Between 2014 and 2019, a total of 205,415 men and women aged 19–74 years were recruited and examined in 18 study centres in Germany." . _:4f202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GNC"; . _:4f212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "German National Cohort (NAKO)"; . _:4f222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NAKO"; . a owl:NamedIndividual, ; , , ; ; "PMID:29462329"; "A nationwide population-based prospective cohort of multi-ethnic Malaysian adults aged 35 to 70 years, recruited from 2006 to 2012 by the UKM Medical Molecular Biology Institute of the National University of Malaysia and followed up by periodic re-surveys, telephone follow-up and registry linkage, to study the causes of non-communicable diseases."; 106527; "Malaysian Cohort", "TMC", "The Malaysian Cohort Study", "The Malaysian Cohort project"; ; rdfs:label "The Malaysian Cohort"@en; rdfs:seeAlso . _:4f232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6104700/fullTextXML"; rdfs:comment "TMC is a nationwide prospective cohort project, which recruited approximately 100 000 Malaysians aged between 35 and 70 y at baseline." . _:4f242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29462329"; "Association of job sectors with type 2 diabetes mellitus, hypercholesterolemia and obesity: a cross-sectional study from the Malaysian Cohort (TMC) project."; "PMID:29462329", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6104700/fullTextXML"; rdfs:comment "A baseline cross-sectional analysis of the Malaysian Cohort was conducted, which included 105 391 adults." . _:4f252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide population-based prospective cohort of multi-ethnic Malaysian adults aged 35 to 70 years, recruited from 2006 to 2012 by the UKM Medical Molecular Biology Institute of the National University of Malaysia and followed up by periodic re-surveys, telephone follow-up and registry linkage, to study the causes of non-communicable diseases."; "PMID:29462329", "PMID:34299667"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 106527; "participants recruited 2006-2012"; "PMID:34299667"; rdfs:comment "The Malaysian Cohort (TMC) project is a large population-based cohort study that managed to recruit 106,527 participants over a period from the year 2006 until 2012 [23]." . _:4f272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TMC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22618; , , , ; ; "PMID:39150951"; "A prospective cohort of adults in the United States and Puerto Rico recruited by the American Cancer Society between 2006 and 2013, mainly at community events, who gave a blood sample and survey information and are followed through repeat surveys and linkage with cancer registries and the National Death Index, to study lifestyle, genetic and other causes of cancer and other outcomes."; 303682; "American Cancer Society Cancer Prevention Study-3", "American Cancer Society's Cancer Prevention Study 3", "CPS-3", "CPS3", "Cancer Prevention Study 3"; ; rdfs:label "Cancer Prevention Study-3"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22618 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22618; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11329134/fullTextXML"; rdfs:comment "The American Cancer Society Cancer Prevention Study-3 (CPS-3) is a prospective cohort study of over 300,000 US adults with the primary goal of investigating cancer incidence and mortality" . _:4f292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28171707%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "The American Cancer Society (ACS) recruited a new prospective cohort study, Cancer Prevention Study 3 (CPS-3), between 2006 and 2013 from 35 states and Puerto Rico." . _:4f2a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11329134/fullTextXML"; rdfs:comment "The American Cancer Society Cancer Prevention Study-3 (CPS-3) is a prospective cohort study of over 300,000 US adults with the primary goal of investigating cancer incidence and mortality" . _:4f2b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39150951"; "Validity of self-reported sleep duration in the Cancer Prevention Study- 3."; "PMID:39150951", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11329134/fullTextXML"; rdfs:comment "The CPS-3 Activity Validation Sub Study (AVSS) was conducted in 2015 to further investigate rest/activity cycles among a subset of CPS-3 study participants" . _:4f2c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of adults in the United States and Puerto Rico recruited by the American Cancer Society between 2006 and 2013, mainly at community events, who gave a blood sample and survey information and are followed through repeat surveys and linkage with cancer registries and the National Death Index, to study lifestyle, genetic and other causes of cancer and other outcomes."; "PMID:28171707"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f2d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 303682; "participants enrolled 2006-2013"; "PMID:28171707"; rdfs:comment "In total, 303,682 participants were enrolled." . _:4f2e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "American Cancer Society Cancer Prevention Study-3"; . _:4f2f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPS-3"; . _:4f302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CPS3"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22628, _:genid-371333f489424440b12a13b9d98ced822608-genid22630, _:genid-371333f489424440b12a13b9d98ced822608-genid22632, _:genid-371333f489424440b12a13b9d98ced822608-genid22634, _:genid-371333f489424440b12a13b9d98ced822608-genid22636, _:genid-371333f489424440b12a13b9d98ced822608-genid22638, _:genid-371333f489424440b12a13b9d98ced822608-genid22640; , ; ; "PMID:36383734"; "A cohort of demographically diverse adults recruited in North Carolina since 2002 by the National Institute of Environmental Health Sciences, first as the Environmental Polymorphisms Registry, who complete surveys on health, exposures, diet and lifestyle, give biological samples and are genotyped, with geocoded residential data, to study how environment, lifestyle and genes act together on disease."; 19445; "EPR", "Environmental Polymorphisms Registry", "PEGS", "Personalized Genes and Environment Study", "Personalized Genes and Environment Study/NIEHS"; ; rdfs:label "Personalized Environment and Genes Study"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22628 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22630 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22632 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22634 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22636 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22638 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22640 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22628; "ultraviolet light exposure"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22630; "chemical and environmental exposures at work and home", "chemical and metal exposures at work"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22632; "pesticides and insecticides"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22634; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22636; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22638; "residential proximity to multi-pollutant point sources"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22640; "environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "While most studies focus on a single disease or environmental exposure, PEGS collects data on multiple diseases and environmental exposures, including diet and lifestyle factors, in concert with genetic data." . _:4f382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13216552/fullTextXML"; rdfs:comment "PEGS participants are recruited in outpatient clinics and hospitals and at over 200 unique sites in North Carolina that include businesses, career fairs, universities, community events such as charity walks, health fairs and festivals, senior centers, sporting events, social clubs, religious institutions, and military bases." . _:4f392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36383734"; "Questionnaire-Based Polyexposure Assessment Outperforms Polygenic Scores for Classification of Type 2 Diabetes in a Multiancestry Cohort."; "PMID:36383734", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:36383734%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "We conducted an exposome-wide association study in the multiancestry Personalized Environment and Genes Study to assess the effects of environmental factors on type 2 diabetes." . _:4f3a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of demographically diverse adults recruited in North Carolina since 2002 by the National Institute of Environmental Health Sciences, first as the Environmental Polymorphisms Registry, who complete surveys on health, exposures, diet and lifestyle, give biological samples and are genotyped, with geocoded residential data, to study how environment, lifestyle and genes act together on disease."; "PMID:41927563"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f3b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 19445; "participants in PEGS Data Freeze 3.1 (2023)"; "PMID:41927563"; rdfs:comment "The PEGS cohort contains 19,445 demographically diverse participants who provided phenotype and exposure data by completing three surveys." . _:4f3c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EPR"; . _:4f3d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PEGS"; . _:4f3e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Personalized Genes and Environment Study/NIEHS"; . a owl:NamedIndividual, ; , ; ; "PMID:37117635"; "A general population cohort of adults in Newfoundland and Labrador, Canada, established by the company Sequence Bioinformatics (Sequence Bio) of St. John's and recruiting from 2019, whose participants, aged 18 and over with a valid provincial health card, were recruited at random from general practice clinics across the province and gave medical history and saliva samples for genotyping, to characterise the genetics of the province's founder population and find genetic causes of disease."; 2500; "NL Genome Project", "NLGP", "Sequence Bio"; ; rdfs:label "Newfoundland and Labrador Genome Project"@en; rdfs:seeAlso . _:4f3f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10147672/fullTextXML"; rdfs:comment "We have performed a systematic analysis of the European ancestry within the Canadian province of NL." . _:4f402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37117635"; "The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago."; "PMID:37117635", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10147672/fullTextXML"; rdfs:comment "we aimed to explore the non-Indigenous (European) settlement of the present NL population in unprecedented detail, studying a sample of 1807 individuals with NL ancestry from the Newfoundland and Labrador Genome Project (NLGP), together with ancestry source references from Britain and Ireland." . _:4f412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A general population cohort of adults in Newfoundland and Labrador, Canada, established by the company Sequence Bioinformatics (Sequence Bio) of St. John's and recruiting from 2019, whose participants, aged 18 and over with a valid provincial health card, were recruited at random from general practice clinics across the province and gave medical history and saliva samples for genotyping, to characterise the genetics of the province's founder population and find genetic causes of disease."; "PMID:37117635", "https://atlas.ihccglobal.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2500; "initial participants with medical history and saliva samples, as analysed in the 2023 paper"; "PMID:37117635"; rdfs:comment "The NLGP cohort consists of the initial 2,500 participants for whom medical history and saliva samples were obtained with informed consent under a study protocol approved by the Newfoundland and Labrador Health Research Ethics Board (Ethics Reference #: 2018.243)." . _:4f432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NLGP"; . _:4f442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Sequence Bio"; . a owl:NamedIndividual, ; , ; ; "PGS000068", "PMID:40067807"; "A cohort of postmenopausal women aged 50–74 from the general population of England, Wales and Northern Ireland, recruited in 2001–2005 to the United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS), a randomised trial of ovarian cancer screening, whose donated serum samples (at recruitment and, in the multimodal screening arm, annually until 2011) and linked national health records are kept by the MRC Clinical Trials Unit at University College London as an open bioresource for studies of common diseases and disease markers."; 202280; "UK Collaborative Trial of Ovarian Cancer Screening", "UKCTOCS", "UKCTOCS Longitudinal Women's Cohort (UKLWC)", "UKLWC", "United Kingdom Collaborative Trial of Ovarian Cancer Screening"; , ; rdfs:label "UKCTOCS Longitudinal Women's Cohort"@en; rdfs:seeAlso . _:4f452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11896025/fullTextXML"; rdfs:comment "In this trial 202,638 postmenopausal women aged 50 and above were recruited through thirteen UK centres between 2001 and 2005." . _:4f462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000068"; "Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study."; "PMID:29730597" . _:4f472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40067807"; "Lung cancer associated autoantibody responses are detectable years before clinical presentation."; "PMID:40067807", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11896025/fullTextXML"; rdfs:comment "Using a longitudinal cohort from the United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) study, we have established that elevated autoantibodies can be detected an average of four years in advance of clinical presentation, and in some cases up to 8 years prior to clinical presentation." . _:4f482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of postmenopausal women aged 50–74 from the general population of England, Wales and Northern Ireland, recruited in 2001–2005 to the United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS), a randomised trial of ovarian cancer screening, whose donated serum samples (at recruitment and, in the multimodal screening arm, annually until 2011) and linked national health records are kept by the MRC Clinical Trials Unit at University College London as an open bioresource for studies of common diseases and disease markers."; "https://uklwc.mrcctu.ucl.ac.uk/overview", "https://www.innovative-ctu.ucl.ac.uk/studies/all-studies/u/uklwc/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 202280; "postmenopausal women who joined UKCTOCS (2005)"; "https://uklwc.mrcctu.ucl.ac.uk/overview"; rdfs:comment "UKCTOCS Longitudinal Women’s Cohort (UKLWC) includes the 202,280 postmenopausal women from the general population who joined the United Kingdom Collaborative Trial of Ovarian Cancer Screening" . _:4f4a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKCTOCS"; . _:4f4b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKCTOCS Longitudinal Women's Cohort (UKLWC)"; . _:4f4c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "UKLWC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22663; , , ; ; "PMID:41781022"; "A population cohort of the residents of a defined area around Kilifi on the Indian Ocean coast of Kenya, established in 2000 by the KEMRI-Wellcome Trust Research Programme with a census and followed by regular household visits recording births, pregnancies, migrations and deaths, with residents' admissions to Kilifi District Hospital linked to the population register, to measure the incidence of local diseases, evaluate community interventions against infectious diseases and provide a sampling frame for epidemiological studies."; 261919; "KEMRI-Wellcome", "KHDSS"; ; rdfs:label "Kilifi Health and Demographic Surveillance System"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22663 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f4d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22663; "infectious disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3396317/fullTextXML"; rdfs:comment "The focus of research work has been on the incidence of infectious diseases in children, defining risk factors including genetic risks, and interventions to prevent infectious diseases—particularly vaccines." . _:4f4e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3396317/fullTextXML"; rdfs:comment "The Kilifi Health and Demographic Surveillance System (KHDSS), located on the Indian Ocean coast of Kenya, was established in 2000 as a record of births, pregnancies, migration events and deaths and is maintained by 4-monthly household visits." . _:4f4f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41781022"; "Prevalence, spatial and temporal distribution of tungiasis in the Kilifi Health and Demographic Surveillance System (KHDSS) in Kenya."; "PMID:41781022", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:41781022%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "We leveraged the Kilifi Health and Demographic Surveillance System of 90 257 households and asked whether they had a case of tungiasis in the household at interview during three survey rounds of routine surveys, undertaken between May 2021 and May 2022." . _:4f502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population cohort of the residents of a defined area around Kilifi on the Indian Ocean coast of Kenya, established in 2000 by the KEMRI-Wellcome Trust Research Programme with a census and followed by regular household visits recording births, pregnancies, migrations and deaths, with residents' admissions to Kilifi District Hospital linked to the population register, to measure the incidence of local diseases, evaluate community interventions against infectious diseases and provide a sampling frame for epidemiological studies."; "PMID:22544844"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 261919; "residents under surveillance in March 2011"; "PMID:22544844"; rdfs:comment "In March 2011, there were 29 970 households with 261 919 residents under surveillance; 49% of these were aged <15 years and 18% were aged <5 years (Figure 2)." . _:4f522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KEMRI-Wellcome"; . _:4f532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "KHDSS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22671, _:genid-371333f489424440b12a13b9d98ced822608-genid22673; , ; , , , ; ; "MTBLS136", "PMID:33803340"; "A subset of the Cancer Prevention Study II participants, men and women living in 21 US states, enrolled by the American Cancer Society through a mailed questionnaire in 1992–1993 and followed by biennial questionnaires, medical records and registry linkage for incident cancer and death, with blood samples from a subgroup, to study diet and other lifestyle factors and exposures in relation to cancer risk, mortality and survival."; 184194; "American Cancer Society Cancer Prevention Study II Nutrition Cohort", "CPS-II Nutrition Cohort", "Cancer Prevention II Nutrition Cohort", "Cancer Prevention Study-II Nutrition Cohort"; , ; rdfs:label "Cancer Prevention Study II Nutrition Cohort"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22671 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22673 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22671; "diet and other lifestyle factors and exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12015775+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Cancer Prevention Study II Nutrition Cohort was established in 1992 and was designed to investigate the relation between diet and other lifestyle factors and exposures and the risk of cancer, mortality, and survival." . _:4f552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22673; "cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A12015775+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Cancer Prevention Study II Nutrition Cohort was established in 1992 and was designed to investigate the relation between diet and other lifestyle factors and exposures and the risk of cancer, mortality, and survival." . _:4f562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8000483/fullTextXML"; rdfs:comment "Men and women in this study were participants in the CPS-II Nutrition Cohort, a subset of 1.2 million participants in the CPS-II Cohort (1982), who resided in 21 U.S. states when they were invited to enroll in the CPS-II Nutrition Cohort of incident cancer follow-up, beginning in 1992–1993" . _:4f572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8000483/fullTextXML"; rdfs:comment "Men and women in this study were participants in the CPS-II Nutrition Cohort, a subset of 1.2 million participants in the CPS-II Cohort (1982), who resided in 21 U.S. states when they were invited to enroll in the CPS-II Nutrition Cohort of incident cancer follow-up, beginning in 1992–1993" . _:4f582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS136"; "Serum metabolomic profiles associated with postmenopausal hormone use."; "PMID:30830410", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS136"; rdfs:comment "Untargeted metabolomics analysis was carried out on serum from 1,336 women enrolled in the Cancer Prevention II Nutrition Cohort." . _:4f592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33803340"; "Pre-Diagnostic Circulating Metabolites and Colorectal Cancer Risk in the Cancer Prevention Study-II Nutrition Cohort."; "PMID:33803340", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8000483/fullTextXML"; rdfs:comment "Men and women in this study were participants in the CPS-II Nutrition Cohort, a subset of 1.2 million participants in the CPS-II Cohort (1982), who resided in 21 U.S. states when they were invited to enroll in the CPS-II Nutrition Cohort of incident cancer follow-up, beginning in 1992–1993" . _:4f5a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A subset of the Cancer Prevention Study II participants, men and women living in 21 US states, enrolled by the American Cancer Society through a mailed questionnaire in 1992–1993 and followed by biennial questionnaires, medical records and registry linkage for incident cancer and death, with blood samples from a subgroup, to study diet and other lifestyle factors and exposures in relation to cancer risk, mortality and survival."; "PMID:12015775", "PMID:33803340"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f5b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 184194; "CPS-II participants aged 50-74 recruited to the Nutrition Cohort 1992-1993"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10718084/fullTextXML"; rdfs:comment "During the period 1992–1993, 184,194 CPS-II participants 50–74 y of age who resided in 21 states were recruited for participation in the CPS-II Nutrition Cohort." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22681, _:genid-371333f489424440b12a13b9d98ced822608-genid22683, _:genid-371333f489424440b12a13b9d98ced822608-genid22685, _:genid-371333f489424440b12a13b9d98ced822608-genid22687, _:genid-371333f489424440b12a13b9d98ced822608-genid22689, _:genid-371333f489424440b12a13b9d98ced822608-genid22691, _:genid-371333f489424440b12a13b9d98ced822608-genid22693; , , , ; , , , ; ; "PMID:40914105"; "A collaborative cohort study funded in 2016 by the US National Institutes of Health within the Environmental influences on Child Health Outcomes (ECHO) Program, bringing together existing and new pregnancy and paediatric cohorts across the United States and Puerto Rico under a common data collection protocol to study how early-life environmental exposures affect pre-, peri- and postnatal outcomes, airway health, obesity, neurodevelopment and positive health in children."; 60553; "ECHO", "ECHO Cohort", "ECHO Cohort Study", "ECHO-Wide Cohort Study", "EWC", "Environmental Influences on Child Health Outcomes-Wide Cohort Study", "Environmental influences on Child Health Outcomes (ECHO) Cohort", "Environmental influences on Child Health Outcomes-wide Cohort"; ; rdfs:label "Environmental influences on Child Health Outcomes Cohort"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22681 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22683 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22685 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22687 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22689 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22691 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22693 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f5c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22681; "chemicals"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f5d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22683; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f5e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22685; "physical activity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f5f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22687; "drinking water source"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22689; "air pollution"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22691; "phthalates"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22693; "early-life environmental exposures"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The goal of the ECHO Program is to understand how the environment, from preconception through early childhood, influences child health and development to identify opportunities to mitigate the risk of disease and optimize health and thriving (4)." . _:4f632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/supplementaryFiles"; rdfs:comment "Extremely Low Gestational Age Newborn (ELGAN)50 Perinatal Clinic/hospital- based Preterm Extremely preterm children without anencephaly" . _:4f642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/supplementaryFiles"; rdfs:comment "Project Viva49 Prenatal Clinic/hospital- based General population Pregnant women with singletons" . _:4f652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/supplementaryFiles"; rdfs:comment "Children’s Health Study (CHS)26 Early childhood; Middle childhood School-based General population Children" . _:4f662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/supplementaryFiles"; rdfs:comment "New Hampshire Birth Cohort Study (NHBCS)30-33 Prenatal Prenatal clinic- based General population Rural pregnant women with singletons" . _:4f672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10403303/fullTextXML"; rdfs:comment "The EWC enrolls pregnant people and children across the United States and Puerto Rico." . _:4f682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40914105"; "Prenatal exposure to per- and polyfluoroalkyl substances: Association with child behavior in the environmental influences on child health outcomes (ECHO) Cohort."; "PMID:40914105", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:40914105%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "We pooled data from nine study sites in the nationwide Environmental influences on Child Health Outcomes (ECHO) Cohort." . _:4f692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collaborative cohort study funded in 2016 by the US National Institutes of Health within the Environmental influences on Child Health Outcomes (ECHO) Program, bringing together existing and new pregnancy and paediatric cohorts across the United States and Puerto Rico under a common data collection protocol to study how early-life environmental exposures affect pre-, peri- and postnatal outcomes, airway health, obesity, neurodevelopment and positive health in children."; "PMID:36963379", "https://echochildren.org/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f6a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 60553; "children contributing data from the ECHO cohorts, as of the March 2022 data lock"; "PMID:36963379"; rdfs:comment "As of March 4, 2022, the EWC cohorts contributed data from 60,553 children and consented 29,622 children for new EWCP data and biospecimen collection." . _:4f6b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ECHO"; . _:4f6c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EWC"; . _:4f6d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Environmental influences on Child Health Outcomes (ECHO) Cohort"; . a owl:NamedIndividual, ; , , ; ; "PMID:41047337"; "A population-based prospective cohort of residents aged 40 to 74 years of 16 municipalities in seven prefectural areas of Japan, enrolled from 2011 to 2016 through a central office at the National Cancer Center and regional public health centres and universities as the successor to the Japan Public Health Center-based Prospective Study, with questionnaires and blood and urine samples, to identify risk factors for lifestyle-related diseases and factors that extend healthy life expectancy."; 115385; "JPHC (Japan Public Health Center-based Prospective) Study and JPHC-NEXT Study", "JPHC Study for the Next Generation", "JPHC-NEXT", "JPHC-NEXT Study"; ; rdfs:label "Japan Public Health Center-based Prospective Study for the Next Generation"@en; rdfs:seeAlso . _:4f6e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6908844/fullTextXML"; rdfs:comment "The JPHC-NEXT is being conducted under a population-based cohort design in 16 municipalities of seven prefectural areas across Japan" . _:4f6f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41047337"; "Association Between Women's Birth Weight and Reproductive Characteristics in Adulthood: The JPHC-NEXT Study."; "PMID:41047337", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:41047337%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "We used data from the Japan Public Health Center-based Prospective Study for the Next Generation (JPHC-NEXT), a population-based cohort in Japan." . _:4f702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort of residents aged 40 to 74 years of 16 municipalities in seven prefectural areas of Japan, enrolled from 2011 to 2016 through a central office at the National Cancer Center and regional public health centres and universities as the successor to the Japan Public Health Center-based Prospective Study, with questionnaires and blood and urine samples, to identify risk factors for lifestyle-related diseases and factors that extend healthy life expectancy."; "PMID:30713262"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 115385; "persons enrolled 2011-2016"; "https://europepmc.org/api/getPdf?pmcid=PMC6908844"; rdfs:comment "Results: As of December 31, 2016, we have established a population-based cohort of 115,385 persons (Response rate 44.1%), among whom 55,278 (47.9% of participants) have provided blood and urine samples." . _:4f722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JPHC (Japan Public Health Center-based Prospective) Study and JPHC-NEXT Study"; . _:4f732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "JPHC-NEXT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22712; , , ; ; "PMID:33038086"; "A government-funded, population-based cardiovascular screening cohort run by the National Center for Cardiovascular Diseases (Fuwai Hospital, Beijing) that, after a pilot in four provinces, enrolled community-dwelling residents aged 35 to 75 years at urban districts and rural counties in all 31 provinces of mainland China from 2014, with blood pressure, anthropometric and lipid measurements and a health questionnaire, and gave further assessment, counselling and follow-up to those at high risk, to identify people at high risk of cardiovascular disease and support research on its prevention."; "The acronym MPP also denotes Malmö Preventive Project (COHO:0000787); this term is China Patient-centered Evaluative Assessment of Cardiac Events Million Persons Project."@en; 2660666; "China PEACE (Patient-centered Evaluative Assessment of Cardiac Events) Million Persons Project", "China PEACE MPP", "China PEACE Million Persons Project", "China PEACE million persons project", "China PEACE-MPP", "China PEACE-Million Persons Project", "China Patient-Centered Evaluative Assessment of Cardiac Events Million Persons Project", "China-PEACE Million Persons Project", "MPP"; ; rdfs:label "China Patient-centered Evaluative Assessment of Cardiac Events Million Persons Project"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22712 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22712; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4716208/fullTextXML"; rdfs:comment "The pilot is the first large-scale population-based screening project in China aimed at identifying subjects at high risk of cardiovascular disease (CVD) and collecting detailed information and biospecimens as part of a precision medicine project." . _:4f752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7928212/fullTextXML"; rdfs:comment "From September 2014 to November 2018, we used a purposive sampling strategy to select 189 sites (114 rural counties, 75 urban districts) from all 31 provinces in mainland China." . _:4f762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:33038086"; "Severe hypertension in China: results from the China PEACE million persons project."; "PMID:33038086", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7928212/fullTextXML"; rdfs:comment "We enrolled 2 660 666 participants aged 35–75 years from 31 provinces between 2014 and 2018 in the cross-sectional China Patient-Centered Evaluative Assessment of Cardiac Events Million Persons Project." . _:4f772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A government-funded, population-based cardiovascular screening cohort run by the National Center for Cardiovascular Diseases (Fuwai Hospital, Beijing) that, after a pilot in four provinces, enrolled community-dwelling residents aged 35 to 75 years at urban districts and rural counties in all 31 provinces of mainland China from 2014, with blood pressure, anthropometric and lipid measurements and a health questionnaire, and gave further assessment, counselling and follow-up to those at high risk, to identify people at high risk of cardiovascular disease and support research on its prevention."; "PMID:26729395", "PMID:33038086"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2660666; "participants aged 35-75 enrolled in 31 provinces, 2014-2018"; "PMID:33038086"; rdfs:comment "We enrolled 2 660 666 participants aged 35-75 years from 31 provinces between 2014 and 2018 in the cross-sectional China Patient-Centered Evaluative Assessment of Cardiac Events Million Persons Project." . _:4f792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "China PEACE (Patient-centered Evaluative Assessment of Cardiac Events) Million Persons Project"; . _:4f7a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "China PEACE MPP"; . _:4f7b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "China PEACE-MPP"; . _:4f7c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MPP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22722; , , ; , ; "PMID:27956187"; "An open population cohort of all resident and non-resident members of households in a demographic and health surveillance area in the uMkhanyakude district of rural KwaZulu-Natal, South Africa, established in 2000 by the Africa Centre for Health and Population Studies (now the Africa Health Research Institute) and expanded and renamed the Population Intervention Platform in 2017, with repeated household surveillance and population-based HIV surveys, to describe the demographic, social and health impact of the HIV epidemic, and later of tuberculosis and non-communicable diseases, and to evaluate interventions."; 231179; "ACDIS", "ACDIS cohort", "AHRI", "AHRI Population Cohort", "Africa Centre Demographic Information System and population-based HIV survey", "Africa Health Research Institute (AHRI) Population Cohort", "Africa Health Research Institute Population Cohort", "PIP", "PIP cohort", "Population Intervention Platform", "Population Intervention Programme"; ; rdfs:label "Africa Centre Demographic Information System"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22722 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f7d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22722; "HIV"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7938501/fullTextXML"; rdfs:comment "The aim of ACDIS was to describe the demographic, social and health impacts of a rapidly progressing HIV epidemic in rural South Africa, and to monitor the impact of intervention strategies." . _:4f7e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7938501/fullTextXML"; rdfs:comment "The aim of ACDIS was to describe the demographic, social and health impacts of a rapidly progressing HIV epidemic in rural South Africa, and to monitor the impact of intervention strategies." . _:4f7f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:27956187"; "Trends in the burden of HIV mortality after roll-out of antiretroviral therapy in KwaZulu-Natal, South Africa: an observational community cohort study."; "PMID:27956187", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27956187%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "Data come from the Africa Centre Demographic Information System (ACDIS), an observational community cohort study in the uMkhanyakude district in northern KwaZulu-Natal, South Africa." . _:4f802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An open population cohort of all resident and non-resident members of households in a demographic and health surveillance area in the uMkhanyakude district of rural KwaZulu-Natal, South Africa, established in 2000 by the Africa Centre for Health and Population Studies (now the Africa Health Research Institute) and expanded and renamed the Population Intervention Platform in 2017, with repeated household surveillance and population-based HIV surveys, to describe the demographic, social and health impact of the HIV epidemic, and later of tuberculosis and non-communicable diseases, and to evaluate interventions."; "PMID:33437994"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 231179; "unique individuals who have participated since 2000 (ACDIS and its 2017 expansion, PIP), 2018"; "PMID:33437994"; rdfs:comment "Since 2000, 231 179 unique individuals have participated in the cohort, generating >2 million person-years of follow-up." . _:4f822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ACDIS"; . _:4f832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AHRI"; . _:4f842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Africa Health Research Institute (AHRI) Population Cohort"; . _:4f852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PIP"; . a owl:NamedIndividual, ; , ; ; "PMID:39934197"; "A population-based prospective cohort study and research infrastructure in Sweden, run from Karolinska Institutet, that from 2009 to 2016 recruited adults from the general population, mainly in the Stockholm region, with index persons aged 18 to 45 years invited to bring their household members, and collected questionnaires, physical assessments and biological samples with planned repeated follow-up, to study diseases with onset early in life, pregnancy and early-life exposures, and later co-morbidity."; 50437; "LifeGene Study", "LifeGene cohort", "LifeGene study", "Swedish LifeGene cohort"; ; rdfs:label "LifeGene"@en; rdfs:seeAlso . _:4f862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11814342/fullTextXML"; rdfs:comment "The LifeGene study randomly invited individuals 18 years or older from the general population in Stockholm, Sweden, between 2009 and 2016" . _:4f872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39934197"; "Early life factors and variation in adult kidney function in the Swedish LifeGene cohort."; "PMID:39934197", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:39934197%20AND%20SRC:MED&format=json&resultType=core"; rdfs:comment "The population-based LifeGene study (Sweden) randomly recruited individuals aged 18 to 43 years (n = 12 167)." . _:4f882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based prospective cohort study and research infrastructure in Sweden, run from Karolinska Institutet, that from 2009 to 2016 recruited adults from the general population, mainly in the Stockholm region, with index persons aged 18 to 45 years invited to bring their household members, and collected questionnaires, physical assessments and biological samples with planned repeated follow-up, to study diseases with onset early in life, pregnancy and early-life exposures, and later co-morbidity."; "PMID:21104112", "PMID:39934197"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 50437; "participants with information in LifeGene (recruited 2009-2016)"; "https://www.lifegene.se/"; rdfs:comment "LifeGene startade i september 2009 och innehåller information från totalt 50,437 deltagare." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22736, _:genid-371333f489424440b12a13b9d98ced822608-genid22738; , ; , , ; ; "PMID:41469377"; "A collection of four longitudinal population health cohorts in Singapore (HELIOS, the Singapore Population Health Studies, the Singapore Epidemiology of Eye Diseases and SingHeart), brought together under an NMRC grant and in partnership with Precision Health Research, Singapore (PRECISE) and the Genome Institute of Singapore in phase II of the National Precision Medicine programme, whose multi-ancestry Asian participants were whole-genome sequenced and linked to electronic health records to study the determinants and prediction of cardiovascular disease and diabetes in Asian populations."; 100000; "PRECISE-SG100K", "SG100K cohort", "SG100K population study"; ; rdfs:label "SG100K"@en; rdfs:seeAlso . _:genid-371333f489424440b12a13b9d98ced822608-genid22736 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22738 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:4f8a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22736; "cardiovascular disease"; "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; rdfs:comment "Funded by an NMRC OF-LCG grant that brought together four longitudinal cohorts in Singapore, the SG100K cohort is an Investigator-Initiated Study focused on determinants and prediction of cardiovascular disease and diabetes in Asian populations." . _:4f8b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22738; "diabetes"; "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; rdfs:comment "Funded by an NMRC OF-LCG grant that brought together four longitudinal cohorts in Singapore, the SG100K cohort is an Investigator-Initiated Study focused on determinants and prediction of cardiovascular disease and diabetes in Asian populations." . _:4f8c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; rdfs:comment "Health for Life in Singapore (HELIOS), NTU" . _:4f8d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; rdfs:comment "Singapore Epidemiology of Eye Diseases (SEED), SERI" . _:4f8e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; rdfs:comment "The PRECISE-SG100K resource is a unique multi-ancestry Asian population cohort dataset of ~100,000 Singaporean residents, jointly created by PRECISE, SG100K Institutions and GIS." . _:4f8f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:41469377"; "The Health for Life in Singapore (HELIOS) Study: delivering precision medicine research for Asian populations."; "PMID:41469377", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12764833/supplementaryFiles"; rdfs:comment "Panel a) admixture analysis of the HELIOS (labelled SG100K) data using SCOPE with k=6 populations." . _:4f902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of four longitudinal population health cohorts in Singapore (HELIOS, the Singapore Population Health Studies, the Singapore Epidemiology of Eye Diseases and SingHeart), brought together under an NMRC grant and in partnership with Precision Health Research, Singapore (PRECISE) and the Genome Institute of Singapore in phase II of the National Precision Medicine programme, whose multi-ancestry Asian participants were whole-genome sequenced and linked to electronic health records to study the determinants and prediction of cardiovascular disease and diabetes in Asian populations."; "PMID:41469377", "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 100000; "approximate number of Singapore residents across the four member cohorts in the PRECISE-SG100K dataset"; "https://www.npm.sg/our-data-users/data-access/data-access-to-precise-sg100k/"; rdfs:comment "The PRECISE-SG100K resource is a unique multi-ancestry Asian population cohort dataset of ~100,000 Singaporean residents, jointly created by PRECISE, SG100K Institutions and GIS." . a owl:NamedIndividual, ; , ; , , ; ; "PMID:39282516"; "A national network, established in 2016 by South Africa's Department of Science and Innovation and hosted by the South African Medical Research Council, that harmonises the longitudinal population surveillance of health and demographic surveillance system (HDSS) nodes in South Africa, starting from the rural Agincourt, DIMAMO and Africa Health Research Institute HDSSs and extending to urban nodes, to provide up-to-date longitudinal health, demographic and socioeconomic data for research and national policy."; 355000; "SAPRIN", "SAPRIN (South African Population Research Infrastructure Network)", "SAPRIN population cohort"; ; rdfs:label "South African Population Research Infrastructure Network"@en; rdfs:seeAlso . _:4f922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10030929/fullTextXML"; rdfs:comment "The MRC/Wits Rural Public Health and Health Transitions Research Unit and Agincourt Health and Socio-Demographic Surveillance System, a node of the South African Population Research Infrastructure Network (SAPRIN), is supported by the Department of Science and Innovation" . _:4f932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9365637/fullTextXML"; rdfs:comment "What has been done?Since SAPRIN’s inception in 2016, three existing health and demographic surveillance system (HDSS) nodes in South Africa have been brought together to form a harmonized national network, namely: MRC/Wits University Agincourt HDSS in Bushbuckridge District, Mpumalanga, established in 1992 with a 2019 population of 115 000 individuals2; University of Limpopo DIMAMO HDSS in the Capricorn District of Limpopo, established in 1995, with population of 8000 individuals, then expanded to 42 000 individuals in 2010, and expanded again in 2019 to 100 0003; and the Africa Health Research Institute (AHRI) HDSS in uMkhanyakude District, KwaZulu-Natal, linked to the University of KwaZulu-Natal,4 established in 2000 with a 2019 population of 140 000 individuals." . _:4f942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9365637/fullTextXML"; rdfs:comment "Since SAPRIN’s inception in 2016, three existing health and demographic surveillance system (HDSS) nodes in South Africa have been brought together to form a harmonized national network, namely: MRC/Wits University Agincourt HDSS in Bushbuckridge District, Mpumalanga, established in 1992 with a 2019 population of 115 000 individuals" . _:4f952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:39282516"; "Dataset: A consolidated and harmonised Verbal Autopsy dataset from Health and Demographic Surveillance Sites in South Africa."; "PMID:39282516", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC11399759/fullTextXML"; rdfs:comment "The dataset harmonises and links routinely collected VA data from the South African Population Research Infrastructure Network (SAPRIN)." . _:4f962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national network, established in 2016 by South Africa's Department of Science and Innovation and hosted by the South African Medical Research Council, that harmonises the longitudinal population surveillance of health and demographic surveillance system (HDSS) nodes in South Africa, starting from the rural Agincourt, DIMAMO and Africa Health Research Institute HDSSs and extending to urban nodes, to provide up-to-date longitudinal health, demographic and socioeconomic data for research and national policy."; "PMID:34966919", "http://saprin.mrc.ac.za/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4f972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 355000; "individuals under surveillance in the three founding HDSS nodes in 2020"; "https://europepmc.org/api/getPdf?pmcid=PMC9365637"; rdfs:comment "In 2020, the SAPRIN population cohort covered 355000 individuals for whom data on births and deaths, residency status and migration, household asset ownership status, and measures of well-being including employment, education and social protection are updated three times a year." . _:4f982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAPRIN"; . _:4f992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SAPRIN (South African Population Research Infrastructure Network)"; . a owl:NamedIndividual, ; , , , ; , , , , , , , , , , ; ; "PMID:28557991"; "A research consortium funded by the European Commission under Horizon 2020 that pooled and harmonised data from existing adult and child cohort studies in Europe, the USA and Australia, including CoLaus, SKIPOGH, Constances and the Melbourne Collaborative Cohort Study, with biomarker and omics sub-studies, to investigate the biological pathways through which socioeconomic position affects healthy ageing over the life course."; 1700000; "LIFEPATH", "LIFEPATH (Lifecourse biological pathways underlying social differences in healthy aging)", "LIFEPATH Consortium", "LIFEPATH project", "Lifepath", "Lifepath Consortium"; ; rdfs:label "Lifecourse biological pathways underlying social differences in healthy aging"@en; rdfs:seeAlso . _:4f9a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448763/fullTextXML"; rdfs:comment "two Swiss cohorts (CoLaus/PsycoLaus [ 56 ], random sample of Lausanne inhabitants; Skipogh [ 57 ], Swiss volunteer families)" . _:4f9b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448763/fullTextXML"; rdfs:comment "one Australian cohort (MCCS [ 60 ], random sample of Melbourne dwellers)" . _:4f9c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448763/fullTextXML"; rdfs:comment "two Swiss cohorts (CoLaus/PsycoLaus [ 56 ], random sample of Lausanne inhabitants; Skipogh [ 57 ], Swiss volunteer families)" . _:4f9d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448763/fullTextXML"; rdfs:comment "three French cohorts (Constances [ 51 ], adult subjects randomly selected from French adults;" . _:4f9e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7235337/fullTextXML"; rdfs:comment "Lifepath researchers explored SEP as a risk factor for adult NCDs in a multi-cohort study of over 1.7 million individuals from 48 independent cohorts from the UK, France, Switzerland, Portugal, Italy, the USA, and Australia" . _:4f9f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448763/fullTextXML"; rdfs:comment "one Irish cohort (TILDA [58], random sample of community dwelling older persons aged 50 years+)" . _:4fa02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:28557991"; "Socioeconomic indicators in epidemiologic research: A practical example from the LIFEPATH study."; "PMID:28557991", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5448763/fullTextXML"; rdfs:comment "Information on the available social indicators (education, own and father’s occupational class, income) from eleven adult cohorts participating in LIFEPATH" . _:4fa12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A research consortium funded by the European Commission under Horizon 2020 that pooled and harmonised data from existing adult and child cohort studies in Europe, the USA and Australia, including CoLaus, SKIPOGH, Constances and the Melbourne Collaborative Cohort Study, with biomarker and omics sub-studies, to investigate the biological pathways through which socioeconomic position affects healthy ageing over the life course."; "PMID:28557991", "PMID:32478023", "http://www.lifepathproject.eu/"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4fa22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1700000; "individuals from 48 cohorts pooled in the flagship multi-cohort analysis of socioeconomic position and mortality (stated as 'over 1.7 million')"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7235337/fullTextXML"; rdfs:comment "Lifepath researchers explored SEP as a risk factor for adult NCDs in a multi-cohort study of over 1.7 million individuals from 48 independent cohorts from the UK, France, Switzerland, Portugal, Italy, the USA, and Australia (7) (Figure 1) (see the section “Health inequalities in cohorts and the underlying mechanisms,” page 18)." . _:4fa32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIFEPATH"; . _:4fa42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "LIFEPATH (Lifecourse biological pathways underlying social differences in healthy aging)"; . _:4fa52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Lifepath"; . a owl:NamedIndividual, ; , ; ; "PMID:16234822"; "A population-based cohort of adult residents of Vorarlberg, the westernmost province of Austria, enrolled from 1985 through a routine risk-factor surveillance and prevention programme run by the Agency for Social and Preventive Medicine, in which local physicians carried out a physical examination, blood test and consultation, and followed by linkage to the Vorarlberg cancer registry and death index to study metabolic and other risk factors for cancer, cardiovascular disease and mortality."; 167371; "VHM&PP", "VHM&PP Study Cohort", "Vorarlberg Health Monitoring and Prevention Program", "Vorarlberg Health Monitoring and Promotion Program"; ; rdfs:label "Vorarlberg Health Monitoring and Prevention Programme"@en; rdfs:seeAlso . _:4fa62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2361672/fullTextXML"; rdfs:comment "The Vorarlberg Health Monitoring and Promotion Program (VHM&PP) is carried out in Vorarlberg, the westernmost province of Austria." . _:4fa72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:16234822"; "Obesity and incidence of cancer: a large cohort study of over 145,000 adults in Austria."; "PMID:16234822", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2361672/fullTextXML"; rdfs:comment "Between 1985 and 2001, 167 371 adult Vorarlberg residents were enrolled in the VHM&PP Study Cohort after signing an informed consent to store and process personal data (height, weight, smoking and other factors)." . _:4fa82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based cohort of adult residents of Vorarlberg, the westernmost province of Austria, enrolled from 1985 through a routine risk-factor surveillance and prevention programme run by the Agency for Social and Preventive Medicine, in which local physicians carried out a physical examination, blood test and consultation, and followed by linkage to the Vorarlberg cancer registry and death index to study metabolic and other risk factors for cancer, cardiovascular disease and mortality."; "PMID:16234822", "PMID:19380371"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4fa92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 167371; "adult residents enrolled 1985-2001"; "PMID:16234822"; rdfs:comment "Between 1985 and 2001, 167 371 adult Vorarlberg residents were enrolled in the VHM&PP Study Cohort after signing an informed consent to store and process personal data (height, weight, smoking and other factors)." . _:4faa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VHM&PP"; . a owl:NamedIndividual, ; ; , ; ; "PMID:24149770"; "A prospective population-based cohort of men and women aged 45 years and over in New South Wales, Australia, randomly sampled from the Medicare enrolment database and recruited by postal questionnaire in 2005–2009 by the Sax Institute, with oversampling of people aged 80 and over and of rural and remote residents, repeated follow-up surveys, biospecimen sub-studies and routine linkage to mortality, hospital, pharmaceutical and other health records, as a resource for research on health and ageing."; 267357; "Sax Institute's 45 and Up Study"; ; rdfs:label "45 and Up Study"@en; rdfs:seeAlso . _:4fab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9908035/fullTextXML"; rdfs:comment "The 45 and Up Study (‘the Study’) recruited 267 357 participants aged ≥45 years from New South Wales, Australia between 2005 and 2009 as a resource for researchers and policy makers to source evidence to support better health and ageing." . _:4fac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24149770"; "Body mass index and incident hospitalisation for cardiovascular disease in 158 546 participants from the 45 and Up Study."; "PMID:24149770", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4052432/fullTextXML"; rdfs:comment "The Sax Institute's 45 and Up Study is a large-scale Australian cohort study of 267 151 men and women aged 45 years and over, randomly sampled from the general population of New South Wales (NSW), Australia." . _:4fad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective population-based cohort of men and women aged 45 years and over in New South Wales, Australia, randomly sampled from the Medicare enrolment database and recruited by postal questionnaire in 2005–2009 by the Sax Institute, with oversampling of people aged 80 and over and of rural and remote residents, repeated follow-up surveys, biospecimen sub-studies and routine linkage to mortality, hospital, pharmaceutical and other health records, as a resource for research on health and ageing."; "PMID:35604374"; "Claude Opus 5.5 (Anthropic), 2026-09" . _:4fae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 267357; "men and women enrolled 2005-2009"; "PMID:35604374"; rdfs:comment "A total of 1 395 174 invitations were mailed and 267 357 participants enrolled." . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "PMID:37337639"; "An international consortium of large population cohorts, established in 2018 to work beyond the constraints of individual health and population cohorts, whose members are chosen for size, longitudinal health follow-up, broad participant selection, biological sample collection and a commitment to data sharing, and which maintains the IHCC Cohort Atlas, a directory of the data its member cohorts hold."; 33872619; "IHCC", "International Hundred K+ Cohorts Consortium", "International Hundred Thousand Plus Cohort Consortium", "International HundredK+ Cohorts Consortium"; rdfs:label "International Health Cohorts Consortium"@en; rdfs:seeAlso . _:4faf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "AWI-Gen, University of the Witwatersrand, Johannesburg" . _:4fb02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Estonian Biobank" . _:4fb12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "European Investigation of Cancer and Nutrition (EPIC)" . _:4fb22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Multiethnic Cohort Study" . _:4fb32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Netherlands Twin Registry" . _:4fb42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Norwegian Mother and Child Cohort Study (MoBa)" . _:4fb52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "UK Biobank" . _:4fb62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Genomics England / 100,000 Genomes Project" . _:4fb72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Genes & Health" . _:4fb82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Uganda General Population Cohort/Uganda Genome Resource/ MRC Uganda" . _:4fb92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Million Veteran Program" . _:4fba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Biobank Japan" . _:4fbb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "SIMPLER" . _:4fbc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Qatar Genome Project" . _:4fbd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "WHI (Women's Health Initiative)" . _:4fbe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Korean Genome and Epidemiology Study (KoGES)" . _:4fbf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "BioVU Vanderbilt" . _:4fc02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "China Kadoorie Biobank" . _:4fc12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "All of Us / NIH" . _:4fc22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Taiwan Biobank" . _:4fc32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Geisinger Cohort - MyCode Community Health Initiative" . _:4fc42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "23andMe" . _:4fc52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Nurses' Health Study" . _:4fc62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Qatar Biobank Cohort" . _:4fc72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial" . _:4fc82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Korean Cancer Prevention Study (KCPS-II Biobank)" . _:4fc92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Bandim Health Project" . _:4fca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Center for Applied Genomics, Children's Hospital of Philadelphia" . _:4fcb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "National Autonomous University of Mexico" . _:4fcc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Tohoku University, Tohoku Medical Megabank Organization" . _:4fcd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Kaiser Permanente Research Bank (KPRB)" . _:4fce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "NHSII (Nurses' Health Study II, NCI)" . _:4fcf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Danish National Birth Cohort/Statens Serum Institut" . _:4fd02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "JPHC (Japan Public Health Center-based Prospective) Study and JPHC-NEXT Study" . _:4fd12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Pakistan Genomic Resource (PGR)" . _:4fd22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Canadian Partnership for Tomorrow's Health" . _:4fd32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "National Biobank of Korea" . _:4fd42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Northern Sweden Health and Disease" . _:4fd52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Generations Study" . _:4fd62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "ELSA-Brasil" . _:4fd72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Shanghai Men and Women's Health Studies" . _:4fd82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "California Teachers Study (CTS)" . _:4fd92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "EpiHealth" . _:4fda2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Healthy Nevada" . _:4fdb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Finnish Maternity Cohort Serum Bank" . _:4fdc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "CONSTANCES" . _:4fdd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "MAUCO" . _:4fde2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Golestan Cohort Study" . _:4fdf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Norwegian Family Based Life Course Study" . _:4fe02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "C19-GenoNet" . _:4fe12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Million Women Study" . _:4fe22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Saudi National Biobank" . _:4fe32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "PERSIAN Cohort Study" . _:4fe42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Generation Victoria (GenV)" . _:4fe52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "South Asia Biobank" . _:4fe62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Dementias Platform UK" . _:4fe72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Iganga Mayuge HDSS, Makerere University Centre for Health and Population Research (MUCHAP)" . _:4fe82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "HUNT 70+, The HUNT Study" . _:4fe92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Coronagenes/University of Edinburgh" . _:4fea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "German National Cohort (NAKO)" . _:4feb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "The Malaysian Cohort" . _:4fec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "American Cancer Society Cancer Prevention Study-3" . _:4fed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Personalized Genes and Environment Study/NIEHS" . _:4fee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Sequence Bio" . _:4fef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "UKCTOCS Longitudinal Women's Cohort (UKLWC)" . _:4ff02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "KEMRI-Wellcome" . _:4ff12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Cancer Prevention Study II Nutrition Cohort" . _:4ff22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Environmental influences on Child Health Outcomes (ECHO) Cohort" . _:4ff32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "JPHC (Japan Public Health Center-based Prospective) Study and JPHC-NEXT Study" . _:4ff42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "China PEACE (Patient-centered Evaluative Assessment of Cardiac Events) Million Persons Project" . _:4ff52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "Africa Health Research Institute (AHRI) Population Cohort" . _:4ff62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "LifeGene" . _:4ff72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "SG100K" . _:4ff82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "SAPRIN (South African Population Research Infrastructure Network)" . _:4ff92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "LIFEPATH (Lifecourse biological pathways underlying social differences in healthy aging)" . _:4ffa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "VHM&PP" . _:4ffb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://atlas.ihccglobal.org/"; rdfs:comment "45 and Up Study" . _:4ffc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:37337639"; "Trans-ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study."; "PMID:37337639", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10280047/fullTextXML"; rdfs:comment "As a collaboration model of the International Hundred K+ Cohorts Consortium (IHCC), we endeavored to develop a globally applicable trans‐ethnic PRS for body mass index (BMI) through this relatively new international effort." . _:4ffd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium of large population cohorts, established in 2018 to work beyond the constraints of individual health and population cohorts, whose members are chosen for size, longitudinal health follow-up, broad participant selection, biological sample collection and a commitment to data sharing, and which maintains the IHCC Cohort Atlas, a directory of the data its member cohorts hold."; "PMID:40841586"; "Claude Fable 5.1 (Anthropic), 2026-09" . _:4ffe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 33872619; "unique participants across the 69 member cohorts that reported (approximate, summed by the consortium), 2025"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12371067/fullTextXML"; rdfs:comment "A Breakdown of ~33,872,619 unique participants across 69 reporting sites." . _:4fff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IHCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22856; , ; ; "PMID:19198609"; "A hospital-based case-control study of premature coronary artery disease at Massachusetts General Hospital in Boston, United States, with recruitment reported from 1999. Its Myocardial Infarction Genetics Consortium sample comprised men aged 50 or younger and women aged 60 or younger hospitalized with myocardial infarction between 1999 and 2004, with age- and sex-matched controls recruited through newspaper advertisements in Boston and its vicinity who reported no cardiovascular disease or cardiac medication use."; 295; 145; "MGH PCAD", "MGH Premature Coronary Artery Disease Study", "Massachusetts General Hospital Premature Coronary Artery Disease"; rdfs:label "Massachusetts General Hospital Premature Coronary Artery Disease Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22856 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22856; "acute coronary syndrome"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1289285/fullTextXML"; rdfs:comment "Inclusion criteria were; documented acute coronary syndrome (myocardial infarction or unstable angina) confirmed on coronary angiogram; and age ≤ 50 years for males or ≤ 55 years for females." . _:50012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2681011/"; rdfs:comment "Stage 1 consisted of the Myocardial Infarction Genetics Consortium (MIGen), a collection of 2,967 cases of early-onset MI (in men ≤50 years old or women ≤60 years old) and 3,075 age- and sex-matched controls free of MI from six international sites: Boston and Seattle in the United States as well as Sweden, Finland, Spain, and Italy (Table 1 and Supplementary Methods)." . _:50022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19198609"; "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants."; "PMID:19198609", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; rdfs:comment "MGH PCAD3 study is a hospital-based case-control study of cases of early-onset MI and controls matched on age and sex." . _:50032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of premature coronary artery disease at Massachusetts General Hospital in Boston, United States, with recruitment reported from 1999. Its Myocardial Infarction Genetics Consortium sample comprised men aged 50 or younger and women aged 60 or younger hospitalized with myocardial infarction between 1999 and 2004, with age- and sex-matched controls recruited through newspaper advertisements in Boston and its vicinity who reported no cardiovascular disease or cardiac medication use."; "PMID:16262891", "PMID:19198609", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.327/MediaObjects/41588_2009_BFng327_MOESM15_ESM.pdf"; "GPT-6 (OpenAI), 2026-09" . _:50042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 295; "Recruitment of patients with premature coronary artery disease presenting as acute coronary syndromes and outpatient controls during 1999–2003, reported in the original 2005 profile PMID:16262891; not the later MIGen GWAS sample."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1289285/fullTextXML"; rdfs:comment "During the study period we enrolled 295 subjects with premature CAD and 145 controls." . _:50052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 145; "Recruitment of patients with premature coronary artery disease presenting as acute coronary syndromes and outpatient controls during 1999–2003, reported in the original 2005 profile PMID:16262891; not the later MIGen GWAS sample."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1289285/fullTextXML"; rdfs:comment "During the study period we enrolled 295 subjects with premature CAD and 145 controls." . _:50062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MGH PCAD"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22864, _:genid-371333f489424440b12a13b9d98ced822608-genid22866; , ; , ; ; "PGS002804", "PMID:40691366"; "The parents of the infants enrolled in the Special Turku Coronary Risk Factor Intervention Project (STRIP) in Turku, Finland, between 1989 and 1992, who enrolled in the trial with their children and contributed as a parent sample to genome-wide studies of blood lipids and anthropometric traits."; "The acronym STRIP also denotes Special Turku Coronary Risk Factor Intervention Project (COHO:0002415); this term is Special Turku Coronary Risk Factor Intervention Project, Parents."@en; 1029; "STRIP", "STRIP-PARENTS", "Special Turku Coronary Risk Factor Intervention Project (STRIP) parents", "Special Turku Coronary Risk Factor Intervention Project - Parents", "Special Turku Coronary Risk Factor Intervention Project – Parents"; ; rdfs:label "Special Turku Coronary Risk Factor Intervention Project, Parents"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22864 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22866 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22864; "diet"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "The intervention is unique in that it began in infancy and continued for 20 years, with personalized dietary counseling provided to children and their parents in the intervention group." . _:50082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22866; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "It aimed at improving fat quality and promoting healthy foods to prevent cardiovascular diseases." . _:50092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "The STRIP study enrolled children and their families who were recruited at well‐baby clinics at their routine 5‐month visit between December 1, 1989, and May 30, 1992 in the city of Turku, Finland. The children constituted a representative sample of 5‐month‐old children in the area. A total of 1062 7‐month‐old infants and their parents were enrolled in the trial." . _:500a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC13092225/fullTextXML"; rdfs:comment "The STRIP study enrolled children and their families who were recruited at well‐baby clinics at their routine 5‐month visit between December 1, 1989, and May 30, 1992 in the city of Turku, Finland. The children constituted a representative sample of 5‐month‐old children in the area. A total of 1062 7‐month‐old infants and their parents were enrolled in the trial." . _:500b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS002804"; "A saturated map of common genetic variants associated with human height."; "PMID:36224396" . _:500c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:40691366"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:40691366", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "STRIP-PARENTS | Special Turku Coronary Risk Factor Intervention Project - Parents | EUR | 1029" . _:500d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "The parents of the infants enrolled in the Special Turku Coronary Risk Factor Intervention Project (STRIP) in Turku, Finland, between 1989 and 1992, who enrolled in the trial with their children and contributed as a parent sample to genome-wide studies of blood lipids and anthropometric traits."; "PMID:34887591", "PMID:36224396", "PMID:40691366", "PMID:42011282"; "GPT-6 (OpenAI), 2026-09" . _:500e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1029; "Nmax of STRIP-PARENTS in the BMI GWAS discovery sample, PMID:40691366"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41591-025-03827-z/MediaObjects/41591_2025_3827_MOESM3_ESM.xlsx"; rdfs:comment "STRIP-PARENTS | Special Turku Coronary Risk Factor Intervention Project - Parents | EUR | 1029" . _:500f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STRIP"; . _:50102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STRIP-PARENTS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22876; , ; ; "PMID:29892015"; "A prospective, observational hospital-based cohort of adults with recent-onset paroxysmal or persistent atrial fibrillation for whom a rhythm-control strategy was preferred, conducted at the University Medical Center Groningen and Maastricht University Medical Center in the Netherlands between 2011 and 2016, with detailed cardiovascular phenotyping and serial rhythm monitoring to identify markers of atrial remodelling and atrial fibrillation progression and guide therapy."; 499; "AF RISK", "AF Risk", "AF Risk study", "AF risk profile study", "AF-RISK", "AF-RISK study", "AF-Risk", "AF-Risk study", "identification of a risk profile to guide atrial fibrillation therapy"; rdfs:label "Identification of a risk profile to guide atrial fibrillation therapy"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22876 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22876; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8914333/fullTextXML"; rdfs:comment "In short, AF RISK was a multicenter, prospective, observational study, including patients aged ≥ 18 years, with pAF (total AF history < 2 years, or total AF history < 3 years in case of ≤ 2 AF episodes of ≤ 48 h per month terminating spontaneously) or persistent AF (total AF history < 2 years, and total persistent AF duration > 7 days and < 1 year) in whom a rhythm control strategy was preferred." . _:50122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12933449/fullTextXML"; rdfs:comment "The identification of a risk profile to guide atrial fibrillation therapy (AF-RISK) study was a Dutch prospective, observational multicenter cohort study conducted at the University Medical Centre Groningen and the Maastricht University Medical Centre + between May 2011 and March 2016." . _:50132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The AF-Risk study (ClinicalTrials.gov Identifier: NCT01510210) is an observational hospital-based cohort (n=500; in GGAF 339) to seek for markers of severity of atrial remodeling and predict outcome of a rhythm control treatment strategy." . _:50142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective, observational hospital-based cohort of adults with recent-onset paroxysmal or persistent atrial fibrillation for whom a rhythm-control strategy was preferred, conducted at the University Medical Center Groningen and Maastricht University Medical Center in the Netherlands between 2011 and 2016, with detailed cardiovascular phenotyping and serial rhythm monitoring to identify markers of atrial remodelling and atrial fibrillation progression and guide therapy."; "PMID:35281756", "PMID:41756112", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; "GPT-6 (OpenAI), 2026-09" . _:50152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 499; "AF-RISK included patients who underwent baseline assessment and blood sampling"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8167185/fullTextXML"; rdfs:comment "After inclusion, all patients underwent baseline assessment including peripheral venous blood sampling for biomarker analyses (n = 499)." . _:50162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AF RISK"; . _:50172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AF Risk"; . _:50182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AF-RISK"; . _:50192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AF-Risk"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22886; , ; ; "PMID:29892015"; "An observational cohort of adults with atrial fibrillation first diagnosed before age 60, recruited at the outpatient clinic of the University Medical Center Groningen, the Netherlands, in 2012–2013, combining retrospective information near the first diagnosis with prospective follow-up to characterize their clinical and familial profile, atrial fibrillation progression and cardiovascular outcomes."; 500; "YOUNG-AF", "Young AF", "Young AF study", "Young-AF", "Young-AF study"; rdfs:label "Phenotyping Young-Onset Atrial Fibrillation Patients study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22886 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:501a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22886; "atrial fibrillation"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6923497/fullTextXML"; rdfs:comment "At the outpatient clinic patients with AF onset <60 years, ≥18 years at time of inclusion were asked to participate." . _:501b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6923497/fullTextXML"; rdfs:comment "In brief, YOUNG-AF was a partly prospective, partly retrospective, observational study performed at the University Medical Center Groningen, The Netherlands." . _:501c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Young-AF study is an observational hospital-based cohort (n=500; in GGAF 311) to seek describe the phenotypic profile of patients with AF onset at age <60 years and the occurrence of AF progression during 5 years follow up." . _:501d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational cohort of adults with atrial fibrillation first diagnosed before age 60, recruited at the outpatient clinic of the University Medical Center Groningen, the Netherlands, in 2012–2013, combining retrospective information near the first diagnosis with prospective follow-up to characterize their clinical and familial profile, atrial fibrillation progression and cardiovascular outcomes."; "PMID:31890859", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; "GPT-6 (OpenAI), 2026-09" . _:501e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 500; "Patients included August 2012–December 2013, before three later eligibility exclusions. (2012–2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6923497/fullTextXML"; rdfs:comment "Between August 2012 and December 2013, 500 patients were included." . _:501f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "YOUNG-AF"; . _:50202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Young AF"; . _:50212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Young-AF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22895; , ; ; "PMID:29892015"; "An observational hospital-based registry of patients with atrial fibrillation at the University Medical Center Groningen, the Netherlands, combining standard clinical atrial fibrillation assessment with blood sampling and longitudinal follow-up to identify risk profiles that guide atrial fibrillation therapy."; 458; "Biomarker AF", "Biomarker-AF", "Biomarker-AF study"; rdfs:label "Biomarker AF study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22895 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22895; "atrial fibrillation"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Biomarker AF study (ClinicalTrials.gov Identifier: NCT01510197) is an observational hospital-based cohort (n=500; in GGAF 458) to identify a risk profile to guide AF therapy in all-comers with AF." . _:50232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7891778/fullTextXML"; rdfs:comment "Three hospital-based, prospective, AF registries (AF-RISK study, Biomarker-AF study and Young-AF study) recruited in the University Medical Center Groningen and two age- and sex-matched reference cohorts (Prevention of Renal and Vascular End-stage Disease (PREVEND) study and the Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction (GIPS) III) are enclosed in the GGAF cohort (n = 2207)." . _:50242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Biomarker AF study (ClinicalTrials.gov Identifier: NCT01510197) is an observational hospital-based cohort (n=500; in GGAF 458) to identify a risk profile to guide AF therapy in all-comers with AF." . _:50252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An observational hospital-based registry of patients with atrial fibrillation at the University Medical Center Groningen, the Netherlands, combining standard clinical atrial fibrillation assessment with blood sampling and longitudinal follow-up to identify risk profiles that guide atrial fibrillation therapy."; "PMID:29892015", "PMID:33600500", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; "GPT-6 (OpenAI), 2026-09" . _:50262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 458; "Biomarker AF participants contributed to the GGAF genetic repository in the 2018 cohort profile; a subset."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The Biomarker AF study (ClinicalTrials.gov Identifier: NCT01510197) is an observational hospital-based cohort (n=500; in GGAF 458) to identify a risk profile to guide AF therapy in all-comers with AF." . _:50272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biomarker AF"; . _:50282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Biomarker-AF"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22903; , ; ; "PMID:29892015"; "A single-centre, double-blind, randomized, placebo-controlled trial at the University Medical Center Groningen, the Netherlands, that recruited patients without diabetes undergoing primary percutaneous coronary intervention for ST-segment elevation myocardial infarction in 2011–2013, to test whether four months of metformin treatment preserved left ventricular function."; 380; "GIPS", "GIPS III", "GIPS study", "GIPS-III", "GIPS-III trial", "Glycometabolic Intervention as adjunct to primary Percutaneous coronary intervention in ST elevation myocardial infarction", "glycometabolic intervention as adjunct to primary percutaneous coronary intervention in ST elevation myocardial infarction III study"; rdfs:label "Glycometabolic Intervention as adjunct to Primary percutaneous intervention in ST elevation myocardial infarction (GIPS)-III trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22903 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22903; "ST-segment elevation myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24687169+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To evaluate the effect of metformin treatment on preservation of left ventricular function in patients without diabetes presenting with ST-segment elevation myocardial infarction (STEMI)." . _:502a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24687169+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Double-blind, placebo-controlled study conducted among 380 patients who underwent primary percutaneous coronary intervention (PCI) for STEMI at the University Medical Center Groningen, The Netherlands, between January 1, 2011, and May 26, 2013." . _:502b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:29892015"; "Polygenic prediction of body mass index and obesity through the life course and across ancestries."; "PMID:29892015", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; rdfs:comment "The GIPS study is a randomized-controlled trial (n=380; in GGAF 362) to evaluate the effect of metformin treatment on preservation of left ventricular function in patients without diabetes presenting with ST-segment elevation myocardial infarction (STEMI)." . _:502c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre, double-blind, randomized, placebo-controlled trial at the University Medical Center Groningen, the Netherlands, that recruited patients without diabetes undergoing primary percutaneous coronary intervention for ST-segment elevation myocardial infarction in 2011–2013, to test whether four months of metformin treatment preserved left ventricular function."; "PMID:22968678", "PMID:24687169", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41588-018-0133-9/MediaObjects/41588_2018_133_MOESM1_ESM.pdf"; "GPT-6 (OpenAI), 2026-09" . _:502d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 380; "Participants in the original randomized GIPS-III trial, PMID:24687169. (2011–2013)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24687169+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Double-blind, placebo-controlled study conducted among 380 patients who underwent primary percutaneous coronary intervention (PCI) for STEMI at the University Medical Center Groningen, The Netherlands, between January 1, 2011, and May 26, 2013." . _:502e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIPS"; . _:502f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIPS III"; . _:50302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GIPS-III"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22912; ; , , ; ; "PGS001776", "PMID:35765848"; "A population-based colorectal cancer case-control collection in Shanghai, China, assembled for genetic studies in the Asia Colorectal Cancer Consortium from the Shanghai-1, Shanghai-2 and Shanghai-3 sample series. The early series include colorectal cancer cases and cancer-free controls from the Shanghai Women’s Health Study and Shanghai Men’s Health Study, with additional controls from Shanghai breast cancer studies; Shanghai-3 includes colorectal cancer cases newly recruited through the Shanghai Cancer Registry in 2009–2011, with controls from the health cohorts and breast cancer studies."; "The acronym Shanghai also denotes Shanghai Study (COHO:0000153); this term is Shanghai CRC Study."@en; 2368; 8219; "Shanghai", "Shanghai Studies", "Shanghai Studies (Shanghai-1,2,3)", "Shanghai Study"; ; rdfs:label "Shanghai CRC Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22912 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22912; "colorectal cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2505/MediaObjects/41588_2013_BFng2505_MOESM12_ESM.pdf"; rdfs:comment "Colorectal cancer (CRC) cases for the project were derived from the Shanghai Women’s Health Study (SWHS) and the Shanghai Men’s Health Study (SMHS), both population-based cohort studies which are being conducted in urban Shanghai, China." . _:50322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "Briefly, 728 cases and 728 matched controls in these two studies were identified from among participants of the Shanghai Women’s Health Study (SWHS) 2 and the Shanghai Men’s Health Study (SMHS) 3 , two population-based cohort studies conducted in Shanghai, China, with a combined sample size of 136,631 participants." . _:50332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS001776"; "Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank."; "PMID:34525106" . _:50342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:35765848"; "Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians."; "PMID:35765848", "https://pmc.ncbi.nlm.nih.gov/articles/PMC9509464/"; rdfs:comment "Shanghai Studies (Shanghai-1,2,3) Chinese 3,303 4,612 50.2 85.0 61.3 ± 8.52 54.7 ± 9.60" . _:50352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based colorectal cancer case-control collection in Shanghai, China, assembled for genetic studies in the Asia Colorectal Cancer Consortium from the Shanghai-1, Shanghai-2 and Shanghai-3 sample series. The early series include colorectal cancer cases and cancer-free controls from the Shanghai Women’s Health Study and Shanghai Men’s Health Study, with additional controls from Shanghai breast cancer studies; Shanghai-3 includes colorectal cancer cases newly recruited through the Shanghai Cancer Registry in 2009–2011, with controls from the health cohorts and breast cancer studies."; "PMID:23263487", "PMID:24836286", "PMID:35765848"; "GPT-6 (OpenAI), 2026-09" . _:50362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2368; "Pooled Shanghai-1, Shanghai-2 and Shanghai-3 sample described in the 2014 ACCC GWAS, PMID:24836286; an analysis collection, not a claimed lifetime recruitment total."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "This study included 2,368 cases and 8,219 controls from three case- control collections, Shanghai-1, Shanghai-2 and Shanghai-3." . _:50372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 8219; "Pooled Shanghai-1, Shanghai-2 and Shanghai-3 sample described in the 2014 ACCC GWAS, PMID:24836286; an analysis collection, not a claimed lifetime recruitment total."; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "This study included 2,368 cases and 8,219 controls from three case- control collections, Shanghai-1, Shanghai-2 and Shanghai-3." . _:50382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Shanghai"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22921; , ; , , ; "PMID:24836286"; "A hospital-based case-control study of multiple cancers in South Korea, with disease-specific series including breast and colorectal cancer at Chonnam National University Hwasun Hospital in Jeollanam-do province. It recruits newly diagnosed cancer patients and community controls to investigate factors in cancer development and clinical progression; its disease-specific series use interview and medical-record information and blood samples."; "HCES"; rdfs:label "Hwasun Cancer Epidemiology Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22921 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22921; "cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES is a hospital-based case-control study conducted in South Korea that includes multiple cancers 13, 14 ." . _:503a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES is a hospital-based case-control study conducted in South Korea that includes multiple cancers 13, 14 ." . _:503b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:24836286"; "Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk."; "PMID:24836286", "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2985/MediaObjects/41588_2014_BFng2985_MOESM57_ESM.pdf"; rdfs:comment "The HCES is a hospital-based case-control study conducted in South Korea that includes multiple cancers 13, 14 . The HCES-CRC consisted of 3,378 cases and 4,552 controls who were included in stage 4 of this project." . _:503c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of multiple cancers in South Korea, with disease-specific series including breast and colorectal cancer at Chonnam National University Hwasun Hospital in Jeollanam-do province. It recruits newly diagnosed cancer patients and community controls to investigate factors in cancer development and clinical progression; its disease-specific series use interview and medical-record information and blood samples."; "PMID:20504332", "PMID:24836286", "PMID:32139696"; "GPT-6 (OpenAI), 2026-09" . _:503d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HCES"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22927; , ; ; "PGS000741", "PMID:21295399"; "A cohort of men aged 80 or younger who underwent prostate biopsy in Stockholm, Sweden, between 2005 and 2007, identified through pathology-department registries and excluding men with known prostate cancer before 2005. Participants provided blood samples and questionnaire information, with historical prostate-specific antigen measurements and cancer diagnoses, stage and grade obtained through laboratory and cancer-registry linkage, to investigate inherited susceptibility and improve prostate cancer risk prediction."; "The acronym STHM also denotes Stockholm 2 (COHO:0002413); this term is Stockholm-1."@en, "The name The Stockholm Study also denotes Stockholm 2 (COHO:0002413); this term is Stockholm-1."@en; 2135; 3106; 5241; "STHLM1", "STHM", "STHM1", "Stockholm-1 cohort", "Stockholm-1 study", "The Stockholm Study"; ; rdfs:label "Stockholm-1"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22927 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:503e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22927; "prostate cancer"; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.2560/MediaObjects/41588_2013_BFng2560_MOESM4_ESM.pdf"; rdfs:comment "For the present study DNA was available from a total of 2126 prostate cancer cases and 2403 unaffected men." . _:503f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4417350/"; rdfs:comment "From patient registries in two out of three pathology departments in Stockholm, Sweden, we identified 8088 men who had undergone at least one prostate biopsy between 1 January 2005 and 31 December 2007, representing 75% of all prostate biopsies conducted during this time period in Stockholm." . _:50402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000741"; "Polygenic hazard score is associated with prostate cancer in multi-ethnic populations."; "PMID:33623038" . _:50412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21295399"; "Polygenic risk score improves prostate cancer risk prediction: results from the Stockholm-1 cohort study."; "PMID:21295399", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4417350/"; rdfs:comment "The Stockholm-1 cohort (n = 5241) consisted of men who underwent a prostate biopsy during 2005 to 2007." . _:50422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of men aged 80 or younger who underwent prostate biopsy in Stockholm, Sweden, between 2005 and 2007, identified through pathology-department registries and excluding men with known prostate cancer before 2005. Participants provided blood samples and questionnaire information, with historical prostate-specific antigen measurements and cancer diagnoses, stage and grade obtained through laboratory and cancer-registry linkage, to investigate inherited susceptibility and improve prostate cancer risk prediction."; "PMID:21295399", "PMID:23535732"; "GPT-6 (OpenAI), 2026-09" . _:50432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2135; "Original consenting Stockholm-1 cohort: 5241 men with questionnaire, consent and blood sample; 2135 prostate-cancer-positive and 3106 noncancer first-known biopsies. The biopsy-negative group is a clinical comparison group, not unselected population controls. (2005–2007 qualifying biopsies; invitation date not independently stated)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4417350/"; rdfs:comment "All men diagnosed with PCa during 2005 and 2007 at the first known biopsy were classified as biopsy positive (n = 2135), and those with a noncancer diagnosis at the first known biopsy were defined as biopsy negative (n = 3106)." . _:50442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3106; "Original consenting Stockholm-1 cohort: 5241 men with questionnaire, consent and blood sample; 2135 prostate-cancer-positive and 3106 noncancer first-known biopsies. The biopsy-negative group is a clinical comparison group, not unselected population controls. (2005–2007 qualifying biopsies; invitation date not independently stated)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4417350/"; rdfs:comment "All men diagnosed with PCa during 2005 and 2007 at the first known biopsy were classified as biopsy positive (n = 2135), and those with a noncancer diagnosis at the first known biopsy were defined as biopsy negative (n = 3106)." . _:50452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5241; "Original consenting Stockholm-1 cohort: 5241 men with questionnaire, consent and blood sample; 2135 prostate-cancer-positive and 3106 noncancer first-known biopsies. The biopsy-negative group is a clinical comparison group, not unselected population controls. (2005–2007 qualifying biopsies; invitation date not independently stated)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4417350/"; rdfs:comment "We received complete questionnaire data, written consent, and a blood sample from 5241 men (response rate: 75%) (Fig. 1)." . _:50462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHLM1"; . _:50472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHM"; . _:50482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "STHM1"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22939, _:genid-371333f489424440b12a13b9d98ced822608-genid22941; , , ; , , , , , , , , , , , , , , , , , , ; "PMID:26868379"; "An international consortium established in 2007 that pools harmonized individual-level epidemiologic and germline genetic data from independent case-control and cohort studies to investigate causes of childhood leukemia and other childhood cancers, with its scope expanded to other cancers in 2019. Its collaborative analyses examine environmental and genetic risk factors, their interactions, exposure timing, and differences among disease subtypes."; 150000; 300000; "CLIC", "Childhood Leukemia International Consortium"; rdfs:label "Childhood Cancer and Leukemia International Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22939 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22941 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22939; "childhood cancers"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13544941/"; rdfs:comment "The Childhood Cancer and Leukemia International Consortium (CLIC) was established in 2007 to study the etiology of childhood leukemia and later expanded in 2019 to include other childhood cancers, principally solid tumors." . _:504a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22941; "environmental exposures"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "CLIC provides a unique opportunity to fill gaps in knowledge about the role of environmental and genetic risk factors, critical windows of exposure, the effects of gene–environment interactions and associations among specific leukemia subtypes in different ethnic groups." . _:504b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "UK, United Kingdom Childhood Cancer Study (UKCCS) [88-90]c Department of Health Science, Epidemiology and genetics Unit, University of York (Roman E.; Lightfoot T.) 1991–1998 Case–control study; Individual matching; Case-parental trios GP registries (nationwide) Age 0–14 yrs; Incident CL diagnosed from 1991–98; GP consent; Born and resident in England, Wales, Scotland; Not under local authority care; No previous cancer GP registry (nationwide) Age 0–14 yrs; GP consent; Born and resident in England, Wales, Scotland; Not under local authority care; No previous cancer Questionnaire; Registry; Medical report; Environmental Measurement E, GxE" . _:504c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754340/fullTextXML"; rdfs:comment "As the French and Aus–ALL data sets are both part of the Childhood Leukemia International Consortium47, we merged them to create the combined ‘Aus–French' data set, from which 11 cases and 59 controls were removed following QC before imputation (described below)." . _:504d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754340/fullTextXML"; rdfs:comment "As the French and Aus–ALL data sets are both part of the Childhood Leukemia International Consortium47, we merged them to create the combined ‘Aus–French' data set, from which 11 cases and 59 controls were removed following QC before imputation (described below)." . _:504e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Australia, Aus-ALL 393 393 349 37 0 1249 Blood; Buccal cells ✓ ✓ ✓ ✓ ✓ ✓" . _:504f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Brazil, BCSG 486 359 326 33 118 539 Blood; Buccal cells ✓ ✓ ✓" . _:50502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Canada, Quebecb 790 790 683 75 0 790 Blood; Saliva; Buccal cells ✓ ✓ ✓ ✓ ✓ ✓ ✓" . _:50512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Costa Ricac 299 251 33 579 Buccal cells ✓ ✓ ✓ ✓ ✓ ✓" . _:50522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Egypt, CCHE 299 299 299 0 0 351 Blood ✓ ✓ ✓ ✓" . _:50532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "France, ESCALE 764 648 575 67 101 1681 Blood; Saliva ✓ ✓ ✓ ✓" . _:50542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Germany, GCCR 903 751 672 71 130 2458" . _:50552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Greece, NARECHEM 1335 1164 1018 121 155 1084 Blood ✓ ✓" . _:50562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Italy, SETIL 683 585 463 99 80 1044" . _:50572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "New Zealand, NZCCS 121 97 88 7 22 303 Blood ✓ ✓" . _:50582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "UK, UKCCSd 1735 1403 1154 145 249 3450 Blood ✓ ✓ ✓" . _:50592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "US, California State, CCLS 997 839 756 76 145 1226 Blood; Saliva; Buccal cells; ANBS ✓ ✓ ✓ ✓" . _:505a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26868379"; "A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology."; "PMID:26868379", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4754340/fullTextXML"; rdfs:comment "As the French and Aus–ALL data sets are both part of the Childhood Leukemia International Consortium47, we merged them to create the combined ‘Aus–French' data set, from which 11 cases and 59 controls were removed following QC before imputation (described below)." . _:505b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium established in 2007 that pools harmonized individual-level epidemiologic and germline genetic data from independent case-control and cohort studies to investigate causes of childhood leukemia and other childhood cancers, with its scope expanded to other cancers in 2019. Its collaborative analyses examine environmental and genetic risk factors, their interactions, exposure timing, and differences among disease subtypes."; "PMID:23403126", "PMID:42628293"; "GPT-6 (OpenAI), 2026-09" . _:505c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 150000; "Approximate consortium-wide all-cancer case/control inventory reported in the 2026 own profile; not exact unique-person enrolment and not a single analysis sample. (2026 profile)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13544941/"; rdfs:comment "Membership has grown from 13 studies in 9 countries to 57 studies in 21 countries; recruitment spans the early 1960s to the present and encompasses approximately 150,000 cases across all tumor types and 300,000 controls with clinical, demographic, and exposure data, centralized via harmonized data dictionaries at the Data Coordination Center, established in 2014 at the International Agency for Research on Cancer, and supported by a secure analysis platform." . _:505d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 300000; "Approximate consortium-wide all-cancer case/control inventory reported in the 2026 own profile; not exact unique-person enrolment and not a single analysis sample. (2026 profile)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC13544941/"; rdfs:comment "Membership has grown from 13 studies in 9 countries to 57 studies in 21 countries; recruitment spans the early 1960s to the present and encompasses approximately 150,000 cases across all tumor types and 300,000 controls with clinical, demographic, and exposure data, centralized via harmonized data dictionaries at the Data Coordination Center, established in 2014 at the International Agency for Research on Cancer, and supported by a secure analysis platform." . _:505e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CLIC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22963, _:genid-371333f489424440b12a13b9d98ced822608-genid22965; , ; ; "PMID:19839053"; "A national, population-based multicentre case-control study in Australia that recruited children younger than 15 years with newly diagnosed acute lymphoblastic leukemia and population controls during 2003–2007. Cases were recruited through hospitals and controls through random-digit dialing, with questionnaire information and biospecimens from children and parents used to investigate environmental and genetic causes, including maternal folate supplementation and gene–environment interactions."; 416; 1361; "AUS-ALL", "Aus-ALL", "Australian Study of Causes of Acute Lymphoblastic Leukaemia in Children", "Aus–ALL", "Aus–ALL Consortium"; rdfs:label "Australian Study of Causes of Acute Lymphoblastic Leukemia in Children"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22963 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid22965 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:505f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22963; "childhood acute lymphoblastic leukemia"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19839053+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian Study of Causes of Acute Lymphoblastic Leukemia in Children (Aus-ALL) was designed to test the hypothesis, raised by a previous Western Australian study, that maternal folic acid supplementation during pregnancy might reduce the risk of childhood acute lymphoblastic leukemia (ALL)." . _:50602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22965; "environmental exposures"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Australia, Aus-ALL [13,64,67] Telethon Institute for Child Health Research (Milne E.; Armstrong B.) 2003–2007 Case–control study; Frequency matching Hospitals (nationwide) Age 0–14 yrs; Incident ALL; No previous cancer; Biological mother available and at least one parent speaks English; Resident in Australia RDD Age 0–14 yrs; Biological mother available and at least one parent speaks English; Resident in Australia Questionnaire E, G, GxE" . _:50612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3652629/"; rdfs:comment "Australia, Aus-ALL 393 393 349 37 0 1249 Blood; Buccal cells ✓ ✓ ✓ ✓ ✓ ✓" . _:50622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19839053"; "Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring."; "PMID:19839053", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19839053+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Australian Study of Causes of Acute Lymphoblastic Leukemia in Children (Aus-ALL) was designed to test the hypothesis, raised by a previous Western Australian study, that maternal folic acid supplementation during pregnancy might reduce the risk of childhood acute lymphoblastic leukemia (ALL)." . _:50632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A national, population-based multicentre case-control study in Australia that recruited children younger than 15 years with newly diagnosed acute lymphoblastic leukemia and population controls during 2003–2007. Cases were recruited through hospitals and controls through random-digit dialing, with questionnaire information and biospecimens from children and parents used to investigate environmental and genetic causes, including maternal folate supplementation and gene–environment interactions."; "PMID:19839053", "PMID:23403126"; "GPT-6 (OpenAI), 2026-09" . _:50642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 416; "Prospectively recruited Aus-ALL cases and controls reported in its own national study paper, PMID:19839053. (2003–2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19839053+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Aus-ALL was a national, population-based, multicenter case-control study that prospectively recruited 416 cases and 1,361 controls between 2003 and 2007." . _:50652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1361; "Prospectively recruited Aus-ALL cases and controls reported in its own national study paper, PMID:19839053. (2003–2007)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A19839053+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Aus-ALL was a national, population-based, multicenter case-control study that prospectively recruited 416 cases and 1,361 controls between 2003 and 2007." . _:50662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AUS-ALL"; . _:50672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aus-ALL"; . _:50682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Aus–ALL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid22975; , , , , , , , ; , , , , , , , , , , , , , , ; "PMID:25174022"; "An international consortium that facilitates collaboration among epidemiologic studies of lymphoma and pools individual-level data from lymphoid malignancy case-control studies to investigate lymphoma etiology and subtype-specific risk factors, including associations with rare exposures and less common lymphoma subtypes."; 17471; 23096; "InterLymph", "InterLymph Consortium", "InterLymph consortium"; rdfs:label "International Lymphoma Epidemiology Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid22975 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid22975; "lymphoma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC1852242/"; rdfs:comment "InterLymph was established in 2000 as a voluntary consortium that facilitates collaboration among epidemiologic studies of lymphoma (http://epi.grants.cancer.gov/InterLymph)." . _:506a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "UCSF2|| San Francisco, California (US) 2001–2006 Population-based 70 68 487 457" . _:506b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "SCALE (61)‡ Denmark; Sweden 1999–2002 Population-based 81 71 3055 3187" . _:506c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "British Columbia (43) Vancouver, Victoria, British Columbia (Canada) 2000–2004 Population-based 79 46 833 845" . _:506d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "United Kingdom (62)‡,§ Lancashire/South Lakeland, South England, Yorkshire (United Kingdom) 1998–2001 Population-based 75 71 828 1139" . _:506e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "Engela (55)‡,§ Bordeaux, Brest, Caen, Lille, Nantes, Toulouse (France) 2000–2004 Hospital-based 97 93 567 722" . _:506f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "EpiLymph (56)‡,§ Spain; France; Germany; Italy; Ireland; Czech Republic 1998–2004 Population-based (Italy, Germany), otherwise hospital-based 82–93 44–96 1735 2460" . _:50702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "NCI-SEER (49) Detroit, Michigan; Iowa; Los Angeles, California; Seattle, Washington (US) 1998–2000 Population-based 76 52 1316 1055" . _:50712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "New South Wales (63) New South Wales, Australian Capital Territory (Australia) 2000–2001 Population-based 85 61 694 694" . _:50722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "New South Wales (63) New South Wales, Australian Capital Territory (Australia) 2000–2001 Population-based 85 61 694 694" . _:50732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "British Columbia (43) Vancouver, Victoria, British Columbia (Canada) 2000–2004 Population-based 79 46 833 845" . _:50742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "EpiLymph (56)‡,§ Spain; France; Germany; Italy; Ireland; Czech Republic 1998–2004 Population-based (Italy, Germany), otherwise hospital-based 82–93 44–96 1735 2460" . _:50752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "SCALE (61)‡ Denmark; Sweden 1999–2002 Population-based 81 71 3055 3187" . _:50762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "Engela (55)‡,§ Bordeaux, Brest, Caen, Lille, Nantes, Toulouse (France) 2000–2004 Hospital-based 97 93 567 722" . _:50772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "EpiLymph (56)‡,§ Spain; France; Germany; Italy; Ireland; Czech Republic 1998–2004 Population-based (Italy, Germany), otherwise hospital-based 82–93 44–96 1735 2460" . _:50782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "EpiLymph (56)‡,§ Spain; France; Germany; Italy; Ireland; Czech Republic 1998–2004 Population-based (Italy, Germany), otherwise hospital-based 82–93 44–96 1735 2460" . _:50792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "EpiLymph (56)‡,§ Spain; France; Germany; Italy; Ireland; Czech Republic 1998–2004 Population-based (Italy, Germany), otherwise hospital-based 82–93 44–96 1735 2460" . _:507a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "EpiLymph (56)‡,§ Spain; France; Germany; Italy; Ireland; Czech Republic 1998–2004 Population-based (Italy, Germany), otherwise hospital-based 82–93 44–96 1735 2460" . _:507b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "SCALE (61)‡ Denmark; Sweden 1999–2002 Population-based 81 71 3055 3187" . _:507c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "United Kingdom (62)‡,§ Lancashire/South Lakeland, South England, Yorkshire (United Kingdom) 1998–2001 Population-based 75 71 828 1139" . _:507d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "NCI-SEER (49) Detroit, Michigan; Iowa; Los Angeles, California; Seattle, Washington (US) 1998–2000 Population-based 76 52 1316 1055" . _:507e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:25174022"; "Rationale and Design of the International Lymphoma Epidemiology Consortium (InterLymph) Non-Hodgkin Lymphoma Subtypes Project."; "PMID:25174022", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "The International Lymphoma Epidemiology Consortium therefore undertook the NHL Subtypes Project, an international collaborative effort to investigate the etiologies of NHL subtypes." . _:507f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that facilitates collaboration among epidemiologic studies of lymphoma and pools individual-level data from lymphoid malignancy case-control studies to investigate lymphoma etiology and subtype-specific risk factors, including associations with rare exposures and less common lymphoma subtypes."; "PMID:17185468", "PMID:25174022", "PMID:26340796"; "GPT-6 (OpenAI), 2026-09" . _:50802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 17471; "Cases and controls in the InterLymph NHL Subtypes Project pooled dataset from 20 case-control studies, reported in the 2014 design paper; not total consortium enrollment."; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "We pooled individual-level data from 20 case-control studies (17471 NHL cases, 23096 controls) from North America, Europe, and Australia." . _:50812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 23096; "Cases and controls in the InterLymph NHL Subtypes Project pooled dataset from 20 case-control studies, reported in the 2014 design paper; not total consortium enrollment."; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4155460/"; rdfs:comment "We pooled individual-level data from 20 case-control studies (17471 NHL cases, 23096 controls) from North America, Europe, and Australia." . _:50822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "InterLymph"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23002; ; "PMID:23321510"; "A randomized multicentre trial cohort of patients aged 16–75 years with newly diagnosed, biopsy-proven, early-stage Hodgkin lymphoma without adverse risk factors, assembled by the German Hodgkin Study Group to compare two or four cycles of ABVD chemotherapy followed by involved-field radiotherapy at 20 or 30 Gy."; 1370; "HD10", "HD10 study"; rdfs:label "HD10 trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23002 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23002; "Hodgkin's lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20818855+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 1370 patients with newly diagnosed early-stage Hodgkin's lymphoma with a favorable prognosis to one of four treatment groups" . _:50842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23321510"; "Sexual quality of life in Hodgkin Lymphoma: a longitudinal analysis by the German Hodgkin Study Group."; "PMID:23321510", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3553532/"; rdfs:comment "In the HD10 study for early stages (CS I, II without risk factors) patients were randomized to receive 2 or 4 cycles of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) followed by either 30 Gy or 20 Gy involved-field (IF) radiotherapy" . _:50852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized multicentre trial cohort of patients aged 16–75 years with newly diagnosed, biopsy-proven, early-stage Hodgkin lymphoma without adverse risk factors, assembled by the German Hodgkin Study Group to compare two or four cycles of ABVD chemotherapy followed by involved-field radiotherapy at 20 or 30 Gy."; "PMID:20818855", "PMID:23321510"; "GPT-6 (OpenAI), 2026-09" . _:50862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1370; "Patients randomized in the original HD10 trial"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20818855+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We randomly assigned 1370 patients with newly diagnosed early-stage Hodgkin's lymphoma with a favorable prognosis to one of four treatment groups" . _:50872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HD10"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23008; ; "PMID:23321510"; "A randomized multicentre trial cohort of patients aged 16–75 years with newly diagnosed, biopsy-proven, early unfavorable Hodgkin lymphoma, assembled by the German Hodgkin Study Group to compare four cycles of ABVD with four cycles of baseline-dose BEACOPP chemotherapy, each followed by involved-field radiotherapy at 20 or 30 Gy."; 1422; "German Hodgkin Study Group HD11 trial", "HD11"; rdfs:label "HD11 trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23008 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23008; "Hodgkin's lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A20713848+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Patients age 16 to 75 years with newly diagnosed early unfavorable HL were randomly assigned in a 2 × 2 factorial design" . _:50892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:23321510"; "Sexual quality of life in Hodgkin Lymphoma: a longitudinal analysis by the German Hodgkin Study Group."; "PMID:23321510", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3553532/"; rdfs:comment "Stage I or II patients with risk factors and stage IIB patients with elevated erythrocyte sedimentation rate and/or involvement of >2 lymph node areas were enroled into the HD11 trial" . _:508a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized multicentre trial cohort of patients aged 16–75 years with newly diagnosed, biopsy-proven, early unfavorable Hodgkin lymphoma, assembled by the German Hodgkin Study Group to compare four cycles of ABVD with four cycles of baseline-dose BEACOPP chemotherapy, each followed by involved-field radiotherapy at 20 or 30 Gy."; "PMID:20713848", "PMID:23321510"; "GPT-6 (OpenAI), 2026-09" . _:508b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1422; "HD11 trial patients forming the denominator of the original radiotherapy quality-assurance analysis; the primary final treatment analysis includes 1395 (1999–2006 quality-review period; not asserted as enrollment interval)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18234433+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between 1999 and 2006 a total of 825 of 1370 randomized patients of the HD10 trial (60%) and 954 of 1422 patients of the HD11 trial (67%) were evaluated by the panel." . _:508c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HD11"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23014; ; "PMID:21990399"; "A randomized multicentre trial cohort of patients aged 16–65 years with newly diagnosed, histologically confirmed, advanced-stage Hodgkin lymphoma, enrolled by the German Hodgkin Study Group from January 1999 to January 2003 to compare eight cycles of escalated-dose BEACOPP with four escalated-dose followed by four baseline-dose cycles, and to compare consolidation radiotherapy with no radiotherapy for initial bulky or residual disease."; 1670; "HD12", "HD12 study", "HD12 trial of the German Hodgkin Study Group"; rdfs:label "HD12 trial"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23014 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:508d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23014; "Hodgkin's lymphoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30290903+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In HD12 (Jan 4, 1999, to Jan 13, 2003; registered with ClinicalTrials.gov [NCT00265031]), 1670 patients with newly diagnosed, histology-proven, advanced-stage Hodgkin's lymphoma received eight cycles of eBEACOPP or four cycles of eBEACOPP plus four cycles of bBEACOPP (4 + 4), plus consolidation radiotherapy to initial bulk and residual disease or no radiotherapy, to analyse two non-inferiority objectives." . _:508e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:21990399"; "Eight cycles of escalated-dose BEACOPP compared with four cycles of escalated-dose BEACOPP followed by four cycles of baseline-dose BEACOPP with or without radiotherapy in patients with advanced-stage hodgkin's lymphoma: final analysis of the HD12 trial of the German Hodgkin Study Group."; "PMID:21990399", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21990399+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between January 1999 and January 2003, 1,670 patients age 16 to 65 years were enrolled onto the HD12 study." . _:508f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomized multicentre trial cohort of patients aged 16–65 years with newly diagnosed, histologically confirmed, advanced-stage Hodgkin lymphoma, enrolled by the German Hodgkin Study Group from January 1999 to January 2003 to compare eight cycles of escalated-dose BEACOPP with four escalated-dose followed by four baseline-dose cycles, and to compare consolidation radiotherapy with no radiotherapy for initial bulky or residual disease."; "PMID:21990399", "PMID:23321510", "PMID:30290903"; "GPT-6 (OpenAI), 2026-09" . _:50902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1670; "Patients enrolled in the HD12 trial, as reported by the original final analysis and long-term trial follow-up (January 1999–January 2003)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A21990399+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between January 1999 and January 2003, 1,670 patients age 16 to 65 years were enrolled onto the HD12 study." . _:50912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HD12"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23020, _:genid-371333f489424440b12a13b9d98ced822608-genid23022; , , , , , , , , ; , , , , , , , , , , , , , ; "PMID:19706757"; "An international consortium formed in 2005 that pools comparable data from independent bladder cancer studies to investigate environmental and genetic risk factors and their interactions. Its collaborative analyses combine case-control and case-only data, including investigations of DNA repair gene variation and cigarette smoking in bladder cancer susceptibility."; 6348; 6752; "ICBC"; rdfs:label "International Consortium of Bladder Cancer"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23020 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23022 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23020; "bladder cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "Specifically, we report findings on the associations between bladder cancer risk and each SNP and their interactions with cigarette smoking." . _:50932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23022; "environmental exposures"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "The International Consortium of Bladder Cancer (ICBC; http://dceg.cancer.gov/icbc/) was formed in 2005 to facilitate the pooling of comparable data on environmental and genetic risk factors across studies in order to overcome the limited statistical power of individual studies." . _:50942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "SBCS Spanish Bladder Cancer Study 1149 1170 87 Spain: hospital-based (10)" . _:50952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "BBCS Brescia Bladder Cancer Study 214 200 100 Italy: hospital-based (32, 33)" . _:50962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based NA" . _:50972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "LABCS Los Angeles Bladder Cancer Study 676 581 78 USA: population-based (37)" . _:50982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "HBCS Houston Bladder Cancer Study 849 901 79 USA: hospital-based (35, 36)" . _:50992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "NCBCS North Carolina Bladder Cancer Study 215 245 77 USA: hospital-based (41–44)" . _:509a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "EEBCS Eastern European Bladder Cancer Study3 540 214 83 Hungary, Romania, Slovakia: hospital-based (34)" . _:509b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "LBCS Leeds Bladder Cancer Study 800 771 71 UK: hospital-based (20, 38–40)" . _:509c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "TBCS Torino Bladder Cancer Study 401 379 100 Italy: hospital-based (48)" . _:509d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "SHBCS Shanghai Bladder Cancer Study 535 541 78 China: population-based NA" . _:509e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "FBCS French Bladder Cancer Study 316 190 84 France: hospital-based NA" . _:509f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "EEBCS Eastern European Bladder Cancer Study3 540 214 83 Hungary, Romania, Slovakia: hospital-based (34)" . _:50a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "BBCS Brescia Bladder Cancer Study 214 200 100 Italy: hospital-based (32, 33)" . _:50a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "EEBCS Eastern European Bladder Cancer Study3 540 214 83 Hungary, Romania, Slovakia: hospital-based (34)" . _:50a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "EEBCS Eastern European Bladder Cancer Study3 540 214 83 Hungary, Romania, Slovakia: hospital-based (34)" . _:50a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "SBCS Spanish Bladder Cancer Study 1149 1170 87 Spain: hospital-based (10)" . _:50a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "SSBCS Stockholm Bladder Cancer Study N/A 311 65 Sweden: hospital-based (47)" . _:50a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "LBCS Leeds Bladder Cancer Study 800 771 71 UK: hospital-based (20, 38–40)" . _:50a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "HBCS Houston Bladder Cancer Study 849 901 79 USA: hospital-based (35, 36)" . _:50a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:19706757"; "Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer."; "PMID:19706757", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "In this study we present results from meta- and pooled analyses conducted as part of the International Consortium of Bladder Cancer." . _:50a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium formed in 2005 that pools comparable data from independent bladder cancer studies to investigate environmental and genetic risk factors and their interactions. Its collaborative analyses combine case-control and case-only data, including investigations of DNA repair gene variation and cigarette smoking in bladder cancer susceptibility."; "PMID:19706757"; "GPT-6 (OpenAI), 2026-09" . _:50a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6348; "Case and control data contributed by the twelve case-control studies and one case-only study in the 2009 ICBC DNA repair analysis, before restricting to non-Latino white origin; not a lifetime unique consortium enrollment total."; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "Twelve studies contributed case-control data and one study provided case-only data, to the ICBC, for a total of 6,348 cases and 6,752 controls (Table 1)." . _:50aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6752; "Case and control data contributed by the twelve case-control studies and one case-only study in the 2009 ICBC DNA repair analysis, before restricting to non-Latino white origin; not a lifetime unique consortium enrollment total."; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2782435/"; rdfs:comment "Twelve studies contributed case-control data and one study provided case-only data, to the ICBC, for a total of 6,348 cases and 6,752 controls (Table 1)." . _:50ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ICBC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23048; , , ; ; "PGS000050", "PMID:31066241"; "A hospital-based case-control study of breast cancer in Thai women in Thailand, initially recruiting women with newly diagnosed, histologically confirmed breast cancer at the National Cancer Institute in Bangkok and Khon Kaen Hospital during May 2002–March 2004, with controls randomly selected among healthy women visiting patients at the same hospitals for diseases other than breast or ovarian cancer, to investigate breast cancer susceptibility, including variation in DNA repair genes."; "The acronym TBCS also denotes Torino Bladder Cancer Study (COHO:0002440); this term is IARC-Thai Breast Cancer Study."@en; 554; 572; "IARC-Thai Breast Cancer", "IARC‐Thai Breast Cancer Study", "TBCS"; ; rdfs:label "IARC-Thai Breast Cancer Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23048 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23048; "breast cancer"; "https://link.springer.com/article/10.1007/s10549-007-9773-7"; rdfs:comment "Cases were all new incident breast cancer patients histologically diagnosed at the National Cancer Institute in Bangkok and at the hospital in Khon Kaen province of North Eastern of Thailand during the period of May 2002 to March 2004 [21], with a participation rate of 99.6% (554/556)." . _:50ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC6565553/"; rdfs:comment "TBCS IARC‐Thai Breast Cancer Study Hospital‐based case‐control study Thailand 138 253 6.9 11.7 — — — —" . _:50ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PGS000050"; "Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry."; "PMID:27931260" . _:50af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31066241"; "The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium."; "PMID:31066241", "https://pmc.ncbi.nlm.nih.gov/articles/PMC6565553/"; rdfs:comment "TBCS IARC‐Thai Breast Cancer Study Hospital‐based case‐control study Thailand 138 253 6.9 11.7 — — — —" . _:50b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of breast cancer in Thai women in Thailand, initially recruiting women with newly diagnosed, histologically confirmed breast cancer at the National Cancer Institute in Bangkok and Khon Kaen Hospital during May 2002–March 2004, with controls randomly selected among healthy women visiting patients at the same hospitals for diseases other than breast or ovarian cancer, to investigate breast cancer susceptibility, including variation in DNA repair genes."; "PMID:17922186", "PMID:23535729", "PMID:27931260", "PMID:31066241"; "GPT-6 (OpenAI), 2026-09" . _:50b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 554; "Participants in the original May2002–March2004 hospital case-control recruitment; the own methods explicitly report participation as554/556 eligible cases and572/579 invited control visitors. These are the reported numerators, not calculated values."; "https://link.springer.com/article/10.1007/s10549-007-9773-7"; rdfs:comment "Cases were all new incident breast cancer patients histologically diagnosed at the National Cancer Institute in Bangkok and at the hospital in Khon Kaen province of North Eastern of Thailand during the period of May 2002 to March 2004 [21], with a participation rate of 99.6% (554/556)." . _:50b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 572; "Participants in the original May2002–March2004 hospital case-control recruitment; the own methods explicitly report participation as554/556 eligible cases and572/579 invited control visitors. These are the reported numerators, not calculated values."; "https://link.springer.com/article/10.1007/s10549-007-9773-7"; rdfs:comment "The participation rate among visitors who were asked to participate was 98.7% (572/579)." . _:50b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TBCS"; . a owl:NamedIndividual, ; , , , , , , , , , , , , , , , , , , , ; , , , , , , , , , , , , ; "PMID:20418888"; "A European research consortium that provides infrastructure to combine large population study samples and datasets across populations of European origin for genetic and genomic epidemiology, conducting genome-wide association meta-analyses of complex traits, including serum lipid levels and smoking behavior, using data from participating population cohorts, twin cohorts and clinical collections."; "The acronym ENGAGE also denotes ENGAGE AF-TIMI 48 (COHO:0000061); this term is European Network for Genetic And Genomic Epidemiology."@en; 46481; "ENGAGE", "ENGAGE Consortium", "ENGAGE consortium", "European Network for Genetic and Genomic Epidemiology", "European Network of Genetic and Genomic Epidemiology"; rdfs:label "European Network for Genetic And Genomic Epidemiology"@en . _:50b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "ATR, Australian twin registry Illumina 318K Australia" . _:50b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "ERF, Erasmus Ruchpen Family study Illumina 318K The Netherlands" . _:50b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE EGPUT 531 0.341 0.03±0.41 0.95 1" . _:50b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "FTC, Finnish twin cohort Illumina 318K Finland" . _:50b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "NTR, The Netherlands twin register Illumina 318K The Netherlands" . _:50b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "NSPHS, The Northern Swedish Population Health Study Illumina 318K Sweden" . _:50ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "ORCADES, The Orkney Complex Disease Study Illumina 318K Scotland" . _:50bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "Rotterdam Study Illumina 550K The Netherlands" . _:50bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "STR, Swedish twin registry Illumina 318K Sweden" . _:50bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE TwinUK 673 0.367 0.01±0.25 0.97 1" . _:50be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE WTCCC-CAD 1,235 0.392 -0.49±0.39 0.21 0.98" . _:50bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE deCODE 15,310 0.357 0.42±0.10 2.8·10-5 1" . _:50c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "NTRNESDA, The Netherlands Twin Register and The Netherlands Study of Depression and Anxiety Affymetrix 600K The Netherlands" . _:50c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3080600/"; rdfs:comment "One of the ENGAGE studies (GenMetS) had information on immune-reactive serum cotinine levels for a set of samples (N=485)20, that reflects the catalytic activity of the CYP2A and CYP2B gene products18." . _:50c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "Vis study Illumina 318K Croatia" . _:50c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "DK-TWIN, Danish twin registry Illumina 318K Denmark" . _:50c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE Sorbs 321 0.406 0.08±0.51 0.88 0.99" . _:50c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "MICROS, The genetic study of three population microisolates in South Tyrol Illumina 318K Italy" . _:50c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "NFBC1966, Northern Finnish Birth Cohort of 1966 Illumina 370K Finland" . _:50c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "rs215605 7 32303490 ENGAGE NL-BLC 2,971 0.376 0.90±0.25 0.00041 1" . _:50c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "ATR, Australian twin registry Illumina 318K Australia" . _:50c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "Vis study Illumina 318K Croatia" . _:50ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "DK-TWIN, Danish twin registry Illumina 318K Denmark" . _:50cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "The Estonian cohort is from the population-based biobank of the Estonian Genome Project of University of Tartu (EGPUT)." . _:50cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "FTC, Finnish twin cohort Illumina 318K Finland" . _:50cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "Briefly, KORA S4 and KORA F3 epidemiological cohorts represent independent samples of unrelated subjects from the general population from the Augsburg Area (Southern Germany)." . _:50ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fng.573/MediaObjects/41588_2010_BFng573_MOESM34_ESM.pdf"; rdfs:comment "All Icelandic subjects in the study of smoking-related phenotypes, including Icelandic population controls, were originally recruited for different genetic studies conducted over 13 years (1996–2009) at deCODE Genetics, and information on the number of cigarettes smoked per day was available from questionnaires." . _:50cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "MICROS, The genetic study of three population microisolates in South Tyrol Illumina 318K Italy" . _:50d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "ERF, Erasmus Ruchpen Family study Illumina 318K The Netherlands" . _:50d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "NSPHS, The Northern Swedish Population Health Study Illumina 318K Sweden" . _:50d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2687074/"; rdfs:comment "ORCADES, The Orkney Complex Disease Study Illumina 318K Scotland" . _:50d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20418888"; "Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior."; "PMID:20418888", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3080600/"; rdfs:comment "We conducted genome-wide association (GWA) meta-analyses of smoking data within the ENGAGE consortium to search for common alleles associating with the number of cigarettes smoked per day (CPD) in smokers (N=31,266) and smoking initiation (N=46,481)." . _:50d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A European research consortium that provides infrastructure to combine large population study samples and datasets across populations of European origin for genetic and genomic epidemiology, conducting genome-wide association meta-analyses of complex traits, including serum lipid levels and smoking behavior, using data from participating population cohorts, twin cohorts and clinical collections."; "PMID:19060911", "PMID:20418888", "PMID:30887376"; "GPT-6 (OpenAI), 2026-09" . _:50d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 46481; "Participants in the ENGAGE smoking-initiation genome-wide association meta-analysis reported in PMID20418888, not total unique participants across the whole ENGAGE consortium. (2010)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3080600/"; rdfs:comment "We conducted genome-wide association (GWA) meta-analyses of smoking data within the ENGAGE consortium to search for common alleles associating with the number of cigarettes smoked per day (CPD) in smokers (N=31,266) and smoking initiation (N=46,481)." . _:50d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ENGAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23092; , ; , , , , , , , ; "PMID:26656478"; "An international consortium that studies inherited susceptibility to glioma through a familial glioma study and the Glioma International Case-Control Study. It recruits families affected by multiple gliomas and coordinates multisite case-control recruitment, questionnaire data and biospecimen collection to investigate genetic risk and gene-environment interactions."; "The acronym GLIOGENE Consortium also denotes Gliogene study (COHO:0001812); this term is Genetic Epidemiology of Glioma International Consortium."@en, "The acronym GLIOGENE also denotes Gliogene study (COHO:0001812); this term is Genetic Epidemiology of Glioma International Consortium."@en; 4545; 4173; "GLIOGENE", "GLIOGENE Consortium", "Gliogene", "Gliogene Consortium"; rdfs:label "Genetic Epidemiology of Glioma International Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23092 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23092; "glioma"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "To examine the genetic factors underlying familial glioma, the Genetic Epidemiology of Glioma International Consortium (GLIOGENE Consortium) was formed in 2006 to recruit families affected by ≥2 cases of glioma from 14 institutions across 5 countries (12)." . _:50d82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "Here, we briefly describe the Glioma International Case-Control (GICC) Study (recruitment, 2010–2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen collection." . _:50d92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3615132/"; rdfs:comment "This study describes the demographic and clinical characteristics of the largest series of non-syndromic glioma families ascertained from 14 centres in the United States (US), Europe and Israel as part of the Gliogene Consortium." . _:50da2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC4874516/unicode"; rdfs:comment "Briefly, the GICC is an international consortium with 14 recruitment sites across five countries: Brigham and Women’s Hospital (MA, USA), Case Western Reserve University (Ohio, USA), Columbia University (NY, USA), Danish Cancer Society Research Centre (Copenhagen, Denmark), The Gertner Institute (Tel Hashomer, Israel), Duke University (NC, USA), University of Texas MD Anderson Cancer Center (TX, USA), Memorial Sloan Kettering Cancer Center (NY, USA), Mayo Clinic (MN, USA), NorthShore HealthSystem ( IL, USA), Umeå University (Umeå, Sweden), University of California, San Francisco (CA, USA), University of Southern California (CA, USA) and The Institute of Cancer Research (London, United Kingdom)." . _:50db2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26656478"; "The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium."; "PMID:26656478", "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "Here, we briefly describe the Glioma International Case-Control (GICC) Study (recruitment, 2010–2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen collection." . _:50dc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that studies inherited susceptibility to glioma through a familial glioma study and the Glioma International Case-Control Study. It recruits families affected by multiple gliomas and coordinates multisite case-control recruitment, questionnaire data and biospecimen collection to investigate genetic risk and gene-environment interactions."; "PMID:17855690", "PMID:23290425", "PMID:26656478"; "GPT-6 (OpenAI), 2026-09" . _:50dd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4545; "Cases and controls in the consortium’s GICC flagship case-control study, recruited 2010–2013 and reported in its original profile; not a combined family-plus-GICC consortium total"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "With 4,545 cases and 4,173 controls, the GICC Study confers the opportunity to evaluate both environmental exposures and genetic variation while accounting for tumor subtype." . _:50de2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4173; "Cases and controls in the consortium’s GICC flagship case-control study, recruited 2010–2013 and reported in its original profile; not a combined family-plus-GICC consortium total"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC4706682/"; rdfs:comment "With 4,545 cases and 4,173 controls, the GICC Study confers the opportunity to evaluate both environmental exposures and genetic variation while accounting for tumor subtype." . _:50df2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GLIOGENE"; . _:50e02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Gliogene"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23103, _:genid-371333f489424440b12a13b9d98ced822608-genid23105, _:genid-371333f489424440b12a13b9d98ced822608-genid23107, _:genid-371333f489424440b12a13b9d98ced822608-genid23109; , ; ; "PMID:22886559"; "A hospital-based case-control study of adults aged 18 or older with newly diagnosed primary glioma or other neuroepitheliomatous tumors, meningioma, or acoustic neuroma, and patients admitted for nonmalignant conditions, recruited at referral hospitals in Boston, Phoenix and Pittsburgh, United States, between June 1994 and August 1998. Controls were frequency-matched to the case series on age, sex, race or ethnicity, hospital and residential distance from the hospital. Interviews and biological samples support investigation of brain-tumor risk factors, including cellular-telephone use, occupational exposures and genetic susceptibility."; 782; 799; "NCI-BTS", "NCI_BTS"; rdfs:label "National Cancer Institute Adult Brain Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23103 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23105 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23107 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23109 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50e12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23103; "acoustic neuroma"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=11150357&retmode=xml"; rdfs:comment "We enrolled 782 patients through hospitals in Phoenix, Arizona; Boston; and Pittsburgh; 489 had histologically confirmed glioma, 197 had meningioma, and 96 had acoustic neuroma. The 799 controls were patients admitted to the same hospitals as the patients with brain tumors for a variety of nonmalignant conditions." . _:50e22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23105; "meningioma"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=11150357&retmode=xml"; rdfs:comment "We enrolled 782 patients through hospitals in Phoenix, Arizona; Boston; and Pittsburgh; 489 had histologically confirmed glioma, 197 had meningioma, and 96 had acoustic neuroma. The 799 controls were patients admitted to the same hospitals as the patients with brain tumors for a variety of nonmalignant conditions." . _:50e32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23107; "glioma"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=11150357&retmode=xml"; rdfs:comment "We enrolled 782 patients through hospitals in Phoenix, Arizona; Boston; and Pittsburgh; 489 had histologically confirmed glioma, 197 had meningioma, and 96 had acoustic neuroma. The 799 controls were patients admitted to the same hospitals as the patients with brain tumors for a variety of nonmalignant conditions." . _:50e42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23109; "use of hand-held cellular telephones"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=11150357&retmode=xml"; rdfs:comment "We examined the use of cellular telephones in a case-control study of intracranial tumors of the nervous system conducted between 1994 and 1998." . _:50e52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC3850418/"; rdfs:comment "489 glioma cases, 197 meningioma cases, and 799 controls were enrolled in a hospital-based case-control study conducted at three U.S. hospitals in Arizona, Massachusetts and Pennsylvania." . _:50e62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22886559"; "Genome-wide association study of glioma and meta-analysis."; "PMID:22886559", "https://pmc.ncbi.nlm.nih.gov/articles/PMC3761216/"; rdfs:comment "National Cancer Institute AdultBrain Study NCI-BTS Case-control Frequency-matched2:1 by hospital,age, sex, race,residential distancefrom hospital Illumina 660W 322 385 1994-1998 USA (AZ,MA, PA)" . _:50e72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A hospital-based case-control study of adults aged 18 or older with newly diagnosed primary glioma or other neuroepitheliomatous tumors, meningioma, or acoustic neuroma, and patients admitted for nonmalignant conditions, recruited at referral hospitals in Boston, Phoenix and Pittsburgh, United States, between June 1994 and August 1998. Controls were frequency-matched to the case series on age, sex, race or ethnicity, hospital and residential distance from the hospital. Interviews and biological samples support investigation of brain-tumor risk factors, including cellular-telephone use, occupational exposures and genetic susceptibility."; "PMID:11150357", "PMID:15494094", "PMID:19234232", "PMID:22864249", "PMID:22886559"; "GPT-6 (OpenAI), 2026-09" . _:50e82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 782; "Original hospital-based NCI brain-tumor study enrollment:782 tumor patients and799 nonmalignant hospital controls,1994–1998"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=11150357&retmode=xml"; rdfs:comment "We enrolled 782 patients through hospitals in Phoenix, Arizona; Boston; and Pittsburgh; 489 had histologically confirmed glioma, 197 had meningioma, and 96 had acoustic neuroma. The 799 controls were patients admitted to the same hospitals as the patients with brain tumors for a variety of nonmalignant conditions." . _:50e92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 799; "Original hospital-based NCI brain-tumor study enrollment:782 tumor patients and799 nonmalignant hospital controls,1994–1998"; "https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=11150357&retmode=xml"; rdfs:comment "We enrolled 782 patients through hospitals in Phoenix, Arizona; Boston; and Pittsburgh; 489 had histologically confirmed glioma, 197 had meningioma, and 96 had acoustic neuroma. The 799 controls were patients admitted to the same hospitals as the patients with brain tumors for a variety of nonmalignant conditions." . _:50ea2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI-BTS"; . _:50eb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NCI_BTS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23118, _:genid-371333f489424440b12a13b9d98ced822608-genid23120; , , ; , , , , , , , , , , , , , , , , ; "PMID:31792088"; "An international consortium that harmonizes risk-factor and prospective follow-up data on women carrying pathogenic BRCA1 or BRCA2 variants from the International BRCA1/2 Carrier Cohort Study, Breast Cancer Family Registry and kConFab. Participants are drawn from clinical genetics and population-based family studies to estimate breast, ovarian and contralateral breast cancer risks and investigate their genetic and non-genetic modifiers."; "The acronym BBCC also denotes Bavarian Breast Cancer Cases and Controls Study (COHO:0001058); this term is BRCA1 and BRCA2 Cohort Consortium."@en; 9845; "BBCC", "BRCA1 and BRCA2 cohort consortium", "The BRCA1 and BRCA2 Cohort Consortium"; rdfs:label "BRCA1 and BRCA2 Cohort Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23118 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23120 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:50ec2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23118; "breast cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Carriers of pathogenic variants (mutations) in the BRCA1 and BRCA2 genes are at very high risk of developing breast cancer (BC) and ovarian cancer." . _:50ed2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23120; "ovarian cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Carriers of pathogenic variants (mutations) in the BRCA1 and BRCA2 genes are at very high risk of developing breast cancer (BC) and ovarian cancer." . _:50ee2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/fullTextXML"; rdfs:comment "The BBCC included data from the International BRCA1/2 Carrier Cohort Study (IBCCS), Breast Cancer Family Registry (BCFR), and the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) (details in Supplementary material)." . _:50ef2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/fullTextXML"; rdfs:comment "The BBCC included data from the International BRCA1/2 Carrier Cohort Study (IBCCS), Breast Cancer Family Registry (BCFR), and the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) (details in Supplementary material)." . _:50f02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7521995/fullTextXML"; rdfs:comment "The BBCC included data from the International BRCA1/2 Carrier Cohort Study (IBCCS), Breast Cancer Family Registry (BCFR), and the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) (details in Supplementary material)." . _:50f12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50f22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50f32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Milan Italy (33), HSP (9), DKFZ (4), Belgium (3), Dusseldorf Germany (3)." . _:50f42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "The BCFR is a family cohort recruited from six sites from Australia, Canada and the USA." . _:50f52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "Additionally, where possible, passive follow-up by pathology (Denmark and Netherlands), cancer and death registry linkage (Denmark, Netherlands, Sweden and the United Kingdom)" . _:50f62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50f72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Milan Italy (33), HSP (9), DKFZ (4), Belgium (3), Dusseldorf Germany (3)." . _:50f82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Milan Italy (33), HSP (9), DKFZ (4), Belgium (3), Dusseldorf Germany (3)." . _:50f92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50fa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50fb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50fc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "Additionally, where possible, passive follow-up by pathology (Denmark and Netherlands), cancer and death registry linkage (Denmark, Netherlands, Sweden and the United Kingdom)" . _:50fd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "Sixty-six percent of the study participants were enrolled in one of the five ongoing nationwide studies in the United Kingdom and Ireland (Epidemiological Study of Familial Breast Cancer [EMBRACE]), France (Gene Etude Prospective Sein Ovaire [GENEPSO]), the Netherlands (Hereditary Breast and Ovarian cancer study Netherlands [HEBON]), Australia and New Zealand (kConFab) or Austria (Medical University of Vienna [MUV])." . _:50fe2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://media.springernature.com/original/springer-static/esm/art%3A10.1038%2Fs41436-020-0862-x/MediaObjects/41436_2020_862_MOESM1_ESM.pdf"; rdfs:comment "The BCFR is a family cohort recruited from six sites from Australia, Canada and the USA." . _:50ff2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:31792088"; "Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium."; "PMID:31792088", "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "The combined cohort (“The BRCA1 and BRCA2 Cohort Consortium”) included data from 21 centres in Western countries (supplemental Table 1S)." . _:51002 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An international consortium that harmonizes risk-factor and prospective follow-up data on women carrying pathogenic BRCA1 or BRCA2 variants from the International BRCA1/2 Carrier Cohort Study, Breast Cancer Family Registry and kConFab. Participants are drawn from clinical genetics and population-based family studies to estimate breast, ovarian and contralateral breast cancer risks and investigate their genetic and non-genetic modifiers."; "PMID:28632866", "PMID:31792088", "PMID:32665703"; "GPT-6 (OpenAI), 2026-09" . _:51012 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 9845; "Women with BRCA1 or BRCA2 pathogenic variants in the BBCC pooled dataset described by PMID31792088, after excluding 14 carriers of variants in both genes; includes women eligible for retrospective and/or prospective first-breast-cancer analyses. (2020)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC7611162/"; rdfs:comment "The total cohort enrolled 9,845 BRCA1 and BRCA2 mutation carriers aged 18-80 years (after excluding 14 carriers of a mutation in both genes) (19, 23)." . _:51022 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "BBCC"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23143, _:genid-371333f489424440b12a13b9d98ced822608-genid23145, _:genid-371333f489424440b12a13b9d98ced822608-genid23147; , ; ; "PMID:22762150"; "A French nationwide prospective cohort initiated in 2000 to estimate breast, ovarian and other cancer risks in women carrying pathogenic BRCA1 or BRCA2 variants and to assess lifestyle, environmental and genetic factors that modify these risks. Participants are recruited through family cancer clinics after genetic counseling and followed for primary or subsequent cancer, including women already diagnosed with cancer and those unaffected at enrollment."; 4925; "French National BRCA1 and BRCA2 mutations carrier cohort", "GENEPSO", "prospective cohort of BRCAx mutation carriers"; rdfs:label "Gene Etude Prospective Sein Ovaire"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23143 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23145 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23147 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51032 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23143; "breast cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3680948/fullTextXML"; rdfs:comment "The GENEPSO study was initiated in 2000 to estimate the risk of breast, ovarian, and other cancers in BRCA1 and BRCA2 mutation carriers and to assess potential risk-modifying factors, either lifestyle or genetic." . _:51042 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23145; "ovarian cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3680948/fullTextXML"; rdfs:comment "The GENEPSO study was initiated in 2000 to estimate the risk of breast, ovarian, and other cancers in BRCA1 and BRCA2 mutation carriers and to assess potential risk-modifying factors, either lifestyle or genetic." . _:51052 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23147; "environmental and lifestyle risk factors"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8320036/fullTextXML"; rdfs:comment "In the prospective cohort GENEPSO, which aims at assessing environmental and lifestyle risk factors, BRCA1/2 mutation carriers are followed over time to observe characteristics of subjects who are developing either primary or secondary cancer." . _:51062 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8320036/fullTextXML"; rdfs:comment "GEMO and GENEPSO provide an overview of a well-characterized sample of counseled Hereditary Breast and Ovarian Cancer (HBOC) families in France." . _:51072 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:22762150"; "Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO)."; "PMID:22762150", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3680948/fullTextXML"; rdfs:comment "We assessed variation in BC risk according to factors related to pregnancies by location of mutation in the homogeneous risk region of BRCA1 and BRCA2 in 990 women in the French study GENEPSO by using a weighted Cox regression model." . _:51082 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French nationwide prospective cohort initiated in 2000 to estimate breast, ovarian and other cancer risks in women carrying pathogenic BRCA1 or BRCA2 variants and to assess lifestyle, environmental and genetic factors that modify these risks. Participants are recruited through family cancer clinics after genetic counseling and followed for primary or subsequent cancer, including women already diagnosed with cancer and those unaffected at enrollment."; "PMID:22762150", "PMID:31948486", "PMID:34325649"; "GPT-6 (OpenAI), 2026-09" . _:51092 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 4925; "Participants enrolled in GENEPSO in the updated database as of December2019 (dataset2 of the record-linkage paper)."; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8320036/fullTextXML"; rdfs:comment "This optimal linkage method was then applied on the updated version (dataset 2) of the two studies as of December 2019. The updated version counted 6375 participants for GEMO (i.e. 1687 new participants), and 4925 participants for GENEPSO (i.e. 1586 new participants)." . _:510a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENEPSO"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23154; ; , ; "PMID:18930283"; "A nationwide clinical prostate cancer registry in Sweden, originating from a regional register established in 1987 and covering the country since 1998, that records newly diagnosed prostate cancer, diagnostic workup, tumour characteristics and primary treatment to support quality assurance, benchmarking and clinical research on care and outcomes."; "NPCR", "National Prostate Cancer Register"; rdfs:label "National Prostate Cancer Register of Sweden"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23154 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:510b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23154; "prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC12516312/"; rdfs:comment "The National Prostate Cancer Register (NPCR) of Sweden is a clinical cancer register with the aim of increasing the quality of care for men with prostate cancer by providing data to assess adherence to national guidelines [1, 2]." . _:510c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22561842+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Other health-care regions joined and since 1998 virtually all prostate cancer (PCa) cases are registered in the National Prostate Cancer Register (NPCR) of Sweden to provide data for quality assurance, bench marking and clinical research." . _:510d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:18930283"; "Surveillance and deferred treatment for localized prostate cancer. Population based study in the National Prostate Cancer Register of Sweden."; "PMID:18930283", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18930283+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In the National Prostate Cancer Register of Sweden, with a 98% coverage vs the compulsory Swedish Cancer Registry, we identified 8,304 incident cases of prostate cancer in 1997 to 2002 with age younger than 70 years, clinical local stage T1 or 2, N0 or Nx, M0 or Mx and serum prostate specific antigen less than 20 ng/ml." . _:510e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide clinical prostate cancer registry in Sweden, originating from a regional register established in 1987 and covering the country since 1998, that records newly diagnosed prostate cancer, diagnostic workup, tumour characteristics and primary treatment to support quality assurance, benchmarking and clinical research on care and outcomes."; "PMID:22561842", "PMID:41078339"; "GPT-6 (OpenAI), 2026-09" . _:510f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPCR"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23160; ; , ; ; "PMID:20562373"; "A nationwide retrospective observational cohort of men with localized prostate cancer selected from the National Prostate Cancer Register of Sweden, with registration from January 1997 to December 2002, beginning in January 1998 in one healthcare region. Participants were aged 70 years or younger at diagnosis, had clinical local tumour stage T1–T2 and serum prostate-specific antigen below 20 ng/mL, and had no recorded signs of lymph-node or bone metastasis (N0/Nx and M0/Mx). Medical-record review and linkage to national registers were used to assess management and outcomes."; 7960; "NPCR Follow-up Study", "NPCR of Sweden Follow-up Study"; rdfs:label "National Prostate Cancer Register of Sweden Follow-up Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23160 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51102 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23160; "localized prostate cancer"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2897875/"; rdfs:comment "The Follow-up Study was an observational study in the NPCR, with the aim of assessing outcome among patients with localized prostate cancer who were diagnosed after PSA testing had become prevalent in Sweden and for whom curative treatment may have been indicated." . _:51112 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2897875/"; rdfs:comment "Verification of eligibility, data on treatment, and the date that surveillance was terminated were extracted from medical records by research nurses in each of six health-care regions in Sweden at a median time of 4 years after the date of diagnosis." . _:51122 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2897875/"; rdfs:comment "The Follow-up Study was an observational study in the NPCR, with the aim of assessing outcome among patients with localized prostate cancer who were diagnosed after PSA testing had become prevalent in Sweden and for whom curative treatment may have been indicated." . _:51132 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:20562373"; "Outcomes in localized prostate cancer: National Prostate Cancer Register of Sweden follow-up study."; "PMID:20562373", "https://pmc.ncbi.nlm.nih.gov/articles/PMC2897875/"; rdfs:comment "In the National Prostate Cancer Register of Sweden Follow-up Study, a nationwide cohort, we identified 6849 patients aged 70 years or younger." . _:51142 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A nationwide retrospective observational cohort of men with localized prostate cancer selected from the National Prostate Cancer Register of Sweden, with registration from January 1997 to December 2002, beginning in January 1998 in one healthcare region. Participants were aged 70 years or younger at diagnosis, had clinical local tumour stage T1–T2 and serum prostate-specific antigen below 20 ng/mL, and had no recorded signs of lymph-node or bone metastasis (N0/Nx and M0/Mx). Medical-record review and linkage to national registers were used to assess management and outcomes."; "PMID:20562373", "PMID:31343436"; "GPT-6 (OpenAI), 2026-09" . _:51152 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7960; "Patients accepting inclusion in the original NPCR Follow-up Study, with diagnoses/registration 1997–2002; eligible frame8304. (1997–2002 diagnoses)"; "https://pmc.ncbi.nlm.nih.gov/articles/PMC2897875/"; rdfs:comment "In total, 8304 patients fulfilled these criteria and 7960 accepted inclusion to the study (Figure 1)." . _:51162 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPCR Follow-up Study"; . _:51172 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NPCR of Sweden Follow-up Study"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23169; , ; "MTBLS395"; "A registry of patients with acute myocardial infarction admitted to the coronary units of the six hospitals of the Florence health district, Italy, between April 2008 and April 2009, followed for survival after the infarction."; 1496; "AMI-Florence 2", "AMI-Florence 2 registry", "AMI-Florence II", "AMI-Florence II cohort", "acute myocardial infarction in Florence 2 registry"; ; rdfs:label "Florence Acute Myocardial Infarction-2 registry"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23169 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51182 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23169; "acute myocardial infarction"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A30616610+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "In total, 978 acute myocardial infarction patients were enrolled in this study; of these, 146 died and 832 survived during 2 years of follow-up after the acute myocardial infarction." . _:51192 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22777311+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared clinical features, hospital management and prognosis of STEMI/NSTEMI in an unselected cohort of 1,496 prospectively enrolled patients (STEMI, 36.9 % and NSTEMI, 63.1 %), admitted in 1 year to one of the six hospitals in Florence health district (Italy)." . _:511a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS395"; "NMR-based metabolomics identifies patients at high risk of death within two years after acute myocardial infarction in the AMI-Florence II cohort."; "PMID:30616610", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS395"; rdfs:comment "NMR-based metabolomics identifies patients at high risk of death within two years after acute myocardial infarction in the AMI-Florence II cohort" . _:511b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A registry of patients with acute myocardial infarction admitted to the coronary units of the six hospitals of the Florence health district, Italy, between April 2008 and April 2009, followed for survival after the infarction."; "PMID:30616610"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:511c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1496; "patients with acute myocardial infarction (STEMI or NSTEMI) prospectively enrolled over one year (2009)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22777311+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We compared clinical features, hospital management and prognosis of STEMI/NSTEMI in an unselected cohort of 1,496 prospectively enrolled patients (STEMI, 36.9 % and NSTEMI, 63.1 %), admitted in 1 year to one of the six hospitals in Florence health district (Italy)." . _:511d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMI-Florence 2"; . _:511e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "AMI-Florence II"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23177; , , ; "MTBLS2806"; "A collection of primary and recurrent glioma samples, with genomic data and patient follow-up, from patients treated at Beijing Tiantan Hospital and other hospitals in China, all re-diagnosed by independent neuropathologists and made available through a cross-omics data portal."; "CGGA", "CGGA cohort"; ; rdfs:label "Chinese Glioma Genome Atlas"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23177 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:511f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23177; "glioma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8498921/fullTextXML"; rdfs:comment "According to the pathological reassessment of independent neuropathologists, all the subjects were consistently diagnosed with glioma and were then further classified according to the 2007/2016 WHO classification system." . _:51202 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8498921/fullTextXML"; rdfs:comment "Glioma tissues and corresponding genomic data and patient follow-up information were obtained from Beijing Tiantan Hospital at Capital Medical University, Tianjin Medical University General Hospital, Sanbo Brain Hospital at Capital Medical University, the Second Affiliated Hospital of Harbin Medical University, the First Affiliated Hospital of Nanjing Medical University, and the First Hospital of China Medical University." . _:51212 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS2806"; "SNAP25 Inhibits Glioma Progression by Regulating Synapse Plasticity via GLS-Mediated Glutaminolysis."; "PMID:34490096", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS2806"; rdfs:comment "Cox proportional hazards regression analysis and survival analysis indicated that the candidate gene SNAP25 could differentiate the outcome of low- and high-risk patients, and the Chinese Glioma Genome Atlas (CGGA) cohort was used for validation of the data set." . _:51222 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of primary and recurrent glioma samples, with genomic data and patient follow-up, from patients treated at Beijing Tiantan Hospital and other hospitals in China, all re-diagnosed by independent neuropathologists and made available through a cross-omics data portal."; "PMID:33662628"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51232 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "CGGA"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23183; , ; "MTBLS205"; "A French national cohort of haematopoietic stem cell transplant recipients, and for some of them their donors, sampled before transplantation, at 100 days, one and two years afterwards and when graft-versus-host disease occurred, to study the complications of haematopoietic stem cell transplantation."; 5900; "CRYOSTEM Consortium", "CRYOSTEM cohort", "CRYOSTEM collection", "Cryostem biobank"; ; rdfs:label "CRYOSTEM"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23183 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51242 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23183; "Graft-versus-Host Disease"; "https://www.cryostem.org/en/about-cryostem/ethics-and-regulation/"; rdfs:comment "The initial objective of the constitution of the collection was to conduct research in the field of GvHD, being the major complication of HSCT. This research topic was broadened to all the complications of HSCT, after validation in March 2016 by the Committee of the Protection of Persons – CPP – South Mediterranean I." . _:51252 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6910937/fullTextXML"; rdfs:comment "Patients and their related donors analyzed in this study underwent an allogeneic HSCT in Saint Louis hospital, Paris, France (cohort 1, n = 43) or in one of the 33 French national transplant centers involved in CRYOSTEM Consortium, funded under the French Government’s National Investment Program (Investissement d’avenir) (cohort 2, n = 56)." . _:51262 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS205"; "Metabolomics analysis of human acute graft-versus-host disease reveals changes in host and microbiota-derived metabolites."; "PMID:31836702", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS205"; rdfs:comment "A first monocentric cohort from Saint Louis hospital (Paris, France) was used as an exploratory cohort (n=43) and a second multicentric national cohort from Cryostem biobank was used as a confimatory cohort (n=56).Metabolomic profile markedly differed between recipients and donors." . _:51272 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A French national cohort of haematopoietic stem cell transplant recipients, and for some of them their donors, sampled before transplantation, at 100 days, one and two years afterwards and when graft-versus-host disease occurred, to study the complications of haematopoietic stem cell transplantation."; "https://www.cryostem.org/en/about-cryostem/"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51282 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 5900; "transplant recipients sampled up to the end of collection on 31 December 2021 (the source says 'more than 5,900'), besides 2,400 donors"; "https://www.cryostem.org/en/about-cryostem/"; rdfs:comment "Today, this national collective has made it possible to constitute a collection rich in the biological resources of 82% of transplanted patients in France, i.e. nearly 200,000 biological samples taken pre- and post-transplant, from more than 5,900 patients and 2,400 donors (data as of December 31, 2021 – date of the end of collection)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23189; , , ; "MTBLS2394"; "A consortium formed in 1981 by the Dana-Farber Cancer Institute and other institutions in the United States and Canada that has conducted consecutive multi-institutional clinical trial protocols in childhood acute lymphoblastic leukaemia."; "DFCI ALL Consortium", "Dana Farber Cancer Institute ALL Consortium", "Dana-Farber Cancer Institute (DFCI) acute lymphoblastic leukemia (ALL) Consortium"; ; rdfs:label "Dana-Farber Cancer Institute ALL Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23189 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51292 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23189; "acute lymphoblastic leukemia"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2820141/unicode"; rdfs:comment "Between 1985–2000, 1457 children aged 0–18 years with newly diagnosed ALL (excluding mature B-cell ALL) were enrolled on four consecutive DFCI ALL Consortium protocols: 85-01 (1981–5, N=220), 87-01 (1987–91, N=369), 91-01 (1991–5, N=377) and 95-01 (1996–2000, N=491)." . _:512a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC2820141/unicode"; rdfs:comment "In 1981, DFCI and several other institutions in the United States and Canada formed the DFCI ALL Consortium." . _:512b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS2394"; "Impact of acute lymphoblastic leukemia induction therapy: findings from metabolomics on non-fasted plasma samples from a biorepository."; "PMID:34175981", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS2394"; rdfs:comment "Several chemotherapies intercept cancer metabolism, but little is known about their collective role in altering host metabolism.OBJECTIVES: We profiled the metabolomic changes in plasma of ALL patients initial- and post- induction therapy.METHODS: We exploited a biorepository of non-fasted plasma samples derived from the Dana Farber Cancer Institute ALL Consortium; these samples were obtained from 50 ALL patients initial- and post-induction therapy." . _:512c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium formed in 1981 by the Dana-Farber Cancer Institute and other institutions in the United States and Canada that has conducted consecutive multi-institutional clinical trial protocols in childhood acute lymphoblastic leukaemia."; "PMID:20016537"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:512d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DFCI ALL Consortium"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23195, _:genid-371333f489424440b12a13b9d98ced822608-genid23197; , , ; "MTBLS13213"; "A randomised, placebo-controlled, factorial trial of antimicrobials (azithromycin and nitazoxanide) and nicotinamide in children recruited within the first 14 days of life in rural Haydom, Tanzania, followed with their mothers through monthly home visits, with the child's length-for-age at 18 months as its primary outcome."; 1188; "ELICIT", "ELICIT trial", "Early Life Interventions for Childhood Growth and Development In Tanzania", "Early Life Interventions for Childhood growth and development in Tanzania"; ; rdfs:label "Early Life Interventions for Childhood Growth and Development in Tanzania"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23195 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23197 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:512e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23195; "stunting"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34582462+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Our goal was to test whether administration of scheduled antimicrobials and daily nicotinamide improved linear growth in a region with a high prevalence of stunting and enteric pathogen carriage." . _:512f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23197; "nicotinamide"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34582462+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Those randomized to nicotinamide arm received daily nicotinamide to the mother (250 mg pills months 0 to 6) and to the child (100 mg sachets months 6 to 18)." . _:51302 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6042604/fullTextXML"; rdfs:comment "Haydom is a rural area in north-central Tanzania, approximately 300 km west of Arusha, the nearest urban centre." . _:51312 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS13213"; "Birth season shapes the infant metabolome and development in Tanzania: a secondary explorative analysis of the early life interventions for childhood growth and development in Tanzania (ELICIT) trial."; "PMID:41390468", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS13213"; rdfs:comment "Birth season shapes the infant metabolome and development in Tanzania: a secondary explorative analysis of The Early Life Interventions for Childhood growth and development in Tanzania (ELICIT) trial" . _:51322 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised, placebo-controlled, factorial trial of antimicrobials (azithromycin and nitazoxanide) and nicotinamide in children recruited within the first 14 days of life in rural Haydom, Tanzania, followed with their mothers through monthly home visits, with the child's length-for-age at 18 months as its primary outcome."; "PMID:29982218"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51332 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1188; "children randomized between September 2017 and August 2018"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A34582462+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Between September 5, 2017 and August 31, 2018, 1,188 children were randomized, of whom 1,084 (n = 277 placebo/placebo, 273 antimicrobial/placebo, 274 placebo/nicotinamide, and 260 antimicrobial/nicotinamide) were included in the modified intention-to-treat analysis." . _:51342 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ELICIT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23204, _:genid-371333f489424440b12a13b9d98ced822608-genid23206; , ; "MTBLS690"; "A collection of pancreatic islets and of liver, muscle, fat and other tissues, with donor information and disease history, from organ donors, established in 2007 by Lund University and Uppsala University within the Excellence of Diabetes Research in Sweden (EXODIAB) collaboration."; 200; "EXODIAB", "EXODIAB biobank", "Excellence in Diabetes biobank", "HTL"; ; rdfs:label "Human Tissue Laboratory"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23204 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23206 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51352 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23204; "type 1 diabetes"; "https://www.ludc.lu.se/resources/human-tissue-laboratory"; rdfs:comment "HTL’s access to all tissues involved in diabetes from the same individuals allows the researchers to map the genetic and environmental factors that may cause type 1 diabetes and type 2 diabetes." . _:51362 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23206; "type 2 diabetes"; "https://www.ludc.lu.se/resources/human-tissue-laboratory"; rdfs:comment "HTL’s access to all tissues involved in diabetes from the same individuals allows the researchers to map the genetic and environmental factors that may cause type 1 diabetes and type 2 diabetes." . _:51372 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6609645/fullTextXML"; rdfs:comment "A collaborative initiative between the universities of Uppsala and Lund created the Human Tissue Laboratory (HTL) funded by a strategic grant from the Excellence of Diabetes Research in Sweden (EXODIAB). They have created a large biobank of tissue samples from deceased human multi-organ donors." . _:51382 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS690"; "Intra- and inter-individual metabolic profiling highlights carnitine and lysophosphatidylcholine pathways as key molecular defects in type 2 diabetes."; "PMID:31273253", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS690"; rdfs:comment "The samples originate from the Excellence in Diabetes biobank (EXODIAB) in Sweden." . _:51392 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A collection of pancreatic islets and of liver, muscle, fat and other tissues, with donor information and disease history, from organ donors, established in 2007 by Lund University and Uppsala University within the Excellence of Diabetes Research in Sweden (EXODIAB) collaboration."; "https://www.ludc.lu.se/resources/human-tissue-laboratory"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:513a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 200; "multi-organ donors in the biobank (the source says 'more than 200'), 2019"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6609645/fullTextXML"; rdfs:comment "The subjects were selected from a cohort of more than 200 multi-organ donors from the EXODIAB biobank with no statistical difference for age, body-mass index (BMI) and gender across the different phenotypes to accurately capture the metabolic fingerprint of T2D onset." . _:513b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "EXODIAB"; . _:513c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HTL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23214, _:genid-371333f489424440b12a13b9d98ced822608-genid23216; , ; "MTBLS198"; "A single-blind, parallel, randomised controlled dietary intervention trial in which men and women with low fruit and vegetable intake and at least a 1.5-fold increased risk of cardiovascular disease were assigned to high-flavonoid or low-flavonoid fruit and vegetables or to their habitual diet, to measure the dose-response relation with vascular function and other cardiovascular risk indicators."; 174; "FLAVURS", "FLAVURS trial"; ; rdfs:label "FLAVonoids: University of Reading Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23214 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23216 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:513d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23214; "cardiovascular disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22476876+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Participants with a CVD relative risk of 1.5 assessed by risk scores were randomly assigned to one of the 3 groups: habitual (control, CT), high-flavonoid (HF) or low-flavonoid (LF) diets." . _:513e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23216; "flavonoid-rich versus flavonoid-poor fruit and vegetables"; "https://www.isrctn.com/api/query/format/default?q=FLAVURS"; rdfs:comment "To determine the impact of different amounts and types (flavonoid-rich versus flavonoid-poor) of fruit and vegetables on heart disease risk factors in an 'at risk' group." . _:513f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24452238+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Hugh Sinclair Unit of Human Nutrition (ALM, TWG, MFC, DSA, YJ, AV, JPES, OBK, KMT, A-MM, MHG, and JAL), and the Institute for Cardiovascular and Metabolic Research, Department of Food and Nutritional Sciences (ALM and JAL), University of Reading, Reading, Berkshire, United Kingdom." . _:51402 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS198"; "Urinary metabolomic profiling to identify biomarkers of a flavonoid-rich and flavonoid-poor fruits and vegetables diet in adults: the FLAVURS trial"; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS198"; rdfs:comment "Urinary metabolomic profiling to identify biomarkers of a flavonoid-rich and flavonoid-poor fruits and vegetables diet in adults: the FLAVURS trial" . _:51412 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-blind, parallel, randomised controlled dietary intervention trial in which men and women with low fruit and vegetable intake and at least a 1.5-fold increased risk of cardiovascular disease were assigned to high-flavonoid or low-flavonoid fruit and vegetables or to their habitual diet, to measure the dose-response relation with vascular function and other cardiovascular risk indicators."; "PMID:24452238"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51422 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 174; "low fruit and vegetable consumers at increased cardiovascular risk randomly assigned"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A24452238+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "Male and female low-F&V consumers who had a ≥ 1.5-fold increased risk of CVD (n = 174) were randomly assigned to receive an HF F&V, an LF F&V, or a habitual diet, with HF and LF F&V amounts sequentially increasing by 2, 4, and 6 (+2, +4, and +6) portions/d every 6 wk over habitual intakes." . _:51432 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "FLAVURS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23223, _:genid-371333f489424440b12a13b9d98ced822608-genid23225, _:genid-371333f489424440b12a13b9d98ced822608-genid23227; , ; "MTBLS89"; "A study in which young healthy male volunteers underwent a highly controlled four-day challenge protocol of 36 hours of fasting, oral glucose and lipid tests, liquid test meals, physical exercise and cold stress, with blood, urine, exhaled air and breath condensate analysed at up to 56 time points, to analyse the dynamics of the human metabolome in response to environmental stimuli."; 15; "HuMet", "HuMet Repository", "HuMet study"; ; rdfs:label "Human Metabolome study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23223 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23225 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23227 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51442 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23223; "cold stress"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22426117+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To analyze the dynamics of the human metabolome in response to environmental stimuli, we submitted 15 young healthy male volunteers to a highly controlled 4 d challenge protocol, including 36 h fasting, oral glucose and lipid tests, liquid test meals, physical exercise, and cold stress." . _:51452 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23225; "36 h fasting"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22426117+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To analyze the dynamics of the human metabolome in response to environmental stimuli, we submitted 15 young healthy male volunteers to a highly controlled 4 d challenge protocol, including 36 h fasting, oral glucose and lipid tests, liquid test meals, physical exercise, and cold stress." . _:51462 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23227; "physical exercise"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22426117+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "To analyze the dynamics of the human metabolome in response to environmental stimuli, we submitted 15 young healthy male volunteers to a highly controlled 4 d challenge protocol, including 36 h fasting, oral glucose and lipid tests, liquid test meals, physical exercise, and cold stress." . _:51472 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC11513335/unicode"; rdfs:comment "The present work is based on samples of the Human Metabolome (HuMet) study conducted at the Human Study Center of the Else-Kröner-Fresenius Center of Nutritional Medicine at the Technical University Munich." . _:51482 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS89"; "The HuMet Repository: Watching human metabolism at work."; "PMID:39033506", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS89"; rdfs:comment "We present the HuMet Repository for exploring dynamic metabolic responses to oral glucose/lipid loads, mixed meals, 36-h fasting, exercise, and cold stress in healthy subjects." . _:51492 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study in which young healthy male volunteers underwent a highly controlled four-day challenge protocol of 36 hours of fasting, oral glucose and lipid tests, liquid test meals, physical exercise and cold stress, with blood, urine, exhaled air and breath condensate analysed at up to 56 time points, to analyse the dynamics of the human metabolome in response to environmental stimuli."; "PMID:22426117"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:514a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 15; "young healthy male participants"; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_json/PMC11513335/unicode"; rdfs:comment "Briefly, 15 healthy male participants were recruited for the study. Participants were young (mean age of 27.8 years ±2.9), had normal weight (mean body mass index (BMI) of 23.1 kg/m2 ± 1.8), did not take any medication, and did not show any metabolic abnormalities." . _:514b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HuMet"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23234; , ; "MTBLS850"; "A prospective longitudinal study of adults hospitalised with COVID-19 in the United States, launched in May 2020 by the National Institute of Allergy and Infectious Diseases, following their clinical course and immune responses through serial sampling."; 1164; "IMPACC", "IMPACC study", "IMmunoPhenotyping Assessment in a COVID-19 Cohort"; ; rdfs:label "Immunophenotyping Assessment in a COVID-19 Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23234 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:514c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23234; "COVID-19"; "https://clinicaltrials.gov/api/v2/studies/NCT04378777"; rdfs:comment "The study population consists of adult participants hospitalized with known or presumptive coronavirus disease 2019 (COVID-19), a human disease caused by Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) infection." . _:514d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10764789/fullTextXML"; rdfs:comment "Patients 18 years and older admitted to 20 US hospitals (affiliated with 15 academic institutions) between May 2020 and March 2021 were enrolled within 72 h of hospital admission for COVID-19 infection." . _:514e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS850"; "Features of acute COVID-19 associated with post-acute sequelae of SARS-CoV-2 phenotypes: results from the IMPACC study."; "PMID:38172101", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS850"; rdfs:comment "Features of acute COVID-19 associated with post-acute sequelae of SARS-CoV-2 phenotypes: results from the IMPACC study" . _:514f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective longitudinal study of adults hospitalised with COVID-19 in the United States, launched in May 2020 by the National Institute of Allergy and Infectious Diseases, following their clinical course and immune responses through serial sampling."; "PMID:34376480"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51502 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1164; "adults hospitalised with COVID-19 enrolled May 2020 to March 2021"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10764789/fullTextXML"; rdfs:comment "In all, 1164 participants were enrolled between May 5th, 2020 and March 19th, 2021 and followed up to 28 days while hospitalized." . _:51512 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IMPACC"; . a owl:NamedIndividual, ; , ; "MTBLS12705"; "A study of adult AARP members aged 50 to 74 years recruited from the Pittsburgh area, Pennsylvania, United States, in 2012 and followed for 12 months with repeated dietary, physical activity and biomarker measurements."; 1110; "IDATA", "IDATA Study"; ; rdfs:label "Interactive Diet and Activity Tracking in AARP Study"@en . _:51522 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12091781/fullTextXML"; rdfs:comment "In brief, IDATA participants were recruited from a list of AARP members, aged 50–74 years, who resided in or nearby Pittsburgh, Pennsylvania, spoke English, had internet access, were not on a weight-loss diet, and were free of major medical conditions and mobility limitations." . _:51532 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS12705"; "Identification and validation of poly-metabolite scores for diets high in ultra-processed food: An observational study and post-hoc randomized controlled crossover-feeding trial."; "PMID:40392756", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS12705"; rdfs:comment "We aimed to identify poly-metabolite scores in blood and urine that are predictive of UPF intake.METHODS AND FINDINGS: Of the 1082 Interactive Diet and Activity Tracking in AARP (IDATA) Study (clinicaltrials.gov ID NCT03268577) participants, aged 50-74 years, who provided biospecimen consent, n=718 with serially collected blood and urine and one to six 24-hour dietary recalls (ASA-24s), collected over 12-months, met eligibility criteria and were included in the metabolomics analysis." . _:51542 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study of adult AARP members aged 50 to 74 years recruited from the Pittsburgh area, Pennsylvania, United States, in 2012 and followed for 12 months with repeated dietary, physical activity and biomarker measurements."; "PMID:32819883"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51552 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1110; "adult AARP members aged 50 to 74 recruited (2012)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A32819883+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "From January through September 2012, 1,110 adult members of AARP, 50 to 74 years of age, were recruited from the Pittsburgh, PA, area to participate in the Interactive Diet and Activity Tracking in AARP (IDATA) study." . _:51562 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IDATA"; . a owl:NamedIndividual, ; , ; "MTBLS7389"; "A citizen-science cohort of women in Belgium who provided self-collected vaginal samples and completed extensive questionnaires, to characterise the vaginal microbiome and its associations with health, lifestyle and life-course events."; 3345; "Isala citizen-science project", "Isala program"; ; rdfs:label "Isala"@en . _:51572 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10627828/fullTextXML"; rdfs:comment "As only participants who understood Dutch were allowed to participate, most participants were from the Northern part of Belgium." . _:51582 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS7389"; "Riboflavin produced in the vagina by lactobacilli as symbiotic factor"; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS7389"; rdfs:comment "In this study, we analyzed the vaginal microbiome and metabolome of 258 healthy women from the Isala program." . _:51592 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A citizen-science cohort of women in Belgium who provided self-collected vaginal samples and completed extensive questionnaires, to characterise the vaginal microbiome and its associations with health, lifestyle and life-course events."; "PMID:37884815"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:515a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 3345; "women whose self-collected vaginal samples were analysed (of 6,007 who registered), 2020"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10627828/fullTextXML"; rdfs:comment "Here we established the Isala citizen-science project to analyse the vaginal microbiomes of 3,345 women in Belgium (18–98 years) through self-sampling, 16S amplicon sequencing and extensive questionnaires." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23250, _:genid-371333f489424440b12a13b9d98ced822608-genid23252, _:genid-371333f489424440b12a13b9d98ced822608-genid23254, _:genid-371333f489424440b12a13b9d98ced822608-genid23256, _:genid-371333f489424440b12a13b9d98ced822608-genid23258, _:genid-371333f489424440b12a13b9d98ced822608-genid23260, _:genid-371333f489424440b12a13b9d98ced822608-genid23262, _:genid-371333f489424440b12a13b9d98ced822608-genid23264, _:genid-371333f489424440b12a13b9d98ced822608-genid23266, _:genid-371333f489424440b12a13b9d98ced822608-genid23268; , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; "MTBLS9394"; "A biorepository of 7,808 people with cancer at one of eight anatomical sites, from 30 countries, whose tumour and non-tumour tissues, blood and harmonised demographic, lifestyle, environmental and clinical data were assembled between 2018 and 2022 under one protocol, to explain geographical and temporal differences in cancer incidence through mutational signature analysis."; 7808; "Mutographs biorepository", "Mutographs project"; ; rdfs:label "Mutographs"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23250 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23252 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23254 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23256 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23258 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23260 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23262 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23264 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23266 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23268 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:515b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23250; "urinary bladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:515c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23252; "gastroesophageal junction adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:515d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23254; "renal cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:515e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23256; "pancreatic ductal adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:515f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23258; "gallbladder cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:51602 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23260; "colorectal cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:51612 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23262; "esophageal squamous cell carcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:51622 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23264; "head and neck cancer"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Five initial cancer types, esophageal squamous cell carcinoma (ESCC), renal cell carcinoma (RCC), colorectal cancer (CRC), pancreatic ductal adenocarcinoma (PDAC), and gastroesophageal junction adenocarcinoma (GEJ), including both esophageal adenocarcinoma (EAD) and adenocarcinomas of gastric cardia, were selected based on the following criteria: (1) cancers with the highest differences in incidence across geographical regions, (2) cancers accounting for more than 10% of new cases and about 20% of deaths, and (3) cancers for which prevalence of known risk factors (i.e., smoking, alcohol, and obesity) do not fully explain the large geographical and temporal differences across regions (Figure 3)." . _:51632 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23266; "alcohol consumption"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "The following core epidemiological and clinical data were required from all participants in the study: (1) demographic details (age, sex, ethnic origin, city and place of residence, and educational status); (2) history of tobacco use, including frequency and intensity; (3) history of alcohol consumption, including frequency and intensity; (4) anthropometric data (height, weight at diagnosis); (5) medical history of diabetes, hypertension, and acid reflux/heartburn for PDAC, RCC, and GEJ, respectively; and (6) consumption of hot drinks (for ESCC) or red and processed meat (for CRC)." . _:51642 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23268; "tobacco use"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "The following core epidemiological and clinical data were required from all participants in the study: (1) demographic details (age, sex, ethnic origin, city and place of residence, and educational status); (2) history of tobacco use, including frequency and intensity; (3) history of alcohol consumption, including frequency and intensity; (4) anthropometric data (height, weight at diagnosis); (5) medical history of diabetes, hypertension, and acid reflux/heartburn for PDAC, RCC, and GEJ, respectively; and (6) consumption of hot drinks (for ESCC) or red and processed meat (for CRC)." . _:51652 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "White circles represent cities where cases were recruited: Argentina: Buenos Aires; Brazil: Barretos, Goiania, Porto Alegre, Rio de Janeiro, Sao Paulo, and Vitoria; Bulgaria: Sofia; Canada: Montreal and Toronto; China: Shanxi; Colombia: Bogotá; Croatia: Zagreb; Czech Republic: Brno, Ceske Budejovice, Olomouc, and Prague; Greece: Athens; Hungary: Budapest; India: Mumbai; Iran: Gonbad, Gorgan, Kerman, and Tehran; Italy: Aviano and Padova; Japan: Tokyo; Kenya: Eldoret; Lithuania: Vilnius; Malawi: Blantyre; Poland: Lodz and Warsaw; Romania: Bucharest; Russia: Moscow; Serbia: Belgrade; Slovakia: Banska Bystrica; South Africa: Cape Town; Tanzania: Moshi; Thailand: Bangkok, Chiang Mai, and Hat Yai; Ukraine: Kiev; UK: Cambridge and Leeds; and US: Rochester." . _:51662 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS9394"; "Geographic variation of mutagenic exposures in kidney cancer genomes."; "PMID:38693263", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS9394"; rdfs:comment "The results indicate the existence of multiple, geographically variable, mutagenic exposures potentially affecting 10s of millions of people and illustrate the opportunities for new insights into cancer causation through large-scale global cancer genomics.Linked cross omic data sets:Geographic variation of mutagenic exposures in kidney cancer genomes – patient metadata files (Mutographs) associated with this study are available in the European Genome-Phenome Archive: https://ega-archive.org/datasets/EGAD00001012223." . _:51672 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository of 7,808 people with cancer at one of eight anatomical sites, from 30 countries, whose tumour and non-tumour tissues, blood and harmonised demographic, lifestyle, environmental and clinical data were assembled between 2018 and 2022 under one protocol, to explain geographical and temporal differences in cancer incidence through mutational signature analysis."; "PMID:38325367"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51682 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 7808; "cancer cases with harmonised biospecimens and epidemiological data, 2018-2022"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10943582/fullTextXML"; rdfs:comment "Through this international network of 50 institutional collaborators in 30 countries, between 2018 and 2022, the Mutographs team harmonized biospecimen and epidemiologic data on 7,808 cancer cases." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23274; , , , ; "MTBLS9418"; "A cohort of patients with resected pancreatic ductal adenocarcinoma whose tumour tissues and clinical information were collected at the University of Maryland Medical System, Baltimore, United States, through a National Cancer Institute resource contract, and at the University Medical Center Göttingen, Germany."; ; rdfs:label "NCI-UMD-German cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23274 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51692 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23274; "pancreatic ductal adenocarcinoma"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10842852/fullTextXML"; rdfs:comment "Pancreatic tumor tissues from resected PDAC patients were collected at the University of Maryland Medical System (UMMS) in Baltimore, MD, through an NCI-UMD resource contract and at the University Medical Center Göttingen, Germany." . _:516a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10842852/fullTextXML"; rdfs:comment "Pancreatic tumor tissues from resected PDAC patients were collected at the University of Maryland Medical System (UMMS) in Baltimore, MD, through an NCI-UMD resource contract and at the University Medical Center Göttingen, Germany." . _:516b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS9418"; "ELAPOR1 induces the classical/progenitor subtype and contributes to reduced disease aggressiveness through metabolic reprogramming in pancreatic cancer."; "PMID:38630934", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS9418"; rdfs:comment "Using our integrated approach, we identified endosome-lysosome associated apoptosis and autophagy regulator 1 (ELAPOR1/KIAA1324) as a candidate tumor suppressor in both our NCI-UMD-German cohort and additional validation cohorts." . _:516c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of patients with resected pancreatic ductal adenocarcinoma whose tumour tissues and clinical information were collected at the University of Maryland Medical System, Baltimore, United States, through a National Cancer Institute resource contract, and at the University Medical Center Göttingen, Germany."; "PMID:37980563"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23279; , ; "MTBLS8812"; "A single-centre, randomised, placebo-controlled, double-blind phase I trial at Haukeland University Hospital, Bergen, Norway, in which people with Parkinson's disease received 1,500 mg of nicotinamide riboside twice daily or placebo for four weeks, to evaluate the safety of high-dose nicotinamide riboside."; 20; "NR-SAFE: a Safety Study Investigating Treatment With High-dose Nicotinamide Riboside (NR) in Parkinson's Disease"; ; rdfs:label "NR-SAFE"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23279 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:516d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23279; "Parkinson's disease"; "https://clinicaltrials.gov/api/v2/studies/NCT05344404"; rdfs:comment "NR-SAFE is a double-blinded randomized safety study aiming to determine the safety and tolerability of nicotinamide riboside (NR) at a daily dose of 3000mg, in individuals with Parkinson's disease (PD)." . _:516e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10684646/fullTextXML"; rdfs:comment "The trial was conducted at the Department of Neurology, Haukeland University Hospital, Bergen, Norway." . _:516f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS8812"; "NR-SAFE: a randomized, double-blind safety trial of high dose nicotinamide riboside in Parkinson's disease."; "PMID:38016950", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS8812"; rdfs:comment "NR-SAFE: a randomized, double-blind safety trial of high dose nicotinamide riboside in Parkinson's disease" . _:51702 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A single-centre, randomised, placebo-controlled, double-blind phase I trial at Haukeland University Hospital, Bergen, Norway, in which people with Parkinson's disease received 1,500 mg of nicotinamide riboside twice daily or placebo for four weeks, to evaluate the safety of high-dose nicotinamide riboside."; "PMID:38016950"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51712 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 20; "individuals with Parkinson's disease enrolled and randomised (2022)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10684646/fullTextXML"; rdfs:comment "In total, 26 individuals with PD were screened, and 20 eligible participants were enrolled, all of whom completed the study (Fig. 1)." . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23285; , ; "MTBLS4219"; "A prospective cohort of all preterm infants born before 29 weeks of gestational age and admitted to the neonatal intensive care unit of Dijon University Hospital, France, between July 2015 and January 2018, whose erythrocyte polyunsaturated fatty acids were measured shortly after birth to evaluate their value in predicting retinopathy of prematurity."; 58; "OMEGAROP", "Omega-ROP", "OmegaROP study", "Study of the Implication of Omega-3 Polyunsaturated Fatty Acids in Retinopathy of Prematurity in Newborns"; ; rdfs:label "OmegaROP"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23285 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51722 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23285; "retinopathy of prematurity"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6538605/fullTextXML"; rdfs:comment "Extremely preterm infants are at high risk for retinopathy of prematurity (ROP), a potentially blinding disease characterized by abnormalities in retinal vascularization." . _:51732 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6538605/fullTextXML"; rdfs:comment "From July 31st, 2015, to January 31st, 2018, all preterm infants born before 29 weeks GA and hospitalized in the neonatal intensive care unit of the Dijon University Hospital, Dijon, France, were included in the study." . _:51742 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS4219"; "Modification of erythrocyte membrane phospholipid composition in preterm newborns with retinopathy of prematurity: The omegaROP study."; "PMID:36158214", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS4219"; rdfs:comment "In the OmegaROP prospective cohort study, we showed that preterm infants who will develop ROP accumulate the n-6 PUFA arachidonic acid (ARA) at the expense of the n-3 PUFA docosahexaenoic acid (DHA) in erythrocytes with advancing gestational age (GA)." . _:51752 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of all preterm infants born before 29 weeks of gestational age and admitted to the neonatal intensive care unit of Dijon University Hospital, France, between July 2015 and January 2018, whose erythrocyte polyunsaturated fatty acids were measured shortly after birth to evaluate their value in predicting retinopathy of prematurity."; "PMID:31138879"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51762 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 58; "preterm infants born before 29 weeks of gestational age included (2018)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6538605/fullTextXML"; rdfs:comment "Fifty-eight preterm infants born before 29 weeks GA were included. Six infants died and the mortality rate was 11.5%. Blood samples were obtained from 52 infants at a median time of 12 h and a maximum time of 48 h after birth." . _:51772 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "OMEGAROP"; . _:51782 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "Omega-ROP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23293; ; , ; "MTBLS1497"; "A UK industry-academic precision medicine partnership, funded by the Medical Research Council and the Association of the British Pharmaceutical Industry, that recruited a cohort of patients with early rheumatoid arthritis and a cohort of healthy people receiving the hepatitis B vaccine, followed for up to 18 months with deep clinical and multi-omic phenotyping, to find predictors of disease outcome and treatment response."; "RA MRC/ABPI (RA-MAP) Consortium", "RA-MAP", "RA-MAP Project", "RA-MAP consortium"; ; rdfs:label "RA-MAP Consortium"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23293 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51792 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23293; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9085807/fullTextXML"; rdfs:comment "The “Towards A Cure for Early Rheumatoid Arthritis” (TACERA) study12 was designed to detect distinct disease subtypes and the immunological correlates of disease activity and autoimmunity in patients with early, seropositive RA, with a secondary objective to investigate biomarkers of initial drug response to methotrexate." . _:517a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8544781/fullTextXML"; rdfs:comment "a cohort of newly diagnosed seropositive RA patients – the ‘Towards A CurE for RA’ (TACERA) cohort – was established and followed frequently and deeply phenotyped." . _:517b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9085807/fullTextXML"; rdfs:comment "Subjects were recruited from 28 participating centres across the UK." . _:517c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS1497"; "RA-MAP: mapping the molecular immunological landscape in early rheumatoid arthritis with vaccine controls"; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS1497"; rdfs:comment "RA-MAP: mapping the molecular immunological landscape in early rheumatoid arthritis with vaccine controls" . _:517d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A UK industry-academic precision medicine partnership, funded by the Medical Research Council and the Association of the British Pharmaceutical Industry, that recruited a cohort of patients with early rheumatoid arthritis and a cohort of healthy people receiving the hepatitis B vaccine, followed for up to 18 months with deep clinical and multi-omic phenotyping, to find predictors of disease outcome and treatment response."; "PMID:35534493"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:517e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "RA-MAP"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23300; , ; ; "MTBLS1497"; "An inception cohort of newly diagnosed, initially treatment-naive patients with seropositive rheumatoid arthritis, recruited from 28 centres in the United Kingdom and assessed every three months for up to 18 months, established by the RA-MAP Consortium."; 275; "TACERA", "Towards A CurE for RA"; ; rdfs:label "Towards A Cure for Early Rheumatoid Arthritis"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23300 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:517f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23300; "rheumatoid arthritis"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8544781/fullTextXML"; rdfs:comment "Patients with early untreated seropositive RA were recruited from 28 UK centres." . _:51802 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8544781/fullTextXML"; rdfs:comment "Patients with early untreated seropositive RA were recruited from 28 UK centres." . _:51812 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS1497"; "RA-MAP: mapping the molecular immunological landscape in early rheumatoid arthritis with vaccine controls"; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS1497"; rdfs:comment "In the Towards A Cure for Early Rheumatoid Arthritis (TACERA) study, 239 out of 267 eligible patients, newly diagnosed with symptom duration less than 12 mth and untreated with DMARDs or corticosteroids, had a 6-mth assessment visit." . _:51822 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "An inception cohort of newly diagnosed, initially treatment-naive patients with seropositive rheumatoid arthritis, recruited from 28 centres in the United Kingdom and assessed every three months for up to 18 months, established by the RA-MAP Consortium."; "PMID:34707695"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51832 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 275; "patients enrolled, of whom 267 met full eligibility and provided baseline data"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8544781/fullTextXML"; rdfs:comment "We enrolled 275 patients of whom 267 met full eligibility and provided baseline data." . _:51842 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TACERA"; . a owl:NamedIndividual, ; , ; ; "PMID:36577740"; "A study in which all living twins in the Swedish Twin Registry born in 1958 or earlier were invited, between March 1998 and December 2002, to a computer-assisted telephone interview on demographics and health conditions, and whose participants were then followed for changes in health status."; 44919; "SALT"; rdfs:label "Screening Across the Lifespan Twin Study"@en . _:51852 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9925275/fullTextXML"; rdfs:comment "Study participants were drawn from the Swedish Twin Registry (STR), a nationwide database of all twins born in Sweden since the late 1800s and the largest population-based twin registry in the world." . _:51862 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC10711760/fullTextXML"; rdfs:comment "The SALT study, which is part of the Swedish Twin Registry, assessed 44,919 twin individuals aged between 41 and 97 years in 1998–2002" . _:51872 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:36577740"; "Cardiometabolic multimorbidity and incident dementia: the Swedish twin registry."; "PMID:36577740", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9925275/fullTextXML"; rdfs:comment "Between March 1998 and December 2002, all living twins in the registry aged >40 years (i.e. born in 1958 or earlier) were invited to participate in a computer-assisted telephone interview on demographics and health conditions as part of the Screening Across the Lifespan Twin (SALT) study (response rate: 72.6%)." . _:51882 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A study in which all living twins in the Swedish Twin Registry born in 1958 or earlier were invited, between March 1998 and December 2002, to a computer-assisted telephone interview on demographics and health conditions, and whose participants were then followed for changes in health status."; "PMID:36577740"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51892 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 44919; "twin individuals who took part in the baseline telephone interview, 1998-2002"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9925275/fullTextXML"; rdfs:comment "A total of 44 919 twin individuals participated in the SALT baseline assessment, 18 496 of whom were of older age (i.e. ≥ 60 years)." . _:518a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "SALT"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23313; , ; "MTBLS5568"; "A cross-sectional study at the Human Nutrition Unit of the University of Auckland, New Zealand, of Asian Chinese and European Caucasian adults aged 20 to 70 years across a wide range of body mass index, normoglycaemic or prediabetic, studying the greater susceptibility of Asian Chinese to visceral adiposity and type 2 diabetes."; "Characterising the Pre-diabetic Asian and Caucasian Phenotype: The 'TOFI' Profile", "HVN PANaMAH TOFI", "TOFI-Asia", "TOFI_Asia study"; ; rdfs:label "TOFI_Asia"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23313 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:518b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23313; "type 2 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A33040488+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The cross-sectional thin-on-the-outside-fat-on-the-inside (TOFI)_Asia study investigated adipose depots and clinical biomarkers as predictors of fasting plasma glucose (FPG) and insulin resistance (IR; assessed using the updated homeostatic model assessment of IR) in lean and overweight normo- and dysglycemic Chinese (n = 199) and Caucasian (n = 158) individuals." . _:518c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7667766/fullTextXML"; rdfs:comment "The TOFI-Asia study is a cross-sectional study conducted at the Human Nutrition Unit (HNU), University of Auckland, New Zealand." . _:518d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS5568"; "The impact of ethnicity and intra-pancreatic fat on the postprandial metabolome response to whey protein in overweight Asian Chinese and European Caucasian women with prediabetes."; "PMID:36992769", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS5568"; rdfs:comment "The 'Thin on the Outside Fat on the Inside' TOFI_Asia study found Asian Chinese to be more susceptible to Type 2 Diabetes (T2D) compared to European Caucasians matched for gender and body mass index (BMI)." . _:518e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cross-sectional study at the Human Nutrition Unit of the University of Auckland, New Zealand, of Asian Chinese and European Caucasian adults aged 20 to 70 years across a wide range of body mass index, normoglycaemic or prediabetic, studying the greater susceptibility of Asian Chinese to visceral adiposity and type 2 diabetes."; "PMID:33292338"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:518f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "HVN PANaMAH TOFI"; . _:51902 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "TOFI-Asia"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23320; , ; "MTBLS7290"; "A randomised crossover pilot trial in which healthy adults ate two-week diets high or low in plant bioactives, with matched total fibre and separated by a four-week washout, to assess changes in the gut microbiome and in urinary and faecal metabolites."; 27; "DIME", "Dietary BIoactives and Microbiome DivErsity study", "The Effect of Dietary BIoactives on Gut Microbiome DivErsity", "The Effect of Dietary Bioactives on Gut Microbiome DivErsity"; ; rdfs:label "The Effect of Dietary Bioactives on Gut Microbiome Diversity"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23320 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51912 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23320; "diet high in bioactive-rich foods"; "https://www.isrctn.com/api/query/format/default?q=ISRCTN14510401"; rdfs:comment "Consumption of a diet high in bioactive-rich foods for two weeks will increase gut microbial diversity in healthy participants compared to a 2-week diet low in bioactive-rich foods and will additionally affect markers of metabolic health." . _:51922 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.medrxiv.org/content/early/2025/10/17/2025.10.16.25338140.source.xml"; rdfs:comment "Participants were recruited within 40 miles of the Norwich Research Park, Norwich, UK." . _:51932 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS7290"; "The Effect of Dietary Bioactives on Gut Microbiome DivErsity (DIME) - A pilot study (Targeted metabolomics)"; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS7290"; rdfs:comment "The Effect of Dietary Bioactives on Gut Microbiome DivErsity (DIME) - A pilot study (Targeted metabolomics)" . _:51942 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised crossover pilot trial in which healthy adults ate two-week diets high or low in plant bioactives, with matched total fibre and separated by a four-week washout, to assess changes in the gut microbiome and in urinary and faecal metabolites."; "https://doi.org/10.1101/2025.10.16.25338140"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51952 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 27; "healthy participants who gave informed consent, of whom 20 completed all study activities"; "https://www.medrxiv.org/content/early/2025/10/17/2025.10.16.25338140.source.xml"; rdfs:comment "A total of 27 healthy participants (mean ± sem; 38.9 ± 2.4 y) gave their informed consent and 20 (8 men and 12 women) participants completed all study activities" . _:51962 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "DIME"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23327; , ; "MTBLS717"; "A cohort of pregnant women with singleton pregnancies, with and without risk factors for preterm birth, recruited at hospitals in the United Kingdom and sampled with cervicovaginal swabs at up to five timepoints through pregnancy."; 160; "VMET"; ; rdfs:label "VMET study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23327 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51972 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23327; "preterm birth"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8514602/fullTextXML"; rdfs:comment "Eligibility criteria were pregnant women with a singleton pregnancy, with and without risk factors for preterm birth." . _:51982 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8514602/fullTextXML"; rdfs:comment "Recruitment and sampling were performed at Imperial College Healthcare NHS Trust Hospitals (Queen Charlotte’s and Chelsea and St Mary’s Hospitals), London, UK, at Chelsea & Westminster Hospital (NHS Trust, London, UK), University College London Hospital (NHS Foundation Trust, London, UK) and the Royal Infirmary of Edinburgh, Scotland, UK." . _:51992 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS717"; "Direct on-swab metabolic profiling of vaginal microbiome host interactions during pregnancy and preterm birth."; "PMID:34645809", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS717"; rdfs:comment "Here we describe direct on-swab metabolic profiling by Desorption Electrospray Ionization Mass Spectrometry (DESI-MS) for sample preparation-free characterisation of the cervicovaginal metabolome in two independent pregnancy cohorts (VMET, n = 160; 455 swabs; VMET II, n = 205; 573 swabs)." . _:519a2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of pregnant women with singleton pregnancies, with and without risk factors for preterm birth, recruited at hospitals in the United Kingdom and sampled with cervicovaginal swabs at up to five timepoints through pregnancy."; "PMID:34645809"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:519b2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 160; "pregnant women recruited and longitudinally sampled"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC8514602/fullTextXML"; rdfs:comment "A total of 160 women recruited to the VMET study were longitudinally sampled throughout pregnancy" . _:519c2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VMET"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23334; , ; "MTBLS717"; "A cohort of women at risk of preterm birth prospectively recruited from preterm birth prevention clinics at five hospitals in London and Edinburgh, United Kingdom, between 2014 and 2023."; 2084; "VMET 2", "VMET II", "VMET-2", "VMET2", "Vaginal Microbiome and Metabolome in Pregnancy (VMET 2) Research Study", "Vaginal Microbiome and Metabonome in Pregnancy (VMET-2) Research study"; ; rdfs:label "Vaginal Microbiome and Metabonome in Pregnancy study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23334 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:519d2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23334; "preterm birth"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12423329/fullTextXML"; rdfs:comment "Women were defined as being at risk of preterm birth if they had a history of cervical excisional treatment for pre-cancerous cells, a previous preterm birth or mid-trimester loss, or other risk factors such as previous caesarean section at full cervical dilation or congenital uterine anomaly." . _:519e2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12423329/fullTextXML"; rdfs:comment "A total of 2084 women were prospectively recruited from Preterm Birth Prevention Clinics across five participating sites (Queen Charlottes and Chelsea Hospital, St Mary’s Hospital, Chelsea and Westminster Hospital, and University College Hospital (all in London), and the Royal Infirmary Edinburgh Hospital) between 2014 and 2023" . _:519f2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS717"; "Direct on-swab metabolic profiling of vaginal microbiome host interactions during pregnancy and preterm birth."; "PMID:34645809", "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS717"; rdfs:comment "Here we describe direct on-swab metabolic profiling by Desorption Electrospray Ionization Mass Spectrometry (DESI-MS) for sample preparation-free characterisation of the cervicovaginal metabolome in two independent pregnancy cohorts (VMET, n = 160; 455 swabs; VMET II, n = 205; 573 swabs)." . _:51a02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A cohort of women at risk of preterm birth prospectively recruited from preterm birth prevention clinics at five hospitals in London and Edinburgh, United Kingdom, between 2014 and 2023."; "PMID:40931094"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51a12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 2084; "women at risk of preterm birth prospectively recruited, 2014-2023"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC12423329/fullTextXML"; rdfs:comment "A total of 2084 women were prospectively recruited from Preterm Birth Prevention Clinics across five participating sites (Queen Charlottes and Chelsea Hospital, St Mary’s Hospital, Chelsea and Westminster Hospital, and University College Hospital (all in London), and the Royal Infirmary Edinburgh Hospital) between 2014 and 2023" . _:51a22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VMET 2"; . _:51a32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VMET II"; . _:51a42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VMET-2"; . _:51a52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "VMET2"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23344, _:genid-371333f489424440b12a13b9d98ced822608-genid23346; , , ; "MTBLS2307"; "A randomised trial in Lusaka, Zambia, in which HIV-infected women who planned to breastfeed exclusively to four months were assigned to counselling that encouraged abrupt weaning at four months or continued breastfeeding, to evaluate the effect of early weaning on the HIV-free survival of their children to 24 months."; 958; "ZEBS", "ZEBS study", "Zambian Exclusive Breast-feeding Study"; ; rdfs:label "Zambia Exclusive Breastfeeding Study"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23344 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23346 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51a62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23344; "HIV infection"; "https://clinicaltrials.gov/api/v2/studies/NCT00310726"; rdfs:comment "All HIV-seropositive pregnant subjects electing to breastfeed their child will be counselled to exclusively breastfeed through 4 months of age." . _:51a72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23346; "abrupt weaning at 4 months versus continued breastfeeding"; "https://clinicaltrials.gov/api/v2/studies/NCT00310726"; rdfs:comment "The primary objective of the study, based on the random assignment, is to compare HIV transmission rates and under-2 year mortality rates in children who abruptly wean at four months of age versus children who are weaned according to local practice." . _:51a82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2137948/fullTextXML"; rdfs:comment "HIV-infected women were recruited between May 2001 and September 2004 from prevention of mother-to-child transmission (PMTCT) programs established at two antenatal clinics in Lusaka, Zambia." . _:51a92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "MTBLS2307"; "Altered milk tryptophan and tryptophan metabolites and health of children born to women with HIV (ZEBS study milk assays)."; "https://www.ebi.ac.uk/metabolights/ws/studies/public/study/MTBLS2307"; rdfs:comment "Altered milk tryptophan and tryptophan metabolites and health of children born to women with HIV (ZEBS study milk assays)." . _:51aa2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A randomised trial in Lusaka, Zambia, in which HIV-infected women who planned to breastfeed exclusively to four months were assigned to counselling that encouraged abrupt weaning at four months or continued breastfeeding, to evaluate the effect of early weaning on the HIV-free survival of their children to 24 months."; "PMID:18525036"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51ab2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 958; "HIV-infected women and their infants enrolled and randomised (2004)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A18525036+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We enrolled 958 HIV-infected women and their infants in Lusaka, Zambia." . _:51ac2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "ZEBS"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23353; "PXD022183"; "A global consortium of paediatric nephrology centres dedicated to the care of children on chronic dialysis, which runs two registries: the IPPN registry for children on chronic peritoneal dialysis and the IPHN registry for children on haemodialysis."; "IPDN"; ; rdfs:label "International Pediatric Dialysis Network"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23353 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51ad2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23353; "chronic kidney disease"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A37566114+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "This retrospective real-world study used data from two registries, International Pediatric Peritoneal Dialysis Network (IPPN) and International Pediatric Hemodialysis Network (IPHN), to characterize the efficacy and safety of continuous erythropoietin receptor activator (C.E.R.A.) in pediatric patients with chronic kidney disease (CKD) on peritoneal dialysis (PD) or hemodialysis (HD)." . _:51ae2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD022183"; "Peritoneal Dialysis Fluid Supplementation with Alanyl-Glutamine Attenuates Conventional Dialysis Fluid-Mediated Endothelial Cell Injury by Restoring Perturbed Cytoprotective Responses."; "PMID:33334074", "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD022183"; rdfs:comment "The study was part of the International Pediatric Dialysis Network (IPDN; www.pedpd.org)." . _:51af2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A global consortium of paediatric nephrology centres dedicated to the care of children on chronic dialysis, which runs two registries: the IPPN registry for children on chronic peritoneal dialysis and the IPHN registry for children on haemodialysis."; "https://www.pedpd.org/"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51b02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "IPDN"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23358; , ; "PXD033091"; "A population-based multi-centre longitudinal cohort of pregnant women recruited in Poland from 2007 to 2011, with their children followed through infancy, childhood and adolescence, to evaluate the impact of occupational, environmental and lifestyle exposures during pregnancy and after birth on pregnancy outcomes and offspring health."; 1763; "Polish Mother and Child Cohort Study", "Polish Mother and Child cohort", "REPRO_PL", "REPRO_PL cohort"; ; rdfs:label "Polish Mother and Child Cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23358 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51b12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23358; "occupational, environmental and lifestyle-related exposures during the prenatal period and after birth"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9656994/fullTextXML"; rdfs:comment "The general aim of the REPRO_PL cohort is to evaluate the impact of occupational, environmental and lifestyle-related exposures during the prenatal period and after birth on pregnancy outcomes and/or offspring health during various stages of life (infancy, childhood and adolescence)." . _:51b22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9656994/fullTextXML"; rdfs:comment "The Polish Mother and Child Cohort (REPRO_PL) is a population-based multi-center longitudinal study established in 2007 in Poland." . _:51b32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD033091"; "Proteomic analysis of human neuronal SH-SY5Y in neurological diseases exposed to phtalates and metaks"; "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD033091"; rdfs:comment "Mixtures of phthalates (DEHP, DiNP, BBzP) and metals (lead, methylmercury, total mercury, cadmium) were selected as they were the most abundant ones in the REPRO_PL and PHIME cohorts, respectively, in the frame of the EU project HEALS, investigating if exposure to those pollutants could be associated to neurodevelopmental disorders in children across Europe." . _:51b42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A population-based multi-centre longitudinal cohort of pregnant women recruited in Poland from 2007 to 2011, with their children followed through infancy, childhood and adolescence, to evaluate the impact of occupational, environmental and lifestyle exposures during pregnancy and after birth on pregnancy outcomes and offspring health."; "PMID:36361044"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51b52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 1763; "pregnant women recruited (2011)"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9656994/fullTextXML"; rdfs:comment "A total of 1763 women were recruited in the REPRO_PL cohort" . _:51b62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "REPRO_PL"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23365; , , , , ; "PXD033091"; "A prospective cohort of mother-infant pairs recruited in the coastal Province of Trieste, Italy, in Ljubljana, Slovenia, in Rijeka, Croatia, and on Greek islands, set up within the PHIME project (2006 to 2011) to investigate the effects of prenatal low-level mercury exposure from maternal fish and seafood consumption on child neurodevelopment."; "PHIME", "PHIME cohort"; ; rdfs:label "Mediterranean PHIME cohort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23365 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51b72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23365; "prenatal low-level mercury exposure from maternal consumption of fish and seafood"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3700240/fullTextXML"; rdfs:comment "We designed a prospective cohort to investigate the effects of prenatal low-level mercury exposure from maternal consumption of fish and seafood on child neurodevelopment among residents of the Mediterranean coastal areas of 4 neighboring countries." . _:51b82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3700240/fullTextXML"; rdfs:comment "The cohort includes 4 recruitment areas: (a) the coastal Province of Trieste, Italy, (b) the city of Ljubljana, Slovenia and its surroundings (up to 50 km), (c) the coastal city of Rijeka, Croatia and its county (Primorsko-goranska), and (d) the Greek islands of Lesvos, Chios, Samos, and Leros in the eastern Aegean." . _:51b92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PXD033091"; "Proteomic analysis of human neuronal SH-SY5Y in neurological diseases exposed to phtalates and metaks"; "https://www.ebi.ac.uk/pride/ws/archive/v2/projects/PXD033091"; rdfs:comment "Mixtures of phthalates (DEHP, DiNP, BBzP) and metals (lead, methylmercury, total mercury, cadmium) were selected as they were the most abundant ones in the REPRO_PL and PHIME cohorts, respectively, in the frame of the EU project HEALS, investigating if exposure to those pollutants could be associated to neurodevelopmental disorders in children across Europe." . _:51ba2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A prospective cohort of mother-infant pairs recruited in the coastal Province of Trieste, Italy, in Ljubljana, Slovenia, in Rijeka, Croatia, and on Greek islands, set up within the PHIME project (2006 to 2011) to investigate the effects of prenatal low-level mercury exposure from maternal fish and seafood consumption on child neurodevelopment."; "PMID:23269124"; "Claude Fable 5.1 (Anthropic), 2026-09", "Claude Opus 5.5 (Anthropic), 2026-09" . _:51bb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PHIME"; . a owl:NamedIndividual, ; , , , , , , , , , ; , ; "GCST008025"; "A consortium initiated in 2008 by the National Human Genome Research Institute to investigate the epidemiologic architecture of well-replicated genetic variants associated with complex diseases across several large, ethnically diverse population-based studies of African American, white, Hispanic/Latino, Asian/Pacific Islander and American Indian participants, harmonising phenotypes across the studies and running coordinated cohort-specific analyses and meta-analyses."; "The acronym PAGE also denotes Psoriasis Association Genetics Extension (COHO:0000145), Placental Abruption Genetic Epidemiology study (COHO:0001268) and Parkinson's, Genes, and Environment Study (COHO:0002232); this term is Population Architecture using Genomics and Epidemiology Study."@en; 121200; "PAGE", "PAGE Study", "PAGE consortium", "PAGE study", "Population Architecture Using Genetics and Epidemiology", "Population Architecture through Genomics and Environment", "Population Architecture using Genomics and Epidemiology"; ; rdfs:label "Population Architecture using Genomics and Epidemiology Study"@en . _:51bc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51bd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.pagestudy.org/studies/"; rdfs:comment "The PAGE MESA PI is Dr. Steven Rich." . _:51be2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51bf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51c02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51c12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51c22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.pagestudy.org/studies/"; rdfs:comment "The PAGE BioMe PI is Dr. Ruth Loos." . _:51c32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51c42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6059436/fullTextXML"; rdfs:comment "Briefly, the first phase of the PAGE study was comprised of a coordinating center, four large study sites/consortia [Causal Variants Across the Life Course (CALiCo) Consortium, including the Atherosclerosis Risk in Communities (ARIC) Study, Coronary Artery Risk Development in Young Adults (CARDIA), the Hispanic Community Health Study/Study of Latinos (HCHS/SOL); Epidemiologic Architecture for Genes Linked to Environment (EAGLE)-accessing the Vanderbilt University Medical Center’s biorepository (BioVU); Multiethnic Cohort (MEC); the Women’s Health Initiative (WHI)], and additional collaborating studies [The Hypertension Genetic Epidemiology Network (HyperGEN) Study, the MEC-Slim Initiative in Genomic Medicine for the Americas Type 2 Diabetes Consortium (MEC-SIGMA), Multi-Ethnic Study of Atherosclerosis (MESA), and Mount Sinai School of Medicine BioBank (BioME)]." . _:51c52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "The PAGE consortium consists of 4 large, ongoing population-based studies or consortia: Epidemiologic Architecture for Genes Linked to Environment (EAGLE), which is based on data from 3 National Health and Nutrition Examination Surveys (NHANES; https://chgr.mc.vanderbilt.edu/eagle) (7); the Multiethnic Cohort Study (http://www.crch.org/multiethniccohort/) (8); the Women's Health Initiative (http://www.whi.org) (9); and Causal Variants Across the Life Course (CALiCo), a consortium of 5 cohort studies—Atherosclerosis Risk in Communities (ARIC; http://www.cscc.unc.edu/aric/) (10), Coronary Artery Risk Development in Young Adults (CARDIA; http://www.cardia.dopm.uab.edu/) (11), the Cardiovascular Health Study (http://www.chs-nhlbi.org/) (12), the Hispanic Community Health Study/Study of Latinos (http://www.cscc.unc.edu/hchs/) (13), and the Strong Heart Study (http://strongheart.ouhsc.edu/) (14, 15)." . _:51c62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcoa.cgi/BioC_xml/PMC6785182/unicode"; rdfs:comment "The PAGE study was developed by the National Human Genome Research Institute and the National Institute on Minority Health and Health Disparities to conduct genetic epidemiological research in ancestrally diverse populations within the United States." . _:51c72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST008025"; "Genetic analyses of diverse populations improves discovery for complex traits."; "PMID:31217584", "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A31217584+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "The Population Architecture using Genomics and Epidemiology (PAGE) study conducted a GWAS of 26 clinical and behavioural phenotypes in 49,839 non-European individuals." . _:51c82 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium initiated in 2008 by the National Human Genome Research Institute to investigate the epidemiologic architecture of well-replicated genetic variants associated with complex diseases across several large, ethnically diverse population-based studies of African American, white, Hispanic/Latino, Asian/Pacific Islander and American Indian participants, harmonising phenotypes across the studies and running coordinated cohort-specific analyses and meta-analyses."; "PMID:21836165"; "Claude Opus 5.5 (Anthropic), 2026-10", "Claude Sonnet 5.5 (Anthropic), 2026-10" . _:51c92 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 121200; "participants available for study across the PAGE cohorts (the source says 'over 121,200')"; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3176830/fullTextXML"; rdfs:comment "With over 121,200 African-American, white, Hispanic/Latino, Asian/Pacific Islander, and American Indian participants available for study across the cohorts, PAGE investigators are well poised to address the critical research questions that follow the establishment of GWAS associations through large-scale replication and generalization." . _:51ca2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PAGE"; . a owl:NamedIndividual, , _:genid-371333f489424440b12a13b9d98ced822608-genid23386, _:genid-371333f489424440b12a13b9d98ced822608-genid23388; , ; , , , , , ; "GCST001688"; "A consortium formed to examine previously reported genetic associations with diabetic nephropathy in type 1 diabetes, bringing together similarly ascertained participants of European ancestry with type 1 diabetes, with and without diabetic nephropathy, from the All Ireland-Warren 3-Genetics of Kidneys in Diabetes UK and Republic of Ireland collection and the Finnish Diabetic Nephropathy Study, with reanalysed data from the Genetics of Kidneys in Diabetes US Study."; "The acronym GENIE also denotes Gene-Environmental Interaction and phenotype study (COHO:0000186) and AACR Project GENIE (COHO:0000209); this term is GEnetics of Nephropathy: an International Effort."@en; 6366; "GENIE", "GENIE consortium", "GEnetics of Nephropathy - an International Effort", "GEnetics of Nephropathy-an International Effort"; ; rdfs:label "GEnetics of Nephropathy: an International Effort"@en . _:genid-371333f489424440b12a13b9d98ced822608-genid23386 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:genid-371333f489424440b12a13b9d98ced822608-genid23388 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51cb2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23386; "diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22721967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We formed the GEnetics of Nephropathy-an International Effort (GENIE) consortium to examine previously reported genetic associations with diabetic nephropathy (DN) in type 1 diabetes." . _:51cc2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty rdf:type; owl:annotatedTarget _:genid-371333f489424440b12a13b9d98ced822608-genid23388; "type 1 diabetes"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22721967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "We formed the GEnetics of Nephropathy-an International Effort (GENIE) consortium to examine previously reported genetic associations with diabetic nephropathy (DN) in type 1 diabetes." . _:51cd2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3447939/fullTextXML"; rdfs:comment "In GENIE, we leveraged three existing collections for T1D nephropathy (All Ireland Warren 3 Genetics of Kidneys in Diabetes UK Collection [UK-ROI], Finnish Diabetic Nephropathy Study [FinnDiane], and Genetics of Kidneys in Diabetes US Study [GoKinD US]) comprising 6,691 individuals to perform the most comprehensive and well powered DN susceptibility genome-wide association study (GWAS) and meta-analysis to date, with the aim to identify genetic markers associated with DN by meta-analyzing independent GWAS, imputed to HapMap CEU II (Table 1, Figure 1)." . _:51ce2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3447939/fullTextXML"; rdfs:comment "In GENIE, we leveraged three existing collections for T1D nephropathy (All Ireland Warren 3 Genetics of Kidneys in Diabetes UK Collection [UK-ROI], Finnish Diabetic Nephropathy Study [FinnDiane], and Genetics of Kidneys in Diabetes US Study [GoKinD US]) comprising 6,691 individuals to perform the most comprehensive and well powered DN susceptibility genome-wide association study (GWAS) and meta-analysis to date, with the aim to identify genetic markers associated with DN by meta-analyzing independent GWAS, imputed to HapMap CEU II (Table 1, Figure 1)." . _:51cf2 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22721967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GENIE consists of 6,366 similarly ascertained participants of European ancestry with type 1 diabetes, with and without DN, from the All Ireland-Warren 3-Genetics of Kidneys in Diabetes U.K. and Republic of Ireland (U.K.-R.O.I.) collection and the Finnish Diabetic Nephropathy Study (FinnDiane), combined with reanalyzed data from the Genetics of Kidneys in Diabetes U.S. Study (U.S. GoKinD)." . _:51d02 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GCST001688"; "New susceptibility loci associated with kidney disease in type 1 diabetes."; "PMID:23028342", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3447939/fullTextXML"; rdfs:comment "In GENIE, we leveraged three existing collections for T1D nephropathy (All Ireland Warren 3 Genetics of Kidneys in Diabetes UK Collection [UK-ROI], Finnish Diabetic Nephropathy Study [FinnDiane], and Genetics of Kidneys in Diabetes US Study [GoKinD US]) comprising 6,691 individuals to perform the most comprehensive and well powered DN susceptibility genome-wide association study (GWAS) and meta-analysis to date, with the aim to identify genetic markers associated with DN by meta-analyzing independent GWAS, imputed to HapMap CEU II (Table 1, Figure 1)." . _:51d12 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A consortium formed to examine previously reported genetic associations with diabetic nephropathy in type 1 diabetes, bringing together similarly ascertained participants of European ancestry with type 1 diabetes, with and without diabetic nephropathy, from the All Ireland-Warren 3-Genetics of Kidneys in Diabetes UK and Republic of Ireland collection and the Finnish Diabetic Nephropathy Study, with reanalysed data from the Genetics of Kidneys in Diabetes US Study."; "PMID:22721967"; "Claude Opus 5.5 (Anthropic), 2026-10", "Claude Sonnet 5.5 (Anthropic), 2026-10" . _:51d22 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget 6366; "participants of European ancestry with type 1 diabetes, with and without diabetic nephropathy"; "https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID%3A22721967+AND+SRC%3AMED&format=json&resultType=core"; rdfs:comment "GENIE consists of 6,366 similarly ascertained participants of European ancestry with type 1 diabetes, with and without DN, from the All Ireland-Warren 3-Genetics of Kidneys in Diabetes U.K. and Republic of Ireland (U.K.-R.O.I.) collection and the Finnish Diabetic Nephropathy Study (FinnDiane), combined with reanalyzed data from the Genetics of Kidneys in Diabetes U.S. Study (U.S. GoKinD)." . _:51d32 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "GENIE"; . a owl:NamedIndividual, ; , ; ; "PMID:26221186"; "A biorepository based at the University of Washington and co-managed by the University of Washington and Kaiser Permanente Washington, built as infrastructure for a broad range of future genetic research, through which Kaiser Permanente Washington participants were enrolled in the eMERGE Network."; "NWIGM", "NWIGM biorepository", "NWIGM repository"; rdfs:label "Northwest Institute of Genetic Medicine biorepository"@en . _:51d42 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget ; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001584/phs001584.v2.p2/GapExchange_phs001584.v2.p2.xml"; rdfs:comment "Kaiser Permanente Washington with the University of Washington and the Fred Hutchinson Cancer Research Center, Seattle, WA, USA" . _:51d52 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "PMID:26221186"; "Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network."; "PMID:26221186", "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4517371/fullTextXML"; rdfs:comment "Potential GH participants for the PGx project were enrolled in the eMERGE Network through the Northwest Institute of Genetic Medicine (NWIGM) biorepository, and provided the appropriate consent to receive clinically relevant genetic results (N ∼6300)." . _:51d62 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "A biorepository based at the University of Washington and co-managed by the University of Washington and Kaiser Permanente Washington, built as infrastructure for a broad range of future genetic research, through which Kaiser Permanente Washington participants were enrolled in the eMERGE Network."; "https://ftp.ncbi.nlm.nih.gov/dbgap/studies/phs001584/phs001584.v2.p2/GapExchange_phs001584.v2.p2.xml"; "Claude Opus 5.5 (Anthropic), 2026-10", "Claude Sonnet 5.5 (Anthropic), 2026-10" . _:51d72 a owl:Axiom; owl:annotatedSource ; owl:annotatedProperty ; owl:annotatedTarget "NWIGM"; . a owl:NamedIndividual . _:51d82 a owl:Restriction; owl:onProperty ; owl:someValuesFrom ; rdfs:subClassOf _:51d92 . _:51d92 a owl:Class; owl:unionOf _:51db2 . _:51db2 rdf:first _:51da2; rdf:rest _:51de2 . _:51da2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom _:51dc2 . _:51dc2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51de2 rdf:first _:51dd2; rdf:rest rdf:nil . _:51dd2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom _:51df2 . _:51df2 a owl:Restriction; owl:onProperty ; owl:someValuesFrom _:51e02 . _:51e02 a owl:Restriction; owl:onProperty ; owl:someValuesFrom . _:51e12 a owl:AllDifferent; owl:distinctMembers _:51e22 . _:51e22 rdf:first ; rdf:rest _:51e32 . _:51e32 rdf:first ; rdf:rest _:51e42 . _:51e42 rdf:first ; rdf:rest _:51e52 . _:51e52 rdf:first ; rdf:rest _:51e62 . _:51e62 rdf:first ; rdf:rest _:51e72 . _:51e72 rdf:first ; rdf:rest _:51e82 . _:51e82 rdf:first ; rdf:rest _:51e92 . _:51e92 rdf:first ; rdf:rest rdf:nil . _:51ea2 a owl:AllDifferent; owl:distinctMembers _:51eb2 . _:51eb2 rdf:first ; rdf:rest _:51ec2 . _:51ec2 rdf:first ; rdf:rest _:51ed2 . _:51ed2 rdf:first ; rdf:rest _:51ee2 . _:51ee2 rdf:first ; rdf:rest rdf:nil . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . a . _:51ef2 a ; _:51f02; _:51f62 . _:51f02 a ; rdf:first _:51f12; rdf:rest _:51f22 . _:51f12 a ; ; . _:51f22 a ; rdf:first _:51f32; rdf:rest _:51f42 . _:51f32 a ; ; ; . _:51f42 a ; rdf:first _:51f52; rdf:rest rdf:nil . _:51f52 a ; ; . _:51f62 a ; rdf:first _:51f72; rdf:rest rdf:nil . _:51f72 a ; ; ; . _:51f82 a ; _:51f92; _:51fd2 . _:51f92 a ; rdf:first _:51fa2; rdf:rest _:51fb2 . _:51fa2 a ; ; . _:51fb2 a ; rdf:first _:51fc2; rdf:rest rdf:nil . _:51fc2 a ; ; ; . _:51fd2 a ; rdf:first _:51fe2; rdf:rest rdf:nil . _:51fe2 a ; ; ; . _:51ff2 a ; _:52002; _:52042 . _:52002 a ; rdf:first _:52012; rdf:rest _:52022 . _:52012 a ; ; . _:52022 a ; rdf:first _:52032; rdf:rest rdf:nil . _:52032 a ; ; ; . _:52042 a ; rdf:first _:52052; rdf:rest rdf:nil . _:52052 a ; ; ; . _:52062 a ; _:52072; _:520b2 . _:52072 a ; rdf:first _:52082; rdf:rest _:52092 . _:52082 a ; ; . _:52092 a ; rdf:first _:520a2; rdf:rest rdf:nil . _:520a2 a ; ; ; . _:520b2 a ; rdf:first _:520c2; rdf:rest rdf:nil . _:520c2 a ; ; ; . _:520d2 a ; _:520e2; _:52122 . _:520e2 a ; rdf:first _:520f2; rdf:rest _:52102 . _:520f2 a ; ; . _:52102 a ; rdf:first _:52112; rdf:rest rdf:nil . _:52112 a ; ; ; . _:52122 a ; rdf:first _:52132; rdf:rest rdf:nil . _:52132 a ; ; ; . _:52142 a ; _:52152; _:521d2 . _:52152 a ; rdf:first _:52162; rdf:rest _:52172 . _:52162 a ; ; ; . _:52172 a ; rdf:first _:52182; rdf:rest _:52192 . _:52182 a ; ; . _:52192 a ; rdf:first _:521a2; rdf:rest _:521b2 . _:521a2 a ; ; ; . _:521b2 a ; rdf:first _:521c2; rdf:rest rdf:nil . _:521c2 a ; ; ; . _:521d2 a ; rdf:first _:521e2; rdf:rest rdf:nil . _:521e2 a ; ; ; . _:521f2 a ; rdfs:label "inferring direct neg reg edge from input to regulatory subfunction"; _:52202; _:52262 . _:52202 a ; rdf:first _:52212; rdf:rest _:52222 . _:52212 a ; ; ; . _:52222 a ; rdf:first _:52232; rdf:rest _:52242 . _:52232 a ; ; ; . _:52242 a ; rdf:first _:52252; rdf:rest rdf:nil . _:52252 a ; ; ; . _:52262 a ; rdf:first _:52272; rdf:rest rdf:nil . _:52272 a ; ; ; . _:52282 a ; rdfs:label "inferring direct positive reg edge from input to regulatory subfunction"; _:52292; _:522f2 . _:52292 a ; rdf:first _:522a2; rdf:rest _:522b2 . _:522a2 a ; ; ; . _:522b2 a ; rdf:first _:522c2; rdf:rest _:522d2 . _:522c2 a ; ; ; . _:522d2 a ; rdf:first _:522e2; rdf:rest rdf:nil . _:522e2 a ; ; ; . _:522f2 a ; rdf:first _:52302; rdf:rest rdf:nil . _:52302 a ; ; ; . _:52312 a ; rdfs:label "effector input is compound function input"; _:52322; _:52362 . _:52322 a ; rdf:first _:52332; rdf:rest _:52342 . _:52332 a ; ; ; . _:52342 a ; rdf:first _:52352; rdf:rest rdf:nil . _:52352 a ; ; ; . _:52362 a ; rdf:first _:52372; rdf:rest rdf:nil . _:52372 a ; ; ; . _:52382 a ; rdfs:label "Input of effector is input of its parent MF"; _:52392; _:523d2 . _:52392 a ; rdf:first _:523a2; rdf:rest _:523b2 . _:523a2 a ; ; ; . _:523b2 a ; rdf:first _:523c2; rdf:rest rdf:nil . _:523c2 a ; ; ; . _:523d2 a ; rdf:first _:523e2; rdf:rest rdf:nil . _:523e2 a ; ; ; . _:523f2 a ; rdfs:label "if effector directly negatively regulates X, its parent MF directly negatively regulates X"; _:52402; _:52442 . _:52402 a ; rdf:first _:52412; rdf:rest _:52422 . _:52412 a ; ; ; . _:52422 a ; rdf:first _:52432; rdf:rest rdf:nil . _:52432 a ; ; ; . _:52442 a ; rdf:first _:52452; rdf:rest rdf:nil . _:52452 a ; ; ; . _:52462 a ; rdfs:label "'causally downstream of' and 'overlaps' should be disjoint properties (a SWRL rule is required because these are non-simple properties)."; _:52472; _:524b2 . _:52472 a ; rdf:first _:52482; rdf:rest _:52492 . _:52482 a ; ; ; . _:52492 a ; rdf:first _:524a2; rdf:rest rdf:nil . _:524a2 a ; ; ; . _:524b2 a ; rdf:first _:524c2; rdf:rest _:524d2 . _:524c2 a ; owl:Nothing; . _:524d2 a ; rdf:first _:524e2; rdf:rest rdf:nil . _:524e2 a ; owl:Nothing; . _:524f2 a ; rdfs:label "'causally upstream of' and 'overlaps' should be disjoint properties (a SWRL rule is required because these are non-simple properties)."; _:52502; _:52542 . _:52502 a ; rdf:first _:52512; rdf:rest _:52522 . _:52512 a ; ; ; . _:52522 a ; rdf:first _:52532; rdf:rest rdf:nil . _:52532 a ; ; ; . _:52542 a ; rdf:first _:52552; rdf:rest _:52562 . _:52552 a ; owl:Nothing; . _:52562 a ; rdf:first _:52572; rdf:rest rdf:nil . _:52572 a ; owl:Nothing; . _:52582 a ; _:52592; _:525d2 . _:52592 a ; rdf:first _:525a2; rdf:rest _:525b2 . _:525a2 a ; ; ; . _:525b2 a ; rdf:first _:525c2; rdf:rest rdf:nil . _:525c2 a ; ; ; . _:525d2 a ; rdf:first _:525e2; rdf:rest rdf:nil . _:525e2 a ; ; ; . _:525f2 a ; _:52602; _:52642 . _:52602 a ; rdf:first _:52612; rdf:rest _:52622 . _:52612 a ; ; ; . _:52622 a ; rdf:first _:52632; rdf:rest rdf:nil . _:52632 a ; ; ; . _:52642 a ; rdf:first _:52652; rdf:rest rdf:nil . _:52652 a ; ; ; . _:52662 a ; _:52672; _:526b2 . _:52672 a ; rdf:first _:52682; rdf:rest _:52692 . _:52682 a ; ; ; . _:52692 a ; rdf:first _:526a2; rdf:rest rdf:nil . _:526a2 a ; ; ; . _:526b2 a ; rdf:first _:526c2; rdf:rest rdf:nil . _:526c2 a ; ; ; . _:526d2 a ; _:526e2; _:52722 . _:526e2 a ; rdf:first _:526f2; rdf:rest _:52702 . _:526f2 a ; ; ; . _:52702 a ; rdf:first _:52712; rdf:rest rdf:nil . _:52712 a ; ; ; . _:52722 a ; rdf:first _:52732; rdf:rest rdf:nil . _:52732 a ; ; ; . _:52742 a ; _:52752; _:52792 . _:52752 a ; rdf:first _:52762; rdf:rest _:52772 . _:52762 a ; ; ; . _:52772 a ; rdf:first _:52782; rdf:rest rdf:nil . _:52782 a ; ; ; . _:52792 a ; rdf:first _:527a2; rdf:rest rdf:nil . _:527a2 a ; ; ; . _:527b2 a ; _:527c2; _:52802 . _:527c2 a ; rdf:first _:527d2; rdf:rest _:527e2 . _:527d2 a ; ; ; . _:527e2 a ; rdf:first _:527f2; rdf:rest rdf:nil . _:527f2 a ; ; ; . _:52802 a ; rdf:first _:52812; rdf:rest rdf:nil . _:52812 a ; ; ; .